[Polymorphisms of the UDP-glucuronosyltransferase 1-A1 gene in Tunisian population]. / Polymorphismes alleliques du gene UDP-glucuronosyltransferase 1A1 dans une population Tunisienne.

The UDP-glucuronosyltransferase 1A1 gene that encode the enzyme UGT1A1 responsible for glucuronidation undergoes several variations that may affect the enzymatic activity or expression and which are the cause of metabolic disorders related to the glucuronidation of bilirubin, such as Gilbert's syndrome and Crigler Najjar's syndrome. Among the most common variations, there is the repeat polymorphism A (TA) n TAA in TATA box and biallelic mutation G211A in exon 1. We consider in this work to determine their frequencies in a healthy population. The polymorphism A (TA) n TAA showed that genotype [TA7/TA7] was described as being associated with Gilbert's syndrome and was encountered in 11% of the population studied. This percentage is close to the value described in the Caucasian population, estimated at 10%. Concerning the polymorphism G211A, our results show that the mutated allele is encountered in 15.7% of our study population. This frequency differs greatly from that reported for Caucasians and Afro-Americans but it is similar to that perceived at the Japanese. All these results suggest that the Tunisian population appears to be heterogeneous view UGT1A1 gene mutation status. Regarding the origins and distribution of such polymorphisms in our population, the study reveals a high haplotypic haplotype (TA) 6-G considered ancestral. The comparison of the haplotype structure generally leads to the development of a hypothetical tree of the origin and spread of different haplotypes.

[Inflammation and pleural fibrosis]. / Inflammation et fibrose pleurale.

Pleural effusions are frequent. There are many etiologies of inflammatory pleural effusions and of pleural fibrosis. Imaging (standard radiography, ultrasound, scanner, MRI) is important for visualization, localization, and assessment of abundance. Exsudative (inflammatory) effusion can sometimes be distinguished from hydrothorax. Imaging signs generally remain nonspecific but can contribute to the etiological diagnosis. In particular, a CT scan of the chest, without and with contrast injection (tissue impregnation) can, in addition to the study of pleural space, enable an visual assessment of the visceral and parietal pleura, the adjacent chest wall, and the adjacent pulmonary parenchyma or vessels, which may provide diagnostic clues. Imaging can also contribute to therapeutic guidance.

[Ectopic thyroid: two cases]. / L'ectopie thyroïdienne: à propos de deux cas.

Ectopic thyroid is a rare condition (1/4000 to 1/8000 among patients with hypothyroidism). The underlying etiological pathogenic mechanisms remain unknown. Diagnosis is established on the basis of imaging findings. We report two cases of hypothyroidism in adult females who had ectopic sublingual thyroid glands. The first patient was a 20-Year-old woman who had been treated for hypothyroidism since the age of 13 Years before the diagnosis of ectopic thyroid 7 Years later. In both patients, the thyroid gland was palpable. In the first patient the physical examination revealed an ectopic sublingual gland. Scintigraphy confirmed the diagnosis in both patients. The CT-scan and MRI were positive in the second patient. Hormonal substitution therapy using L-thyroixine was given.