Pheochromocytoma/Paraganglioma (PPGL): A Misdiagnosed Cause of Hypertension during Pregnancy.

Hypertension (HT) during pregnancy is not an infrequent obstetric problem, reaching a prevalence of 5-10%. This condition is highly associated with both maternal and fetal complications if not precisely diagnosed and managed. Even though primary HT, obesity, and preeclampsia are the main causes of HT in this period, other less familiar conditions must be considered during the investigation.

Severe combined immunodeficiency diagnosis and genetic defects.

Severe combined immunodeficiency (SCID) is a rare and life-threatening genetic disorder that severely impairs the immune system's ability to defend the body against infections. Often referred to as the "bubble boy" disease, SCID gained widespread recognition due to the case of David Vetter, a young boy who lived in a sterile plastic bubble to protect him from germs. SCID is typically present at birth, and it results from genetic mutations that affect the development and function of immune cells, particularly T cells and B cells.

Reassessment of predictive values of ACTH-stimulated serum 21-deoxycortisol and 17-hydroxyprogesterone to identify CYP21A2 heterozygote carriers and nonclassic subjects.

Introduction: Heterozygotes (HZs) for 21-hydroxylase deficiency (21OHD) are highly prevalent, ranging from 1:60 to 1:11 for classic and nonclassic (NC) forms, respectively. Detection of HZ and asymptomatic NC by CYP21A2 genotyping is valuable for genetic counselling, but costly, complex and narrowly available. Adrenocorticotropic hormone (ACTH)-stimulated serum 17-hydroxyprogesterone (17P) and 21-deoxycortisol (21DF) discriminate 21OHD phenotypes effectively, notably if measured simultaneously by liquid chromatography-tandem mass spectrometry (LC-MS/MS).

Eating, Sleep, and Social Patterns as Independent Predictors of Clinical, Metabolic, and Biochemical Behaviors Among Elite Male Athletes: The EROS-PREDICTORS Study.

Physiological hormonal adaptions in athletes and pathological changes that occur in overtraining syndrome among athletes are unclear. The Endocrine and Metabolic Responses on Overtraining Syndrome (EROS) study evaluated 117 markers and unveiled novel hormonal and metabolic beneficial adaptive processes in athletes. The objective of the present study was to uncover which modifiable factors predict the behaviors of clinical and biochemical parameters and to understand their mechanisms and outcomes using the parameters evaluated in the EROS study.

Allelic Variants of in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules.

Germline mutations are considered to be the main genetic cause of primary macronodular adrenal hyperplasia (PMAH). PMAH is associated with high variability of cortisol secretion caused from subclinical hypercortisolism to overt Cushing's syndrome (CS), in general due to bilateral adrenal nodules and rarely could also be due to non-synchronic unilateral adrenal nodules. The frequency of adrenal incidentalomas (AI) associated with PMAH is unknown.

Inter-correlations Among Clinical, Metabolic, and Biochemical Parameters and Their Predictive Value in Healthy and Overtrained Male Athletes: The EROS-CORRELATIONS Study.

The Endocrine and Metabolic Responses on Overtraining Syndrome (EROS) study identified multiple hormonal and metabolic conditioning processes in athletes, and underlying mechanisms and biomarkers of overtraining syndrome (OTS). The present study's objective was to reveal independent predictors and linear correlations among the parameters evaluated in the EROS study to predict clinical, metabolic, and biochemical behaviors in healthy and OTS-affected male athletes. We used multivariate linear regression and linear correlation to analyze possible combinations of the 38 parameters evaluated in the EROS study that revealed significant differences between healthy and OTS-affected athletes.

Basal Hormones and Biochemical Markers as Predictors of Overtraining Syndrome in Male Athletes: The EROS-BASAL Study.

Context: Overtraining syndrome (OTS) and related conditions cause decreased training performance and fatigue through an imbalance among training volume, nutrition, and recovery time. No definitive biochemical markers of OTS currently exist.

Objective: To compare muscular, hormonal, and inflammatory parameters among OTS-affected athletes, healthy athletes, and sedentary controls.

Clinical and biochemical characteristics of high-intensity functional training (HIFT) and overtraining syndrome: findings from the EROS study (The EROS-HIFT).

The metabolic and hormonal consequences of high-intensity functional training regimens such as CrossFit® (CF) are unclear. Little is known about the triggers and clinical and biochemical features of CF-related overtraining syndrome (OTS). The EROS study compared endocrine and metabolic responses, and eating, social, psychological and body characteristics of OTS-affected (OTS) and healthy athletes (ATL), and non-physically active controls (NPAC).

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant.

Inherited IL-12Rβ1 and TYK2 deficiencies impair both IL-12- and IL-23-dependent IFN-γ immunity and are rare monogenic causes of tuberculosis, each found in less than 1/600,000 individuals. We show that homozygosity for the common P1104A allele, which is found in about 1/600 Europeans and between 1/1000 and 1/10,000 individuals in regions other than East Asia, is more frequent in a cohort of patients with tuberculosis from endemic areas than in ethnicity-adjusted controls ( = 8.37 × 10; odds ratio, 89.

B-cell subsets imbalance and reduced expression of CD40 in ataxia-telangiectasia patients.

Background: Ataxia-telangiectasia (AT) is a well-known primary immunodeficiency with recurrent sinopulmonary infections and variable abnormalities in both the humoral and cellular immune system. Dysfunctions in immunoglobulin production, reduced number of B cells, and B-cell receptor excision circles copies have been reported. We aimed to understand the immunological mechanisms involving the humoral compartment in AT patients by analysing peripheral blood B cells subsets, B-T lymphocyte cooperation through the expression of CD40 and CD40 ligand (CD40L), and cytokines involved in class-switch recombination production.

Body composition, metabolism, sleep, psychological and eating patterns of overtraining syndrome: Results of the EROS study (EROS-PROFILE).

Overtraining syndrome (OTS) is caused by an imbalance between training, nutrition and resting, and leads to decreased performance and fatigue; however, the precise underlying triggers of OTS remain unclear. This study investigated the body composition, metabolism, eating, sleeping patterns and mood states among participants with OTS. Selected participants were divided into OTS-affected athletes (OTS, n = 14), healthy athletes (ATL, n = 25), and healthy non-physically active controls (NCS, n = 12).

Hormonal response to a non-exercise stress test in athletes with overtraining syndrome: results from the Endocrine and metabolic Responses on Overtraining Syndrome (EROS) - EROS-STRESS.

Objectives: Overtraining syndrome (OTS) leads to worsened sports performance and fatigue. The pathophysiology of OTS has not been entirely elucidated, and there is a lack of accurate markers for its diagnosis. Changes in hormonal responses implicated in OTS were stimulated by exercise, which has limited their interpretation.

Neutrophil oxidative burst activates ATM to regulate cytokine production and apoptosis.

Neutrophils play an essential role in the initial stages of inflammation by balancing pro- and antiinflammatory signals. Among these signals are the production of proinflammatory cytokines and the timely initiation of antiinflammatory cell death via constitutive apoptosis. Here we identify ataxia-telangiectasia mutated (ATM) kinase as a modulator of these neutrophil functions.

Peripheral blood mononuclear cells from severe asthmatic children release lower amounts of IL-12 and IL-4 after LPS stimulation.

Introduction: Asthma is an inflammatory disorder of the airways associated with bronchial hyperresponsiveness, airway obstruction, and increased mucus production, with a predominance of type 2 immune response (Th2). According to the hygiene hypothesis, exposure to environmental bacterial lipopolysaccharide (LPS) may induce a type 1 immune response (Th1), modulating the development of asthma.

Objective: In this study we investigated cytokine production by peripheral blood mononuclear cells (PBMC) from children and adolescents with severe asthma, in response to LPS stimulation in vitro.

Pulmonary venous flow index as a predictor of pulmonary vascular resistance variability in congenital heart disease with increased pulmonary flow: a comparative study before and after oxygen inhalation.

Aims: There is no definitive and reliable echocardiographic method for estimating the pulmonary vascular resistance (PVR) to differentiate persistent vascular disease from dynamic pulmonary hypertension. The aim of this study was to analyze the relationship between the pulmonary venous blood flow velocity-time integral (VTIpv) and PVR.

Methods And Results: Eighteen patients (10 females; 4 months to 22 years of age) with congenital heart disease and left to right shunt were studied.

Health education intervention in early and late postmenopausal Brazilian women.

Aim: To identify aspects of health in postmenopausal Brazilian women using a health-related educational program provided by a multidisciplinary team as part of the primary care approach for early and late postmenopausal symptoms.

Design: A prospective cohort was formed with 69 postmenopausal women; they were divided into groups corresponding to early (n = 32) and late postmenopause (n = 37) through gynecological and clinical evaluations. We administered the Kuppermann-Blatt Menopausal Index and the Women's Health Questionnaire before and after health education instructions.

Obstructive sleep apnea syndrome (OSAS) in mouth breathing children.

Unlabelled: It is well known that mouth breathing is associated with adenotonsillar hypertrophy - which is the main cause of obstructive sleep apnea among children. Despite the importance of this matter, there are only a handful of studies showing the relationship between OSAS and mouth breathing.

Aim: to determine the prevalence of obstructive sleep disorders in mouth breathing children and study its correlation with otorhinolaryngological findings.