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Biomedical subjects

N Gadoth

Publications and source records attributed to N Gadoth.

At least 73 records · Page 4Linked to original sources
PubMed1995

Muscle computed tomography features of motor neuron disease in late-onset GM2 gangliosidosis.

Late-onset GM2 gangliosidosis, a rare inherited neuronal storage disease, is characterized by a variety of clinical manifestations. The common clinical picture comprises neuromuscular, spinocerebellar, extrapyramidal, cognitive, and psychiatric abnormalities. Details of the extent of muscle involvement have never been reported. Eight patients with this syndrome were evaluated for the existence and extent of motor neuron disease using routine electrodiagnosis and systematic evaluation of skeletal musculature by computed tomography. Motor neuron disease was present in each and every patient regardless of the clinical manifestations and to a degree beyond that suspected on neurological examination. Muscle imaging disclosed a diffuse wasting and fatty replacement of muscles with predilection of pelvic and thigh muscles, and especially the quadriceps group. It seems that progressive motor disability in this syndrome is mainly due to motor neuron disease, as manifested by muscle atrophy, which can be easily demonstrated by muscle computed tomography.

Adipose Tissue↗
PubMed1995

Progressive spinocerebellar degeneration "plus" associated with Langerhans cell histiocytosis: a new paraneoplastic syndrome?

Langerhans cell histiocytosis (LCH), formerly known as histiocytosis-X, manifests by granulomatous lesions consisting of mixed histiocytic and eosinophilic cells. The hallmark of LCH invasion into the CNS is diabetes insipidus, reflecting local infiltration of Langerhans cells into the posterior pituitary or hypothalumus. In five patients who had early onset LCH with no evidence of direct invasion into the CNS, slowly progressive spinocerebellar degeneration accompanied in some by pseudobulbar palsy and intellectual decline was seen. Neurological impairment started 2.5 to seven years after the detection of LCH. No correlation was found between the clinical syndrome and location of LCH or its mode of treatment. An extensive search for metabolic, toxic, neoplastic, and hereditary aetiologies for progressive cerebellar degeneration was negative. It seems that the clinical entity described here may be considered a new paraneoplastic syndrome related to LCH. It may be induced by the eosinophil derived neurotoxin, which was shown to cause damage to Purkinje cells and pyramidal neurons.

Adult↗
PubMed1994

Oro-dental self-mutilation in familial dysautonomia.

Orodental self-mutilation (ODSM) has not gained sufficient recognition in familial dysautonomia (FD). Among 38 patients with FD, ODSM was found in 14 (36.8%). ODSM may be due to peripheral neuropathy with insensibility to pain, which is characteristic of FD. Elimination of the sharp edges of teeth was found to be helpful.

Adolescent↗
PubMed1994

Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome.

Three sibs born to consanguineous parents had congenital nephrotic syndrome, microcephaly, and psychomotor retardation. Pathology of the kidneys showed diffuse mesangial sclerosis with deposits of IgG and C3 in the mesangium and glomerular basement membranes. All three children died before the age of 3 years. Of 19 published cases of children with the association of congenital nephrotic syndrome and microcephaly, only four had histological evidence of diffuse mesangial sclerosis, and two of their sibs probably had the same disease. The association of nephrotic syndrome owing to congenital diffuse mesangial sclerosis, microcephaly, and mental retardation appears to be a distinct syndrome with an autosomal recessive mode of inheritance.

Abnormalities, Multiple↗
PubMed1994

Machado-Joseph (Azorean) disease in a Yemenite Jewish family in Israel.

Machado-Joseph disease (MJD), an autosomal dominant, progressive, multisystem degeneration with cerebellar ataxia as the cardinal manifestation, usually affects individuals of Portuguese ancestry from the Azorean Islands. Cases have been reported in families from Japan, India, China, Brazil, and Australia. We report the first Israeli Jewish family with MJD, originating from a remote village near Ta'izz in Yemen.

Adult↗
PubMed1994

Hormone receptors in initially excised versus recurrent intracranial meningiomas.

Intracranial meningiomas from 51 surgical patients consecutively treated during an 18-month period were evaluated for the presence of receptors to progesterone and estrogen. Thirty-eight patients underwent initial resection during this time and 13 underwent reoperation for recurrent disease. With positivity defined as receptor levels greater than 10 fmol/mg of cytosol protein, 84% of all the meningiomas were positive for progesterone receptors, whereas only 33% were positive for estrogen receptors. Among the recurrent meningiomas, 92% showed evidence of progesterone receptors and 54% of estrogen receptors; these figures were not significantly different from the corresponding incidence of 82% and 26%, respectively, among the initially excised tumors. However, the mean concentration of progesterone receptors in the recurrent tumor group was significantly higher when compared to the concentration in the initially excised group (p < 0.02). Twenty meningiomas (39%) were considered to be radiation-induced, since they were removed from patients who had received scalp irradiation during childhood. The incidence and concentration of receptors in the radiation-induced tumors were generally comparable to those in the spontaneous meningiomas. This study confirms previous reports of a high incidence of hormone receptors, mainly for progesterone, in meningiomas. In addition, it shows that in recurrent meningiomas these receptors persist and even increase. The results therefore support hormone treatment for nonresectable meningiomas, especially at recurrence.

Adult↗
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↗