Biomedical subjects
N Gadoth
Publications and source records attributed to N Gadoth.
Hypothyroidism and phenytoin intoxication.
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Sea-blue histiocytes in canine ceroid-lipofuscinosis (CCL).
Cells corresponding to sea-blue histiocytes are described in bone marrow aspirates from dogs suffering hereditary ceroid-lipofuscinosis. Sea-blue histiocytes also occur in humans with so-called neuronal ceroid-lipofuscinosis and both exhibit strong autofluorescence. By quantitative fluorometric techniques, each species have similar spectral characteristics and, thus, the English setter with CCL can serve as a useful animal model.
Tay-Sachs disease in an Arab child.
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Retinitis pigmentosa and early onset myopathy: a case report.
Retinitis pigmentosa (RP) and primary muscle disease are both relatively rare inherited disorders. We present a patient in whom both conditions coexisted. The possibility of a genetic association between RP and primary muscle disorder is discussed. It is our belief that this extremely rare association is merely coincidental.
Computed tomography of renal agenesis and ectopy.
The position and shape of the organs normally adjacent to the kidney were evaluated by computed tomography in seven patients with renal agenesis and in two patients with unilateral renal ectopy. The major findings were displacement of colonic flexures, small intestine loops, duodenum, spleen, and tail of the pancreas. The shape and position of the adrenal gland was found abnormal in cases with left-sided anomaly. Genital abnormalities such as absent seminal vesicle were frequently encountered. The presence of abnormally shaped adrenal glands in patients with left renal agenesis and ectopy is a new diagnostic radiologic sign for these conditions.
Positional relations of colon and kidney determined by perirenal fat.
The anatomic relations of the colon in regard to the kidney at three levels were studied with CT in 70 male and 70 female patients in various age groups. The study was initiated when two patients with large left-kidney masses had an unusual posterior location of the colon. Considering the increase in percutaneous uroradiologic invasive procedures, it was believed that such a study was needed. It was shown that the colon has a tendency to be displaced anteriorly to the kidney in elderly men, whereas it is laterally located in females of all ages. An outstanding and unique finding was the excessive accumulation of perinephric fat in males and its quite total absence in females. It is suggested that this gender-related peculiar fat distribution might explain the anterior displacement of the colon in males.
1H and 31P nuclear magnetic resonance spectroscopy of erythrocyte extracts in myotonic muscular dystrophy.
Extracts freshly prepared from erythrocytes of patients with myotonic muscular dystrophy, their unaffected siblings, and normal control subjects were examined with both 1H and 31P nuclear magnetic resonance spectroscopy. A moderate variability was found in the relative amounts of various nonphosphorylated compounds among patients and control subjects; however, no significant differences were found between the groups. As for the phosphorylated compounds, the sum of ADP + ATP was found significantly elevated in the myotonic muscular dystrophy patients.
Sleep structure and nocturnal disordered breathing in familial dysautonomia.
In 13 patients with familial dysautonomia sleep recordings were obtained to investigate the possibility that autonomic nervous system dysfunction plays a role in disordered breathing during sleep. Sleep structure in some of our patients was abnormal, showing decreased amount of REM sleep and increased REM latencies. All patients showed breathing disorders in sleep. The average number of apneic spells was 73.4 per night; 77% of the patients had more than 50 apneic spells per night. Abnormal breathing patterns were not uniform and were independent of patient's primary complaints. Typically, even severe respiratory irregularities were not associated with the usual cardiac response, indicating that our patients had "cardiac dysautonomia".
Cell mediated immunity and effects of "thymic humoral factor" in 15 patients with SSPE.
Cell mediated immunity (CMI) in 15 patients with subacute sclerosing panencephalitis (SSPE) was assessed by E-rosette formation, leucocyte migration inhibition factor (LIF) production, and proliferative responses to mitogens. In eleven patients, one or more of these parameters were impaired. These defects varied among the different patients and no consistent or uniform pattern of immune deficiency could be demonstrated. Although no single patient had a generalized reduction of all the T-cell functions, a diminished percentage of E-rosetting cells was the most frequent abnormal parameter (7 out of 15 patients). There was no correlation between the clinical state of the patients and the immune defects. Thymic humoral factor (THF), a thymic hormone, reconstituted at least one CMI impaired function especially the reduced levels of E-rosette forming cells in 7 out of 9 patients. It seems unlikely that a generalized cell-mediated defect is the underlying cause of this disease, but immunomodulatory therapy should be considered in some selected cases.
Congenital sensorineural deafness associated with EEG abnormalities, epilepsy and high familial incidence.
A clinical study was carried out on 31 deaf children attending a school for the deaf in Beer Sheva, Israel. 71 per cent of the pupils were found to have familial deafness. EEG studies showed a high rate of abnormal tracings associated with congenital sensorineural deafness. A significant number of EEGs were paroxysmal. The majority of cases occurred among children with hereditary deafness. Behaviour disturbances were common among the children with abnormal EEGs. One-third of the pupils had additional congenital defects, including three cases of retinitis pigmentosa. Four children (12 X 9 per cent) had epilepsy; two cases of petit mal were of special interest. Hereditary aspects of congenital nerve deafness and the implications of the EEG findings are discussed.
Involvement of dorsal root ganglia in Fabry's disease.
Bouts of shooting pain along the extremities are common in the early stages of Fabry's disease. No pathological explanation has been advanced to clarify the mechanism of such pain. In the present case neuronal storage of glycolipid was confined to dorsal root ganglia neurones only. It is suggested that this may explain the shooting pain in Fabry's disease. In hereditary sensory radicular neuropathy, familial dysautonomia, and tabes dorsalis, changes in dorsal root ganglia cells cause similar clinical signs and thus it may be concluded that shooting pains in Fabry's disease may be caused by damage to dorsal root ganglia neurones.
Fatty replacement of lower paraspinal muscles: normal and neuromuscular disorders.
The physiologic replacement of the lower paraspinal muscles by fat was evaluated in 157 patients undergoing computed tomography for reasons unrelated to abnormalities of the locomotor system. Five patients with neuromuscular disorders were similarly evaluated. The changes were graded according to severity at three spinal levels: lower thoracic-upper lumbar, midlumbar, and lumbosacral. The results were analyzed in relation to age and gender. It was found that fatty replacement of paraspinal muscles is a normal age-progressive phenomenon most prominent in females. It progresses down the spine, being most advanced in the lumbosacral region. The severest changes in the five patients with neuromuscular disorders (three with poliomyelitis and two with progressive muscular dystrophy) consisted of complete muscle group replacement by fat. In postpoliomyelitis atrophy, the distribution was typically asymmetric and sometimes lacked clinical correlation. In muscular dystrophy, fatty replacement was symmetric, showing relative sparing of the psoas and multifidus muscles. In patients with neuromuscular diseases, computed tomography of muscles may be helpful in planning a better rehabilitation regimen.
Radiological case of the month. Leptomeningeal cyst after skull fracture.
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The pupil cycle time in familial dysautonomia. Further evidence for denervation hypersensitivity.
The pupil cycle time (PCT) was prolonged in 11 subjects with familial dysautonomia. In the younger age group (10-19 years), mean PCT was 872 +/- 88 msec as compared to 15 normal age matched controls (728 +/- 88). In the 3 oldest patients (30-39 years) mean PCT was 980 +/- 133 msec as compared to 13 age matched normals (748 +/- 56). It is proposed that prolongation of PCT in familial dysautonomia may be due to functional denervation of the iris or that it is a result of a structural abnormality of its musculature and/or its neuromuscular junctions.
[The many faces of childhood migraine].
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Neurological complications following rubella infection.
Neurological complications following rubella are only rarely encountered. However, in many cases severe neurological impairment may occur, leading to permanent disability. In a recent epidemic of rubella in Israel during the years 1978-1979, 20 patients with severe neurological complications have been seen. We report on 5 cases of which 3 are described in detail. Considering the efficacy of immunization against rubella, we suggest that in countries such as England and Israel in which periodic epidemics of rubella occur, a generalized plan of immunization should be undertaken during the first years of life. Such an approach will prevent the neurological complication of congenital, as well as acquired, rubella infection.
Normal intelligence in the Cornelia de Lange syndrome.
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