A new presentation of growth hormone insensitivity (GHI) caused by homozygous mutations in STAT5B (signal transducer and activator of transcription 5B) gene has been characterized in the last years. Its particularity is the association with severe immune dysfunction, especially with lymphocytic interstitial pneumonitis. This may mislead physicians into considering short stature as secondary to chronic immunological disease and consequently into underdiagnosing this form of GHI. The objective of this review is to propagate current knowledge about this rare pathology, facilitating […]

OBJECTIVE: Validate a model of high-fat diet-induced obesity, of low cost, easy reproducibility, that could express characteristics observed in human, and would enable subsequent therapy proposals. MATERIALS AND METHODS: Sixteen Swiss mice received a standard diet (DP) or high-fat diet (DH) for 10 weeks. RESULTS: Although the DP group had greater water (p < 0.01) and feed (p < 0.001) consumption, the DH group had greater body weight (p < 0.5) and adipose tissue gain (p < 0.001), favoring higher […]

OBJECTIVE: The aim of the study was quantify organochlorine compounds in women seeking for infertility treatment (n = 15) and in spontaneously pregnant ones (n = 21). MATERIALS AND METHODS: A questionnaire was applied regarding lifestyle, occupational and reproductive history. Blood samples were collected from both groups. RESULTS: From the pesticides studied, pp’DDE was detected in 100% of infertile women, at higher mean levels than in pregnant women (3.02 mcg/L vs. 0.88 mcg/L; p = 0.001; power of 69%), without […]

OBJECTIVE: The objective of this study was to evaluate patients with classic CAH before and after treatment with glucocorticoids/mineralocorticoid and compare the metabolic profile of the well controlled (WC) and poorly controlled (PC) group. SUBJECTS AND METHODS: We selected newly diagnosed patients and patients monitored for CAH, classical form, regularly using or not glucocorticoids/mineralocorticoid in the Genetics Service Hupes-UFBA, seen from March/2004 to May/2006. All patients underwent detailed clinical evaluation and laboratory tests (glucose, sodium and potassium; total cholesterol, HDL, […]

OBJECTIVE: To evaluate the prevalence of the diseases phenylketonuria (PKU), congenital hypothyroidism (CH), cystic fibrosis (CF), hemoglobinopathies (HB), and congenital adrenal hyperplasia (CAH), in the state of Santa Catarina, in order to delineate the local population profile for these diseases. MATERIALS AND METHODS: A survey of data from the Newborn Screening Program of the Ministry of Health of Santa Catarina, in the period 2004 to 2008 was carried out. RESULTS: During the study period, the following prevalences were obtained: 1:28,862 […]

OBJECTIVE: To examine the effect of different doses of triiodothyronine (T3) on mRNA levels of thyroid hormone receptors, TR? and TR?, at different times. MATERIALS AND METHODS: 3T3-L1 adipocytes were incubated with T3 (physiological dose: F; supraphysiological doses: SI or SII), or without T3 (control, C) for 0.5, 1, 6, or 24h. TR? and TR? mRNA was detected using real-time polymerase chain reaction. RESULTS: F increased TR? mRNA levels at 0.5h. After 1h, TR? levels increased with F and SI […]

OBJECTIVE: To estimate the prevalence of celiac disease (CD) in children and adolescents with type 1 diabetes mellitus (T1DM) treated in the Children’s Division of Endocrinology, at the Universidade Federal de Minas Gerais Hospital das Clínicas. SUBJECTS AND METHODS: Children and adolescents diagnosed with T1DM, aged 0 to 18 year, were included in this study performed from March 1999 to April 2009. All patients were screened for CD at their first visit and, again, annually. The investigation was performed through […]

OBJECTIVE: This study aims investigate if nondiabetic subjects with fasting glucose < 126 mg/dL but altered HbA1c already have lower estimated glomerular filtration (eGFR) and high serum MCP-1 levels in comparison to nondiabetics with normal HbA1c, independent of other metabolic changes. MATERIALS AND METHODS: Data were derived from the database of the CAMELIA (cardio-metabolic-renal family) study, a cross sectional study performed between July 2006 and December 2007, with participants recruited from the Family Doctor Program, Niterói, RJ. RESULTS: An independent […]

The management of insulin therapy in diabetic patients who have comorbidities that involve nutritional aspects, is a major challenge for diabetes care teams. In diabetic patients with compromised nutritional status, artificial nutrition, both enteral or parenteral, may help in the treatment of chronic and acute diseases, leading to better and faster recover of the health status but, if not adequately associated with insulin therapy, it may negatively affect blood glucose levels and lead to poorer metabolic control. In particular, evidence-based […]