Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A girl in whom a ring chromosome 13 was found, presented with microcephaly, mental retardation and multiple minor malformations. She was born after a full term pregnancy, small for date and with a small head circumference. She underwent craniotomy at the age of 18 months because of premature closure of the metopic sutures. At age 4 1/2 years, she presented with mental retardation, microcephaly, asymmetrical mongoloid slanting of narrow palpebral fissures, bilateral epicanthic folds, broad and prominent nasal bridge, normal sized ears and open mouth. She had somewhat short second and fifth fingers, with a single crease on the right fifth finger and normal thumbs. This case supports previous reports that a clinically recognizable ring chromosome 13 syndrome can be defined.
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PMID:Ring chromosome 13 syndrome. 113 90

We encountered a 65-year-old female with hypertrophic obstructive cardiomyopathy and mitral valve prolapse who had infective endocarditis and hemolytic anemia. The infecting organism of endocarditis was group A streptococci. With regard to the etiology of the hemolytic anemia, fragmentation hemolysis was considered because fragmented red cells and elevated lactic dehydrogenase were observed. Haptoglobin was markedly decreased. Coombs' test, Ham's test and abnormal hemoglobin were negative. She had not had a hemolytic attack in the past. Ultrasonic cardiography showed asymmetrical septal hypertrophy, mitral valve prolapse and 285 mmHg of calculated pressure gradient in the left ventricle. Cardiac catheterization showed 115 mmHg of left intraventricular pressure gradient and mitral regurgitation (grade 2). Hemolysis was slightly improved after treatment with propranolol. Thus, fragmentation of the normal red cells seemed to be due to shear stress.
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PMID:Fragmentation hemolysis in a patient with hypertrophic obstructive cardiomyopathy and mitral valve prolapse. 140 52

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 53 year old woman presented, one month after an anicteric leptospirosis, an acute, asymmetrical, sensorimotor polyneuropathy involving the lower limbs. Electrophysiological study showed evidence of severe denervation, with normal motor nerve conduction velocities, indicating an axonal degeneration. Neuro-muscular biopsy showed signs of wallerian degeneration and perivascular infiltrates of epineural vessels. She received a corticosteroid therapy during 6 months and there was a nearly complete clinical recovery.
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PMID:[Acute and reversible axonal polyneuropathy in post-leptospirosis]. 255 74

A 57-year-old female was admitted to our hospital with general lassitude, loss of appetite, nausea, upper abdominal pain, thirst, polydipsia and polyuria. On admission, she had an asymmetrical pear-shaped tumor in the right supraclavicular region and severe hypercalcemia. Plasma C-PTH was elevated to 22.72ng/ml. Plasma calcitonin was also elevated to 336 pg/ml. She died of respiratory and cardiac failure of two weeks after admission without any positive response to the treatment, including hemodialysis. Pathohistologically, the tumor was a parathyroid adenoma. The concentrations of C-PTH, intact PTH and calcitonin in the tumor tissue were markedly high: 4.56 micrograms/g wet, 13.9 ng/g wet and 50.7 ng/g wet, respectively. Immunohistologically, the tumor cells and the fibrous stroma were stained strongly positive to rabbit anti-human calcitonin antibody and rabbit anti-human N-PTH antibody by indirect immunoperoxidase staining. Calcitonin-producing tumors, except for medullary thyroid carcinoma are rarely reported. To our knowledge, this is the first report of such a calcitonin-producing parathyroid adenoma associated with primary hyperparathyroidism.
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PMID:A case of calcitonin-producing parathyroid adenoma with primary hyperparathyroidism. 258 94

Two patients with cervical diastematomyelia are reported here. A nineteen year-old-man (patient 1) admitted to our hospital because of muscular weakness of right upper limb. He noted muscular atrophy of right upper limb at 16 years old, and then paresthesia was gradually aggravated in the ulnar side of the right hand. Physical examination showed muscular atrophy of right upper limb and hypesthesia in the right eight cervical and first thoracic dermatomes. The deep tendon reflexes were decreased in the right upper limb and were increased in the lower limb without pathological reflexes. In electromyographic examination, neurogenic motor units were observed in the upper right limb, dominantly in 1st interosseous muscle (between the fourth cervical and the first thoracic dermatome). Metrizamide computed tomographic (CT) myelography revealed sagittal splitting of the spinal cord from the third to the sixth cervical vertebra, producing two asymmetrical hemicords. A osseous or fibrous septum were not seen. The right hemicord was smaller than the left one. Patient 2 was a twenty-four-year-old woman. She visited our hospital because of muscular weakness of the right upper limb. In physical examination, there were the muscular atrophy of right hand and hypesthesia in the right eighth and first thoracic dermatomes. The deep tendon reflexes were decreased in the right upper limb and were increased in the right lower limb without pathological reflexes. The EMG studies revealed the neurogenic NMU in the right upper limb (between the fourth cervical and the first thoracic dermatome). Magnetic resonance imaging showed marked narrowing of the dural sac in flexion of the neck.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Two patients with cervical diastematomyelia]. 275 66

We report a case of a woman with L-Dopa resistant asymmetrical parkinsonism with a posterior fossa cyst compressing the lower brainstem on MR. She did not show improvement in any of her symptoms after cysto-cardiac derivation. It was not possible to delineate if this was a case of a new malformative syndrome or the coincidence of two different disorders.
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PMID:L-dopa resistant parkinsonism in an adult woman with a cyst in the posterior fossa. 750 37

An uncommon autopsy case involving Proteus syndrome with multiple hamartomatous lesions in a 52 year old woman is reported. At birth, hemihypertrophy was noted on the right side of the face. Leiomyoma of the urinary bladder was extirpated at 37 years of age. She died of sepsis due to a brain abscess. At autopsy, diffuse asymmetrical lipomatosis was noted on the right side of the face, scalp, lip, oral mucosa, tongue and on the left side of the cerebellar peduncle. Multiple meningiomas, cavernous hemangiomas and osseous hypertrophy overlapped in the intracranial regions. The present case is considered as a regional type of Proteus syndrome displaying a somatic mosaicism.
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PMID:Regional Proteus syndrome: report of an autopsy case. 755 Oct 15

The authors report the case of a 49-year-old woman with an asymmetrical, seronegative and peripheral polyarthritis with erosions, who subsequently developed Crohn's disease. She was diagnosed as having an erosive Crohn polyarthritis as no evidence of rheumatoid arthritis was found. However, the patient was homozygote for DR4 and the HLA DRB1 oligotyping was 0401/0404. This corresponds to two susceptibility alleles for rheumatoid arthritis responsible for the severity of this disease. Erosive polyarthritis is rarely encountered in inflammatory bowel diseases. The underlying mechanism of the erosions in these conditions is unknown but granulomatous synovitis with contiguous erosive bone changes has been reported. HLA DR has not been previously reported in erosive Crohn polyarthritis. The homozygosity for DR4 with DRB1*0401/0404 subtypes suggests that DR4 could contribute to the erosive course in this patient. This question is of interest, and HLA DR must be further studied in inflammatory bowel diseases with erosive arthritic manifestations.
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PMID:Erosive polyarthritis and Crohn's disease. A case with HLA DRB1 determination. 765 74

We report an 80-year-old woman with hemichorea probably due to amantadine hydrochloride. She visited our hospital because of gait disturbance and decreased mental activity. She was diagnosed as multiple cerebral infarctions and treated with 100 mg/day of amantadine hydrochloride. After two weeks she showed choreic movement of the face and right arm and leg. Haloperidol was administered and her choreic movement disappeared. Brain MRI showed multiple cerebral infarctions in the white matter. There was no lesion in the left basal ganglia. SPECT showed hyperperfusion in the left basal ganglia when choreic movement appeared. After choreic movement disappeared, SPECT showed no asymmetrical blood flow. These findings suggest hemichorea was related to hyperfunction of dopaminergic neurons in the left basal ganglia.
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PMID:[A case of multiple cerebral infarctions associated with hemichorea induced by amantadine hydrochloride]. 802 37


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