A5068852387- Growth Hormone and Insulin-like Growth Factors
- Liver Disease Diagnosis and Treatment
- Hypothalamic control of reproductive hormones
- Diet, Metabolism, and Disease
- Regulation of Appetite and Obesity
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sexual Differentiation and Disorders
- Genetic Syndromes and Imprinting
- Adipose Tissue and Metabolism
- Nuclear Structure and Function
- Thyroid Disorders and Treatments
- Biochemical Analysis and Sensing Techniques
- Hepatitis C virus research
- Parathyroid Disorders and Treatments
- Neuroblastoma Research and Treatments
- Metabolism, Diabetes, and Cancer
- Hemoglobinopathies and Related Disorders
- Birth, Development, and Health
- Pancreatic function and diabetes
- Neurofibromatosis and Schwannoma Cases
- Diet and metabolism studies
- Pituitary Gland Disorders and Treatments
- Glioma Diagnosis and Treatment
- Hormonal Regulation and Hypertension
- Obesity, Physical Activity, Diet
University of Campania "Luigi Vanvitelli"
2016-2025
Telethon Institute Of Genetics And Medicine
2016-2023
University of Genoa
2021
University of Naples Federico II
2008-2020
Azienda Ospedaliera Universitaria Università degli Studi della Campania Luigi Vanvitelli
2020
University of Trieste
2020
University of Bologna
2020
University of Catania
2016
Vita-Salute San Raffaele University
2016
Massachusetts Department of Mental Health
2016
Context: Obesity and iron deficiency are two of the most common nutritional disorders worldwide. Several studies found higher rates in obese than normal-weight children. Hepcidin represents main inhibitor intestinal absorption, its expression is increased adipose tissue patients. Leptin able, vitro, to raise hepcidin expression. Objectives: Aims this work were 1) assess association between poor status obesity, 2) investigate whether homeostasis children may be modulated by serum variations,...
A polymorphism in adiponutrin/patatin-like phospholipase-3 gene (PNPLA3), rs738409 C->G, encoding for the I148M variant, is strongest genetic determinant of liver fat and ALT levels adulthood childhood obesity. Aims this study were i) to analyse a large group obese children role interaction not-genetic factors such as BMI, waist circumference (W/Hr) insulin resistance (HOMA-IR) exposing association between ii) stratify individual risk these have injury on basis gene-environment...
Summary Background The Glu167Lys ( E167K ) transmembrane 6 superfamily member 2 TM6SF2 variant has been associated with liver steatosis, high alanine transaminase ALT levels and reduced plasma of liver‐derived triglyceride‐rich lipoproteins. Objectives objectives this study were to investigate in a group obese children the association among 167 K allele gene , cholesterol triglycerides levels, hepatic evaluate potential interaction between I148M patatin like phospholipase 3 PNPLA3...
To verify in obese children whether or not the presence of (i) high waist-to-height ratio (WHtR), (ii) family history for type 2 diabetes (T2D) and (iii) acanthosis nigricans (AN), singularly together, might predict occurrence metabolic syndrome prediabetes.1,080 Italian (567 females) were enrolled. Blood pressure, fasting plasma glucose, insulin, lipids measured, oral glucose tolerance test (OGTT) was performed. The WHtR calculated, T2D assessed, AN noticed. odds ratios showing and/or...
Summary Background Bisphenol A (BPA) exposure has been associated with increased incidence of diabetes and obesity in adults. Objectives To evaluate whether an association between BPA urinary levels insulin resistance as well adiponectin resistin production serum concentrations may occur obese children. Methods Clinical biochemical features 141 children were collected. Serum evaluated. Insulin assessed. Moreover, the effect on gene expression adipocytes from eight normal weight prepubertal...
Increased incidence of central precocious puberty (CPP) after coronavirus infectious disease-19 lockdown has been reported. Our study aims in investigating changes CPP rates and sleep patterns healthy controls.CPP were retrospectively evaluated from April 2020 to 2021. Parents girls diagnosed with during matched controls filled out a questionnaire about disturbances (SDSC questionnaire) schedules.Thirty-five 37 completed the survey. Incidence new cases significantly increased 2020-2021...
Abstract Context There are only a few nationwide studies on boys with central precocious puberty (CPP) and the last Italian study is case series of 45 that dates back to 2000. Objective We aimed evaluate causes CPP in diagnosed during 2 decades Italy relative frequency forms associated nervous system (CNS) abnormalities magnetic resonance imaging (MRI) compared idiopathic ones. Methods performed national multicenter retrospective collecting data from 193 otherwise normal healthy diagnosis...
In recent years, there has been an increasing attention to thyroid function in paediatric obese patients. the present study we aimed 1) determine prevalence of abnormally elevated thyroid-stimulating hormone (TSH) levels Italian children and adolescents 2) investigate whether hyperthyrotropinemia cardiovascular metabolic risk factors 3) verify if TSH elevation is reversible after weight loss. We examined 938 (450 females). Anthropometric, hormonal variables were determined at baseline and, a...
Abstract Context: Obesity is associated with a low-grade inflammatory state and adipocyte (ADP) hyperplasia/hypertrophy. inhibits the “browning” of white adipose tissue. Cannabinoid receptor 2 (CB2) agonists reduce food intake induce antiobesity effect in mice. A common missense CB2 variant, Q63R, causes CB2-reduced function. Objective: To evaluate influence on modulation childhood obesity ADP activity morphology. Design: CB2-Q63R variant was analyzed obese Italian children. The effects an...
A common non-synonymous polymorphism, E167K, in transmembrane six superfamily member 2 (TM6SF2) gene has been recently associated with an increased hepatic triglyceride content, dyslipidemia and liver fibrosis NAFLD patients. We investigated possible associations between the TM6SF2 variants lesions chronic hepatitis C.148 consecutive patients biopsy proven anti-HCV/HCV-RNA-positive hepatitis, naive for antiviral therapy, were genotyped E167K PNPLA3 I148M variants.The score of steatosis was...
Mutations in the imprinted gene MKRN3 have been described as a common genetic cause of idiopathic central precocious puberty (CPP), particular familial cases. However, exact prevalence mutations is unknown. Single nucleotide polymorphisms 2 other genes, DLK1 and KCNK9, associated with age at menarche. We investigated MKRN3, DLK1, KCNK9 genes cohort girls CPP.MKRN3, coding regions were sequenced 60 CPP (familial 23 cases).Three mutations, including new one, found cases (c.1229G>A; p.Cys410Ter...
Neck ultrasound (nUS) is the cornerstone of clinical management thyroid nodules in pediatric patients, as well adults. The current study was carried out to explore and compare diagnostic performance main US-based risk stratification systems (RSSs) (i.e., American College Radiology (ACR), European (EU), Korean (K) TI-RADSs ATA US RSS criteria) for detecting malignant lesions patients. We conducted a retrospective analysis consecutive children adolescents who received diagnosis nodule....
There has been concern about a potential increase in the incidence or severity of Coronavirus Disease 2019 (COVID-19) individuals with adrenal insufficiency (AI). Data on course SARS-CoV-2 infection AI children are lacking. Evaluate whether more susceptible to at risk severe COVID-19. 1143 AI. Of these, 148 patients, 112 primary (PAI) and 36 secondary (SAI), 74 control subjects normal function, who contracted SARS-CoV-2, were evaluated for outcomes infection. Multicenter, retrospective. The...
Thyroid hormone (TH) sensitivity at type 1 diabetes mellitus (T1DM) onset and its connection with acute kidney injury (AKI) has not been investigated. We aimed to evaluate changes in TH children without AKI T1DM assess the role of euthyroid sick syndrome (ESS) this relationship. included 161 new-onset followed them until renal function normalized. The free triiodothyronine (FT3)/free thyroxine (FT4) ratio was used peripheral sensitivity, while TSH index (TSHI), thyrotroph T4 resistance...
Background: Multiple genes can disrupt hypothalamic–pituitary axis development, causing multiple pituitary hormone deficiencies (MPHD). Despite advances in next-generation sequencing (NGS) identifying over 30 key genes, 85% of cases remain unsolved, indicating complex genotype–phenotype correlations and variable inheritance patterns. Objective: This study aimed to identify the MPHD genetics three probands from two unrelated families. Methods: Family A had one affected child, while B...
Pigmentary manifestations can represent an early clinical sign in children affected by Neurofibromatosis type 1 (NF1), Legius syndrome, and other neurocutaneous disorders. The differential molecular diagnosis of these pathologies is a challenge that now be met combining next generation sequencing target genes with concurrent second-level tests, such as multiplex ligation-dependent probe amplification RNA analysis. We clinically genetically investigated 281 patients, almost all pediatric...
No AccessJournal of UrologyPediatric Urology1 Nov 2017Outcomes a Cohort Prenatally Diagnosed and Early Enrolled Patients with Congenital Solitary Functioning Kidney Pierluigi Marzuillo, Stefano Guarino, Anna Grandone, Allegra Di Somma, Nicoletta Della Vecchia, Tiziana Esposito, Giulia Macchini, Rosaria Marotta, Andrea Apicella, Mario Diplomatico, Pier Francesco Rambaldi, Laura Perrone, Emanuele Miraglia del Giudice, Angela La Manna, Cesare Polito MarzuilloPierluigi Marzuillo Department...