174 results match your criteria: "Centre de Reference des Maladies Endocriniennes Rares de la Croissance[Affiliation]"

Ex vivo model for elucidating the functional and structural differentiation of the embryonic mouse thyroid.

Mol Cell Endocrinol

June 2020

Pediatric Immunology,Department of Biomedicine, University of Basel, 4058, Basel; Switzerland; Pediatric Endocrinology and Diabetology, University Children's Hospital Basel, University of Basel, 4056, Basel, Switzerland. Electronic address:

Terminal thyroid gland differentiation - the last developmental step needed to enable thyroid hormone (T4) synthesis - involves profound structural and biochemical changes in the thyroid follicular cells (TFCs). We aimed to develop an ex vivo thyroid model of embryonic mouse thyroid that would replicate the in vivo TFC differentiation program. E13.

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Socioeconomic Status of Newborns and Hospital Efficiency: Implications for Hospital Payment Methods.

Value Health

March 2020

AP-HP, Hôtel Dieu, URC Eco Ile-de-France, Paris, France; AP-HP, Hôpital Robert Debré, Unité d'Epidémiologie Clinique, Paris, France; Université de Paris, French National Institute of Health and Medical Research, Épidémiologie clinique et évaluation économique applique aux populations vulnérables, Paris, France; French National Institute of Health and Medical Research, Paris, France.

Objectives: Studies have shown a consistent impact of socioeconomic status at birth for both mother and child; however, no study has looked at its impact on hospital efficiency and financial balance at birth, which could be major if newborns from disadvantaged families have an average length of stay (LOS) longer than other newborns. Our objective was therefore to study the association between socioeconomic status and hospital efficiency and financial balance in that population.

Methods: A study was carried out using exhaustive national hospital discharge databases.

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Background: Male hypogonadism, arising from a range of etiologies including androgen-deprivation therapies (ADTs), has been reported as a risk factor for acquired long-QT syndrome (aLQTS) and torsades de pointes (TdP). A full description of the clinical features of aLQTS associated with ADT and of underlying mechanisms is lacking.

Methods: We searched the international pharmacovigilance database VigiBase for men (n=6 560 565 individual case safety reports) presenting with aLQTS, TdP, or sudden death associated with ADT.

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Background: Non-medical data, such as the amount of time that patients and caregivers spend managing their condition, may be relevant when assessing therapeutic strategies. For chronic pediatric conditions, the time that patients and caregivers spend in seeking and providing care (which are the indirect costs in an economic evaluation) can be significantly different depending on the treatment arm. To explore methods for collecting information on the care burden for caregivers and patients, we investigated whether a patient diary provided additional information compared to retrospective investigator-led interviews and whether a diary that was completed intermittently produced more or less information than a diary completed continually.

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Association of Pediatric Inpatient Socioeconomic Status With Hospital Efficiency and Financial Balance.

JAMA Netw Open

October 2019

Unité de Recherche Clinique en Économie de la Santé Eco Ile de France, Hôtel Dieu, Assistance Publique-Hôpitaux de Paris, Paris, France.

Importance: In health care systems in which hospital reimbursement is based on a national mean length of stay (LOS), disadvantaged patients with an increased LOS may be a source of inefficiency. This implication has been reported in adult patients, but pediatric data have been scarce.

Objective: To examine the association of patient socioeconomic status with hospital efficiency and financial balance in pediatrics.

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Triglycerides as a Metabolic Target in Afrocaribbean Infertile Women with Polycystic Ovary Syndrome.

Metab Syndr Relat Disord

December 2019

Department of Endocrinology-Diabetology, CHU de Guadeloupe, Pointe à Pitre, France.

Polycystic ovary syndrome (PCOS) is classically associated with insulin resistance, metabolic syndrome, or type 2 diabetes. Infertile Afrocaribbean (AC) women with PCOS may have metabolic features that could help to better target their management. To evaluate the characteristics of PCOS in this population and their metabolic profile to target the worst metabolic parameter.

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Clinical characterization of men with long QT syndrome and torsades de pointes associated with hypogonadism: A review and pharmacovigilance study.

Arch Cardiovasc Dis

November 2019

Inserm, UNICO-GRECO Cardio-Oncology Programme, Department of Pharmacology, CIC-1421, Pharmacovigilance Unit, Pitié-Salpêtrière Hospital, Sorbonne Université, AP-HP, 75013 Paris, France.

Background: Long QT syndrome (LQTS) can cause the potentially fatal ventricular tachycardia torsades de pointes (TdP). QT interval corrected for heart rate (QTc) is shorter in men than in women, with testosterone contributing to shorten QTc. We recently described male hypogonadism as a reversible risk factor for acquired LQTS and TdP, but the clinical characteristics of such patients have not been characterized.

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Background: Male hypogonadism, arising from a range of etiologies including androgen-deprivation therapies (ADTs), has been reported as a risk factor for acquired long-QT syndrome (aLQTS) and torsades de pointes (TdP). A full description of the clinical features of aLQTS associated with ADT and of underlying mechanisms is lacking.

Methods: We searched the international pharmacovigilance database VigiBase for men (n=6 560 565 individual case safety reports) presenting with aLQTS, TdP, or sudden death associated with ADT.

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Hyponatremia in children under 100 days old: incidence and etiologies.

Eur J Pediatr

September 2019

Assistance Publique-Hôpitaux de Paris (AP-HP), Department of Pediatric Endocrinology and Diabetology, and Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Hôpital Universitaire Robert-Debré, F-75019, Paris, France.

Hyponatremia is one of the most common electrolyte disorders in hospitalized children. The underlying mechanisms are poorly understood and potentially multifactorial, making management difficult, particularly in neonates. This retrospective study aimed to determine the incidence and etiologies of hyponatremia in hospitalized children under the age of 100 days, in our pediatric tertiary care hospital over a 1-year period.

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[Epidemiology of congenital hypothyroidism in France: recent data].

Biol Aujourdhui

January 2020

AP-HP, Hôpital Universitaire Robert Debré, Service d'Endocrinologie Diabétologie Pédiatrique, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement, Unité d'Epidémiologie Clinique, Université Paris Diderot, Sorbonne Paris Cité, INSERM UMR 1141, DHU Protect, 48 boulevard Sérurier, 75019 Paris, France.

Congenital hypothyroidism (CH) is the leading cause of preventable mental retardation. It is mainly due to thyroid dysgenesis or dyshormonogenesis with normally located gland, and detected at birth in developed countries, by mass biochemical screening of newborns. An increase in the incidence of congenital hypothyroidism with a normally located gland has been reported worldwide over the last three decades.

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Acromegaly.

Nat Rev Dis Primers

March 2019

Dipartimento di Medicina Clinica e Chirurgia, Sezione di Endocrinologia, University Federico II, Naples, Italy.

Acromegaly is characterized by increased release of growth hormone and, consequently, insulin-like growth factor I (IGF1), most often by a pituitary adenoma. Prolonged exposure to excess hormone leads to progressive somatic disfigurement and a wide range of systemic manifestations that are associated with increased mortality. Although considered a rare disease, recent studies have reported an increased incidence of acromegaly owing to better disease awareness, improved diagnostic tools and perhaps a real increase in prevalence.

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Turner syndrome (TS), affecting 1/2000 to 1/2500 live born girls, is a chromosomal aberration with a total or partial loss of one of the X chromosomes. The diagnosis can be established from the intra-uterine life to adulthood. TS is a chronic disease with particular morbidity and mortality.

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Article Synopsis
  • Pheochromocytomas and paragangliomas (PPGLs) often have a genetic component, with guidelines recommending genetic testing for all patients.
  • A study involving 221 patients examined the outcomes based on when they were informed of their genetic status, comparing those who were informed early (genetic patients) and those informed later (historic patients).
  • Results indicated that genetic patients had improved follow-up care, smaller new tumors, and better survival rates from metastases, highlighting the importance of timely genetic testing for better management of PPGLs.
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Aim: To compare the efficacy of three strategies for real-time continuous glucose monitoring (RT-CGM) over 12 months in children and adolescents with type 1 diabetes.

Methods: A French multicenter trial (NCT00949221) with a randomized, controlled, prospective, open, and parallel-group design was conducted. After 3 months of RT-CGM, patients were allocated to one of three groups: return to self-monitoring of blood glucose, continuous CGM (80% of the time), or discontinuous CGM (40% of the time).

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Objective: Short stature in children and adolescents may lead to social and emotional stress, with negative effects on quality of life (QoL). GH treatment may improve QoL through height normalization. Our objective here was to evaluate general and height-specific QoL after 1 year of GH treatment.

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Graves' disease and pregnancy.

Ann Endocrinol (Paris)

December 2018

Service de médecine nucléaire, hospices civils de lyon, groupement hospitalier Est, 69677 Bron cedex, France.

This section deals with the specificities of managing Graves' disease during pregnancy. Graves' disease incurs risks of fetal, neonatal and maternal complications that are rare but may be severe: fetal hyper- or hypothyroidism, usually first showing as fetal goiter, neonatal dysthyroidism, premature birth and pre-eclampsia. Treatment during pregnancy is based on antithyroid drugs alone, without association to levothyroxine.

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Context: There has been concern that GH treatment of children might increase meningioma risk. Results of published studies have been inconsistent and limited.

Objective: To examine meningioma risks in relation to GH treatment.

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Association of Oral Contraceptives With Drug-Induced QT Interval Prolongation in Healthy Nonmenopausal Women.

JAMA Cardiol

September 2018

Centres d'Investigation Clinique Paris-Est, Assistance Publique des Hôpitaux de Paris, Department of Pharmacology, Pitié-Salpêtrière Hospital, Paris, France.

Importance: Women are at higher risk of drug-induced torsade de pointes (TdP) than men. Androgens are protective. Influence of oral contraception on drug-induced TdP and QT prolongation is controversial.

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Over the past 20 years, the care for transgender adolescents has developed throughout many countries following the "Dutch Approach" initiated in the 90's in pioneer countries as the Netherlands, United States and Canada, with increasing numbers of children and adolescents seeking care in transgender clinics. This medical approach has considerable positive impacts on the psychological outcomes of these adolescents and several studies have been recently published underlining the relative safety of such treatments. This paper reviews the current standards of care for transgender children and adolescents with particular emphasis on disparities among countries and short to medium-term outcomes.

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Early central blood pressure elevation in adult patients with 21-hydroxylase deficiency.

J Hypertens

January 2019

AP-HP, IE3M, Hôpital Pitié-Salpêtrière, Department of Endocrinology and Reproductive Medicine, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Centre de Référence des Pathologies Gynécologiques Rares, ICAN.

Context: Controversial data exist on cardiovascular damages in patients with congenital adrenal hyperplasia (CAH).

Objective: To assess blood pressure and early cardiovascular damages on a large cohort of adult CAH patients and control individuals.

Design: Case-control study.

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Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?

Eur J Endocrinol

September 2018

Pediatric Endocrinology Department, CHU Robert Debré, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Assistance-Publique Hôpitaux de Paris and Université Paris Diderot, Sorbonne Paris Cité, Paris, France.

Article Synopsis
  • - The study investigates the clinical outcomes of boys with 45,X/46,XY mosaicism who have a normal or slightly abnormal male phenotype, focusing on their growth and puberty development from 1982 to 2017.
  • - Results show that many of these boys experience stunted growth and related health issues, with about 70% exhibiting features similar to Turner syndrome and most experiencing puberty but with declining testicular function.
  • - The findings highlight the importance of early diagnosis and continuous monitoring of these patients to manage potential fertility issues, as many are diagnosed later in life with conditions like azoospermia.
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Background: Glycemic variability (GV) can be used to assess glycemic control in diabetes, but there is no clear consensus concerning the methods to use for its assessment. Methodological differences have resulted in differences in the outcome of GV metrics used in research studies, controversies over clinical impact, and an absence of integration into routine care.

Aim: To identify the indicators of GV most meaningful for clinicians, patients, and clinical researchers.

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Increased risk of bone tumors after growth hormone treatment in childhood: A population-based cohort study in France.

Cancer Med

July 2018

Assistance Publique-Hôpitaux de Paris, Biostatistics and Epidemiology Unit, Hôtel Dieu, Paris, France.

The association between growth hormone (GH) treatment and cancer risk has not been thoroughly evaluated and there are questions about any increased risk of bone tumors. We examined cancer risk and especially bone tumor risk in a population-based cohort study of 6874 patients treated with recombinant GH in France for isolated GH deficiency, short stature associated with low birth weight or length or idiopathic short stature. Adult mortality and morbidity data obtained from national databases and from questionnaires.

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Background: Primary congenital hypothyroidism (CH) affects about 1:3000 newborns worldwide and is mainly caused by defects in thyroid gland development (thyroid dysgenesis [TD]) or hormone synthesis. A genetic cause is identified in <10% of TD patients. The aim was to identify novel candidate genes in patients with TD using next-generation sequencing tools.

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