<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Perianal cellulitis and explain in detail? [/INST] Perianal cellulitis, also known as perianitis or perianal streptococcal dermatitis, is a bacterial infection affecting the lower layers of the skin (cellulitis) around the anus. It presents as bright redness in the skin and can be accompanied by pain, difficulty defecating, itching, and bleeding. This disease is considered a complicated skin and soft tissue infection (cSSTI) because of the involvement of the deeper soft tissues.Perianal cellulitis is most commonly caused by group A beta-hemolytic streptococcus bacteria (Streptococcus pyogenes), which resides normally ("in small numbers") in the human throat and on the human skin. Other less common causes may include infection with group B beta-hemolytic streptococci (Streptococcus agalactiae), a bacteria found in the human vagina of some, or Staphylococcus aureus, a common component of the bacterial community in the human nose and/or skin.Perianal cellulitis occurs mainly in male children between six months and 10 years of age, however, there are documented cases of perianal cellulitis in adults as well. Oral antibiotics are the first line treatment for perianal cellulitis and may be used in combination with topical antibiotics. Since the infection occurs within the deeper layers of skin, using a topical treatment by itself may not be effective. In about 20% of cases, recurrence of perianal streptococcal dermatitis infection occurs within 3.5 months. Routine hygiene practices should also be encouraged in children and adults in order to reduce the risk of recurrent infection.

Signs and symptoms
Perianal cellulitis manifests as multiple symptoms that are inconsistent with a systemic disease. The most notable feature is a very distinct redness around the anus, and other signs of inflammation which can include swelling and itching at the site. Other associated symptoms with perianal cellulitis include pain when defecating and bleeding. These symptoms can often be confused with other skin conditions, such as diaper rash, eczema, psoriasis, hemorrhoids, and more. These symptoms can cause extreme discomfort, especially in diaper-wearing infants, and serious complications can arise if left untreated. In about 10% of cases, balanitis or vulvovaginitis can develop concomitantly. In even rarer instances, tonsillopharyngitis can develop concomitantly as well.Complications most often occur when perianal cellulitis remains undiagnosed and untreated for an extended period of time. In cases where perianal cellulitis is left untreated, it can cause more serious symptoms such as abscess formation and rheumatic fever. Additionally, untreated perianal cellulitis poses a risk of transmission to other people, such as caretakers or family members. Perianal cellulitis can also cause post-streptococcal nephritis, which should be monitored with urinalysis to assess kidney function.

Diagnosis
The diagnosis of perianal cellulitis is made either through a rapid strep test or by swabbing the affected areas for a bacterial culture indicating infection by group A β-hemolytic streptococci. In order to confirm diagnosis of perianal streptococcal dermatitis, the anus and genitalia require examination followed by bacterial swabbing of the exudate from the affected area is preferred. The swabs will be sent for microbiological analysis of the culture to confirm the growth of group A β-hemolytic streptococci. "The time to diagnosis of perianal streptococcal dermatitis is ≥3 weeks in 65% of cases." Because perianal cellulitis is commonly misdiagnosed, it is imperative that the proper diagnosing procedures are followed when encountering these symptoms, as delayed detection can result in severe complications.Within the pediatric population, it is common for the management of rashes to occur under the collaboration of an inter-professional team. Due to the diverse causes of rashes in the pediatric population, it may be necessary to refer pediatric patients to a pediatrician or a dermatologist to prevent misdiagnosis of perianal streptococcal dermatitis. Across the different disciplines of care, nurses have an opportunity to provide education on proper hygiene techniques to reduce the risk of recurrent infection. Pharmacists can provide patient and caretaker counseling on the selected medication therapy and improve medication adherence. By working together as an inter-professional team, all types of clinicians can improve patient health outcomes by raising awareness and reducing both time to diagnosis and the rate of recurrence of perianal streptococcal dermatitis infection.

Differential diagnosis
Due to the non-specific presentation of the symptoms of perianal streptococcal dermatitis, it is frequently misdiagnosed by clinicians. To reach the correct diagnosis of perianal streptococcal dermatitis often ranges from weeks to months and can extend to even longer. During this time, the patient can undergo treatment for a variety of differential diagnoses. Perianal streptococcal dermatitis imitates other common diseases in the anal region and therefore can be mistaken for "candidiasis, irritant diaper dermatitis, pinworm infestation, chronic inflammatory bowel disease, seborrheic dermatitis, or even sexual abuse." The delay in diagnosis of perianal streptococcal dermatitis can result in prolonged discomfort and additional symptoms of constipation, anal discharge or oozing, and anal fissures.

Pathophysiology
Causes
In most cases of perianal streptococcal dermatitis in children, swab cultures indicate that infection is caused by the bacteria Streptococcus pyogenes, more specifically classified as group A beta-hemolytic streptococci (GAS). There have been reported cases, however, that have found perianal streptococcal cellulitis infections to be caused by group B beta-hemolytic streptococci (GBS) and, in rare cases, other groups of beta-hemolytic streptococci or Staphylococcus aureus. It is important to note, however, that in the rare adult cases of perianal streptococcal cellulitis that have been identified, the most common cause is by beta-hemolytic streptococci from group B specified as Streptococcus agalactiae.
Streptococci are gram-positive bacteria that grow in chains, but they have no motility and do not generate spores. Group A streptococci and Group B streptococci are the two most common strains that are associated with pediatric cases. Infections caused by Group A streptococci are generally more mild than infections caused by Group B streptococci. The most common Group A streptococcus infections can range from strep throat to pneumonia to cellulitis. Group B streptococcus is more commonly found in the gastrointestinal and genital tracts, and can also be transmitted vertically from mother to child during vaginal labor. These newborn cases of infection often manifest as sepsis, pneumonia, and meningitis, among other presentations.Based on cases studied of children with perianal streptococcal dermatitis, there has been a pattern of perianal infection occurring after being diagnosed with previous streptococcal infections (i.e. "strep throat"). It is believed that bacteria from these infections may be introduced to the skin of the perianal region after touching the nose or mouth and then proceeding to use the toilet or touching the area for any other reason.While perianal streptococcal dermatitis is a treatable condition, there are serious consequences that may arise if left undiagnosed and/or untreated in patients with an infection. Failure to properly diagnose and treat perianal streptococcal dermatitis may lead to more serious infections that could result in injury or death.

Mechanism
Upon the initial exposure of Streptococcus pyogenes (group A beta-hemolytic streptocci) bacteria to the skin surrounding the perianal region, the bacteria adheres to the skins surface with filaments on its cell wall surface called adhesins. An adhesin found in group A beta-hemolytic streptococci of particular importance is called the M protein, which utilizes complex mechanisms to recognize various receptors on human cell types for attachment. After attachment, colonization of Streptococcus pyogenes occurs and the bacteria release many toxins that are responsible for the manifestation of symptoms of perianal cellulitis such as inflammation, fever, and itching. Secretion of hyaluronidase, also known as "spreading factor", encourages the Streptococcus pyogenes bacterium to spread more easily throughout the lower layers of skin tissue (subcutaneous tissue). As the streptococci continue to colonize, the formation of a biofilm may arise and its protective properties may make it more difficult to treat the infection with antibiotics.In cases of perianal cellulitis infections that are not treated properly, group A beta-hemolytic streptococci may cross into the bloodstream through the epithelium of the perianal area to cause serious infections such as necrotizing fasciitis or toxic shock syndrome. The group A beta-hemolytic streptococci bacteria that enter the bloodstream are able to cause serious infections by overpowering natural immune responses and allowing bacteria to rapidly multiply to cause harm to the body.

Treatment
After the diagnosis of perianal streptococcal dermatitis has been confirmed, the most successful treatment regimens utilize a combination of topical and systemic antibiotics. Oral antibiotics are the recommended first-line treatment for perianal streptococcal dermatitis.  Perianal streptococcal dermatitis does not resolve on its own. The treatment of choice for oral antibiotics include "penicillin V, azithromycin, clarithromycin, clindamycin, erythromycin, penicillinase-resistant penicillin, or cephalosporins." Oral antibiotics work best in combination with a topical antibiotic such as mupirocin, or an antiseptic such as chlorhexidine. Due to the affect that perianal streptococcal dermatitis has on the deeper layers of the skin, topical antimicrobial therapy alone appears to be poorly effective. Treatment duration ranges from 14 to 21 days and treatment success is determined by clinical examination and post-treatment swabbing of the affected area to confirm that the infection is no longer present.

Prevention & Recurrence
There is little data that currently exists on the prevention of perianal cellulitis. However, "approximately one-third of people with cellulitis suffer recurrent episodes and the only proven strategy for preventing this is long-term, low-dose oral penicillin." Performing post-treatment swabbing and confirming eradication of group A β-hemolytic streptococci infection reduces the chance of perianal streptococcal dermatitis recurrence. In about 20% of cases, recurrence of perianal streptococcal dermatitis infection occurs within 3.5 months </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Ectopic ureter and explain in detail? [/INST]  </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Glycogen storage disease type III and explain in detail? [/INST] Glycogen storage disease type III (GSD III) is an autosomal recessive metabolic disorder and inborn error of metabolism (specifically of carbohydrates) characterized by a deficiency in glycogen debranching enzymes.
It is also known as Coris disease in honor of the 1947 Nobel laureates Carl Cori and Gerty Cori. Other names include Forbes disease in honor of clinician Gilbert Burnett Forbes (1915–2003), an American physician who further described the features of the disorder, or limit dextrinosis, due to the limit dextrin-like structures in cytosol. Limit dextrin is the remaining polymer produced after hydrolysis of glycogen. Without glycogen debranching enzymes to further convert these branched glycogen polymers to glucose, limit dextrinosis abnormally accumulates in the cytoplasm.Glycogen is a molecule the body uses to store carbohydrate energy. Symptoms of GSD-III are caused by a deficiency of the enzyme amylo-1,6 glucosidase, or debrancher enzyme. This causes excess amounts of an abnormal glycogen to be deposited in the liver, muscles and, in some cases, the heart.

Signs and symptoms
Glycogen storage disease type III presents during infancy with hypoglycemia and failure to thrive.  Clinical examination usually reveals hepatomegaly.  Muscular disease, including hypotonia and cardiomyopathy, usually occurs later. The liver pathology typically regresses as the individual enter adolescence, as does splenomegaly, should the individual so develop it.

Genetics
In regards to genetics glycogen storage disease type III is inherited in an autosomal recessive pattern (which means both parents need be a carrier), and occurs in about 1 of every 100,000 live births.  The highest incidence of glycogen storage disease type III is in the Faroe Islands where it occurs in 1 out of every 3,600 births, probably due to a founder effect. There seem to be two mutations in exon 3 (c.17_18delAG) being one of them, which are linked to the subtype IIIb.The amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase gene and mutations to it, are at the root of this condition. The gene is responsible for creating glycogen debranching enzyme, which in turn helps in glycogen decomposition.

Diagnosis
In terms of the diagnosis for glycogen storage disease type III, the following tests/exams are carried out to determine if the individual has the condition:
Biopsy (muscle or liver)
CBC
Ultrasound
DNA mutation analysis (helps ascertain GSD III subtype)

Differential diagnosis
The differential diagnosis of glycogen storage disease type III includes GSD I, GSD IX and GSD VI. This however does not mean other glycogen storage diseases should not be distinguished as well.

Classification
Clinical manifestations of glycogen storage disease type III are divided into four classes:
GSD IIIa, is the most common, (along with GSD IIIb) and which clinically includes muscle and liver involvement
GSD IIIb, which clinically has liver involvement but no muscle involvement
GSD IIIc  which clinically affects liver and muscle.
GSD IV affects liver only (not muscle)

Treatment
Treatment for glycogen storage disease type III may involve a high-protein diet, in order to facilitate gluconeogenesis. Additionally the individual may need:
IV glucose (if oral route is inadvisable)
Nutritional specialist
Vitamin D (for osteoporosis/secondary complication)
Hepatic transplant (if complication occurs)

References
Further reading
Mayorandan, Sebene; Meyer, Uta; Hartmann, Hans; Das, Anibh Martin (1 January 2014). "Glycogen storage disease type III: modified Atkins diet improves myopathy". Orphanet Journal of Rare Diseases. 9: 196. doi:10.1186/s13023-014-0196-3. ISSN 1750-1172. PMC 4302571. PMID 25431232.
Sentner, Christiaan P.; Hoogeveen, Irene J.; Weinstein, David A.; Santer, René; Murphy, Elaine; McKiernan, Patrick J.; Steuerwald, Ulrike; Beauchamp, Nicholas J.; Taybert, Joanna; Laforêt, Pascal; Petit, François M.; Hubert, Aurélie; Labrune, Philippe; Smit, G </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Cavernous hemangioma and explain in detail? [/INST] Cavernous hemangioma, also called cavernous angioma, venous malformation, or cavernoma, is a type of venous malformation due to endothelial dysmorphogenesis from a lesion which is present at birth. A cavernoma in the brain is called a cerebral cavernous malformation or CCM.  Despite its designation of a hemangioma, a cavernous hemangioma is not a tumor as it does not display endothelial hyperplasia. The abnormal tissue causes a slowing of blood flow through the cavities, or "caverns". The blood vessels do not form the necessary junctions with surrounding cells, and the structural support from the smooth muscle is hindered, causing leakage into the surrounding tissue. It is the leakage of blood, referred to as hemorrhage, that causes a variety of symptoms known to be associated with the condition.

Symptoms
People with this condition in the brain may or may not experience symptoms. Some complications of the condition are life-threatening or cause major disruptions to normal functioning. Dangerous seizures due to compression of the brain, bleeding inside the brain tissue, vision problems, difficulty with speaking or using words, memory loss, ataxia, or hydrocephalus can occur. Less serious symptoms may include headaches and weakness or numbness in the arms or legs, though these symptoms alone do not indicate a person has the condition. In the eye, it may cause disruption or damage to the extraocular muscles and optic nerve which may manifest as double vision, progressive proptosis, decreased visual acuity, or other vision changes. It can lead to partial or complete blindness. When the condition occurs in the liver it usually does not cause symptoms, but some may experience pain in the upper right abdomen, a feeling of fullness after eating only a small amount of food, decreased appetite, nausea, or vomiting.

Presentation
Cavernous hemangiomas can arise nearly anywhere in the body where there are blood vessels.  They are sometimes described as resembling raspberries because of the appearance of bubble-like caverns. Unlike capillary hemangiomas, cavernous ones can be life-threatening and do not regress.

Causes
Most cases of cavernomas are thought to be congenital; however they can develop over the course of a lifetime. While there is no definitive cause, research suggests that genetic mutations result in the condition. Congenital hemangiomas that appear on the skin are known as either vascular or red birthmarks.
Familial cerebral cavernous malformations are known to occur. The mutations may be inherited in an autosomal dominant fashion or occur sporadically. Overall, familial disease is thought to be responsible for one-third to one-half of cases. In the US, approximately 50% of Hispanic patients with cerebral  cavernous malformations have a familial form. In contrast, the familiar form of the condition accounts for only 10 to 20% of cases in Caucasians. The reason for this difference is not presently known.
Several genes – K-Rev interaction trapped 1 (ССМ1), Malcavernin (CCM2) and Programmed cell death protein 10 (ССМ3) – have been identified as having mutations thought to be related to these lesions. These genes are located at 7q21.2 (chromosome 7 long arm), 7p13 (chromosome 7 short arm) and 3q25.2-q27 (chromosome 3 long arm) respectively. These lesions are further discussed in the Online Mendelian Inheritance in Man site – the reference numbers are OMIM 116860, OMIM 603284 and OMIM 603285 respectively.

Variations
Cerebral cavernomas
Cavernous hemangiomas located in the brain or spinal cord are referred to as cerebral cavernomas or more usually as cerebral cavernous malformations (CCMs), and can be found in the white matter, but often abut the cerebral cortex. When they contact the cortex, they can represent a potential seizure focus for the patient. Unlike other cavernous hemangiomas, there is no tissue within the malformation and its borders are not encapsulated. Therefore, they can change in size and number over time.

Liver cavernous hemangioma
Cavernous hemangiomas are erroneously called the most common benign tumors of the liver. Usually one malformation exists, but multiple lesions can occur in the left or right lobe of the liver in 40% of patients. Their sizes can range from a few millimeters to 20 centimetres. Those over 5 cm are often referred to as giant hemangiomas. These lesions are better classified as venous malformations.

Eye cavernous hemangioma
In the eye, it is known as orbital cavernous hemangioma and is found in women more frequently than men, most commonly between the ages of 20–40. This neoplasm is usually located within the muscle cone, which is lateral to the optic nerve. It is not usually treated unless the patient is symptomatic. Visual impairment happens when the optic nerve is compressed or the extraocular muscles are surrounded.

Mechanism
There are several known causes for cavernous hemangiomas, but some cases are still unknown. Radiation treatment used for other medical conditions has been suggested to cause cavernous malformation in some patients.
Hemangioma tumors are a result of rapid proliferation of endothelial cells and pericytic hyperplasia, or the enlargement of tissue as a result of abnormal cell division pericytes. The pathogenesis of hemangioma is still not understood. It has been suggested that growth factors and hormonal influences contribute to the abnormal cell proliferation. Cavernous liver hemangiomas are more commonly diagnosed in women who have been pregnant. As a result of this, it is believed that estrogen levels may play a role in the incidence of liver cavernomas.

Genetic studies show that specific gene mutations or deletions are causes for the disease. The genes identified for cerebral cavernous hemangiomas (or malformations), are CCM1 (also KRIT1), CCM2 (also MGC4607, malcavernin) and CCM3 (also PDCD10). The loss of function of these genes is believed to be responsible for cerebral cavernous malformations. Furthermore, it is also believed that a "second hit mutation" is necessary for the onset of the disease. This means that having a mutation in one of the two genes present on a chromosome is not enough to cause the cavernous malformation, but mutation of both alleles would cause the malformation. Additionally, research on hemangiomas in general has shown that loss of heterozygosity is common in tissue where hemangioma develops. This would confirm that more than a single allele mutation is needed for the abnormal cell proliferation. KRIT1 has been shown to act as a transcription factor in the development of arterial blood vessels in mice. CCM2 has overlapping structure with CCM1 (KRIT1) and acts as a scaffolding protein when expressed. Both genes are involved with MAP3K3 and thus appear to be a part of the same pathway.  CCM2 has been shown to cause embryonic death in mice. Lastly, the CCM3 gene has been shown to have similar expression to CCM1 and CCM2, suggesting a link in its functionality. Currently, no experiments have determined its exact function. The lack of function of these genes in control of a proliferative signaling pathway would result in uncontrolled proliferation and the development of a tumor. In 2018, it was theorized that proliferation of endothelial cells with dysfunctional tight junctions, that are under increased endothelial stress from elevated venous pressure provides the pathophysiological basis for cavernous hemangioma development.

Diagnosis
Gradient-Echo T2WI magnetic resonance imaging (MRI) is most sensitive method for diagnosing cavernous hemangiomas. MRI is such a powerful tool for diagnosis, it has led to an increase in diagnosis of cavernous hemangiomas since the technologys advent in the 1980s. The radiographic appearance is most commonly described as "popcorn" or "mulberry"-shaped.  Computed tomography (CT) scanning is not a sensitive or specific method for diagnosing cavernous hemangiomas. Angiography is typically not necessary, unless it is required to rule out other diagnoses. Additionally, biopsies can be obtained from tumor tissue for examination under a microscope. It is essential to diagnose cavernous hemangioma because treatments for these lesions are less aggressive than that of cancerous tumors, such as angiosarcoma. However, since MRI appearance is practically pathognomonic, biopsy is rarely needed for verification.On ultrasound, cavernous haemangiomas in liver appeared as homogenous, hyperechoic lesions with posterior acoustic enhancement. On CT or MRI scans, it shows peripheral globular/nodular enhancement in the arterial phase, with portions of attenuation of enhancing areas. In the portal venous phase, it shows progressive centripetal enhancement. In delayed phase, it shows retention of contrast. It shows a high signal on T2 weighted images.

Treatment
Asymptomatic lesions may not require treatment but may need to be monitored for any change in the size. A change in size of lesions in the nose, lips, or eyelids can be treated with steroid drugs to slow its progress. Steroids can be taken orally or injected directly into the tumor. Applying pressure to the tumor can also be used to minimize swelling at the site of the hemangioma. A procedure that uses small particles to close off the blood supply is known as sclerotherapy. This allows for tumor shrinkage and less pain. It is possible for the tumor to regrow its blood supply after the procedure has been done. If the lesion caused by the cavernous hemangioma is destroying healthy tissue around it or if the patient is experiencing major symptoms, then surgery can be used to remove the cavernoma piecemeal.  A common complication of the surgery is hemorrhage and the loss of blood. There is also the possibility of the hemangioma reoccurring after its removal. Additionally, the risk of a stroke or death is also possible.Treatments for cerebral cavernous hemangiomas include radiosurgery or microsurgery. The treatment approach depends on the site, size and symptoms present, as well as the history of hemorrhage from the lesion. Microsurgery is generally preferred if the cerebral cavernous hemangioma is superficial in the central nervous system, or the risk of damage to surrounding tissue from irradiation is too high. Additionally, a large hemorrhage with deterioration of the patient or intractable symptoms (such as seizures or coma) are further indications for microsurgical intervention. Gamma-knife radiation is the favored mechanism of radiosurgery. It provides a precise radiation dose to the cerebral cavernous hemangioma while relatively sparing the surrounding tissue. These treatment approaches for cavernous hemangiomas in other regions of the body have limited research.

Prognosis
A few studies have worked on providing details related to the outlook of disease progression. Two studies show that each year 0.5% of people who have never had bleeding from their brain cavernoma, but had symptoms of seizures, were affected by bleeding. In contrast, patients who have had bleeding from their brain cavernoma in the past had a higher risk of being affected by subsequent bleeding. The statistics for this are very broad, ranging from 4–23% a year. Additional studies suggest that women and patients under the age of 40 are at higher risk of bleeding, but similar conducted studies did not reach the same conclusion. However, when cavernous hemangiomas are completely excised, there is very little risk of growth or rebleeding. In terms of life expectancy, not enough data has been collected on patients with this malformation in order to provide a representative statistical analysis.

Epidemiology
The true incidence of cavernous hemangiomas is difficult to estimate because they are frequently misdiagnosed as other venous malformations. Cavernous hemangiomas of the brain and spinal cord (cerebral cavernous hemangiomas (malformations) (CCM)), can appear at all ages but usually occur in the third to fourth decade of a persons life with no sexual preference. In fact, CCM is present in 0.5% of the population. However, approximately 40% of those with malformations have symptoms. Asymptomatic individuals are usually individuals that developed the malformation sporadically, while symptomatic individuals usually have inherited the genetic mutation. The majority of diagnoses of CCM are in adults; however, 25% of cases of CCM are children. Approximately 5% of adults have liver hemangiomas in the United States, but most are asymptomatic </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Adiposogenital dystrophy and explain in detail? [/INST]  </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Adrenocortical adenoma and explain in detail? [/INST] Adrenocortical adenoma is commonly described as a benign neoplasm emerging from the cells that comprise the adrenal cortex. Like most adenomas, the adrenocortical adenoma is considered a benign tumor since the majority of them are non-functioning and asymptomatic. Adrenocortical adenomas are classified as ACTH-independent disorders, and are commonly associated with conditions linked to hyperadrenalism such as Cushings syndrome (hypercortisolism) or Conns syndrome (hyperaldosteronism), which is also known as primary aldosteronism. In addition, recent case reports further support the affiliation of adrenocortical adenomas with hyperandrogenism or florid hyperandrogenism which can cause hyperandrogenic hirsutism in females. "Cushings syndrome" differs from the "Cushings disease" even though both conditions are induced by hypercortisolism. The term "Cushings disease" refers specifically to "secondary hypercortisolism" classified as "ACTH-dependent Cushings syndrome" caused by pituitary adenomas. In contrast, "Cushings syndrome" refers specifically to "primary hypercortisolism" classified as "ACTH-independent Cushings syndrome" caused by adrenal adenomas.

Presentation
Adrenal adenomas are often categorized as endocrine-inactive tumors considering that majority of them are non-functioning and asymptomatic. Functional adrenocortical adenomas demonstrate symptoms consistent with mixed endocrine syndromes. In most reported cases of adrenocortical adenoma, patients have presented with one or multiple endocrine syndromes such as hyperaldosteronism/Conns Syndrome, hypercortisolism/Cushings syndrome, hyperandrogenism/feminization, virilization, or hirsutism. Some of the common symptoms associated with adrenocortical adenomas include:
Musculoskeletal

Osteopenia
Muscle weakness/muscle atrophyCardiovascular

HypertensionEndocrine and Metabolic

Obesity→More prevalent in males

virilization→More prevalent in females

Hyperandrogenism
Irregular menstrual cyclesNeuropsychological

Sleep disorders
DepressionSkin

Easy bruising
Stretch marks
Hirsutism
Acne

Cause
Study of the reported cases indicate that most adrenocortical adenomas occur due to neoplastic proliferation of adrenal cortical cells within the three distinct layers of adrenal cortex. In humans, the adrenal cortex comprises three concentric zones including the zona glomerulosa, zona fasciculata, and zona reticularis that under normal conditions respond to bodys physiological demands for steroid hormones. The adrenal cortex is considered a dynamic organ in which senescent cells are replaced by newly differentiated cells </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Pigmented purpuric dermatosis and explain in detail? [/INST]  </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Obliterating endarteritis and explain in detail? [/INST]  </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Penetrating trauma and explain in detail? [/INST] Penetrating trauma is an open wound injury that occurs when an object pierces the skin and enters a tissue of the body, creating a deep but relatively narrow entry wound. In contrast, a blunt or non-penetrating trauma may have some deep damage, but the overlying skin is not necessarily broken and the wound is still closed to the outside environment.  The penetrating object may  remain in the tissues, come back out the path it entered, or pass through the full thickness of the tissues and exit from another area.A penetrating injury in which an object enters the body or a structure and passes all the way through an exit wound is called a perforating trauma, while the term penetrating trauma implies that the object does not perforate wholly through. In gunshot wounds, perforating trauma is associated with an entrance wound and an often larger exit wound.
Penetrating trauma can be caused by a foreign object or by fragments of a broken bone.  Usually occurring in violent crime or armed combat, penetrating injuries are commonly caused by gunshots and stabbings.Penetrating trauma can be serious because it can damage internal organs and presents a risk of shock and infection.  The severity of the injury varies widely depending on the body parts involved, the characteristics of the penetrating object, and the amount of energy transmitted to the tissues.  Assessment may involve X-rays or CT scans, and treatment may involve surgery, for example to repair damaged structures or to remove foreign objects. Following penetrating trauma, spinal motion restriction is associated with worse outcomes and therefore it should not be done routinely.

Mechanism
As a missile passes through tissue, it decelerates, dissipating and transferring kinetic energy to the tissues. The velocity of the projectile is a more important factor than its mass in determining how much damage is done;  kinetic energy increases with the square of the velocity.  In addition to injury caused directly by the object that enters the body, penetrating injuries may be associated with secondary injuries, due for example to a blast injury.The path of a projectile can be estimated by imagining a line from the entrance wound to the exit wound, but the actual trajectory may vary due to ricochet or differences in tissue density. In a cut, the discolouration and the swelling of the skin from a blow happens because of the ruptured blood vessels and escape of blood and fluid and other injuries that interrupt the circulation.

Cavitation
Permanent
Low-velocity items, such as knives and swords, are usually propelled by a persons hand, and usually do damage only to the area that is directly contacted by the object. The space left by tissue that is destroyed by the penetrating object as it passes through forms a cavity; this is called permanent cavitation.

Temporary
High-velocity objects are usually projectiles such as bullets from high-powered rifles, such as assault rifles or sniper rifles.  Bullets classed as medium-velocity projectiles include those from handguns, shotguns, and submachine guns. In addition to causing damage to the tissues they contact, medium- and high-velocity projectiles cause a secondary cavitation injury: as the object enters the body, it creates a pressure wave which forces tissue out of the way, creating a cavity which can be much larger than the object itself; this is called "temporary cavitation". The temporary cavity is the radial stretching of tissue around the bullets wound track, which momentarily leaves an empty space caused by high pressures surrounding the projectile that accelerate material away from its path.The characteristics of the tissue injured also help determine the severity of the injury; for example, the denser the tissue, the greater the amount of energy transmitted to it. Skin, muscles, and intestines absorb energy and so are resistant to the development of temporary cavitation, while organs such as the liver, spleen, kidney, and brain, which have relatively low tensile strength, are likely to split or shatter because of temporary cavitation. Flexible elastic soft tissues, such as muscle, intestine, skin, and blood vessels, are good energy absorbers and are resistant to tissue stretch.  If enough energy is transferred, the liver may disintegrate. Temporary cavitation can be especially damaging when it affects delicate tissues such as the brain, as occurs in penetrating head trauma.

Location
Head
While penetrating head trauma accounts for only a small percentage of all traumatic brain injuries (TBI), it is associated with a high mortality rate, and only a third of people with penetrating head trauma survive long enough to arrive at a hospital. Injuries from firearms are the leading cause of TBI-related deaths. Penetrating head trauma can cause cerebral contusions and lacerations, intracranial hematomas, pseudoaneurysms, and arteriovenous fistulas. The prognosis for penetrating head injuries varies widely.Penetrating facial trauma can pose a risk to the airway and breathing; airway obstruction can occur later due to swelling or bleeding. Penetrating eye trauma can cause the globe of the eye to rupture or vitreous humor to leak from it, and presents a serious threat to eyesight.

Chest
Most penetrating injuries are chest wounds and have a mortality rate (death rate) of under 10%. Penetrating chest trauma can injure vital organs such as the heart and lungs and can interfere with breathing and circulation.  Lung injuries that can be caused by penetrating trauma include pulmonary laceration (a cut or tear) pulmonary contusion (a bruise), hemothorax (an accumulation of blood in the chest cavity outside of the lung), pneumothorax (an accumulation of air in the chest cavity) and hemopneumothorax (accumulation of both blood and air).  Sucking chest wounds and tension pneumothorax may result.Penetrating trauma can also cause injuries to the heart and circulatory system. When the heart is punctured, it may bleed profusely into the chest cavity if the membrane around it (the pericardium) is significantly torn, or it may cause pericardial tamponade if the pericardium is not disrupted.  In pericardial tamponade, blood escapes from the heart but is trapped within the pericardium, so pressure builds up between the pericardium and the heart, compressing the latter and interfering with its pumping. Fractures of the ribs commonly produce penetrating chest trauma when sharp bone ends pierce tissues.

Abdomen
Penetrating abdominal trauma (PAT) typically arises from stabbings, ballistic injuries (shootings), or industrial accidents.  PAT can be life-threatening because abdominal organs, especially those in the retroperitoneal space, can bleed profusely, and the space can hold a large volume of blood. If the pancreas is injured, it may be further injured by its own secretions, in a process called autodigestion.  Injuries of the liver, common because of the size and location of the organ, present a serious risk for shock because the liver tissue is delicate and has a large blood supply and capacity. The intestines, taking a large part of the lower abdomen, are also at risk of perforation.
People with penetrating abdominal trauma may have signs of hypovolemic shock (insufficient blood in the circulatory system) and peritonitis (an inflammation of the peritoneum, the membrane that lines the abdominal cavity).  Penetration may abolish or diminish bowel sounds due to bleeding, infection, and irritation, and injuries to arteries may cause bruits (a distinctive sound similar to heart murmurs) to be audible.  Percussion of the abdomen may reveal hyperresonance (indicating air in the abdominal cavity) or dullness (indicating a buildup of blood).  The abdomen may be distended or tender, signs which indicate an urgent need for surgery.The standard management of penetrating abdominal trauma was for many years mandatory laparotomy. A greater understanding of mechanisms of injury, outcomes from surgery, improved imaging and interventional radiology has led to more conservative operative strategies being adopted.

Assessment and treatment
Assessment can be difficult because much of the damage is often internal and not visible. The patient is thoroughly examined. X-ray and CT scanning may be used to identify the type and location of potentially lethal injuries </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Iododerma and explain in detail? [/INST]  </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Cowden syndrome and explain in detail? [/INST] Cowden syndrome (also known as Cowdens disease and multiple hamartoma syndrome) is an autosomal dominant inherited condition characterized by benign overgrowths called hamartomas as well as an increased lifetime risk of breast, thyroid, uterine, and other cancers. It is often underdiagnosed due to variability in disease presentation, but 99% of patients report mucocutaneous symptoms by age 20–29. Despite some considering it a primarily dermatologic condition, Cowdens syndrome is a multi-system disorder that also includes neurodevelopmental disorders such as macrocephaly.The incidence of Cowdens disease is about 1 in 200,000, making it quite rare. Furthermore, early and continuous screening is essential in the management of this disorder to prevent malignancies. It is associated with mutations in PTEN on 10q23.3, a tumor suppressor gene otherwise known as phosphatase and tensin homolog, that results in dysregulation of the mTOR pathway leading to errors in cell proliferation, cell cycling, and apoptosis. The most common malignancies associated with the syndrome are adenocarcinoma of the breast (20%), followed by adenocarcinoma of the thyroid (7%), squamous cell carcinomas of the skin (4%), and the remaining from the colon, uterus, or others (1%).

Signs and symptoms
As Cowdens disease is a multi-system disorder, the physical manifestations are broken down by organ system:
Skin
Adolescent patients affected with Cowden syndrome develop characteristic lesions called trichilemmomas, which typically develop on the face, and verrucous papules around the mouth and on the ears. Oral papillomas are also common. Furthermore, shiny palmar keratoses with central dells are also present. At birth or in childhood, classic features of Cowdens include pigmented genital lesions, lipomas, epidermal nevi, and cafe-au-lait spots. Squamous cell carcinomas of the skin may also occur.Thyroid
Two thirds of patients have thyroid disorders, and these typically include benign follicular adenomas or multinodular goiter of the thyroid. Additionally, Cowdens patients are more susceptible to developing thyroid cancer than the general population. It is estimated that less than 10 percent of individuals with Cowden syndrome may develop follicular thyroid cancer. Cases of papillary thyroid cancer have been reported as well.Female and Male Genitourinary
Females have an elevated risk of developing endometrial cancers, which is highest for those under the age of 50. Currently, it is not clear whether uterine leiomyomata (fibroids) or congenital genitourinary abnormalities occur at an increased rate in Cowden syndrome patients as compared to the general population. The occurrence of multiple testicular lipomas, or testicular lipomatosis, is a characteristic finding in male patients with Cowden syndrome.Gastrointestinal
Polyps are extremely common as they are found in about 95% of Cowden syndrome patients undergoing a colonoscopy. They are numerous ranging from a few to hundreds, usually of the hamartomatous subtype, and distributed across the colon as well as other areas within the gastrointestinal tract. Other types of polyps that may be encountered less frequently include ganglioneuromatous, adenomatous, and lymphoid polyps. Diffuse glycogenic acanthosis of the esophagus is another gastrointestinal manifestation associated with Cowden syndrome.Breast
Females are at an increased risk of developing breast cancer, which is the most common malignancy observed in Cowdens patients. Although some cases have been reported, there is not enough evidence to indicate an association between Cowden syndrome and the development of male breast cancer. Up to 75% demonstrate benign breast conditions such as intraductal papillomatosis, fibroadenomas, and fibrocystic changes. However, there is currently not enough evidence to determine if benign breast disease occurs more frequently in Cowdens patients as compared to individuals without a hereditary cancer syndrome.Central Nervous System
Macrocephaly is observed in 84% of patients with Cowden syndrome. It typically occurs due to an abnormally enlarged brain, or megalencephaly. Patients may also exhibit dolichocephaly. Varying degrees of autism spectrum disorder and intellectual disability have been reported as well. Lhermitte-Duclos disease is a benign cerebellar tumor that typically does not manifest until adulthood in patients with Cowden syndrome.

Genetics
Cowden syndrome is inherited in an autosomal dominant fashion. Germline mutations in PTEN (phosphatase and tensin homolog), a tumor suppressor gene, are found in up to 80% of Cowdens patients. Several other hereditary cancer syndromes, such as Bannayan-Riley-Ruvalcaba syndrome, have been associated with mutations in the PTEN gene as well. PTEN negatively regulates the cytoplasmic receptor tyrosine kinase pathway, which is responsible for cell growth and survival, and also functions to repair errors in DNA. Thus, in the absence of this protein, cancerous cells are more likely to develop, survive, and proliferate.Recently, it was discovered that germline heterozygous mutations in SEC23B, a component of coat protein complex II vesicles secreted from the endoplasmic reticulum, are associated with Cowden syndrome. A possible interplay between PTEN and SEC23B has recently been suggested, given emerging evidence of each having a role in ribosome biogenesis, but this has not been conclusively determined.

Diagnosis
The revised clinical criteria for the diagnosis of Cowdens syndrome for an individual is dependent on either one of the following: 1) 3 major criteria are met or more that must include macrocephaly, Lhermitte-Duclos, or GI hamartomas 2) two major and three minor criteria. The major and minor criteria are listed below:

Screening
The management of Cowden syndrome centers on the early detection and prevention of cancer types that are known to occur as part of this syndrome </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Oncogenic osteomalacia and explain in detail? [/INST] Oncogenic osteomalacia, also known as oncogenic hypophosphatemic osteomalacia, is an uncommon disorder resulting in increased renal phosphate excretion, hypophosphatemia and osteomalacia. It may be caused by a phosphaturic mesenchymal tumor.

Signs and symptoms
Adult patients may present with worsening musculoskeletal symptoms, muscle weakness, myalgias, bone pains and fatigue which are followed by recurrent fractures. Children present with difficulty in walking, stunted growth and deformities of the skeleton (features of rickets). There can also be a significant delay between the beginning of symptoms to diagnosis, which research reflects as being between 2.5 to 28 years.

Cause
Tumor-induced osteomalacia is usually referred to as a paraneoplastic phenomenon, however, the tumors are usually benign and the symptomatology is due to osteomalacia or rickets. A benign mesenchymal or mixed connective tissue tumor (usually phosphaturic mesenchymal tumor and hemangiopericytoma) are the most common associated tumors. Association with mesenchymal malignant tumors, such as osteosarcoma and fibrosarcoma, has also been reported.
Locating the tumor can prove to be difficult and may require whole body MRI. Some of the tumors express somatostatin receptors and may be located by octreotide scanning.
A phosphaturic mesenchymal tumor is an extremely rare benign neoplasm of soft tissue and bone that inappropriately produces fibroblast growth factor 23. This tumor may cause tumor-induced osteomalacia, a paraneoplastic syndrome, by the secretion of FGF23, which has phosphaturic activity (by inhibition of renal tubular reabsorption of phosphate and renal conversion of 25-hydroxyvitamin D to 1,25-dihydroxyvitamin D). The paraneoplastic effects can be debilitating and are only reversed on discovery and surgical resection of the tumor.

Pathogenesis
FGF23 (fibroblast growth factor 23) inhibits phosphate transport in the renal tubule and reduces calcitriol production by the kidney. Tumor production of FGF23, Secreted frizzled-related protein 4 and matrix extracellular phosphoglycoprotein (MEPE) have all been identified as possible causative agents for the hypophosphatemia.

Diagnosis
Biochemical studies reveal hypophosphatemia (low blood phosphate), elevated alkaline phosphatase and low serum 1,25 dihydroxyvitamin D levels. Routine laboratory tests may not include serum phosphate levels and this can result in considerable delay in diagnosis. Even when low phosphate is measured, its significance is often overlooked </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Cataract and explain in detail? [/INST] A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colors, blurry or double vision, halos around light, trouble with bright lights, and trouble seeing at night. This may result in trouble driving, reading, or recognizing faces. Poor vision caused by cataracts may also result in an increased risk of falling and depression. Cataracts cause half of all cases of blindness and 33% of visual impairment worldwide.Cataracts are most commonly due to aging but may also occur due to trauma or radiation exposure, be present from birth, or occur following eye surgery for other problems. Risk factors include diabetes, longstanding use of corticosteroid medication, smoking tobacco, prolonged exposure to sunlight, and alcohol. The underlying mechanism involves accumulation of clumps of protein or yellow-brown pigment in the lens that reduces transmission of light to the retina at the back of the eye. Diagnosis is by an eye examination.Prevention includes wearing sunglasses and a wide brimmed hat, eating leafy vegetables and fruits, and avoiding smoking. Early on the symptoms may be improved with glasses. If this does not help, surgery to remove the cloudy lens and replace it with an artificial lens is the only effective treatment. Cataract surgery is not readily available in many countries, and surgery is needed only if the cataracts are causing problems and generally results in an improved quality of life.About 20 million people worldwide are blind due to cataracts. It is the cause of approximately 5% of blindness in the United States and nearly 60% of blindness in parts of Africa and South America. Blindness from cataracts occurs in about 10 to 40 per 100,000 children in the developing world, and 1 to 4 per 100,000 children in the developed world. Cataracts become more common with age. In the United States, cataracts occur in 68% of those over the age of 80 years. Additionally they are more common in women, and less common in Hispanic and Black people.

Signs and symptoms
Signs and symptoms vary depending on the type of cataract, though considerable overlap occurs. People with nuclear sclerotic or brunescent cataracts often notice a reduction of vision. Nuclear cataracts typically cause greater impairment of distance vision than of near vision. Those with posterior subcapsular cataracts usually complain of glare as their major symptom.The severity of cataract formation, assuming no other eye disease is present, is judged primarily by a visual acuity test. Other symptoms include frequent changes of glasses and colored halos due to hydration of lens.Congenital cataracts can result in amblyopia if not treated in a timely manner.

Causes
Age
Age is the most common cause of cataracts. Lens proteins denature and degrade over time, and this process is accelerated by diseases such as diabetes mellitus and hypertension. Environmental factors, including toxins, radiation, and ultraviolet light have cumulative effects which are worsened by the loss of protective and restorative mechanisms due to alterations in gene expression and chemical processes within the eye.Oxidative stress is an important pathogenic mechanism in cataract formation (see for review).  Senile cataracts are associated with a decrease in antioxidant capacity in the lens.  An increase in oxidative stress in the lens or a decrease in the ability to remove reactive oxygen species can lead to the lens becoming more opaque.

Trauma
Blunt trauma causes swelling, thickening, and whitening of the lens fibers. While the swelling normally resolves with time, the white color may remain. In severe blunt trauma, or in injuries that penetrate the eye, the capsule in which the lens sits can be damaged. This damage allows fluid from other parts of the eye to rapidly enter the lens leading to swelling and then whitening, obstructing light from reaching the retina at the back of the eye. Cataracts may develop in 0.7 to 8.0% of cases following electrical injuries. Blunt trauma can also result in star- (stellate) or petal-shaped cataracts.

Radiation
Cataracts can arise as an effect of exposure to various types of radiation. X-rays, one form of ionizing radiation, may damage the DNA of lens cells. Ultraviolet light, specifically UVB, has also been shown to cause cataracts, and some evidence indicates sunglasses worn at an early age can slow its development in later life. Microwaves, a type of nonionizing radiation, may cause harm by denaturing protective enzymes (e.g., glutathione peroxidase), by oxidizing protein thiol groups (causing protein aggregation), or by damaging lens cells via thermoelastic expansion.  The protein coagulation caused by electric and heat injuries whitens the lens. This same process is what makes the clear albumen of an egg become white and opaque during cooking.

Genetics
The genetic component is strong in the development of cataracts, most commonly through mechanisms that protect and maintain the lens. The presence of cataracts in childhood or early life can occasionally be due to a particular syndrome. Examples of  chromosome abnormalities associated with cataracts include 1q21.1 deletion syndrome, cri-du-chat syndrome, Down syndrome, Pataus syndrome, trisomy 18 (Edwards syndrome), and Turners syndrome, and in the case of neurofibromatosis type 2, juvenile cataract on one or both sides may be noted. Examples of single-gene disorder include Alports syndrome, Conradis syndrome, cerebrotendineous xanthomatosis, myotonic dystrophy, and oculocerebrorenal syndrome or Lowe syndrome.

Skin diseases
The skin and the lens have the same embryological origin and so can be affected by similar diseases. Those with atopic dermatitis and eczema occasionally develop shield ulcer cataracts. Ichthyosis is an autosomal recessive disorder associated with cuneiform cataracts and nuclear sclerosis. Basal-cell nevus and pemphigus have similar associations.

Smoking and alcohol
Cigarette smoking has been shown to double the rate of nuclear sclerotic cataracts and triple the rate of posterior subcapsular cataracts. Evidence is conflicting over the effect of alcohol. Some surveys have shown a link, but others which followed people over longer terms have not.

Inadequate vitamin C
Low vitamin C intake and serum levels have been associated with greater cataract rates. However, use of supplements of vitamin C has not demonstrated benefit.

Medications
Some medications, such as systemic, topical, or inhaled corticosteroids, may increase the risk of cataract development. Corticosteroids most commonly cause posterior subcapsular cataracts. People with schizophrenia often have risk factors for lens opacities (such as diabetes, hypertension, and poor nutrition) but antipsychotic medications are unlikely to contribute to cataract formation. Miotics and triparanol may increase the risk.

Post-operative
Nearly every person who undergoes a vitrectomy—without ever having had cataract surgery—will experience progression of nuclear sclerosis after the operation. This may be because the native vitreous humor is different from the solutions used to replace the vitreous (vitreous substitutes), such as BSS Plus. This may also be because the native vitreous humour contains ascorbic acid which helps neutralize oxidative damage to the lens and because conventional vitreous substitutes do not contain ascorbic acid. Accordingly, for phakic patients requiring a vitrectomy it is becoming increasingly common for ophthalmologists to offer the vitrectomy combined with prophylactic cataract surgery to prevent cataract formation.

Other diseases
Diagnosis
Classification
Cataracts may be partial or complete, stationary or progressive, hard or soft.  Histologically, the main types of age-related cataracts are nuclear sclerosis, cortical, and posterior subcapsular.Nuclear sclerosis is the most common type of cataract, and involves the central or nuclear part of the lens. This eventually becomes hard, or sclerotic, due to condensation on the lens nucleus and the deposition of brown pigment within the lens. In its advanced stages, it is called a brunescent cataract. In early stages, an increase in sclerosis may cause an increase in refractive index of the lens. This causes a myopic shift (lenticular shift) that decreases hyperopia and enables presbyopic patients to see at near without reading glasses. This is only temporary and is called second sight.Cortical cataracts are due to the lens cortex (outer layer) becoming opaque. They occur when changes in the fluid contained in the periphery of the lens causes fissuring. When these cataracts are viewed through an ophthalmoscope, or other magnification system, the appearance is similar to white spokes of a wheel. Symptoms often include problems with glare and light scatter at night.Posterior subcapsular cataracts are cloudy at the back of the lens adjacent to the capsule (or bag) in which the lens sits. Because light becomes more focused toward the back of the lens, they can cause disproportionate symptoms for their size.An immature cataract has some transparent protein, but with a mature cataract, all the lens protein is opaque. In a hypermature or Morgagnian cataract, the lens proteins have become liquid. Congenital cataract, which may be detected in adulthood, has a different classification and includes lamellar, polar, and sutural cataracts.Cataracts can be classified by using the lens opacities classification system LOCS III.  In this system, cataracts are classified based on type as nuclear, cortical, or posterior.  The cataracts are further classified based on severity on a scale from 1 to 5.  The LOCS III system is highly reproducible.

Prevention
Risk factors such as UVB exposure and smoking can be addressed. Although no means of preventing cataracts has been scientifically proven, wearing sunglasses that counteract ultraviolet light may slow their development. While adequate intake of vitamins A, C, and E may protect against the risk of cataracts, clinical trials have shown no benefit from supplements, although the evidence is mixed, but weakly positive, for a potential protective effect of the carotenoids, lutein and zeaxanthin.

Treatment
Surgical
The appropriateness of surgery depends on a persons particular functional and visual needs and other risk factors. Cataract removal can be performed at any stage and no longer requires ripening of the lens. Surgery is usually "outpatient" and usually performed using local anesthesia. About 9 of 10 patients can achieve a corrected vision of 20/40 or better after surgery.Several recent evaluations found that cataract surgery can meet expectations only when significant functional impairment due to cataracts exists before surgery. Visual function estimates such as VF-14 have been found to give more realistic estimates than visual acuity testing alone. In some developed countries, a trend to overuse cataract surgery has been noted, which may lead to disappointing results.Phacoemulsification is the most widely used cataract surgery in the developed world. This procedure uses ultrasonic energy to emulsify the cataract lens. Phacoemulsification typically comprises six steps:
Anaesthetic – The eye is numbed with either a subtenon injection around the eye (see: retrobulbar block) or topical anesthetic eye drops. The former also provides paralysis of the eye muscles.
Corneal incision – Two cuts are made at the margin of the clear cornea to allow insertion of instruments into the eye.
Capsulorhexis – A needle or small pair of forceps is used to create a circular hole in the capsule in which the lens sits.
Phacoemulsification – A handheld ultrasonic probe is used to break up and emulsify the lens into liquid using the energy of ultrasound waves.  The resulting emulsion is sucked away.
Irrigation and aspiration – The cortex, which is the soft outer layer of the cataract, is aspirated or sucked away. Fluid removed is continually replaced with a saline solution to prevent collapse of the structure of the anterior chamber (the front part of the eye).
Lens insertion – A plastic, foldable lens is inserted into the capsular bag that formerly contained the natural lens. Some surgeons also inject an antibiotic into the eye to reduce the risk of infection. The final step is to inject salt water into the corneal wounds to cause the area to swell and seal the incision.A Cochrane review found little to no difference in visual acuity as a function of the size of incisions made for phacoemulsification in the range from ≤ 1.5 mm to 3.0 mm. Extracapsular cataract extraction (ECCE) consists of removing the lens manually, but leaving the majority of the capsule intact. The lens is expressed through a 10- to 12-mm incision which is closed with sutures at the end of surgery. ECCE is less frequently performed than phacoemulsification, but can be useful when dealing with very hard cataracts or other situations where emulsification is problematic. Manual small incision cataract surgery (MSICS) has evolved from ECCE. In MSICS, the lens is removed through a self-sealing scleral tunnel wound in the sclera which, ideally, is watertight and does not require suturing. Although "small", the incision is still markedly larger than the portal in phacoemulsion. This surgery is increasingly popular in the developing world where access to phacoemulsification is still limited.Intracapsular cataract extraction (ICCE) is rarely performed. The lens and surrounding capsule are removed in one piece through a large incision while pressure is applied to the vitreous membrane. The surgery has a high rate of complications.

Prognosis
Postoperative care
The postoperative recovery period (after removing the cataract) is usually short. The patient is usually ambulatory on the day of surgery, but is advised to move cautiously and avoid straining or heavy lifting for about a month. The eye is usually patched on the day of surgery and use of an eye shield at night is often suggested for several days after surgery.In all types of surgery, the cataractous lens is removed and replaced with an artificial lens, known as an intraocular lens, which stays in the eye permanently. Intraocular lenses are usually monofocal, correcting for either distance or near vision. Multifocal lenses may be implanted to improve near and distance vision simultaneously, but these lenses may increase the chance of unsatisfactory vision.

Complications
Serious complications of cataract surgery include retinal detachment and endophthalmitis. In both cases, patients notice a sudden decrease in vision. In endophthalmitis, patients often describe pain. Retinal detachment frequently presents with unilateral visual field defects, blurring of vision, flashes of light, or floating spots.The risk of retinal detachment was estimated as about 0.4% within 5.5 years, corresponding to a 2.3-fold risk increase compared to naturally expected incidence, with older studies reporting a substantially higher risk. The incidence is increasing over time in a somewhat linear manner, and the risk increase lasts for at least 20 years after the procedure. Particular risk factors are younger age, male sex, longer axial length, and complications during surgery. In the highest risk group of patients, the incidence of pseudophakic retinal detachment may be as high as 20%.The risk of endophthalmitis occurring after surgery is less than one in 1000.Corneal edema and cystoid macular edema are less serious but more common, and occur because of persistent swelling at the front of the eye in corneal edema or back of the eye in cystoid macular edema. They are normally the result of excessive inflammation following surgery, and in both cases, patients may notice blurred, foggy vision. They normally improve with time and with application of anti-inflammatory drops. The risk of either occurring is around one in 100. It is unclear whether NSAIDs or corticosteroids are superior at reducing postoperative inflammation.Posterior capsular opacification, also known as after-cataract, is a condition in which months or years after successful cataract surgery, vision deteriorates or problems with glare and light scattering recur, usually due to thickening of the back or posterior capsule surrounding the implanted lens, so-called posterior lens capsule opacification. Growth of natural lens cells remaining after the natural lens was removed may be the cause, and the younger the patient, the greater the chance of this occurring. Management involves cutting a small, circular area in the posterior capsule with targeted beams of energy from a laser, called Nd:YAG laser capsulotomy, after the type of laser used. The laser can be aimed very accurately, and the small part of the capsule which is cut falls harmlessly to the bottom of the inside of the eye. This procedure leaves sufficient capsule to hold the lens in place, but removes enough to allow light to pass directly through to the retina. Serious side effects are rare. Posterior capsular opacification is common and occurs following up to one in four operations, but these rates are decreasing following the introduction of modern intraocular lenses together with a better understanding of the causes.Vitreous touch syndrome is a possible complication of intracapsular cataract extraction.

Epidemiology
Age-related cataracts are responsible for 51% of world blindness, about 20 million people. Globally, cataracts cause moderate to severe disability in 53.8 million (2004), 52.2 million of whom are in low and middle income countries.In many countries, surgical services are inadequate, and cataracts remain the leading cause of blindness. Even where surgical services are available, low vision associated with cataracts may still be prevalent as a result of long waits for, and barriers to, surgery, such as cost, lack of information and transportation problems.
In the United States, age-related lens changes have been reported in 42% between the ages of 52 and 64, 60% between the ages 65 and 74, and 91% between the ages of 75 and 85. Cataracts affect nearly 22 million Americans age 40 and older. By age 80, more than half of all Americans have cataracts. Direct medical costs for cataract treatment are estimated at $6.8 billion annually.In the eastern Mediterranean region, cataracts are responsible for over 51% of blindness. Access to eye care in many countries in this region is limited. Childhood-related cataracts are responsible for 5–20% of world childhood blindness.

History
Cataract surgery was first described by the Ayurvedic physician, Suśruta (about 5th century BCE) in Sushruta Samhita in ancient India. Most of the methods mentioned focus on hygiene. Follow-up treatments include bandaging of the eye and covering the eye with warm butter. References to cataracts and their treatment in Ancient Rome are also found in 29 AD in De Medicinae, the work of the Latin encyclopedist Aulus Cornelius Celsus. Archaeological evidence of eye surgery in the Roman era also exists.Galen of Pergamon (ca. 2nd century CE), a prominent Greek physician, surgeon and philosopher, performed an operation similar to modern cataract surgery </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Hereditary coproporphyria and explain in detail? [/INST] Hereditary coproporphyria (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic porphyria.  HCP is caused by a deficiency of the enzyme coproporphyrinogen oxidase, coded for by the CPOX gene, and is inherited in an autosomal dominant fashion, although homozygous individuals have been identified.  Unlike acute intermittent porphyria, individuals with HCP can present with cutaneous findings similar to those found in porphyria cutanea tarda in addition to the acute attacks of abdominal pain, vomiting and neurological dysfunction characteristic of acute porphyrias. Like other porphyrias, attacks of HCP can be induced by certain drugs, environmental stressors or diet changes.  Biochemical and molecular testing can be used to narrow down the diagnosis of a porphyria and identify the specific genetic defect.  Overall, porphyrias are rare diseases.  The combined incidence for all forms of the disease has been estimated at 1:20,000.  The exact incidence of HCP is difficult to determine, due to its reduced penetrance.

Signs and symptoms
Clinically, patients affected with HCP present similarly to those with other acute porphyrias, such as acute intermittent porphyria (AIP) and variegate porphyria (VP).  Patients with HCP and VP can present with symptoms shared between the acute and cutaneous porphyrias.  This includes the acute attacks of abdominal pain, nausea, vomiting, diarrhea, tachycardia, hypertension and seizures, as well as the cutaneous findings seen in porphyria cutanea tarda (PCT), namely increased skin fragility, bullous lesions after exposure to sunlight and increased scarring.Individuals with HCP may be asymptomatic in the absence of triggering factors.  Common triggers include certain drugs, alcohol, hormonal changes, and dietary changes. Sunlight and other ultraviolet light can trigger the skin manifestations.  Homozygous individuals for CPOX mutations can present with these findings at an earlier age than heterozygotes.

Genetics
HCP is caused by mutations in CPOX, which codes for the enzyme coproporphyrinogen oxidase.  This enzyme is responsible for the sixth step in the heme biosynthetic pathway, converting coproporphyrinogen III to protoporphyrinogen IX.   CPOX is located at 3q11.2-q12.1, has 6 introns and 7 exons and produces an mRNA strand that is 2675 bases in length.  It is inherited in an autosomal dominant fashion, meaning that a deficiency of 50% of the normal enzyme activity is enough to cause symptoms.  As reproductive fitness is not impacted, homozygous affected individuals have been reported.  Along with other acute porphyrias HCP demonstrates reduced penetrance, meaning not all individuals who carry a disease-causing mutation will express symptoms.Individuals who are homozygous for a specific mutation (K404E) or compound heterozygous with a null allele in CPOX have a more severe erythropoietic porphyria, harderoporphyria, characterized by neonatal jaundice, hyperbilirubinemia, hepatosplenomegaly and skin lesions upon exposure to ultraviolet light.  HCP is a rare disease, but the exact incidence is difficult to determine due to the reduced penetrance of the acute porphyrias.  Overall, the incidence of all porphyrias is estimated at 1:20,000 in the United States.  The incidence of harderoporphyria is even lower, with less than 10 cases reported worldwide.

Diagnosis
The diagnosis of any porphyria is often delayed due to the rarity of the disease as well as the varied and non-specific findings that patients present with.  Bedside measurement of urine porphobilinogen is recommended as a screening test for patients suspected of having an acute porphyria.  Elevated porphobilinogen is indicative of an acute porphyria, and additional testing can be done to narrow down the specific type.The identification of a specific porphyria is based on the results of laboratory findings, including blood, urine and stool tests.  HCP can be distinguished from most other acute porphyrias by the cutaneous findings.  VP presents similarly, but can be distinguished based on urine and stool porphyrin analysis, typically done using high performance liquid chromatography with fluorescence detection.  The results of biochemical testing for porphyrias are most informative when samples are collected during an acute attack.  Typically, the distinguishing metabolite for HCP and VP is the presence of protoporphyrin in the plasma and feces of individuals affected with VP.Elevated coproporphyrin is a common finding in urine, known as coproporphyrinuria as it is the predominant porphyrin species in urine.  This is a non-specific finding that is not necessarily due to an acute porphyria.  Coproporphyrinuria can be caused by other stressors to the heme biosynthetic pathway, such as liver disease, lead poisoning and certain bone marrow disorders.

Treatment
There is no cure for HCP caused by the deficient activity of coproporphyrinogen oxidase.  Treatment of the acute symptoms of HCP is the same as for other acute porphyrias </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Dehydration and explain in detail? [/INST] In physiology, dehydration is a lack of total body water, with an accompanying disruption of metabolic processes. It occurs when free water loss exceeds free water intake, usually due to exercise, disease, or high environmental temperature. Mild dehydration can also be caused by immersion diuresis, which may increase risk of decompression sickness in divers.
Most people can tolerate a 3-4% decrease in total body water without difficulty or adverse health effects. A 5-8% decrease can cause fatigue and dizziness. Loss of over ten percent of total body water can cause physical and mental deterioration, accompanied by severe thirst. Death occurs at a loss of between fifteen and twenty-five percent of the body water. Mild dehydration is characterized by thirst and general discomfort and is usually resolved with oral rehydration.
Dehydration can cause hypernatremia (high levels of sodium ions in the blood) and is distinct from hypovolemia (loss of blood volume, particularly blood plasma).

Signs and symptoms
The hallmarks of dehydration include thirst and neurological changes such as headaches, general discomfort, loss of appetite, decreased urine volume (unless polyuria is the cause of dehydration), confusion, unexplained tiredness, purple fingernails, and seizures. The symptoms of dehydration become increasingly severe with greater total body water loss. A body water loss of 1-2%, considered mild dehydration, is shown to impair cognitive performance. While in people over age 50, the bodys thirst sensation diminishes with age, a study found that there was no difference in fluid intake between young and old people. Many older people have symptoms of dehydration. Dehydration contributes to morbidity in the elderly population, especially during conditions that promote insensible free water losses, such as hot weather. A Cochrane review on this subject defined water-loss dehydration as "people with serum osmolality of 295 mOsm/kg or more" and found that the main symptom in the elderly (people aged over 65) was fatigue.

Cause
Risk factors for dehydration include but are not limited to: exerting oneself in hot and humid weather, habitation at high altitudes, endurance athletics, elderly adults, infants, children and people living with chronic illnesses.Dehydration can also come as a side effect from many different types of drugs and medications.In the elderly, blunted response to thirst or inadequate ability to access free water in the face of excess free water losses (especially hyperglycemia related) seem to be the main causes of dehydration. Excess free water or hypotonic water can leave the body in two ways – sensible loss such as osmotic diuresis, sweating, vomiting and diarrhea, and insensible water loss, occurring mainly through the skin and respiratory tract. In humans, dehydration can be caused by a wide range of diseases and states that impair water homeostasis in the body. These occur primarily through either impaired thirst/water access or sodium excess.

Diagnosis
Definition
Dehydration occurs when water intake does not replace free water lost due to normal physiologic processes, including breathing, urination, perspiration, or other causes, including diarrhea, and vomiting. Dehydration can be life-threatening when severe and lead to seizures or respiratory arrest, and also carries the risk of osmotic cerebral edema if rehydration is overly rapid.The term "dehydration" has sometimes been used incorrectly as a proxy for the separate, related condition of hypovolemia, which specifically refers to a decrease in volume of blood plasma. The two are regulated through independent mechanisms in humans; the distinction is important in guiding treatment.

Prevention
For routine activities, thirst is normally an adequate guide to maintain proper hydration. Minimum water intake will vary individually depending on weight, environment, diet, and genetics. With exercise, exposure to hot environments, or a decreased thirst response, additional water may be required. In athletes in competition, drinking to thirst optimizes performance and safety, despite weight loss, and as of 2010, there was no scientific study showing that it is beneficial to stay ahead of thirst and maintain weight during exercise.In warm or humid weather, or during heavy exertion, water loss can increase markedly, because humans have a large and widely variable capacity for sweating. Whole-body sweat losses in men can exceed 2 L/h during competitive sport, with rates of 3–4 L/h observed during short-duration, high-intensity exercise in the heat. When such large amounts of water are being lost through perspiration, electrolytes, especially sodium, are also being lost.In most athletes exercising and sweating for 4–5 hours with a sweat sodium concentration of less than 50 mmol/L, the total sodium lost is less than 10% of total body stores (total stores are approximately 2,500 mmol, or 58 g for a 70-kg person). These losses appear to be well tolerated by most people. The inclusion of sodium in fluid replacement drinks has some theoretical benefits and poses little or no risk, so long as these fluids are hypotonic (since the mainstay of dehydration prevention is the replacement of free water losses).

Treatment
The most effective treatment for minor dehydration is widely considered to be drinking water and reducing fluid loss. Plain water restores only the volume of the blood plasma, inhibiting the thirst mechanism before solute levels can be replenished </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Perineal hernia and explain in detail? [/INST] Perineal hernia is a hernia involving the perineum (pelvic floor).  The hernia may contain fluid, fat, any part of the intestine, the rectum, or the bladder.  It is known to occur in humans, dogs, and other mammals, and often appears as a sudden swelling to one side (sometimes both sides) of the anus.
A common cause of perineal hernia is surgery involving the perineum.  Perineal hernia can be caused also by excessive straining to defecate.  Other causes include prostate or urinary disease, constipation, anal sac disease (in dogs), and diarrhea.  Atrophy of the levator ani muscle and disease of the pudendal nerve may also contribute to a perineal hernia.

In humans
In humans, a major cause of perineal hernia is perineal surgery without adequate reconstruction.  In some cases, particularly surgeries to remove the coccyx and distal sacrum, adequate reconstruction is very difficult to achieve.  The posterior perineum is a preferred point of access for surgery in the pelvic cavity, particularly in the presacral space.  Surgeries here include repair of rectal prolapse and anterior meningocele, radical perineal prostatectomy, removal of tumors including sacrococcygeal teratoma, and coccygectomy.  Perineal hernia is a common complication of coccygectomy in adults, but not in infants and children (see coccygectomy).
The standard surgical technique for repair of perineal hernia uses a prosthetic mesh, but this technique has a high rate of failure due to insufficient anchoring.  Promising techniques to reduce the rate of failure include an orthopedic anchoring system, a gluteus maximus muscle flap, an acellular human dermis graft, and an acellular pig collagen graft.

In dogs and cats

In dogs, perineal hernia usually is found on the right side.  Most cases are in older intact (not neutered) male dogs (93 percent in one study) </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Borderline lepromatous leprosy and explain in detail? [/INST]  </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Road rash and explain in detail? [/INST]  </s>


<s> [INST] <<SYS>> You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information. <</SYS>> What is Sturge–Weber syndrome and explain in detail? [/INST] Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, intellectual disability, and ipsilateral leptomeningeal angioma (cerebral malformations and tumors). Sturge–Weber syndrome can be classified into three different types. Type 1 includes facial and leptomeningeal angiomas as well as the possibility of glaucoma or choroidal lesions. Normally, only one side of the brain is affected. This type is the most common. Type 2 involvement includes a facial angioma (port wine stain) with a possibility of glaucoma developing. There is no evidence of brain involvement. Symptoms can show at any time beyond the initial diagnosis of the facial angioma. The symptoms can include glaucoma, cerebral blood flow abnormalities and headaches. More research is needed on this type of Sturge–Weber syndrome. Type 3 has leptomeningeal angioma involvement exclusively. The facial angioma is absent and glaucoma rarely occurs. This type is only diagnosed via brain scan.Sturge–Weber is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. Unlike other neurocutaneous disorders (phakomatoses), Sturge–Weber occurs sporadically (i.e., does not have a hereditary cause). It is caused by a mosaic, somatic activating mutation occurring in the GNAQ gene. Imaging findings may include tram track calcifications on CT, pial angiomatosis, and hemicerebral atrophy.

Signs and symptoms
Sturge–Weber syndrome is usually manifested at birth by a port-wine stain on the forehead and upper eyelid of one side of the face, or the whole face. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the ophthalmic branch of the trigeminal nerve, just under the surface of the face. There is also malformation of blood vessels in the pia mater overlying the brain on the same side of the head as the birthmark. This causes calcification of tissue and loss of nerve cells in the cerebral cortex.Neurological signs include seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark, and vary in severity. There may also be muscle weakness on the side of the body opposite the birthmark.Some children will have developmental delays and cognitive delays; about 50% will have glaucoma (optic neuropathy often associated with increased intraocular pressure), which can be present at birth or develop later. Glaucoma can be expressed as leukocoria, which should suggest further evaluation for retinoblastoma. Increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos).Sturge–Weber syndrome rarely affects other body organs.

Cause
The blood vessel formations associated with SWS start in the fetal stage. Around the sixth week of development, a network of nerves develops around the area that will become a babys head. Normally, this network goes away in the ninth week of development. In babies with SWS due to mutation of gene GNAQ, this network of nerves doesnt go away. This reduces the amount of oxygen and blood flowing to the brain, which can affect brain tissue development.

Diagnosis
CT and MRI are most often used to identify intracranial abnormalities. When a child is born with a facial cutaneous vascular malformation covering a portion of the upper or the lower eyelids, imaging should be performed to screen for intracranial leptomeningeal angiomatosis. The haemangioma present on the surface of the brain is in the vast majority of cases on the same side as the birth mark and gradually results in calcification of the underlying brain and atrophy of the affected region.

Treatment
Treatment for Sturge–Weber syndrome is symptomatic. Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. Doctors recommend early monitoring for glaucoma, and surgery may be performed on more serious cases.  When one side of the brain is affected and anticonvulsants prove ineffective, the standard treatment is neurosurgery to remove or disconnect the affected part of the brain (hemispherectomy). Physical therapy should be considered for infants and children with muscle weakness. Educational therapy is often prescribed for those with intellectual disability or developmental delays, but there is no complete treatment for the delays.
Brain surgery involving removing the portion of the brain that is affected by the disorder can be successful in controlling the seizures so that the patient has only a few seizures that are much less intense than pre-surgery. Surgeons may also opt to "switch-off" the affected side of the brain.Latanoprost (Xalatan), a prostaglandin, may significantly reduce IOP (intraocular pressure) in patients with glaucoma associated with Sturge–Weber syndrome. Latanoprost is commercially formulated as an aqueous solution in a concentration of 0.005% preserved with 0.02% benzalkonium chloride (BAC).  The recommended dosage of latanoprost is one drop daily in the evening, which permits better diurnal IOP control than does morning instillation. Its effect is independent of ethnicity, gender or age, and it has few to no side effects.  Contraindications include a history of cystic macular edema (CME), epiretinal membrane formation, vitreous loss during cataract surgery, history of macular edema associated with branch retinal vein occlusion, history of anterior uveitis, and diabetes mellitus. It is also wise to advise patients that unilateral treatment can result in heterochromia or hypertrichosis that may become cosmetically objectionable.

Prognosis
Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life.  There is a greater likelihood of intellectual impairment when seizures are resistant to treatment. Studies do not support the widely held belief that seizure frequency early in life in patients who have SWS is a prognostic indicator.

Epidemiology
It occurs in approximately 1 in 50,000 newborns.

Eponym
It is named for William Allen Sturge and Frederick Parkes Weber.

Society and culture
The Sturge-Weber Foundations (The SWF) international mission is to improve the quality of life and care for people with Sturge–Weber syndrome and associated port wine birthmark conditions.  It supports affected individuals and their families with education, advocacy, and research to promote effective management and awareness. The SWF was founded by Kirk and Karen Ball, who began searching for answers after their daughter was diagnosed with Sturge–Weber syndrome at birth. The SWF was incorporated in the US in 1987 as an International 501(c)(3) non-profit organization. In 1992, the mission was expanded to include individuals with capillary vascular birthmarks, Klippel Trenaunay (KT) and Port Wine Birthmarks.The Hemispherectomy Foundation was formed in 2008 to assist families with children who have Sturge–Weber syndrome and other conditions that require hemispherectomy </s>