A5047654183- Bone health and treatments
- Kidney Stones and Urolithiasis Treatments
- Parathyroid Disorders and Treatments
- Obesity, Physical Activity, Diet
- Vitamin D Research Studies
- Renal function and acid-base balance
- Medical Imaging and Pathology Studies
- Bone health and osteoporosis research
- Genetic Syndromes and Imprinting
- Diet and metabolism studies
- Therapeutic Uses of Natural Elements
- Thyroid Disorders and Treatments
- Sexual Differentiation and Disorders
- Sodium Intake and Health
- Growth Hormone and Insulin-like Growth Factors
- Birth, Development, and Health
- Hypothalamic control of reproductive hormones
- Bariatric Surgery and Outcomes
- Bone and Joint Diseases
- Cardiovascular Disease and Adiposity
- Bone Tumor Diagnosis and Treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Fibroblast Growth Factor Research
- Biomedical Research and Pathophysiology
- Adipokines, Inflammation, and Metabolic Diseases
Hôpital Robert-Debré
2020-2025
Assistance Publique – Hôpitaux de Paris
2015-2025
Bicêtre Hospital
2012-2025
Université Paris Cité
1996-2024
University of Catania
2024
NeuroDiderot
2022
Inserm
1996-2022
Azienda Ospedaliera G.Rummo
2005-2021
French Clinical Research Infrastructure Network
2020-2021
Centre National de la Recherche Scientifique
2021
The pathways leading to female sexual determination in mammals are incompletely defined. Loss-of-function mutations the WNT4 gene appear cause developmental abnormalities of differentiation women and mice. We recruited six patients with different degrees Müllerian abnormalities, or without renal aberrations a normal 46,XX karyotype. A clear androgen excess was found only one patient. This 19-year-old woman affected by primary amenorrhoea, absence ducts derivatives, clinical (acne hirsutism)...
Idiopathic central precocious puberty (iCPP) is defined as early activation of the hypothalamic-pituitary-gonadal axis in absence identifiable lesions. Mutations makorin RING finger 3 (MKRN3) gene are associated with iCPP. We aimed to assess frequency MKRN3 mutations iCPP and compare phenotypes patients without mutations.An observational study was carried out on recruited at pediatric hospitals France Italy. Forty-six index CPP cases were screened for coding sequence: 28 familial 18 did not...
Background. Metabolic syndrome (MetS) and nephrolithiasis (NL) are quite common disorders. While some of the components MetS have been proposed as precursors NL in population studies, no data available about possible association between such. The primary objective study was to evaluate relationship NL. secondary outcome examine single constitutive elements considering strict correlation occurring among these factors. Methods. We studied 2132 Caucasian inpatients 'Spinelli' Hospital southern...
Objective FSH, via its receptor (FSHR), influences bone remodeling and osteoclast proliferation activity. The aim of this study was to evaluate the influence two single nucleotide polymorphisms (SNPs) FSHR gene on mineral density (BMD) turnover markers (bone alkaline phosphatase type I collagen C-telopeptides) in postmenopausal women. Methods Two hundred eighty-nine unrelated women were genotyped for SNPs rs1394205 rs6166. BMD estimated using dual-energy X-ray absorptiometry quantitative...
Hypertension is the leading cause of death in developed countries and reduction salt intake recommended as a key preventive measure.To assess dietary sodium potassium intakes national sample Italian children adolescents to examine their relationships with BMI blood pressure (BP) framework MINISAL survey, program supported by Ministry Health.The study population included 1424 healthy subjects (766 boys, 658 girls) aged 6-18 years (mean age: 10.1±2.9) who were consecutively recruited...
Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome absent from some cells. It affects approximately every 1/2500 liveborn girls. The most frequently observed karyotypes are 45,X (40-50%) and the 45,X/46,XX mosaic karyotype (15-25%). Karyotypes with an isochromosome (45,X/46,isoXq 45,X/46,isoXp), Y chromosome, ring deletions less frequent. objective French National Diagnosis Care Protocol (PNDS; Protocole de Diagnostic et Soins) to provide health...
Even though SQSTM1 gene mutations have been identified in a consistent number of patients, the etiology Paget's disease bone (PDB) remains part unknown. In this study we analyzed 533 608 consecutive PDB patients from several regions, including high-prevalence area Campania (also characterized by increased severity PDB, higher familial cases, and peculiar phenotypic characteristics as giant cell tumor). Eleven different (Y383X, P387L, P392L, E396X, M401V, M404V, G411S, D423X, G425E, G425R,...
Abstract Obesity is a heterogeneous disease with many different subtypes. Epigenetics could contribute to these differences. The aim of this study was investigate genome-wide DNA methylation searching for marks associated obesity in children and adolescents. We studied profiles whole blood cells from 40 obese controls using Illumina Infinium HumanMethylation450 BeadChips. After correction cell heterogeneity multiple tests, we found that compared lean controls, 31 CpGs are differentially...
Abstract Context Unlike homozygous variants, the implication of heterozygous variants on leptin–melanocortin pathway in severe obesity has not been established. Objective To describe frequency, phenotype, and genotype–phenotype relationship for LEP, LEPR, POMC, PCSK1 obesity. Methods In this retrospective study, genotyping was performed at least 1 genes 1486 probands with (600 children, 886 adults). The phenotype collected 60 subjects 16 variants. We analyzed variant body mass index (BMI),...
ABSTRACT Patients with Paget's bone disease (PDB) have an increased risk of developing giant cell tumor (GCT). This study was performed to evaluate the clinical characteristics and evolution GCT complicating PDB compare these those observed in two large cohorts, Italian Registry United Kingdom's Multi-Centre Randomised Controlled Trial Symptomatic Versus Intensive Bisphosphonate Therapy for Disease (PRISM) study. A systematic literature review identified 117 cases complicated by (PDB-GCT),...
The analysis of 236 Italian patients with Paget's bone disease showed higher clinical severity and greater frequency neoplastic degeneration among who live or descend from individuals living in the Campania region (southern Italy). A prevalent involvement spine skull, sites preferentially involved giant cell tumors complicating disease, was also shown familial cases this geographical region.The southern Italy has been recently indicated as a high prevalence area for (PDB), most pagetic...
Abstract Background Paget's disease of the bone (PDB) is a metabolic disorder involving one or more skeletal sites. Cardiovascular diseases (CVDs) have been described in patients with PDB but not systematically analysed. Objectives This study aimed to compare standard and advanced (speckle‐tracking) echocardiographic parameters measured controls matched for age, weight, height history hypertension without disorders. Methods multicentre case–control included all referred Federico II Siena...
Abstract Context: Nephrolithiasis affects about 10% of the population in industrialized countries, with calcium salts composing more than 80% renal stones. A significant percentage patients nephrolithiasis and normal parathyroid function show hypophosphatemia reduced phosphate reabsorption (i.e. a leak). Objectives: The objective study was to compare serum levels fibroblast growth factor 23 (FGF23), regulator homeostasis, 110 recurrent stone formers or without leak, six affected by X-linked...
Abstract Mutations in the SQSTM1 gene were identified as a common cause of Paget's disease bone (PDB) but experimental evidence demonstrated that mutation is not sufficient to induce PDB vivo. Here, we two nonsynonymous single nucleotide polymorphisms (SNPs) (C421T, H141Y and T575C, V192A) TNFRSF11A gene, associated with severity phenotype large population 654 unrelated patients previously screened for mutations. The largest effect was found T575C variant, yielding an odds ratio 1.29 (p =...
Hypophosphatasia (HPP) is a rare and highly variable genetic disorder of metabolism characterized by markedly reduced serum alkaline phosphatase (ALP) activity as result defective production tissue-non-specific (TNSALP). HPP known to affect fetuses in utero also neonates, children, adults. Severity ranges significantly, from lethal mild clinical presentations include rickets or osteomalacia, osteoporosis, respiratory failure seizures. Odontohypophosphatasia has only dental manifestations....
In juvenile IDDM patients, immunosuppression with cyclosporin A allows partial beta-cell function recovery and transient remissions of insulin dependency. The effects this therapeutic approach, however, have not been evaluated in the long-term, since no reported trial exceeded 1 year. Here we analyze 130 diabetic children followed at our institution during first years their disease. Cyclosporin was given to 83 them an initial dose 7.2 ± 0.1 mg·kg−1·day−1, which decreased stepwise then...