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mechanisms in endocrinology

Hema Singh, Pradeep Tiwari, Vijay Bhavi, Praveen Singh Chaudhary, Prashanth Suravajhala, M Krishna Mohan, Sandeep Kumar Mathur
Background: Human height is a classic polygenic trait and currently available data explains only 10% of the phenotypic variation in height. Almost 60%-80% of the children coming to pediatric and endocrinology outpatient department for the evaluation of short stature are still labeled as idiopathic. Objectives: The aim of this study is to identify various chromosomal alterations causing idiopathic short stature (ISS) and short stature with dysmorphic features not pertaining to known genetic syndromes...
January 2018: Indian Journal of Endocrinology and Metabolism
Andrea S Grunst, Melissa L Grunst, Bert Thys, Thomas Raap, Natasha Daem, Rianne Pinxten, Marcel Eens
Anthropogenic contaminants could alter traits central to animal behavioral types, or personalities, including aggressiveness, boldness and activity level. Lead and other toxic metals are persistent inorganic pollutants that affect organisms worldwide. Metal exposure can alter behavior by affecting neurology, endocrinology, and health. However, the direction and magnitude of the behavioral effects of metal exposure remain equivocal. Moreover, the degree to which metal exposure simultaneously affects suites of correlated behavioral traits (behavioral syndromes) that are controlled by common mechanisms remains unclear, with most studies focusing on single behaviors...
February 26, 2018: Science of the Total Environment
Masahiro Oishi, Yasuhiko Hayashi, Yasuo Sasagawa, Daisuke Kita, Osamu Tachibana, Mitsutoshi Nakada
OBJECTIVES: It is well-known that Rathke's cleft cysts (RCCs) infrequently cause headache, endocrinological dysfunction, and visual disturbance, and in rare cases, cause diabetes insipidus (DI). Although surgical evacuation of the cyst content can result in high rates of symptomatic improvement, not only the treatment efficacy but also the pathophysiology of DI with RCC are undetermined. The aim of this study is to elucidate the underlying mechanisms and outcomes of DI associated with RCCs...
February 21, 2018: Clinical Neurology and Neurosurgery
Reetobrata Basu, Yanrong Qian, John J Kopchick
Growth hormone (GH) is produced primarily by anterior pituitary somatotroph cells. Numerous acute human (h) GH treatment and long-term follow-up studies and extensive use of animal models of GH action have shaped the body of GH research over the past 40-50 years. Work on the GH receptor (R) knock-out (GHRKO) mice and results of studies on GH resistant Laron Syndrome (LS) patients have helped define many physiological actions of GH including those dealing with metabolism, obesity, cancer, diabetes, cognition, and aging/longevity...
February 19, 2018: European Journal of Endocrinology
Eylem Levelt, Gaurav S Gulsin, Stefan Neubauer, Gerry P McCann
Heart failure is a major cause of morbidity and mortality in type 2 diabetes. Type 2 diabetes contributes to the development of heart failure through a variety of mechanisms, including disease specific myocardial structural, functional and metabolic changes. This review will focus on the contemporary contributions of state of the art non-invasive technologies to our understanding of diabetic cardiomyopathy, including data on cardiac disease phenotype, cardiac energy metabolism and energetic deficiency, ectopic and visceral adiposity, diabetic liver disease, metabolic modulation strategies, and cardiovascular outcomes with new classes of glucose lowering therapies...
February 12, 2018: European Journal of Endocrinology
Jessica P Hekman, Jennifer L Johnson, Whitney Edwards, Anastasiya V Vladimirova, Rimma G Gulevich, Alexandra L Ford, Anastasiya V Kharlamova, Yuri Herbeck, Gregory M Acland, Lori T Raetzman, Lyudmila N Trut, Anna V Kukekova
Domesticated species exhibit a suite of behavioral, endocrinological, and morphological changes referred to as "domestication syndrome." These changes may include a reduction in reactivity of the hypothalamic-pituitary-adrenal (HPA) axis, specifically reduced adrenocorticotropic hormone release from the anterior pituitary. To investigate the biological mechanisms targeted during domestication, we investigated gene expression in the pituitaries of experimentally domesticated foxes (Vulpes vulpes). RNA was sequenced from the anterior pituitary of six foxes selectively bred for tameness ("tame foxes") and six foxes selectively bred for aggression ("aggressive foxes")...
January 29, 2018: G3: Genes—Genomes—Genetics
Russell L Esterline, Allan Vaag, Jan Oscarsson, Jiten Vora
Type 2 diabetes (T2D) is associated with inhibition of autophagic and lysosomal housekeeping processes that detrimentally affect key organ functioning; a process likely to be exacerbated by conventional insulin-driven anabolic therapies. We propose that the cardio-renal benefits demonstrated with sodium-glucose cotransporter-2 inhibitor (SGLT2i) treatment in T2D partly may be explained by their ability to drive consistent, overnight periods of increased catabolism brought about by constant glucosuria. Key steps driving this catabolic mechanism include: a raised glucagon/insulin ratio initially depleting glycogen in the liver and ultimately activating gluconeogenesis utilizing circulating amino acids (AAs); a general fuel switch from glucose to free fatty acids (accompanied by a change in mitochondrial morphology from a fission to a sustained fusion state driven by a decrease in AA levels); a decrease in circulating AAs and insulin driving inhibition of mammalian target of rapamycin complex 1 (mTORC1), which enhances autophagy/lysosomal degradation of dysfunctional organelles, eventually causing a change in mitochondrial morphology from a fission to a sustained fusion state...
January 25, 2018: European Journal of Endocrinology
Silvia Monticone, Fabrizio Buffolo, Martina Tetti, Franco Veglio, Barbara Pasini, Paolo Mulatero
Aldosterone is the main mineralocorticoid hormone in humans and plays a key role in maintaining water and electrolyte homeostasis. Primary aldosteronism (PA), characterized by autonomous aldosterone overproduction by the adrenal glands, affects 6% of the general hypertensive population and can be either sporadic or familial. Aldosterone producing adenoma (APA) and bilateral adrenal hyperplasia (BAH) are the two most frequent subtypes of sporadic PA, and 4 forms of familial hyperaldosteronism (FH-I to FH-IV) have been identified...
January 18, 2018: European Journal of Endocrinology
David Skuse, Frida Printzlau, Jeanne Wolstencroft
Sex chromosome aneuploidies comprise a relatively common group of chromosome disorders characterized by the loss or gain of one or more sex chromosomes. We discuss five of the better-known sex aneuploidies: Turner syndrome (XO), Klinefelter syndrome (XXY), trisomy X (XXX), XYY, and XXYY. Despite their prevalence in the general population, these disorders are underdiagnosed and the specific genetic mechanisms underlying their phenotypes are poorly understood. Although there is considerable variation between them in terms of associated functional impairment, each disorder has a characteristic physical, cognitive, and neurologic profile...
2018: Handbook of Clinical Neurology
Mark Lyte, David R Brown
The ability of prokaryotic microbes to produce and respond to neurochemicals that are more often associated with eukaryotic systems is increasingly recognized through the concept of microbial endocrinology. Most studies have described the phenomena of neurochemical production by bacteria, but there remains an incomplete understanding of the mechanisms by which microbe- or host-derived neuroactive substances can be recognized by bacteria. Based on the evolutionary origins of eukaryotic solute carrier transporters, we hypothesized that bacteria may possess an analogous uptake function for neuroactive biogenic amines...
2018: PloS One
Silvia Fabiani, Poupak Fallahi, Silvia Martina Ferrari, Mario Miccoli, Alessandro Antonelli
Type 2 diabetes mellitus (T2DM) is an endocrine disorder encompassing multifactorial mechanisms, and chronic hepatitis C virus infection (CHC) is a multifaceted disorder, associated with extrahepatic manifestations, including endocrinological disorders. CHC and T2DM are associated, but the subject remains controversial. We performed a systematic review and meta-analysis evaluating such association, searching on PubMed until February 29, 2016. Inclusion criteria were: 1) presence of at least one internal control group age- and gender-matched (non-hepatopathic controls; and/or hepatopathic, not HCV-positive, controls); 2) sufficient data to calculate odds ratio and relative risk...
January 11, 2018: Reviews in Endocrine & Metabolic Disorders
Jacques Balthazart, Elena Choleris, Luke Remage-Healey
This brief commentary reviews key steps in the history of endocrinology that have resulted in important conceptual shifts. Our understanding of the "Fast Effects of Steroids" has now made substantial progress, including the major concept that steroids act rapidly on a variety of physiological and behavioral responses, via mechanisms that are too fast to be fully accounted for by classical receptor-dependent regulation of gene transcription. Several so-called 'non-classical' mechanisms have been identified and include binding to membrane receptors and regulating non genomic signaling cascades...
January 3, 2018: Hormones and Behavior
Alice Harding, Ulrike Gonder, Sarita J Robinson, StJohn Crean, Sim K Singhrao
Longitudinal monitoring of patients suggests a causal link between chronic periodontitis and the development of Alzheimer's disease (AD). However, the explanation of how periodontitis can lead to dementia remains unclear. A working hypothesis links extrinsic inflammation as a secondary cause of AD. This hypothesis suggests a compromised oral hygiene leads to a dysbiotic oral microbiome whereby Porphyromonas gingivalis, a keystone periodontal pathogen, with its companion species, orchestrates immune subversion in the host...
2017: Frontiers in Aging Neuroscience
Hitoshi Miyakawa, Tomomi Sato, You Song, Knut E Tollefsen, Taisen Iguchi
The two essential insect hormones, ecdysteroids and juvenile hormones, are possessed not only by insects, but also widely by arthropods, and regulate various developmental and physiological processes. In contrast to the abundant information about molecular endocrine mechanisms in insects, the knowledge of non-insect arthropod endocrinology is still limited. In this review, we summarize recent reports about the molecular basis of these two major insect hormones in the freshwater microcrustacean Daphnia, a keystone taxon in limnetic ecology and a bioindicator in environmental studies...
December 13, 2017: Journal of Steroid Biochemistry and Molecular Biology
Minh Tran, Steven L Shein, Xinge Ji, Sanjay P Ahuja
BACKGROUND: The incidence of venous thromboembolism (VTE) is rising among inpatients in US hospitals, especially among kids with central venous catheters (CVCs) in the pediatric intensive care unit (PICU). OBJECTIVES: To identify a sub-group of "VTE-rich" population among PICU children, and to assess the effect of VTE on morbidity and mortality. METHODS: Data was extracted from a multicenter Virtual PICU Database, or VPS, for children with a CVC and presence of a VTE...
January 2018: Thrombosis Research
Lyvonne N Tume, Reinis Balmaks, Eduardo da Cruz, Lynne Latten, Sascha Verbruggen, Frédéric V Valla
OBJECTIVES: To describe enteral feeding practices in pre and postoperative infants with congenital heart disease in European PICUs. DESIGN: Cross-sectional electronic survey. SETTING: European PICUs that admit infants with congenital heart disease pre- and postoperatively. PARTICIPANTS: One senior PICU physician or designated person per unit. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Fifty-nine PICUs from 18 European countries responded to the survey...
February 2018: Pediatric Critical Care Medicine
Tuomas Eerola, Jonna K Vuoskoski, Henna-Riikka Peltola, Vesa Putkinen, Katharina Schäfer
The recent surge of interest towards the paradoxical pleasure produced by sad music has generated a handful of theories and an array of empirical explorations on the topic. However, none of these have attempted to weigh the existing evidence in a systematic fashion. The present work puts forward an integrative framework laid out over three levels of explanation - biological, psycho-social, and cultural - to compare and integrate the existing findings in a meaningful way. First, we review the evidence pertinent to experiences of pleasure associated with sad music from the fields of neuroscience, psychophysiology, and endocrinology...
November 23, 2017: Physics of Life Reviews
Amanda J Saraf, Leena Nahata
Infertility is a distressing consequence of numerous pediatric medical conditions and treatments. The field of pediatric fertility preservation has expanded rapidly over the past decade, and clinical guidelines emphasize the importance of discussing infertility risk and fertility preservation options with patients and families in a timely manner. Understanding the various mechanisms and presentations of fertility issues across diagnoses is imperative to provide counseling to patients and families, and identify individuals who may benefit from fertility preservation...
October 2017: Translational Pediatrics
Jie Yuan, Xin Guo, Zhengang Liu, Xiuqin Zhao, Yan Feng, Sixin Song, Changmeng Cui, Pei Jiang
Previous studies have demonstrated that global cerebral ischemia (GCI) causes neurological deficits and neuronal cell apoptosis. Calcitriol, a biologically active metabolite of vitamin D, exerts its endocrinological influence via nuclear vitamin D receptor. It is being assessed as an emerging therapeutic strategy in models of various medical conditions, including acute brain injury. The purpose of the present study was to investigate the neuroprotective effects of calcitriol on GCI and further refine the potential underlying mechanisms...
November 9, 2017: International Journal of Molecular Medicine
Armelle Yart, Thomas Edouard
PURPOSE OF REVIEW: To provide an update on recent developments on Noonan syndrome with a special focus on endocrinology, bone, and metabolism aspects. The key issues still to be resolved and the future therapeutic perspectives will be discussed. RECENT FINDINGS: The discovery of the molecular genetic causes of Noonan syndrome and Noonan-syndrome-related disorders has permitted us to better understand the mechanisms underlying the different symptoms of these diseases and to establish genotype-phenotype correlations (in growth patterns for example)...
February 2018: Current Opinion in Endocrinology, Diabetes, and Obesity
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