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Serum cholesterol in Libyans.

The average diet consumed by Libyans resembles that in developed Western countries in being high in calories and containing a substantial amount of animal protein and fat. Total serum cholesterol and betalipoprotein cholesterol were determined in a section of the population of Benghazi and the figures were compared with those from other countries. In spite of consuming a high calorie and high animal fat diet, the total serum cholesterol and betalipoprotein cholesterol in Libyans were found to be much lower than those reported in the American population. The mean systolic and diastolic blood pressures in both sexes in the Libyan population were lower than those of Londoners. These lower figures in the Libyans, in comparision to those in developed countries, could be due to some genetic, environmental, geographic or dietetic factors and require investigations.

Adult↗

Measles in children under six months-of age: an epidemiological study.

This study was carried out in 989 cases of measles attending the communicable diseases clinic. University of Benin Teaching Hospital in the year 1977. It was found that measles is a disease of under 5 years and is more frequent amongst infants. Out of the total cases, a sub-group of children suffering from measles under 6 months of age were followed to their homes to study some of their socio-economic factors. It was observed that multiparity and a higher age group of mothers are probable factors. Poor environmental hygiene and low socio-economic status had a role in the transmission of the disease, but malnutrition was not found to be a contributory factor.

Epidemiologic Methods↗

[Imported schistosomiasis with late complications].

Schistosomiasis is a worm disease which causes a high mortality rate all over the world. The life span of worms can be 20-30 years, so if the acute phase of the disease is not fatal very often late complications can happen. Here we demonstrate two patients who suffered from different late complications of Schistosomiasis imported to our country. These two cases show the difficulty of diagnosis and therapy of such illnesses.

Adult↗

Libyan family with hypercholesterolemia and increased high-density lipoprotein cholesterol in plasma.

Genetic deficiencies of cholesteryl ester transport protein (CETP) and hepatic lipase activities have been associated with hyperalpha-lipoproteinemias. Here we present a family of 11 members, of which 9, including the father, mother, 5 sons, and 2 daughters, show a marked increase in high-density lipoprotein (HDL) cholesterol alone with low plasma concentrations of triglycerides. Analyses of lecithin:cholesterol acyltransferase (LCAT) activity, cholesteryl ester transfer between HDL fractions, hepatic lipase (HL) activity, and lipoprotein lipase (LPL) activity in these cases showed that a decrease in the heparin-releasable HL activity was the possible cause of the marked increase of HDL2 fractions observed in nine of them. Such a defect in HL activity could significantly affect HDL metabolism in particular and lipoprotein metabolism in general. Evidently, a marked increase in serum total cholesterol due to abnormal metabolism of HDL cholesterol, separate from known causes of altered low-density lipoprotein cholesterol metabolism, e.g., a clearance or a receptor defect, is not uncommon. The coordinated action of HL, LCAT, LPL, and CETP may be essential for normal metabolism of plasma lipoproteins.

Adolescent↗

Mutation and polymorphism of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease (CJD).

The inherited prion diseases are neurodegenerative disorders which are not only genetic but also transmissible. More than a dozen mutations in the prion protein gene that result in nonconservative amino acid substitutions segregate with the inherited prion diseases including familial Creutzfeldt-Jakob disease (CJD). In Israel, the incidence of CJD is about 1 case/10(4) Libyan Jews. A Lys200 substitution segregates with CJD and is reported here to be genetically linked to CJD with a lod score of > 4.8. Some healthy elderly Lys200 carriers > age 65 years were identified, suggesting the possibility of incomplete penetrance. In contrast, no linkage was found between the development of familial CJD and a polymorphism encoding either Met129 or Val129. All Libyan Jewish CJD patients with the Lys200 mutation encode a Met129 on the mutant allele. Homozygosity for Met129 did not correlate with age at disease onset or the duration of illness. The frequency of the Met129 allele was higher in the affected pedigrees than in a control population of Libyan Jews. The frequency of the Met129 and Val129 alleles in the control Libyan population was similar to that found in the general Caucasian population. The identification of three Libyan Jews homozygous for the Lys200 mutation suggests frequent intrafamilial marriages, a custom documented by genealogical investigations.

Age of Onset↗

Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

We have analyzed the tyrosinase (TYR) gene in 38 unrelated patients with oculocutaneous albinism (OCA), derived from several different ethnic groups of the diverse population of Israel. We detected TYR gene mutations in 23 of the 34 patients with apparent type I (i.e., tyrosinase-deficient) OCA and in none of the patients with other clinical forms of albinism. Among Moroccan Jews with type IA (i.e., tyrosinase-negative) OCA, we detected a highly predominant mutant allele containing a missense substitution, Gly47Asp (G47D). This mutation occurs on the same haplotype as in patients from the Canary Islands and Puerto Rico, suggesting that the G47D mutation in these ethnically distinct populations may stem from a common origin.

Adolescent↗

Complete penetrance of Creutzfeldt-Jakob disease in Libyan Jews carrying the E200K mutation in the prion protein gene.

BACKGROUND: Creutzfeldt-Jakob disease (CJD) is a prion disease which is manifest as a sporadic, inherited, and transmissible neurodegenerative disorder. The mean age at onset of CJD is approximately 60 years, and as such, many people destined to succumb undoubtedly die of other illnesses first. The delayed onset of CJD has complicated the analysis of inherited forms of the illness and led to the suggestion that mutations in the prion protein (PrP) gene are necessary but not sufficient for prion disease despite genetic linkage; indeed, an environmental factor such as a ubiquitous virus has been proposed as a second necessary factor. MATERIALS AND METHODS: To examine what appeared to be incomplete penetrance, we applied a life-table analysis to clinical and pedigree data from a cluster population of Libyan Jews in which the E200K mutation is prevalent. The study population included 42 affected and 44 unaffected members of 13 Libyan Jewish families, all of whom possessed the E200K mutation. RESULTS: The calculated value using life table analysis is 0.77 at age 70 which increases to 0.89 if a mutation carrier survives to age 80 and 0.96 if age 80 is surpassed. CONCLUSIONS: These data argue that the E200K mutation alone is sufficient to cause prion disease and does so in an age-dependent manner.

Adolescent↗

Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q.

Cystinuria is a hereditary disorder of amino acid transport and is manifested by the development of kidney stones. In some patients the disease is caused by mutations in the SLC3A1 gene, which is located on the short arm of chromosome 2 and encodes a renal/intestinal transporter for cystine and the dibasic amino acids. In Israel cystinuria is especially common among Jews of Libyan origin. After excluding SLC3A1 as the disease-causing gene in Libyan Jewish patients, we performed a genomewide search that shows that the Libyan Jewish cystinuria gene maps to the long arm of chromosome 19. Significant linkage was obtained for seven chromosome 19 markers. A maximal LOD score of 9.22 was obtained with the marker D19S882. Multipoint data and recombination analysis placed the gene in an 8-cM interval between the markers D19S409 and D19S208. Significant linkage disequilibrium was observed for alleles of four markers, and a specific haplotype comprising the markers D19S225, D19S208, D19S220, and D19S422 was found in 11 of 17 carrier chromosomes, versus 1 of 58 Libyan Jewish noncarrier chromosomes.

Amino Acid Transport Systems, Basic↗

Anaphylactic shock in a patient with ruptured hydatid liver cyst owing to trivial abdominal trauma.

A 16-year-old Libyan male was admitted to the Intensive Therapy Unit (ITU) of Zliten Central Hospital after he had been hit on the abdomen by a football, his main symptom was upper abdominal pain. The patient looked pale, was dyspnoeic and had an unrecordable blood pressure level. Abdominal examination revealed tenderness, guarding and rigidity all over the abdomen. Other results were normal and there were no external signs of injury. The patient received intravenous fluid, analgesia and oxygen by mask. Peritoneal lavage was performed and a small amount of sero-sanguineous fluid was expelled. After resuscitation measures his blood pressure rose and the patient was taken to the operation theatre for a laparotomy.

Abdominal Injuries↗

Occlusal status and permanent teeth eruption in Libyan children.

The occlusal status was assessed in 2015 Libyan children. Angle class I was found to be the predominant type (94.5%), overbite relationship in the majority (50.6%) were within the incisal third. The mean overjet measurements ranged from 2 mm. to 8 mm. Small proportion (13.4%) of the children examined were assessed to have a signs of crowding. Only 18.7% of the children were found to require orthodontic treatment. Eruption of permanent teeth was earlier in girls than in boys. The interval of rest between the mandibular lateral incisors and canines was 2.68 years for boys and 2.76 years for girls.

Adolescent↗

Biochemical and clinical studies in Libyan Jewish cystinuria patients and their relatives.

Cystinuria is a hereditary disorder manifested by the development of kidney stones. Three subtypes of the disease have been described, based on urinary excretion of cystine and the dibasic amino acids in heterozygotes, and oral loading tests in homozygotes. Cystinuria is very common among Libyan Jews living in Israel. Recently, we mapped the disease-causing gene in Libyan Jews to 19q, and have shown a very strong founder effect. In this report we present the results of biochemical and clinical studies performed on Libyan Jewish cystinuria patients and members of their families. High levels of cystine and the dibasic amino acids in heterozygotes support previous data that cystinuria in Libyan Jews is a non-type I disease. Oral loading tests performed with lysine showed some degree of intestinal absorption, but less than in normal controls. Previous criteria for determining the disease type, based solely on urinary amino acid levels, proved useless due to a very wide range of cystine and the dibasic amino acids excreted by the heterozygotes. Urinary cystine levels were useful in distinguishing between unaffected relatives and heterozygotes, but were unhelpful in differentiating between heterozygotes and homozygotes. Urinary levels of ornithine or arginine, and the sum of urinary cystine and the dibasic amino acids, could distinguish between the last two groups. Among stone formers, 90% were homozygotes and 10% were heterozygotes; 15% of the homozygotes were asymptomatic.

Chromosome Mapping↗