A5040413261- Pituitary Gland Disorders and Treatments
- Hormonal Regulation and Hypertension
- Adrenal and Paraganglionic Tumors
- Adrenal Hormones and Disorders
- Sexual Differentiation and Disorders
- Growth Hormone and Insulin-like Growth Factors
- Cancer, Hypoxia, and Metabolism
- Stress Responses and Cortisol
- Neuroendocrine regulation and behavior
- Hypothalamic control of reproductive hormones
- Hormonal and reproductive studies
- Regulation of Appetite and Obesity
- Dialysis and Renal Disease Management
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Glioma Diagnosis and Treatment
- Diet and metabolism studies
- Electrolyte and hormonal disorders
- Circadian rhythm and melatonin
- Adipokines, Inflammation, and Metabolic Diseases
- Estrogen and related hormone effects
- Hedgehog Signaling Pathway Studies
- Neuroblastoma Research and Treatments
- Birth, Development, and Health
- Parathyroid Disorders and Treatments
- Biochemical Analysis and Sensing Techniques
Universidade de São Paulo
2016-2025
Universidade de Ribeirão Preto
2006-2024
University of Quintana Roo
2024
Universidade Brasil
2002-2023
Clinics Hospital of Ribeirão Preto
1999-2021
National Research Institute of Brewing
2021
Universidade de Taubaté
2010-2019
Instituto Nacional de Pediatria
2018
McGill University
2018
Universidade Federal de Uberlândia
2015
Alternative splicing of the human glucocorticoid receptor (hGR) pre-mRNA generates two highly homologous isoforms, termed hGR alpha and beta. is a ligand-activated transcription factor which, in hormone-bound state, modulates expression glucocorticoid-responsive genes by binding to specific response element (GRE) DNA sequences. In contrast, beta does not bind glucocorticoids transcriptionally inactive. We demonstrate here that able inhibit effects hormone-activated on reporter gene...
Abstract Context: Mutations in TAC3 and TACR3 (encoding neurokinin B its receptor) have been identified Turkish patients with idiopathic hypogonadotropic hypogonadism (IHH), but broader populations not yet tested genotype-phenotype correlations established. Objective: A broad cohort of normosmic IHH probands was screened for mutations TAC3/TACR3 to evaluate the prevalence such define genotype/phenotype relationships. Design Setting: The study consisted sequencing TAC3/TACR3, vitro functional...
In normal males, luteinizing hormone (LH) regulates the function of Leydig cells and, hence, male sexual differentiation, pubertal androgenization, function, and fertility. Abnormalities in result primary hypogonadism varying degrees pseudohermaphroditism.1-5 these patients, are absent, hypoplastic, or unresponsive to stimulation with human chorionic gonadotropin (hCG), studies testicular-biopsy samples from some patients have revealed absence LH receptors.2,3 women, stimulates theca produce...
Abstract Context: MicroRNAs (miRNAs) are small noncoding RNAs, functioning as antisense regulators of gene expression by targeting mRNA and contributing to cancer development progression. More than 50% miRNA genes located in cancer-associated genomic regions or fragile sites the genome. Objective: The aim study was analyze differential let-7a, miR-15a, miR-16, miR-21, miR-141, miR-143, miR-145, miR-150 corticotropinomas normal pituitary tissue verify whether their profile correlates with...
Familial isolated pituitary adenoma (FIPA) due to aryl hydrocarbon receptor interacting protein (AIP) gene mutations is an autosomal dominant disease with incomplete penetrance. Clinical screening of apparently unaffected AIP mutation (AIPmut) carriers could identify previously unrecognized disease. To determine the mutational status FIPA and young patients, analyzing their clinical characteristics, perform AIPmut carrier family members. This was observational, longitudinal study conducted...
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...
Screening tests have been used to support a biochemical diagnosis of Cushing’s syndrome (CS). Measurements salivary cortisol offer facilities for studying out-patients. This study assessed in screening CS by evaluating hypercortisolism based on circadian rhythm and the overnight 1-mg dexamethasone (DEX) suppression test We evaluated 33 patients with CS. Thirty normal volunteers 18 obese were as controls. Salivary (nanograms per dL) levels (mean ± sem) 596 44, 528 104, 1205 118 (0900 h); 213...
Physiological activation of the prokineticin pathway has a critical role in olfactory bulb morphogenesis and GnRH secretion mice.To investigate PROK2 PROKR2 mutations patients with hypogonadotropic hypogonadism (HH) associated or not abnormalities.We studied 107 Brazilian HH (63 Kallmann syndrome 44 normosmic HH) 100 control individuals. The coding regions were amplified by PCR followed direct automatic sequencing.In PROK2, two known frameshift identified. Two brothers harbored homozygous...
Context:The comparison of variability, reproducibility, and diagnostic performance late-night salivary cortisol (LNSF) urinary free (UFC) using concurrent consecutive samples in Cushing's syndrome (CS) is lacking.
// 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,...
Patients with germline AIP mutations or low protein expression have large, invasive somatotroph adenomas and poor response to somatostatin analogues (SSA).To study the mechanism of 31 sporadic somatotropinomas (n = 13) high 18) were analyzed for messenger RNA (mRNA) 11 microRNAs (miRNAs) predicted bind 3'UTR AIP. Luciferase reporter assays wild-type deletion constructs AIP-3'UTR used effect selected miRNAs in GH3 cells. Endogenous mRNA levels measured after miRNA over- underexpression HEK293...
Abstract Context Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadic neuroendocrine tumors (PitNETs). Objective To compare prospectively diagnosed AIP mutation-positive (AIPmut) PitNET patients with clinically presenting to clinical characteristics AIPmut AIPneg patients. Design 12-year prospective, observational study. Participants & Setting We studied probands...
Familial glucocorticoid resistance is characterized by increased cortisol secretion without clinical evidence of hypercortisolism, but with manifestations androgen and mineralocorticoid excess. This condition mainly caused mutations the GR gene that cause inadequate transduction signal in target tissues. The features females include hirsutism, acne, male pattern baldness, oligomenorrhea, oligoanovulation. We describe here a new phenotype, female pseudohermaphroditism severe hypokalemia,...
Basal plasma corticosterone levels in prairie voles (Microtus ochrogaster) are extremely high, the absence of any apparent negative consequences glucocorticoid excess. We tested hypothesis that a novel rodent model target tissue resistance to glucocorticoids. Prairie had significantly higher adrenal-to-body weight ratio, 5- 10-fold greater basal corticosterone, and 2- 3-fold ACTH concentrations than montane montanus) rats. While binding globulin (CBG) was 2-fold rats, both estimated directly...
Kallmann syndrome is a clinically and genetically heterogeneous disorder. To date, loss-of-function mutations in the genes encoding anosmin-1 (KAL1) fibroblast growth factor receptor 1 (FGFR1) have been described X-linked autosomal dominant forms of this syndrome, respectively.The objective was to investigate genetic defects KAL1 FGFR1 patients with congenital isolated hypogonadotropic hypogonadism (IHH).Eighty (71 males nine females) IHH were studied, which 30 familial. Forty-six them had...
This study is an updated review of a Southeast Brazilian experience NFPA, emphasizing clinical features, laboratorial and imaging assessment, therapeutic management outcome.Retrospective study, in which 104 patients with NFPA were evaluated by the same team endocrinologists neurosurgeon. Patients underwent biochemical evaluation, radiological studies visual field assessment.Hypopituitarism neuro-ophthalmological defects observed 89%. We GH deficiency (81.4%), hypogonadism (63.3%), adrenal...
There are few data regarding ZAC1 expression in clinically non-functioning pituitary adenomas (NFPA). Because somatotropinomas and NFPA behave differently with respect to tumor shrinkage during somatostatin analogs (SA) therapy, we sought compare the receptor (sstr) types 1, 2, 3 5 mRNA these two adenoma subtypes normal human pituitaries.ZAC1 SSTR levels were evaluated using real-time RT-PCR (TaqMan) 20 compared 23 five pituitaries. The invasiveness was magnetic resonance imaging Hardy's...