A5061220021- Protein Tyrosine Phosphatases
- Galectins and Cancer Biology
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sexual Differentiation and Disorders
- Genomics and Rare Diseases
- Growth Hormone and Insulin-like Growth Factors
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- RNA modifications and cancer
- Genetic Syndromes and Imprinting
- RNA regulation and disease
- Genetics and Neurodevelopmental Disorders
- Genetic factors in colorectal cancer
- Immunodeficiency and Autoimmune Disorders
- Nuclear Structure and Function
- Gender Studies in Language
- Coronary Artery Anomalies
- dental development and anomalies
- Lysosomal Storage Disorders Research
- Digestive system and related health
- Cancer, Hypoxia, and Metabolism
- Neurology and Historical Studies
- Intestinal Malrotation and Obstruction Disorders
- Connective tissue disorders research
- Cardiovascular Disease and Adiposity
Azienda USL di Bologna
2022-2025
University of Bologna
2009-2024
Hudson Institute
2022
John Wiley & Sons (United States)
2022
Policlinico S.Orsola-Malpighi
2007-2020
Genomics (United Kingdom)
2016
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2007
University of Gothenburg
2007
Bambino Gesù Children's Hospital
2007
University of Modena and Reggio Emilia
2007
RASopathies, including Noonan syndrome and related disorders, are multisystem conditions caused by mutations in various genes encoding proteins involved the RAS/MAPK signaling pathway resulting increased signal flow. They clinically characterized failure to thrive, facial dysmorphisms, congenital heart defects, lymphatic malformations, skeletal anomalies, variable cognitive impairment, with prevalence different subtypes. Pubertal development, which affects growth final height, is often...
RASopathies are developmental disorders caused by heterozygous germline mutations in genes encoding proteins the RAS‐MAPK signaling pathway. Reduced growth is a common feature. Several studies generated data on growth, final height (FH), and velocity (HV) after hormone (GH) treatment patients with these disorders, particularly Noonan syndrome, most RASopathy. These studies, however, refer to heterogeneous cohorts terms of molecular information, GH status, age at start length therapy, dosage....
Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by growth deficiency, skeletal abnormalities, dysmorphic features, and intellectual disability. Causative mutations in CREBBP EP300 genes have been identified ∼55% ∼8% of affected individuals. To date, only 28 alterations 29 RSTS clinically described patients reported. analysis 22 CREBBP-negative from our cohort led us to identify six novel mutations: 376-kb deletion depleting gene; an exons 17-19...
KBG syndrome is an autosomal dominant disorder caused by pathogenic variants within ANKRD11 or deletions of 16q24.3 which include ANKRD11. It characterized distinctive facial features, developmental delay, short stature, and skeletal anomalies. We report 12 unrelated patients where a clinical diagnosis was suspected confirmed targeted analyses. Nine showed point mutation in (none were previously reported) 3 carried deletion. All presented with typical features macrodontia. Skeletal...
Many questions concerning Turner syndrome (TS) remain unresolved, such as the long-term complications and, therefore, optimal care setting for adults. The primary aim of this cohort study was to estimate incidence comorbid conditions along life course.A total 160 Italian patients with TS diagnosed from 1967 2010 were regularly and structurally monitored diagnosis December 2019 at University Hospital Bologna using a structured multidisciplinary monitoring protocol.The followed up median 27...
Growth hormone (GH) influences glucose homeostasis mainly by negatively affecting insulin sensitivity. To longitudinally study sensitivity [via model assessment of (HOMA-S)], secretion [insulinogenic index (IGI)], and capacity β cells to adapt changes in [oral disposition (ODI)] girls with Turner syndrome (TS) undergoing GH treatment. Longitudinal, retrospective, 7-year conducted a tertiary pediatric endocrine unit university clinic. We studied 104 patients TS (mean age ± standard deviation,...
Abstract Noonan‐like syndrome with loose anagen hair (NS/LAH or Mazzanti Syndrome) is caused by a single missense mutation in SHOC2 promoting t N ‐myristoylation of the encoded protein. Cardinal features include facial resembling NS, short stature often associated proven growth hormone deficiency (GHD), typical ectodermal anomalies, and distinctive behavior. Overall, clinical are more severe than those generally observed even though phenotype improves age. We report on pubertal trend seven...
Growth hormone (GH) influences glucose homeostasis by negatively affecting insulin sensitivity, leading to a compensatory increase in secretion. It has recently been reported, animals and humans, that GH might also stimulate secretion directly the growth function of pancreatic β-cells. The aim this work was longitudinally study sensitivity (HOMA-S), [insulinogenic index (IGI)] capacity β-cells adapt changes [oral disposition (ODI)] GH-deficient (GHD) children under treatment.We studied 99...
Pseudohypoparathyroidism (PHP) is a rare heterogeneous genetic disease characterized by end-organ resistance to parathyroid hormone. In adulthood, neurological and psychiatric disorders have been reported which are associated with hypoparathyroidism in general PHP particular, while for childhood, data scanty. We report case of boy type 1b, whom signs at the onset prevailed, tic-like dyskinesias series not well-defined behavioral features, describing diagnostic work-up performed follow-up....
BackgroundPatients with Turner’s syndrome are at risk of aortic dilation and dissection. Currently, it is not known whether such related to associated cardiovascular abnormalities, or the genetic anomaly itself.MethodsWe studied echocardiographically 107 patients genetically proven syndrome, heterogeneous underlying karyotypes, without cardiac lesions. Their average age was 19.6 plus minus 8.4 years. We compared finding those from 71 age-matched healthy female volunteers. The diameter aorta...
RASopathies are developmental disorders caused by dysregulation of the RAS-MAPK signalling pathway, which contributes to modulation multiple extracellular signals, including hormones and growth factors regulating energetic metabolism, lipid synthesis, storage, degradation.We evaluated body composition profiles a single-centre cohort 93 patients with molecularly confirmed diagnosis RASopathy assessing height, BMI, total cholesterol, HDL, triglycerides, apolipoprotein, fasting glucose, insulin...
Abstract Disclosure: S. Chen: Research Investigator; Self; Pfizer, Inc.. J. Bryce: None. M. G. Binder: Advisory Board Member; Ascendis, Ferring Pharmaceuticals, Ipsen, Novo Nordisk, Inc., Sandoz. Grant Recipient; Nordisk. Speaker; Lilly USA, LLC, Merck, C.S. Choong: T. Edouard: Biomarin, A. Fu: R. Horikawa: Hubbard: Lebl: Merck. L. Mazzanti: Romano: Consulting Fee; Shaikh: F. Tamburrino: Tamponi: P. Yger: Ahmed: GenSci. Ipsen. Jorge: Biomarin. Inc. Introduction: Recombinant human growth...
Noonan syndrome (NS, MIM 163950) is an autosomal dominant multisystem disorder which included among the RASopathies, and characterized by short stature, typical facial features multiorgan involvement. Autoimmune hepatitis a chronic necroinflammatory disease of liver, commonly hypergammaglobulinemia (Ig), circulating autoantibodies, compatible histological findings (interface hepatitis).
Background: Endocrine modifications at puberty, in particular the rise of Growth Hormone (GH) and Insulin Factor 1(IGF-1) , influence pharmacokinetics corticosteroids.This changes induce a decrease activity beta-HSD, enzyme which catalyzes interconversion cortisone to cortisol that prednisone prednisolone.Objective: To determine possible these puberty on exogenous corticosteroids.Methods: We studied (PO) prednisolone (POH) two groups children after single administration (0.5 mg/kg/weight...