Distinct inflammatory gene expression in extraocular muscle and fat from patients with Graves' orbitopathy.

Objective: This study sought to compare patients with thyroid eye disease (TED) and normal controls with respect to the expression of the and genes in orbital fat (OF) and extraocular muscle (EOM).

Design And Methods: A prospective study design was used to evaluate 34 TED patients and 38 healthy controls. OF was harvested from 33 TED patients and 27 controls.

Two-year analysis of efficacy and safety of deferasirox treatment for transfusional iron overload in sickle cell anemia patients.

The efficacy and safety of a 2-year treatment with deferasirox was evaluated in 31 patients with sickle cell anemia and transfusional iron overload. At 24 months, there were significant decreases from baseline in mean serum ferritin (from 2,344.6 to 1,986.

Correlates of human immunodeficiency virus cervicovaginal shedding among postmenopausal and fertile-aged women.

Objective: The aims of this study were to compare the intensity of human immunodeficiency virus (HIV)-RNA genital shedding among postmenopausal (PM) and fertile-aged (F) women and to investigate the association between viral shedding and gynecological features, HIV plasma viral loads, and other markers of HIV disease progression.

Methods: We interviewed 146 HIV-infected women (73 PM/73 F) in search of gynecological complaints and signs and symptoms of HIV disease and obtained additional information concerning HIV infection by medical chart review. Cervicovaginal lavages (CVLs) were collected for assessment of HIV shedding.

Impact of prolonged low-grade physical training on the in vivo glucocorticoid sensitivity and on glucocorticoid receptor-alpha mRNA levels of obese adolescents.

Background/aim: Healthy individuals present variable responses of the hypothalamic-pituitary-adrenal (HPA) axis induced by different patterns of physical training. The aim of this study was to evaluate whether prolonged low-grade physical training influences the HPA axis and also glucocorticoid receptor-alpha (GRalpha) mRNA levels in mononuclear cells of obese adolescents.

Methods: We studied 19 patients with BMI above the 95th percentile (male:female ratio 7:12) aged from 9.

Prolonged physical training decreases mRNA levels of glucocorticoid receptor and inflammatory genes.

Background/aims: Prolonged physical exercise induces adaptive alterations in the hypothalamic-pituitary axis, increasing cortisol metabolism, and reducing cortisol synthesis and glucocorticoid sensitivity. The mechanisms responsible for this relative glucocorticoid resistance remain unknown but may involve expression of genes encoding glucocorticoid receptor (GR) and/or inflammatory molecules of nuclear factor kappa B1 (NFkB1) signaling pathway and cytokines. This study aimed to determine the impact of prolonged physical training on the expression of genes involved in glucocorticoid action and inflammatory response.

A very low dose intravenous dexamethasone suppression test as an index of glucocorticoid sensitivity.

Background/aims: The wide variability of responses to corticotherapy suggests a role for individual recognition of steroid sensitivity in order to customize treatment. Oral dexamethasone (DEX) administration may be hindered by the rate of its intestinal absorption and the liver first-passage effect. In this study we suggest that an intravenous very low dose DEX suppression test (VLD IV-DST) can be used as an index for glucocorticoid (GC) sensitivity.

Graves' disease in Brazilian children and adults: lack of genetic association with CTLA-4 +49A>G polymorphism.

Background/aim: In several populations, major histocompatibility complex and CTLA-4 (cytotoxic T lymphocyte antigen-4) gene polymorphisms are related to adult subjects with Graves' disease (GD). Our aim was to study the association of +49A>G polymorphism of the CTLA-4 gene in Brazilian children and adults with GD and its correlation with clinical and laboratory markers of disease severity.

Methods: CTLA-4 +49A>G polymorphism was established by polymerase chain reaction-restriction fragment length polymorphism analysis in 44 children and 72 adults with GD and compared to a stringent control group consisting of octogenarians with no history of thyroid disease; free T4 and T3 levels and T3/T4 ratio, antithyroid antibodies, and Graves' ophthalmopathy were also evaluated according to genotype.

A three-step molecular protocol employing DNA obtained from dried blood spots for neonatal screening for 45,X Turner syndrome.

Turner syndrome (TS) is one of the most common human chromosomal abnormalities; it is characterized by the presence of one normal X chromosome and the complete or partial loss of the second X chromosome. The early recognition of TS patients allows for adequate therapy for short stature and pubertal sex steroid substitution. We developed a cost-effective molecular diagnostic tool that can be used to identify 45,X TS patients from dried blood spots, for possible use in neonatal screening for TS.

[The use of erythrocyte (RBC) indices in the differential diagnosis of microcytic anemias: is it an approach to be adopted?].

Objective: To evaluate prospectively RBC indices as a diagnostic tool at a high complexity general hospital.

Methods: We analyzed 2278 blood cell counts from the core laboratory of our service and we found 343(15%) microcytic anemias. Concomitant serum samples were found from 52 patients above 14 years-old, and ferritin measurement and hemoglobin electrophoresis were performed.