Failure to find evidence for deletion of LCE3C and LCE3B genes at PSORS4 contributing to psoriasis susceptibility in Tunisian families.

BACKGROUND: Recently, it has been shown that a deletion in the late cornified envelope (LCE) gene cluster (LCE3C_LCE3B-del) is associated with susceptibility to psoriasis in European and Asian populations. However, no study of this deletion has been performed in the North African population. The aim of the present study was to investigate whether this deletion is associated with familial psoriasis in Tunisian population. METHODS: A total of 34 patients and 55 healthy individuals were recruited from 7 multiplex families and a PCR assay was used to determine the association of this deletion. Its effect on susceptibility to psoriasis was assessed using the PDT program. RESULTS: We failed to detect any evidence of association between LCE3C_LCE3B-del and psoriasis in Tunisian families. No epistasic effect was found between the deletion and PSORS1 locus. CONCLUSIONS: These findings indicate that the LCE3C_LCE3B-del does not contribute in a major way to psoriasis susceptibility in Tunisian families.

Genome-wide linkage scan for psoriasis susceptibility loci in multiplex Tunisian families.

BACKGROUND: Psoriasis is a relapsing chronic inflammatory skin disease affecting all population groups, with a peak prevalence of 3% in northern European and Scandinavian caucasians. Epidemiological studies have implicated a genetic component to psoriasis. In the past 12 years multiple genome-wide linkage analyses have identified putative susceptibility loci on several chromosomes, with a major locus in the major histocompatibility complex region. OBJECTIVES: To investigate the genetic basis of familial psoriasis in the Tunisian population using a genome-wide linkage scan in seven ultiplex psoriatic families from Tunisia. METHODS: Following single nucleotide polymorphism (SNP) genotyping on the Affymetrix 10K SNP array, we performed nonparametric linkage (NPL) multipoint analyses to identify genotypes and obtain evidence for linkage with psoriasis across the genome. RESULTS: No chromosomal region gave consistent evidence for linkage, providing evidence for genetic heterogeneity in Tunisian psoriasis families. Significant evidence for linkage of psoriasis to chromosome 2p12 was seen in one family. We also identified several regions of tentative psoriasis linkage on chromosomes 2q, 4q, 6p, 11q, 12q, 9q and 13q. One family exhibiting suggestive evidence for linkage to 17q25 (PSORS2) was identified and all affected members harboured a p.Gly117Ser mutation in CARD14 (caspase recruitment domain family, member 14), recently reported to lead to psoriasis in a large family from the U.S.A. CONCLUSIONS: Our results support the genetic heterogeneity of psoriasis in the Tunisian population, provide confirmatory evidence for a novel psoriasis locus at chromosome 2p12 and reveal a psoriasis family with a mutation at PSORS2.

[Etiologic factors of urinary lithiasis in Tunisian children]. / Facteurs étiologiques de la lithiase urinaire de l'enfant en Tunisie.

Fifty-five Tunisian children with urinary stones, between the ages of 8 months and 15 years, underwent morphological and infrared spectrophotometric analysis of their stones. This study provides an approach to the aetiological profile of urinary stones in Tunisian children. The nucleus of the stones was composed of acidic ammonium urate in 48% of cases with a morphology suggestive of phosphorus deficiency associated with a history of diarrhoea. In 24% of cases, the nucleus contained struvite indicating the presence of urinary tract infection by urease-positive bacteria. The main growth factors of urinary stones were hyperoxaluria and urinary tract infection. In 5 cases, the stones were due to a hereditary lithogenic metabolic disease : cystinuria in 1 case and primary hyperoxaluria in 4 cases.

[Video-assisted thoracic surgery of hydatid cysts of the lung in children]. / La chirurgie thoracique vidéo-assistée des kystes hydatiques du poumon chez l'enfant.

10 children between 3 and 9 years old, have been operated on for an echinococcosis cyst of the lung, by a thoracoscopic procedure. It was a vomited cyst in 6 cases, a pyopneumocyst in 1 case, and a jung noncomplicated and univesicular cyst in 3 cases. The surgical procedure is described. We brought into being the operative conditions such it is nowadays an excellent alternative to the classical thoracotomy.

Post-traumatic pancreatic pseudocyst: non-operative conservative management--report on 3 cases.

The authors report on 3 cases of post-traumatic pancreatic pseudocysts in children. Complete healing occurred with non-operative conservative treatment and total parenteral nutrition. Daily follow-up with clinical evaluation, abdominal ultrasound and lab exams are detailed under definite criteria of selection and follow-up. This mode of treatment might be considered as an alternative to exploratory laparotomy and external drainage.

[An exceptional combined malformation: duplication of the lower urinary tract, the vulva and the posterior intestine]. / Une association malformative exceptionnelle: duplication du bas appareil urinaire, de la vulve et de l'intestin postérieur.

The authors report the case of a 6 year old girl with bladder duplication, urethral duplication, genital system duplication associated with colonic duplication and low double anorectal anomalies. This patient presented two hemivertebrae at T9 and T11. This girl died a few days after admission from internal obstruction and septicemia. The embryological features especially the possibility of associating two different embryopathogenic mechanisms in the pathogenesis of this combined malformation (Split notochord syndrome and fissure of the urogenital system), and diagnostic and therapeutic aspects are studied in relation to this case and a review of the literature.

[A retrospective study of 54 children hospitalized in the Department of Pediatric Surgery for suspicion of child abuse]. / Enquête rétrospective sur quarante-cinq enfants hospitalisés en chirurgie infantile pour suspicion de maltraitance.

Forty-five children admitted to the department of pediatric surgery at Strasbourg (France) from 1980 through 1989 were reported as being possible victims of abuse. The conditions of the hospital admission and nature of the injuries found are analyzed. On the basis of the data in the reports established by social workers and judicial authorities and in psychiatric expert evaluations, the social and familial characteristics of child abuse are defined. Although based on the demonstration of many elements pointing in the same direction, the diagnosis of child abuse remains fraught with difficulty.

Mesoblastic nephroma presenting as a haemorrhagic cyst.

Two cases of haemorrhagic renal cyst presenting in the neonatal period are described. Ultrasound examination, excretory urogram, and MRI, gave diagnosis in the second case. The remarkable histopathologic pattern of these two cases has led to propose correct diagnosis of pure cystic mesoblastic nephroma, an unusual variety of mesoblastic nephroma.

[Diagnostic and therapeutic strategy of bilateral nephroblastoma (apropos of 4 cases)]. / Stratégie diagnostique et thérapeutique des nephroblastomes bilatéraux (à propos de 4 cas).

Four cases of bilateral nephroblastoma out of a total number of 99 cases have been observed during a period of 18 years at the INSE of Tunis (4%). The frequency of associated anomalies, the familial incidence, the young age of the patients are underlined. The main therapeutic modalities are discussed. Based on the most recent studies published in the literature, the prognosis of bilateral nephroblastoma has been improved in recent years with a possibility of survival at 2 years exceeding two thirds of the cases.

[Hereditary nature of nephroblastoma. Apropos of a case of 3 siblings]. / L'hérédité du néphroblastome. A propos d'une fratrie de trois membres atteints.

Three nephroblastomas, including one bilateral tumour, have been detected in three children belonging to the same family and born from a consanguinous marriage. The clinical and diagnostic particularities compared to non familial "sporadic" nephroblastomas are studied. The pathogenesis with the incidence of chromosomal anomalies, the diagnosis and the frequency of bilateral diseases along with the associated deformities and a non invasive therapeutic attitude are discussed.