Publications by authors named "Pascal Barat"

Background: During the perinatal period several maternal and obstetric risk factors are known to be associated with overweight and childhood obesity.

Method: The aim of this study was to determine the prevalence of risk factors for childhood obesity identifiable at birth. Data extracted from the computerized medical record (DXCARE) women who gave birth in the maternity ward of the University hospital of Bordeaux during a 11 months-period constituted an anonymized database to calculate the prevalence of the following risk factors: maternal obesity prior to pregnancy, excessive weight gain during pregnancy, maternal smoking, gestational diabetes, low socioeconomic status, cesarean delivery, macrosomia, and lack of breastfeeding.

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Context: Neonatal diabetes mellitus (NDM) is a rare condition usually related to an identifiable genetic cause. Sulfonylurea therapy can ensure metabolic control, obviating the need for insulin while also improving neurodevelopmental outcomes. An oral glyburide suspension (OGS; AMGLIDIA) designed for pediatric use was introduced recently to eliminate the drawbacks of using crushed tablets.

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We report the case of a three-year-old Senegalese child presenting with severe obesity and hyperphagia since birth. Despite normal birth parameters and non-consanguineous parents with average BMI, the child exhibited rapid weight gain, surpassing obesity thresholds before the age of one. Genetic analysis revealed a novel homozygous variant in the LEPR gene (c.

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Background: Poor glycemic control in patients with type 1 diabetes (T1D) is associated with greater social deprivation. However, the evidence is inconsistent in terms of the type of social deprivation (individual-level or area-level) and whether glycemic control changes over time. Here, we investigated the impacts of individual-level and area-level social deprivation on the glycated hemoglobin (HbA1c) trajectory from the time of T1D diagnosis.

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Context: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and is chiefly caused by thyroid dysgenesis (CHTD). The inheritance mode of the disease remains complex.

Objectives: Gain insight into the inheritance mode of CHTD.

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Background: The number of patients with type 2 diabetes (T2D) and type 1 diabetes (T1D) is on the rise, partly due to a global increase in new T1D cases among children. Beyond the well-documented microvascular and macrovascular complications, there is now substantial evidence indicating that diabetes also impacts the brain, leading to neuropsychological impairments. The risk of developing neuropsychiatric symptoms is notably higher in childhood due to the ongoing maturation of the brain, which makes it more susceptible to damage.

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Article Synopsis
  • * The French Endocrine Society and associated organizations created a reference document to address the complexities of managing these tumors, which can recur and lead to serious health issues, including impaired quality of life for patients, especially those with hypothalamic syndrome.
  • * Recent research has identified two tumor types—papillary and adamantinomatous—with different molecular signatures and treatment strategies, prompting ongoing developments in therapeutic options, including new medications for associated symptoms like hyperphagia.
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Hypopituitarism (or pituitary deficiency) is a rare disease with an estimated prevalence of between 1/16,000 and 1/26,000 individuals, defined by insufficient production of one or several anterior pituitary hormones (growth hormone [GH], thyroid-stimulating hormone [TSH], adrenocorticotropic hormone [ACTH], luteinizing hormone [LH], follicle-stimulating hormone [FSH], prolactin), in association or not with diabetes insipidus (antidiuretic hormone [ADH] deficiency). While in adults hypopituitarism is mostly an acquired disease (tumors, irradiation), in children it is most often a congenital condition, due to abnormal pituitary development. Clinical symptoms vary considerably from isolated to combined deficiencies and between syndromic and non-syndromic forms.

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Article Synopsis
  • - Aldosterone synthase deficiency (ASD) is a rare genetic condition causing a lack of aldosterone hormone, primarily seen in newborns and infants, leading to salt wasting, vomiting, and failure to thrive.
  • - Early diagnosis is crucial for effective treatment, which includes rehydration and supplementation of salt and fludrocortisone, along with hormone level tests.
  • - A case study is presented of a newborn with typical symptoms plus some unusual features, and genetic testing revealed a new variant of the CYP11B2 gene associated with ASD.
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Aims/hypothesis: Children with diabetes may display cognitive alterations although vascular disorders have not yet appeared. Variations in glucose levels together with relative insulin deficiency in treated type 1 diabetes have been reported to impact brain function indirectly through dysregulation of the hypothalamus-pituitary-adrenal axis. We have recently shown that enhancement of glucocorticoid levels in children with type 1 diabetes is dependent not only on glucocorticoid secretion but also on glucocorticoid tissue concentrations, which is linked to 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) activity.

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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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Background: Familial hypercholesterolemia (FH) is the most common genetic disorder associated with a high risk for premature atherosclerotic cardiovascular disease attributable to increased levels of LDL-cholesterol (LDL-C) from birth. FH is both underdiagnosed and undertreated.

Objective: We describe the clinical, biological, and genetic characteristics of 147 patients in France with clinical FH (including a group of 26 subjects aged < 20 years); we explore how best to detect patients with monogenic FH.

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Cushing's syndrome is defined by prolonged exposure to glucocorticoids, leading to excess morbidity and mortality. Diagnosis of this rare pathology is difficult due to the low specificity of the clinical signs, the variable severity of the clinical presentation, and the difficulties of interpretation associated with the diagnostic methods. The present consensus paper by 38 experts of the French Society of Endocrinology and the French Society of Pediatric Endocrinology and Diabetology aimed firstly to detail the circumstances suggesting diagnosis and the biologic diagnosis tools and their interpretation for positive diagnosis and for etiologic diagnosis according to ACTH-independent and -dependent mechanisms.

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Objective: Disturbances in the activity of the hypothalamus-pituitary-adrenal axis could lead to functional alterations in the brain of diabetes patients. In a later perspective of investigating the link between the activity of the hypothalamus-pituitary-adrenal axis and the developing brain in children with diabetes, we assessed here nocturnal cortisol metabolism in prepubertal children with type 1 diabetes mellitus (T1DM).

Methods: Prepubertal patients (aged 6-12 years) diagnosed with T1DM at least 1 year previously were recruited, along with matched controls.

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Potential discrepancies between laboratory and estimated (from Continuous Glucose Monitoring (CGM)) glycated hemoglobin (HbA1c) have been reported by diabetologists. CGM devices produce an eA1c derived from average glucose and correlated with Time-in-Range (TIR, %) which is the relative time spent in a range of normal glycaemia. Through a case report, we studied the potential causes for these discrepancies.

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To investigate the short-term effects of the first wave of COVID-19 on clinical parameters in children with type 1 diabetes (T1D) from 82 worldwide centers participating in the Better Control in Pediatric and Adolescent Diabete: orking to Crate Cners of Reference (SWEET) registry. Aggregated data per person with T1D ≤21 years of age were compared between May/June 2020 (first wave), August/September 2020 (after wave), and the same periods in 2019. Hierarchic linear and logistic regression models were applied.

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Objective: To elucidate the molecular cause in a well-characterized cohort of patients with Congenital Hypothyroidism (CH) and Dyshormonogenesis (DH) by using targeted next-generation sequencing (TNGS).

Study Design: We studied 19 well-characterized patients diagnosed with CH and DH by targeted NGS including genes involved in thyroid hormone production. The pathogenicity of novel mutations was assessed based on prediction tool results, functional studies when possible, variant location in important protein domains, and a review of the recent literature.

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Article Synopsis
  • The study focuses on the features and genetic factors of primary hyperparathyroidism (PHPT) in children, analyzing data from 63 cases over 20 years.
  • Infants often show milder and asymptomatic forms of PHPT, while older children exhibit more nonspecific symptoms, and about 52% of cases have a genetic basis.
  • Genetic mutations related to calcium-sensing are prevalent in infants, whereas mutations affecting parathyroid cell growth are more common in older children, highlighting different underlying mechanisms in various age groups.
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Objective: The effect of advanced carbohydrate counting (ACC) on metabolic and quality of life (QOL) outcomes is uncertain in children with type 1 diabetes. Our aim was to determine whether ACC would improve HbA1c and QOL scores as compared with standard nutrition in this population.

Methods: We randomized 87 patients using pump and rapid-acting analogs in a 1 year randomized multicenter study (age 9.

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Background: The nine French regional health networks for the prevention and care of paediatric obesity offer a 2-year program of multidisciplinary primary care (medical, dietetical, psychological, adapted physical activity) based on multicomponent lifestyle interventions.

Objectives: To assess the short-term and long-term impact of care management.

Methods: The impact of the multidisciplinary care was assessed by changes in the body mass index (BMI) Z score during the period of the care, and at least 2 years after the end.

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The diagnosis of Type 1 Diabetes (T1D) in ever younger children led us to question the impact of insulin deficiency or chronic hyperglycemia on cerebral development and memory performances. Here, we sought abnormalities in these traits in a model of streptozotocin-induced diabetes in juvenile rats treated or not by insulin. We made the assumption that such alterations would be related, at least in part, to excessive glucocorticoid exposition in hippocampal neurons.

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The French endocrinology society (SFE) and the French pediatric endocrinology society (DFSDP) have drawn up recommendations for the management of primary and secondary adrenal insufficiency in the adult and child, based on an analysis of the literature by 19 experts in 6 work-groups. A diagnosis of adrenal insufficiency should be suspected in the presence of a number of non-specific symptoms except hyperpigmentation which is observed in primary adrenal insufficiency. Diagnosis rely on plasma cortisol and ACTH measurement at 8am and/or the cortisol increase after synacthen administration.

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Aim: This study was to characterise respiratory and nonrespiratory sleep disorders in obese children and evaluate the diagnostic and therapeutic impact of a specific sleep consultation.

Methods: A descriptive study was conducted in obese French children who received multidisciplinary care management from the hospital centre for paediatric obesity in Bordeaux. This followed a specific sleep consultation between 2007 and 2015, because their paediatrician had identified symptoms suggestive of sleep disorders.

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