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PubMed1997

The diabetic foot.

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Diabetic Angiopathies↗
PubMed2001

Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients.

Leukodystrophy with macrocephaly as the main features of infantile neurodegenerative disease are characteristics of Canavan's disease, L-2-hydroxyglutaric aciduria, type I glutaric aciduria, and Alexander's disease. Also occasionally described are occidental congenital muscular dystrophy, G(M)2-gangliosidosis, metachromatic leukodystrophy, Krabbe's disease, and mucopolysaccharidosis. Since 1995, over 60 patients with a new syndrome, vacuolating megalencephalic leukoencephalopathy, have been described. The syndrome is characterized by macrocephaly, a slowly progressive clinical course of ataxia, spastic paraparesis, and seizure disorder with relatively spared cognition. Unlike other leukodystrophies with macrocephaly (except Alexander's disease), no metabolic marker has been found. We describe a similar group of 12 patients from two different Jewish ethnic origins in whom consanguinity is prominent. These patients have neuroimaging features and magnetic resonance spectroscopy findings indicating that there is an initial increase in white-matter edema with subsequent cystic formation. Consistent with loss of tissue in these areas, brain metabolites are reduced. The familial incidence in this group of patients is suggestive of autosomal-recessive inheritance.

Adolescent↗
PubMed2004

Mohmmar Qadaffi, open access, and retrovirology.

Retrovirology has been publishing as an Open Access online journal for approximately six months. In this editorial, I review the reasons for and the advantages of Open Access publishing, update our progress to date, and summarize where we intend to go with this journal.

Access to Information↗
PubMed1979

Creutzfeldt-Jakob disease: familial clustering among Libyan-born Israelis.

Creutzfeldt-Jakob disease was studied among Libyan-born Israelis, in whom the disease appears with unusual frequency. Interviews with relatives of deceased victims revealed statistically significant clustering within families. The results suggest either a common source of exposure or a genetic influence on susceptibility to the virus.

Adult↗
PubMed1992

Presence of prion protein in peripheral tissues of Libyan Jews with Creutzfeldt-Jakob disease.

The prion protein (PrP) gene on chromosome 20 encodes a protein designated PrPC. An abnormal, protease-resistant isoform of PrPC, denoted PrPCJD or PrPSc, is present in the brains of patients with Creutzfeldt-Jakob disease (CJD). In Libyan Jews, CJD segregates with a point mutation at codon 200 of the PrP gene, resulting in the substitution of lysine for glutamate. In the present study, we examined the presence of PrP in fibroblasts and leukocytes derived from eight CJD patients with the codon 200 mutation. In cultured fibroblasts as well as in leukocytes, there was a significant increase in PrP as judged by immunocytochemistry in addition to immunoblotting. Most of the PrP in fibroblasts and leukocytes could be released from the external surface by phosphatidylinositol-specific phospholipase C, a property characteristic of PrPC. In leukocytes only, part of the protein was protease resistant, resembling PrPCJD. The concentration of PrP mRNA was similar in fibroblast lines derived from controls and CJD patients. These results suggest that in CJD patients carrying a mutation at codon 200 of the PrP gene, the metabolism of PrP, rather than PrP synthesis, is abnormal.

Animals↗
PubMed1994

The risk of developing Creutzfeldt-Jakob disease in subjects with the PRNP gene codon 200 point mutation.

We determined the penetrance of the PRNP 200Lys mutation in the large cluster of Creutzfeldt-Jakob disease (CJD) cases among Jews of Libyan-Tunisian origin living in Israel, utilizing data from 52 carriers with definite or probable CJD and 34 unaffected mutation carriers. A life table analysis was carried out with development of CJD as the end point. The probability of developing CJD rose with age, fitting a second-order regression curve (R = 0.97, p < 0.001). The cumulative penetrance reached 50% at the age of 60 and 80% at 80 years. Including seven elderly possible CJD patients in the analysis made the penetrance approach 100% by age eighty. The penetrance of the mutation is high, and although age is a predominant influencing factor, other factors, such as gender, may also play a role.

Adult↗
PubMed1997

Differential allelic expression of PrP mRNA in carriers of the E200K mutation.

Creutzfeldt-Jakob disease (CJD) linked to the E200K mutation of the prion protein (PrP) gene presents with a wide range of age at disease onset. Since most patients are heterozygous for the mutation, we tested whether differential expression of mutant versus wild-type (wt) PrP may affect the age at disease onset in carriers of the mutation. We measured wt and mutant PrP protein and mRNA in Epstein-Barr virus (EBV)-transformed B cells of either E200K CJD patients or healthy E200K carriers. Our results suggests that while in most healthy carriers the expression of wt PrP was higher than that of E200K PrP, most of the E200K CJD patients express equal levels of both PrP proteins. Similar results were obtained for either PrP protein or PrP mRNA. These results suggest that preferential expression of PrP from the wt allele may modulate the outbreak of the disease in carriers of prion mutations. This notion is consistent with the results obtained in transgenic mice carrying a human PrP gene, which suggest that endogenous PrP protects mice from contracting scrapie after inoculation with human CJD brain. Similar mechanisms may prevail in other inherited diseases with variable phenotypes.

Alleles↗
PubMed2002

Estimating HIV-1 transmission efficiency through unsafe medical injections.

The transmission efficiency of HIV-1 through unsafe medical injections can be estimated from seroconversions among health care workers (HCWs) after percutaneous exposures and documented iatrogenic outbreaks. Data from a case-control study of seroconversion after percutaneous exposures among US and European HCWs shows an average rate of seroconversion after deep injuries - arguably comparable to unsafe injections - of 2.3%. Information from an iatrogenic HIV outbreak in a Romanian orphanage suggests a transmission efficiency of 2-7%. Even these estimates may be too low to explain the rapid spread of HIV among Russian and Libyan children in iatrogenic outbreaks discovered in 1988 and 1998, respectively. In countries in sub-Saharan Africa and elsewhere with high HIV prevalence and large numbers of unsafe injections, personal risk as well as the share of the HIV epidemic associated with unsafe injections may be an order of magnitude higher that many experts have supposed.

Adult↗
PubMed2005

Determination of selenium in Libyan food items using pseudocyclic instrumental neutron activation analysis.

Cyclic and pseudocyclic instrumental neutron activation analysis (INAA) has been used to determine the Se content of 40 Libyan food items. The selected samples include different varieties of local and imported foods such as wheat and barley products (bran and flours), rice, bread, almond, peanuts, vegetables as bean and peas, tea, coffee, sugar, and commonly used spices such as red and black paper, curry, cumin, mixture of spices, thyme, coriander, and fenugreek. Both conventional and anticoincidence gamma-ray spectrometry techniques have been employed. Pseudocyclic INAA in conjunction with anticoincidence counting has been found to provide the most reliable results. The precision of the method has been significantly improved by recycling the samples up to three times. The accuracy has been evaluated by analyzing a number of certified reference materials of varied Se levels. The detection limit has been found to vary between 26 and 90 ppb Se depending on the sample composition. The range of daily dietary intake has been calculated as 13-44 microg of Se per day.

Adult↗
PubMed2006

Determination of iodine in Libyan food samples using epithermal instrumental neutron activation analysis.

Epithermal instrumental neutron activation analysis (EINAA) has been used to determine the iodine content of many individual food materials that constitute the typical Libyan diet. The selected samples include different varieties of local and imported foods such as wheat and barley products, rice, bread, legumes such as chick peas and lentil, table salt, and commonly used spices, including thyme and fenugreek. Both conventional and anticoincidence gamma-ray spectrometry techniques have been employed. Epithermal INAA in conjunction with anticoincidence counting has been found to provide the most reliable results. For quality control purposes, a number of NIST biological reference materials were analyzed. The range of daily dietary intake has been calculated as 100-180 microg of iodine per day, which is within the recommended range. Bread was identified as a significant source of iodine in the Libyan diet, as it contributed 99 microg/d.

Diet↗
PubMed1995

High incidence of childhood-onset IDDM in Kuwait. Kuwait Study Group of Diabetes in Childhood.

OBJECTIVE: To determine the incidence of insulin-dependent diabetes mellitus (IDDM) in children aged 0-14 years in Kuwait, as part of the World Health Organization Multinational Collaborative Study (DIAMOND), and to determine if the incidence rates have increased. RESEARCH DESIGN AND METHODS: All cases of IDDM diagnosed before the child's 15th birthday between 1 January 1992 and 31 December 1993 were recorded. Prospective notification of all children with newly diagnosed diabetes who were admitted to hospitals and periodic review of hospital medical records provided the primary source; notification by physicians working in diabetic clinics, in which registry of all new cases is mandatory, provided the secondary source of ascertainment. RESULTS: The degree of ascertainment was 92.2%. The annual incidence of IDDM for children aged 0-14 years over the 2-year period was 15.4/100,000 (95% confidence interval, 12.4-19), with a male:female ratio of 1.2:1. The age-specific annual incidence rates for the age-groups 0-4, 5-9, and 10-14 years were 12.8, 15.1, and 18.3/100,000, respectively, with a male:female ratio of 1.45:1 in the 0- to 4-year-old age-group and an equal sex ratio in the 5- to 9- and 10- to 14-year-old age-groups. No significant difference was detected between incidence rates of IDDM in boys and girls in the three age-groups. There was no significant linear trend toward an increase in IDDM incidence rates as age advanced. Compared with a previous study by Taha et al. (Taha T, Moussa M, Rashed A, Fenech F: Diabetes mellitus in Kuwait: incidence in the first 29 years of life. Diabetologia 25:306-308, 1983), there was a nearly fourfold increase of IDDM in the age-group 0-14 years, mainly in those children < 5 years old, suggesting a rapid increase in a short period of time. CONCLUSIONS: Kuwait has the highest incidence of IDDM in children in the region, and an apparently increasing incidence has been demonstrated over the last decade.

Adolescent↗