Multilingual global e-learning pediatric endocrinology and diabetes curriculum for front line health care providers in resource-limited countries: Development study

Background: Electronic learning (e-learning) is a widely accessible, low-cost option for learning remotely in various settings that allows interaction between an instructor and a learner. Objective: We describe the development of a free and globally accessible multilingual e-learning module that provides education material on topics in pediatric endocrinology and diabetes and that is intended for first-line physicians and health workers but also trainees or medical specialists in resource-limited countries. Methods: As complements to concise chapters, interactive vignettes were constructed, exemplifying clinical issues and pitfalls, with specific attention to the 3 levels of medical health care in resource-limited countries. The module is part of a large e-learning portal, ESPE e-learning, which is based on ILIAS (Integriertes Lern-, Informations-und Arbeitskooperations-System), an open-source web-based learning management system. Following a review by global experts, the content was translated by native French, Spanish, Swahili, and Chinese-speaking colleagues into their respective languages using a commercial web-base

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism

Congenital hypogonadotropic hypogonadism (CHH) and its anosmia-associated form (Kallmann syndrome [KS]) are genetically heterogeneous. Among the >15 genes implicated in these conditions, mutations in FGF8 and FGFR1 account for ∼12% of cases; notably, KAL1 and HS6ST1 are also involved in FGFR1 signaling and can be mutated in CHH. We therefore hypothesized that mutations in genes encoding a broader range of modulators of the FGFR1 pathway might contribute to the genetics of CHH as causal or modifier mutations. Thus, we aimed to (1) investigate whether CHH individuals harbor mutations in members of the so-called "FGF8 synexpression" group and (2) validate the ability of a bioinformatics algorithm on the basis of protein-protein interactome data (interactome-based affiliation scoring [IBAS]) to identify high-quality candidate genes. On the basis of sequence homology, expression, and structural and functional data, seven genes were selected and sequenced in 386 unrelated CHH individuals and 155 controls. Except for FGF18 and SPRY2, all other genes were found to be mutated in CHH individuals: FGF17 (n = 3 individuals), IL17RD (n = 8), DUSP6 (n = 5), SPRY4 (n = 14), and FLRT3 (n = 3). Independently, IBAS predicted FGF17 and IL17RD as the two top candidates in the entire proteome on the basis of a statistical test of their protein-protein interaction patterns to proteins known to be altered in CHH. Most of the FGF17 and IL17RD mutations altered protein function in vitro. IL17RD mutations were found only in KS individuals and were strongly linked to hearing loss (6/8 individuals). Mutations in genes encoding components of the FGF pathway are associated with complex modes of CHH inheritance and act primarily as contributors to an oligogenic genetic architecture underlying CHH

Transcriptome, Methylome and Genomic Variations Analysis of Ectopic Thyroid Glands

Congenital hypothyroidism from thyroid dysgenesis (CHTD) is predominantly a sporadic disease characterized by defects in the differentiation, migration or growth of thyroid tissue. Of these defects, incomplete migration resulting in ectopic thyroid tissue is the most common (up to 80%). Germinal mutations in the thyroid-related transcription factors NKX2.1, FOXE1, PAX-8, and NKX2.5 have been identified in only 3% of patients with sporadic CHTD. Moreover, a survey of monozygotic twins yielded a discordance rate of 92%, suggesting that somatic events, genetic or epigenetic, probably play an important role in the etiology of CHTD.Journal ArticleResearch Support, Non-U.S. Gov'tValidation StudiesSCOPUS: ar.jinfo:eu-repo/semantics/publishe

Effects of selenium deficiency on thyroid hormone economy in the fetal, neonatal and adult rat: contribution to the understanding of T3 economy in the rat

Doctorat en sciences médicalesinfo:eu-repo/semantics/nonPublishe

Radionuclide imaging in primary permanent congenital hypothyroidism.

Thyroid scintigraphy was performed in 69 consecutive infants with permanent primary congenital hypothyroidism (CH) detected by systematic neonatal thyroid screening using a rectilinear scanner or a gamma camera 15 minutes after the intravenous injection of 250 microCi Tc-99m sodium pertechnetate, immediately after the infants were fed. Immobilization of the infant in a supine position with the neck in hyperextension was achieved by a vacuum cushion without any sedation. Thyroid scintigraphy showed thyroid ectopia in 43 of the 69 CH infants, thyroid agenesis in 19, and goiter in the last 7 infants, respectively. The images were easily interpretable in all cases, even in very small ectopic glands in the lingual area, as there was no interference with extra-thyroidal uptake of the tracer, especially by the salivary glands. Our experience indicates that thyroid scintigraphy in the CH newborns can be performed immediately at the time of diagnosis of CH without technical difficulties. As thyroid scintigraphy is the only procedure allowing the distinction between thyroid agenesis and ectopia, and as the neurointellectual prognosis might be lower in the former than in the latter situation, thyroid scintigraphy in CH newborns contributes not only to the diagnosis but also the prognosis of the disorder.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Pitfalls in the determination of human acylated ghrelin plasma concentrations using a double antibody enzyme immunometric assay

Objectives: To investigate the effect of hemolysis and protease inhibitors on acylated ghrelin (AG) concentrations measured with a double antibody enzyme immunometric assay that uses an acetylcholinesterase (AChE)-Fab’ conjugate. Design and Methods: Samples were hemolysed or treated with PHMB (phydroxymercuribenzoate), PMSF (phenylmethanesulfonylfluoride) or AEBSF (4-(2-Aminoethyl) benzenesulfonyl fluoride) to prevent AG degradation. Results: Hemolysis decreased AG concentrations. PHMB or PMSF did not affect the assay. The standard curve was abolished by AEBSF but rescued by addition of a washing step prior to the AChE-Fab' conjugate. Conclusions: Hemolysis and AEBSF may affect AG determination.Medicine, Faculty ofPediatrics, Department ofNon UBCReviewedFacult

Iodinated skin disinfectants in mothers at delivery and impairment of thyroid function in their breastfed infants

info:eu-repo/semantics/publishe

Selenium decreases thyroglobulin concentrations but does not affect the increased thyroxine-to-triiodothyronine ratio in children with congenital hypothyroidism

info:eu-repo/semantics/publishe

Selenium (Se) supplementation has no effect on peripheral thyroxine (T4) to triiodothyronine (T3) conversion: a prospective study in children with permanent congenital hypothyroidism (CH)

info:eu-repo/semantics/nonPublishe