A molecular study of Tunisian populations of Dugesia sicula (Plathelminthes, Tricladida) through an identification of a set of genes.

Cell regeneration is a natural repair of different types of tissue after an injury or a lesion, and is associated with asexual reproduction in some animals such as planarians. Its understanding and improvement could have repercussions for tissue repair and regeneration as far as humans are concerned. In this context, we have proceeded to an essential step, which is the identification of the genes involved in planarian regeneration in the model species.

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.

Aim Of The Study: Recent advances in understanding the underlying molecular mechanism for distal renal tubular acidosis (dRTA), led to an increased attention towards the primary and the familial forms of the disease. Mutations in ATP6V1B1 and ATP6V0A4 are usually responsible for the recessive form of the disease. Mutations in gene AE1 encoding the Cl-/HCO3- exchanger, usually present as dominant dRTA, but a recessive pattern has been recently described.

Technological Implications of Modifying the Extent of Cell Wall-Proanthocyanidin Interactions Using Enzymes.

The transference and reactivity of proanthocyanidins is an important issue that affects the technological processing of some fruits, such as grapes and apples. These processes are affected by proanthocyanidins bound to cell wall polysaccharides, which are present in high concentrations during the processing of the fruits. Therefore, the effective extraction of proanthocyanidins from fruits to their juices or derived products will depend on the ability to manage these associations, and, in this respect, enzymes that degrade these polysaccharides could play an important role.

Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.

Background: Distal renal tubular acidosis (dRTA) is a rare genetic disease caused by mutations in different genes involved in the secretion of H+ ions in the intercalated cells of the collecting duct. Both autosomal dominant and recessive forms have been described; the latter is also associated with sensorineural hearing loss.

Methods: Twenty-two Tunisian families were analyzed for mutations in the ATP6V1B1 and ATP6V0A4 genes by direct sequencing.

[Hepatopulmonary syndrome and portal hypertension].

Background: The hepatopulmonary syndrome is known by the association of chronic hepatopathy and refractory hypoxemia linked to pulmonary vasodilatation. The hepatopathy may be an hepatic cirrhosis, a congenital porto-case shunt, a porte cavernous angioma or a portal high blood pressure.

Aim: Report new cases

Case Report: We report the observation of a girl followed from the age of 5 years for type I auto-immune hepatitis complicated of portal high blood pressure, in whom the hepatopulmonary syndrome appears 6 years later and the diagnosis was established in front of the presence of clinical signs (cyanosis and fingers clubbing) associated to a severe hypoxia at 43 mmHg without heart attack and in front of the results of scintigraphy use with albumine micro-agregat marked to technetium 99 m which objected an increase of perfusion at the lungs and an extra pulmonary fixation (cerebral, thyroïdien and renal).

[Vasculitis with renal involvement and antineutrophil cytoplasmic antibodies (ANCA) in a child receiving benzylthiouracil].

Vasculitis associated to antineutrophil cytoplasmic antibodies (ANCA) is a rare complication of therapy with antithyroid medication. They were mainly described in patients treated with propylthiouracil (PTU), carbimazole, methimazole and rarely by benzylthiouracil (Basden). We report a case of 12-years-old girl treated by benzylthiouracil for Grave's disease who developed after 2 years vasculitis associated with cutaneous involvement (generalized ulcer necrotic purpura) and glomerulonephritis with proteinuria of 24 hours at 26 mg/kg/day, microscopic hematuria and renal failure with creatinemia level at 135 micromol/l.