A5009155987- Growth Hormone and Insulin-like Growth Factors
- Lipid metabolism and disorders
- Genetic Syndromes and Imprinting
- Sexual Differentiation and Disorders
- Pancreatic function and diabetes
- Diet and metabolism studies
- Thyroid Disorders and Treatments
- Pituitary Gland Disorders and Treatments
- Liver Disease Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Congenital Diaphragmatic Hernia Studies
- Childhood Cancer Survivors' Quality of Life
- Birth, Development, and Health
- Metabolism, Diabetes, and Cancer
- Sleep and Wakefulness Research
- Diet, Metabolism, and Disease
- Cancer, Hypoxia, and Metabolism
- Neurogenetic and Muscular Disorders Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Neonatal Health and Biochemistry
- Congenital Ear and Nasal Anomalies
- Organ Donation and Transplantation
- Urological Disorders and Treatments
- Sleep and related disorders
- Education during COVID-19 pandemic
Universidade Federal de Sergipe
2014-2024
Instituto de Tecnologia e Pesquisa
2021
Johns Hopkins University
2016
GH deficiency (GHD) in adults is associated with increased abdominal adiposity and systolic blood pressure, total low-density lipoprotein cholesterol, C-reactive protein.We have studied the effects of 6-month replacement therapy 20 adult members a large Brazilian kindred lifelong severe isolated GHD due to homozygous mutation GHRH receptor gene (46 +/- 14.5 yr; 122 7.7 cm; 36.7 5.4 kg; 10 men). Subjects were at baseline, after bimonthly depot injections (Nutropin Depot; Genentech, Inc.,...
GH reduces insulin sensitivity (IS), whereas IGF-I increases it. seems to be critical for the development of β-cells, and impaired IS has been reported in deficiency (GHD).The aim study was assess β-cell function adult patients with untreated isolated GHD (IGHD) due a homozygous mutation GHRH receptor gene.We conducted cross-sectional 24 GH-naive IGHD subjects 25 controls.We performed an oral glucose tolerance test measurements at 0, 30, 60, 90, 120, 180 min.IS assessed by homeostasis model...
Abstract GH and its principal mediator IGF1 have important effects on metabolic cardiovascular (CV) status. While acquired deficiency (GHD) is often associated with increased CV risk, the consequences of congenital GHD are not known. We described a large group patients isolated (IGHD) due to homozygous mutation (c.57+1G>A) in releasing hormone receptor gene, shown that adult GH-naïve individuals no evidence clinically evident premature atherosclerosis. To test whether subclinical...
Abstract Context: Biallelic mutations in the GHRH receptor (GHRHR) gene are a frequent cause of isolated GH deficiency (IGHD). Although heterozygous carriers these appear normal, we hypothesized that heterozygosity for GHRHR mutation might be associated with subclinical phenotype. Methods: We studied members large Brazilian kindred IGHD (Itabaianinha cohort) caused by homozygous null mutation. compared 76 adult subjects (age, 25–75 yr) (WT/MT) 77 sex-matched controls from same population who...
The GH/IGF-I axis is important for bone growth, but its effects on joint function are not completely understood. Adult-onset GH-deficient individuals have often reduced mineral density (BMD). However, there limited data BMD in adult patients with untreated congenital isolated (IGHD). We shown that IGHD from the Itabaianinha, homozygous c.57+1G>A GHRHR mutation, stiffness, and status this cohort unknown.The goal to study BMD, function, osteoarthritis score previously adults harboring...
Adult subjects with untreated, lifetime, isolated GH deficiency (IGHD) due to a homozygous GHRH receptor gene mutation (MUT/MUT) residing in Itabaianinha, Brazil, present lower BMI, higher prevalence of impaired glucose tolerance (IGT), increased insulin sensitivity (IS), and reduced β-cell function (βCF) when compared non-BMI-matched normal controls. However, the diabetes mellitus (DM) this cohort is unknown. Comparing their IS βCF BMI-matched individuals heterozygous for same (MUT/N) may...
Isolated growth hormone (GH) deficiency (IGHD) affects approximately 1 in 4,000 to 10,000 individuals worldwide. We have previously described a large cohort of subjects with IGHD due homozygous mutation the GH releasing (GHRH) receptor gene. These exhibit throughout life very low levels and its principal mediator, Insulin Growth Factor-I (IGF-I). The facilitating role IGF-I infection mice macrophages by different Leishmania strains is well known. Nevertheless, human has not been studied....
GH-releasing hormone (GHRH) exerts hypnotic actions increasing the non-rapid eye movement (NREM) sleep. Conversely, GH stimulates REM deficiency (GHD) often leads to sleep problems, daytime fatigue and reduced quality of life (QoL). GHD may be due lack hypothalamic GHRH or destruction somatotroph cells. We have described a cohort with isolated (IGHD) resistance caused by homozygous null mutation (c.57 + 1G > A) in receptor gene. They normal QoL no obvious complaints chronic tiredness. The...
Nonalcoholic fatty liver disease (NAFLD) is known to be associated with insulin resistance, atherosclerosis, and low serum IGF1 levels. We have described a large cohort of patients isolated GH deficiency (IGHD) due the c.57+1G→A mutation in GHRH receptor gene. These subjects increased sensitivity (IS), delayed normal longevity. hypothesized that, despite visceral obesity, NAFLD would absent or mild IS. To assess prevalence severity adult lifetime, congenital, untreated IGHD, we studied 22...
Individuals with untreated isolated GH deficiency (IGHD) due to a mutation in the GHRH receptor gene from Itabaianinha Brazil have increased insulin sensitivity, normal life expectancy, and an extended health span, i.e. period of free disabilities. We hypothesize that their prolonged span is accompanied by delayed cognitive decline senescence. To test this hypothesis, we administered Literacy-Independent Cognitive Assessment (LICA) 15 IGHD individuals aged over 50 years controls matched age,...
OBJETIVES: Deficiency of 21-hydroxylase is the most common form congenital adrenal hyperplasia (CAH-21OH). The aim this study was to determine, by allele-specific PCR, frequency microconversions CYP21A2, in sixteen patients with classical forms and 5 nonclassical (NC) CAH-21OH correlate genotype phenotype. METHODS: Genotypes were classified into 3 mutation groups (A, B C), based on degree enzymatic activity. Screening for 7 PCR diagnosed 74.3% (n=26) 35 unrelated alleles. RESULTS: frequent...
GH and IGF-1 are crucial for attainment of normal body size regulation food intake, nutrient storage, insulin sensitivity. Enteroendocrine connections exist between the GH–IGF-1 axis insulin, ghrelin, glucagon-like peptide 1 (GLP-1). The status these in deficiency (GHD) is unknown. To study enteroendocrine before after a standard meal test homogeneous population adults with congenital untreated isolated GHD (IGHD) due to mutation GHRH receptor gene. In cross-sectional 20 individuals IGHD...
Objectives: GH therapy is still controversial, except in severe deficiency (SGHD). The objective of this study was to compare the response growth hormone (GH) children with partial insensitivity (PGHIS) and mild (MGHD) those SGHD.Subjects methods: Fifteen PGHIS, 11 MGHD, 19 SGHD subjects, followed up for more than one year Brazilian public care service, were evaluated regarding anthropometric laboratory data at beginning treatment, after (1 st year) on last assessment (up ten years SGHD,...