A5025830009- Growth Hormone and Insulin-like Growth Factors
- Bone health and treatments
- Genetic Syndromes and Imprinting
- Parathyroid Disorders and Treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Connective tissue disorders research
- Congenital heart defects research
- Lipid metabolism and disorders
- Williams Syndrome Research
- interferon and immune responses
- Hip disorders and treatments
- Alkaline Phosphatase Research Studies
- Genomics and Rare Diseases
- Magnesium in Health and Disease
- PI3K/AKT/mTOR signaling in cancer
- Childhood Cancer Survivors' Quality of Life
- Bone and Joint Diseases
- Bone Metabolism and Diseases
- LGBTQ Health, Identity, and Policy
- Hormonal Regulation and Hypertension
- Silkworms and Sericulture Research
- Apelin-related biomedical research
- Muscle and Compartmental Disorders
- Caveolin-1 and cellular processes
- Nutrition and Health in Aging
Assistance Publique – Hôpitaux de Paris
2022-2024
Medical University of Vienna
2012-2024
Université Paris-Saclay
2023-2024
Bicêtre Hospital
2022-2023
Universitätszahnklinik Wien
2021
St Anna Children's Hospital
2018
Adolescent Health Clinic
2016
Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study Europe (LIAISE; NCT03449368) aimed to quantify burden achondroplasia among individuals across broad range ages, including adults.Demographic, clinical and healthcare resource use data were collected from medical records patients enrolled 13 sites six European countries this retrospective, observational study....
Regulation of phosphate homeostasis is essential for mineralization and enchondral ossification. Fibroblast growth factor 23 (FGF23) its obligatory co-receptor Klotho (KL) play a key role in this process by influencing both renal reabsorption vitamin D metabolism. In disease, excessive action FGF23 leads to hypophosphatemic rickets, while deficiency causes tumoral calcinosis. Although osteocytes osteoblasts are widely seen as the primary source under physiological conditions, origin systemic...
Abstract Diagnosing and treating hypercalcemia during pregnancy can be challenging due to both the physiological changes in calcium homeostasis underlying cause for hypercalcemia. During lactation there is increased mobilization of mother meet fetus’ requirements. Here we discuss diagnostic challenges, management, patient perspective two particular cases other rare conditions causing
X-linked hypophosphatemia (XLH) is characterized by increased serum concentrations of fibroblast growth factor 23 (FGF23), and insufficient endogenous synthesis calcitriol. Beside rickets, odonto- osteomalacia, disproportionate short stature seen in most affected individuals. Vitamin D analogs phosphate supplements, i.e., conventional therapy, can improve especially when started early life. Recombinant human hormone (rhGH) therapy XLH children with has positive effects, although few reports...
Pseudohypoparathyroidism and related disorders belong to a group of heterogeneous rare diseases that share an impaired signaling downstream Gsα-protein-coupled receptors. Affected patients may present with various combination symptoms including resistance PTH and/or other hormones, ectopic ossifications, brachydactyly type E, early onset obesity, short stature cognitive difficulties. Several years ago we proposed novel nomenclature under the term inactivating PTH/PTHrP (iPPSD). It is now...
Previous studies have shown that only a minority of patients with Turner syndrome (TS) adequate medical care after transfer to adult care.To assess the status follow-up and quality life (QoL) in women diagnosed TS followed up until transfer. To compare subjective objective view initiate improvements based on patients' experiences current recommendations.39 out 64 contacted were seen for clinical laboratory check, cardiac ultrasound, standardized structured questionnaires (SF-36v2 Beck...
Abstract Objective Young women with Turner syndrome (TS) are known to be at risk for loss medical follow‐up. Recent literature indicates that there disparities regarding transition readiness between different chronic conditions. So far, studies in young TS investigating their compared youths other conditions no or minor neurocognitive challenges have not been reported. Methods Patients (n = 52), 26 patients (mean age 17.24 ± 2.10) and controls type 1 diabetes a rheumatic disease 17.41 2.44),...
Turner syndrome (TS) is a common genetic disorder in females with high incidence of ascending aortic dilatation and even dissection occurring as early the second decade. Known risk factors (RF) are bicuspid valves (BAV), coarctation aorta (CoA), arterial hypertension. Since 10% dissections occur patients without RF, an intrinsic wall abnormality has been postulated. This study aimed to investigate elasticity surrogate marker texture. Forty-six pediatric genetically proven TS were...
Abstract Objective Transfer from pediatric care into the adult health system is known to be a vulnerable phase in lives of youth with special needs (YSHCN). Recommendations literature favor assessment transition readiness rather than simply pass over YSHCN adult-centered by age 18. Nevertheless, no validated and disease neutral instrument German exists date. Hence, our aim was cross-culturally adapt pilot-test version Transition Readiness Assessment Questionnaire (TRAQ 5.0). We wanted...
A female infant was admitted to hospital due failure thrive. She presented hypercalcemia (4.09 mmol/L, normal range: 2.2-2.65 mmol/L), high 25-hydroxyvitamin D (283 nmol/L, 75-250 nmol/L), 1,25-dihydroxyvitamin in the upper range, and low parathyroid hormone. Vitamin intoxication suspected. The patient had received routine rickets prophylaxis.Williams-Beuren syndrome genetically excluded. Sequencing of CYP24A1 showed 2 mutations: c.443T>C c.1186C>T.The patient's clinical status improved...
Hypophosphatasia (HPP) is an inborn error of metabolism caused by loss-of-function mutations in the biomineralization-associated alkaline phosphatase gene, encoding tissue-nonspecific (TNSALP). Symptoms include skeletal hypomineralization and extra-skeletal manifestations such as pyridoxine (B6)-responsive seizures due to impaired cerebral B6 passage. Since introduction enzyme replacement therapy (ERT), B6-responsive were reported improve significantly. Nevertheless, there increasing...
Abstract Background Maternal inactivating GNAS mutations lead to pseudohypoparathyroidism 1A (PHP1A), newly classified as parathyroid hormone (PTH)/PTHrP-signaling disorder type 2 of maternal inheritance (iPPSD2). Patients present with resistance PTH and other hormones, subcutaneous ossifications, brachydactyly, short stature, early-onset obesity. They can be born small for gestational age (SGA) may growth (GH) deficiency. The use recombinant human GH (rhGH) therapy has been sporadically...
The aim of this study is to analyze height after cessation growth (final [FH]) and its evolution over the last decades in X-linked hypophosphatemia (XLH) patients France, as data on natural history FH XLH are lacking.We performed a retrospective observational large cohort French with available measurements.We divided into 3 groups according their birth year: group 1 born between 1950 1974, 2 1975 2000, 2001 2006, respectively, compared FHs.A total 398 were included. Mean FHs following: for...
A female toddler was diagnosed at age ten months with peripheral precocious puberty and hypercortisolism related to McCune Albright Syndrome additional systemic complications. We present the first successful, long-term use of metyrapone as suppositories, striking clinical biochemical improvement no side-effects.
<b><i>Background:</i></b> The acid-labile subunit (ALS) is a crucial factor in the tertiary complex. IGF-I and IGFBP-3 are routinely measured during diagnostic work-up for growth hormone deficiency (GHD). aim of study to evaluate relevance serum ALS as an additional biomarker diagnosis GHD. <b><i>Methods:</i></b> Ninety-one children undergoing standard GHD were included this retrospective study. Inclusion criteria evidence-based auxological...
Direct comparisons of both short-term and long-term auxological outcomes growth hormone therapy (GHT) between deficiency (GHD) small for gestational age (SGA) are scarce.