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.

Deferasirox in patients with iron overload secondary to hereditary hemochromatosis: results of a 1-yr Phase 2 study.

This open-label, prospective, phase 2 study evaluated the safety and efficacy of deferasirox (10 ± 5 mg/kg/d) in patients with hereditary hemochromatosis (HH) and iron overload refractory to or intolerant of phlebotomy. Ten patients were enrolled and all completed the 12-month treatment period. There were significant decreases from baseline to end of study (i.

BRAF mutation in the elderly submitted to thyroidectomy.

Objective: To evaluate the frequency of the BRAF V600E mutation in patients over 65 years of age undergoing thyroidectomy, correlating its presence or absence with the different histologic lesions, their variants and with prognostic factors of papillary carcinoma.

Methods: We evaluated 85 patients over 65 years of age who underwent thyroidectomy, analyzing the BRAF V600E mutation by RT-PCR performed after DNA extraction from the paraffin blocks.

Results: The study detected the presence or absence of BRAF V600E mutation in 47 patients (55.

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.

CORRELATION BETWEEN CALCANEAL BONE ULTRASOUND MEASUREMENTS AND DENSITOMETRY AMONG POSTMENOPAUSAL WOMEN WITH FRACTURES CAUSED BY BONE FRAGILITY.

Objective: To assess the correlation between ultrasound (US) measurement on the calcaneus and bone densitometry (DEXA), among postmenopausal women who already presented fragility fractures.

Methods: 35 postmenopausal women over 40 years of age, with the ability to walk and presenting osteoporotic fractures of the wrist or spine, without previous treatment for osteoporosis, were analyzed in a retrospective cohort. Of these, 16 were under 60 and 19 were over 60.

New clinical score to diagnose nonalcoholic steatohepatitis in obese patients.

Background: Nonalcoholic fatty liver disease (NAFLD) is the most frequent disease associated with abnormal liver tests that is characterized by a wide spectrum of liver damage, ranging from simple macro vesicular steatosis to steatohepatitis (NASH), cirrhosis or liver carcinoma. Liver biopsy is the most precise test to differentiate NASH from other stages of NAFLD, but it is an invasive and expensive method. This study aimed to create a clinical laboratory score capable of identify individual with NASH in severely obese patients submitted to bariatric surgery.

Miniaturization and globalization of clinical laboratory activities.

Clinical laboratories provide an invaluable service to millions of people around the world in the form of quality diagnostic care. Within the clinical laboratory industry the impetus for change has come from technological development (miniaturization, nanotechnology, and their collective effect on point-of-care testing; POCT) and the increasingly global nature of laboratory services. Potential technological gains in POCT include: the development of bio-sensors, microarrays, genetics and proteomics testing, and enhanced web connectivity.

Myocilin mt.1 gene promoter single nucleotide polymorphism (-1000C>G) in Brazilian patients with primary open angle glaucoma.

Background: The myocilin (MYOC) gene promoter polymorphism -1000C>G (MYOC mt.1) can be associated with faster progression of primary open angle glaucoma (POAG). The purpose of this study was to investigate the MYOC mt.

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.

Simultaneous evaluation of in vivo glucocorticoid sensitivity and expression of glucocorticoid receptor alpha-isoform in rheumatoid arthritis patients.

Objectives: To analyze glucocorticoid (GC) sensitivity using intravenous very low dose dexamethasone suppression test (IV-VLD-DST) in patients with rheumatoid arthritis (RA) and its correlation with glucocorticoid receptor alpha-isoform (GRalpha) gene expression.

Methods: We evaluated 20 healthy controls and 32 RA patients with Health Assessment Questionnaire (HAQ) and Disease Activity Score 28 joints (DAS) scores and IV-VLD-DST and GRalpha expression in mononuclear cells.

Results: Basal cortisol and the percentage of cortisol reduction after IV-VLD-DST were lower in RA patients than in controls, whereas GRalpha expression was similar among groups.

Meeting the challenges of globalisation and miniaturisation in laboratory services.

In the recent years, two trends emerged in the clinical laboratory: the miniaturisation of equipments to provide point-of-care testing (POCT) and a concentration of laboratories through mergers and acquisitions. New technology has expanded both opportunities. POCT provides the benefit of a convenient test where it is needed, i.

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.

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.

Real-time PCR quantitation of glucocorticoid receptor alpha isoform.

Background: The expression of glucocorticoid-receptor (GR) seems to be a key mechanism in the regulation of glucocorticoid (GC) sensitivity and is potentially involved in cases of GC resistance or hypersensitivity. The aim of this study is to describe a method for quantitation of GR alpha isoform (GRalpha) expression using real-time PCR (qrt-PCR) with analytical capabilities to monitor patients, offering standard-curve reproducibility as well as intra- and inter-assay precision.

Results: Standard-curves were constructed by employing standardized Jurkat cell culture procedures, both for GRalpha and BCR (breakpoint cluster region), as a normalizing gene.

[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.