Gene/Protein Disease Symptom Drug Enzyme Compound
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Erythema Nodosum (EN) is a painful nodular syndrome, most likely of immunologic origin, which involves dermis and subcutaneous tissue. Pathologic process is that of vasculitis of the small veins with inflammation of the septa of the fat lobules (septal panniculitis). It is generally agreed that EN represents a hypersensitive reaction to a variety of antigenic stimuli and thus may be observed in the course of several diseases (infections, immunopathies, malignancies) as well as during drug therapy (with halides, sulfonamides, oral contraceptives). In approximately 50 per cent of the cases an underlying etiology is not apparent (idiopathic form). The clinical picture is always that of a nonspecific systemic illness with low-grade fever (in 60%), malaise (in 67%), arthralgias (in 64%) and arthritis (in 31%), while when there is an associated illness, this may dominate the presentation. Laboratory tests show no specific abnormalities except for those related to an underlying disease. Treatment of idiopathic form includes nonsteroidal antiinflammatory agents which usually ease the discomfort. Steroids, although highly effective, are not recommended because of the benign nature of EN and the danger of disseminating an underlying disease.
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PMID:[Erythema nodosum: epidemiology, etiology, pathogenesis, clinical picture and therapy]. 269 21

Ill-defined endogenous factors are important in many cases of hand dermatitis; however, these factors are difficult to identify, and, ultimately, there is little the physician can do to alter a patient's constitution. Because of this, therapy of hand dermatitis focuses on identifying exogenous factors and avoiding these where possible. Steroids are invaluable, but gentle skin care remains the basis of treating hand dermatitis. Recalcitrant hand dermatitis, especially potential occupational cases, requires the involvement of a dermatologist.
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PMID:Management of hand dermatitis. 792 32

Pouchitis is a significant long-term complication of restorative proctocolectomy. Pouchitis is characterized by diarrhoea, fever, malaise, abdominal pain and in few a patients a worsening of already present extraintestinal manifestations may occur. The estimated probability of pouchitis occurring within five years is approximately 35%. Standard diagnostic criteria have not yet been established, but clinical symptoms, endoscopic and histological features should be included. The cause of pouchitis is unknown, bacterial over-growth, faecal stasis, oxygen free radicals, secondary and deconjugated bile acids, shortchain fatty acids, gastrointestinal hormones and an immunologically-mediated reaction have all been suggested as possible etiological factors. Metronidazole is the most commonly used treatment and has prompt effect in more than 90% of the patients. Steroids and 5-aminosalicylic acid derivatives also seem to be effective. A diverting ileostomy is necessary in only five to seven percent of the patients, and in less than one percent does pouchitis result in excision of the pouch. Controlled trials with uniform diagnostic criteria are required to assess the effectiveness of the individual regimens.
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PMID:[Pouchitis: acute inflammation in the pelvic ileal reservoir. Diagnostic criteria, frequency, possible etiological factors and treatment]. 835 64

The history of antiarrhythmic therapy reveals these agents to be associated with a high incidence of toxicity. Although several agents have ocular effects, amiodarone is the most widely recognized for producing adverse effects in the eyes. Corneal microdeposits are almost ubiquitous in patients being treated with amiodarone. However, they are, for the most part, benign and produce no changes in visual acuity. Lack of microdeposits should prompt the physician to investigate whether there is a problem with drug absorption or adherence to therapy. Other effects on the eye have been reported including optic neuropathy, but no causal link has been proved with amiodarone. The population of patients treated with amiodarone often have ischemic disease and/or diabetes, which affect retinal and optic nerve health. Many antiarrhythmic agents also affect lung function. The frequent association of procainamide with a lupus-like syndrome, where half the cases develop pleural-pericardial involvement, may require discontinuation of that drug. Although beta blockers and to a lesser degree, calcium antagonists, may cause bronchospasm in some patients, this is not usually a major clinical problem. Again, it is amiodarone that has the most widespread reputation for causing pulmonary toxicity. Although infrequent (< 1% incidence), it generates the most fear as it is sometimes fatal. Because of the lack of a diagnostic "gold standard," it is often overdiagnosed, placing patients at risk from overlooked congestive heart failure and infections and from recurrent arrhythmias after drug withdrawal. Patients with pre-existing pulmonary disease appear to be more at risk. Common features include indolent onset of cough, malaise and fever associated with patchy peripheral infiltrates, and severely decreased diffusion capacity. Several cases of pulmonary toxicity have had inordinately high serum desethylamiodarone to amiodarone ratios. Most cases recover with cessation of amiodarone therapy. Steroids are commonly used, but are of unproved efficacy. In terms of its toxicity, amiodarone remains the most feared of the antiarrhythmic agents. In the future, a better understanding of its pharmacokinetics, mechanisms of toxicity, and optimal dosing regimens should provide a possibility of better strategies for avoidance, early diagnosis, and more directed therapy of toxicities associated with amiodarone.
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PMID:Clinical organ toxicity of antiarrhythmic compounds: ocular and pulmonary manifestations. 1056 58

52 patients (30 male, 22 female) with paroxysmal cold haemoglobinuria (PCH) were identified by critically examining the records of all cases with Donath-Landsteiner antibodies seen over a 37 year period. Although ages ranged from 1-82 years, PCH was much commoner in young children; the median age at presentation was 5 and the peak incidence, 0.4 per year per 100,000 of the population at risk, was in the 4 years and under group. 44 patients had acute transient PCH, 3 chronic non-syphilitic PCH and 1 chronic syphilitic PCH; 4, in whom the positive Donath-Landsteiner tests were incidental findings, could not be classified. Acute PCH typically presented in young children as sudden onset of malaise, haemoglobinuria and pallor, often associated with mild jaundice - all 30 patients who were 13 or younger had this type. There was usually a history of a recent viral type infection, most commonly of the upper respiratory tract. The occurrence of acute PCH had no obvious relation to exposure to cold. Dramatic and rapid falls in haemoglobin level were common, often accompanied initially by relative or absolute reticulocytopenia. The illness was severe, but the prognosis was generally good and the majority of patients had completely recovered within one month, some requiring no treatment. In approximately 68% of patients, blood transfusion was needed; the P blood group was not taken into account, but the patients were kept warm throughout. Steroids (usually prednisolone) were given in many cases; but since there was no evidence to support their benefit, it was recommended that they were stopped as soon as the diagnosis was confirmed. Chronic non-syphilitic PCH was much rarer; the patients had a characteristic presentation of severe systemic symptoms (paroxysms) and haemoglobinuria brought on by exposure to cold. The clinical manifestations varied in intensity between individuals; at the extreme, severe debility was experienced over many years. Warmth and avoidance of cold were an effective treatment, though in a severely afflicted patient, an attack could be precipitated by relatively little exposure to cold. With chronic syphilitic PCH there was the added need to treat the specific infection. The direct antiglobulin test was almost always positive (50 out of 51 cases tested), with C3d coating the red cells. The Donath-Landsteiner antibodies were of IgG class, but this was rarely demonstrated unless direct antiglobulin tests were carried out at 4 degrees C. The antibodies showed the classical anti-P specificity in 27 of the 30 patients tested; other specificities were unusual. Although acting much better as haemolysins, Donath-Landsteiner antibodies could also cause weak agglutination at room temperature. This was paralleled in vivo by predominantly intravascular haemolysis with an extravascular component. Diagnosis was usually easy when PCH was suspected, though in some patients Donath-Landsteiner tests did not become positive until more sensitive techniques involving papainised red cells or two-stage procedures were employed. Of particular interest was the association in some cases with lymphoproliferative disorders, collagen disease, myelodysplastic syndrome, delayed haemolytic transfusion reaction and other types of autoimmune haemolytic anaemia. In one patient, an aetiological relationship was confirmed by a saline extract of lymphoma tissue behaving as a strong Donath-Landsteiner antibody with the same anti-P specificity as the serum. 4 patients had other types of autoimmune haemolysis concomitant with, but distinct from, the PCH; in 3 cases this was cold haemagglutinin disease and in one it was warm type autoimmune haemolytic anaemia.
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PMID:Erythropoiesis: Paroxysmal Cold Haemoglobinuria: A Clinico-Pathological Study of Patients with a Positive Donath-Landsteiner Test. 1139 60

Peritonsillar abscess remains the most common deep infection of the head and neck. The condition occurs primarily in young adults, most often during November to December and April to May, coinciding with the highest incidence of streptococcal pharyngitis and exudative tonsillitis. A peritonsillar abscess is a polymicrobial infection, but Group A streptococcus is the predominate organism. Symptoms generally include fever, malaise, sore throat, dysphagia, and otalgia. Physical findings may include trismus and a muffled voice (also called "hot potato voice"). Drainage of the abscess, antibiotics, and supportive therapy for maintaining hydration and pain control are the foundation of treatment. Antibiotics effective against Group A streptococcus and oral anaerobes should be first-line therapy. Steroids may be helpful in reducing symptoms and speeding recovery. To avoid potential serious complications, prompt recognition and initiation of therapy is important. Family physicians with appropriate training and experience can diagnose and treat most patients with peritonsillar abscess. (Am Fam Physician.
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PMID:Peritonsillar abscess. 1824 91

Wegener's Granulomatosis (WG) is a rare, Multisystem disease of the medium and small sized arteries and veins. It most commonly involves the upper respiratory tract, lungs, and kidneys and often presents as chronic fatigue, upper respiratory infection, sinusitis, and otitis media. Symptoms can include fever, weight loss and fatigue, though these are not usually the primary presenting complaints. development of the disease is highly skewed across ethnicities, with up to 98% of cases being reported in caucasians. We present the case of a 56-year-old African-American male who presented primarily with complaints of uncontrollable fever of unknown origin (FUO) for past two weeks with accompanying sore throat, nasal congestion, night sweats, malaise, and unexplained weight loss of 10 pounds over the past month. Treatment with antibiotics for one week prior to admission showed no relief of symptoms. Chest x-ray showed focal course markings in the right upper lobe. Urinalysis revealed microscopic hematuria and leukocyturia. Chest and abdominal CT scans revealed a right lower lobe pulmonary nodule and heterogeneous areas of enhancement in the spleen. Head CT revealed right mastoid opification. Labs revealed proteinase-3 antibody titer > 100, which is characteristic of WG. Steroids and cyclophosphamide were started with relief of presenting symptoms. Renal biopsy showed pauci-immune P-ANCA associated crescentic and focally necrotizing glomerulonephritis and vascilitis. This case is unique in that the patient presented with primary complaint of FUO. WG should be considered as a rule-out in cases of uncontrollable FUO, even if none of the classic triad of symptoms is present. Though rare, WG should be considered in cases involving non-Caucasian patients.
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PMID:Wegener's granulomatosis presenting as fever of unknown origin in an African-American male. 1860 51

Febrile ulceronecrotic Mucha-Habermann disease is a severe variant of pityriasis lichenoides et varioliformis acuta characterized by the sudden onset of ulceronecrotic skin lesions and associated with high fever and systemic symptoms. We report here a case of a 20-year-old woman in whom the disease started as pityriasis lichenoides et varioliformis acuta and evolved to febrile ulceronecrotic Mucha-Habermann disease. Almost 90% of the body surface was involved, together with high fever and malaise. Steroids alone proved to be an insufficient therapeutic procedure. The remission achieved was attributed to the use of methotrexate. To our knowledge, only 39 cases of febrile ulceronecrotic Mucha-Habermann disease have been reported in the literature to date.
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PMID:Febrile ulceronecrotic Mucha-Habermann disease: a case report and review of the literature. 1870 4

Relapsing polychondritis (RP) is a rare connective tissue disease which affects cartilaginous tissues of the nose, earlobes, respiratory tract, and joints, as well as proteoglycan-rich tissues including the media of the arteries, the conjunctiva and sclera of the eye. The disease is most common in patients aged 40-60 years. It may for a long time cause unspecific signs (fever, malaise), which may cause a significant delay in establishing the diagnosis and initiating the ppropriate treatment. The mean time from symptom onset to diagnosis is 2.9 years. Steroids are the mainstay of therapy, but methotrexate and dapsone may also be beneficial in some patients. A case of RP presenting with fever, anemia, fatigue, arthritis, conjunctivitis, and auricular deformation is described. There were signs and symptoms suggestive of an infectious disease but no infection had been found, and despite tentative administration of antibiotics, the patient's condition steadily deteriorated. Eventually, the diagnosis was established based on McAdam's criteria. After intiating steroid therapy, the patient's condition improved significantly. We discuss the diagnostic criteria and treatment of this rare disease.
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PMID:Relapsing polychondritis: case report and literature review. 1984 47

Minimal change disease (MCD) is an etiology of nephrotic syndrome that is more common in the pediatric population as compared to the adult population. Steroids are an effective treatment for MCD. Non-steroidal anti-inflammatory drugs (NSAIDS) are well known for their nephrotoxicity when used chronically. However, there are only few cases of NSAIDS-induced MCD that have been reported in the literature. Our patient is a 72-year-old male with no significant past medical history who presented with shortness of breath, fatigue, and malaise for few weeks. His renal function was declining in the hospital despite renal protective therapies. His medication history was significant for chronic BC powder (high dose aspirin with caffeine) use. Renal biopsy was performed and showed MCD and acute tubular necrosis. Steroids were initiated and patient's kidney function improved.
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PMID:Minimal Change Disease Associated with High-dose Aspirin. 3054 27


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