Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 40-year-old woman with clinical and laboratory features of myasthenia gravis, hyperthyroidism, and polymyositis responded to treatment with prednisone alone. Symptoms of myasthenia gravis appeared first followed by hyperthyroid symptoms. Triiodothyronine, thyroxine, and thyroid uptake were elevated as were serum levels of CPK, SGOT, SGPT, and LDH. Muscle biopsy specimen showed mild type II fiber atrophy and a small focus of inflammatory cells. Two weeks after initiation of prednisone, 100 mg every other day, the ESR declined from 44 to 12 mm/hr, serum enzyme values became normal, and the weakness improved. Over the ensuing four months, the thyroid function values returned to normal and the patient no longer needed any anticholinesterase drug. At present, she is functionally normal except for mild defects in eye movement and she takes no medication. Physicians should consider treating patients who have several concurrent autoimmune diseases with prednisone to see if all conditions can be brought under control with one simple therapy.
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PMID:Prednisone use in concurrent autoimmune diseases. 42 Jun 18

A 33-year-old female complained of muscle pain and stiffness after severe exercise from the age of nine. Her sister also had similar symptoms. Consanguinity was found in her parents. Neither muscle wasting nor weakness was detectable. The activity of LDH in the muscle was decreased less to than 8% of normal value. The isoenzyme pattern of the muscle LDH revealed only one band of B4. The levels of blood lactate did not rise on anaerobic exercise, while a marked increase of pyruvate was found. Northern blot analysis showed that the ratio of LDH-A transcript to beta-actin transcript in the patient was similar to that in a normal subject. RNA preparations were reverse-transcribed, amplified by a polymerase chain reaction (PCR), and separated by electrophoresis. The size of PCR product corresponding to exon 6 was decreased. The nucleotide sequence of this product was determined and a 20 bp deletion was found. This mutation results in a frame-shift translation and premature termination. The predicted incomplete LDH-A subunit contains only 259 instead of 331 amino acids. Immunofluorescence for LDH-A subunit could be seen within the cytoplasm and on the surface membrane of the muscle fibers in our patient as well as control subjects by the immunohistochemical studies. These findings suggest that LDH-A mRNA is transcribed in a truncated form and an enzymatically inactive protein is produced in the patient's muscles.
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PMID:[Gene expression in lactate dehydrogenase-A subunit deficiency]. 129 52

A case of B cell lymphoma with clinical and histological features of malignant histiocytosis was described. A 57-year-old male was admitted to Shinshu University Hospital because of transverse myelopathy. Five months before admission, he noticed urinary disturbance, which progressed to urinary obstruction. The following month, bilateral muscular weakness appeared in his legs. A few days later he could not stand up, and was admitted to a local hospital. Neurological examination revealed sensory disturbances below the level of Th12 in all modalities, and marked weakness and hyperreflexia in the lower limbs. A spinal tumor was suspected. However, myelography showed no abnormality. The patient's condition worsened and he became bed-ridden in February 1990. He was transferred to Shinshu University Hospital for further evaluation. On admission he was poorly nourished with fever, anemia, hepatomegaly, and bilateral pretibial pitting edema. No lymphadenopathy was observed. Neurological examination showed total sensory loss below the level of Th12, spastic paraplegia, hyperreflexia in the legs, and urinary obstruction. Laboratory findings revealed an elevated erythrocyte sedimentation rate, increased CRP, pancytopenia, and hypoalbuminemia. Serum level of IgG, IgA, IgM, LDH, ALP, GPT and total bilirubin were increased. CSF and MRI imaging of the spinal cord were normal. Proliferation of atypical histiocytes with marked erythrophagocytosis, which is a characteristic pathological feature of malignant histiocytosis, was observed in peripheral blood and aspirated bone marrow. Immunoenzyme staining of bone marrow using monoclonal antibody L-26, which is a B-cell marker, revealed B-cell lymphoma.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of B-cell lymphoma with clinical and histological features of malignant histiocytosis]. 130 24

A case of 55-year-old man pathologically proven as neoplastic angioendotheliosis was reported. He initially developed sensory disturbance and motor weakness in the lower extremities. After admission, he showed progressive deterioration of higher brain functions with moderate fever. Routine laboratory examinations revealed elevated serum LDH level and erythrocyte sedimentation rate without leukocytosis or increased serum globulin level. Immunological tests were normal, except positive RA. Immunocytochemical investigation of tumor cells in the blood vessel gave the results that these cells appeared to be derived from B cells. Southern blot analyses of the brain samples revealed clear positive bands corresponding to JC virus DNA in the blot. JC virus has been known to infect the endothelial cells of the blood vessel as well as urethral epithelial cells. We discussed the possible mechanism of the selective growth of tumor cells in the blood vessel in terms of possible JC virus infection to the endothelial cells of the blood vessel and abnormal recognition between tumor cells and endothelial cells.
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PMID:[A case of neoplastic angioendotheliosis--possible mechanism of JC virus infection for the selective growth of tumor cells in the blood vessel]. 166 71

Neurological investigations were performed for 53 cases with chronic lymphocytic thyroiditis diagnosed by pathology and serum antithyroid antibodies determination. Of the 53 cases, 29 had different types and severity with neurological findings, which could be divided into 5 groups: 1) Elevated levels of acetylcholine receptor antibody in 13 cases (24.1%); 2) Myopathy and weakness accompanied by elevated serum enzyme levels (GOT, CPK, LDH and alpha-HBDH) in 7 cases (13%); 3) Peripheral neuropathy in 6 cases (11.1%); 4) Encephalopathy in 2 cases (3.7%); and 5) The changes in sella turcica in 2 cases. Our data showed that the neuropathy was not closely correlated to the duration of chronic lymphocytic thyroiditis and seemed that it had no relation with the thyroid function and titer of antithyroid antibodies. However, neuropathy occurred more often in cases with both chronic lymphocytic thyroiditis and some other autoimmune disorders, suggesting that abnormal immune function might be the common background patients with chronic lymphocytic thyroiditis and neuropathy. The aforementioned data suggest that the hypothyroid function and high titer of antithyroid antibodies might not be a prerequisite for developing neuromyopathies.
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PMID:[Neuropathy and myopathy in patients with chronic lymphocytic thyroiditis]. 214 91

A 25-year-old female patient with an approximate 10-year-history of slowly progressive muscle weakness was diagnosed as a manifesting carrier of Duchenne muscular dystrophy (DMD) because her muscle biopsy showed scattered fibers with no dystrophin on immunohistochemical staining. She had no family history of neuromuscular disorders. She was in good health until about 14 years of age, when she developed muscle weakness and atrophy of the extremities with slow aggravation. On admission at the age of 25 years, she had asymmetrical muscle atrophy in the lower extremities; the left femur, right femur, left crus, and right crus measured 36.0, 40.5, 31.5, and 35.5 cm in circumference, respectively. However, the muscle weakness of the extremities was symmetrical with no laterality, and the proximal muscles in the lower extremities were predominantly affected to 3+/5 MMT test. She walked with a mild wadding manner and stood up with Gower' maneuver. Deep tendon reflexes of the extremities were almost normoactive with no pathologic reflexes. As to laboratory findings, serum enzymes of muscular origin were elevated; GOT was 44 IU/l, GPT 60 IU/l, LDH 829 IU/l, CK 4238 IU/l, and aldolase 31 SL units. The electromyogram showed myopathic changes mixed with some neurogenic components. Peripheral nerve conduction velocity was normal. A computed tomography of the skeletal muscles showed more marked atrophy and lower density in the left lower extremity than in the right. The biopsied left gastrocnemius muscle demonstrated a marked variation in fiber size with some necrotic and regenerating fibers. On immunohistochemical stain with anti-dystrophin antibody, the dystrophin negative fibers were scattered among positive fibers in a mosaic distribution.
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PMID:[A manifesting carrier of Duchenne muscular dystrophy presenting mosaic distribution of dystrophin negative and positive muscle fibers]. 218 62

A case of 25-year-old woman with glycogen storage myopathy is reported here. She was hospitalized for acute heart failure after alcohol drinking. The electrocardiogram on admission showed marked ST elevation. Laboratory data showed elevated levels of serum myogenic enzymes but no rise in cardiomyogenic enzyme: CK 3862 IU/l CK-MB 35 IU/l, LDH 427 IU/l, GOT 203 IU/l. After several days, she recovered from acute heart failure and could walk without supporting. ST elevation in ECG and elevated myogenic enzymes were also normalized. The occurrence of acute myocardial infarction was ruled out because a coronary angiogram and 99 Tcm scintigram were normal. Physical examination revealed proximal muscular weakness and mental retardation (WAIS, total 72). Venous lactate response was normal after semi-ischemic forearm exercise. PAS staining of muscle specimen showed an excess deposit of glycogen. Ragged-red fibers were not seen on Gomori-trichrome stain. By electron microscopy, a large amount of glycogen particles were demonstrated in the subsarcolemma, but there were no abnormal mitochondrial changes. Biochemical analysis showed accumulation of glycogen in muscles: 28.7 mg/g muscle (normal 11.4 +/- 4.2 mg/g muscle). The activities of enzyme in the pathway of glycogen and glycogenosis (alpha-glucosidase, amylo-1,6-glucosidase, phosphorylase a, phosphorylase kinase, phosphofructokinase, etc.) were within normal limits. The spectrum of glycogen iodine complex was normal. Our case was different from any type of muscle glycogen storage disease previously reported. The etiology of an excess of glycogen deposit in muscles is unknown.
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PMID:[A case of glycogen storage myopathy with acute heart failure]. 220 34

In thalassemia major (TM) one third of patients suffers from muscle wasting, weakness and cramps. Six patients with TM were studied. All had muscle wasting and proximal weakness; serum levels of vitamin E were low (0.6-7.0 micrograms/dl) while CPK, LDH and aldolase were normal. EMG revealed low-amplitude short-duration polyphasic potentials in 3 patients and normal activity in 3 others. Nerve conduction velocities were normal in 3 patients studied. On muscle biopsies, moderate variation in fiber size with fiber atrophy and preponderance of type 1 fibers were discovered. Our findings confirm the existence of nonspecific myopathic changes in TM. Chronic vitamin E deficiency should be considered in the pathogenesis of the myopathy in TM.
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PMID:Myopathological findings in thalassemia major. 228 8

A 51-year-old female with systemic lupus erythematosus (SLE) was admitted in November 1987 because of general fatigue and muscular weakness. She was treated with prednisolone (PSL) 30 mg and azathioprine (AZP) 50 mg after failure in the management of thrombocytopenia by PSL 15 mg. She exhibited no splenomegaly. Muscular atrophy and weakness were seen in the proximal muscles. Her platelet count was 44,000/microliters. A bone marrow aspiration revealed an increase in megakaryocytes. The blood chemistry revealed a normal CPK level and an elevated LDH level, indicating a presence of steroid myopathy. A splenectomy was performed after an increase of platelet count by giving gamma-globulin 400 mg/kg for 5 days. The platelet count rose to 368,000/microliters on the 46th postoperative day. She was treated with PSL 5 mg and AZP 50 mg as postsplenectomy therapy. The splenectomy did not adversely affect other aspects of SLE, in particular, renal function. She had no major complications in the postoperative period. Her platelet count reached a plateau 4 months later and revealed 115,000/microliters 18 months postoperatively.
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PMID:[Effect of splenectomy for management of thrombocytopenia associated with systemic lupus erythematosus: a case report]. 231 6

Myocardial infarction is very rare in women under the age of 40 amounting to only .3-.57% of cases according to Polish studies, and it is 10 times less in women than in men. Nevertheless, the use of contraceptives has been implicated in triggering it by diminishing the synthesis of antithrombin III. The use of alcohol can cause the reduction of the fibrinolytic activity of the blood. The case of a 33- year old female patient, a laborer in a brewery is presented, who sought medical help from the company medical staff after 2 weeks of generalized weakness, vertigo, chest pain, and loss of breath under strain. Physical labor had to be discontinued. EKG (electrocardiogram) showed extensive primary and secondary myocardial infarction in progress. She had been taking contraceptives for 3 weeks (1 pill of Femigen once a day). She was drinking 50 g of alcohol daily in the form of 1 liter of beer. She did not smoke, and no circulatory disorder was ascertained. Laboratory tests showed no disorder of aminotransferase or LDH activity, but fibrinogen level (23.5 mcmol/1), antithrombin III level (.124 g/l), and fibrinolysis time (320 minutes) values were abnormal. There was no disorder in the lipid and carbohydrate metabolism, and thyroid hormone level was normal. traditional therapy was prescribed for 2-3 weeks of the infraction: nitrates, rest and avoidance of physical exertion. After administration of castor oil, 2 weeks late an EKG test showed the normalization of all parameters of blood coagulation, and the HDL cholesterol level also dropped. The concomitant use of contraceptives and alcohol can increase the risk of myocardial infraction, therefore they should not be used together, but if such a situation occurs, the control of blood coagulation parameters must be undertaken.
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PMID:[A case of extensive myocardial infarction in a young woman as a complication of oral contraceptives and alcohol]. 245 8


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