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Inherited prion disease (PrP lysine 200) in Britain: two case reports.

OBJECTIVE: To identify cases of inherited prion diseases in Britain and to assess their phenotypic features. DESIGN: Screening study of patients suspected clinically to have Creutzfeldt-Jakob disease and other neurodegenerative diseases by prion protein gene analysis. SETTING: Biochemical research department. SUBJECTS: Patients suspected to have Creutzfeldt-Jakob disease and other neurodegenerative diseases. RESULTS: Two patients with symptoms characteristic of sporadic Creutzfeldt-Jakob disease were found to have inherited prion protein disease (PrP lysine 200), with a mutation at codon 200 of the prion protein gene. Both were homozygous at codon 129 of the gene. One patient was a man aged 58 of British descent while the other was of Libyan Jewish origin. CONCLUSION: Two foci of inherited prion disease are known, among Libyan Jews and in Slovakia. A separate British focus of the disease may also exist. Heterozygosity at codon 129 may lead to reduced penetrance of the mutation.

Codon↗

Triophthalmia and facial clefting: a case report.

We describe a Libyan boy with an unusual phenotype of multiple congenital anomalies, including triophthalmia, dolichocephaly, porencephaly, cleft lip/palate, facial asymmetry, micrognathia, and VSD. The reported phenotype is likely to represent a new entity of non-chromosomal syndromic triophthalmia. Other possibilities are discussed.

Craniofacial Abnormalities↗

Forced expiratory indices in normal Libyan men.

Forced vital capacity (FVC), forced expiratory volume in one second (FEV1), forced expiratory ratio in the first second (FEV1% VC), forced expiratory flow between 200 and 1200 ml (FEF200-1200), and forced mid expiratory flow between 25% and 75% of FVC (FMF) were measured in 275 Libyan men ranging from 20 to 60 years. All values were lower with increasing age and, apart from FEV1% VC, were positively correlated with standing height. This study can be used as a source of reference for Libyan men.

Adult↗

Forced expiratory indices in normal Libyan children aged 6-19 years.

Forced vital capacity (FVC) and forced expiratory volume in one second (FEV1) were measured in 796 Libyan children (386 boys and 410 girls) with ages ranging from 6 to 19 years. Values in girls were significantly less than those in boys after allowance had been made for age and height. FVC and FEV1 correlated best with standing height but were also correlated with body weight. These results may be used as a source of standard values for Libyan children.

Adolescent↗

Spirometric reference values in Tunisian children.

BACKGROUND: In Tunisia, there are no normal values of pulmonary function for healthy Tunisian children. OBJECTIVES: The purpose of this study was to set reference values for spirometric lung function in Tunisian children and to compare these results with other data sets. METHODS: Spirometric values were measured with a Minato portable spirometer in 1,114 asymptomatic, nonsmoking Tunisian children (581 boys and 533 girls) 6-16 years of age. Natural logarithmic values of lung function and standing height were used in the final regression model. RESULTS: Prediction equations for forced vital capacity (FVC), forced expiratory volume in 1 s (FEV(1)), FEV(1)/FVC x 100, maximum mid expiratory flow (MMEF 25-75%) and peak expiratory flow (PEF) for both sexes are presented with standing height as the dependent variable. Our data show a significant increase in lung function with standing height in both sexes. Comparing our results with recent data, values of FVC and FEV(1) in both sexes in the present study are close to those in European, white US and Asian children, whereas our values are higher than the Libyan ones. CONCLUSIONS: Healthy Tunisian children showed similar spirometric reference values compared to European, white US and Asian children. Thus, these standards of lung function could also be used in Tunisia.

Anthropometry↗

Genetic and environmental factors determining the development of Creutzfeldt-Jakob disease in Libyan Jews.

The cluster of Creutzfeldt-Jakob disease (CJD) among Jews of Libyan origin is one of the largest in the world. A number of hypotheses have been proposed to account for this cluster, the most prevalent but unsubstantiated hypothesis being that a transmissible agent was ingested in the form of scrapie-infected sheep brains. It has, however, been shown that a modified host protein encoded by the gene specifying the scrapie amyloid precursor is critically involved in the pathogenesis of transmissible spongiform encephalopathies such as CJD, Gerstmann-Strüssler-Scheinker syndrome and Kuru. A mutation at codon 200 in the open reading frame of this gene has recently been linked to a cluster of CJD patients in Slovakia. We examined the prevalence of this mutation among CJD patients of Libyan descent in Israel. All patients were found to have the same codon 200 mutation. These findings implicate this mutation in the high prevalence of CJD among Libyan Jews and Sephardic Jews from other Mediterranean countries.

Cluster Analysis↗

Comparative study of salivary acetaminophen concentration in Libyans, Senegalese and Sudanese.

In the first of two experiments, acetaminophen (paracetamol) was measured in the saliva of healthy male and female Sudanese, Libyan and Senegalese volunteers. Saliva was collected 1 h after ingesting 1 g of the drug. In the second experiment, acetaminophen (1 g) was given orally to male Sudanese and Libyan volunteers, and saliva was collected 0.5, 1, 2, 3, 4, 5 and 6 h thereafter. The drug concentration in both experiments was measured by a modified spectrophotometric method with a detection limit of 1 microgram/ml. The results indicated that the salivary acetaminophen concentration in Sudanese was significantly (p < 0.05) higher in males than females by about 28%. In Libyans, the drug concentration in males was 19% higher than in females (insignificant, p > 0.05). There were no statistically significant differences in salivary acetaminophen concentrations between Sudanese, Libyans and Senegalese volunteers, although male Senegalese had higher levels than the Sudanese and Libyans by 11.4 and 15.8%, respectively. Acetaminophen salivary concentrations in Sudanese were slightly but significantly (p < 0.05) higher than those in Libyans 0.5 and 1.0 h after ingestion of the drug. Thereafter, there were no significant differences in the drug concentrations between the two groups (p > 0.1). The results of both experiments do not support the suggestion of inter-ethnic differences in acetaminophen clearance, but indicate that males may clear more of the drug through saliva than females.

Acetaminophen↗

Plasminogen polymorphism in Libyans: description of a new rare variant.

The genetic polymorphism of human plasminogen (PLG) was investigated in Libyans using wide-scale ultrathin-layer polyacrylamide isoelectric focusing with subsequent immunoblotting. The 2 common alleles, PLG*A and PLG*B, and 4 previously reported rare ones, PLG*A3, PLG*M4, PLG*B1 and PLG*B2, were observed. In addition, a new intermediate rare allele designated PLG*MTripoli (PLG*MT) was encountered. The estimated allele frequencies for the genes PLG*A, PLG*B, PLG*A3, PLG*MT, PLG*M4, PLG*B1 and PLG*B2 were 0.6409, 0.3091, 0.0182, 0.0045, 0.0091, 0.0045 and 0.0136, respectively. The isolated probability of exclusion in cases of disputed paternity among Libyans is 23.3%.

Alleles↗

PI*E Tripoli: a new allele in the alpha-1-antitrypsin system.

Genetic variants of the human serum alpha 1-antitrypsin (PI system) were analyzed in a population sample of 110 unrelated Libyans. Four common PI M variants and 3 rare ones, including a new anodal variant designated PI E Tripoli (PI ET) were identified. The estimated allele frequencies were: PI*M1 = 0.623; PI*M2 = 0.205; PI*M3 = 0.132; PI*M4 = 0.018; PI*ET = 0.005; PI*S = 0.005, and PI*T = 0.014.

Alleles↗

Spirometric standards of Libyan boys and girls.

Ventilatory capacities of 578 Libyan boys and 527 Libyan girls aged between 12 and 21 years were measured. The data of forced vital capacity (FVC) and forced expiratory volume in 1 s (FEV1) were analyzed by logarithmic regressions on age, standing height (stature), sitting height, body mass index and body surface area. The prediction formulae for pulmonary function in Libyan boys and girls were calculated. Standing height (stature) appears to be marginally better than sitting height as an index of body size in explaining the variance in ventilatory capacity of Libyan boys and girls. Libyan boys and girls have a greater proportional leg length than their British counterparts. Their mean values of FVC and FEV1 are lower than those of British children by about 13%. About 10% of Libyan boys are smokers. Below 14 years of age, there were no smokers. A steady rise in number of smokers from the age of 14 years reaching 41% at 21 years of age was observed. No smokers were reported from the Libyan girls. There was no statistically significant difference in the mean FVC or FEV1 between the smokers and nonsmokers.

Adolescent↗

Respiratory effects of occupational exposure to tobacco dust.

The ventilatory capacities of 195 tobacco factory workers exposed to tobacco dust and 190 Libyan men not exposed to tobacco dust were measured. In both groups, the forced vital capacity (FVC) and forced expiratory volume in 1 s were found to be correlated with age, stature, sitting height and body surface area. Those exposed to tobacco dust have decreased ventilatory capacity values as compared with age-matched unexposed workers. The duration of exposure to tobacco dust does not appear to have any significant effect on the ventilatory function. There was no significant difference in the lung function test values between the smokers and nonsmokers in both groups. The flow-volume curves were constructed for the unexposed and exposed groups of workers. At 25% FVC, in the group exposed to tobacco dust, there was a decrease in air flow by 20.8% as compared to age-matched normal unexposed Libyans. This indicates that the small airways are affected by exposure to tobacco dust. Flow-volume curves are useful in the assessment of lung function status.

Adult↗

Hereditary sideroblastic anaemia in 4 siblings of a Libyan family--autosomal inheritance.

Most of the hereditary sideroblastic anaemias are inherited as x-linked recessive traits and are often pyridoxine responsive. The present paper describes the classical features of sideroblastic anaemia in 2 male and 2 female siblings of a Libyan family. All 4 children had severe anaemia and moderate hepato-splenomegaly. The equal severity of the disease in all 4 family members suggests autosomal inheritance.

Anemia, Sideroblastic↗

Tea consumption and serum lipids in a Libyan population in Benghazi.

Libyan subjects are known to consume large amounts of tea. There are reports that consumption of tea is associated with a reduction in serum total cholesterol and LDL-cholesterol. In the present study an attempt has been made to study the effects of tea consumption on 604 local Libyan subjects at Benghazi. The study groups were divided into younger (20-40 years) and older age (41-65 years) groups. It was observed that there was a negative association between tea consumption and serum total cholesterol and LDL-cholesterol concentrations. It appears that tea consumption may be an independent factor influencing serum lipid levels.

Adult↗