Analysis of association between bleomycin hydrolase and apolipoprotein E polymorphism in Alzheimer’s disease

Alzheimer’s disease (AD) is the leading cause of dementia. Several studies indicate a possible relationship between different genes and Alzheimer’s disease. To further investigate, we have analyzed the association between the bleomycin hydrolase (BLMH) and apolipoprotein E (ApoE) polymorphisms in 93 AD patients and age- and sex-matched 113 controls from the Tunisian population. The frequency of ApoE epsilon 4 allele was found to differ significantly in AD patients compared to the control [29.5% vs. 8.8 (χ ² = 26, df = 1, p < 0.001)] leading to an increased risk of AD in subjects with this allele (OR = 3.29, 95% CI = 1.7–6.5; p = 0.001]. This risk was found to decrease from OR = 8.4, CI = 3.3–23; p < 0.001 in subjects less than 75 years old to OR = 1.2, CI = 1.031–14; p = 0.0297 in subjects 75 years and older. No association was observed between carrying the BLMH-G genotype and AD in ε4 negative or positive subjects.     

Susacs syndrome

We describe a 25-year-old woman that presented with frequent rotational dizziness, visual loss of the right eye one month later, and unilateral deafness one year after. After 2 years, she presented with a right hemiparesis and deafness greater for low frequency tones. Magnetic resonance imaging with angiography of the brain showed constriction in the first segment of the cerebral anterior artery diagnosed as Susac's syndrome.     

Visceral leishmaniasis in children: prognostic factors

The morbidity and death rate of visceral leishmaniasis (VL) is important. The aim of our study is to find prognosis factors of VL. Two hundred and thirty two children with VL were retrospectively studied. These children were followed in Rabta and Kairouan hospitals between 1985 and 1998. We identify 7 prognosis factors, at the hospital admission, visit delayed more than 56 days, fever during more than 21 days, normal or low temperature, haemorrhagic syndrome hemoglobin rate < 5.5 g/dl, sedimentation rate < 25 mm and hypoalbuminaemia < 30 g/l. The presence of one prognosis factors or more appears to consider amphotericin B as a first-line treatment.     

Renal involvement in Fabry disease

BACKGROUND: Fabry disease is an X-linked recessive lysosomial storage disorder that is caused by deficient activity of alpha galactosidase A. Renal involvement occurs generally in hemizygous forms. AIM: We report one case of renal involvement in Fabry disease. CASE REPORT: A 47 year-old-man had focal and segmental glomerulosclerosis with moderate renal failure. As the patient presented history of acroparesthesias, hearing loss, left ventricular hypertrophy with arrhythmia and corneal deposits, hemizygous Fabry disease was suspected. This diagnosis was confirmed with low alpha galactosidase activity. After a follow up of 5 years, the renal function remains stable but the patient died by cardiac arrhythmia. CONCLUSION: Occurrence of a glomerulonephritis associated with an hypertrophic cardiopathy without hypertension should advocate Fabry disease.     

Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia

Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by the deficiency of specific enzymes which leads to the lysosomal accumulation of glycosaminoglycanes. Mucopolysaccharidosis type I or Hurler disease is characterized by the deficiency of alpha-l-iduronidase enzyme. Mucopolysaccharidosis type IVA or Morquio A disease is due to the lack of N-acetylgalactosamine-6-sulfate-sulfatase. Theses deficiencies result in a progressive accumulation of the substrates: dermatan and heparan sulfates for Mucopolysaccharidosis type I and keratan sulfate for MPS type IVA. This process leads to progressive and chronic course for visceral attacks of the affected organs such as lungs and heart. In the Hurler disease, the nervous system is particularly affected while in Morquio a disease, a skeletal dysplasia and a normal intelligence are characteristic.     

Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis

Summary  Glycogen storage disease type Ia (GSD Ia; OMIM 232200) is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the microsomal glucose-6-phosphatase (G6Pase). It is characterized by short stature, hepatomegaly, hypoglycaemia, hyperuricaemia, and lactic acidaemia. Various mutations have been reported in the G6Pase gene (G6PC). In order to determine the mutation spectrum in Tunisia, we performed mutation analysis in 22 Tunisian type I glycogen storage disease (GSD I) patients belonging to 18 unrelated families. All patients were clinically classified as GSD Ia. The R83C mutation was found to be the major cause of GSD Ia, accounting for 24 of 36 mutant alleles (66.6%), The R170Q mutation was the second most frequent mutation; it accounts for 10 of 36 mutant alleles (27.7%). The R83C and R170Q mutations could be rapidly detected by PCR/RFLP. Since the majority of Tunisian patients carried R83C and/or R170Q mutations, we propose direct screening of these mutations as a rapid, valuable and noninvasive tool for diagnosis of GSD Ia in Tunisian as well as in Northern African populations. Electronic Supplementary Material The online version of this article (doi:) contains supplementary material, which is available to authorized users. Online citation: JIMD Short Report #OR001 (2007) Authors E. Barkaoui and W. Cherif contributed equally to this article.