Analysis of the complete coding region of the CFTR gene in ten Algerian cystic fibrosis families. (1/139)

The spectrum of cystic fibrosis (CF) mutations in the North African population remains poorly known. In order to offer an effective diagnostic service and to determine accurate risk estimates, we decided to identify the CF mutations in 10 Algerian CF families. We carried out a chemical-clamp denaturing gradient gel electrophoresis analysis of the CFTR gene and automated direct DNA sequencing. We identified 5 mutations and we characterized 60% of the CF chromosomes. Taking advantage of the homogeneity of the sample, we report clinical features of homozygous CF patients.  (+info)

Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency. (2/139)

Combined factor V-factor VIII deficiency (F5F8D) is a rare, autosomal recessive coagulation disorder in which the levels of both coagulation factors V and VIII are diminished. The F5F8D locus was previously mapped to a 1-cM interval on chromosome 18q21. Mutations in a candidate gene in this region, ERGIC-53, were recently found to be associated with the coagulation defect in nine Jewish families. We performed single-strand conformation and sequence analysis of the ERGIC-53 gene in 35 F5F8D families of different ethnic origins. We identified 13 distinct mutations accounting for 52 of 70 mutant alleles. These were 3 splice site mutations, 6 insertions and deletions resulting in translational frameshifts, 3 nonsense codons, and elimination of the translation initiation codon. These mutations are predicted to result in synthesis of either a truncated protein product or no protein at all. This study revealed that F5F8D shows extensive allelic heterogeneity and all ERGIC-53 mutations resulting in F5F8D are "null." Approximately 26% of the mutations have not been identified, suggesting that lesions in regulatory elements or severe abnormalities within the introns may be responsible for the disease in these individuals. In two such families, ERGIC-53 protein was detectable at normal levels in patients' lymphocytes, raising the further possibility of defects at other genetic loci.  (+info)

Epidemic typhus imported from Algeria. (3/139)

We report epidemic typhus in a French patient returning from Algeria. The diagnosis was confirmed by serologic testing and the isolation of Rickettsia prowazekii in blood. Initially the patient was thought to have typhoid fever. Because body lice are prevalent in industrialized regions, the introduction of typhus to pediculosis-endemic areas poses a serious public health risk.  (+info)

Isolation of Rickettsia prowazekii from blood by shell vial cell culture. (4/139)

A blood sample from a patient who returned from Algeria with a fever inoculated on human embryonic lung fibroblasts by the shell vial cell culture technique led to the recovery of Rickettsia prowazekii. The last clinical strain was isolated 30 years ago. Shell vial cell culture is a versatile method that could replace the classic animal and/or embryonated egg inoculation.  (+info)

Diabetic foot lesions: etiologic and prognostic factors. (5/139)

The clinical characteristics of 132 diabetic patients referred for treatment of foot lesions were surveyed. One hundred and sixty three lesions (n=163) concerned 88 men and 44 women during a five-year period (from January 1989 to December 1993). Hospitalisation rate equalled 9.16%, i.e. 11.17% for men and 6.82% for women (p <0.001); the men/women ratio was 1.64. Eighty nine per cent (89%) of patients presented type 2 diabetes and 11% of patients type 1 diabetes. Mean age at the first foot lesion was 59.64 +/- 11.74 years. The mean duration of diabetes was 10.95 +/- 6.80 years. The patients had a high prevalence of diabetic complications, particularly peripheral neuropathy (84.85%) and obvious peripheral arteriopathy (78.78%). Infection was almost constant. There was no significant difference between men and women as far as the prevalence of complications was concerned. Smoking habits were noticed only in men. Inadequate footwear was considered as the major exogenous risk factor leading to a foot lesion. The definitive results 6 months after hospitalisation were as follows: the death rate was 9.09% (n=2; 11 men and 1 women, NS); 15.90% of patients (n=12) underwent a major amputation (4 at the level of the thigh, 17 at the level of the leg), 14.39% of patients (n=19) underwent a minor amputation; in 59.09% of patients (n=78) there was no amputation. Two patients (1.51%) underwent two consecutive amputations, left hospital against medical advice during their second hospitalisation, and then were lost sight. The prevalence of foot lesions was more important in men. Moreover, seriousness of the lesions and consequently the rate of amputations were important in men; this was probably due to smoking habits. The factors that influence the outcome seem to be: male gender, delay of management, quality of medical treatment, surgical attitude, inadequate level of amputation and finally lack of structured prevention. Prevention then should be based on the patient's education, general practitioners' training and a better and more efficient cooperation between surgeons and diabetologists.  (+info)

Coeliac disease: a potentially treatable health problem of Saharawi refugee children. (6/139)

OBJECTIVE: To characterize the clinical and nutritional impact of coeliac disease (gluten-sensitive enteropathy) among Saharawi children living as refugees in Algeria. METHODS: A total of 65 Saharawi children with coeliac disease were compared with 71 age-matched non-coeliac controls. For each participant, the clinical history was taken and a clinical examination, non-quantitative 24-hour dietary recall, anthropometric and skinfold measurements, bioelectric impedance analysis (BIA) of body composition, and venous blood sampling for haemoglobin determination were performed. RESULTS: Gluten-containing food, especially bread, was the staple diet of Saharawi children. Abdominal pain and distension were significantly commoner among children with coeliac disease than in controls (P < 0.05). The mean height-for-age was significantly lower in such children than in controls (-2.5 +/- 1.4 units vs -1.8 +/- 1.3 units, respectively, P < 0.01). No significant differences were found for either skinfold or BIA measurements. Haemoglobin values tended to be lower in children with coeliac disease than in controls. CONCLUSIONS: Coeliac disease has a negative effect on the health status of Saharawi refugee children. Because of the high prevalence of the condition in the Saharawi, a specific programme for treating all affected individuals should be established. Further studies are required to quantify the impact of coeliac disease in other areas of the developing world.  (+info)

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. (7/139)

The Charcot-Marie-Tooth (CMT) disorders comprise a group of clinically and genetically heterogeneous hereditary motor and sensory neuropathies, which are mainly characterized by muscle weakness and wasting, foot deformities, and electrophysiological, as well as histological, changes. A subtype, CMT2, is defined by a slight or absent reduction of nerve-conduction velocities together with the loss of large myelinated fibers and axonal degeneration. CMT2 phenotypes are also characterized by a large genetic heterogeneity, although only two genes---NF-L and KIF1Bbeta---have been identified to date. Homozygosity mapping in inbred Algerian families with autosomal recessive CMT2 (AR-CMT2) provided evidence of linkage to chromosome 1q21.2-q21.3 in two families (Zmax=4.14). All patients shared a common homozygous ancestral haplotype that was suggestive of a founder mutation as the cause of the phenotype. A unique homozygous mutation in LMNA (which encodes lamin A/C, a component of the nuclear envelope) was identified in all affected members and in additional patients with CMT2 from a third, unrelated family. Ultrastructural exploration of sciatic nerves of LMNA null (i.e., -/-) mice was performed and revealed a strong reduction of axon density, axonal enlargement, and the presence of nonmyelinated axons, all of which were highly similar to the phenotypes of human peripheral axonopathies. The finding of site-specific amino acid substitutions in limb-girdle muscular dystrophy type 1B, autosomal dominant Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy type 1A, autosomal dominant partial lipodystrophy, and, now, AR-CMT2 suggests the existence of distinct functional domains in lamin A/C that are essential for the maintenance and integrity of different cell lineages. To our knowledge, this report constitutes the first evidence of the recessive inheritance of a mutation that causes CMT2; additionally, we suggest that mutations in LMNA may also be the cause of the genetically overlapping disorder CMT2B1.  (+info)

Sampling bias in the molecular epidemiology of tuberculosis. (8/139)

Among the goals of the molecular epidemiology of infectious disease are to quantify the extent of ongoing transmission of infectious agents and to identify host- and strain-specific risk factors for disease spread. I demonstrate the potential bias in estimates of recent transmission and the impact of risk factors for clustering by using computer simulations to reconstruct populations of tuberculosis patients and sample from them. The bias consistently results in underestimating recent transmission and the impact of risk factors for recent transmission.  (+info)

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