Search PubMed⌕ Search

Biomedical subjects

M Sadeh

Publications and source records attributed to M Sadeh.

At least 55 records · Page 3Linked to original sources
PubMed1996

Vincristine treatment triggering the expression of asymptomatic Charcot-Marie-Tooth disease.

A 16-year-old male suffering from Ewing's sarcoma of the pelvis was treated with vincristine as part of his chemotherapeutic protocol. The boy was never known to suffer from any neurological problems. His father had a mild limp, attributed to prolonged "taxi driving," that was never investigated medically. The first course of treatment, which included 2 mg of vincristine, resulted in clinical improvement. However, at the same time the patient developed severe weakness of both upper and lower limbs, areflexia, and gradually a pes cavus deformity. Nerve conduction studies were suggestive of severe peripheral sensorimotor neuropathy, axonal and demyelinative. A definite diagnosis of Charcot-Marie-Tooth was confirmed by molecular analysis showing the typical duplication of 1.5 megabases at 17 p11.2. This unique manifestation of vincristine neurotoxicity is reported and discussed.

Adolescent↗
PubMed1996

A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease.

A novel T-->G mutation in exon 4 of the PMP22 gene was identified heterozygously in a girl with severe, de novo CMT1A disease. Duplication of the chromosomal 17p11-12 region, encompassing the PMP22 gene, was ruled out. This is the only known mutation that specifically affects the human fourth transmembrane (TM) domain of PMP22. It results in a substitution of a non-polar amino acid by a polar one (Leu147-->Arg), similar to the nearby Gly150-->Asp substitution, underlying the severe Trembler phenotype in the mouse. These mutations suggest that the fourth TM domain plays a crucial role in the normal function of PMP22. The new mutation also augments previous observations that diseases caused by mutations in PMP22 are more severe than those caused by the duplication of 17p11-12.

Amino Acid Sequence↗
PubMed1996

Congenital visual agnosia and prosopagnosia in a child: a case report.

We present an eight years old child, L.G. with congenital agnosia and prosopagnosia. This is a special case of perceptual deficits in a child which are discrete and exist in the context of a very high verbal intelligence. L.G. was administered an extensive battery of tests of cognitive functioning. He has intact basic visual skills, although his visual analysis is sometimes slow. L.G. can read, write and do math at age level or above. Four normal eight years old boys were used as controls on a selection of the perceptual tests, administered to L.G., which did not have normative data. L.G.'s object recognition skills bear the hallmarks of adult apperceptive agnosia. His visual memory and imagery are normal. Tests of face processing skills reveal, unlike adult prosopagnosics, severe deficits in addition to the familiar face recognition problem. L.G.'s agnosia and prosopagnosia are compared to the relevant literature.

Agnosia↗
PubMed1996

Intranuclear inclusions in oculopharyngeal muscular dystrophy among Bukhara Jews.

We studied, by electron microscopy, muscle biopsies from seven patients with autosomal dominant oculopharyngeal muscular dystrophy (OPMD) belonging to the recently described Bukhara-Jewish cluster. Typical tubulofilamentous intranuclear inclusions (INI) of 8.5 nm outer diameter were present in all cases. The INI were observed in 4.5 +/- 1.8% of the nuclei in five patients. In the other two, they occurred in 9.5 +/- 0.5% of the nuclei and often occupied a larger nuclear area. These two patients, offspring of intermarriage between affected cousins, had an unusually severe form of OPMD beginning in their early 30s, suggesting homozygote state. Our results confirm that INI are pathognomonic for OPMD and suggest that their frequency may be quantitatively related to the number of abnormal DNA copies.

Adult↗
PubMed1995

[Oculopharyngeal muscular dystrophy with dysphagia in a Jewess from Uzbekistan].

An 82-year-old Jewish woman from Tashkent, Uzbekistan was hospitalized because of dysphagia and weight loss. Physical examination revealed bilateral ptosis. The diagnosis of the rare inherited disease oculopharyngeal muscular dystrophy was confirmed by electron microscopy of biopsied muscle. It has recently been found that the prevalence of the disease among Jews from Uzbekistan is very high. It should therefore be considered when such patients present with dysphagia, so invasive imaging procedures can be avoided.

Aged↗
PubMed1995

Cerebral calcinosis and learning disabilities in hypoparathyroidism: a cause and effect or a coincidence?

A 12-year-old child is described in whom the presentation of learning difficulties and history of previous cataract removal led to a diagnosis of primary hypoparathyroidism. Cranial computed tomography revealed extensive calcinosis, previously described only in adults with long-standing hypoparathyroidism, and neuropsychologic evaluation revealed a marked symmetrical decrease in intellectual function. The possibility of the severe complication of brain calcinosis necessitates prompt diagnosis and treatment of hypoparathyroidism.

Brain Diseases↗
PubMed1994

Stress and epilepsy: the Gulf war experience.

Stress is commonly believed to precipitate seizures in some patients with epilepsy, but direct examination of this assumption is problematic because of the difficulty in defining vague factors such as 'emotional stress'. Using a questionnaire, we have recorded seizure frequency during the 1991 Persian Gulf war, when Israelis were under stress from the threat of Scud missile attacks, in 100 consecutive adult patients with epilepsy. Increased frequency of seizures was reported by eight patients. These were younger than the other patients, the majority showed generalized epileptic EEG activity and all had generalized seizures (secondarily generalized in four). Only four had seizures directly related to the sounding of an alarm and in the others, non-compliance, being off medication at the time and disturbed sleep were probable contributory factors. We conclude that, in this series, epilepsy control was only weakly affected by an acute external emotional stress factor.

Adolescent↗
PubMed1993

Single fiber EMG in a congenital myasthenic syndrome associated with facial malformations.

Six patients with a newly described genetic syndrome in Iraqi and Iranian Jews of congenital myasthenia associated with facial malformations were studied with voluntary and stimulation single fiber EMG (SFEMG). Voluntary SFEMG revealed abnormal jitter in all patients in both extensor digitorum communis (EDC) and orbicularis oculi (OOC) muscles, though much smaller in the clinically unaffected EDC. SFEMG study of OOC muscle by axonal stimulation at rates from 1 to 48 Hz showed the most increased jitter at the highest stimulation frequencies in the majority of end-plates, one-third of which showed maximal jitter at intermediate rates. These results may suggest a postsynaptic abnormality as the underlying cause for the neuromuscular transmission defect, and demonstrate the usefulness of SFEMG in the diagnosis of congenital myasthenia.

Adolescent↗
PubMed1993

Vacuolar myopathy sparing the quadriceps.

Twenty-two Jewish patients, belonging to 15 families, 11 of them from Iran and three possibly of Iranian stock, suffered from progressive muscle weakness and wasting. The initial symptom was usually distal leg muscle weakness, appearing in the third or fourth decade and insidiously involving the proximal muscles and to a lesser extent the upper limbs. The quadriceps muscle was consistently spared even in advanced cases. Computerized tomography (CT) scans of muscles demonstrated variable wasting and fatty replacement of limb and axial muscles, while the vastus lateralis muscle retained its normal CT appearance. The typical light microscopy features of the affected muscles were: presence of vacuoles within muscle fibres, internal nuclei, longitudinal fibre splitting and, in severely affected muscles, endomysial fibrosis without, inflammation or fibre necrosis. Electron microscopy suggested that the vacuoles were autophagic. Cytoplasmic and intranuclear inclusions were rare. While electromyography (EMG) revealed presence of spontaneous activity, however, analysis of muscle action potentials, turns-amplitude ratio, macro-EMG and single fibre EMG suggested a primary myopathic disorder. Consanguinity in seven families, the parents being first cousins, and the presence of additional affected siblings of both sexes may suggest an autosomal recessive trait. The presence of this disorder in Iranian Jews may indicate that this is a distinct myopathic entity.

Action Potentials↗
PubMed1993

Extrapyramidal syndrome responsive to dopaminergic treatment following recovery from central pontine myelinolysis.

A 52-year-old woman developed severe hyponatremia following treatment for hypertension with chlorthalidone. Rapid correction of hyponatremia resulted in coma, quadriplegia and hypopnea compatible with central pontine myelinolysis. She recovered with residual facial hypomimia, bradykinesia, cogwheel rigidity and coarse resting tremor, responding to dopaminergic treatment. Her symptoms and signs, which are quite similar to idiopathic Parkinson's disease, are still responsive to treatment 7 years after onset.

Basal Ganglia Diseases↗
PubMed1992

Adult metachromatic leukodystrophy with an unusual relapsing-remitting course.

A 46 year old woman had a relapsing-remitting course of hemiparesis, disorientation, paraparesis and seizures, followed by progressive dementia, spasticity and ataxia. Computed tomography at onset showed a parietotemporal hypodense area with diffuse mottled enhancement obliterating the lateral ventricle. Subsequent scans demonstrated symmetric periventricular non-enhancing hypodensities, progressive ventricular enlargement and atrophy. Adult metachromatic leukodystrophy was diagnosed on the basis of low leukocyte arylsulphatase A level and metachromatic material accumulation at neural nerve biopsy.

Brain↗
PubMed1991

Vascular insufficiency quantitatively aggravates diabetic neuropathy.

The effect of lower-limb ischemia on the severity of neuropathy was examined in 48 diabetic patients with peripheral vascular disease. The severity of the vascular disease, as determined by medical history, physical findings, and laboratory data, was scored for each leg. Neuropathy was rated clinically and based on the results of nerve conduction studies of the common peroneal, posterior tibial, and sural nerves. A significant correlation was found between the vascular scores and neurologic variables of the two legs, most strikingly so in electrophysiologic data, with coefficients of .6 to .7. Nondiabetic control patients showed no evidence of neuropathy, regardless of the severity of ischemia, whereas diabetic controls without limb ischemia showed symmetrical neuropathy. These findings support the hypoxic theory in the pathogenesis of diabetic neuropathy.

Adult↗
PubMed1991

Mitochondrial abnormalities in oculopharyngeal muscular dystrophy.

A family with oculopharyngeal muscular dystrophy (OPMD) is described. Histological and histochemical studies of muscle biopsy showed nonspecific myopathic changes; no "ragged-red" fibers were seen. Electron microscopy demonstrated bizarre large mitochondria with abnormal cristae, but no intranuclear inclusion bodies. Our findings are compatible with the possibility that OPMD is a heterogeneous syndrome, and may be a manifestation of mitochondrial myopathy.

Aged↗
PubMed1991

Spinal intradural arachnoid cysts.

Three patients with indural spinal arachnoid cysts presented with back or neck pain of several months' duration. They gradually developed weakness and difficulty in walking followed by rapid deterioration with signs of spinal cord or nerve root compression. Radiological studies showed a posteriorly located mass in the cervical, dorsal and lumbar region; one cyst filled with contrast medium and the diagnosis of the others was made at operation. Surgery resulted in full recovery of two patients and partial recovery of the third.

Adolescent↗
PubMed1991

Extracranial metastases of medulloblastoma in adults: literature review.

A consecutive series of 30 cases of extracranial medulloblastoma metastases in adults is analysed. The majority of the patients were males with a 3:1 male/female ratio. Bone was the most frequent site of metastases in adults (77%) and children (78%), followed by lymph nodes (33%) in both children and adults. Lung metastases were more common in adults (17%), but liver metastases occurred more frequently in children (15%). Possible routes of spread and development of metastases are discussed, with special emphasis on the role of shunts in tumour seeding. Distant extracranial metastatic spread of medulloblastoma occurs at the rate of 7.1%. Mean interval between operation of the primary tumour and the discovery of metastases was shorter in children (20 months) than in adults (36 months). Survival after the discovery of metastases was also shorter in children (5 months) than in adults (9.5 months). Shunts were associated with an earlier appearance of metastases and with a poorer prognosis. A detailed review of the literature of 119 cases of medulloblastoma with extracranial metastases is provided.

Adult↗