Biomedical subjects

T Shohat

Publications and source records attributed to T Shohat.

At least 37 records · Page 2Linked to original sources

PubMed2000

Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups.

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterised by recurrent attacks of inflammation of serosal membranes. Amyloidosis leading to renal failure is the most severe complication in untreated patients. In Israel FMF is most frequent among Jews of North African origin. Recently the causative gene (MEFV) has been found and the common mutations characterised. The aim of this study was to investigate the carrier rates of the common MEFV mutations among 400 healthy members of four different ethnic groups (100 in each group) in Israel, and to compare the distribution of the different mutations between FMF carriers and patients. We found a high frequency of carriers among Jews from the various ethnic groups. In North African Jews it was 22%, in Iraqi Jews 39%, in Ashkenazi Jews 21%, and in Iranian Jews 6%. The distribution of the four most common MEFV mutations among healthy individuals (M694V 29%, V726A 16%, M6801 2% and E148Q 53%) was significantly different (P < 0.003) from that found in patients (M694V 84.4%, V726A 9.0%, M6801 0% and E148Q 6.6%). Six healthy asymptomatic individuals were found to carry mutations in both alleles: two homozygotes for E148Q and four compound heterozygotes E148Q/other. These results demonstrate a very high carrier rate among all Jewish ethnic groups. They confirm that mutation E148Q is associated with a milder phenotype, which explains the lower prevalence of FMF among the Ashkenazi and Iraqi Jews. This study raises the question of the need for molecular screening for M694V homozygotes in the Israeli North African Jewish community.

Adult↗

PubMed2000

Immunologic response to a single dose of tetanus toxoid in older people.

OBJECTIVES: Several studies have demonstrated that a large percentage of older people are inadequately immunized against tetanus. The aim of this study was to assess the immunity against tetanus in a group of individuals aged 69 and older and to examine the immune response to a single dose of tetanus toxoid. DESIGN: A convenience sample of 115 residents of a large retirement home, aged 69 and older, was studied. After a blood sample for anti-tetanus antibody titer, a single dose of tetanus toxoid vaccine was administered. Repeat titers were obtained 6 weeks after the vaccination and analyzed by ELISA assay. Antibody levels equal to or greater than 0.1 IU/mL were considered protective. RESULTS: Sixty-seven of 115 (58.3%) individuals had adequate antibody titers. Those individuals who reported having been vaccinated with tetanus toxoid in the past were more likely to be immunized adequately compared with those who reported having never been vaccinated (66.7% vs 39.3%, P = .02). After vaccination, 34 of 46 (73.9%) individuals with inadequate antibody titers became seropositive. Those who remained seronegative had mean prevaccination antibody titers significantly lower than those who seroconverted. Sixteen of 17 (94.1%) persons who reported having been vaccinated in the past and were found to be seronegative developed adequate antibody titers following vaccination, compared with only nine of 16 (56.2%) who reported never having been vaccinated (P = .04). There was no association between seroconversion rate and age, sex, underlying diseases, and army service. CONCLUSIONS: Most individuals will develop an adequate anti-tetanus antibody titer following administration of a single dose of tetanus vaccine. A history of past immunization is a good predictor of becoming adequately immunized. It is important that physicians follow the current recommendations for adult immunization and initiate campaigns to ensure that the older population is protected against tetanus.

Aged↗

PubMed2000

Familial Mediterranean fever: effects of genotype and ethnicity on inflammatory attacks and amyloidosis.

OBJECTIVE: The gene causing familial Mediterranean fever (FMF)-an autosomal recessive disease characterized by recurrent short episodes of fever associated most commonly with peritonitis, pleuritis, and arthritis-has recently been found and several mutations identified. The most severe complication of the disease is amyloidosis, which can lead to renal failure. The aim of this study was to investigate the role of genetic versus nongenetic factors on the phenotype as well as on the development of amyloidosis in FMF in a large and heterogeneous group of patients. METHODOLOGY: We studied 382 patients from 4 ethnic origins living in different environments: North African Jews, other Jews, Turks, Armenians living in the United States, and Armenians from Yerevan, Armenia. Information regarding amyloidosis was available for 371 patients. We examined the association between the mutation M694V and the development of amyloidosis, and we also compared the clinical characteristics of the inflammatory attacks in patients from different ethnic origins, while controlling for the type of mutation. RESULTS: A significant association was found between amyloidosis and the most common mutation in exon 10 of the FMF gene (MEFV), M694V (for M694V homozygotes, relative risk = 1.77; 95% CI = 1.16-2.71). Amyloidosis was present in 44 of 171 homozygous FMF patients (25.7%), in 22 of 143 compound heterozygous FMF patients (15.4%), and in 7 of 57 patients carrying other mutations (12.3%). In homozygotes for M694V who had not been treated with colchicine before 20 years of age, the risk of amyloidosis developing before this age was 61.0%. In our series, there were no cases of amyloidosis in 16 patients carrying the common mutation E148Q. We found that the type and severity of the FMF inflammatory symptoms were associated with both the genotype and the country of residence of the patient. CONCLUSIONS: In the light of the high frequency of amyloidosis in homozygotes for the mutation M694V, colchicine treatment should be given to this group irrespective of the severity of the inflammatory attacks to prevent the development of amyloidosis. Our findings also suggest that factors other than genotype, such as environment or genes other than MEFV, play a role in the determination of the severity of the inflammatory attacks in FMF. amyloidosis, specific mutation, phenotype-genotype correlation, ethnicity.

Age of Onset↗

PubMed2000

Gender differences in the reactogenicity of measles-mumps-rubella vaccine.

BACKGROUND: In trials comparing different formulations of measles vaccine, excess non-specific mortality occurred in female children who received high titer vaccine. These findings suggest a gender-specific effect of measles vaccine. OBJECTIVES: To determine whether gender differences exist in the rates of adverse reactions and morbidity in the month following immunization with measles-containing vaccine, and to evaluate whether there is a gender-specific association between the humoral immune response to measles vaccination and post-vaccination morbidity. METHODS: Parents completed questionnaires on the health status of 755 infants aged 15-20 months, during the month preceding and the month following the measles-mumps-rubella vaccination. Blood samples were tested for measles antibody titers in a subsample of 237 infants. RESULTS: After controlling background morbidity in the infants, the relative risk of fever and rash following vaccination was 2.35 in females and 1.36 in males. The geometric mean antibody titers against measles were similar in both sexes and there was no significant association between antibody titer and post-vaccination morbidity in either sex. CONCLUSIONS: Our findings demonstrate higher rates of adverse effects in females following vaccination with MMR vaccine, irrespective of the humoral response. This study emphasizes the need to consider possible gender differences when evaluating new vaccines.

Antibodies, Viral↗

PubMed2000

Prenatal diagnosis for detecting congenital malformations: acceptance among Israeli Arab women.

BACKGROUND: A high rate of consanguineous marriages exists within the Israeli Arab community, with approximately half occurring between first cousins. This contributes towards a high incidence of congenital malformations and autosomal recessive diseases, many of which are detectable at prenatal diagnosis. OBJECTIVES: To assess the levels of both awareness and acceptance regarding prenatal diagnosis and termination of pregnancy among a group of Arab women in order to devise the optimal means of providing genetic counseling and general health services. METHODS: A total of 231 Arab women of childbearing age were interviewed 3 days postpartum to assess their knowledge of prenatal diagnosis and termination of pregnancy, their willingness to undergo prenatal diagnosis, and their opinions on termination of pregnancy in the event of a severely affected fetus. RESULTS: Half the women believed that prenatal testing is not an effective (or accurate) tool for diagnosing an affected fetus. A quarter had poor knowledge on prenatal diagnosis, and a quarter believed that prenatal diagnosis does provide the correct diagnosis. Ninety-five percent said they would agree to undergo prenatal diagnosis; and in the event of a severely affected fetus, 36% said they would agree to a termination of pregnancy, 57% said they would not, and 7% were undecided. CONCLUSIONS: There is a need for special intervention programs, with guidance by health professionals, geneticists and religious authorities, that will inform this population on the increased risk associated with consanguinity, stress the importance and effectiveness of prenatal testing to identify severe congenital malformations, and help them to accept prenatal diagnosis and termination of pregnancy if indicated.

Abortion, Eugenic↗

PubMed2000

[Diphtheria in a highly immunized population].

Although diphtheria vaccination is routine world-wide, outbreaks of the disease continue to occur in supposedly vaccinated populations. The incidence of diphtheria in Israel is very low, with only 3 cases reported in the past 24 years (all in unvaccinated children). In 2 of the 3 an asymptomatic carrier was identified among the patients' close contacts, presumable the source of the infection. We describe a recent case of diphtheria. It is important for physicians to be aware of the possibility of diphtheria occurring despite the high rate of vaccination in our population.

Child↗

PubMed1999

Methylenetetrahydrofolate reductase genotypes and early-onset coronary artery disease.

BACKGROUND: Homozygosity for the common (677C-->T) mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with hyperhomocysteinemia, but there is uncertainty as to the association between this mutation and coronary artery disease (CAD). This study examined the association between MTHFR genotypes and age at onset of CAD. METHODS AND RESULTS: Patients (n=169) with documented myocardial infarction or angiographically documented CAD who were aged < or = 55 years at onset of CAD symptoms and DNA samples from control subjects (n=313) were studied. The prevalence of homozygosity among patients with early CAD onset (aged < or = 45 years) was 28%, which was significantly higher than that in patients with later onset (13%) and in control subjects (14%) (odds ratio 2.4, 95% CI 1.24 to 4.69, P=0.006, and odds ratio 2.7, 95% CI 1.15 to 6.42, P=0.01, respectively). Plasma folate was lower in TT homozygotes who had early CAD onset than in those with later onset (P=0.005). Among patients with plasma folate in the lowest quintile (< or = 12.6 nmol/L), 31% were homozygotes, as were 45% of those with low plasma folate and early CAD onset. There was no difference in the prevalence of traditional risk factors among genotypes. The frequency of homozygosity in patients with < or = 1 risk factor was higher than in those with > or = 2 risk factors (30% versus 12%, P<0.05). In multiple regression analysis, TT homozygosity and plasma folate were independently associated with CAD, but the impact of folate was small. CONCLUSIONS: Homozygosity for the 677C-->T mutation of MTHFR is common and is associated with an increased risk of premature CAD in this population.

Age of Onset↗

PubMed1999

[Use of sentinel reporting clinics for influenza surveillance in the winter of 1996-1997].

In a joint effort of the Israel Center for Disease Control, the National Center for Influenza in the Central Virology Laboratory, together with a group of collaborating pediatricians and family physicians, a network for influenza surveillance was established in the winter of 1996-97. Nose and throat swabs were obtained from 571 patients with flu-like illness. 133 (23%) were positive for influenza virus. Both influenza A(H3N2) and B were isolated, predominantly influenza B during the beginning of the season. Both circulating strains were antigenically similar to those included in the vaccine for 1996-1997. Patients from whom influenza virus was isolated were significantly more likely to suffer from cough and myalgia in comparison with patients whose cultures were negative (p = 0.02 and 0.003, respectively). Results of the first year of surveillance indicate that sentinel reporting clinics are useful for timely detection and identification of the viral strains circulating in the community, thus allowing prompt intervention in preventing the spread of influenza. Conclusions from the first year of the study were drawn and applied in the winter of 1997-1998.

Adolescent↗

PubMed1999

Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterised by recurrent attacks of inflammation of serosal membranes. Amyloidosis is the most severe complication of the disease. The aim of this study was to investigate the genotype-phenotype correlation and specifically the association between amyloidosis and the four common mutations in exon 10 of the gene causing FMF (MEFV) in a total of 83 FMF families from three ethnic groups: North African Jews, Armenians and Turks. A significant association was found between amyloidosis and the specific mutation at the MEFV gene: Met694Val (RR = 1.41, P = 0.02). Amyloidosis was present in 18 out of 87 homozygous FMF patients (20.7%) and in only two out of the 41 compound heterozygous FMF patients (4.9%). No patients carrying other mutations had amyloidosis. There was no significant association between the various mutations and the type or severity of the FMF symptoms. This finding underscores the importance of performing molecular studies on all suspect FMF patients. In addition to providing accurate diagnosis, these tests allow identification of presymptomatic genetically affected individuals, detection of carriers and assessment of the risk for amyloidosis in later life.

Adolescent↗

PubMed1999

Mortality from infectious diseases in Israel, 1979-1992, based on revised ICD-9 codes: implications for international comparisons.

OBJECTIVES: This study examined trends in infectious disease mortality rates in Israel between 1979 and 1992, using a traditional and a revised set of International Classification of Diseases, Ninth Revision (ICD-9) codes. METHODS: A revised scheme of ICD-9 codes was used to compute mortality rates from infectious diseases for the period 1979 through 1992 by sex and for different age categories. RESULTS: Age-adjusted infectious disease mortality rates based on the revised ICD-9 codes were 3 times higher than those based on traditional codes. Between 1979 and 1992, age-adjusted mortality rates declined more under the revised method than under the traditional method (20% vs 1.7%). CONCLUSIONS: The revised set of ICD-9 codes allows a more comprehensive view of the burden of infectious diseases on public health.

Adolescent↗

PubMed1998

Amyloidosis in familial mediterranean fever is associated with a specific ancestral haplotype in the MEFV locus.

Familial Mediterranean fever (FMF) is a recessive disease characterized by recurrent attacks of inflammation of serosal membranes, and the gene responsible, MEFV, has been recently identified. Amyloidosis is considered to be the most severe complication. Since colchicine is effective in preventing FMF amyloidosis and since this process can develop even prior to the FMF symptoms, lifelong colchicine treatment is recommended for all FMF patients. Identification of the factor which determines amyloidosis will allow treatment to be directed only to those at risk. In order to investigate the association between amyloidosis and MEFV haplotypes, we studied 56 families from three ethnic groups. We compared the haplotypes of FMF patients with and without amyloidosis in each ethnic group separately and identified 14 different MEFV core haplotypes. A significant association (P < 0.004) was found between amyloidosis and a specific core haplotype, 153bp:104bp at markers D16S3370 and D16S2617, respectively. Amyloidosis was present in 20 out of 70 homozygotes for this haplotype and in 6 out of 35 compound heterozygotes for this and other core haplotypes. None of the patients who did not carry this allele had amyloidosis. There was no association between the various haplotypes and severity of the FMF symptoms, age of onset, or age at commencement of colchicine. Further investigation of the MEFV haplotypes in additional patients is recommended as such an association may save many mildly affected or asymptomatic patients with non-amyloidotic genotypes from receiving unnecessary lifelong colchicine treatment.

Adolescent↗

PubMed1998

Factors associated with inappropriate hospitalization days in internal medicine wards in Israel: a cross-national survey.

BACKGROUND: The high costs of health care mandate a quality control system that ensures efficient utilization of hospitalization days. OBJECTIVES: To obtain a national estimate of the rate of inappropriate hospitalization days in medical wards and to identify the variables associated with inappropriateness. DESIGN: A 1-day cross-national survey. SETTING: A sample of internal medicine wards in all public hospitals in Israel. SURVEY POPULATION: The survey population included all patients hospitalized in the ward for at least 24 hours on the survey day. INSTRUMENTS: We used an adapted version of the appropriateness evaluation protocol (AEP) (Gertman and Restuccia). Reviewers were final year medical students trained to work with the AEP. Final classification of inappropriate days was done by one of the senior investigators. OUTCOME MEASURE: Utilization of hospitalization days according to the AEP. RESULTS: A total of 1003 hospitalization days in 33 medical wards in 24 hospitals was surveyed. Of this, 182 (18.1%) of the days were found to be inappropriate. In multiple logistic regression analysis, variables significantly associated with inappropriate days were government versus other hospital ownership (OR, 1.51; CI, 1.15-1.96), diagnosis on admission of acute cardiac event versus other diagnosis (OR, 0.46; CI, 0.27-0.77), and period (first, second or final third) of the stay (OR, 1.61; CI, 1.29-2.03). In 62.6% of the 'inappropriate days', continuation of hospitalization was justified (72% were patients awaiting tests or consultation). In 6.7% of the total days surveyed, no justification for continuation of hospitalization was found. CONCLUSION: The percentage of inappropriate days found in this study is similar to the means found in studies that were conducted in other countries. Awaiting procedures and consultation is a major cause of inappropriate days and may be an important target for intervention.

Aged↗

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

Consanguinity and common adult diseases in Israeli Arab communities.

Consanguinity has a deleterious effect with regard to congenital malformation and rare autosomal recessive diseases; however, little information exists on its role in multifactorial common adult morbidity. We investigated the effects of consanguinity on the prevalence of common diseases in adulthood, including diabetes mellitus, myocardial infarction, bronchial asthma, and duodenal ulcer. As part of a larger study investigating the inbreeding coefficient in the Israeli-Arab community, we distributed questionnaires to parents of 4,100 second-grade students in 158 randomly chosen schools. Among the 3,772 responders (92%), 34.8% of the students' fathers and 31% of their mothers were found to be born to consanguineous matings. There was no difference in the prevalence (males, females) between the offspring of consanguineous versus non-consanguineous matings for diabetes mellitus (consanguinity: 4.3%, 1.5% vs. non-consanguinity: 2.9%, 1.6%) myocardial infarction (2.7%, 0.03% vs. 2.3%, 0.03%), bronchial asthma (2.4%, 2.0% vs. 3.7%, 2.3%), or duodenal ulcer (7.0%, 3.0% vs. 7.8%, 2.9%), respectively. The study suggests that even in a population with a high rate of consanguinity, there is no significant increase in the prevalence of these common adult diseases.

Adult↗

PubMed1997

A gene for arthrogryposis multiplex congenita neuropathic type is linked to D5S394 on chromosome 5qter.

Arthrogryposis multiplex congenita (AMC) is a heterogeneous-symptom complex characterized by joint contractures at birth that involve more than one part of the body. We performed a genetic-linkage study of one large Israeli-Arab inbred kindred showing autosomal recessive inheritance of AMC neuropathic type that had been recently investigated by our group. After analysis of approximately 80% of the genome, D5S1456, which showed no increased homozygosity, showed increased genotype sharing in affected individuals. Linkage analysis in all family members revealed linkage between AMC and D5S1456 on chromosome 5qter (maximum LOD score 5.3 at recombination fraction .001). Analysis of additional markers in this region places the gene causing AMC in this family between D5S1456 and D5S498.

Arabs↗

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

International epidemiological and microbiological study of outbreak of Salmonella agona infection from a ready to eat savoury snack--II: Israel.

OBJECTIVES: To explain an increase in the incidence of salmonellosis caused by Salmonella agona in Israel between October 1994 and January 1995 in the light of an outbreak of S agona phage type 15 infection in England and Wales caused by consumption of a ready to eat savoury snack produced in Israel. DESIGN: Epidemiology of S agona in 1994-5 was analysed and two consecutive, case-control studies of 32 and 26 case-control pairs were performed. Phage typing and molecular methods were used to characterise strains of S agona isolated from cases and samples of the snack in Israel and England and Wales. RESULTS: The increase in the incidence of S agona between October 1994 and January 1995 was countrywide. Cases of infection with group B salmonella increased from 60% to 80% in children under 5 years old. In both case-control studies, cases consumed more of the snack than did controls (4.25 v 2.94 packets per week in the first study (P = 0.086) and 4.04 v 2.37 packets per week in the second study (P = 0.034)). When the two studies were combined there was a significant dose-response relation for the number of packets consumed weekly. Compared with consumption of less than two packets, the odds ratio was 1.43 for between two and six packets and 3.37 for seven or more packets (chi 2 for trend = 5.27, P = 0.02) S agona phage type 15 was isolated from a packet of the snack sold in Israel, and the strain was identical with those isolated from packets and cases in Israel and England and Wales. CONCLUSIONS: This outbreak of S agona was caused by the contamination of a snack produced in Israel. Even under modern operating conditions, large, widespread international outbreaks of foodborne disease can occur. The success of this investigation resulted from excellent international collaboration between public health authorities.

Case-Control Studies↗

PubMed1996

Measles immunity and response to revaccination of a young adult population in Israel.

In order to evaluate the true immune status and the effect of revaccination on a young adult population, we collected serum samples from 289 military recruits who were vaccinated during an outbreak in 1991. Most vaccinees, age 18-25 years, had apparently been immunized once before as infants. Sera collected just prior to the vaccination and 14 and 28 days afterwards were tested for measles antibodies by hemagglutination inhibition (HI) and enzyme-linked immunosorbent assay (ELISA)-IgM. Before vaccination, 46 (15.9%) of the subjects had no HI antibodies, (< 1:4) and 48 (16.6%) had borderline (1:4) HI titer. Following vaccination, only ten (3.5%) remained negative and 19 (6.6%) had borderline titer. The increase in HI antibody titer was inversely proportional to the prevaccination titer, and 159 subjects (55.0%) showed no increase at all. The geometric mean titer (GMT) rose from 9.14 to 21.47. Among the prevaccination-negative subjects (HI < 1:4) 28 (60.9%) reached a postvaccination titer of > or = 1:8, and eight (17.4%) reached a titer of 1:4. Twelve (26.1%) of the negative subjects seroconverted and developed IgM, 16 (35%) seroconverted without IgM, and 18 (39%) remained negative and did not develop IgM. A group of eight vaccinees with prevaccination titer of > or = 1:4 developed IgM. Some were probably infected by the circulating wild-type virus prior to the vaccination. Thus, a total number of 20 of the 289 subjects studied (6.9%) had true negative preimmune status as judged by the IgM test. However, the vaccination campaign prevented further measles cases, apparently by increasing the population's immunity, particularly in individuals with very low titers or without measles antibodies.

Adolescent↗