Preliminary national report on cystic fibrosis epidemiology in Tunisia: the actual state of affairs.

AIM: To establish a preliminary national report on clinical and genetic features of cystic fibrosis (CF) in Tunisian children as a first measure for a better health care organization. METHODS: All children with CF diagnosed by positive sweat tests between 1996 and 2015 in children's departments of Tunisian university hospitals were included. Data was recorded at diagnosis and during the follow-up from patients' medical records. RESULTS: In 12 departments, 123 CF children were collected. The median age at diagnosis was 5 months with a median diagnosis delay of 3 months. CF was revealed mostly by recurrent respiratory tract infections (69.9%), denutrition (55.2%), and/or chronic diarrhea (41.4%). The mean sweat chloride concentration was 110.9mmol/L. At least one mutation was found in 95 cases (77.2%). The most frequent mutations were Phe508del (n=58) and E1104X (n=15). Fifty-five patients had a Pseudomonas Aeruginosa chronic colonization at a median age of 30 months. Cirrhosis and diabetes appeared at a mean age of 5.5 and 12.5 years respectively in 4 patients each. Sixty-two patients died at a median age of 8 months. Phe508del mutation and hypotrophy were associated with death (p=0.002 and p<0.001, respectively). CONCLUSION: CF is life-shortening in Tunisia. Setting-up appropriate management is urgent.

[Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial]. / Le syndrome de Treacher Collins: aspects clinique et génétique à propos de 4 observations dont une familiale.

Treacher Collins syndrome was first mentioned by Thompson in 1847, and described by Treacher Collins in 1900, then it was called mandibulo-facial dysostosis and well defined by Franceschetti in 1949. It is a very rare affection occurring lin 50.000 live births, which includes facial and auricular anomalies leading to functional, morphological and psychological difficulties due to related handicaps. Treacher Collins syndrome is inherited as autosomal dominant pattern with a variable expressivity and incomplete penetrance of "TCOF1" gene localized at 5q31.3q32. Today the gene is well identified and several mutations have been reported. In this paper we report the case of 4 Tunisian unrelated girls with Treacher Collins syndrome. One of them was born from an affected father. Clinical diagnostic was performed between age 12 days and 2 years demonstrating the large dysmorphic expression. Main clinical features were present in all reported cases. Family at risk might have genetic counselling and probably prenatal diagnostic in some situations. Out of our observations, we gave genetic counselling and proposed ultrasound prenatal diagnosis for two families without molecular study.

Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.

PURPOSE: To study Bardet-Biedl syndrome (BBS) in the Tunisian population and determine the presence of triallelism in the eight identified BBS genes. METHODS: DNA samples were collected from 19 consanguineous Tunisian families with BBS. Genome-wide scans were performed with microsatellite markers in 12 families, and two-point linkage analyses were performed. Direct sequencing was used to screen patients with BBS for mutations in all eight identified BBS genes. RESULTS: Mutations in the BBS genes were identified in nine families. In addition, a large consanguineous family (57004) showed linkage to the BBS7 locus, although no mutation was identified. Five novel mutations were present in the nine families: one in BBS2 (c.565C>T, p.ArgR189Stop), one in BBS5 (c.123delA, p.Gly42GlufsX11), one in BBS7 (g.47247455_47267458del20004insATA, p.Met284LysfsX7), and two in BBS8 (c.459+1G>A, p.Pro101LeufsX12 and c.355_356insGGTGGAAGGCCAGGCA, p.Thr124ArgfsX43). CONCLUSIONS: All families in which mutations were identified show changes in both copies of the mutant gene, and inheritance patterns in all families are consistent with autosomal recessive inheritance excluding any evidence of triallelism in the BBS genes in Tunisia.

[Osteoarticular manifestations of sickle cell disease]. / Manifestations ostéo-articulaires de la drépanocytose.

Sickle cell disease is a genetic chronic anemia caused by existence of abnormal haemoglobin. Osteo articular manifestations are often observed in the evolution of the disease, and in some cases, they inaugur the disease. Authors discuss physio-pathological mechanisms and describe main osteoarticular signs of sickle cell disease.

Determination of chlorinated pesticides, polychlorinated biphenyls, and polybrominated diphenyl ethers in human milk from Bizerte (Tunisia) in 2010.

Thirty persistent organohalogen compounds including organochlorine pesticides (OCPs), polychlorinated biphenyls (PCBs), and polybrominated diphenyl ethers (PBDEs) were determined in breast milk samples (n=36) of primipara and multipara mothers from Bizerte in 2010. The analytical procedure involved the application of liquid-liquid extraction and gas chromatography with electron capture detector (GC-ECD) or mass spectrometry detector (GC-MS) for identification and quantification. Organohalogen compounds were found in all the analyzed samples, with predominance of p,p'-DDE, p,p'-DDT, p,p'-DDD, HCB and PCBs. The mean concentration of ∑DDTs in breast milk was 1163.9 ng g(-1) lipid wt. The ratio of p,p'-DDE/p,p'-DDT was low, suggesting that there is fresh intake of commercial DDT products in Bizerte. The mean levels of HCB and PCB were 286.8 and 331.2 ng g(-1) lipid wt respectively. These results were compared with the levels obtained in a previous study carried out in the same area in 2003. A general decrease of ∑DDTs levels and an increase of PCB levels were observed. Among the 10 PBDE congeners evaluated, BDE-28, BDE-47, BDE-99, BDE-66, BDE-138, BDE-100, BDE-154, BDE-153, and BDE-183 were detected in the analyzed samples at different frequency. The total PBDE concentrations ranged from 2.5 to 22.6 ng g(-1) lipid wt in the samples, with a mean and median value of 10.7 and 9.8 ng g(-1) lipid wt respectively. To our knowledge, this is the first data of PBDEs in Tunisian human milk. The present study shows that age and parity are factors influencing the levels of some organohalogen compounds in human milk.