Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.6.1.1 (aspartate aminotransferase)
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Sarcocystosis in psittaciform birds occurs in several different presentations, making ante-mortem diagnosis challenging without specific laboratory tests. This study followed the course of 11 birds diagnosed with sarcocystosis by serologic analysis and/or post-mortem examinations during a 10-month period in 2006-07. The disease presented in three different clinical forms: an acute pulmonary disease (three birds), muscular disease (five), and neurological disease (three). Early diagnosis of sarcocystosis was possible through the combined used of plasma protein electrophoresis and indirect fluorescent antibody serology in birds presented with the neurological and muscular forms of the disease. In three of these birds the plasma electrophoretic patterns revealed marked hypergammaglobulinemia. All of the birds that presented with the acute pulmonary form developed similar gross and microscopic lesions. Definitive diagnosis was ultimately made by microscopic observation of intravascular pulmonary schizonts containing merozoites. Schizonts were identified in the cerebellum and brainstem in two birds with the neurological form of disease. Those birds that initially presented with severe lethargy and weakness were considered to suffer from the muscular form of disease if they had extreme elevations of muscle enzyme activities (creatine phosphokinase, aspartate aminotransferase) and beta and gamma globulins concentrations, and were seropositive for antibodies to Sarcocystis falcatula. In this group the progression of the disease varied. Two birds recovered completely, and secondary aspergillosis was diagnosed in three birds. The histopathological lesions observed are discussed and interpreted in light of earlier findings from experimental infections in budgerigars, which provide insights into the natural course of sarcocystosis in psittaciform birds.
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PMID:Clinical presentation and pathology of sarcocystosis in psittaciform birds: 11 cases. 1845 22

Acute rhabdomyolysis is a syndrome characterized by the lesion of skeletal muscle resulting in subsequent release of intracellular contents into the circulatory system, which can cause potentially lethal complications. These contents include myoglobin, creatine phosphokinase, potassium, aldolase, lactate dehydrogenase and glutamic-oxaloacetic transaminase. There are numerous causes that can lead to acute rhabdomyolysis and many of patients present with multiple causes. The most common potentially lethal complication of rhabdomyoloysis is acute renal failure. In this article we present a case of a patient that developed clinical signs of acute rhabdomyolysis after consumption of heroin and alcohol. After approximately nine hours of alcohol and heroin induced coma he had acute compartment syndrome of the right arm, and clinical and laboratory signs of acute rhabdomyolysis with acute renal failure as a complication of rhabdomyolysis. Acute rhabdomyolysis developed in the patient as the result of acute compartment syndrome, with direct toxic activity of alcohol and diamorphine. During the period of coma, due to lying in particular position over a long period of time, pressure upon the certain part of the body caused muscle compression and capillary occlusion in fascial compartments, which led to ischemia. Upon pressure relief and beginning of tissue recovery, post ischemic compartment syndrome occurred with subsequent rhabdomyolysis. Getting out of coma the patient started to complain of severe pain in the right arm, which clinically worsened on passive stretching of the limb, with the loss of sensation and weakness. Laboratory findings showed high levels of creatine phosphokinase as the most sensitive marker of muscular damage. The peak of creatine phosphokinase level can be predictive for the development of acute renal failure because myoglobin level may return to normal within 6 hours after muscle injury. The peak of creatine phosphokinase (186.080 U/L; normal range 0-177) was recorded at 12 hours of admission. Other pertinent laboratory results such as urea, creatinine, prothrombin time, alanine aminotransferase and aspartate aminotransferase were also changed significantly. The peak of potassium level before dialysis was 6.8 mmol/L. Emergency fasciotomy of the anterior and posterior compartment syndrome was performed by a team of physicians after clinical examination. The second look debridement was performed at 48 and 72 hours. The plastic surgical procedure was performed 4 weeks later. On admission the patient also had oliguria with dark brown pigment in his urine. Arterial blood gases revealed metabolic and respiratory acidosis. The patient was hypovolemic and IV rehydratation with crystalloids, sodium bicarbonate and mannitol started immediately upon admission. Despite therapy his urine output decreased. Hemodialysis was initiated at serum potassium level of 6.8 mm/L and continued until his urine output returned to normal in three weeks. The patient was discharged from the hospital after six weeks, with normal urine output, without functional abnormality in his upper right limb. Acute rhabdomyolysis should be considered as a possibility in any patient with prolonged imobilization while in coma as well as in any intoxicated patient. Of course, creatine phosphokinase is the most sensitive indicator of muscle injury and the degree of creatine phosphokinase elevation correlates with the amount of muscle injury and disease severity. Other laboratory findings can help identify common complications of rhabdomyolysis such as acute renal failure, metabolic derangements and disseminated intravascular coagulopathy.
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PMID:[Acute rhabdomyolysis: a case report and literature review]. 1884 54

A 16-year old girl presented with rapid onset of muscular weakness and a history of severe dysphagia, dysphonia and significant wasting. On examination, she was dystrophic (BMI 15.7) and had signs of myopathy. Laboratory findings confirmed myopathy (CPK 106.4 microkat/L (6384 IU/L), AST 2.86 microkat/L (171.6 IU/L), myoglobin 1582 microg/L). There was profound hypokalaemia (S-K 1.8 mmol/L) suggesting hypokalaemic paralysis. Diagnosis of distal renal tubular acidosis (dRTA) was based on combination of hyperchloremic metabolic acidosis, severe hypokalaemia, high urinary pH and positive value of urinary anion gap. There was evidence of other signs of renal tubular impairment (urinary beta-2-microglobulin 213 mg/L, glomerulotubular proteinuria 1.01g/24h). Autoimmune tests (rheumatoid factor, antinuclear antibodies, autoantibodies to Ro/SSA and La/SSB) together with symptoms of xerostomia with swallowing difficulties and atrophic glossitis suggested primary Sjogren's syndrome (SS) as the underlying cause of dRTA. The renal biopsy confirmed chronic tubulo-interstitial nephritis compatible with this diagnosis. Full recovery of muscle weakness and hypokalaemia and acidosis followed after potassium and alkali replacement therapy. Corticosteroids were administered with subsequent addition of cyclosporine A because of disease activity. In conclusion, primary SS is a rare diagnosis in childhood and adolescence and should be considered in patients presenting with hypokalaemic paralysis, as this might be due to dRTA, even in the absence of apparent sicca syndrome.
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PMID:Hypokalaemic Paralysis Revealing Sjogren's Syndrome in a 16-Year Old Girl. 1927 13

Four cases, including three adults and one child, suffering from acute poisoning with Tricholoma equestre were described. The patients had eaten from 100 to 400 grams of the mushroom within a few consecutive meals. After consuming about 1000 grams of Tricholoma equestre for 3-4 days, the subjects developed fatigue, muscle weakness, myalgia, and in two cases acute respiratory failure with the need of respiratorotherapy. Maximal serum CK was 48136 U/L in the adults and 306 U/L in children. Maximal serum levels of AST and ALT were 802 U/L and 446 U/L in adults and 39 U/L, and 56 U/L in a child. All routine biochemical tests were within normal range. No other causes of rhabdomyolysis such as parasitic or viral infections, immune diseases, trauma or exposure to medications were found. Patient, aged 72 yrs., who developed acute respiratory failure, died in the second day of hospitalization. In other patients all the above mentioned symptoms and biochemical abnormalities disappeared from 2 to 3 weeks of hospitalization. Physicians should be aware of the possibility of appearance of rhabdo-myolysis after repeated consumption of large quantities of Tricholoma equestre.
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PMID:Acute poisoning with Tricholoma equestre. 1978 44

The new antivirals clevudine, telbivudine and emtricitabine may be potent agents for the treatment of hepatitis B virus (HBV). However, there have been no reports on serious adverse events associated with the use of clevudine. A son and his mother both had HBV infection (ages: 27 and 47 years, respectively), and they had received antivirus treatment with clevudine (30 mg daily). They developed progressive weakness of the lower extremities and difficulty arising from the ground. Both the patients had symptoms for the previous 3 approximately 4 months in process of 14 approximately 17 months of clevudine therapy. The physical examinations showed positive Gower's sign, a decreased gait velocity and symmetrical proximal weakness (MRC grade 4/5). Their blood tests at admission revealed elevated or positive HBs Ag, HBV DNA, AST, ALT, creatine kinase, LDH, myoglobin and CK-MB. For both patients, the electrodiagnostic studies indicated myopathy and the pathologic findings of biopsied muscles revealed myositis. Drug-induced polymyositis was suspected and the clevudine was finally withdrawn. The muscle weakness and laboratory findings were improved for both patients after conservative care. We report here on the first cases of polymyositis that may have been caused by administering the new nucleoside analog clevudine for treating HBV infection.
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PMID:Polymyositis in patients taking antiviral clevudine therapy: a report of two cases. 2020 82

A red-necked male wallaby (Macropus rufogriseus) from a German zoo was presented for acute onset of severe neurological signs, including head tremor, lethargy, unresponsiveness, and weakness. Serum biochemical abnormalities included increased LDH- and AST-levels, hyperproteinaemia, and reduced ALT-, ALP-, and creatinine-levels. The wallaby was found serologically positive for Toxoplasma gondii by the indirect haemagglutination test. After initiation of therapy by subcutaneous injections of trimethoprim/sulfadoxin, amelioration of neurological signs was noted and after 10 days the affected wallaby recovered. T. gondii can be confirmed rapidly by serology, and immediate therapy may reduce clinical illness and fatality of the disease within captive macropods.
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PMID:Presumptive Acute Neural Toxoplasmosis in a Captive Red-Necked Wallaby (Macropus rufogriseus). 2061 47

Infectious Mononucleosis (IM), a benign lymphoproliferative disease, is the best known clinical syndrome caused by Epstein-Barr Virus (EBV). It usually resolves over a period of weeks or months without sequelae but may occasionally be complicated by a wide variety of neurologic, hematologic, hepatic, respiratory, and psychological complications. In this report we describe a patient with acute hepatitis following EBV-IM in a previously healthy woman. A 26-year-old woman who presented with fever, generalized weakness, nausea, sore throat, yellowing of skin, and a generalized skin rash was admitted to our clinic. Tonsillar enlargement, pharyngeal erythema, palatal petechiae, lymphadenopathy, and jaundice were noted. Significant atypical lymphocytes ( > 10%) were seen on the peripheral blood smear. Liver function tests such as ALT: 303 U/L, AST: 172 U/L, ALP: 193 U/L and total bilirubin: 7.3 mg/dl were elevated. Serological tests for EBV infection were consistent with acute infection (EBV virus capsid antigen was reactive with IgM and IgG antibodies). The Monospot test was also positive. On the seventh day, liver function tests and bilirubin had risen to peak level and platelets were decreased. The patient was managed supportively and her critical condition improved and was finally stabilized. Although the prognosis for IM is very favorable, a variety of acute complications may occur.
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PMID:Acute hepatitis: a rare complication of Epstein-Barr virus (EBV) infection. 2104 62

We previously reported that the level of low-density lipoprotein cholesterol (LDL-C) was higher in patients receiving continuous ambulatory peritoneal dialysis (CAPD) than in patients on hemodialysis (HD). One of the problems associated with reaching the LDL-C target during statin treatment of patients on CAPD is the emergence of laboratory or clinical side effects. The present study evaluated the efficacy and tolerability of daily combined treatment with ezetimibe 10 mg and simvastatin 10 mg in patients receiving CAPD. Our study enrolled 12 CAPD patients who were experiencing adverse effects from statin therapy. Their existing statin therapy was suspended for 1 month ("washout period"), and the patients were then shifted to treatment with the ezetimibe-simvastatin combination. The patients were again monitored for adverse events such as asthenia and myalgia during the subsequent 12 months. Body mass index and levels of glycated hemoglobin, fasting plasma glucose, total cholesterol, LDL-C, triglycerides, alanine amino-transferase, aspartate aminotransferase, and creatinine phosphokinase were also assessed. The combination of ezetimibe and low-dose simvastatin significantly reduced levels of total cholesterol (by a mean of 27%), triglycerides (by 9%), and LDL-C (by 33%) and increased levels of high-density lipoprotein cholesterol (by 15%). In 11 patients (92%), the target LDL-C level of less than 100 mg/dL was reached. No significant change in weekly creatinine clearance occurred, and no serious adverse effects were observed. No patient developed muscle pain or weakness, and no increase in creatinine kinase was found. Residual renal function declined, although not significantly when compared with initial values. In conclusion, the present study suggests that combined ezetimibe and low-dose statin treatment is a promising approach for safe and effective primary treatment of dyslipidemia in CAPD patients.
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PMID:Efficacy and safety of ezetimibe and low-dose simvastatin as primary treatment for dyslipidemia in peritoneal dialysis patients. 2134 80

We report a 57-year-old woman with a 20-year history of hepatitis B presenting with progressive proximal lower limb weakness for the previous 1 month. Previous medical history included a pericardial and pleural effusion, of which no cause was found and pulmonary tuberculosis which has been adequately treated. Examination revealed multiple telangiactasia over face and nail beds and bilateral proximal lower limb weakness of power 4/5. Biochemical investigation revealed a raised erythrocyte sedimentation rate of 36 mm/h, elevated creatinine kinase levels (14,363 IU/L) and raised liver enzymes (alanine aminotransferase 445 IU/L, aspartate aminotransferase 606 IU/L) with high hepatitis B virus DNA (1,021,158 copies/mL). Nerve conduction tests and muscle biopsy were consistent with polymyositis. She received entacavir for hepatitis B treatment. Despite treatment with entacavir for 10 weeks, her weakness persisted and prednisolone was added. Upon commencement of prednisolone, her symptoms and biochemical profiles returned to normal.
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PMID:Polymyositis associated with hepatitis B: management with entacavir and prednisolone. 2181 12

Inflammatory myositis is reported in 4-16% of adult systemic lupus erythematosus (SLE) patients. The aim of this study was to determine the prevalence of myositis in a cohort of pediatric SLE patients in the southeastern United States. A retrospective chart review was performed of 55 SLE patients evaluated by Pediatric Rheumatologists in Alabama since January 1, 2008. Patients were defined as having myositis if they satisfied one of the following categories: 1) Proximal muscle weakness on exam with lower extremity muscle edema on MRI; 2) Proximal muscle weakness with elevation in CK, AST, aldolase, or LDH muscle enzymes; or 3) Patient reported weakness or muscle pain and an elevated CK. Inflammatory myositis was present as a feature of SLE in 31% (n = 17) with a 95% confidence interval of 19-45%, statistically different from the reported rates of 4-16% (p < 0.0001). Myositis was positively associated with the presence of anti-ribonucleoprotein antibodies (p = 0.009). Negative associations with myositis were the presence of anti-double stranded DNA antibodies (p = 0.02) and hematologic disorders (p = 0.02). Thus, in the state of Alabama, pediatric SLE myositis is present at a statistically higher rate than previously published values of adult SLE myositis, possibly reflecting geographic (genetic or environmental) and/or age-of-onset related influence(s).
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PMID:High prevalence of myositis in a southeastern United States pediatric systemic lupus erythematosus cohort. 2182 46


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