Publications by authors named "Anne-Sophie Lambert"

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.

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Introduction: 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.

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Article Synopsis
  • This paper introduces a method for managing populations by analyzing healthcare consumption data from individuals aged 60-79, focusing on their healthcare trajectories in 2017.
  • The study identifies key aspects such as health event nature, transitions in care, duration of events, and event hierarchy through a K-mers and multinomial mixture modeling approach.
  • Five distinct population groups were found, which can help local governing bodies to better understand community health needs and improve decision-making by using routinely collected data effectively.
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Introduction: 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.

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  • Medical child abuse (MCA) is a serious issue where adults intentionally harm children’s health, and there is limited data on its occurrence in adolescents.
  • A study of 29 adolescents with suspected or confirmed MCA revealed significant medical wandering, with them visiting multiple hospitals and undergoing numerous tests, and most had underlying health issues.
  • MCA severely affects the quality of life, leading to high school dropout rates and a long delay in diagnosis, highlighting the need for better awareness and education among medical professionals.
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Introduction: 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.

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Objective: 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.

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  • - Despite conventional treatments, 40-50% of children with X-linked hypophosphatemia (XLH) still experience growth failure, prompting a study on the role of rhGH (recombinant human growth hormone) in improving their final height.
  • - A study analyzed two groups of children, one treated with rhGH and the other not, finding that rhGH significantly increased height measurements after 2 years, but final height was similar in both groups.
  • - The research concludes that rhGH can enhance final height in children with XLH and suggests it as a potential treatment option for those experiencing growth issues.
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Background: 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.

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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).

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Purpose: 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.

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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).

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Introduction: 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.

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Background/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.

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Objectives: 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.

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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.

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Background: 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.

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X-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.

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Background: 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.

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R1 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.

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Article Synopsis
  • - The study investigates how rising temperatures and copper (Cu) pollution affect the vulnerability of freshwater microbial communities, specifically phototrophic and heterotrophic periphyton.
  • - Microcosms with natural periphytic communities were exposed to different temperatures (18, 23, and 28°C) over four weeks, both with and without copper contamination, to assess the effects on microbial sensitivity to Cu toxicity.
  • - Results indicate temperature impacts microbial vulnerability differently based on their functions, highlighting the need to evaluate various functional aspects to predict the effects of multiple environmental stressors on aquatic ecosystems.
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  • 15q24 microdeletion and microduplication syndromes are genetic disorders linked to changes in the 15q24 chromosome, caused by non-allelic homologous recombination in specific low-copy regions.
  • Individuals with these syndromes can exhibit a range of symptoms, including distinct facial features and developmental delays, with microdeletion typically resulting in more severe anomalies than microduplication.
  • A case study of a 10-year-old girl revealed she had both a 15q24 microdeletion and a microduplication, leading to symptoms like developmental delays and epilepsy, suggesting complex genetic interactions influencing the range of clinical outcomes.
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Background: 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.

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  • Pollution-induced community tolerance (PICT) tests measure microbial communities' tolerance to toxicants, particularly in aquatic environments, but temperature can also influence these tolerance levels beyond just toxicant presence.
  • This study investigates how two different temperatures (18°C and 28°C) affect copper (Cu) tolerance in phototrophic periphyton, focusing on baseline tolerance, tolerance acquisition from chronic Cu exposure, and short-term toxicity responses.
  • Results show that temperature significantly impacts both the initial Cu tolerance levels and the ability of periphyton to develop new tolerance after chronic exposure, highlighting the need to factor in temperature when evaluating ecological risks using PICT.
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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.

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