Cystadenocarcinoma of the gallbladder: A case report.

Introduction and importance: Cystadenoma and cystadenocarcinoma of the biliary duct remain a rare diagnosis, the localization is intrahepatic in 97% of the cases and extrahepatic in 3%of them [1]. Cystadenocarcinoma of the gallbladder is the rarest localization, it's usually diagnosed late because of the poor symptoms and the nonspecific lesions in the different imaging.Only hundreds of cases have been reported for cystadenocarcinoma of the gallbladder.This case report has been reported in line with the SCARE Criteria. Case presentation: We present a 70-year-old woman, with no family or personal history, who was complaining of pain in the right hypochondrium and an altered general well-being, with no other clinical abnormalities.The imaging including abdominal sonography, CT scan, and MRI concluded at a budding lesion formed in the gallbladder wall which measured 65 × 15mm.Cancer of the gallbladder was suspected and the patient was operated. A resection of segment s4b and 5 of the liver was performed with lymphadenectomy. The post-operative clinical course was uneventful.The diagnosis of cystadenocarcinoma of the gallbladder was confirmed on an anatomopathological exam of the specimen. Conclusion: Cystadenocarcinoma is a rare diagnosis.There are no specific symptoms or lesions at the imaging.The confirmation is obtained on an anatomopathological study of the specimen.

A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some ß3GalT6-pathy mutations.

Al-Gazali syndrome encompasses several clinical features including prenatal growth retardation, large joints contractures with camptodactyly, bilateral talipes equinovarus, small mouth, anterior segment anomalies of the eyes, and early lethality. Recently, a baby with features very similar to Al-Gazali syndrome was found to have compound heterozygous variants in B3GALT6. This gene encodes Beta-1,3-galactosyltransferase 6 (ß3GalT6), an essential component of the glycosaminoglycan synthesis pathway. Pathogenic variants in B3GALT6 have also been shown to cause Ehlers-Danlos syndrome spondylodysplastic type (spEDS-B3GALT6) and spondyloepimetaphyseal dysplasia with joint laxity type I (SEMD-JL1). In 2017, a new international classification of EDS included these 2 conditions together with the child reported to have features similar to Al-Gazali syndrome under spondylodysplastic EDS (spEDS). We report a disease-causing variant c.618C > G, p.(Cys206Trp) in 1 patient originally described as Al-Gazali syndrome and reported in 1999. We evaluated the involvement of the endoplasmic reticulum-associated protein degradation, in the pathogenesis of 13 B3GALT6 variants. Retention in endoplasmic reticulum was evident in 6 of them while the c.618C > G, p.(Cys206Trp) and the other 6 variants trafficked normally. Our findings confirm the involvement of B3GALT6 in the pathogenesis of Al-Gazali syndrome and suggest that Al-Gazali syndrome represents the severe end of the spectrum of the phenotypes caused by pathogenic variants in this gene.

[Better adaptation of the Tunisian adolescent health care system]. / Mieux adapter le système de soins tunisien à la santé des adolescents.

Classical health indicators are insufficient to account for adolescent health. With the majority of young people's health problems being linked to social and behavioural factors, the compartmentalised and biomedical approaches to their health are inept. Can the totality of adolescents' health needs receive an appropriate response in a health care system which articulates itself based upon a parceled vision of health? Health professionals seem to experience difficulties in situating themselves above the expressed symptom, and therefore become aware of the real needs linked to the emotional, familial and educational contexts and integrate a global, multi-disciplinary approach to adolescent and young adult health into their everyday practice. Their reduced consumption of care is not only linked to the fact that adolescents in general enjoy good health, but it is also linked to the difficulties of the health care system to recognise their true health needs. It thus emphasises the need to develop competencies in the field of adolescent health and organise the work in a multi-disciplinary network. In order to accomplish this, it is essential that the medical schools and public health schools offer a multi-disciplinary approach to adolescent health allowing for future health professionals to be able to address fields which are not uniquely bio-medically dependent. Furthermore, the regional medical study and university centres must evolve to become welcome centers and care centers for adolescents, adopting a multi-disciplinary approach going beyond the simple juxtaposition of diverse disciplines.