A5044895027- Adrenal and Paraganglionic Tumors
- Pituitary Gland Disorders and Treatments
- Cancer, Hypoxia, and Metabolism
- Hormonal Regulation and Hypertension
- Glioma Diagnosis and Treatment
- Growth Hormone and Insulin-like Growth Factors
- Sexual Differentiation and Disorders
- Hypothalamic control of reproductive hormones
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Adrenal Hormones and Disorders
- Infant Development and Preterm Care
- Neuroblastoma Research and Treatments
- Hormonal and reproductive studies
- Neonatal Respiratory Health Research
- Birth, Development, and Health
- Adipokines, Inflammation, and Metabolic Diseases
- Hedgehog Signaling Pathway Studies
- Pregnancy and preeclampsia studies
- Ubiquitin and proteasome pathways
- Circadian rhythm and melatonin
- Bone Tumor Diagnosis and Treatments
- Diabetes and associated disorders
- Pediatric Pain Management Techniques
- Chromatin Remodeling and Cancer
- TGF-β signaling in diseases
Universidade de São Paulo
2016-2025
Clinics Hospital of Ribeirão Preto
2002-2025
Universidade de Ribeirão Preto
2002-2024
Sapienza University of Rome
2023
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2021
Pediatrics and Genetics
2007-2017
Universidade Federal de Uberlândia
2015
Universidade Brasil
2000-2011
Université de Montréal
2004
Centre Hospitalier de l’Université de Montréal
2002
Loss-of-function mutations in makorin ring finger 3 (MKRN3), an imprinted gene located on the long arm of chromosome 15, have been recognized recently as a cause familial central precocious puberty (CPP) humans. MKRN3 has potential inhibitory effect GnRH secretion.The objective study was to investigate sequence variations well copy number and methylation abnormalities 15q11 locus patients with apparently sporadic CPP.We studied 215 unrelated children (207 girls eight boys) from three...
// Letícia F. Leal 1 , Ana Carolina Bueno Débora C. Gomes 1, 2 Rafael Abduch Margaret de Castro 3 Sonir R. Antonini Department of Pediatrics, Ribeirao Preto Medical School, University Sao Paulo, Preto, Brazil School Medicine, Federal Uberlandia, Uberlândia, Minas Gerais, Internal Correspondence to: Antonini, e-mail: antonini@fmrp.usp.br Keywords: adrenocortical cancer, beta-catenin, steroidogenesis, apoptosis, targeted therapy Received: April 13,...
Pituitary stem cells play a role in the oncogenesis of human adamantinomatous craniopharyngiomas (aCPs). We hypothesized that crosstalk between Wnt/β-catenin and Sonic Hedgehog (SHH) pathways, both which are important normal pituitary development, would contribute to pathogenesis aCPs.To explore mRNA protein expression components SHH signaling pathway aCPs their relationship with identification CTNNB1/β-catenin mutations patients outcomes.In 18 aCP samples, CTNNB1 was sequenced, levels...
<h3>Background</h3> Mutations in <i>GLI2</i> have been associated with holoprosencephaly (HPE), a neuroanatomic anomaly resulting from incomplete cleavage of the developing forebrain, and an HPE-like phenotype involving pituitary anomalies polydactyly. <h3>Objective</h3> To characterise genotypic phenotypic findings individuals variants clarify clinical loss-of-function mutations. <h3>Methods</h3> Through National Institutes Health collaborating centres, ∼400 HPE spectrum disorders,...
Abstract Context Loss-of-function mutations of makorin RING finger protein 3 (MKRN3) are the most common monogenic cause familial central precocious puberty (CPP). Objective To describe clinical and hormonal features a large cohort patients with CPP due to MKRN3 compare characteristics different types genetic defects. Methods Multiethnic 716 or idiopathic screened for using Sanger sequencing. A group 156 Brazilian girls (ICPP) was used as control group. Results Seventy-one (45 26 boys from...
The circadian rhythm of cortisol is established at between 8 and 12 postnatal weeks in term infants. However, there limited information about the effect prematurity on this rhythm. We evaluated emergence salivary premature infants its relationship to onset sleep daily rhythm.A longitudinal study a group nine (gestational age 31-34 weeks) was performed. Salivary samples were obtained morning night 2, 4, 8, 12, 16, 20 24 babies' sleeping periods recorded by their mothers.Cortisol determined...
CTNNB1/β-catenin mutations and activation of Wnt/β-catenin pathway are frequent in adult adrenocortical tumors (ACT), but data on childhood ACT lacking. The aim the study was to investigate presence abnormalities ACT. Clinicopathological findings outcome 62 patients were analyzed regarding CTNNB1 expression Wnt-related genes (CTNNB1; WNT4, a Wnt ligand; SFRP1, DKK3, AXIN1, inhibitors; TCF7, transcription factor; MYC WISP2, target genes) by quantitative PCR immunohistochemistry....
Context The association between large for gestational age (LGA) phenotype, postnatal growth and cardiometabolic risk (CMR) in adult life remains unclear. role of IGF1 genotype on LGA-related outcomes is unknown. Aim To assess the growth, IGF-I levels, CMR influence 737.738 adults born LGA. Subjects Case–control study (n = 515) nested a population-based prospective cohort 2063); 117 LGA 398 gender-matched controls appropriate (AGA) subjects. Methods Anthropometry was evaluated at birth, 9–10...
<b><i>Aims:</i></b> The study was designed to evaluate the newborn (NB) stress response during inpatient time in neonatal intensive care unit. <b><i>Methods:</i></b> A quantitative, prospective, observational conducted with two NB groups. first group consisted of 12 patients unit as experimental (EG), and second included 43 NBs who were sent their own homes considered control (CG). EG's salivary cortisol concentration measured on 2nd day (D2)...
OBJECTIVES: Idiopathic central precocious puberty and its postponement with a (gonadotropin-releasing hormone) GnRH agonist are complex conditions, the final effects of which on bone mass difficult to define.We evaluated mass, body composition, remodeling in two groups girls idiopathic puberty, namely one group that was assessed at diagnosis second three years after treatment. METHODS:The treatment consisted 12 matched for age weight corresponding control (CD) 14 (CT) girls,...
Background:The sonic hedgehog (SHH) pathway plays a key role in rodent adrenal cortex development and is involved tumorigenesis several human tissues, but data glands are limited.
Mitotane is an important cornerstone in the treatment of pediatric adrenal cortical tumors (pACC), but experience with drug age group still limited and current practice not guided by robust evidence. Therefore, we have compiled international consensus statements from pACC experts on mitotane indications, therapy, management adverse effects.
Context: Rare activating mutations of the human (h)FSHR have been reported in some women with spontaneous ovarian hyperstimulation pregnancy, where follicular growth is inappropriately stimulated by elevated concentrations chorionic gonadotropin acting through hFSHR. It not known whether peripubertal girls untreated primary hypothyroidism caused hFSHR and/or influenced allelic variants, rendering more sensitive to circulating TSH. Objective: The aim study was determine variants are...
Genetic factors that influence the response to recombinant human GH (rhGH) therapy remain mostly unknown. To date, only receptor gene has been investigated.The aim of study was assess a polymorphism in IGF-binding protein-3 (IGFBP-3) promoter region (-202 A/C) on circulating IGFBP-3 levels and growth rhGH children with deficiency (GHD).-202 A/C IGFBP3 genotyping (rs2854744) correlated data 71 severe GHD who remained prepubertal during first year treatment.We measured velocity (GV)...
Familial male-limited precocious puberty (FMPP) or testotoxicosis is a rare gonadotrophin-independent form of sexual precocity caused by constitutively activating mutations the LH receptor. Several clinical therapeutic approaches have been reported for this disorder, but with paucity long-term outcome data.To evaluate treatment cyproterone acetate ketoconazole.A multicentric retrospective study.Ten boys from eight unrelated Brazilian families who carried known LH-receptor were treated 70...
To investigate LIN28B gene variants in children with idiopathic central precocious puberty (CPP).We studied 178 Brazilian CPP (171 girls, 16.8% familial cases). A large multiethnic group (1,599 subjects; Multiethnic Cohort, MEC) was used as control. DNA analysis and biochemical vitro studies were performed.A heterozygous variant, p.H199R, identified a girl who developed at 5.2 years. This variant absent 310 control individuals, but it found the same allele frequency women from MEC cohort,...
Background Low expression of HLA class II antigens has been associated with more aggressive disease in several human malignancies including adult adrenocortical tumors (ACT), but their clinical relevance pediatric ACT needs to be investigated. Procedure This study analyzed the profile three histocompatibility genes ( HLA‐DRA, HLA‐DPA1 , and HLA‐DPB1 ) 58 consecutive (13 adenomas 45 carcinomas) by quantitative real time PCR association biological features. protein level was determined...
Canonical and non-canonical Wnt pathways are involved in the genesis of multiple tumors; however, their role pituitary tumorigenesis is mostly unknown.This study evaluated gene protein expression tumors whether these correlate to clinical outcome.Genes WNT canonical pathway: activating ligands (WNT11, WNT4, WNT5A), binding inhibitors (DKK3, sFRP1), β-catenin (CTNNB1), degradation complex (APC, AXIN1, GSK3β), inhibitor (AKT1), sequester (CDH1), pathway effectors (TCF7, MAPK8, NFAT5),...
Maternal kangaroo care (MKC) is a naturalistic intervention that alleviates neonatal pain, and mothers are assumed to play stress regulatory role in MKC. Yet, no MKC infant pain study has examined relationship between maternal reactivity concurrently, or whether post-partum depression and/or anxiety (PPDA) alters response the effects of MKC.To examine concordance salivary cortisol 42 their stable preterm infants during routine heel lance (HL) while compare groups with without PPDA...
We assess the severity and frequency of diabetic ketoacidosis (DKA) in new-onset type 1 diabetes mellitus (T1D) patients with previous diagnosis T1D a referral Brazilian university hospital first five months COVID-19 pandemic. also compare data from pre-pandemic periods. Forty-three were diagnosed between April August years 2017, 2018, 2019, 2020. During pandemic, number was over twice same period three years. All 43 survived are now on outpatient follow-up. compared characteristics...