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Biomedical subjects

M Shohat

Publications and source records attributed to M Shohat.

At least 91 records · Page 5Linked to original sources
PubMed1997

Speech disorders in Israeli Arab children.

The aim of this work was to study the frequency of speech disorders in Israeli Arab children and its association with parental consanguinity. A questionnaire was sent to the parents of 1,495 Arab children attending kindergarten and the first two grades of the seven primary schools in the town of Taibe. Eight-six percent (1,282 parents) responded. The answers to the questionnaire revealed that 25% of the children reportedly had a speech and language disorder. Of the children identified by their parents as having a speech disorder, 44 were selected randomly for examination by a speech specialist. The disorders noted in this subgroup included errors in articulation (48.0%), poor language (18%), poor voice quality (15.9%); stuttering (13.6%), and other problems (4.5%). Rates of affected children of consanguineous and non-consanguineous marriages were 31% and 22.4%, respectively (p < 0.01). We conclude that speech disorders are an important problem among Israeli Arab schoolchildren. More comprehensive programs are needed to facilitate diagnosis and treatment.

Arabs↗
PubMed1996

Audiovestibular findings in patients with deafness caused by a mitochondrial susceptibility mutation and precipitated by an inherited nuclear mutation or aminoglycosides.

OBJECTIVE: To characterize the audiological and vestibular changes associated with a mitochondrial DNA mutation in an Arab-Israeli family and in other families with mitochondrial predisposition to aminoglycoside-induced hearing loss. DESIGN: Evaluation of audiological (pure tone thresholds, speech reception thresholds, speech discrimination, tympanometry, acoustic reflex thresholds, tone decay, and auditory brain-stem evoked response recording) and vestibular (complete history, physical examination, and 2-channel electronystagmography) systems. In 5 patients, structural evaluation of the inner ear was done by magnetic resonance imaging. PATIENTS: Fifteen members of an Arab-Israeli family, and 1 Chinese woman with the same mitochondrial DNA mutation who experienced hearing loss after short-term exposure to streptomycin. RESULTS: Most of the patients had a profound hearing loss due to cochlear involvement. The hearing loss usually was not accompanied by notable peripheral vestibular dysfunction. In the patient with severe hearing loss after exposure to aminoglycoside, the vestibular function was completely normal. CONCLUSIONS: In most of the Arab-Israeli patients with congenital deafness, the vestibular system function was normal, in contrast to the frequency of vestibular abnormality among deaf children, which was described in the literature. This may be related to genetic predisposition to aminoglycoside-induced deafness.

Adult↗
PubMed1996

Familial hypothyroidism with autosomal dominant inheritance.

Three generations of a family with clinical and subclinical hypothyroidism caused by thyroid stimulating hormone (TSH) unresponsiveness are described. Findings were low to normal serum thyroxine, raised serum TSH, and low radioiodine uptake; goitre was notably absent. This family is the first evidence of an autosomal dominant mode of transmission of TSH unresponsiveness and may enable identification of the precise defect by genetic linkage study.

Adolescent↗
PubMed1996

Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia.

To investigate the effect of recombinant hGH treatment on the growth rate and proportion of individuals with achondroplasia and hypochondroplasia, we studied 15 individuals with these common skeletal dysplasias. The study lasted 24 months and included 6 months of observation, 12 months of hGH therapy (0.04 mg/kg.day), and 6 months of posttreatment growth rate determination. In achondroplasia, the mean growth rate during the hGH treatment (5.3 +/- 1.6 cm) was significantly increased compared with that during the pretreatment (4.0 +/- 1.0 cm.yr, P < 0.01)) and posttreatment periods (3.1 +/- 1.3 cm; P < 0.001). In the 4 children with hypochondroplasia, the growth rate during hGH treatment was 7.0 +/- 2.4 cm/yr and 4.9 +/- 1.5 cm/yr during the pre- and posttreatment periods, respectively. In achondroplasia, there was a significant increase in growth rate of only the lower segment (from 1.1 +/- 1.6 cm/yr to 3 +/- 1.2 cm/yr, P < 0.02). There was no significant acceleration in the growth of the upper segment and of the scanogram measurements of the long bones. No untoward effects were noted. Recombinant hGH increases short-term growth velocity in children with achondroplasia/hypochondroplasia. Unexpectedly, this treatment does not seem to have a lesser effect on limbs than on trunk growth rate and, therefore, during 1 yr of treatment, does not increase body disproportion.

Achondroplasia↗
PubMed1996

Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246.

This report presents refined genetic mapping data for the gene causing familial Mediterranean fever (FMF), a recessively inherited disorder of inflammation. We sampled 65 Jewish, Armenian, and Arab families and typed them for eight markers from chromosome 16p. Using a new algorithm that permits multipoint calculations for a dense map of markers in consanguineous families, we obtained a maximal LOD score of 49.2 at a location 1.6 cM centromeric to D16S246. A specific haplotype at D16S283-D16S94-D16S246 was found in 76% of Moroccan and 32% of non-Moroccan Jewish carrier chromosomes, but this haplotype was not overrepresented in Armenian or Arab FMF carriers. Moreover, the 2.5-kb allele at D16S246 was significantly associated with FMF in Moroccan and non-Moroccan Jews but not in Armenians or Arabs. Since the Moroccan Jewish community represents a relatively recently established and genetically isolated founder population, we analyzed the Moroccan linkage-disequilibrium data by using Luria-Delbrück formulas and simulations based on a Poisson branching process. These methods place the FMF susceptibility gene within 0.305 cM of D16S246 (2-LOD-unit range 0.02-0.64 cM).

Algorithms↗
PubMed1996

Partial trisomy 10q: further delineation of the clinical manifestations involving the segment 10q23-->10q24.

We describe a postterm female infant with multiple anomalies who had trisomy 10q23.1-->10q26. The patient had an unbalanced translocation inherited from her father who is a balanced carrier with the karyotype 46,XY,t (10;13) (q23.1;q34). In addition to the recognized features of trisomy 10q syndrome, our patient demonstrated certain specific abnormalities which have not been previously described in this syndrome. These were bilateral large pterion, bilateral small asterion, clitoromegaly, and complete absence of the hymen. In most previously described cases of trisomy 10q, the duplicated section started at 10q24. It is suggested that the additional features in this patient may be attributed to the extra duplicated chromosomal material in 10q23.1-->10q24.

Abnormalities, Multiple↗
PubMed1996

Demographic characteristics of the Israeli Arab community in connection with consanguinity.

In a previous nationwide survey of the Israeli Arab community we showed that 44% of all marriages are consanguineous. Further analysis of the data from this previous survey was undertaken, and we defined six demographic characteristics that may be associated with consanguinity or non-consanguinity in the marriages. Of these, we found a significant correlation (P <0.001) with religion (for Moslems, odds ratio 1.7), consanguinity in parents' marriages, and the respondent's attitude towards consanguineous marriage. The educational level achieved was not a major factor in the type of marriage chosen. These findings should enable us to plan specifically designed educational and counseling programs with a view to reducing the overall incidence of consanguineous marriage.

Adult↗
PubMed1995

Familial Mediterranean fever: high gene frequency among the non-Ashkenazic and Ashkenazic Jewish populations in Israel.

Familial Mediterranean fever (FMF) is an autosomal recessive recurrent episodic inflammatory disorder that occurs with high frequency in certain populations in the Mediterranean area. Using extended pedigree data of 90 FMF probands, we calculated the FMF gene frequency in various ethnic groups in Israel by analyzing the frequency in a total of 2,312 first cousins. The heterozygote frequencies were as follows: 1:4.9 (0.2 +/- 0.06) for the Libyan subgroup, 1:6.4 (0.16 +/- 0.03) for the other North African countries subgroup, 1:13.3 (0.07 +/- 0.04) for the Iraqi subgroup, 1:11.4 (0.09 +/- 0.06) for the Ashkenazic subgroup, and 1:29.4 (0.03 +/- 0.03) for the remaining ethnic groups. The observed number of affected parents and offspring of the probands was in agreement with the estimated gene frequency. Thus, the FMF gene frequency is very high in all Jewish ethnic groups in Israel, especially those originating in North African countries. This also explains the parent-to-off-spring transmission of FMF reported in North-African Jews.

Africa, Northern↗
PubMed1995

Arthrogryposis multiplex congenita in an Arab kindred: update.

We have restudied the genetic and clinical characteristics of a large Arab kindred previously reported in 1970 by Lebenthal et al. [Pediatrics 46:891-899]. At total of 40 affected individuals was identified; all, except one, were products of 22 different consanguineous matings between the parents. The syndrome, which is present at birth, is expressed mainly by flexion contractures at the knees and elbows, with muscle hypotrophy/weakness around the involved joints. Five of the 6 individuals who were originally reported as having congenital and lethal heart defects were limited to one sibship. None of the new cases had heart defect or any associated malformation. Neurologic examination and electrophysiological studies demonstrated a neuropathic (non-myopathic) type of arthrogryposis. This is an autosomal recessive trait with wide variability in expression and possibly incomplete penetrance in the females. Because of the high consanguinity rate, it allows the use of homozygosity linkage studies to map the gene for this disorder.

Arthrogryposis↗
PubMed1995

Amniocentesis rate and the detection of Down syndrome and other chromosomal anomalies in Israel.

We investigated the contribution of different screening criteria to the prenatal detection of Down syndrome (DS) as well as other chromosomal anomalies in the Jewish population in Israel during 1990 and 1992. There was a significant decrease (P < 0.03) in the incidence of DS live-births during 1992 (40:78 442) compared with 1990 (69:73 751) which paralleled a marked increase in total prenatal testing and in DS cases detected prenatally. Private laboratories, which perform amniocenteses mostly for women with a low risk of DS and without genetic counselling, had a significantly lower detection rate (1:917) compared with that of the genetic institutes, which following genetic counselling test both women > or = 37 years of age (1:91) and women younger than 37 years (1:113). The detection of chromosomal anomalies other than DS was less affected by the reason for amniocentesis. Amniocentesis indicated by maternal serum marker screening of women younger than 37 years identified a greater number of chromosomal anomalies other than DS than amniocentesis based on age (> or = 37 years) alone (111:9604 versus 94:9810; P < 0.06). Prenatal detection of DS is most effective when the indication for amniocentesis follows genetic counselling. The increasing use of maternal serum marker screening leads to a significant improvement in the positive detection rate of chromosomal anomalies other than DS in young women.

Adult↗
PubMed1995

Solar activity cycle and the incidence of foetal chromosome abnormalities detected at prenatal diagnosis.

We studied 2001 foetuses during the period of minimal solar activity of solar cycle 21 and 2265 foetuses during the period of maximal solar activity of solar cycle 22, in all women aged 37 years and over who underwent free prenatal diagnosis in four hospitals in the greater Tel Aviv area. There were no significant differences in the total incidence of chromosomal abnormalities or of trisomy between the two periods (2.15% and 1.8% versus 2.34% and 2.12%, respectively). However, the trend of excessive incidence of chromosomal abnormalities in the period of maximal solar activity suggests that a prospective study in a large population would be required to rule out any possible effect of extreme solar activity.

Adult↗
PubMed1995

Aniridia: recent achievements in paediatric practice.

Aniridia is a rare panocular disorder which primarily involves not only the iris, but also the retina, optic nerve, lens and cornea. Visual acuity deteriorates as a result of nystagmus, glaucoma, cataract, corneal opacities and retinal hypoplasia. Aniridia may appear as an isolated disorder, most often familial with autosomal dominance or sporadically in association with at least 12 syndromes. Both familial isolated and Wilms tumour, bilateral sporadic aniridia, genitourinary abnormalities and mental retardation syndrome-associated aniridia have been traced to a mutation of the PAX6 gene on band 11p13. Since genetic diagnosis of this disorder is already possible, counselling affected families should be preceded by karyotype studies and linkage analysis in familial cases of isolated aniridia. In sporadic cases of isolated aniridia or WAGR syndrome, we suggest that PAX6 mutation analysis be employed.

Aniridia↗
PubMed1995

Down syndrome prevention program in a population with an older maternal age.

OBJECTIVE: To investigate the effect of a relatively high proportion of pregnant women 35 years and older on the efficacy of prenatal screening for Down syndrome. METHODS: We obtained information on normal and abnormal cytogenetic and maternal serum marker studies for 1990 and 1992 from all 11 public and two private cytogenetic laboratories operating in Israel. RESULTS: In the Jewish Israeli population, 16.2-17.1% of all pregnant women are at least 35 years old. Thus, prenatal testing of all pregnant women at least 35 years old could have identified 62.8-66.5% of all Down syndrome cases. Screening by maternal serum markers would classify 9.28% of pregnancies as being at high risk for Down syndrome (greater than 1:386 at birth). The percentage of Down syndrome cases detected prenatally increased from 78 of 147 (53%) to 123 of 163 (75%) as a result of the increased use of prenatal testing from 11.3% to 19.4% of all pregnancies in 1990 and 1992, respectively. CONCLUSIONS: In a population with a high proportion of mothers at least 35 years old, as in the Jewish population in Israel, screening by maternal serum markers instead of by maternal age alone would leave the Down syndrome detection rate unchanged, but would lower the amniocentesis rate from 16.2-17.1% to 9.28%. In addition to the reduction in the expected fetal loss as a result of post-amniocentesis spontaneous abortion, this policy would also pay the cost of maternal serum marker testing of the entire pregnant population.

Adult↗
PubMed1995

Acute lymphoblastic leukemia with a unique translocation in an adolescent boy.

We report a case of an adolescent boy with acute lymphoblastic leukemia whose blasts had three chromosomal abnormalities: trisomy 8, a t(5;15), and an extra "marker" chromosome. The patient presented with huge hepatosplenomegaly and pancytopenia. The response to treatment (ALL BFM 90 protocol) was very rapid, and the patient is in complete remission 1 year after diagnosis.

Adolescent↗
PubMed1995

Late diagnosis of Down syndrome due to incorrect cytogenetic diagnosis and extreme prematurity.

A 26-week gestation, premature neonate who developed a transient myeloproliferative disorder is presented. The morphological features of Down syndrome were not obvious at this gestational age, and the cytogenetic studies gave a misleading normal karyotype after the infant received non-irradiated blood. The diagnosis of Down syndrome was not made until 27 weeks after delivery. The problem of misleading cytogenetic results is discussed in particular in premature infants receiving transfusions with non-irradiated blood products. Although the possibility of uniparental diosomy due to loss of one chromosome 21 was not excluded, this seems to be the first report of a false-normal cytogenetic study after non-irradiated blood.

Adult↗
PubMed1994

Possible protection against asthma in heterozygotes for familial Mediterranean fever.

To identify a specific heterozygote advantage in familial Mediterranean fever (FMF), responsible for the high carrier rate of 1/6 in North African Jews, we studied the morbidity and mortality of 148 parents of affected patients and of 148 ethnically matched control persons. Our data demonstrate an apparently reduced prevalence of asthma in the heterozygotes compared with the control persons (3 vs. 6). There were no significant differences between the 2 groups in fertility rate, number of pregnancies and deliveries, or the prevalence of common diseases. Our data are in agreement with previous studies which demonstrated decreased asthma prevalence in FMF patients. It further confirmed, these findings suggest that identification of the FMF gene on 16p may provide an insight into asthma.

Adult↗