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Biomedical subjects

N Gadoth

Publications and source records attributed to N Gadoth.

At least 55 records · Page 3Linked to original sources
PubMed1997

Correlation between the incidence of myotonic dystrophy in different groups in Israel and the number of CTG trinucleotide repeats in the myotonin gene.

Myotonic dystrophy (DM) is associated with an increased number of CTG repeats in the 3' untranslated region of the myotonin gene. Because DM has been observed less frequently in Ashkenazic Jews and non-Jews than in North African and Yemenite Jews in Israel, a study of the CTG repeat polymorphism was undertaken in these four groups. Alleles from 126 unrelated healthy North African Jews, 103 Yemenite Jews, 103 Ashkenazic Jews, and 106 Israeli Moslem Arabs were studied by PCR analysis of the trinucleotide repeat in the DM gene, and the size distribution of the CTG repeat was determined. The alleles ranged in length from 5-28 repeats in the Yemenite Jews, 5-26 in Muslim Arabs and North African Jews, and 5-23 in the Ashkenazic Jews. North African and Yemenite Jews were found to have significantly more large repeats in the normal range than Ashkenazic Jews and Muslim Arabs (for over 18 repeats: 9.1% and 13%, respectively, compared to 2.4% and 3.3%, respectively; P < 0.0001). It is suggested that the more frequent occurrence of large CTG repeats in the normal range may represent a greater predisposition to DM.

Africa, Northern↗
PubMed1997

Taste and smell in familial dysautonomia.

Familial dysautonomia (FD) is one of the classic diseases characterised by taste and smell abnormalities. However, these typical features are based on data obtained from two separate crude studies published in 1964. In the present study psychophysical-cognitive and reflex-like facial-behavioral responses to taste and smell, in nine patients with FD and 15 healthy controls, were recorded. Five taste stimulants were presented to both study groups, while a selection of common household odors was used for FD patients only. The patients with FD showed a markedly higher incidence of recognition failures for salty, bitter, sweet, and water stimuli than the controls, but rate of recognition of sour stimuli was almost identical in the two groups. Estimates by the subjects on a hedonic scale of 0 to 10 and facial display in FD indicated a relatively normal sensitivity to sour stimuli and to a lesser extent to bitter stimuli. Water, sweet, and salty stimuli evoked non-discriminatory responses. These findings indicate specific dyageusia rather than general ageusia. Smell was found to be normal. In children with taste and smell impairment, a systematic evaluative approach may help in planning palatable diets for adequate and comfortable nutrition.

Adolescent↗
PubMed1997

The lower incidence of myotonic dystrophy in Ashkenazic Jews compared to North African Jews is associated with a significantly lower number of CTG trinucleotide repeats.

Myotonic dystrophy (DM) is associated with an increased number of CTG repeats in the 3' untranslated region of the myotonin gene. Because DM has been observed more frequently in North African Jews than in Ashkenazic Jews in Israel, a study of the CTG repeat polymorphism was undertaken in these 2 groups. Alleles from 70 unrelated North African subjects and 70 unrelated Ashkenazic subjects were studied by PCR analysis of the trinucleotide repeat in the DM gene to determine the ethnic distribution of the number of CTG repeats. The alleles ranged in length from 5 to 26 repeats in the North Africans and 5 to 23 in the Ashkenazim. As has been seen in other populations, none of the chromosomes had a 9-repeat length. North African Jews were found to have significantly more repeats in the normal range than Ashkenazim (for over 14 repeats: 34/140 compared to 7/140; p < 0.0001). It is suggested that this more frequent occurrence of a large number of CTG repeats in the normal range may represent a greater predisposition to DM.

Africa, Northern↗
PubMed1996

[Malignant epidural cord compression].

Malignant epidural spinal cord compression (MSCC) may appear in 5-10% of adults and 3-5% of children with active malignant disease. Early diagnosis and treatment are imperative to prevent irreversible neurological damage below the level of cord compression. Unfortunately such procedures are often subjected to patient and/or doctor delay, when the emergency nature of MSCC is not understood. 3 women and 2 men, aged 17-74, are described, who illustrate both the variability of the presentation of MSCC and of its clinical course, and also problems related to imaging studies necessary to reach appropriate therapeutic decisions. These cases should increase physicians' awareness of the necessity for its early diagnosis and treatment. In addition, it is suggested that a multidisciplinary team approach be followed when MSCC is suspected (in accord with flow chart in Hebrew text).

Adolescent↗
PubMed1996

A new autosomal recessive syndrome of pachygyria.

Pachygyria is a rare development disorder resulting from impaired neuronal migration. Usually, it is a sporadic phenomenon, but rare dominant or autosomal recessive syndromes are known. This report describes a family in which the parents are first cousins and three of the siblings suffer from moderate mental retardation, pachygyria and strabismus. It is suggested that this is a distinct type of autosomal recessive pachygyria.

Abnormalities, Multiple↗
PubMed1996

Increased major salivary gland secretion in familial dysautonomia.

Familial dysautonomia (FD), an autosomal recessive peripheral nervous system disorder, affects almost exclusively children of Jewish Ashkenazi origin and causes profound generalized autonomic dysfunction. Excessive drooling is frequent and is traditionally attributed to swallowing difficulties. Although true hypersalivation has been postulated, no quantitative assessment of the salivary secretion rate has yet been reported. The authors determined this rate in 13 children with FD and 28 healthy controls. Resting parotid, submandibular/sublingual and unstimulated whole salivary secretion rates were significantly elevated in children with FD. The known relation of salivary function with age was found in controls only. This apparently major contribution of salivary hyperfunction to excessive drooling in FD may be attributable to salivary gland denervation supersensitivity, as this mechanism is present in the cardiovascular system and the pupil in FD.

Adolescent↗
PubMed1996

Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation.

Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder associated with the expansion of a CAG trinucleotide repeat in the MJD1 gene located on 14q32.1. We confirmed that the CAG expansion caused MJD in a Yemenite Jewish family and demonstrated that most of the clinical variation among members of this family was due to the genotype of the affected individuals. Six patients who presented with an early onset (25 years) and severe disorder were found to be homozygous for the CAG expansion. Among 5 heterozygotes for the CAG expansion older than 40 years, one had neurological symptoms from the age of 45, while the others were asymptomatic. In one of the heterozygotes, no neurological symptoms were present when last examined at the age of 66. Homozygosity for the MJD1 mutation was the main cause of variability in this large family, however, other factors clearly played a role in the expression of the gene. We could demonstrate that homozygote sibs with similar expansion in both alleles had significant differences in disease severity. Gender did not affect the clinical expression in this family.

Adolescent↗
PubMed1996

Abnormal enamel and pulp dimensions in familial dysautonomia.

In familial dysautonomia (FD), a hereditary autonomic and sensory neuropathy, somatic growth is impaired. This study was conducted to explore the possibility that tooth dimensions are altered as a consequence of neural crest dysfunction known to be present in FD. Enamel, dentin, pulp, and tooth size measurements of mandibular primary and permanent molars from FD patients were compared with those of healthy controls. It was found that although tooth size in the FD patients was smaller than normal, the enamel was thicker on the occlusal table, while the pulp chamber was smaller and disproportional to tooth size. Our results suggest distorted tooth dimensions rather than a generalized growth arrest as observed in other hereditary syndromes, such as Down's or Crouzon.

Adolescent↗