<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 Sparganosis and explain in detail? [/INST] Sparganosis is a parasitic infection caused by the plerocercoid larvae of the genus Spirometra including S. mansoni, S. ranarum, S. mansonoides and S. erinacei. It was first described by Patrick Manson from China in 1882, and the first human case was reported by Charles Wardell Stiles from Florida in 1908. The infection is transmitted by ingestion of contaminated water, ingestion of a second intermediate host such as a frog or snake, or contact between a second intermediate host and an open wound or mucous membrane. Humans are the accidental hosts in the life cycle, while dogs, cats, and other mammals are definitive hosts. Copepods (freshwater crustaceans) are the first intermediate hosts, and various amphibians and reptiles are second intermediate hosts.Once a human becomes infected, the plerocercoid larvae migrate to a subcutaneous location, where they typically develop into a painful nodule. Migration to the brain results in cerebral sparganosis, while migration to the eyes results in ocular sparganosis. Sparganosis is most prevalent in Eastern Asia, although cases have been described in countries throughout the world. In total, approximately 300 cases have been described in the literature up to 2003. Diagnosis is typically not made until the sparganum larva has been surgically removed. Praziquantel is the drug of choice, although its efficacy is unknown and surgical removal of the sparganum is generally the best treatment. Public health interventions should focus on water and dietary sanitation, as well as education about the disease in rural areas and discouragement of the use of poultices.

Symptoms
Clinical presentation of sparganosis most often occurs after the larvae have migrated to a subcutaneous location. The destination of the larvae is often a tissue or muscle in the chest, abdominal wall, extremities, or scrotum, although other sites include the eyes, brain, urinary tract, pleura, pericardium, and spinal canal. The early stages of disease in humans are often asymptomatic, but the spargana typically cause a painful inflammatory reaction in the tissues surrounding the subcutaneous site as they grow. Discrete subcutaneous nodules develop that may appear and disappear over a period of time. The nodules usually itch, swell, turn red, and migrate, and are often accompanied by painful edema. Seizures, hemiparesis, and headaches are also common symptoms of sparganosis, especially cerebral sparganosis, and eosinophilia is a common sign.  Clinical symptoms also vary according to the location of the sparganum; possible symptoms include elephantiasis from location in the lymph channels, peritonitis from location in the intestinal perforation, and brain abscesses from location in the brain. In genital sparganosis, subcutaneous nodules are present in the groin, labia, or scrotum and may appear tumor-like.Ocular sparganosis a particularly well-described type of sparganosis. Early signs of the ocular form include eye pain, epiphora (excessive watering of the eye), and/or ptosis (drooping of the upper eyelid). Other signs include periorbital edema and/or edematous swelling that resembles Romanas sign in Chagas disease, lacrimation,  orbital cellulitis, exophthalmos (protrusion of the eyeball), and/or an exposed cornea ulcer. The most common sign at presentation is a mass lesion in the eye. If untreated, ocular sparganosis can lead to blindness.In one case of brain infestation by Spirometra erinaceieuropaei, a man sought treatment for headaches, seizures, memory flashbacks and strange smells. Magnetic resonance imaging (MRI) scans showed a cluster of rings, initially in the right medial temporal lobe, but moving over time to the other side of the brain. The cause was not determined for four years; ultimately a biopsy was performed and a 1 cm-long tapeworm was found and removed. The patient continued to have symptoms.

Transmission
The parasite is transmitted to humans in three different ways. First, humans may acquire the infection by drinking water that is contaminated with copepods housing Spirometra larvae.  Second, humans may acquire the infection by consuming the raw flesh of one of the second intermediate hosts, such as frogs or snakes.  For example, humans consume raw snakes or tadpoles for medicinal purposes in some Asian cultures; if the snakes or tadpoles are infected, the larvae may be transmitted to humans. Third, humans may acquire the infection by placing raw poultices of the second intermediate hosts on open wounds, lesions, or the eyes for medicinal or ritualistic reasons. If the poultice is infected with plerocercoid larvae, the human may become infected. According to Zunt et al., human infection most often occurs following ingestion of infected raw snake, frog, or pig, although contact with infected flesh of an intermediate host can also cause infection.  The high prevalence in Korea may be explained by the ingestion of dog meat. In the Western hemisphere, the most common cause of infection is drinking contaminated water.

Hosts, reservoirs, and vectors
Definitive hosts of Spirometra include dogs, cats, birds, and wild carnivores, while humans are accidental hosts. First intermediate hosts include copepods and other fresh-water crustaceans, while second intermediate hosts include birds, reptiles, and amphibians. The intermediate hosts are also the reservoirs of Spirometra. There are no vectors of Spirometra.

Incubation period
The incubation period of Spirometra is 20 days to 3 years.

Morphology
The sparganum larvae are white, wrinkled, and ribbon-shaped. They range from a few millimeters in length to several centimeters. The anterior end can invaginate and bears suggestions of the sucking grooves that are present in the scolex of the mature worm.  The absence of a scolex or protoscolex in Spirometra is a key difference in differentiating between Taenia solium and Spirometra.  The worms body is also characterized by a stromal network of smooth muscle.  In general, plerocercoids in the East (S. mansoni) are described as larger and more delicate than those in the West.The eggs of S. mansonoides provide an example of the general morphological characteristics of Spirometra eggs. S. mansonoides eggs resemble the eggs of D. latum, with some specific differences. S. mansonoides eggs measure 57-66 µm by 33-37 µm, which is smaller than the eggs of D. latum. The eggs of S. mansonoides are also ellipsoidal and have a conical, prominent operculum.

Life cycle
The adult Spirometra live in the small intestine of the definitive host—a dog, cat, raccoon, or other mammal—for up to 9 years, where they produce many eggs.  When the host defecates, the unembryonated eggs leave the body in the feces and hatch when they reach fresh water. The eggs are eaten by copepods (crustaceans of the genus Cyclops), which are the first intermediate hosts. In the copepods, the eggs develop into procercoid larvae that live in the body cavity. The second intermediate hosts include fish, reptiles, or amphibians that consume the copepods. The larvae penetrate the intestinal tract of the second intermediate host, where they become plerocercoid larvae and proliferate to the subcutaneous tissues and muscles. The second intermediate host is eventually eaten by a definitive host predator, such as a dog, and the cycle begins again. Humans are accidental hosts in the cycle, becoming infected with the plerocercoid larvae by contact with or ingestion of the first or second intermediate hosts. The larvae migrate to the subcutaneous tissues in humans; however, no development takes place and the human is not capable of transmitting the disease. In S. proliferum, many larvae, rather than just a few, proliferate throughout the subcutaneous tissues of humans.

Diagnosis
Sparganosis is typically diagnosed following surgical removal of the worms, although the infection may also be diagnosed by identification of eosinophilia or identification of the parasite in a tissue specimen. If such biopsy and excision procedures are not feasible, the antisparganum ELISA test may be used. In theory, a pre-operative diagnosis could be made by identification of exposure history and a painful, migratory, subcutaneous nodule. Sparganosis usually presents as a single nodule, while other cestode infections such as cysticercosis typically present as multiple nodules. Preoperative diagnosis, however, is rare.CT and MRI scans are especially useful for diagnosis of cerebral sparganosis, as they reveal lesions in the brain. Through a retrospective analysis of 25 cases of cerebral sparganosis from 2000 to 2006, Song et al. found a number of characteristic signs that could be used in the future to diagnose cerebral sparganosis without performing an excision or tissue biopsy. The most characteristic finding was the "tunnel sign" on MRI images, showing the migrating track of the worm, while the most common finding was multiple conglomerated ring-shaped enhancements, seen as bead-shaped, usually with 3 to 6 rings. These findings led Song et al. to suggest that clinical history, ELISA, and either MRI or CT scans could be sufficient to make a sparganosis diagnosis. These lesions, however, are sometimes mistaken for tuberculosis lesions. In one case cerebral sparganosis was not diagnosed for four years, during which scans showed a cluster of rings moving from the right to the left side of the brain; ultimately the worm was found on biopsy.

Prevention
Because sparganosis is a rare infection, public health strategies have not made its prevention a priority. Public health strategies focusing on providing basic access to clean water may help to reduce future sparganosis infections. In their retrospective study of 25 cases of cerebral sparganosis, Song et al. found that 12 patients (48%) had eaten raw or uncooked frog or snake that was infected with sparganum, 5 patients (20%) had applied an animals flesh as a poultice to an open wound, 4 patients had drunk contaminated water, and the cause of infection was not known for 4 patients. As a result of these findings, Song et al. conclude that health education about sparganosis and the importance of food sanitation should be implemented in all rural endemic areas. It has been recommended that water consumed in endemic areas should be boiled or treated to prevent ingestion of Cyclops or Spirometra larvae </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 Indigestion and explain in detail? [/INST] Indigestion, also known as dyspepsia or upset stomach, is a condition of impaired digestion. Symptoms may include upper abdominal fullness, heartburn, nausea, belching, or upper abdominal pain. People may also experience feeling full earlier than expected when eating. Indigestion is relatively common, affecting 20% of people at some point during their life, and is frequently caused by gastroesophageal reflux disease (GERD) or gastritis.Indigestion is subcategorized as "organic" or "functional", but making the diagnosis can prove challenging for physicians. Organic indigestion is the result of an underlying disease, such as gastritis, peptic ulcer disease (an ulcer of the stomach or duodenum), or cancer. Functional indigestion (previously called nonulcer dyspepsia) is indigestion without evidence of underlying disease. Functional indigestion is estimated to affect about 15% of the general population in western countries and accounts for a majority of dyspepsia cases.In elderly patients (60 years of age or older) or with worrisome symptoms such as trouble swallowing, weight loss, or blood loss, an endoscopy (a procedure whereby a camera attached to a flexible tube is inserted down the throat and into the stomach) is recommended to further assess and find a potential cause. In patients younger than 60 years of age, testing for the bacteria H. pylori and if positive, treatment of the infection is recommended. More details about how indigestion is diagnosed and treated can be found below.

Signs and symptoms
Symptoms
Patients experiencing indigestion likely report one, a combination of, or all of the following symptoms:
upper abdominal pain or discomfort
bloating
early satiety
postprandial fullness
nausea with or without vomiting
anorexia
regurgitation
belching

Signs
There may be abdominal tenderness, but this finding is nonspecific and is not required to make a diagnosis. However, there are physical exam signs that may point to a different diagnosis and underlying cause for a patients reported discomfort. A positive Carnett sign (focal tenderness that increases with abdominal wall contraction and palpation) suggests an etiology involving the abdominal wall musculature. Cutaneous dermatomal distribution of pain may suggest a thoracic polyradiculopathy. Tenderness to palpation over the right upper quadrant, or Murphys sign, may suggest cholecystitis or gallbladder inflammation.

Alarm symptoms
Also known as Alarm features, alert features, red flags, or warning signs in gastrointestinal (GI) literature.
Alarm features are thought to be associated with serious gastroenterologic disease and include:
chronic gastrointestinal bleeding
progressive unintentional weight loss
progressive difficulty swallowing (dysphagia)
persistent vomiting
Iron deficiency anemia
Vitamin B12 deficiency (Pernicious anemia)
epigastric mass

Cause
Indigestion is a diagnosis related to a combination of symptoms that can be attributed to "organic" or "functional" causes. Organic dyspepsia should have pathological findings upon endoscopy, like an ulcer in the stomach lining in peptic ulcer disease. Functional dyspepsia is unlikely to be detected on endoscopy but can be broken down into two subtypes, epigastric pain syndrome (EPS) and post-prandial distress syndrome (PDS). In addition, indigestion could be caused by medications, food, or other disease processes.
Psychosomatic and cognitive factors are important in the evaluation of people with chronic dyspepsia. Studies have shown a high occurrence of mental disorders, notably anxiety and depression, amongst patients with dyspepsia; however, there is little evidence to prove causation.

Organic Dyspepsia
Esophagitis
Esophagitis is an inflammation of the esophagus, most commonly caused by gastroesophageal reflux disease (GERD). It is defined by the sensation of "heartburn" or a burning sensation in the chest as a result of inappropriate relaxation of the lower esophageal sphincter at the site where the esophagus connects to the stomach. It is often treated with proton pump inhibitors. If left untreated, the chronic damage to the esophageal tissues poses a risk of developing cancer. A meta-analysis showed risk factors for developing GERD included age equal to or greater than 50, smoking, the use of non-steroid anti-inflammatory medications, and obesity.

Gastritis
Common causes of gastritis include peptic ulcer disease, infection, or medications.

Peptic Ulcer Disease
Gastric and/or duodenal ulcers are the defining feature of peptic ulcer disease (PUD). PUD is most commonly caused by an infection with H. pylori or NSAID use.

Helicobacter pylori (H.pylori) infection
The role of H. pylori in functional dyspepsia is controversial, and treatment for H. pylori may not lead to complete improvement of a patients dyspepsia. However, a recent systemic review and meta-analysis of 29 studies published in 2022 suggests that successful treatment of H. pylori modestly improves indigestion symptoms.

Pancreatobiliary Disease
These include cholelithiasis, chronic pancreatitis, and pancreatic cancer.

Duodenal micro-inflammation
Duodenal micro-inflammation caused by an altered duodenal gut microbiota, reactions to foods (mainly gluten proteins) or infections may induce dyspepsia symptoms in a subset of people.

Functional Dyspepsia
Functional dyspepsia is a common cause of chronic heartburn. More than 70% of people have no obvious organic cause for their symptoms after evaluation.  Symptoms may arise from a complex interaction of increased visceral afferent sensitivity, gastric delayed emptying (gastroparesis) or impaired accommodation to food. Diagnostic criteria for functional dyspepsia categorize it into two subtypes by symptom: epigastric pain syndrome and post-prandial distress syndrome. Anxiety is also associated with functional dyspepsia. In some people, it appears before the onset of gut symptoms; in other cases, anxiety develops after onset of the disorder, which suggests that a gut-driven brain disorder may be a possible cause.  Although benign, these symptoms may be chronic and difficult to treat.

Epigastric Pain Syndrome (EPS)
Defined by stomach pain and/or burning that interferes with daily life, without any evidence of organic disease.

Post-Prandial Distress Syndrome (PDS)
Defined by post-prandial fullness or early satiation that interferes with daily life, without any evidence of organic disease.

Food, herb, or drug intolerance
Acute, self-limited dyspepsia may be caused by overeating, eating too quickly, eating high-fat foods, eating during stressful situations, or drinking too much alcohol or coffee. Many medications cause dyspepsia, including aspirin, nonsteroidal anti-inflammatory drugs (NSAIDs), antibiotics (metronidazole, macrolides), bronchodilators (theophylline), diabetes drugs (acarbose, metformin, Alpha-glucosidase inhibitor, amylin analogs, GLP-1 receptor antagonists), antihypertensive medications (angiotensin converting enzyme [ACE] inhibitors, Angiotensin II receptor antagonist), cholesterol-lowering agents (niacin, fibrates), neuropsychiatric medications (cholinesterase inhibitors [donepezil, rivastigmine]), SSRIs (fluoxetine, sertraline), serotonin-norepinephrine-reuptake inhibitors (venlafaxine, duloxetine), Parkinson drugs (Dopamine agonist, monoamine oxidase [MAO]-B inhibitors), weight-loss medications (orlistat), corticosteroids, estrogens, digoxin, iron, and opioids. Common herbs have also been show to cause indigestion, like white willow berry, garlic, ginkgo, chaste tree berry, saw palmetto, and feverfew. Studies have shown that wheat and dietary fats can contribute to indigestion and suggest foods high in short-chain carbohydrates (FODMAP) may be associated with dyspepsia. This suggests reducing or consuming a gluten-free, low-fat, and/or FODMAP diet may improve symptoms. Additionally, some people may experience dyspepsia when eating certain spices or spicy food as well as foods like peppers, chocolate, citrus, and fish.

Systemic Diseases
There are a number of systemic diseases that may involve dyspepsia, including coronary disease, congestive heart failure, diabetes mellitus, hyperparathyroidism, thyroid disease, and chronic kidney disease.

Post-infectious Causes of Dyspepsia
Gastroenteritis increases the risk of developing chronic dyspepsia. Post-infectious dyspepsia is the term given when dyspepsia occurs after an acute gastroenteritis infection. It is believed that the underlying causes of post-infectious IBS and post-infectious dyspepsia may be similar and represent different aspects of the same pathophysiology.

Pathophysiology
The pathophysiology for indigestion is not well understood; however, there are many theories. For example, there are studies that suggest a gut-brain interaction, as patients who received an antibiotic saw a reduction in their indigestion symptoms. Other theories propose issues with gut motility, a hypersensitivity of gut viscera, and imbalance of the microbiome. A genetic predisposition is plausible, but there is limited evidence to support this theory.

Diagnosis
A diagnosis for indigestion is based on symptoms, with a possible need for more diagnostic tests. In younger patients (less than 60 years of age) without red flags (e.g., weight loss), it is recommended to test for H. pylori noninvasively, followed by treatment with antibiotics in those who test positively. A negative test warrants discussing additional treatments, like proton pump inhibitors, with your doctor. An upper GI endoscopy may also be recommended. In older patients (60 or older), an endoscopy is often the next step in finding out the cause of newly onset indigestion regardless of the presence of alarm symptoms. However, for all patients regardless of age, an official diagnosis requires symptoms to have started at least 6 months ago with a frequency of at least once a week over the last 3 months.

Treatment
Functional and organic dyspepsia have similar treatments. Traditional therapies used for this diagnosis include lifestyle modification (e.g., diet), antacids, proton-pump inhibitors (PPIs), H2-receptor antagonists (H2-RAs), prokinetic agents, and antiflatulents. PPIs and H2-RAs are often first-line therapies for treating dyspepsia, having shown to be better than placebo medications. Anti-depressants, notably tricyclic antidepressants, have also been shown to be effective treatments for patients who do not respond to traditional therapies.

Diet
A lifestyle change that may help with indigestion is a change in diet, such as a stable and consistent eating schedule and slowing the pace of eating. Additionally, there are studies that support a reduction in the consumption of fats may also alleviate dyspepsia. While some studies suggest a correlation between dyspepsia and celiac disease, not everyone with indigestion needs to refrain from gluten in their diet. However, a gluten-free diet can relieve the symptoms in some patients without celiac disease. Lastly, a FODMAPs diet or diet low/free from certain complex sugars and sugar alcohols has also been shown to be potentially beneficial in patients with indigestion.

Acid suppression
Proton pump inhibitors (PPIs) were found to be better than placebo in a literature review, especially when looking at long-term symptom reduction </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 Sydenhams chorea and explain in detail? [/INST] Sydenhams chorea, also known as chorea minor and historically and occasionally referred to as St Vitus dance, is a disorder characterized by rapid, uncoordinated jerking movements primarily affecting the face, hands and feet. Sydenhams chorea is an autoimmune disease that results from childhood infection with Group A beta-haemolytic Streptococcus.  It is reported to occur in 20–30% of people with acute rheumatic fever and is one of the major criteria for it, although it sometimes occurs in isolation. The disease occurs typically a few weeks, but up to 6 months, after the acute infection, which may have been a simple sore throat (pharyngitis).
Sydenhams chorea is more common in females than males and most cases affect children between the ages of 5 and 15 years of age. Adult onset of Sydenhams chorea is comparatively rare, and the majority of the adult cases are recurrences following childhood Sydenhams chorea.

Signs and symptoms
Sydenhams chorea is characterized by the abrupt onset (sometimes within a few hours) of neurologic symptoms, classically chorea, which are non-rhythmic, writhing or explosive involuntary movements.  Usually all four limbs are affected, but there are cases reported where just one side of the body is affected (hemichorea). Typical chorea includes repeated wrist hyperextension, grimacing, lip pouting. The fingers can move as if playing the piano. There may be tongue fasciculations ("bag of worms") and motor impersistence for example the "milk maid sign" (grip strength fluctuates, as if hand milking), or inability to sustain tongue protrusion or eye closure.  There is usually loss of fine motor control, particularly obvious in handwriting if the child is of school age.  Speech is often affected (dysarthria), as is walking; legs will suddenly give way or flick out to one side, giving an irregular gait and the appearance of skipping or dancing. Underlying the abnormal movements is often low tone (hypotonia) which may not become obvious until treatment is started to suppress the chorea.  In severe cases, the loss of tone and weakness predominate (chorea paralyticum).
The severity of the condition can vary from just some instability on walking and difficulty with hand writing, to the extreme of being wholly unable to walk, talk, or eat.
Movements cease during sleep. The eye muscles are not affected, curiously.It is a neuropsychiatric disorder, so besides the motor problems there is classically emotional lability (mood swings, or inappropriate mood), anxiety, attention deficit.  These can precede the motor symptoms.Non-neurologic manifestations of acute rheumatic fever may be present, namely carditis (up to 70% of cases, often subclinical, so echocardiography required), arthritis, erythema marginatum, and subcutaneous nodules.

Differentiating these signs from other involuntary movements such as tics and stereotypies can be difficult, and since these things are not uncommon they can potentially co-exist.  Diagnosis is often delayed and attributed to another condition such as tic disorder or conversion disorder.  The controversial PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections) hypothesis has overlapping clinical features but Sydenhams chorea is one of the exclusion criteria.  PANDAS can present with chorea but more typically there are tics, stereotypies with a psychological component (e.g., OCD).

Differential diagnosis
Other disorders that may be accompanied by chorea include benign hereditary chorea, bilateral striatal necrosis, abetalipoproteinemia, ataxia–telangiectasia, biotin-thiamine-responsive basal ganglia disease, Fahr disease, familial dyskinesia–facial myokymia (Bird–Raskind syndrome) due to an ADCY5 gene mutation, glutaric aciduria, Lesch–Nyhan syndrome, mitochondrial disorders, Huntingtons disease, Wilson disease, hyperthyroidism, lupus erythematosus, pregnancy (chorea gravidarum), drug intoxication and side effects of certain anticonvulsants (e.g. phenytoin) or psychotropic agents. Although some of these can similarly present in an acute way, there will typically be other neurological signs (such as ataxia or cognitive impairment), or other disease manifestations, or positive family history, which will help distinguish between them.

Pathology
One of the important manifestations of acute rheumatic fever, Sydenhams chorea is similarly caused by an autoimmune response following infection by group A β-hemolytic streptococci.Two cross reactive streptococcal antigens have been identified, the M protein and N-acetyl-beta-D-glucosamine, whereby infection leads to autoantibodies being produced against host tissues (molecular mimicry) causing a variety of streptococcal related diseases including Sydenhams chorea but also rheumatic heart disease and nephritic syndrome. Autoantibodies against basal ganglia proteins have been found in Sydenhams chorea but these are non-specific. Dopamine receptor autoantibodies have been reported to correlate with clinical symptoms. Whether these antibodies represent an epi-phenomenon or are pathogenic, remains to be proven.

Epidemiology
As with rheumatic fever, Sydenhams chorea is seen more often in less affluent communities, whether in the developing world or in aboriginal communities in the global North.  High rates of impetigo are a marker for widespread streptococcal transmission.

Diagnosis
Chorea is distinctive, if the health care provider is familiar with it.  The diagnosis is then made by the typical acute onset in the weeks following a sore throat or other minor infection, plus evidence of inflammation (raised CRP and/or ESR) and evidence of recent streptococcal infection.
To confirm recent streptococcal infection:

Throat culture
Anti-DNAse B titre (peaks at 8–12 weeks after infection)
Anti-streptolysin O titre (peaks at 3–5 weeks)None of these tests are 100% reliable, particularly when the infection was some months previously.
Further testing is directed more towards alternative diagnoses and other manifestations of rheumatic fever:

Echocardiography
EEG
Lumbar puncture
Magnetic resonance imaging or computed tomography scan of the brain (alterations in caudate nucleus and putaminal enlargement have been described in some patients)

Management
Management of Sydenhams chorea is based on the following principles:

Eliminate the streptococcus – it may not be of any use for the index patient but further spread of that specific clone will be prevented.
Treat the movement disorder
Immunosuppression
Prevention of relapses and further cardiac damage
Manage the disabilityThere is a UFMG rating scale for Sydenhams chorea, from Brazilian Universidade Federal de Minas Gerais (UFMG), for research purposes, but it only looks at motor function not psychiatric/behavioural symptoms.
Occupational therapy and physiotherapy is useful for maintaining function and muscle tone.
Treatment with sodium valproate is effective for controlling symptoms, but it doesn’t speed up recovery. Haloperidol was used previously, but caused serious side effects e.g. tardive dyskinesia. Case reports exist to support carbamazepine and levetiracetam; other drugs tried include pimozide, clonidine, and phenobarbitone.

Immunosuppression
Immunosuppression is used inconsistently in Sydenhams chorea.  The model of an autoimmune disorder would support its use.  One randomized controlled trial of steroids from Paz, Brazil in 2006 (22 cases) showed remission reduced to 54 days from 119 days. Various other reports of use of oral or IV steroids from Israel, Italy and Brazil .  Immunoglobulin has been used in Holland and South Africa. Some improvement can be seen within a few days of IV steroids. In Italy, prednisolone reduced average duration of symptoms from 9 weeks to 4 weeks, and these were severe cases. South African group found less neuropsychiatric complications at 6 months with IVIG treatment (IVIG preferred due to fear of TB reactivation).A course of penicillin is usually given at diagnosis to definitively clear any remaining streptococci, but there is no evidence that this is an effective treatment. Active infection is usually cleared by diagnosis. Penicillin prophylaxis, on the other hand, is essential to treat cardiac features of rheumatic fever, even if subclinical (American Heart Association guideline). If the case is of isolated chorea, it is arguable whether cardiac risk justifies prophylaxis or not, however it is likely to reduce recurrence.
There are several historical case series reporting successful treatment of Sydenhams chorea by inducing fever.

Prognosis
Motor problems including chorea settle within an average of 2–3 months.
Recurrence seen in 16–40% of cases. Recurrence is more likely with poor compliance with penicillin prophylaxis. Intramuscular penicillin is given every 2–3 weeks superior to 4 weekly regime, and oral penicillin is also prescribed.  Recurrences are sometimes associated with rise in ASO titre or other evidence of new streptococcal infection. There is no obvious clinical parameter that might predict those at risk of recurrence. More likely if failure to remit in initial 6 months, can recur with pregnancy (chorea gravidorum).
Higher recurrence rates seen in longest follow up – can recur up to 10 years after the initial episode, so might be underestimated by series with shorter follow up.
Recurrence is usually only chorea, even if the original case was associated with rheumatic fever. There are two total reports of heart disease worsening after recurrence of chorea. The Thailand study also had 2 cases where carditis, which had improved after initial diagnosis, came back again. Some suggest that recurrent chorea is a different disease altogether.10% reported long term tremor in one study (10 years follow up). Long term neuropsychiatric difficulties are increasingly recognized (49 studies so far, especially obsessive-compulsive disorder but also attention-deficit hyperactivity disorder, affective disorders, tic disorders, executive function disturbances, psychotic features, and language impairment).Heart involvement improves in about a third of cases (whether silent or not).[PMID 22734303]

Family support
Sydenhams Chorea Association

History
The incidence of acute rheumatic fever and rheumatic heart disease is not declining. Recent figures quote the incidence of Acute Rheumatic Fever as 0.6–0.7/1,000 population in the United States and Japan compared with 15–21/1,000 population in Asia and Africa </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 Alacrima 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 Dyskinetic cerebral palsy and explain in detail? [/INST] Dyskinetic cerebral palsy (DCP) is a subtype of cerebral palsy (CP) and is characterized by impaired muscle tone regulation, coordination and movement control. Dystonia and choreoathetosis are the two most dominant movement disorders in patients with DCP.

Presentation
In dyskinetic cerebral palsy, both motor and non-motor impairments are present. Motor impairments, such as impaired muscle tone regulations, lack of muscle control and bone deformations are often more severe compared to the other subtypes of CP. Non-motor impairments increase with motor severity. Half of the DCP group shows severe learning disabilities, 51% has epilepsy. Hearing and visual impairments occur frequently, respectively 11% and 45%. Dysarthria or anarthria are also common, so alternative and augmentative communication tools are needed.

Dystonia and choreoathetosis
Dystonia and choreoathetosis mostly occur concurrently in DCP, but they are two independent motor disorders with their own characteristics. Dystonia predominates in most patients.
Dystonia (DYS) is defined by twisting and repetitive movements, abnormal postures due to sustained muscle contractions, and hypertonia. Dystonia is aggravated by voluntary movements and postures, or with stress, emotion or pain. A video of dystonia in a patient with dyskinetic cerebral palsy can be seen here: Dyskinetic cerebral palsy: dystonia on YouTubeChoreoathetosis (CA) is characterized by hyperkinesia (chorea i.e. rapid involuntary, jerky, often fragmented movements) and hypokinesia (athetosis i.e. slower, constantly changing, writhing or contorting movements). A video of choreoathetosis in a patient with dyskinetic cerebral palsy can be seen here: Dyskinetic cerebral palsy: choreoathetosis on YouTube

Clinical patterns
Patients with DCP are more likely to obtain a high level of functional disability. Respectively 12,7% and 49% of the patients were assigned in level IV and V of the Gross Motor Function Classification System (GMFCS). The same trend appeared in manual ability with 21,8% in level IV and 43,6% in level V of the Manual Ability Classification System (MACS). A good correlation between the functional classification scales and the total dystonia level was found, meaning that a higher level of functional disability correlates with a higher dystonia level. The same study showed no associations with choreoathetosis. These results suggest that dystonia typically has a bigger impact on functionality and a larger effect on activity, participation and quality of life than choreoathetosis.As previously mentioned, dystonia predominates in most patients, partly because dystonia is often more noticeable and severe than choreoathetosis. Both increase with activity and are generalized over all body regions with a higher severity in the upper limbs than in the lower limbs. Dystonia has a significantly higher level of severity in the distal parts of the extremities, whereas choreoathetosis is more equally distributed.

Causes
Dyskinetic cerebral palsy could have multiple causes. The majority of the children are born at term and experience perinatal adverse events which can be supported by neuroimaging. Possible causes are perinatal hypoxic-ischaemia and neonatal shock in children born at term or near term. Hyperbilirubinaemia used to be a common contributing factor, but is now rare in high-income countries due to preventive actions. Other aetiological factors are growth retardation, brain maldevelopment, intracranial haemorrhage, stroke or cerebral infections.

Diagnosis
Multiple classification systems using Magnetic Resonance Imaging (MRI) have been developed, linking brain lesions to time of birth, cerebral palsy subtype and functional ability. The overall goal of these studies is to elucidate etiology, timing of injury and pathogenesis of cerebral palsy.Around 70% of patients with DCP show lesions in the cortical and deep grey matter of the brain, more specifically in the basal ganglia and thalamus. However, other brain lesions and even normal-appearing MRI findings can occur, for example white matter lesions and brain maldevelopments. Patients with pure basal ganglia and thalamus lesions are more likely to show more severe choreoathetosis whereas dystonia may be associated with other brain lesions, such as the cerebellum. These lesions occur mostly during the peri- and postnatal period since these regions have a high vulnerability during the late third trimester of the pregnancy. Unfortunately, contemporary imaging is not sophisticated enough to detect all subtle brain deformities and network disorders in dystonia. Research with more refined imaging techniques including diffusion tensor imaging and functional MRI is required.

Prevention
Prevention strategies have been developed for the different risk factors of the specific cerebral palsy subtypes. Primary prevention consists of reducing the possible risk factors. However, when multiple risk factors cluster together, prevention is much more difficult. Secondary preventions may be more appropriate at that time, e.g. prevention of prematurity. Studies showed a reduced risk of cerebral palsy when administering magnesium sulfate to women at risk of preterm delivery.Cooling or therapeutic hypothermia for 72 hours immediately after birth has a significant clinical effect on reducing mortality and severity of neurodevelopmental disabilities in neonates with birth asphyxia. This has been documented for newborns with hypoxic-ischemic encephalopathy.

Management
Measurement
Measuring dystonia and choreoathetosis can be very challenging. It is however crucial to have reliable measurements for the evaluation and effects of targeted management. So far, measurements involved the usage of clinical qualitative assessment scales judged by video observation. The Barry-Albright Dystonia Rating Scale (BADS), the Burke-Fahn-Marsden Dystonia Rating Scale (BFMS) and the Dyskinesia Impairment Scale (DIS) are most commonly used.The BADS was developed and validated to assess secondary dystonia in patients with CP. The BFMS has been validated for use in primary dystonia and is clinically the most used scale in both primary and secondary dystonia. Both the BADS and BFMS do not include scoring for choreoathetosis. The DIS is currently stated as the most sensitive, valid and reliable scale. It has been validated for use in secondary dystonia, as it occurs in patients with DCP. The value lays in its detailed full-body consideration and the differentiation action-rest, proximal-distal limb and duration-amplitude. Moreover, the DIS includes both the evaluation of dystonia and choreoathetosis. Although this scale is currently seen as the gold standard to evaluate patients with DCP in research, substantial time and experience with the current CA and DYS definitions is needed from the rater in scoring dystonia and choreoathetosis.Both the DIS and BFMS can be used as outcome measure in intervention studies such as deep brain stimulation (DBS) or intrathecal baclofen.

Aim of treatment interventions
Dyskinetic cerebral palsy is a non-progressive, non-reversible disease. The current management is symptomatic, since there is no cure. The main goal is to improve daily activity, quality of life and autonomy of the children by creating a timed and targeted management.
The many management options for patients with DCP are not appropriate as standalone treatment but must be seen within an individualized multidisciplinary rehabilitation program.

Medical and rehabilitation interventions
Management options can be subdivided into medical treatment and rehabilitation interventions.
Medical treatment consists of oral medication and surgery. Before using oral drugs, it is important to differentiate between spasticity, dystonia and choreoathetosis since each motor disorder has a specific approach. In general, many oral drugs have low efficacy, unwanted side-effects and variable effects. Oral baclofen and trihexyphenidyl are commonly used to decrease dystonia, although its efficacy is relatively low in most patients. Adverse effects of the latter can include worsening of choreoathetosis. Since dystonia predominates over choreoathetosis in most patients, reducing dystonia allows the possibility of a full expression of choreoathetosis. This suggests that the discrimination of dystonia and choreoathetosis is crucial, since misinterpretations in diagnosing can contribute to the administration of inappropriate medication, causing unwanted effects. Intrathecal baclofen pump (ITB) is often used as an alternative to reduce side-effects of the oral dystonic medication over the whole body and botulinum toxin injections are applied to decrease dystonia in specific muscles or muscle groups </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 Mitochondrial myopathy 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 Cornelia de Lange syndrome and explain in detail? [/INST] Cornelia de Lange syndrome (CdLS) is a genetic disorder. People with this syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. The syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges. The typical features of CdLS include thick or long eyebrows, a small nose, small stature, developmental delay, long or smooth philtrum, thin upper lip and downturned mouth.The syndrome is named after Dutch pediatrician Cornelia Catharina de Lange, who described it in 1933.
It is often termed Brachmann de Lange syndrome or Bushy syndrome and is also known as Amsterdam dwarfism. Its exact incidence is unknown, but it is estimated at 1 in 10,000 to 30,000.

Signs and symptoms
The phenotype of CdLS is highly varied and is described as a spectrum; from Classic CdLS (with a greater number of key features) to mild variations with only a few features. Some people will have a small number of features but dont have CdLS.Key features:

Long and/or thick eyebrows
Short nose
Concave nasal ridge  and/or upturned nasal tip
Long and/or smooth philtrum
Thin upper lip vermilion and/or downturned corners of mouth
Missing fingers or toes
Congenital diaphragmatic herniaOther suggestive features:

Developmental delay and/or intellectual disability
Small prenatal and birth size / weight
Small stature
Microcephaly (prenatally and/or postnatally)
Small hands and/or feet
Short fifth finger
HirsutismThe following health conditions are more common in people with CdLS than in the general population.

Respiratory illness
Heart defects (e.g., pulmonary stenosis, VSD, ASD, coarctation of the aorta)
Hearing impairment
Vision abnormalities (e.g., ptosis, nystagmus, high myopia, hypertropia)
Partial joining of the second and third toes
Incurved 5th fingers (clinodactyly)
Gastroesophageal reflux
Gastrointestinal abnormalities
Musculoskeletal problems
Scoliosis
Social anxiety
Seizures
Cleft palate
Feeding problemsChildren with this syndrome are often found to have long eyelashes, bushy eyebrows and synophrys (joined eyebrows). Body hair can be excessive and affected individuals are often shorter than their immediate family members. They present a characteristic facial phenotype.Children with CdLS often have gastrointestinal tract difficulties, particularly gastroesophageal reflux. Vomiting, intermittent poor appetite, constipation, diarrhea or gaseous distention are known to be a regularity in cases where the GI tract problems are acute. Symptoms may range from mild to severe.
People with CdLS may exhibit behaviours that have been described as "autistic-like," including self-stimulation, aggression, self-injury or strong preference to a structured routine. Behavior problems in CdLS are not inevitable. Many behaviour issues associated with CdLS are reactive (i.e., something happens within the persons body or environment to bring on the behavior) and cyclical (comes and goes). Often, an underlying medical issue, pain, social anxiety, environmental or caregiver stress can be associated with a change behaviour. If pain or a medical issue is the cause, once treated, the behaviour diminishes.
There is evidence for some features of premature aging including the early development of Barrett’s esophagus, osteoporosis present in the teenage years, premature greying of hair and some changes to the skin of the face causing a more aged appearance compared to chronological age.

Causes
The vast majority of cases are thought to be due to spontaneous genetic mutations. It can be associated with mutations affecting the cohesin complex.As of 2018, it was confirmed that 500 genetic mutations have been associated with the condition; occurring on 7 different genes.  In around 30% of cases of CdLS the genetic cause remains undiscovered. The wide variation in phenotype is attributed to a high degree of somatic mosaicism in CdLS as well as the different genes and type of mutations. For this reason people with CdLS can have very different appearance,  abilities,  and associated health issues.
The latter two genes seem to correlate with a milder form of the syndrome.In 2004, researchers at the Childrens Hospital of Philadelphia (United States) and the University of Newcastle upon Tyne (England) identified a gene (NIPBL) on chromosome 5 that causes CdLS when it is mutated. Since then, additional genes have been found (SMC1A, SMC3 and HDAC8, RAD21) that cause CdLS when changed. In July 2012, the fourth "CdLS gene"—HDAC8—was announced.  HDAC8 is an X-linked gene, meaning it is located on the X chromosome. Individuals with CdLS who have the gene change in HDAC8 make up just a small portion of all people with CdLS. Evidence of a linkage at chromosome 3q26.3 is mixed.Genetic alterations associated with CdLS have been identified in genes NIPBL, SMC1A and SMC3 as well as the more recently identified genes RAD21 and HDAC8.  All of these genetic alterations occurring in CdLS patients affect proteins that function in the cohesin pathway.  SMC1A, SMC3 and RAD21 proteins are structural components of the cohesin ring complex. NIPBL is involved in the loading of the cohesin ring onto chromosomes, and HDAC8 deacylates SMC3 to facilitate its function.  The cohesin pathway is involved in cohesion of sister chromatids during mitosis, DNA repair, chromosome segregation and the regulation of developmental gene expression </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 gingival fibromatosis and explain in detail? [/INST] Hereditary gingival fibromatosis (HGF), also known as idiopathic gingival hyperplasia, is a rare condition of gingival overgrowth. HGF is characterized as a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of keratinized gingiva. It can cover teeth in various degrees, and can lead to aesthetic disfigurement. Fibrous enlargement is most common in areas of maxillary and mandibular tissues of both arches in the mouth. Phenotype and genotype frequency of HGF is 1:175,000 where males and females are equally affected but the cause is not entirely known. It mainly exists as an isolated abnormality but can also be associated with a multi-system syndrome.

Signs and symptoms
There may or may not be any evidence of history of HGF in the family nor any usage of taking long-term medicines for any particular disease when it comes to diagnosing HGF. There also may or may not be any signs of medical and/or family history of mental retardation, hypertrichosis, nor clinical symptoms that can be associated with gingival enlargement. Although, enlargement of gingiva, interdental papilla, hindered speech, and secondary inflammatory changes taking place in the mouth commonly at the marginal gingiva are all very indicative of this condition. Commonly the patient will have mandibular and maxilliary inflammation and overgrowth as opposed to the traditional pink, firm, and fleshy consistency of healthy gingiva. The patients jaw may also appear distorted because of the gingiva enlargements. Overgrowth of the gingiva can range from slightly covering the surface of teeth or it can even completely cover the surrounding teeth. The patient can also experience damage or loss of teeth.

Obvious signs
Most obvious sign is gingival overgrowth (overgrowth of the gums)
Hindered chewing efficiency and difficulties eating
Increasing mobility of teeth
Abnormally shaped teeth and abnormal movement of teeth
Inflammation and/or swelling of the gums/gingiva
Not necessarily any signs of pain but experiencing pain is possible
Difficulties in speaking, oftentimes can lead to speech disorders
Other dental and oral problems
In some cases, Hereditary Gingival Fibromatosis may cause bleeding from the gums, or gum ulcerations.

Cause
Though much more research needs to be done, researchers have mostly agreed that a mutation in SOS1, son-of-sevenless gene, is responsible for this disease. SOS1 is a guanine nucleotide-exchange factor that functions in the transduction of signals that control cell growth and differentiation. A mutation in the SOS1 gene results in a single nucleotide insertion. Specific linkage studies have localized the mutation for isolated, nonsyndromic autosomal dominant forms of gingival fibromatosis to chromosomes 2 and 5, more specifically 2p21-p22 and 5q13-q22.

Genetic
HGF1 - Caused by a mutation in the SOS1 gene localized on chromosome 2p21-p22HGF2 - Caused by a mutation in the SOS1 gene localized on chromosome 5q13-q22Mutations in the RE1-silencing transcription factor (REST) gene can also cause this syndrome.

Non genetic
HGF may also be caused by unwanted side effects of pharmacological agents like phenytoin, ciclosporin, and some calcium-channel blockers, meaning HGF is a disease that can be drug-induced. However, there is little next to no research done in this area to support the claim.

Inflammation
Hormonal Imbalance
Neoplasia
More commonly associated with an autosomal dominant gene inheritance
Multi-system syndromes: Zimmerman-Laband syndrome, Jones syndrome, Ramon syndrome, Rutherford syndrome, juvenile hyaline fibromatosis, systemic infantile hyalinosis, and mannosidosis
Some unknown causes

Mechanism
Genetic linkage studies are among the most popular methods of study to look at the mechanism of this HGF. Genetic linkage studies have found to localize genetic loci for autosomal dominant forms of HGF to chromosome 2p21-p22 (indicative of HGF1) and chromosome 5q13-q22 (indicative of HGF2). Chromosome 2p21-p22 has been refined to an interval of ~2.3 Mb to construct an integrated physical and genetic map of the 16 genes interval. Here, a mutation is found in sequencing these 16 genes.There is an insertion of a cytosine between nucleotides 126,142 and 126,143 in codon 1083 of the SOS1 gene, meaning there is a mutation in SOS1. This causes a problem because SOS1 introduces a frameshift mutation and creates a premature stop codon. Also, it can segregate over generations, most commonly four. Once it causes a premature stop codon, the chromosome loses four important proline-rich SH-3 binding domains in the carboxyl-terminal region of the SOS1 protein. As a result, the N-terminal amino acids for SOS1 is fused into a 22–amino acid carboxyl terminus. Researchers claim that this mutation in the SOS1 gene is a probable primary cause of this disease but limited information supports the mechanism of this claim.

Diagnosis
There are very few ways to test a patient for HGF. Currently, the most common way to diagnose a patient is by means of a physical evaluation. The physician can make a physical evaluation of the patient and send them to a dentist or better yet a specialist like a periodontist to evaluate signs of gingival overgrowth, quality of gingiva, inflammation, mechanical difficulties of the mouth, tooth conditions, and any sort of discomfort.Aside from obvious physical symptoms seen in a physical evaluation, molecular tests can be run to check if there is a mutation in the SOS1 gene to confirm the diagnosis. If there is indeed a mutation in this gene coupled with the typical physical symptoms, then it is quite probable that a patient suffers from this disease. Also, looking at family history is also becoming more prominent in aiding to diagnose the patient. Otherwise, researchers are working to find new and better ways to test for the presence of HGF.

Prevention
Since this condition is generally agreed upon to be hereditary, nothing can be done to prevent HGF. However, in some cases where it can develop as a result of rare multi-system syndromes, such as: Zimmerman-Laband, Jones, Ramon Syndrome, Rutherford Syndrome, Juvenile Hyaline Fibromatosis, Systemic Infantile Hyalinosis, and Mannosidosis, it is best for one to simply monitors the possible progression for HGF with regular dental check-ups.If the patients disease is treated by means of surgery, it is recommended that the patient undergoes post-surgical therapies for maintenance and periodic monitoring of gums for the sake of the possibility of re-occurrence of HGF.

Treatment
This disease has not been shown to be life-threatening or the cause of death in patients </s>