A5077290368- Parathyroid Disorders and Treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Erythrocyte Function and Pathophysiology
- Thyroid Disorders and Treatments
- Sexual Differentiation and Disorders
- Maternal Mental Health During Pregnancy and Postpartum
- Growth Hormone and Insulin-like Growth Factors
- Childhood Cancer Survivors' Quality of Life
- Adolescent and Pediatric Healthcare
- Genetic Syndromes and Imprinting
- COVID-19 Impact on Reproduction
- Ion Transport and Channel Regulation
- Resilience and Mental Health
- Preterm Birth and Chorioamnionitis
- Neonatal Health and Biochemistry
- Gender Studies in Language
- Pancreatic and Hepatic Oncology Research
- Child and Adolescent Psychosocial and Emotional Development
- Magnesium in Health and Disease
- Neonatal Respiratory Health Research
- Metabolism and Genetic Disorders
- Characterization and Applications of Magnetic Nanoparticles
- Genetic and Kidney Cyst Diseases
- Advanced Fluorescence Microscopy Techniques
- Youth, Drugs, and Violence
Universidade Estadual de Campinas (UNICAMP)
2013-2024
Whitney Museum of American Art
2024
Domus Medica
2024
Harvard University Press
2020
Boston Children's Hospital
2015-2016
Hospital de Clínicas da Unicamp
2007-2011
McGill University
2000-2002
Familial hypocalciuric hypercalcemia (FHH) is caused by heterozygous loss-of-function mutations in the calcium-sensing receptor (CASR), which lifelong generally asymptomatic. Homozygous CASR manifest as neonatal severe hyperparathyroidism (NSHPT), a rare disorder characterized extreme and bony changes of hyperparathyroidism, occur infancy. Activating gene have been identified several families with autosomal dominant hypocalcemia (ADH), hypoparathyroidism, or hypocalcemic hypercalciuria....
Abstract Background Previous research in animal seizure models indicates that the pleiotropic cytokine TNF is an important effector/mediator of neuroinflammation and cell death. Recently, it has been demonstrated downregulates Klotho (KL) through nuclear factor kappa B (NFkB) system chronic kidney disease colitis. KL function brain unclear, although knockout ( Kl −/− ) mice exhibit neural degeneration a reduction hippocampal synapses. Our aim was to verify if triad - NFKB1 also dysregulated...
Familial hypocalciuric hypercalcemia (FHH), neonatal severe hyperparathyroidism (NSHPT), and autosomal dominant hypocalcemia (ADH), in which calcium homeostasis is disordered, are associated with mutations the calcium-sensing receptor (CASR). Six unrelated kindreds FHH and/or NSHPT two ADH were studied. Direct sequence analysis of exons CASR gene identified heterozygous six one those ADH. We performed functional analyses on novel missense insertion/frameshift mutants by transiently...
Seizure models have demonstrated that neuroinflammation and neurodegeneration are preponderant characteristics of epilepsy. Considering the lack clinical studies, our aim is to investigate extrinsic pathway apoptosis in pharmacoresistant temporal lobe epilepsy (TLE) associated with hippocampal sclerosis (HS) patients, TLE(HS). By a specific death receptor-mediated array plate, 31 upregulated targets were revealed sclerotic hippocampus from TLE(HS) patients. Amongst them encoding genes for...
Previous coronavirus epidemics were associated with increased maternal morbidity, mortality, and adverse obstetric outcomes. Reports for SARS-CoV-2 indicate that the population is at risk severe illness, although there are still limited data on mild COVID-19 infection during pregnancy. To determine association between pregnancy, neonatal outcomes, we performed a prospective cohort study among pregnant women control group. Postnatal depressive symptoms assessed using Edinburgh Depression...
The aim of this study was to investigate the frequency gonadal tumors among patients with Turner syndrome (TS) carrying Y-derivative sequences in their chromosomal constitution.Six out 260 TS were selected based on mosaicism entire Y chromosome; 10 included because have been detected by PCR specific oligonucleotides (sex-determining region Y, testis specific-protein, and DYZ3) further confirmed FISH. 16 subjected bilateral gonadectomy at ages varying from 8.7 18.2 years. Both...
ABSTRACT Neonatal severe hyperparathyroidism (NSHPT) is a rare disorder characterized by major hypercalcemia, elevated parathyroid hormone levels, and marked enlargement of multiple glands, usually associated with germline mutations in the calcium receptor gene CASR. However, little known about outgrowth tumors NSHPT, including whether they represent monoclonal or polyclonal expansions. We sought to examine clonality tissues resected from patient NSHPT biallelic CASR mutations. DNA two...
ObjectivesTo determine the effects of in-utero exposure to maternal SARS-CoV-2 infection on offspring's neurodevelopment during first year life.MethodsWe performed a prospective cohort babies exposed pregnancy, and control group (CG) unexposed in low-income area Brazil. Children's was assessed using guide for Monitoring Child Development Integrated Management Childhood Illness context both groups (at 1,2,3,4,5,6, 9, 12 months), Ages & Stages Questionnaire (ASQ-3) (EG) 4, 6 months).ResultsWe...
Mutations in the vitamin D receptor (VDR) are associated to hereditary 1,25-dihydroxivitamin D-resistant rickets. The objectives of this work are: search for mutations VDR and analyze their functional consequences four Brazilian children presented with rickets alopecia. coding region was amplified by PCR e direct sequenced. We identified three mutations: two patients had same mutation exon 7 at aminoacid position 259 (p.Q259E); one patient a 8 codon 319 (p.G319V) another 3 leading truncated...
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary cancer syndrome characterized mostly by parathyroid, enteropancreatic, and anterior pituitary tumors. We present a case of 8-year-old boy referred because hypoglycemic attacks. His diagnosis was pancreatic insulinoma. Paternal grandmother died due to repeated gastroduodenal ulcerations paternal aunt presented similar manifestations. At first evaluation, the father only gastric ulceration but subsequently developed...
Background The confirmatory diagnosis of Osteogenesis Imperfecta (OI) requires invasive, commonly bone biopsy, time consuming and destructive methods. This paper proposes an alternative method using a combination two-photon excitation fluorescence (TPEF) second-harmonic generation (SHG) microscopies from easily obtained human skin biopsies. We show that this can distinguish subtypes OI. Methodology/Principal Findings Different aspects collagen microstructure fresh biopsies standard...
Deficiency of the enzyme P450 oxidoreductase is a rare form congenital adrenal hyperplasia with characteristics combined and partial impairments in steroidogenic activities, as transfers electrons to CYP21A2, CYP17A1, CYP19A1. It results disorders sex development skeletal malformations similar Antley-Bixley syndrome. We report case 9-year-old girl who was born virilized genitalia (Prader stage V), absence palpable gonads, 46,XX karyotype, hypergonadotropic hypogonadism. During first year...
The aim of this study was to evaluate the physical measurements and body composition female patients with classic form congenital adrenal hyperplasia (CAH) due 21-hydroxylase deficiency. Twenty-eight girls CAH were classified according both hormonal control (well or not well controlled) clinical disease (simple virilizing salt-wasting). In group, 112 healthy individuals included, divided into two subgroups (male female). Both controls subdivided by age three groups pubertal stage: < =10...
To determine the prevalence of congenital hypothyroidism in children with filter-paper blood-spot TSH (b-TSH) between 5 and 10μIU/mL neonatal screening.This was a retrospective study including screened from 2003 to 2010, b-TSH levels 10μIU/mL, who were followed-up during first two years life when there no serum normalization. The diagnosis defined as ≥10μIU/mL start levothyroxine treatment up 2 age.Of 380,741 live births, 3713 (1.04%) had filter paper and, these, 339 (9.13%) hypothyroidism....
Abstract Mutations in the Bruton agammaglobulinemia tyrosine kinase ( BTK ) gene are responsible for X‐linked (XLA). Unfolded or misfolded proteins can trigger stress pathways endoplasmic reticulum (ER), known as unfolded protein response (UPR). The aim was to clarify involvement of UPR XLA pathophysiology. By reverse transcription‐quantitative PCR, we evaluated expression and 12 UPR‐related genes eight patients. Moreover, assessed pattern patients' monocytes by flow cytometry fluorescence...
Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele and hypopituitarism. Clinical signs are varied occult. The PAX6 gene involved in ocular morphogenesis expressed numerous tissues during development the developing central nervous system. aim of present study to evaluate MGS isolated growth hormone deficiency. Three pre-pubertal males (A, B C) short stature due deficiency, treated recombinant human...