Susceptibility markers in Tunisian first-degree relatives of patients with type 1 diabetes

To identify the profile of anti-pancreas autoantibodies and elucidate the HLA DRB1, DQB1 polymorphism in Tunisian first-degree relatives of patients with type 1 diabetes, we recruited 96 relatives from 21 families with at least one diabetic child. Islet cell antibodies (ICA) were detected by immunofluorescence on monkey pancreas; glutamate decarboxylase (GADA), IA2 (IA2-A) and insulin (IAA) antibodies were measured by RIA. HLA class II DRB1 and DQB1 alleles were typed by PCR-SSP. ICA, GADA, IA2-A and IAA were found in respectively 11.5, 4.2, 5.2 and 8.3% of relatives. Twenty-two out of 96 had at least one antibody and 20 out of these 22 had a susceptibility allele (DRB1*03, DRB1*04, DQB1*02 or DQB1*0302) with or without protective allele (DRB1*11, DRB1*13, DRB1*15 or DQB1*06). All of the 5 relatives having 2 autoantibodies or more carried the DRB1*04-DQB1*0302 susceptible haplotype. In conclusion, this observational study confirms in a Tunisian population known epidemiological data and demonstrates the usefulness of follow-up to determine the predictive value of studied markers.     

Fulminant mulch pneumonitis in a previously healthy child

Chronic granulomatous disease (CGD) is associated with multiple and recurrent infections. In patients with CGD, invasive pulmonary infection with aspergillus species remains the greatest cause of mortality. Acute fulminant presentations of fungal pneumonia are catastrophic. It is a medical emergency, and currently the treatment is based on association of corticosteroids and antifungal therapy. We describe the case of an 11-year-old boy, with late initial presentation of CGD, which was revealed by fulminant aspergillus pneumonia. He was successfully treated with an association of high doses of steroids and voriconazole.     

Aplasia cutis congenita of the scalp (5 observations)

Aplasia cutis congenita (ACC) is an uncommon congenital malformation. It is characterized by defects of the skin that occur most frequently on the scalp along the midline, but can also be localized on the trunk, face and limbs, usually with a symmetrical distribution. When it is localized in the skull, it can extend to the dura mater, with only the thin pia mater to protect the brain. PATIENTS AND METHODS: We report a retrospective study during a period of 10 years and we report 5 cases of ACCV hospitalized in the pediatric service in CHU Hédi Chaker and in maxillo-facial surgery service in CHU Habib Bourguiba, Sfax. We studied the epidemiologic, clinical, and therapeutic aspects in our patients. RESULTS: The average age at the admission was 5 days (2-8 days). A consanguinity was found in 2 cases. The clinical examination revealed cutaneous and osseous structures aplasia located in frontoparietal zone in 3 patients and in parieto-occipital zone in a patient. A hypoplasia of the toes was noted in 3 cases and a hypoplasia of the 3rd finger of the 2 hands in a case. Plain X-ray skull (3 cases) showed the osseous defect in all the cases. The cerebral IRM (2 cases) showed osseous and cutaneous defect in two cases and a lipome of the corpus callosum in one patient. A surgical repair using a cutaneous graft was performed for 3 patients. A patient died on the 16th day of life from a haemorrhage of the longitudinal sinus. The evolution was favourable in 4 cases with a cicatrisation of good quality but with subsequent alopecia. CONCLUSION: ACC of the scalp is a rare and often sporadic affection. Our experience confirms that fatal bleeding from the longitudinal sinus can occur during the 1st weeks of life.     

Effect of Kombucha tea on chromate(VI)-induced oxidative stress in albino rats

The effect of Kombucha tea (KT) on oxidative stress induced changes in rats subjected to chromate treatment are reported. KT feeding alone did not show any significant change in malondialdehyde (MDA) and reduced glutathione (GSH) levels, but did enhance humoral response and delayed type of hypersensitivity (DTH) response appreciably over control animals. Chromate treatment significantly enhanced plasma and tissue MDA levels, decreased DTH response considerably, enhanced glutathione peroxidase and catalase activities; however, no change in GSH, superoxide dismutase and antibody titres was noticed. KT feeding completely reversed the chromate-induced changes. These results show that Kombucha tea has potent anti-oxidant and immunopotentiating activities.     

Cystic fibrosis of the child

Cystic fibrosis was regarded a long time as exceptional in the Nord Africaine population and in particular in Tunisia what was at the origin of the ignorance of its various diagnostic and therapeutic aspects in our country. Nevertheless, with the development of the means of the diagnosis, several cases of cystic fibrosis were diagnosed these last years what will pose true problems of assumption of responsibility of these children like illustrates it well our experiment in the pediatric department of Sfax university hospital. In 10 years going of 1991 to 2000 we reported 7 cases of cystic fibrosis in the pediatric department of Sfax university hospital. Our patients are 3 boys and 4 girls. The age of revelation of the disease varied from 3 months to 14 years with 4 years and 10 months an average age. All our patients had a respiratory symptomatology in the foreground. The evolution was marked by the death of 4 patients at an average age of 5 years and half whereas the 3 surviving patients for the moment are more or less balanced on the nutritional level, digestive and respiratory. Cystic fibrosis is not exceptional in our area, its assumption of responsibility therapeutic is difficult, and it requires the collaboration of several experts and a good compliance of the child and of his family.     

Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates

Geographically isolated populations have been successfully used to localize genes for recessive inherited diseases, including non-syndromic sensorineural recessive deafness (NSRD). To date, 25 loci for NSRD have been localized on human chromosomes (DFNB loci), and six of the corresponding genes have been identified. Here, we report on the contribution of the DFNB1 locus (GJB2 gene) to NRSD in seven affected families living in three northern Tunisian geographic isolates, and we provide evidence for genetic heterogeneity within isolates. This finding challenges the classical view of a single 'founder' mutation segregating in such isolates.