A novel large deletion in CCM1 gene in a Tunisian family.

Familial CCM is a rare entity associated with the mutation of three genes: CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10). We report here the first description of a Tunisian familial CCMs composed of six members. The father and two daughters were affected and symptomatic. The two other kindred were healthy. Surgical treatment was performed in only one affected patient. Molecular analysis of KRIT1, MGC4607 and PDCD10 genes identified a large KRIT1 deletion of the first ten exons. To the best of our knowledge, this large deletion has never been reported before.

[Pediatric Crohn's disease in Tunisia]. / La maladie de Crohn de l'enfant en Tunisie.

UNLABELLED: Crohn's disease occur mainly in adults. However, pediatric onset forms are not rare and have many characteristics. AIM: to study clinical, diagnostic, therapeutic and evolutive characteristics of crohn's disease in tunisian children. METHODS: Retrospective multicenter study conducted in 10 pediatric departments on a period of 10 years (2000-2008) RESULTS : 43 children were included. The sex-ratio was 1.68. The mean age at the onset of the symptoms was 11+/-2.3 years (5-16 years). The age of onset was inferior to 10 years in 25 % of the children. The delay before management was superior to 1 year in 25% of cases. The initial symptoms were dominated by diarrhea (95%). Perineal manifestations were present at diagnosis in 30% of children and extra-digestive manifestations in 53%. Ileocolonic localization was the most frequent (46%). The initial disease flare was moderate in 83% of cases. The treatment was medical in 77 % of cases, nutritional and medical in 18.5%. Maintenance therapy was instituted in 86% of cases and consisted essentially in azathioprin (62%). The mean follow-up was 3 years and 4 months. 60% of the children had at least one acute flare. During evolution, 7% of children had anoperineal surgery and 11% an intestinal resection. CONCLUSION: Crohn's disease seems rare in Tunisia. The time of diagnosis is often delayed. The management is based on immunosuppressive therapy and nutritional support.

[Evolution of group A Rotavirus strains circulating in Tunisia over a 3-year period (2005-2007)]. / Évolution des souches de Rotavirus du groupe A en circulation en Tunisie sur une période de trois ans (2005-2007).

BACKGROUND: Rotaviruses are the most frequent agents associated with diarrhoea in children worldwide. Analysis of mobility of the 11 segments of genomic RNA by polyacrylamide gel electrophoresis (PAGE) yields a pattern which is characteristic for a particular rotavirus isolate. The group A rotaviruses can be further characterized by analysis of VP7 and VP4 genes specificities, responsible for rotavirus classification into G and P genotypes, respectively. The aim of the present study was to determine the evolution of group A Rotavirus strains circulating in Tunisia over a 3-year period (2005-2007). MATERIAL AND METHODS: A total of 1503 stool samples collected from children less than five years old, consulting or hospitalised in Tunisia for diarrhoea between 2005 and 2007, were screened for the presence of group A Rotaviruses. Rotavirus-positive specimens were further analyzed by PAGE and G/P-genotyped by multiplex semi-nested RT-PCR. RESULTS: Rotaviruses were detected in 323 stool samples over 1503 (21 %). Long electropherotypes predominated in Tunisia during the whole period of study (N=158 vs N=82 short electropherotypes). VP7 genotyping showed the cocirculation of five different genotypes: G1, G2, G3, G4 and G9. VP4 typing detected four different P-genotypes: P[8], P[4], P[6] and P[11]. Rotavirus strains with G3P[8] specificity were predominating in Tunisia in 2005 and 2006, replaced by G2P[4] strains in 2007.

Relationship between electropherotypes and VP7/VP4 genotypes of group A rotaviruses detected between 2000 and 2007 in Tunisian children.

BACKGROUND: Rotaviruses are the most frequent agents associated with diarrhoea in children worldwide. Analysis of mobility of the 11 segments of genomic RNA by polyacrylamide gel electrophoresis (PAGE) yields a pattern which is characteristic for a particular rotavirus isolate. The group A rotaviruses can be further characterized by analysis of VP7 and VP4 genes specificities, responsible for rotavirus classification into G and P genotypes, respectively. The aim of the present study was to detect a relationship between electropherotype pattern and molecular characteristics of the rotavirus strains. MATERIAL AND METHODS: Were analyzed 278 rotavirus-positive specimens by PAGE and G/P-genotyped by multiplex semi-nested RT-PCR. Pearson's correlation tests were used for statistical analysis. RESULTS: Twelve different electropherotypes were visualized, eight with a long profile (186 cases) and four with a short one (87 cases). Concerning VP7 types, G2 viral strains were found to be predominant and were detected in 91 specimens (32.7%). Strains with G1, G3, G4, G8 and G9 specificities were detected in 62 (22.3%), 82 (29.5%), 13 (4.7%), two (0.7%) and seven cases (2.5%), respectively. The results of VP4 genotyping showed a predominance of P[8] genotype which comprised half of the strains identified (139 cases, 50%). VP4 P[4], P[6] and P[11] were found in 83 (29.9%), 31 (11.1%) and 11 (4.0%) specimens, respectively. A high rate of mixed strains was also found (1.8% mixed electropherotypes, 7.6% G-mixed and 5% P-mixed strains). Electropherotype pattern of rotavirus strains was significantly correlated with VP7 genotype (p=0.018) and with VP4 genotype specificities (p<0.001).

[Interventional endoscopy in the gastrointestinal tract in children]. / Activité endoscopique digestive interventionnelle chez l'enfant.

BACKGROUND: Interventional endoscopic procedures involving the gastrointestinal (GI) tract in children are very common. Over the last several years the number of procedures in this area has steadily increased. AIM: To study indications and results of GI interventional endoscopies performed in a Pediatric GI unit. METHODS: Retrospective study over a period of 10 years (1999-2008). Data were collected from endoscopic files. All procedures were performed endoscopically under general anesthesia. RESULTS: 185 interventional endoscopic procedures were done during this period in 96 patients (58 boys) median age: 4.9±4.7 years (1 month-13 years). Indications were as follows: esophageal stenosis (n=46; 47.9%), rectal polyp resection (n=21; 19.8%), esophageal varices ligation (n=19; 19.7%), foreign body extractions (n=8; 8.3%) and percutaneous endoscopic gastrostomy (n=2; 2.1%). One hundred and thirteen esophageal dilations (61.1% of procedures) were performed in 46 patients: caustic stenosis (n=22; 22.9%), peptic stenosis (n=13; 13.5%) and anastomotic stenosis (n=11; 11.4%). CONCLUSION: The main indication of interventional GI endoscopy in this series was oesophageal stenosis followed by rectal polyp resection, esophageal varices ligation and foreign body extractions.

Perianal presentation of Langerhans cell histiocytosis in children.

Langerhans cell histiocytosis, previously known as histiocytosis X, is a disease whose clinical presentation varies. Although it is uncommon, Langerhans cell histiocytosis may involve the perianal region. We report the case of a 2-year-old boy who presented with perianal ulcerated vegetative lesions and seborrheic dermatitis of the scalp. Biopsy of the lesions showed Langerhans cell histiocytosis. This patient did not have any other organ involvement, which is rare. The outcome was favourable with vinblastine and corticoids.

Skin permeation and distribution of two sunscreens: a comparison between reconstituted human skin and hairless rat skin.

The aims of this work were (a) to develop a simple and reproducible procedure for percutaneous absorption and distribution tests of sunscreens using one human skin culture model (Epiderm 606; reconstructed epidermis, RE), (b) to compare the said model with rat skin (RS) in vitro and (c) to evaluate the effect of different formulations. The cutaneous permeation and distribution of two UV filters, ethylhexylmethoxycinnamate (MC80) and ethylhexyltriazone (T150), using 3 different vehicles were investigated. The permeation studies demonstrated that neither MC80 nor T150 permeated through both RS and RE in spite of different thicknesses of the 2 substrates. Distribution studies demonstrated that sectioning by cryomicrotome to obtain horizontal skin layers was suitable for both RS and RE (apart from its small thickness) with a good reproducibility of data. The amounts of sunscreens retained in the 2 substrates were in the same order of magnitude for all formulations with a greater depot in RS. Different distribution profiles of the tested formulations could be ascribed to the different lipid compositions of RE and RS. Since the physicochemical characteristics of RE are closer to those of human skin, the results obtained with reconstructed human skin models could be suitable to replace human skin in 'in vitro testing'.