Search results for "endocrine"

Hair Cortisol Concentration as a Biomarker of Sleep Quality and Related Disorders

2021

Cortisol is the end product of the hypothalamic-pituitary-adrenal (HPA) axis, and its production is increased mainly in stressful situations or in chronic disorders accompanied by stress enhancement. Altered cortisol concentrations have been reported in a number of neuropsychiatric diseases and sleep disorders. Cortisol concentrations have been measured using several methods, and in several matrixes, such as blood, saliva, and urine. However, lately, hair cortisol, for several reasons, has emerged as a promising biomarker of long-term retrospective HPA activation. Several experimental approaches for cortisol measurement with the corresponding concentration reference ranges and a summary of …

Substrate specificity overlap and interaction between Adrenoleukodystrophy protein (ALDP/ABCD1) and Adrenoleukodystrophy-related protein (ALDRP/ABCD2)

2011

X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene, which encodes a peroxisomal member of the ATP-binding cassette (ABC) transporter subfamily D called ALDP. ALDP is supposed to function as a homodimer allowing the entry of CoA-esters of very-long chain fatty acids (VLCFA) into the peroxisome, the unique site of their β-oxidation. ALDP deficiency can be corrected by overexpression of ALDRP, its closest homolog. However, the exact nature of the substrates transported by ALDRP and its relationships with ALDP still remain unclear. To gain insight into the function of ALDRP, we used cell models allowing the induction in a dose-dependent m…

ANKRD26-RET - A novel gene fusion involving RET in papillary thyroid carcinoma

2018

Abstract Background Rearrangements of RET are drivers of oncogenesis, traceable in different cancer types as papillary thyroid carcinoma (PTC), non-small cell lung cancer, colorectal or breast cancer. Anchored multiplex PCR based next-generation sequencing (NGS) can detect RET rearrangements involving previously unknown partner genes. Methods A sample of PTC underwent NGS, following detection of RET rearrangement by fluorescence in situ hybridization. Expression analysis of ANKRD26 and RET was performed for the tumor harboring ANKRD26-RET, for corresponding normal thyroid tissue and PTC tumors with representative genetic alterations (BRAFV600E, CCDC6-RET), complemented by a comparative sear…

Evidence of oxidative stress in very long chain fatty acid--treated oligodendrocytes and potentialization of ROS production using RNA interference-di…

2011

X-linked adrenoleukodystrophy (X-ALD) and pseudo neonatal adrenoleukodystrophy (P-NALD) are neurodegenerative demyelinating diseases resulting from the functional loss of the peroxisomal ATP-binding cassette transporter D (ABCD1) and from single peroxisomal enzyme deficiency (Acyl-CoA oxidase1: ACOX1), respectively. As these proteins are involved in the catabolism of very long chain fatty acids (VLCFA: C24:0, C26:0), X-ALD and P-NALD patients are characterized by the accumulation of VLCFA in plasma and tissues. Since peroxisomes are involved in the metabolism of reactive oxygen species (ROS) and nitrogen species (RNS), we examined the impact of VLCFA on the oxidative status of 158N murine o…

Follow-up in transthyretin familial amyloid polyneuropathy: Useful investigations

2020

Patients with transthyretin amyloid polyneuropathy (TTR-FAP) and asymptomatic mutation-carriers have to be regularly followed-up in order to identify disease progression and the time point for starting or modifying therapy. In this case series we describe the potential suitability of different variables as progression markers. We retrospectively analyzed the follow-up charts of 10 TTR-FAP patients. Clinical examination included the Neuropathy Impairment Score of Lower Limb (NIS-LL), temperature perception thresholds, nerve conduction and autonomic function tests. The NIS-LL had the greatest value for a sensitive and correct follow-up for all TTR-FAP stages. All other examinations provided u…

Reproductive Dysfunction in Classical and Nonclassical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

2021

Patients with congenital adrenal hyperplasia (CAH) both with severe (classical CAH) and mild (nonclassical NCAH) forms exhibit a wide spectrum of reproductive dysfunction. In this review, only CAH cases with 21-hydroxylase deficiency (21-OHd) will be discussed, as they represent almost all of the patients in reproductive clinical settings.

PCOS Phenotypes: Impact on Fertility

2018

Polycystic ovary syndrome (PCOS) is characterised by an extreme heterogeneity and at least four main phenotypes may be distinguished. In referred population, anovulatory hyperandrogenic phenotype (classic PCOS or phenotypes A and B) is by far the most common phenotype and presents the most severe endocrine and metabolic alterations. Ovulatory PCOS and normoandrogenic phenotype represent a mild form of PCOS that is more common in general population and/or (normoandrogenic) in some particular ethnic group. During their life, because of changes in lifestyle or because of spontaneous changes in ovarian and adrenal androgen secretion that occur during late reproductive age, patients may move fro…

SP1-5 Endocrine, nutritional and metabolic diseases as associated causes of death in older women in Rio de Janeiro, Brazil

2011

Introduction Changes in lifestyle contributed to an increased incidence and mortality from endocrine, nutritional and metabolic diseases in developing countries. The aim of this study was to evaluate the burden of these diseases as a cause of death in older women in a Brazilian city. Methods All deaths of women aged 70 years or older, occurring in Rio de Janeiro, between 2003 and 2006, were identified in the Mortality Information System, a population-based nationwide registry. Death certificates with an ICD 10 Chapter IV code (E00-E90) were selected. When the code corresponded to the underlying cause, its subgroup was determined (endocrine, nutritional or metabolic diseases) and the associa…

2021

BACKGROUND Studies investigating a potential association between hypothyroidism and non-alcoholic fatty liver disease (NAFLD) showed conflicting results and large-scale population-based data from Germany on this topic are currently missing. OBJECTIVE It was the aim of this analysis to investigate the impact of thyroid gland disorders on the prevalence of NAFLD in Germany. METHODS In this case-control study, using the German disease Analyzer database (IQVIA), NAFLD patients were matched to patients without NAFLD by age, sex, index year, treating physician, diabetes mellitus type II, and obesity. The main outcome of the study was an association between thyroid gland disorders (hypothyroidism,…

Elaboration of a method to categorize substances of interest as regards to their potential endocrine disrupting activity: assessment and categorizati…

2021

EDCs are substances that alter function(s) of the endocrine system and consequently cause adverse health effects. The endocrine system consists of many cells and tissues that interact with each other and the rest of the body by means of hormones. This system is responsible for controlling a large number of processes in the body from gamete formation, to conception and early developmental processes such as organogenesis, and to most tissue and organ functions throughout life. EDCs interfere with endocrine function by many ways and, in doing so, lead to adverse effects on the health of humans and/or wildlife. Some of the observed health effects associated with EDCs include, butare not limited…