<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 Situs inversus and explain in detail? [/INST] Situs inversus (also called situs transversus or oppositus) is a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions. The normal arrangement of internal organs is known as situs solitus. Although cardiac problems are more common, many people with situs inversus have no medical symptoms or complications resulting from the condition, and until the advent of modern medicine, it was usually undiagnosed.
Situs inversus is found in about 0.01% of the population, or about 1 person in 10,000. In the most common situation, situs inversus totalis, it involves complete transposition (right to left reversal) of all of the viscera. The heart is not in its usual position in the left chest, but is on the right, a condition known as dextrocardia (literally, "right-hearted"). Because the relationship between the organs is not changed, most people with situs inversus have no associated medical symptoms or complications.An uncommon form of situs inversus is isolated levocardia, in which the position of the heart is not mirrored alongside the other organs. Isolated levocardia carries a risk of heart defects, and so patients with the condition may require surgery to correct them.
In rarer cases such as situs ambiguus or heterotaxy, situs cannot be determined. In these patients, the liver may be midline, the spleen absent or multiple, and the bowel malrotated. Often, structures are duplicated or absent altogether. This is more likely to cause medical problems than situs inversus totalis.

Signs and symptoms
In the absence of congenital heart defects, individuals with situs inversus are homeostatically normal, and can live standard healthy lives, without any complications related to their medical condition. There is a 5–10% prevalence of congenital heart disease in individuals with situs inversus totalis, most commonly transposition of the great vessels. The incidence of congenital heart disease is 95% in situs inversus with levocardia.Many people with situs inversus totalis are unaware of their unusual anatomy until they seek medical attention for an unrelated condition, such as a rib fracture or a bout of appendicitis. The condition may also be discovered during the administration of certain medicines or during tests such as a barium meal or enema. The reversal of the organs may then lead to some confusion, as many signs and symptoms will be on the atypical side. For example, if an individual with situs inversus develops appendicitis, they will present to the physician with lower left abdominal pain, since that is where their appendix lies. Thus, in the event of a medical problem, the knowledge that the individual has situs inversus can expedite diagnosis. People with this rare condition should inform their doctors before an examination, so the doctor can redirect their search for heart sounds and other signs.  Wearing a medical identification tag can help inform health care providers in the event the person is unable to communicate.Situs inversus also complicates organ transplantation operations as donor organs will more likely come from situs solitus (normal) donors. As hearts and livers are chiral, geometric problems arise placing an organ into a cavity shaped in the mirror image. For example, a person with situs inversus who requires a heart transplant needs all their great vessels reattached to the donor heart. However, the orientation of these vessels in a person with situs inversus is reversed, necessitating steps so that the blood vessels join properly.

Cause
Situs inversus is generally an autosomal recessive genetic condition, although it can be X-linked or found in identical "mirror image" twins.About 25% of individuals with situs inversus have an underlying condition known as primary ciliary dyskinesia (PCD). PCD is a dysfunction of the cilia that occurs during early embryonic development. Normally functioning cilia determine the position of the internal organs during early development, and so embryos with PCD have a 50% chance of developing situs inversus. If they do, they are said to have Kartagener syndrome, characterized by the triad of situs inversus, chronic sinusitis, and bronchiectasis. Cilia are also responsible for clearing mucus from the lung, and the dysfunction causes increased susceptibility to lung infections. Kartagener syndrome can also manifest with male infertility as functional cilia are required for proper sperm flagella function.

Effect on anatomy
The condition affects all major structures within the thorax and abdomen. Generally, the organs are simply transposed through the sagittal plane. The heart is located on the right side of the thorax, the stomach and spleen on the right side of the abdomen and the liver and gall bladder on the left side. The hearts normal right atrium occurs on the left, and the left atrium is on the right. The lung anatomy is reversed and the left lung has three lobes while the right lung has two lobes. The intestines and other internal structures are also reversed from the normal, and the blood vessels, nerves, and lymphatics are also transposed.
If the heart is swapped to the right side of the thorax, it is known as "situs inversus with dextrocardia" or "situs inversus totalis". If the heart remains on the normal left side of the thorax, a much rarer condition (1 in 2,000,000 of the general population), it is known as "situs inversus with levocardia" or "situs inversus incompletus".
Situs inversus of the optic disc may occur unilaterally or bilaterally, associated with reduced binocularity and stereoacuity resembling monofixation 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 Odontogenic keratocyst and explain in detail? [/INST] An odontogenic keratocyst is a rare and benign but locally aggressive developmental cyst. It most often affects the posterior mandible and most commonly presents in the third decade of life. Odontogenic keratocysts make up around 19% of jaw cysts.In the WHO/IARC classification of head and neck pathology, this clinical entity had been known for years as the odontogenic keratocyst; it was reclassified as keratocystic odontogenic tumour (KCOT) from 2005 to 2017. In 2017 it reverted to the earlier name, as the new WHO/IARC classification reclassified OKC back into the cystic category. Under The WHO/IARC classification, Odontogenic Keratocyst underwent the reclassification as it is no longer considered a neoplasm due to a lack of quality evidence regarding this hypothesis, especially with respect to clonality. Within the Head and Neck pathology community there is still controversy surrounding the reclassification, with some pathologists still considering Odontogenic Keratocyst as a neoplasm in line with the previous classification.

Signs and symptoms
Odontogenic keratocysts can occur at any age, however they are more common in the third to sixth decades. The male to female ratio is approximately 2:1. The majority are found in the mandible, with half occurring at the angle of the mandible.

Early odontogenic keratocysts usually do not display symptoms. Typically, clinical signs and symptoms present with bony expansion, or infection. However, bony expansion is uncommon as odontogenic keratocysts grow due to increased epithelial turnover rather than osmotic pressure. When symptoms are present they usually take the form of pain, swelling and discharge due to secondary infection. Odontogenic keratocysts are usually noted as incidental radiographic findings. Radiographically they can be seen as unilocular or multilocular radiolucencies. They can be mistaken for other cysts such as residual cysts or a dentigerous cyst if they occur over an unerupted tooth.

Pathogenesis
Odontogenic keratocysts originate from the odontogenic epithelium (dental lamina) in the alveolus left from tooth development stages. They are mainly thought to arise from rests of Serres.

Genetics
Sporadic (non-syndromic) and syndromic OKCs are associated with mutations in the gene PTCH found on chromosome 9q, which is part of the Hedgehog signaling pathway. PTCH is a tumour suppressor gene. Loss of PTCH activity leads to a brake in the cell cycle. A third of OKCs show mutations in PTCH, resulting in the cyst epithelium undergoing highly proliferative activity. This leads to growth of the cyst wall and when removed favours recurrence if following incomplete removal of the epithelium.

Nevoid basal-cell carcinoma syndrome
Multiple odontogenic keratocysts are a feature, and major diagnostic criteria, of nevoid basal cell carcinoma syndrome (NBCCS, also known as Gorlin-Goltz Syndrome). Almost all individuals with NBCCS have odontogenic keratocysts which require numerous treatments. Consideration of the syndrome needs to be taken into account if found in children or if multiple OKCs are present; diagnosis of multiple OKCs in a child necessitates referral for genetic evaluation. Histologically, the cysts are indistinguishable to non-syndromic cysts and over 80% will have PTCH mutations.

Diagnosis
Diagnosis is usually radiological. However, definitive diagnosis is through biopsy. Aspirational biopsy of odontogenic keratocysts contains a greasy fluid which is pale in colour and contains keratotic squames. Protein content of cyst fluid below 4g% is diagnostic of odontogenic keratocysts. Smaller and unilocular lesions resembling other types of cysts may require a biopsy to confirm the diagnosis. On a CT scan, the radiodensity of a keratocystic odontogenic tumour is about 30 Hounsfield units, which is about the same as ameloblastomas. However, ameloblastomas show more bone expansion and seldom show high density areas.Radiographs of odontogenic keratocysts show well-defined radiolucent areas with rounded or scalloped margins which are well demarcated. These areas can be multilocular or unilocular. The growth pattern of the lesion is very characteristic from which a diagnosis can be made as there is growth and spread both forward and backward along the medullary cavity with little expansion. No resorption of teeth or inferior dental canal and minimal displacement of teeth is seen. Due to lack of expansion of the odontogenic keratocyst, the lesion can be very large when radiographically discovered.

Differential diagnosis
Radiologically

Odontogenic myxoma
Ameloblastoma
Central giant-cell granuloma
Adenomatoid odontogenic tumor
Dentigerous cyst (follicular cyst)Histologically

Orthokeratocyst
Radicular cyst (particularly if the OKC is very inflamed)
Ameloblastoma

Histology
Odontogenic keratocysts have a diagnostic histological appearance. Under the microscope, OKCs vaguely resemble keratinized squamous epithelium; however, they lack rete ridges and often have an artifactual separation from their basement membrane.The fibrous wall of the cyst is usually thin and uninflamed. The epithelial lining is thin with even thickness and parakeratinised with columnar cells in the basal layer which have focal reverse polarisation (nuclei are on the opposite pole of the cell). The basal cells are an indication of the odontogenic origin as they resemble pre-ameloblasts. The epithelium can separate from the wall, resulting in islands of epithelium. These can go on to form satellite or daughter cysts, leading to an overall multilocular cyst. Presence of daughter cysts is particularly seen in those with NBCCS. Inflamed cysts show hyperplastic epithelium which is no longer characteristic of OKCs and can have resemblance to radicular cysts instead. Due to areas of focal inflammation, a larger biopsy is required for correct diagnosis of odontogenic keratocysts.

Treatment
As the condition is quite rare, opinions among experts about how to treat OKCs differ. A 2015 Cochrane review found that there is currently no high quality evidence to suggest the effectiveness of specific treatments for the treatment of odontogenic keratocysts. Treatment depends on extent of multilocularity and cyst. Small multilocular and unilocular cysts can be treated more conservatively through enucleation and curretage. Treatment options for KTOC may vary according to its size, extent, site, and adjacent structures.
Treatment options:
Surgical enucleation: surgical removal of the entire epithelial lining of the cyst.
Marsupialisation followed by enucleation: this method is carried out by surgeons for larger cysts.
Curettage involving simple excision and scraping-out of cavity.
Carnoys solution fixative (ethanol, chloroform and acetic acid) which is usually used in conjunction with excision and curretage. Cavity wall can be treated with the fixative either before enucleation to kill the lining of the wall or added after curretage to bony walls, killing any residual epithelial cells to a depth of 1-2mm. Used with care near mandibular canal and the neurovascular bundle within.
Marsupialization which involves the surgical opening of the cyst cavity and a creation of a marsupial-like pouch. This allows the cavity to be in contact with the outside of the cyst for an extended period of time. Marsupialisation results in slow shrinkage of the cyst allowing later enucleation. However, resolution can take up to 20 months and patients are required to clean the open cavity and irrigate it.
Peripheral ostectomy after curettage and/or enucleation. Extensive cysts may require a bone graft after bone resection and reconstruction of the area.
Simple excision
Enucleation and cryotherapy. Decompression followed by enucleation has been shown to be most successful with lowest recurrence rates.
Topical application of 5FU after enucleation
Ostectomy or En – bloc resection: in addition to the above treatments, these may be required due to the issue of recurrence. Ostectomy is removal of peripheral bone. En – block resection is removal of the cyst with the surrounding tissue. Extensive cysts may require a bone graft after bone resection and reconstruction of the area.

Follow-up
Annual radiographic review has been recommended. Long-term clinical follow-up is also recommended due to recurrences occurring many years after treatment.

Recurrence and neoplastic nature
Malignant transformation to squamous cell carcinoma may occur, but is unusual.Recurrence is likely when treated by simple enucleation. Contributing causes include thin and fragile epithelium leading to incomplete removal, cyst extensions extending into cancellous bone, satellite cysts found in the wall, experience of the surgeon, formation of further new cysts from other remnants of the dental epithelium </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 Rud syndrome 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 Juvenile idiopathic arthritis and explain in detail? [/INST] Juvenile idiopathic arthritis (JIA) is the most common, chronic rheumatic disease of childhood, affecting approximately one per 1,000 children. Juvenile, in this context, refers to disease onset before 16 years of age, while idiopathic refers to a condition with no defined cause, and arthritis is inflammation within the joint.JIA is an autoimmune, noninfective, inflammatory joint disease, the cause of which remains poorly understood. It is characterised by chronic joint inflammation. JIA is a subset of childhood arthritis, but unlike other, more transient forms of childhood arthritis, JIA persists for at least six weeks, and in some children is a lifelong condition. It differs significantly from forms of arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), in terms of cause, disease associations, and prognosis.
The prognosis for children with JIA has improved dramatically over recent decades, particularly with the introduction of biological therapies and a shift towards more aggressive treatment strategies. JIA treatment aims for normal physical and psychosocial functioning, which is an achievable goal for some children with this condition.

Signs and symptoms
Arthritis means inflammation within the joint, and is usually recognised by swelling, pain, stiffness and restricted joint movement. Symptoms of JIA vary from individual to individual. This is mainly because JIA is an umbrella term for several subtypes of JIA, which differ according to the number of affected joints, severity of disease and presence or absence of inflammation in other parts of the body.The key clinical feature in JIA is persistent swelling of the affected joints. Any joint can be affected, but large joints such as the knee and ankle are most commonly involved. Involvement of small joints of the hands and feet is more likely when many joints are affected (polyarthritis). Swollen joints may also feel warmer to touch. Swelling may be difficult to detect clinically, especially for joints such as those of the spine, sacroiliac joints, shoulder, hip, and jaw; imaging techniques such as ultrasound or MRI can be very useful to identify the inflammation.Joint pain is an important symptom, although some children experience minimal or no pain with their arthritis. In these children, the first sign of arthritis may be limping, especially in the morning. Young children are often very good at changing how they move when they have joint pain: they learn to move so that it does not hurt. For example, a child will not push up using an inflamed wrist when climbing, instead putting their weight through the forearm. Morning stiffness that improves later in the day is a common feature (this implies inflammatory-type joint pain versus mechanical-type joint pain).Swelling and pain usually result in limited movement of the affected joints, for example a knee held bent causing a limp, or being unable to make a full fist. Limited movement may reduce a childs ability to fully participate in activities and undertake usual tasks such as those used for self-care. In some JIA subtypes, more non-specific symptoms of being unwell may be present, such as lethargy, fatigue and poor appetite. Children with systemic JIA usually present with fever and a classic rash and may become quite ill. Late effects of arthritis can include joint contractures (stiff, bent joints with loss of movement) due to joint damage; limb length discrepancies and muscle wasting. Children with JIA vary in the degree to which they are affected by particular symptoms.

Extra-articular
Eye disease: JIA is associated with inflammation in the front of the eye (specifically iridocyclitis, a form of chronic anterior uveitis), which affects about one in six children with JIA. Eye involvement occurs most commonly in girls, those with only a few joints involved (oligoarthritis), and those with a positive anti-nuclear antibody (ANA). It usually follows the onset of arthritis or may be detected at the same time as arthritis; occasionally it may occur before joint involvement. The factors linking eye and joint disease are not clearly understood, and the two do not necessarily follow the same course. This complication is usually asymptomatic (without symptoms) and can occur when the joints are not active. It can be detected by an experienced optometrist or ophthalmologist using a slit lamp to look for inflammatory cells in the fluid inside the eye. Most children with JIA will require referral for regular slit lamp screening examinations. Poorly controlled chronic anterior uveitis may result in permanent eye damage, including blindness.Systemic JIA: children with the Systemic JIA subtype often experience extra-articular manifestations including fever, rash, enlarged lymph nodes, enlarged liver or spleen, serositis and anaemia.

Complications
JIA is a chronic disorder, which if neglected, can lead to serious complications. However, with regular follow-up and modern treatments, complications have reduced and outcomes improved. If inflammation is not treated, it can damage the joint, the cartilage and the bone. With the advent of modern therapies, these complications of JIA have become much less common.Children with JIA may have a reduced overall rate of growth, especially if the disease involves many joints or other body systems. This may be due to a combination of the disease itself, as well as its treatments, particularly corticosteroid use. Paradoxically, limbs where a large joint (such as the knee) is inflamed may have increased growth in the short term, leading to limb-length discrepancy (i.e. one arm or leg is slightly longer than the other). This is due to increased blood supply to the bony growth plates surrounding the inflamed joints. Bone density and bone strength may be reduced through a combination of inflammation, corticosteroid use and reduced physical activity levels. Other musculoskeletal complications may include joint contractures, muscle weakness or muscle wasting.Uveitis, if left untreated, can result in scarring, glaucoma, cataracts, and even blindness. Regular monitoring allows for early detection and treatment. Steroid eye drops are usually the first line treatment for anterior uveitis. However, other treatments – many of which also treat arthritis (e.g. methotrexate, biologics) – may be required to keep the inflammation under control, and to minimise steroid use over the longer term. Long term steroid use can cause contribute to the development of cataracts.Macrophage activation syndrome (MAS) is a severe, potentially life-threatening complication that can occur in patients with the systemic subtype of JIA. MAS involves uncontrolled activation of the immune system, sometimes referred to as a cytokine storm, which can present with a sepsis-like picture of fever, rash, enlarged liver and spleen, enlarged lymph nodes and cardiorespiratory compromise. It is recognised by a series of characteristic changes in laboratory parameters, including a high ferritin and a paradoxically low erythrocyte sedimentation rate.

Causes
The cause of JIA remains unknown. However, the disorder is autoimmune — meaning that the bodys own immune system starts to attack and destroy cells and tissues (particularly in the joints) for no apparent reason. The immune system is thought to be provoked by changes in the environment, in combination with mutations in many associated genes and/or other causes of differential expression of genes. Experimental studies have shown that certain mutated viruses may be able to trigger JIA. The disease appears to be more common in girls, and is most common in Caucasians.The cause of JIA, as the word "idiopathic" suggests, is unknown and an area of active research. Current understanding of JIA suggests that it arises in a genetically susceptible individual due to environmental factors.

Diagnosis
The diagnosis of JIA can be difficult, in part because joint pain in children is so common and may be from many causes other than JIA. The characteristic feature of arthritis is joint swelling which is sometimes – but not always – associated with pain. The presence of joint stiffness is another typical feature, particularly when present in the morning and improving with activity.No single test can confirm a diagnosis of JIA: a combination of presenting signs and symptoms, blood tests, and if necessary medical imaging, is used to make the diagnosis. The blood tests may measure levels of inflammatory markers, as well as the presence of specific immune markers which may include anti-nuclear antibody, HLA-B27, rheumatoid factor and anti–citrullinated protein antibody. These serological markers may be negative in children with JIA, and are often present in healthy children; as such they should not be interpreted in isolation but in the context of the clinical presentation. Many children with JIA have normal blood work. X-rays may be required to ensure that the joint pain and swelling is not from a fracture, cancer, infection, or congenital abnormality. In some cases, fluid from the joint can be aspirated and analysed to assist in making a diagnosis. This test can assist by ruling out other causes of arthritis such as infection.

Classification
The current classification system by the International League of Associations for Rheumatology (ILAR) recognizes seven distinct subtypes of JIA, based on their presentation within the first six months:
 Each subtype has a specific pattern of features as outlined in the table and descriptions below. (The seventh category, not included in the table, is Undifferentiated and includes any patient with JIA who does not meet criteria for other subtypes, or who meets criteria for two or more subtypes).

Oligoarticular arthritis
Oligoarticular (or pauciarticular) JIA is the most common JIA subtype, and occurs when there are up to four joints involved during the first six months of disease. Two subtypes of oligoarticular arthritis exist: persistent oligoarthritis, where no more than four joints are affected throughout the whole disease course; and extended oligoarthritis, where more than four joints are affected after the first six months of disease. Patients in this subtype are often young, typically aged two to three years and with a female preponderance. The most commonly involved joint is the knee, but other affected joints may include the ankles, wrists, elbows and others. The anti-nuclear antigen (ANA) is positive in up to 80% of patients with oligoarthritis and is associated with a higher risk of associated eye disease (uveitis), particularly in younger patients. The prefixes oligo- and pauci- mean few.

Differential diagnosis
There are several other disorders and diseases that present with symptoms like JIA. These causes include, but are not limited to, infectious (for example septic arthritis or osteomyelitis) and post-infectious conditions (reactive arthritis, acute rheumatic fever, and in some geographic areas Lyme disease); hematologic and neoplastic diseases such as leukemia or bony tumors; and other connective tissue diseases (such as systemic lupus erythematosus). For the systemic-onset form of JIA, the differential diagnosis also includes Kawasaki disease and periodic fever syndromes. Some genetic skeletal dysplasias as forms of mucopolysaccharidosis especially type1 Scheie syndrome, progressive pseudorheumatoid dysplasia and multicentric osteolysis, nodulosis, and arthropathy syndrome may also mimic JIA, as they may present with joint swelling, joint restriction, stiffness, and pain. The clinical and radiologic overlap between genetic skeletal dysplasias and JIA can be great that molecular analysis may be need to confirm the diagnosis. Rarely, metabolic diseases, such as Farber disease may also mimic JIA. Patients with Farber disease typically have subcutaneous nodules and a hoarse or weak voice due to growth of nodules on the larynx.

Treatment
The major emphasis of the treatment of JIA is helping the child or young person regain normal levels of physical and social functioning by controlling inflammation and extra-articular symptoms. Clinical remission should be the primary target for all patients and treatment should be adjusted until this is achieved. Prompt recognition and management is important as early initiation of therapy increases the likelihood of a response to first-line treatments and of achieving drug-free remission later in life. While overarching consensus treatment guidelines exist, all treatments should be specifically tailored to the individuals needs in discussion with the child or young person and their family.Optimal management of JIA requires a multidisciplinary team working to address the needs of an individual patient. Optimising physical and social functioning is accomplished via a two-pronged approach: non-pharmacological strategies such as physical therapies, pain management strategies, and social supports; and the swift use of medication to control inflammation and extra-articular symptoms. Early diagnosis and treatment are imperative in helping reduce joint damage and other symptoms, which will help reduce levels of permanent damage leading to long term disability.

Non-pharmacological treatments
The optimal approach to treating a child with JIA typically involves a team of medical professionals, which may include (but is not limited to) paediatric rheumatologists, paediatric rheumatology nurses, general paediatricians, general practitioners, adult rheumatologists, physical therapists (PTs), occupational therapists (OTs), podiatrists, psychologists, social workers, pharmacists, ophthalmologists and orthopaedic surgeons. The multi-disciplinary team (MDT) work in conjunction with the child and their parents, the local health service and medical team, the childs school and teachers, community leaders and sports coaches to best support the child and their family.Together, the team help children to participate as fully and independently as possible in their daily activities by maximising quality of life, maximising function and minimising disruption to the life of the child or young person.
The multidisciplinary team work together to provide the child and their family with support and education about JIA, strategies to promote age-appropriate self-sufficiency and help the child to adapt and adjust to any challenges they face. There are many ways to make daily tasks easier or more manageable. One of the key ways the multidisciplinary team helps children with JIA is to involve them, and their families, in the decision-making process regarding their treatment and rehabilitation.
In young children with JIA, symptoms may result in either delay or regression in developmental milestones such as walking, running or climbing. Upper limb function may also be affected. Members of the multidisciplinary team can perform developmental assessments to identify deficits and guide treatments. The information gathered can be shared with schools and child care facilities.
One of the key ways occupational or physical therapists help young children with JIA is by developing a home therapy program based around play. Exercises are prescribed by both physical therapists and occupational therapists to increase the range a child can move a joint, to strengthen the muscles around a joint, to decrease pain and stiffness and to prevent further limitations in their joint movements. OTs and PTs can provide children with age-appropriate games and activities to allow the children to practice their exercises while playing and socializing with friends. Examples are crafts, swimming, and sports.Children with JIA may experience challenges with low mood, social interaction, reduced self-confidence and negative self-image. Psychologists, OTs, nurses, social workers and other team members can work with the child and their family to develop strategies to help with these issues. Many JIA support organisations run camps and activities for children with JIA and their families.
Surgery is only used to treat the most severe cases of JIA and is now rarely required.

Physical therapy and exercise
Maintaining physical activity is important in all children, but especially for children with JIA. The physical therapist has a role in guiding physical rehabilitation (muscle stretching and strengthening, enhancing joint range of movement, improving balance, etc.); optimising physical functioning; goal-setting; and improving a childs confidence in their own body. They usually work with the child and family to develop a home exercise program which changes over time as the child makes progress.
Arthritis in childhood can be associated with muscle weakness and wasting around the affected joints. It can also lead to low bone density, which may predispose to osteoporosis and fractures in adulthood. Getting regular exercise is an important part of the management of JIA to promote bone and muscle health.There is variation in the exact exercise prescription which best promotes musculoskeletal health whilst reducing fatigue, pain and swelling. Consensus is that children with JIA should be following national public health standards of physical activity and participating in moderate fitness, flexibility, and strengthening exercises, compatible with their abilities and disease restrictions.It is important that – across the week – the exercise is a combination of moderate to vigorous cardiovascular activity (e.g. walking to school, scooting, bike-riding, playing tag, dancing, doing physical education, sports such as basketball or football) and strengthening exercises. Bone strengthening activities build up muscles; by having the muscles push and pull against the bone, the bones themselves get stronger. This can include things like playing on climbing equipment, swinging on monkey-bars, using weights, carrying groceries, skipping or running.
A Cochrane meta-analysis looking at existing RCTs showed in all studies that exercise does not have a detrimental effect on JIA. In fact, there is evidence to show that both low and high-intensity exercise programs result in improved physical function and reduced pain in children with JIA. Guidelines indicate that children with JIA should be encouraged to be physically active and can safely participate in sports without disease exacerbation. Those with actively inflamed joints should limit activities within pain limits, then gradually return to full activity following a disease flare.It may be necessary to use aids like splints or casts to correct biomechanics, but prolonged splinting and casting are now rarely indicated for children with JIA. Following joint injections, children are often advised to take it easy, often undertaking one to two days of low activity, although advice around this varies. When a joint (usually a knee) loses range of motion due to prolonged inflammation and pain, a series of plaster casts may be used to gradually extend shortened muscles and restore range. These serial casts are usually applied over days to weeks. Active strengthening and lengthening is used in conjunction with serial casting for optimal results.
Some children may benefit from foot orthotics to support and correct body position and function. Orthotics maintain biomechanical alignment and may reduce discomfort in the legs and back when children participate in physical activities such as sports.

Self-management
Pain is the most common and often the most distressing symptom of JIA (although some children with JIA do have joint inflammation without any pain at all). Pain can occur even when children are receiving effective doses of therapies which are managing their underlying disease.
Pain has been found to negatively impact all aspects of quality of life and is associated with a reduction in physical, social and emotional functioning. Children who have higher levels of pain tend to have reduced levels of socialization, school attendance and participation in activities. Increased pain is also correlated with poor sleep and higher fatigue in children with JIA.
The causation of pain in JIA is multifactorial. There are disease-related factors, which relate to the inflammatory process, and anatomical or biomechanical changes that are associated with joint swelling and joint disease. There are psychological factors around dealing with stress, coping with a chronic illness and managing anxiety or depression which can influence the perception of pain and the degree of functional impairment. There are also social factors, which relate to family and peer relationships, parental distress and social and financial supports.
Given the waxing and waning nature of JIA, childrens physical abilities, pain and mood can change during periods of flare or remission. Coping with chronic illness during childhood and adolescence is associated with significant stress that can put children at risk for emotional or behavioural distress and can interfere with compliance and adherence to treatment regimes. Managing JIA can be a challenge and it is important to have a toolbox of skills, supports and strategies to draw upon to manage the ups and downs of having a chronic illness.
There are many things that can help children with JIA to grow up to have full and active lives. Having good sleep habits and routines gives a child the best chance of having a refreshing nights sleep and preventing daytime fatigue. This in turn affects concentration, energy levels, memory and mood. Most children need between eight and twelve hours of sleep to feel refreshed, depending on age. Simple strategies like maintaining regular bedtimes, limiting screen time to two hours before bed, having a sleep ritual, avoiding napping during the day, avoiding sugary and caffeinated drinks, having a healthy well-balanced diet, regular exercise and using relaxation techniques can assist in having good nights sleep.
Relaxation techniques can also help to reduce stress, physical tension and be a useful pain management technique. There are a variety of mindfulness strategies which include things like deep breathing, guided-imagery or progressive muscle relaxation. All techniques need to be practiced over time, and it may be necessary to try different combinations to find the method that works best for each individual. These techniques are readily available online, in books, recordings, apps or by seeing a trained professional such as a psychologist.

Education and employment
Most children with JIA will be able to consistently attend school, without too many disruptions, even during a disease flare. However, they may require extra help or adaptations in order to do so. Maximising school attendance involves collaboration between the family, the school and the health care team. Prolonged or repeated school absences can have academic, social and emotional implications; except in rare circumstances they are rarely necessary (other than absences for medical or therapy appointments).
These adaptations may include requiring extra time to get between classes or during examinations, using specialised pens or switching to typing rather than handwriting, or minimising the load of heavy books or equipment to be carried in a childs school bag. The exact requirements will vary from child-to-child and will depend on the joints affected. In many instances, the childs treating team will be able to provide specific advice and information for teachers and coaches to smooth the transition back to school. This may take the form of an individualized plan outlining any extra measures that need to be taken at school, what to do in the case of unexpected events or medication administration during school hours. Importantly, JIA can be disruptive not just to the academic aspects of school. It is equally important to optimise school attendance so that the child can maintain friendships and keep up with opportunities to socialize with peers.
As adolescents progress through high school, they may need to factor their current medical status and functional abilities into decisions around their future education and employment plans. Most children with JIA will not be restricted in their study goals or professional aspirations. Students with JIA can usually apply for special arrangements during assessment periods, such as additional time to allow for rest/stretch periods and use of adaptive equipment in some situations. These applications often need to be supported by the treating medical team. The treating team can assist adolescents in finding ways to tell their employers about their condition in a positive way. OTs and social workers can also help teenagers understand their rights as an employee with a chronic illness. It is important that adolescents with JIA understand how to take care of themselves and manage their disease when working full-time or attending higher education. The team will also support those patients who still require medical input through the transition process from paediatric to adult services.

eHealth and mobile Health (mHealth) interventions
A new emerging area of support for disease management is through digital technology using eHealth and mobile health (mHealth) interventions. These interventions have to potential to support the development of self-management skills, or assist the healthcare team to monitor symptoms. For JIA, current studies have focused on the health issues pain, health related quality of life, physical activity and disease management. Children and adolescents have used these interventions through a range of devices including computers, laptops, personal digital assistants, multimedia-players, and wearable accelerometers synchronised to smart phone. This allows access to these interventions from home. Early usability studies have been gaining positive feedback by children and adolescents. They are familiar with this type of technology and report liking these interventions. However further research is still needed to understand their full potential in supporting children and adolescents living with complex needs.

Prognosis
At the time of receiving a JIA diagnosis, children and their families often have many questions regarding prognosis. Recent therapeutic advances in the management of JIA have made inactive disease and clinical remission achievable goals for the majority of children with access to modern treatments. Clinical remission can be defined as the absence of signs and symptoms of inflammatory disease activity, including extra-articular manifestations of the disease. Differentiating subtypes of JIA helps to target treatment and leads to more positive outcomes, however subtype is not the only predictor of JIA outcome. Poor prognostic factors include arthritis of the hip, cervical spine, ankles or wrists; prolonged elevation of inflammatory markers; and radiographic evidence of joint damage including erosions or joint space narrowing. Patients with RF-positive polyarthritis often have worse outcomes associated with more aggressive disease. Despite this, the probability of this subgroup achieving inactive disease at least once within five years was shown to be 90% in a large Canadian study. Research is currently being undertaken into clinical prediction models to allow earlier identification of children who are likely to have a worse prognosis </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 Pinealoma 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 Vaginal disease and explain in detail? [/INST] A vaginal disease is a pathological condition that affects part or all of the vagina.

Types
Sexually transmitted infections
Sexually transmitted disease that affect the vagina include:

Herpes genitalis. The herpes simplex virus (HSV) can infect the vulva, vagina, and cervix, and this may result in small, painful, recurring blisters and ulcers. It is also common for there to be an absence of any noticeable symptoms.
Gonorrhea
Chlamydia
Trichomoniasis
Human papillomavirus (HPV), which may cause genital warts.Because of STIs, health authorities and other health outlets recommend safe sex practices when engaging in sexual activity.

Other infectious diseases
Candidal vulvovaginitis
Bacterial vaginosis (BV) associated with the Gardnerella, formerly called "nonspecific vaginitis"

Vaginismus
Vaginismus, which is not the same thing as vaginitis (an inflammation of the vagina), is an involuntary tightening of the vagina due to a conditioned reflex of the muscles in the area during vaginal penetration. It can affect any form of vaginal penetration, including sexual intercourse, insertion of tampons and menstrual cups, and the penetration involved in gynecological examinations. Various psychological and physical treatments are possible to help alleviate it.

Obstruction
A vaginal obstruction is often caused by an imperforate hymen or, less commonly, a transverse vaginal septum. A sign of vaginal obstruction is hydrocolpos, that is, accumulation of watery fluid within the vagina. It may extend to become hydrometrocolpos, that is, accumulation of watery fluid within the vagina as well as within the uterus.

Hypoplasia
Vaginal hypoplasia is the underdevelopment or incomplete development of the vagina. Vaginal hypoplasia can vary in severity from being smaller than normal to being completely absent. The absence of a vagina is a result of vaginal agenesis. Diagnostically, it may look similar to a vaginal obstruction. It is frequently associated with Mayer-Rokitansky-Küstner-Hauser (MRKH) syndrome, in which the most common result is an absent uterus in conjunction with a deformed or missing vagina, despite the presence of normal ovaries and normal external genitalia. It is also associated with cervical agenesis, in which the uterus is present but the uterine cervix is absent.

Lumps
The presence of unusual lumps in the wall or base of the vagina is always abnormal. The most common of these is Bartholins cyst. The cyst, which can feel like a pea, is formed by a blockage in glands which normally supply the opening of the vagina. This condition is easily treated with minor surgery or silver nitrate. Other less common causes of small lumps or vesicles are herpes simplex. They are usually multiple and very painful with a clear fluid leaving a crust. They may be associated with generalized swelling and are very tender. Lumps associated with cancer of the vaginal wall are very rare and the average age of onset is seventy years. The most common form is squamous cell carcinoma, then cancer of the glands or adenocarcinoma and finally, and even more rarely, vaginal melanoma.

Persistent genital arousal disorder
Persistent genital arousal disorder (PGAD), which results in a spontaneous, persistent, and uncontrollable genital arousal, with or without orgasm, unrelated to any feelings of sexual desire. Because PGAD is relatively rare and, as its own concept apart from clitoral priapism (a rare, potentially painful medical condition in which, for an unusually extended period of time, the erect clitoris does not return to its relaxed state), has only been researched since 2001, there is little research into what may cure or remedy the disorder. In some recorded cases, PGAD was caused by, or caused, a pelvic arterial-venous malformation with arterial branches to the clitoris; surgical treatment was effective in these cases.

Other
Vulvodynia
Vaginal prolapse may result in the case of weakened pelvic muscles, which is a common result of childbirth; in the case of this prolapse, the rectum, uterus, or bladder pushes on the vagina, and severe cases result in the vagina protruding out of the body. Kegel exercises have been used to strengthen the pelvic floor, and may help prevent or remedy vaginal prolapse.
Cervical cancer (may be prevented by Pap smear screening and HPV vaccines)
Vaginal cancer is very rare, but its symptoms include abnormal vaginal bleeding or vaginal discharge.
Air embolism is a potentially fatal condition where an air bubble travels throughout the bloodstream and can obstruct a vessel. It can result if air is blown into a pregnant womans vagina during cunnilingus; this is because pregnant women have an increased vascularity of the vagina and uterus, and an air embolism can force air into the uterine veins.

Symptoms
Discharge
Most vaginal discharges occur due to normal bodily functions, such as menstruation or sexual arousal (vaginal lubrication). Abnormal discharges, however, can indicate disease. Normal vaginal discharges include blood or menses (from the uterus), the most common, and clear fluid either as a result of sexual arousal or secretions from the cervix. Other non-infective causes include dermatitis. Non-sexually transmitted discharges occur from bacterial vaginosis, aerobic vaginitis and thrush or candidiasis </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 Stickler syndrome and explain in detail? [/INST] Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of rare genetic disorders affecting connective tissue, specifically collagen. Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome is characterized by distinctive facial abnormalities, ocular problems, hearing loss, and joint and skeletal problems. It was first studied and characterized by Gunnar B. Stickler in 1965.

Signs and symptoms
Individuals with Stickler syndrome experience a range of signs and symptoms. Some people have no signs and symptoms; others have some or all of the features described below. In addition, each feature of this syndrome may vary from subtle to severe.A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This is caused by underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. A particular group of physical features, called the Pierre Robin sequence, is common in children with Stickler syndrome. Robin sequence includes a U-shaped or sometimes V-shaped cleft palate (an opening in the roof of the mouth) with a tongue that is too large for the space formed by the small lower jaw. Children with a cleft palate are also prone to ear infections and occasionally  swallowing difficulties.Many people with Stickler syndrome are very nearsighted (described as having high myopia) because of the shape of the eye. People with eye involvement are prone to increased pressure within the eye (ocular hypertension) which could lead to glaucoma and tearing or detachment of the light-sensitive retina of the eye (retinal detachment). Cataract may also present as an ocular complication associated with Sticklers Syndrome. The jelly-like substance within the eye (the vitreous humour) has a distinctive appearance in the types of Stickler syndrome associated with the COL2A1 and COL11A1 genes. As a result, regular appointments to a specialist ophthalmologist are advised. The type of Stickler syndrome associated with the COL11A2 gene does not affect the eye.People with this syndrome have problems that affect things other than the eyes and ears. Arthritis, abnormality to ends of long bones, vertebrae abnormality, curvature of the spine, scoliosis, joint pain, and double jointedness are all problems that can occur in the bones and joints. Physical characteristics of people with Stickler can include flat cheeks, flat nasal bridge, small upper jaw, pronounced upper lip groove, small lower jaw, and palate abnormalities, these tend to lessen with age and normal growth and palate abnormalities can be  treated with routine surgery. Another characteristic of this syndrome is a mild spondyloepiphyseal dysplasia which can cause reduced height.Another sign of Stickler syndrome is mild to severe hearing loss that, for some people, may be progressive (see hearing loss with craniofacial syndromes). The joints of affected children and young adults may be very flexible (hypermobile). Arthritis often appears at an early age and worsens as a person gets older. Learning difficulties not due to a deficit in intelligence can also occur because of hearing and sight impairments if the school is not informed and the student is not assisted within the learning environment.Stickler syndrome is thought to be associated with an increased incidence of mitral valve prolapse of the heart, although no definitive research supports this.

Causes
The syndrome is thought to arise from a mutation of several collagen genes during fetal development. It is a sex independent autosomal dominant trait meaning a person with the syndrome has a 50% chance of passing it on to each child. There are three  variants of Stickler syndrome identified, each associated with a collagen biosynthesis gene </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 Brachydactyly type D and explain in detail? [/INST] Brachydactyly type D, also known as short thumb or stub thumb and inaccurately referred to as clubbed thumb, is a condition clinically recognised by a thumb being relatively short and round with an accompanying wider nail bed. The distal phalanx of affected thumbs is approximately two-thirds the length of full-length thumbs. It is the most common type of brachydactyly, or shortness of digits, affecting approximately 2–3% of the population, and is associated with the HOXD13 gene, located on chromosome 2q31.1

Physiology
Brachydactyly type D is a skeletal condition which exhibits a partial fusion or premature closing of the epiphysis with the distal phalanx of the thumb, according to Goodman et alia (1965). J.K. Breithenbecher (1923) found that distal phalanges of stub thumbs were one-half the length of full-length thumbs, while R.M. Stecher (1957) claimed that it is approximately two-thirds </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 Ganglioneuroblastoma 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 Dacryoadenitis 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 Hereditary progressive mucinous histiocytosis 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 Fechtner syndrome 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 Breast hematoma and explain in detail? [/INST] Breast hematoma  is a collection of blood within the breast. It arises from internal bleeding (hemorrhage) and may arise due to trauma (breast injury or surgery) or due to a non-traumatic cause.

Symptoms
Symptoms may include visible discoloring (ecchymosis), breast pain, and swelling.
The symptoms may be similar to those of fibrocystic breast changes.

Causes
A breast hematoma may appear due to direct trauma to the breast, for example from a sports injury or a road accident, for example a vehicle collision in which a seat belt injury occurs.
Hematoma can also be a consequence of breast surgery, usually due to post-operative bleeding. Bleeding may occur shortly after the intervention or a number of days later and can occur for cosmetic surgery (for example breast reduction or breast enhancement) and for non-cosmetic surgery (for example lymph node removal, lumpectomy, or mastectomy). More rarely, hematoma can result from breast biopsy.
Rarely, a breast hematoma can also occur spontaneously due to a rupture of blood vessels in the breast, especially in persons with coagulopathy or after long-term use of blood-thinning drugs such as aspirin or ibuprofen.

Pathophysiology
Small breast hematomas often resolve on their own within several days or weeks by means of reabsorption of the blood </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 elliptocytosis and explain in detail? [/INST] Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the persons red blood cells are elliptical rather than the typical biconcave disc shape. Such morphologically distinctive erythrocytes are sometimes referred to as elliptocytes or ovalocytes. It is one of many red-cell membrane defects. In its severe forms, this disorder predisposes to haemolytic anaemia. Although pathological in humans, elliptocytosis is normal in camelids.

Presentation
Pathophysiology
Common hereditary elliptocytosis
A number of genes have been linked to common hereditary elliptocytosis (many involve the same gene as forms of Hereditary spherocytosis, or HS):

These mutations have a common end result; they destabilise the cytoskeletal scaffold of cells. This stability is especially important in erythrocytes as they are constantly under the influence of deforming shear forces. As disc-shaped erythrocytes pass through capillaries, which can be 2-3 micrometres wide, they are forced to assume an elliptical shape in order to fit through. Normally, this deformation lasts only as long as a cell is present in a capillary, but in hereditary elliptocytosis the instability of the cytoskeleton means that erythrocytes deformed by passing through a capillary are forever rendered elliptical. These elliptical cells are taken up by the spleen and removed from circulation when they are younger than they would normally be, meaning that the erythrocytes of people with hereditary elliptocytosis have a shorter than average life-span (a normal persons erythrocytes average 120 days or more).
EL2 and EL3: The most common genetic defects (present in two-thirds of all cases of hereditary elliptocytosis) are in genes for the polypeptides α-spectrin or β-spectrin. These two polypeptides combine with one another in vivo to form an αβ heterodimer. These αβ heterodimers then combine to form spectrin tetramers.  These spectrin tetramers are among the basic structural subunits of the cytoskeleton of all cells in the body. Although there is much interindividual variability, it is generally true that α-spectrin mutations result in an inability of α-spectrin to interact properly with β-spectrin to form a heterodimer. In contrast, it is generally true that β-spectrin mutations lead to αβ heterodimers being incapable of combining to form spectrin tetramers. In both cases the end result is a weakness in the cytoskeleton of the cell. Individuals with a single mutation in one of the spectrin genes are usually asymptomatic, but those who are homozygotes or are compound heterozygotes (i.e. they are heterozygous for two different elliptocytosis-causing mutations) have sufficient cell membrane instability to have a clinically significant haemolytic anaemia.
EL1: Less common than spectrin mutations are band 4.1 mutations. Spectrin tetramers must bind to actin in order to create a proper cytoskeleton scaffold, and band 4.1 is an important protein involved in the stabilisation of the link between spectrin and actin. Similarly to the spectrin mutations, band 4.1 mutations cause a mild haemolytic anaemia in the heterozygous state, and a severe haemolytic disease in the homozygous state.
EL4: Southeast Asian ovalocytosis is associated with the Band 3 protein.
Another group of mutations that lead to elliptocytosis are those that cause glycophorin C deficiencies. There are three phenotypes caused by abnormal glycophorin C, these are named Gerbich, Yus and Leach (see glycophorin C for more information). Only the rarest of the three, the Leach phenotype, causes elliptocytosis. Glycophorin C has the function of holding band 4.1 to the cell membrane. It is thought that elliptocytosis in glycophorin C deficiency is actually the consequence of a band 4.1 deficit, as glycophorin C deficient individuals also have reduced intracellular band 4.1 (probably due to the reduced number of binding sites for band 4.1 in the absence of glycoprotein C).Inheritance of multiple mutations tends to infer more serious disease. For instance, the most common genotype responsible for HPP occurs when the affected individual inherits an α-spectrin mutation from one parent (i.e. one parent has hereditary elliptocytosis) and the other parent passes on an as-yet-undefined defect that causes the affected individuals cells to preferentially produce the defective α-spectrin rather than normal α-spectrin.

Diagnosis
The diagnosis of hereditary elliptocytosis is usually made by coupling a family history of the condition with an appropriate clinical presentation and confirmation on a blood smear. In general it requires that at least 25% of erythrocytes in the specimen are abnormally elliptical in shape, though the observed percentage of elliptocytes can be 100%. This is in contrast to the rest of the population, in which it is common for up to 15% of erythrocytes to be elliptical.If some doubt remains regarding the diagnosis, definitive diagnosis can involve osmotic fragility testing, an autohaemolysis test, and direct protein assaying by gel electrophoresis.

Treatment
The vast majority of those with hereditary elliptocytosis require no treatment whatsoever. They have a mildly increased risk of developing gallstones, which is treated surgically with a cholecystectomy if pain becomes problematic. This risk is relative to the severity of the disease.Folate helps to reduce the extent of haemolysis in those with significant haemolysis due to hereditary elliptocytosis.Because the spleen breaks down old and worn-out blood cells, those individuals with more severe forms of hereditary elliptocytosis can have splenomegaly. Symptoms of splenomegaly can include:
Vague, poorly localised abdominal pain
Fatigue and dyspnoea
Growth failure
Leg ulcers
Gallstones.Removal of the spleen (splenectomy) is effective in reducing the severity of these complications, but is associated with an increased risk of overwhelming bacterial septicaemia, and is only performed on those with significant complications </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 Sneddons syndrome and explain in detail? [/INST] Sneddons syndrome is a form of arteriopathy characterized by several symptoms, including:

Severe, transient neurological symptoms or stroke
Livedo reticularis, or livedo racemosa

Signs and symptoms
Sneddons syndrome generally manifests with stroke or severe, transient neurological symptoms, and a skin rash (livedo reticularis). Livedo reticularis appears as a bluish-purple, netlike mottling of the skin.  Sneddons syndrome may instead present with livedo racemosa, which involves larger, less organized patches of bluish-purple mottling of the skin. Both are generally found first in the extremities, both worsen in cold and either may occur without Sneddons Syndrome or any other systemic disease.Sneddons Syndrome can be characterized by: transient amnesia, transient aphasia, palsy, headaches, hypertension, transient ischemic attacks (TIA), stroke, coronary disease and dementia. The skin manifestations may precede the neurologic symptoms by years.

Pathogenesis
Sneddons syndrome is a progressive, noninflammatory arteriopathy leading to the characteristic skin condition and to cerebrovascular problems, including stroke, transient ischemic attack (TIA), severe but transient neurological symptoms thought to be caused by cerebral vasospasm, coronary disease and early-onset dementia. Progressive compromise of arterial linings in Sneddons produces clotting, for which high-dose warfarin is most commonly prescribed, and can also cause the development of systemic arterial plaque when cholesterol levels are normal.

Diagnosis
There are no diagnostic tests on which all Sneddons patients will have abnormal results, although brain MRI and skin biopsy are often abnormal. The diagnosis is based on a detailed history and physical examination.  About 40-60% of patients with the syndrome test positive for antiphospholipid antibodies.

Treatment
Sneddons patients are generally treated with warfarin, maintaining a high INR of 3–4. Because most will experience significant relief of symptoms after several months of consistent INR in this range, treatment with warfarin is often used as a diagnostic tool.

Epidemiology
Sneddons syndrome is a rare condition that is usually misdiagnosed </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 Cerebellopontine angle syndrome and explain in detail? [/INST] The cerebellopontine angle syndrome is a distinct neurological syndrome of deficits that can arise due to the closeness of the cerebellopontine angle to specific cranial nerves. Indications include unilateral hearing loss (85%), speech impediments, disequilibrium, tremors or other loss of motor control. The cerebellopontine angle cistern is a subarachnoid cistern formed by the cerebellopontine angle that lies between the cerebellum and the pons. It is filled with cerebrospinal fluid and is a common site for the growth of acoustic neuromas or schwannomas.

Signs and Symptoms
Tumors within the nerve canaliculi initially present with unilateral sensorineural hearing loss, unilateral tinnitus, or disequilibrium (vertigo is rare, on account of the slow growth of neuromas). Speech discrimination out of proportion to hearing loss, difficulty talking on the telephone are frequent accompaniments.  Tumors extending into the CPA will likely present with disequilibrium or ataxia depending on the amount of extension on the brainstem. With brainstem extension, midfacial and corneal hypesthesia, hydrocephalus, and other cranial neuropathies become more prevalent.
For example, involvement of CN V from a cerebellopontine mass lesion often results in loss of the ipsilateral (same side of the body) corneal reflex (involuntary blink).
Patients with larger tumours can develop Bruns nystagmus (dancing eyes) due to compression of the flocculi.

Causes
In most cases, the cause of acoustic neuromas is unknown.  The only statistically significant risk factor for developing an acoustic neuroma is having a rare genetic condition called neurofibromatosis type 2 (NF2).  There are no confirmed environmental risk factors for acoustic neuroma. There are conflicting studies on the association between acoustic neuromas and cellular phone use and repeated exposure to loud noise. In 2011, an arm of the World Health Organization released a statement listing cell phone use as a low grade cancer risk. The Acoustic Neuroma Association recommends that cell phone users use a hands-free device.
Meningiomas are significantly more common in women than in men; they are most common in middle-aged women.  Two predisposing factors associated with meningiomas for which at least some evidence exists are exposure to ionizing radiation (cancer treatment of brain tumors) and hormone replacement therapy.

Pathophysiology
Various kinds of tumors, usually primary and benign, are represented in the pathology. Lesions in the area of cerebellopontine angle cause signs and symptoms secondary to compression of nearby cranial nerves, including cranial nerve V (trigeminal), cranial nerve VII (facial), and cranial nerve VIII (vestibulocochlear). The most common cerebellopontine angle (CPA) tumor is a vestibular schwannoma affecting cranial nerve VIII (80%), followed by meningioma (10%). The cranial nerves affected are (from most common to least common) : VIII (cochlear component), VIII (vestibular component), V

Acoustic neuroma/vestibular schwannoma
Meningioma, a tumor of the meninges or membranes that surround the nerves passing through the CPA
Cerebellar astrocytoma, a malignant tumor of star-shaped glial cells called astrocytes in the cerebellum
Intracranial epidermoid cyst
Lipoma
Glomus jugulare associated with the glossopharyngeal nerve
Idiopathic hypertrophic pachymeningitis
IgG4-related hypertrophic pachymeningitis
CPA Metastases in cancer patients with inner ear symptoms (rare)

Diagnosis
Radiography
Subsequent to diagnosis of sensorineural hearing loss, and differential diagnosis of retrocochlear or neural etiologies,
radiological assessment of the CPA is performed to assess the presence of anatomical retrocochlear lesions.

Traditional protocols
Before the advent of MRI, electronystagmography and Computed Tomography were employed for diagnosis of acoustic neuroma.

Auditory brainstem response audiometry and adjunct tests
The auditory brainstem response (ABR) test gives information about the inner ear (cochlea) and nerve pathways for hearing via ongoing electrical activity in the brain measured by electrodes placed on the scalp. Five different waves (I to V) are measured for each ear.  Each waveform represents specific anatomical points along the auditory neural pathway.  Delays of one side relative to the other suggest a lesion in cranial nerve VIII between the ear and brainstem or in the brainstem itself. The most reliable indicator for acoustic neuromas from the ABR is the interaural latency differences in wave V: the latency in the impaired ear is prolonged. Different studies have indicated the sensitivity of ABR for detection of acoustic neuromas 1cm or larger to be between 90 and 95%. Sensitivity for neuromas smaller than 1cm are 63-77% </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 Protruding ear and explain in detail? [/INST] Prominent ear, otapostasis or bat ear is an abnormally protruding human ear </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 Palisaded encapsulated neuroma 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 Esthiomene 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 March fracture and explain in detail? [/INST] March fracture, is the fracture of the distal third of one of the metatarsals occurring because of recurrent stress.  It is more common in soldiers, but also occurs in hikers, organists, and people whose duties entail much standing (such as hospital doctors).  March fractures most commonly occur in the second and third metatarsal bones of the foot. It is a common cause of foot pain, especially when people suddenly increase their activities.

Signs and symptoms
The onset is not dramatic.  When the boot or shoes are taken off, there is a cramp-like pain in the affected forefoot, and moderate local edema appears on the dorsal aspect.  On moving each toe in turn, that of the involved metatarsal causes pain, and when the bone is palpated from the dorsal surface, a point of tenderness is found directly over the lesion. Radiography at this stage is negative, but the condition is diagnosed correctly by military surgeons without the aid of x-rays </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 Koilonychia 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 Lobomycosis and explain in detail? [/INST] Lobomycosis is a fungal infection of the skin. It usually presents with bumps in the skin, firm swellings, deep skin lesions, or malignant tumors.It is caused by Lacazia loboi (formerly named Loboa loboi). Transmission is generally by direct contact with contaminated water, soil, vegetation, or by direct contact with an infected dolphin.Diagnosis is by identifying Lacazia laboi in a lesion.This disease is usually found in humans and bottlenose dolphins, with the possible risk of transmission from one species to the other.It was discovered by Brazilian dermatologist Jorge Lobo. Other names which were given to the disease are: keloidal blastomycosis, Amazonian blastomycosis, blastomycoid granuloma, miraip and piraip. These last two names were given by natives of the Amazon and mean that which burns.

Signs and symptoms
The disease is endemic in rural regions in South America and Central America.Infection most commonly develops after minor scratches or insect bites, but many patients cannot recall any skin trauma.  Human-to-human transmission does not occur, and the disease is only acquired from the environment.  The disease manifests as chronic keloidal nodular lesions on the ears, legs, or arms.

Diagnosis of Lobos disease is made by taking a sample of the infected skin (a skin biopsy) and examining it under the microscope. Lacazia loboi is characterized by long chains of spherical cells interconnected by tubules. The cells appear to be yeast-like with a diameter of 5 to 12 μm.  Attempts to culture L. loboi have so far been unsuccessful.

Diagnosis
Differential diagnosis
The disease is often misdiagnosed as Blastomyces dermatitidis or Paracoccidiodes brasiliensis due to its similar morphology.

Treatment
Surgical excision or cryosurgery is the treatment of choice. Treatment with antifungals has been considered ineffective, but the use of clofazimine and dapsone in patients with leprosy and lobomycosis has been found to improve the latter. This treatment regimen, with concomitant itraconazole, has been used to prevent recurrence after surgery.

Other animals
Lesions in dolphins occur on the dorsal fin, head, flukes, and peduncle.  In January 2006, a potential epidemic of lobomycosis was reported in dolphins of the Indian River Lagoon in Florida.

See also
List of cutaneous conditions

References
Further reading
Bermudez, L., M.F. van Bressem, O. Reyes-Jaimes, A.J. Sayegh & A.E. Paniz Mondolfi (2009) Lobomycosis in man and lobomycosis-like disease in bottlenose dolphin, Venezuela. Emerg. Infect. Dis., 15: 1301–1303.
Carvalho, K. A. D., Floriano, M. C., Enokihara, M. M. S., & Mascarenhas, M. R. M. (2015). Jorge Lobo’s disease. Anais brasileiros de dermatologia, 90(4), 586–588.
Esperon, F., D. Garcia-Parraga, E.N. Belliere & J.M. Sanchez-Vizcaino (2012) Molecular diagnosis of lobomycosis-like disease in a bottlenose dolphin in captivity. Med. Mycol., 50: 106–109.
Francesconi, V. A., Klein, A. P., Santos, A. P. B. G., Ramasawmy, R., & Francesconi, F (2014) Lobomycosis: epidemiology, clinical presentation, and management options. Therapeutics and Clinical Risk Management, 10, 851.
Rodríguez-Toro G (May 1993). "Lobomycosis". Int. J. Dermatol. (Review). 32 (5): 324–32. doi:10.1111/j.1365-4362.1993.tb01466.x. PMID 8505156. S2CID 221814305.
Paniz-Mondolfi, A., C. Talhari, L.S. Hoffmann, D.L. Connor and S. Talhari & al. (2012) Lobomycosis: An emerging disease in humans and delphinidae. Mycoses, 55: 298-309 | résumé.
Reif, J.S., A.M. Schaefer & G.D. Bossart (2013) Lobomycosis: Risk of zoonotic transmission from dolphins to humans </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 Proliferating angioendotheliomatosis 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 Plateau iris and explain in detail? [/INST] Plateau iris is a less common medical condition of the eye resulting from anterior displacement of the peripheral iris by the ciliary body causing angle closure glaucoma. First line treatment for all causes of narrow angle glaucoma is laser iridotomy. If narrow angle glaucoma persists after iridotomy then it is called plateau iris syndrome and subsequently managed either medically (miotics) or surgically (laser peripheral iridoplasty). Plateau iris is a less common form of narrow angle glaucoma and is sometimes discovered after an iridotomy causes a rapid increase in eye pressure. Since this condition is not common, most ophthalmologists are unfamiliar with, and have little experience with, the anatomy of and treatments for this condition.

References
Further reading
Wand, M; Grant, WM; Simmons, RJ; Hutchinson, BT (January 1977). "Plateau iris syndrome". Transactions. Section on Ophthalmology. American Academy of Ophthalmology and Otolaryngology. 83 (1): 122–130. PMID 898466. NAID 10029605696.
Pavlin, Charles J.; Ritch, Robert; Foster, F. Stuart (April 1992). "Ultrasound Biomicroscopy in Plateau Iris Syndrome". American Journal of Ophthalmology. 113 (4): 390–395. doi:10.1016/s0002-9394(14)76160-4. PMID 1558112.
Ritch, Robert (April 1992). "Plateau Iris Is Caused by Abnormally Positioned Ciliary Processes". Journal of Glaucoma. 1 (1): 23–26. doi:10.1097/00061198-199204000-00006. S2CID 72047734.
Diniz Filho, Alberto; Cronemberger, Sebastião; Mérula, Rafael Vidal; Calixto, Nassim (October 2008). "Plateau iris". Arquivos Brasileiros de Oftalmologia. 71 (5): 752–758. doi:10.1590/S0004-27492008000500029. PMID 19039479.
Ritch, Robert; Tham, Clement C.Y; Lam, Dennis S.C (January 2004). "Long-term success of argon laser peripheral iridoplasty in the management of plateau iris syndrome". Ophthalmology. 111 (1): 104–108. doi:10.1016/j.ophtha.2003.05.001. PMID 14711720.
Kumar, Rajesh S.; Baskaran, Mani; Chew, Paul T.K.; Friedman, David S.; Handa, Swati; Lavanya, Raghavan; Sakata, Lisandro M.; Wong, Hon-Tym; Aung, Tin (March 2008). "Prevalence of Plateau Iris in Primary Angle Closure Suspects". Ophthalmology. 115 (3): 430–434. doi:10.1016/j.ophtha.2007.07.026. PMID 17900691.
Kumar, Rajesh S.; Tantisevi, Visanee; Wong, Melissa H.; Laohapojanart, Kobkuea; Chansanti, Orathai; Quek, Desmond T.; Koh, Victor T.; MohanRam, Lakshmana S.; Lee, Kelvin Y.; Rojanapongpun, Prin; Aung, Tin (12 October 2009). "Plateau Iris in Asian Subjects With Primary Angle Closure Glaucoma". Archives of Ophthalmology. 127 (10): 1269–1272. doi:10.1001/archophthalmol.2009.241. PMID 19822841.
Viet Tran, H; Liebmann, Jeffrey M; Ritch, Robert (January 2003) </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 Proctocolitis 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 Cheyletiella and explain in detail? [/INST] Cheyletiella is a genus of mites that live on the skin surface of dogs, cats, and rabbits.The adult mites are about 0.385 millimeters long, have eight legs with combs instead of claws, and have palpi that end in prominent hooks.  They do not burrow into the skin, but live in the keratin level.  Their entire 21-day life cycle is on one host.  They cannot survive off the host for more than 10 days.

Cheyletiellosis
Cheyletiellosis (also known as Cheyletiella dermatitis)," is a mild dermatitis caused by mites of the genus Cheyletiella.  It is also known as walking dandruff due to skin scales being carried by the mites.
Cheyletiellosis is seen more commonly in areas where fleas are less prevalent, because of the decreased use of flea products that are also efficacious for the treatment of this mite.Cheyletiellosis is highly contagious.  Transmission is by direct contact with an affected animal.

Presentation
Symptoms in animals vary from no signs to intense itching, scales on the skin, and hair loss.  The lesions are usually on the back of the animal </s>