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Endocrinology advances

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https://www.readbyqxmd.com/read/28708305/a-novel-variant-of-dhh-in-a-familial-case-of-46-xy-disorder-of-sex-development-insights-from-molecular-dynamics-simulations
#1
Francoise Paris, Delphine Flatters, Sandrine Caburet, Bérangère Legois, Nadège Servant, Hervé Lefebvre, Charles Sultan, Reiner A Veitia
OBJECTIVE: Disorders of sex development (DSD) are a heterogeneous group of conditions affecting the differentiation and development of the internal and external genitalia. Here, we aimed at identifying the genetic cause of DSD in two 46,XY sisters from a consanguineous family. DESIGN: We performed a whole-exome sequencing of two 46,XY female individuals. Sanger sequencing was used to validate the most likely candidate variant, affecting the desert hedgehog (DHH) gene...
July 14, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28707167/supportive-care-for-patients-undergoing-immunotherapy
#2
Bernardo Leon Rapoport, Ronwyn van Eeden, Vincent Sibaud, Joel B Epstein, Jean Klastersky, Matti Aapro, Devan Moodley
Immune checkpoint inhibitors, a new class of cancer therapeutic agents, play an important role in the management of melanoma, NSCLC, and other malignancies. A workshop organized by three MASCC Study Groups: Oral Care, Skin Toxicities, and Neutropenia, Infection, and Myelosuppression during the MASCC Annual Meeting held in Adelaide, Australia on 23-25 June, 2016 focused on the new class of anti-cancer therapeutic agents. Topics in the workshop included the mechanism of action and clinical uses of immune anti-CTL4 and anti-PD1 antibodies, checkpoint inhibitor toxicities, including skin adverse events, gastrointestinal toxicities, oral complications, pulmonary toxicities, and endocrinological and immune-related infections...
July 13, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28705803/clinical-practice-guidelines-for-the-care-of-girls-and-women-with-turner-syndrome-proceedings-from-the-2016-cincinnati-international-turner-syndrome-meeting
#3
Claus H Gravholt, Niels H Andersen, Gerard S Conway, Olaf M Dekkers, Mitchell E Geffner, Karen O Klein, Angela E Lin, Nelly Mauras, Charmian A Quigley, Karen Rubin, David E Sandberg, Theo C J Sas, Michael Silberbach, Viveca Söderström-Anttila, Kirstine Stochholm, Janielle A van Alfen-van derVelden, Joachim Woelfle, Philippe F Backeljauw
Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016...
September 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28683238/endocrine-trainees-exhibit-sensitive-but-conservative-attitudes-towards-the-management-of-endocrine-conditions-in-hiv-patients-in-singapore
#4
Seow Cherng Jye, Chen Abel Weiliang, Hoi Wai Han, Rinkoo Dalan
Objective With advances in the treatment of HIV infections, the life expectancy of people living with HIV (PWH) is fast approaching that of the general population. Endocrine and metabolic disorders occur more frequently in PWH than in the general population. This study assesses the knowledge, practice patterns and confidence levels among endocrinology trainees in Singapore in managing endocrine disorders in PWH. Methods An anonymous 31-item survey was administered to 23 endocrinology trainees. Four domains were assessed: (1) Previous exposure to endocrine disorders in PWH; (2) Attitudes towards treating PWH; (3) Case studies in endocrinology designed to assess for differences in treatment philosophy between a PWH and a non-infected counterpart; and (4) Confidence in managing endocrine disorders in PWH...
July 6, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28642047/erectile-dysfunction-in-young-men-a-review-of-the-prevalence-and-risk-factors
#5
REVIEW
Hoang Minh Tue Nguyen, Andrew T Gabrielson, Wayne J G Hellstrom
INTRODUCTION: Erectile dysfunction (ED) is an important health concern that can significantly affect a man's psychosocial well-being. ED has traditionally been considered a disease of old age; however, contemporary evidence suggests a growing incidence of ED in men younger than 40 years. The process of achieving an erection is multifaceted; there are many potential mechanisms that can be disrupted. It is critical to identify the specific causes of ED before proceeding with potentially costly and invasive therapeutic options...
June 19, 2017: Sexual Medicine Reviews
https://www.readbyqxmd.com/read/28603206/clinical-practice-and-mechanism-of-endocrinological-adverse-events-associated-with-immune-checkpoint-inhibitors
#6
Shintaro Iwama, Hiroshi Arima
  Immune checkpoint inhibitors, used for cancer immunotherapy, show anti-tumor effects through T cell activations. Monoclonal antibodies against cytotoxic T lymphocyte antigen-4 (CTLA-4), programmed cell death (PD)-1, or PD-ligand 1 which is a ligand of PD-1 have been shown to be effective in the treatments of advanced cancers including malignant melanoma, non-small cell lung cancer, and renal cell carcinoma. However, these drugs also have immune-related adverse events (irAEs). The irAEs, which have unique characteristics different from those seen in conventional cytotoxic anti-tumor medicines, are observed in the several tissues such as skin, gastrointestinal tract, liver, lung, muscle, nerve and endocrine systems...
2017: Nihon Rinshō Men'eki Gakkai Kaishi, Japanese Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28601151/effect-of-season-and-age-on-scrotal-circumference-testicular-parameters-and-endocrinological-profiles-in-mithun-bulls
#7
P Perumal, N Savino, C T R Sangma, S Chang, T Z T Sangtam, M H Khan, G Singh, Brijesh Kumar, D Yadav, N Srivastava
Mithun is a domesticated free-range bovine species primarily used as a meat animal and is a pride of North Eastern Hilly regions of India. The present study was conducted to measure the effect of seasons on scrotal & testicular biometrics and endocrinological profiles for different age groups at different seasons in mithun bulls. A total of 30 mithun males were selected from the mithun breeding farm, ICAR-NRC on Mithun, Medziphema, Nagaland, India and were equally distributed into five groups based on their age...
August 2017: Theriogenology
https://www.readbyqxmd.com/read/28585130/factors-associated-with-peripheral-neuropathy-in-type-2-diabetes-subclinical-versus-confirmed-neuropathy
#8
Yogendranathsing Unmar, Mohammad Ishraq Zafar, Feng Gao
This study determined the prevalence of diabetic peripheral neuropathy (DPN) and subclinical DPN (sDPN) in patients with type 2 diabetes mellitus (T2DM) using nerve conduction study (NCS) as a diagnostic tool. We also investigated the factors associated with the development of sDPN and compared factors between the sDPN and confirmed DPN (cDPN). This cross-sectional study involved 240 T2DM patients who were successively admitted to the endocrinology wards of Wuhan Union Hospital over the period of January to December 2014...
June 2017: Journal of Huazhong University of Science and Technology. Medical Sciences
https://www.readbyqxmd.com/read/28576543/pycnodysostosis-at-otorhinolaryngology
#9
Tekin Baglam, Adem Binnetoglu, Muhammet Fatih Topuz, Nilay Baş Ikizoglu, Refika Ersu, Serap Turan, Murat Sarı
AIM: Pycnodysostosis is a rare autosomal, recessive, skeletal dysplasia caused by a mutation in the cathepsin k gene. Pycnodysostosis is characterized by short stature, characteristic facial appearance (delayed closure of fontanelles and cranial sutures, mandibular hypoplasia and angle disorder, blue sclera), and acroosteolysis of the distal phalanges. Our aim was to describe the otorhinolaryngologic findings, differential diagnoses, various treatment options, and followup in eight cases of pycnodysostosis...
April 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28529726/pancreatic-neuroendocrine-tumors-the-basics-the-gray-zone-and-the-target
#10
REVIEW
Dionysia Kelgiorgi, Christos Dervenis
Pancreatic neuroendocrine tumors (PanNETs) manifest with a range of symptoms and pose a therapeutic challenge. A team approach, in which many specialists come together, is necessary in the quest for the best patient-tailored treatment. Disciplines such as oncology, surgery, basic science, endocrinology, radiology, and nuclear medicine need to work side by side, equally contributing to patient care and to advancing our better understanding of this fascinating disease.
2017: F1000Research
https://www.readbyqxmd.com/read/28461074/vitamin-d-endocrinology-on-the-cross-road-between-immunity-and-metabolism
#11
REVIEW
An-Sofie Vanherwegen, Conny Gysemans, Chantal Mathieu
The effects of vitamin D on the immune function have been recognized for more than a quarter of a century. However, our understanding of the multifactorial nature of the effects of vitamin D at the cellular, molecular and metabolic level in different immune subsets of the innate and adaptive system has dramatically progressed during the last decades. In this review, we summarize the main metabolic pathways preferentially used in different subsets of T cells, B cells, macrophages and dendritic cells as well as the immunomodulatory effects of vitamin D on these cells...
April 28, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28450305/mechanisms-in-endocrinology-update-on-pathogenesis-of-primary-adrenal-insufficiency-beyond-steroid-enzyme-deficiency-and-autoimmune-adrenal-destruction
#12
Christa Flueck
Primary adrenal insufficiency (PAI) is potentially life threatening, but rare. In children genetic defects prevail, while adults suffer mostly from acquired forms. The spectrum of genetic defects has increased in recent years with the use of next generation sequencing methods and reaches now far beyond genetic defects in known enzymes of steroidogenesis. Cofactor disorders such as P450 oxidoreductase (POR) deficiency manifesting as a complex form of congenital adrenal hyperplasia with a broad clinical phenotype have come to the forth...
April 27, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28444663/transcriptional-coactivator-p300-and-silent-information-regulator-1-sirt1-gene-polymorphism-associated-with-diabetic-kidney-disease-in-a-chinese-cohort
#13
Kang Tang, Mingfang Sun, Jing Shen, Bo Zhou
One of the most serious complications of diabetes mellitus, which could lead to end-stage renal disease across all demographics, is 'diabetic kidney disease'. However, how diabetic kidney disease develops remains unclear. Studies conducted thus far suggest that a major factor in the origination and development of the disease occurs through histone acetylation modifications. This study aims to examine the probable relationship in Chinese patients suffering from type 2 diabetes. A case-control study was conducted in the Chongqing region of China on the Chinese Han population...
April 25, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28352941/easl-easd-easo-clinical-practice-guidelines-for-the-management-of-non-alcoholic-fatty-liver-disease-in-severely-obese-people-do-they-lead-to-over-referral
#14
Emilie Blond, Emmanuel Disse, Charlotte Cuerq, Jocelyne Drai, Pierre-Jean Valette, Martine Laville, Charles Thivolet, Chantal Simon, Cyrielle Caussy
AIMS/HYPOTHESIS: We aimed to assess the application of the recent European Association for the Study of the Liver (EASL)-European Association for the Study of Diabetes (EASD)-European Association for the Study of Obesity (EASO) clinical practice guidelines for the management of non-alcoholic fatty liver disease (NAFLD) in severely obese individuals in routine clinical practice. METHODS: We performed a single-centre retrospective observational study of 385 patients referred for severe obesity (BMI ≥ 35 kg/m(2)) to our Endocrinology, Diabetes and Nutrition department, between 1 November 2014 and 31 December 2015...
March 28, 2017: Diabetologia
https://www.readbyqxmd.com/read/28253515/growth-promotion-ethics-and-the-challenge-to-resist-cosmetic-endocrinology%C3%A2
#15
David B Allen
The advancement of "human growth hormone (hGH)-for-height" - increasing height attainment in children short for reasons other than GH deficiency - arose from intuitive, deep-seated assumptions about the disability of short stature, its improvement with hGH-mediated height gain, and the safety of escalating dosages of hGH in healthy children. Evidence challenging these assumptions now strengthens criticism of hGH-for-height as cosmetic endocrinology. To counter this characterization, collective acceptance of guidelines is needed that advise nontreatment of the vast majority of short children, support strategies that minimize treatment duration and dosage, and restrain enhancement of normal adult stature...
2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28220105/acth-receptor-mc2r-specificity-what-do-we-know-about-underlying-molecular-mechanisms
#16
REVIEW
Davids Fridmanis, Ance Roga, Janis Klovins
Coincidentally, the release of this Research Topic in Frontiers in Endocrinology takes place 25 years after the discovery of the adrenocorticotropic hormone receptor (ACTHR) by Mountjoy and colleagues. In subsequent years, following the discovery of other types of mammalian melanocortin receptors (MCRs), ACTHR also became known as melanocortin type 2 receptor (MC2R). At present, five types of MCRs have been reported, all of which share significant sequence similarity at the amino acid level, and all of which specifically bind melanocortins (MCs)-a group of biologically active peptides generated by proteolysis of the proopiomelanocortin precursor...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28210908/updates-in-outcomes-of-stereotactic-radiation-therapy-in-acromegaly
#17
REVIEW
Monica Livia Gheorghiu
Purpose Treatment of acromegaly has undergone important progress in the last 20 years mainly due to the development of new medical options and advances in surgical techniques. Pituitary surgery is usually first-line therapy, and medical treatment is indicated for persistent disease, while radiation (RT) is often used as third-line therapy. The benefits of RT (tumor volume control and decreased hormonal secretion) are hampered by the long latency of the effect and the high risk of adverse effects. Stereotactic RT methods have been developed with the aim to provide more precise targeting of the tumor with better control of the radiation dose received by the adjacent brain structures...
February 2017: Pituitary
https://www.readbyqxmd.com/read/28207416/are-aromatase-inhibitors-in-boys-with-predicted-short-stature-and-or-rapidly-advancing-bone-age-effective-and-safe
#18
Jessica A Ferris, Mitchell E Geffner
BACKGROUND: The aim of this study was to assess aromatase inhibitor (AI) efficacy in increasing predicted adult height (PAH) and to describe clinical and biochemical safety profiles of AI-treated boys. METHODS: A retrospective chart review was conducted at an academic children's hospital endocrinology clinic. Twenty-one boys with predicted short stature and/or rapidly advancing bone age, divided as Tanner stage (TS) I-III Group 1 (G1, n=9) and TS IV-V Group 2 (G2, n=12), were treated with AIs, either letrozole or anastrozole (mean duration, G1: 2...
March 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28185765/proceedings-of-the-2016-santa-fe-bone-symposium-new-concepts-in-the-management-of-osteoporosis-and-metabolic-bone-diseases
#19
REVIEW
E Michael Lewiecki, John P Bilezikian, Susan V Bukata, Pauline Camacho, Bart L Clarke, Michael R McClung, Paul D Miller, John Shepherd
The Santa Fe Bone Symposium is an annual meeting of healthcare professionals and clinical researchers that details the clinical relevance of advances in knowledge of skeletal diseases. The 17th Santa Fe Bone Symposium was held in Santa Fe, New Mexico, USA, on August 5-6, 2016. The program included plenary lectures, oral presentations by endocrinology fellows, meet-the-professor sessions, and panel discussions, all aimed to provide ample opportunity for interactive discussions among all participants. Symposium topics included recent developments in the translation of basic bone science to patient care, new clinical practice guidelines for postmenopausal osteoporosis, management of patients with disorders of phosphate metabolism, new and emerging treatments for rare bone diseases, strategies to enhance fracture healing, and an update on Bone Health Extension for Community Healthcare Outcomes, using a teleconferencing platform to elevate the level of knowledge of healthcare professionals in underserved communities to deliver best practice care for skeletal diseases...
April 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28153797/dissecting-the-role-of-regulators-of-thyroid-hormone-availability-in-early-brain-development-merits-and-potential-of-the-chicken-embryo-model
#20
Pieter Vancamp, Veerle M Darras
Thyroid hormones (THs) are important mediators of vertebrate central nervous system (CNS) development, thereby regulating the expression of a wide variety of genes by binding to nuclear TH receptors. TH transporters and deiodinases are both needed to ensure appropriate intracellular TH availability, but the precise function of each of these regulators and their coaction during brain development is only partially understood. Rodent knockout models already provided some crucial insights, but their in utero development severely hampers research regarding the role of TH regulators during early embryonic stages...
January 30, 2017: Molecular and Cellular Endocrinology
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