Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.

Background: While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapping 17p13.3 duplications.

Multiplex Minisequencing of the HBB Gene: A Rapid Strategy to Confirm the Most Frequent β-Thalassemia Mutations in the Tunisian Population.

The β hemoglobinopathies [β-thalassemia (β-thal) and structural hemoglobin (Hb) variants such as Hb S (HBB: c.20A > T) and Hb E (HBB: c.79G > A)] are among the most common inherited diseases worldwide.

Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.

Background: Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H + -ATPase pump subunits is a heterogeneous disease with a poor phenotype-genotype correlation. Up to now, large cohorts of dRTA Tunisian patients have not been analyzed, and molecular defects may differ from those described in other ethnicities. We aim to identify molecular defects present in the ATP6V1B1, ATP6V0A4 and SLC4A1 genes in a Tunisian cohort, according to the following algorithm: first, ATP6V1B1 gene analysis in dRTA patients with sensorineural hearing loss (SNHL) or unknown hearing status.

[Sjögren-Larsson syndrome: 2 case reports].

Unlabelled: Sjögren-Larsson syndrome (SLS) is a neurocutaneous autosomal recessive disease caused by fatty aldehyde dehydrogenase (FADH) deficiency. This enzyme is involved in the biosynthesis pathways of some fatty acids, phytanic acid, and leukotrienes. The main features of the disease are its association with congenital ichthyosis, mental retardation, and spastic tetraplegia.

[Treatment of severe hemophagocytic syndrome associated with visceral leishmaniasis].

The association of hemophagocytic syndrome (HS) and visceral leishmaniasis is a frequent disorder during infancy in endemic areas such as Tunisia. The range of severity of HS secondary to visceral leishmaniasis includes both pure biological forms that resolve with antimicrobial therapy and life-threatening emergencies that require specific treatment. We describe 2 cases of severe HS secondary to visceral leishmaniasis.

[Cardiac amyloidosis revealing multiple myeloma].

Introduction: Amyloidosis is a rare disease characterized by an extracellular accumulation of a protein polysaccharid complex (Amyloid). Cardiac involvement is considered as a major prognostic factor.

Observations: We report the case of two women, hospitalized for heart failure.

[Recurrent pericarditis revealing a malignant mediastinal mesenchymoma].

Introduction: The malignant mesenchymoma is a malignant tumour composed of two or more types of non-differentiated tissue, associated with fibrosarcomatous elements. Its mediastinal localisation is exceptional.

Observation: In a 65 year-old woman, recurrent pericardial effusion revealed a malignant mesenchymoma measuring 11 x 9 x 4 cm, located in the mediastinum and extending towards the pericardium.

[Correlation of clinical and angiographic morphology in unstable angina].

The goal of this study was to compare the clinical presentation and angiographic morphology of patients having an unstable angina pectoris. A total of 321 patients were consecutively studied and underwent cardiac catheterization, mean age 59 + 6 years. According to Braunwald classification, class III was predominant (58%) On coronary angiography, 148 patients had single vessel disease, double-vessel in 92 and triple-vessel in 64.

[Mobile right atrial thrombus complicated by severe pulmonary embolism treated with low molecular weight heparin].

Right heart emboli-in-transit have been echocardiographically documented in up to 4 to 23% of patient with acute pulmonary embolism. The most appropriate therapeutic approach still remains an unresolved problem because there are no prospective and randomized trials to definitively answer this question. Thrombolysis seems to be the more attractive alternative.

[Congenital sick sinus syndrome in a healthy heart: case report].

Isolated congenital sick sinusal syndrome on non harmed heart is a rare affection. Its association with an atrio-ventricular block is exceptional. The authors report a case of a 19 year-old patient, with an early history of bradycardia, hospitalised for effort intolerance.

[Prevalence of severe mental retardation and trisomy 21 in 3 generations: 1972, 1976, and 1981].

With the aim of studying whether improved prenatal and perinatal care would lead to a decrease in the prevalence of severe mental retardation and/or in Down syndrome, handicapped children born in 1972, 1976 and 1981 and residing in 14 French "departements" were systematically registered in 1985-86 and 1989 in collaboration with the "Commissions Départementales de l'Education Spéciale" (CDES), which centralizes requests for specialty services. The findings showed a stable rates of Down's Syndrome (0.7 p.

Motor disability in children in three birth cohorts.

A systematic registration was carried out in 1985-1986 and 1989 in 14 French 'departments' in order to assess whether the prevalence rates of different components of motor disability (MD) in three different birth cohorts (1972, 1976 and 1981) had changed at a time when the preterm birth rate and neonatal mortality were decreasing and there was evidence of changing perinatal practice. A total of 1355 MD were registered amongst resident children born in 1972, 1976 and 1981 with a prevalence of 3.34 per 1000.