Achondroplasia in diverse Jewish and Arab populations in Israel: clinical and molecular characterization.
(17/471)
BACKGROUND: Achondroplasia is the most frequent form of disproportionate short stature, characterized by rhizomelic shortening of the limbs. This disorder is inherited as an autosomal dominant trait, although most of the cases are sporadic, a result of a de novo mutation. A recurrent glycine to arginine mutation at codon 380 (G380R) in the transmembrane domain of the fibroblast growth factor receptor 3 gene was found to cause achondroplasia among different populations. This is most uncommon in other autosomal dominant genetic diseases. OBJECTIVES: To determine whether this mutation is also common among Jewish patients from diverse ethnic groups and among the Arab population in Israel. METHODS: We examined the G380R mutation (G > A and G > C transition) and the mutation G375C (G > T transition at codon 375) in 31 sporadic patients and in one family diagnosed clinically to have achondroplasia. RESULTS: We found the G > A transition at codon 380 in 30 of our patients and the G > C transition in one patient. We were not able to detect any of the three mutations in two patients with an atypical form of achondroplasia. CONCLUSIONS: Our results further support the unusual observation that nucleotide 1138 of the FGFR3 gene is the most mutable nucleotide discovered to date across different populations. (+info)
Screening for genetic disorders among Jews: how should the Tay-Sachs screening program be continued?
(18/471)
The screening program in Israel for Tay-Sachs disease has proven very successful, giving Jewish couples a choice not to have affected children. The technology of carrier detection is now possible in several other severe genetic diseases that are relatively frequent among Jews. Due to the current confusion, a policy is needed to determine how the TSD screening program should be continued in the Israeli Jewish population. We propose that such a screening program include only mutations agreed by consensus as causing a disease severe enough to warrant the possibility of therapeutic abortion. We also propose that general screening include only mutations that are relatively frequent, taking into account the carrier frequencies in the Israeli Jewish population. (+info)
Outcome of "out of hospital" cardiopulmonary arrest in children admitted to the emergency room.
(19/471)
BACKGROUND: The outcome of cardiopulmonary arrest in children is poor, with many survivors suffering from severe neurological defects. There are few data on the survival rate following cardiopulmonary arrest in children who arrived at the emergency room without a palpable pulse. OBJECTIVE: To determine the survival rate and epidemiology of cardiopulmonary arrest in children who arrived without a palpable pulse at a pediatric ER in southern Israel. METHODS: We retrospectively reviewed the medical records of all patients with cardiopulmonary arrest who arrived at the ER of the Soroka University Medical Center during the period January 1995 to June 1997. RESULTS: The study group included 35 patients. Resuscitation efforts were attempted on 20, but the remaining 15 showed signs of death and were not resuscitated. None of the patients survived, although one patient survived the resuscitation but succumbed a few hours later. The statistics show that more cardiopulmonary arrests occurred among Bedouins than among Jews (32 vs. 3, P < 0.0001). CONCLUSIONS: The probability of survival from cardiopulmonary arrest in children who arrive at the emergency room without palpable pulse is extremely low. Bedouin children have a much higher risk of suffering from out-of-hospital cardiopulmonary arrest than Jewish children. (+info)
The 28-kb deletion spanning D15S63 is a polymorphic variant in the Ashkenazi Jewish population.
(20/471)
D15S63 is one of the loci, on chromosome 15q11-q13, that exhibit parent-of-origin dependent methylation and that is commonly used in the diagnosis of Prader-Willi or Angelman syndromes (PWS/AS). A 28-kb deletion spanning the D15S63 locus was identified in five unrelated patients; in each of them the deletion was inherited from a normal parent. Three of the five families segregating the deletion were reported to be of Jewish Ashkenazi ancestry, and in the other two families the ancestral origin was unknown. To determine whether the 28-kb deletion is a benign variant, we screened for the deletion in 137 unselected Ashkenazi individuals and in 268 patients who were referred for molecular diagnosis of PWS/AS, of whom 89 were Ashkenazi and 47 were of mixed origin (Ashkenazi and non-Ashkenazi Jews). In the control group, three individuals were carriers of the deletion; among the patients, three were carriers, all of whom were Ashkenazi Jews. There was no significant difference between the control group and the Ashkenazi patients, indicating that the deletion is not a cause of PWS- and AS-like syndromes. The frequency of the 28-kb deletion in the Ashkenazi population was 1/75. Since methylation analysis at the D15S63 locus may lead to misdiagnosis, we suggest the use of SNRPN, either in a PCR-based assay or as a probe in Southern hybridization, as the method of choice in the diagnosis of PWS/AS. (+info)
A prospective comparative analysis of mobility in osteoarthritic knees.
(21/471)
We have sought to clarify whether the traditional Arabic lifestyle prevents restriction of movement in patients with degenerative arthritis of the knee. The range of movement of 68 osteoarthritic knees of Arabic patients was compared with that of 51 healthy knees of Muslim patients and 83 osteoarthritic knees in non-Arabic patients. The range of flexion of the osteoarthritic knees in the Arabic patients matched that of the healthy control knees, but was significantly better than that of the osteoarthritic knees in the non-Arabic patients. There was also a statistically significant difference between the mean extension deficit of the two groups with osteoarthritis. Exercises may help to prevent restriction of movement in osteoarthritis of the knee. (+info)
Amyloidosis induced, end stage renal disease in patients with familial Mediterranean fever is highly associated with point mutations in the MEFV gene.
(22/471)
BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterised by recurrent attacks of fever and serositis. Amyloidosis is the most significant complication of FMF, leading to end stage renal disease (ESRD). Recently the gene (MEFV) causing this disease was cloned and more than 18 mutations have been identified. The hypothesis that the development of amyloidosis is associated with one of these mutations was tested. METHODS: 23 patients with FMF and ESRD were analysed for their MEFV mutations and correlated with their corresponding rectal and renal biopsies. As case controls 23 patients with FMF free of renal disease, but with similar origin, sex, age, and age at onset of FMF, were chosen. RESULTS: All the patients with ESRD induced by amyloidosis were homozygous for the M694V or M694I mutations. This finding was significantly different from that seen in the control group. CONCLUSIONS: Amyloidosis is highly associated with the 694 substitution in the MEFV gene causing FMF. It seems that genetic predisposition plays a part in the development of this complication of FMF. (+info)
Distinctive genetic signatures in the Libyan Jews.
(23/471)
Unlinked autosomal microsatellites in six Jewish and two non-Jewish populations were genotyped, and the relationships among these populations were explored. Based on considerations of clustering, pairwise population differentiation, and genetic distance, we found that the Libyan Jewish group retains genetic signatures distinguishable from those of the other populations, in agreement with some historical records on the relative isolation of this community. Our methods also identified evidence of some similarity between Ethiopian and Yemenite Jews, reflecting possible migration in the Red Sea region. We suggest that high-resolution statistical methods that use individual multilocus genotypes may make it practical to distinguish related populations of extremely recent common ancestry. (+info)
Cryptosporidium infection in Bedouin infants assessed by prospective evaluation of anticryptosporidial antibodies and stool examination.
(24/471)
An enzyme-linked immunosorbent assay system using oocyst lysate as antigen was used to detect serum- specific antibody responses to Cryptosporidium parvum between 1989 and 1994 in consecutive sera obtained at birth, and at the age of 6, 12, and 23 months, from 52 infants living in a Bedouin town located in the south of Israel. The serologic tests revealed high levels of immunoglobulin G anti-Cryptosporidium at birth that dropped significantly by the age of 6 months and then rose continuously to a geometric mean titer of 481 at age 23 months. The serum immunoglobulin M Cryptosporidium antibodies rose continuously from nearly undetectable levels at birth to a geometric mean titer of 471 (157-fold increase) at age 23 months. All the subjects already showed at 6 months a significant rise in immunoglobulin M. A significant rise in immunoglobulin A titers was detected in 48% and 91% of subjects at 6 and 23 months, respectively. By monthly surveillance, microscopy using the modified Ziehl-Neelsen method and confirmed by indirect immunofluorescence assay detected Cryptosporidium antigens in only 11% at age 6 months and 48% at age 23 months. The extent of exposure to Cryptosporidium immediately after birth as detected by serology is much higher than that predicted by frequent prospective assessment of stool samples. (+info)