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Biomedical subjects

N Gadoth

Publications and source records attributed to N Gadoth.

At least 37 records · Page 2Linked to original sources
PubMed1994

Myotonic dystrophy gene analysis in affected Israeli families.

Myotonic dystrophy (DM) is an autosomal dominant disease with an estimated incidence of 1:7,500 individuals. The clinical manifestations are variable and include muscle wasting and weakness, myotonia, intellectual impairment, cardiac abnormalities, cataracts, and testicular atrophy. Despite its phenotypic variability, the disease is genetically homogeneous, and a specific molecular defect has been located to chromosome 19q13.3 and found to be associated with the expansion and instability of trinucleotide (CTG) repeats. Whereas normal individuals have 5-36 CTG repeats, affected individuals have 50 to several thousands. Therefore, DM can now be diagnosed accurately using molecular biology techniques that allow detailed analysis and determination of the size of DNA in the unstable DM gene region. In this way even mildly affected patients can be identified. We used this method to study the DM gene in 11 affected Israeli families (39 individuals). In most of the families, the unstable DNA sequence increased in size when transmitted to offspring. In one of the families we found contraction of the CTG repeat in a DM offspring of an affected male; and in another family a CTG repeat contraction occurred in three offspring of an affected female while in the fourth offspring there was CTG expansion. Southern blot analysis using BglI restriction provided the most accurate technical results. There was an obvious phenotype/genotype correlation between the size of the CTG repeat and severity of disease.

Adolescent↗
PubMed1993

3-Methylglutaconic aciduria in "optic atrophy plus".

Behr's syndrome consists of recessively inherited infantile optic atrophy, together with chronic neurological disturbances such as ataxia, extrapyramidal dysfunction, and juvenile spastic paresis. This syndrome was found to be relatively common among Iraqi Jews. For our study, 18 such patients underwent metabolic study. All 18 showed abnormally elevated excretion of 3-methylglutaconic acid in their urine. The basic enzymatic defect is as yet unknown. We recommend that patients with early optic atrophy, and especially those with motor dysfunction, be examined for this organic aciduria.

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

Brain imaging in late-onset GM2 gangliosidosis.

We describe brain CT and MRI characteristics of 10 patients with late-onset GM2 gangliosidosis. Cerebellar atrophy, particularly of the vermis, was a prominent feature in all patients with normal-appearing cerebral hemispheres. The severity of these findings did not correlate with the age of onset, disease duration, severity of neurologic impairment, or mode and distribution of the various clinical presentations. In particular, no cerebral abnormality was found by neuroimaging in seven patients with intellectual decline and in six patients with recurrent psychosis, while prominent cerebellar atrophy was present in the only patient who was free of cerebellar signs.

Adult↗
PubMed1992

Dental and oral findings in patients with familial dysautonomia.

Familial dysautonomia is an inherited autosomal recessive disease found almost exclusively in Ashkenazi Jews. It is characterized by selective damage to the sensory, motor, and autonomic peripheral nervous system. The main clinical features include decreased pain sensation, impaired temperature and blood pressure regulation, lack of tearing, absent tendon reflexes, and fungiform papillae on the tongue. The purpose of this study was to explore in depth and to verify the oral and dental status in familial dysautonomia. Twenty-two patients and 44 match-paired healthy persons of Ashkenazi descent were examined. Patients and parents had only little concern for their oral condition. Caries prevalence was lower than normal and plaque accumulation increased in all patients. Dental trauma was found in 59% of the patients, and 32% showed orodental self-mutilation. Dental age was within normal range, and dental arch measurements implied proportionally small jaws and little crowding. The low caries rate may be related to the known "hypersalivation" in familial dysautonomia and/or a possible change in the salivary composition and content, caused by chronic autonomic denervation.

Adolescent↗
PubMed1991

The prognostic significance of glial fibrillary acidic protein staining in medulloblastoma.

Histologic and immunohistochemical properties of 53 medulloblastomas were analyzed with regard to clinical features and survival rate. No correlation was found between survival rate and histologic features of the tumor, such as desmoplastic reaction, number of mitoses, hemorrhages, necrosis, endothelial proliferation, glomerular arrangement, calcifications, rosettes, or oligodendroglial cells. However 82% of the patients with positive glial fibrillary acidic protein (GFAP) staining in numerous tumor cells survived more than 5 years; only 30% survived that long if their tumor cells were GFAP negative (P = 0.0093). This significant difference was not related to the mode of therapeutic protocol used. The authors suggest that GFAP staining may be a useful prognostic tool in medulloblastoma.

Adolescent↗
PubMed1991

The value of sleep recording in evaluating somnambulism in young adults.

Somnambulism (SOM) is a benign childhood sleep disorder which may persist until young adulthood. The diagnosis relies heavily on the history, and no polysomnographic (PSG) criteria have yet been defined. The present study attempts to evaluate the role of whole-night polysomnographic recording in the investigation of SOM. The PSG records of 24 sleepwalkers, 18-25 years old, and 12 age-matched controls, were analysed. Sleepwalkers had remarkably more epochs containing hypersynchronous delta waves (HSD) (59.6 +/- 60.1 vs. 1.7 +/- 3.2; P less than 0.0001), a higher proportion of HSD/total time spent in stage 3-4 (24.9 +/- 21.1% vs. 1.1 +/- 2.0%, P less than 0.0002), and more stage 3-4 sleep interruptions (8.4 +/- 5.7 vs. 3.7 +/- 1.7, P less than 0.004). They also tended to have a larger proportion of their sleep time in stage 3-4 (30.6 +/- 11.7% vs. 22.6 +/- 6.8%; P less than 0.07). Although their sensitivity and specificity have yet to be more fully investigated, these seem to be quantitative, easy-to-use variables which may characterize adult SOM and may aid in its proper diagnosis.

Adolescent↗
PubMed1991

Three modality evoked potentials in Charcot-Marie-Tooth disease (HMSN-1).

Sixteen patients with dominant hereditary motor-sensory neuropathy type I (HMSN I), members of 5 families, underwent trimodality evoked potential studies. All patients had clinically normal optic nerves. History of deafness was present in 3 patients and sensory-neural hearing defect was found in 5 of 7 patients in whom audiometry was obtained. In 43.7 percent of the subjects significant prolongation of P100 of the VEP was found. Prolongation of N19 of the SEP was found in all 12 subjects examined. Significant bilateral prolongation of peak I of the ABEP was found in 37.5 percent of the subjects and in 50 percent of the ears examined: these findings indicated that in addition to peripheral nerves, the myelin of the optic and cochlear nerves is also affected in HMSN type I.

Adolescent↗
PubMed1991

Short pancreas in polysplenia syndrome.

Two cases with the polysplenia syndrome also had a short pancreas. To the best of our knowledge the radiologic characteristics of this anatomic anomaly have not yet been reported. Both cases were asymptomatic with regard to their anomaly-complex. The radiologic findings of the short "pancreas" are similar to the only pathologic description of this association. The awareness of this association led to the diagnosis of the second case after a few months only. A physician performing ERCP in the polysplenia syndrome should keep in mind the possible presence of the "short pancreas" when the whole length of the pancreatic duct is not visualized.

Abnormalities, Multiple↗
PubMed1990

[Malignant angioendotheliomatosis].

Malignant angioendotheliomatosis is one of the terms used to describe the appearance of neoplastic cells resembling endothelium within the lumen of small and medium-sized blood vessels, mainly in the cerebral and meningeal vascular beds. A fatal systemic disease with dementia as the leading neurological manifestation may be associated with these pathological findings. Only recently has it become evident that this disease is a unique intravascular form of large cell lymphoma, affecting mainly the cerebral blood vessels but also present in the lumen of many small and medium-sized blood vessels in the systemic circulation.

Blood Vessels↗
PubMed1990

[The diagnostic value of CT and MRI studies in brain-stem tumors].

The combination of lower cranial nerve palsy and contralateral motor impairment, presenting subacutely and following a progressive course in a child or young adult, suggests the possibility of brain-stem tumor. However, if the CT scan is normal, the diagnosis of multiple sclerosis or a vasculitis is frequently considered. Since CT scans may miss lower brain-stem tumors, MRI is recommended as the definitive diagnostic test in such cases.

Brain Neoplasms↗