New description of Toxoplasma gondii genotypes from French Polynesia.

We report here the first isolation and genotyping of two human Toxoplasma gondii strains from French Polynesia. The parasites had new and atypical genotypes, and were responsible for asymptomatic congenital toxoplasmosis. Both genotypes were divergent from the common strains isolated in Europe, North America, South America, Africa and China.

Inlet patch: clinical presentation and outcome in children.

OBJECTIVES: An inlet patch (IP) is defined as heterotopic gastric mucosa located in the proximal esophagus. Little information is available in children. The aim of this retrospective study was to assess clinical significance, endoscopic and histological characteristics, and natural history of IP in children. PATIENTS AND METHODS: This retrospective multicenter study included all of the cases of IP recorded in 7 tertiary French pediatric gastrointestinal centers. Information about demographics, clinical symptoms, endoscopic characteristics, histology, treatment, and evolution was collected. RESULTS: Fifteen children were included (8 boys, 7 girls). The median age at diagnosis was 9.5 years (range 3.3-15 years). Five children had esophageal atresia and 9 had gastroesophageal reflux. Only 1 child was asymptomatic. Digestive symptoms (dysphagia, food impaction) were noted in 14 patients and respiratory or ear, nose, and throat symptoms in 6. At endoscopy, IP was characterized by a small, round salmon-pink lesion of the proximal esophagus. Helicobacter pylori was found in 2 patients. Proton pump inhibitor treatment was initiated in 14 children for a mean duration of 4.7 months (range 1-12 months). Two patients were lost to follow-up. Clinical symptoms disappeared in 5 patients and decreased in 3 others. One case of hematemesis was noted after a mean follow-up of 9 months. Recurrent symptoms were noted in 2 patients after treatment discontinuation. CONCLUSIONS: IP is an uncommon but almost certainly underrecognized lesion in children, and may be the cause of digestive and respiratory symptoms in some children.

Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease).

BACKGROUND: Anderson's disease (AD) or chylomicron retention disease (CMRD) is a very rare hereditary lipid malabsorption syndrome. In order to discover novel mutations in the SAR1B gene and to evaluate the expression, as compared to healthy subjects, of the Sar1 gene and protein paralogues in the intestine, we investigated three previously undescribed individuals with the disease. METHODS: The SAR1B, SAR1A and PCSK9 genes were sequenced. The expression of the SAR1B and SAR1A genes in intestinal biopsies of both normal individuals and patients was measured by RTqPCR. Immunohistochemistry using antibodies to recombinant Sar1 protein was used to evaluate the expression and localization of the Sar1 paralogues in the duodenal biopsies. RESULTS: Two patients had a novel SAR1B mutation (p.Asp48ThrfsX17). The third patient, who had a previously described SAR1B mutation (p.Leu28ArgfsX7), also had a p.Leu21dup variant of the PCSK9 gene. The expression of the SAR1B gene in duodenal biopsies from an AD/CMRD patient was significantly decreased whereas the expression of the SAR1A gene was significantly increased, as compared to healthy individuals. The Sar1 proteins were present in decreased amounts in enterocytes in duodenal biopsies from the patients as compared to those from healthy subjects. CONCLUSIONS: Although the proteins encoded by the SAR1A and SAR1B genes are 90% identical, the increased expression of the SAR1A gene in AD/CMRD does not appear to compensate for the lack of the SAR1B protein. The PCSK9 variant, although reported to be associated with low levels of cholesterol, does not appear to exert any additional effect in this patient. The results provide further insight into the tissue-specific nature of AD/CMRD.