Introduction: Requests for hormonal transition in minors are increasing. To date, there is no national recommendation to guide these practices in France. Therefore, the SFEDP (French Society of Pediatric Endocrinology and Diabetology) has commissioned a group of experts to draft the first national consensus on this topic.
View Article and Find Full Text PDFIntroduction: L'évaluation réaliste est de plus en plus plébiscitée dans le champ de la promotion de la santé. Pourtant, cette démarche d'évaluation est encore très peu utilisée par, ou même avec, des équipes de terrain, ce qui vient limiter sa portée pour les pratiques de terrain. Notre étude propose d'explorer les conditions favorables à la pratique de l'évaluation réaliste par des équipes de promotion de la santé.
View Article and Find Full Text PDFIntroduction: Serum calcium rapidly declines at birth because of the sudden interruption of the maternal-fetal calcium influx. Several factors are known to influence serum calcium in the first days of life, including circulating concentrations of maternal vitamin D. Objective was to establish the normal range variations of neonatal serum calcium according to the French current vitamin D supplementation during pregnancy, i.
View Article and Find Full Text PDFIntroduction: Congenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved in thyroid hormone production. The diagnostic yield of targeted next-generation sequencing (NGS) varied widely between studies. We hypothesized that the molecular yield of targeted NGS would depend on the severity of CH.
View Article and Find Full Text PDFObjective: Newborns with congenital hypogonadotropic hypogonadism (CHH) have an impaired postnatal activation of the gonadotropic axis. Substitutive therapy with recombinant gonadotropins can be proposed to mimic physiological male mini-puberty during the first months of life. The aim of this study was to compare the clinical and biological efficacy of two treatment modalities of gonadotropins administration during mini-puberty in CHH neonates.
View Article and Find Full Text PDFBackground: Little is known about the prevalence of people with chronic wounds cared for at home and their care integration needs in Belgium. In high-income countries, chronic wounds are associated with ageing processes, chronic diseases and social and financial vulnerability, resulting in multiple needs. To meet these needs, many health care providers (with nurses figuring prominently) are involved.
View Article and Find Full Text PDFAnn Endocrinol (Paris)
June 2022
Congenital hypogonadotropic hypogonadism (CHH) is a group of rare diseases characterized by inadequate secretion of the gonadotropins LH (luteinizing hormone) and FSH (follicle stimulating hormone) during the physiological activation periods of the gonadotropic axis. The disease? (anomaly) is present from fetal life and usually persists throughout life. Clinically, hypogonadotropic hypogonadism is associated with neonatal clinical signs (micropenis, cryptorchidism in boys in about half of the cases).
View Article and Find Full Text PDFPurpose: To examine the MRI diagnostic performance in the assessment of therapeutic response to burosumab in children with X-linked hypophosphatemia (XLH).
Design: Prospective longitudinal open cohort.
Patients: Seventeen children with XLH, average age of 10.
Background: The eastern Democratic Republic of Congo (DRC) has experienced decades-long armed conflicts which have had a negative impact on population's health. Most research in public health explores measures that focus on a specific health problem rather than overall population health status. The aim of this study was to assess the health status of the population and its predictors in conflict settings of South Kivu province, using the World Health Organization Disability Assessment Schedule (WHODAS).
View Article and Find Full Text PDFIntroduction: About 8% of children born small for gestational age (SGA) do not reach a final height within the normal range. Recombinant human growth hormone (rhGH) has been shown to be effective in increasing the final height in children born SGA. Our objective was to identify predictive factors of final height in children born SGA treated with rhGH.
View Article and Find Full Text PDFBackground/aim: X-linked hypophosphatemia (XLH) is a rare disease characterized by low phosphate levels. Scientific evidence points to a link between hypophosphatemia and obesity in general population. The aim of our longitudinal observational study was to investigate the prevalence of obesity and associated factors in a large cohort of children with XLH.
View Article and Find Full Text PDFObjectives: To assess patients' perceptions of continuity of care (COC) across primary care level and emergency departments (EDs) and to identify contextual and individual factors that influence this perception.
Design: Cross-sectional multicentre survey.
Setting: Five EDs in Brussels and Wallonia.
The methodological challenges to effectiveness evaluation of complex interventions has been widely discussed. Bottom-up case management for frail older person was implemented in Belgium, and indeed, it was evaluated as a complex intervention. This paper presents the methodological approach we developed to respond to four main methodological challenges regarding the evaluation of case management: (1) the standardization of the interventions, (2) stratification of the frail older population that was used to test various modalities of case management with different risks groups, (3) the building of a control group, and (4) the use of multiple outcomes in evaluating case management.
View Article and Find Full Text PDFBackground: Optimizing the organization of care for community-dwelling frail older people is an important issue in many Western countries. In Belgium, a series of complex, innovative, bottom-up interventions was recently designed and implemented to help frail older people live at home longer. As the effectiveness of these interventions may vary between different population groups according to their long-term care needs, they must be evaluated by comparison with a control group that has similar needs.
View Article and Find Full Text PDFX-linked hypophosphatemia (XLH), due to a PHEX gene mutation, is the most common genetic form of rickets and osteomalacia. Manifestations in children consist of rickets, lower-limb bone deformities, bone pain, failure to thrive, dental abscesses, and/or craniostenosis. Adults may present with persistent bone pain, early osteoarthritis, hairline fractures and Looser zones, enthesopathy, and/or periodontitis.
View Article and Find Full Text PDFBackground: The importance of viewing health from a broader perspective than the mere presence or absence of disease is critical at primary healthcare level. However, there is scanty evidence-based stratification of population health using other criteria than morbidity-related indicators in developing countries. We propose a novel stratification of population health based on cognitive, functional and social disability and its covariates at primary healthcare level in DR Congo.
View Article and Find Full Text PDFR1 The diagnosis of Graves' disease in children is based on detecting a suppression of serum TSH concentrations and the presence of anti-TSH receptor antibodies. 1/+++. R2 Thyroid ultrasound is unnecessary for diagnosis, but can be useful for assessing the size and homogeneity of the goiter.
View Article and Find Full Text PDFBackground: Classic Rett Syndrome (RS) is a disabling condition mainly caused by MECP2 mutations. Girls with RS are at risk of developing bone fragility and fractures at a young age which results in pain and may seriously impair quality of life.
Objective: To retrospectively assess the safety and efficacy of IV bisphosphonates on fracture, bone mineral density (BMD) and bone markers in RS girls with bone fragility.
Bone dysplasia is a large group that encompasses 436 rare diseases. Many of them are characterized by short stature or decreased growth velocity during puberty. The diagnosis of short stature due to skeletal dysplasia relies on (i) physical features such as disproportionate trunk/limbs, short limbs or extremities and/or stocky build, (ii) radiographic features to analyze mineralization, maturation and bone morphology, and (iii) whenever possible, the genetic characterization.
View Article and Find Full Text PDF