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Reviews in Endocrine & Metabolic Disorders

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https://www.readbyqxmd.com/read/29956047/an-overview-of-inborn-errors-of-metabolism-manifesting-with-primary-adrenal-insufficiency
#1
REVIEW
Fady Hannah-Shmouni, Constantine A Stratakis
Primary adrenal insufficiency (PAI) results from an inability to produce adequate amounts of steroid hormones from the adrenal cortex. The most common causes of PAI are autoimmune adrenalitis (Addison's disease), infectious diseases, adrenalectomy, neoplasia, medications, and various rare genetic syndromes and inborn errors of metabolism that typically present in childhood although late-onset presentations are becoming increasingly recognized. The prevalence of PAI in Western countries is approximately 140 cases per million, with an incidence of 4 per 1,000,000 per year...
June 28, 2018: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/29926323/disorders-of-mitochondrial-long-chain-fatty-acid-oxidation-and-the-carnitine-shuttle
#2
REVIEW
Suzan J G Knottnerus, Jeannette C Bleeker, Rob C I Wüst, Sacha Ferdinandusse, Lodewijk IJlst, Frits A Wijburg, Ronald J A Wanders, Gepke Visser, Riekelt H Houtkooper
Mitochondrial fatty acid oxidation is an essential pathway for energy production, especially during prolonged fasting and sub-maximal exercise. Long-chain fatty acids are the most abundant fatty acids in the human diet and in body stores, and more than 15 enzymes are involved in long-chain fatty acid oxidation. Pathogenic mutations in genes encoding these enzymes result in a long-chain fatty acid oxidation disorder in which the energy homeostasis is compromised and long-chain acylcarnitines accumulate. Symptoms arise or exacerbate during catabolic situations, such as fasting, illness and (endurance) exercise...
June 20, 2018: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/29922964/innate-immune-cells-in-the-adipose-tissue
#3
REVIEW
Kyoung-Jin Chung, Marina Nati, Triantafyllos Chavakis, Antonios Chatzigeorgiou
Immune cells are present in the adipose tissue (AT) and regulate its function. Under lean conditions, immune cells predominantly of type 2 immunity, including eosinophils, M2-like anti-inflammatory macrophages and innate lymphoid cells 2, contribute to the maintenance of metabolic homeostasis within the AT. In the course of obesity, pro-inflammatory immune cells, such as M1-like macrophages, prevail in the AT. Inflammation in the obese AT is associated with the development of metabolic complications such as insulin resistance, type 2 diabetes and cardiovascular disease...
June 19, 2018: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/29922963/endocrine-treatment-of-aging-transgender-people
#4
REVIEW
Louis J Gooren, Guy T'Sjoen
High quality empirical data assessing morbidity and mortality and cancer incidence among transgender people are almost non-existent. Sex hormone treatment of conditions in older non-transgender people might as yet be taken as the best available analogy to hormone administration to aging transgender persons. Testosterone administration to transgender men carries little risk with regard to cardiovascular disease and cancer. A dose adaptation may be needed in men with a high hematocrit or cardiac insufficiency...
June 19, 2018: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/29922962/gaps-in-transgender-medical-education-among-healthcare-providers-a-major-barrier-to-care-for-transgender-persons
#5
REVIEW
Sira Korpaisarn, Joshua D Safer
A lack of access to knowledgeable providers is the greatest reported barrier to care for transgender individuals. The purpose of this manuscript is to review the recent literature characterizing transgender medicine education for medical providers and to summarize effective interventions for improving education in transgender care. The PubMed database was searched for all literature that assessed transgender medical education among physicians or trainees and all papers that reported results of transgender-specific educational interventions...
June 19, 2018: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/29948572/thyroid-diseases-and-skin-autoimmunity
#6
REVIEW
Enke Baldini, Teresa Odorisio, Chiara Tuccilli, Severino Persechino, Salvatore Sorrenti, Antonio Catania, Daniele Pironi, Giovanni Carbotta, Laura Giacomelli, Stefano Arcieri, Massimo Vergine, Massimo Monti, Salvatore Ulisse
The skin is the largest organ of the body, at the boundary with the outside environment. Primarily, it provides a physical and chemical barrier against external insults, but it can act also as immune organ because it contains a whole host of immune-competent cells of both the innate and the adaptive immune systems, which cooperate in eliminating invading pathogens following tissue injury. On the other hand, improper skin immune responses lead to autoimmune skin diseases (AISD), such as pemphigus, bullous pemphigoid, vitiligo, and alopecia...
June 15, 2018: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/29777474/not-quite-type-1-or-type-2-what-now-review-of-monogenic-mitochondrial-and-syndromic-diabetes
#7
REVIEW
Roseanne O Yeung, Fady Hannah-Shmouni, Karen Niederhoffer, Mark A Walker
Diabetes mellitus is a heterogeneous group of conditions defined by resultant chronic hyperglycemia. Given the increasing prevalence of diabetes mellitus and the increasing understanding of genetic etiologies, we present a broad review of rare genetic forms of diabetes that have differing diagnostic and/or treatment implications from type 1 and type 2 diabetes. Advances in understanding the genotype-phenotype associations in these rare forms of diabetes offer clinically available examples of evolving precision medicine where defining the correct genetic etiology can radically alter treatment approaches...
May 18, 2018: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/29527619/how-should-incidental-nen-of-the-pancreas-and-gastrointestinal-tract-be-followed
#8
REVIEW
Riccardo Ariotti, Stefano Partelli, Francesca Muffatti, Valentina Andreasi, Francesca Della Sala, Massimo Falconi
Neuroendocrine gastro-entero-pancreatic neoplasms (GEP-NENs) constitute a heterogeneous group of tumors, whose incidence has increased over the years. The most frequent site for primary disease is the stomach followed by small and large intestine, and pancreas. In the last decade, a dramatic growing in the incidence of small, incidental GEP-NENs has been recorded. In parallel, an increasing attitude toward more conservative approaches instead of surgical management has being widely spreading. This is particularly true for small, asymptomatic, pancreatic NEN as for these tumor forms an active surveillance has proven to be safe and feasible...
March 12, 2018: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/29497930/hyperammonemia-and-lactic-acidosis-in-adults-differential-diagnoses-with-a-focus-on-inborn-errors-of-metabolism
#9
REVIEW
Michel Tchan
The adult endocrinologist may be asked to consult on a patient for unexplained biochemical disturbances that could be caused by an underlying inborn error of metabolism. A genetic disorder is generally less likely to be the cause as these disorders are individually rare, however inborn errors of metabolism are collectively not infrequent and important to consider as they may be treatable and tragic outcomes avoided. Hyperammonemia or lactic acidosis are most often secondary markers of an acquired primary disease process, but they may be a clue to the presence of a genetic disorder...
March 1, 2018: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/29464446/supportive-therapy-in-gastroenteropancreatic-neuroendocrine-tumors-often-forgotten-but-important
#10
REVIEW
Xi-Feng Jin, Matilde P Spampatti, Christine Spitzweg, Christoph J Auernhammer
Neuroendocrine tumors (NETs) are a group of rare and heterogeneous malignancies that can develop in various organs. A significant number of gastroenteropancreatic neuroendocrine tumours (GEP-NETs) is functionally active and presents with symptoms related to the secretion of biologically active substances, leading to the development of distinct clinical syndromes. There are various therapeutic approaches for GEP-NETs, including curative surgery, palliative surgery, local-ablative and loco-regional therapies as well as systemic therapeutic options including peptide receptor radionuclide therapy, cytotoxic therapy, and molecularly targeted therapies...
February 20, 2018: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/29322398/hepatitis-c-virus-infection-and-development-of-type-2-diabetes-mellitus-systematic-review-and-meta-analysis-of-the-literature
#11
REVIEW
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
https://www.readbyqxmd.com/read/29480376/neuroendocrine-neoplasms-still-a-challenge-despite-major-advances-in-clinical-care-with-the-development-of-specialized-guidelines
#12
EDITORIAL
Stephan Petersenn, Christian A Koch
No abstract text is available yet for this article.
December 2017: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/29417306/editorial-neuroendocrine-neoplasms
#13
EDITORIAL
Christian A Koch, Stephan Petersenn
No abstract text is available yet for this article.
December 2017: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/29359266/the-place-of-liver-transplantation-in-the-treatment-of-hepatic-metastases-from-neuroendocrine-tumors-pros-and-cons
#14
REVIEW
Carlo Sposito, Michele Droz Dit Busset, Davide Citterio, Marco Bongini, Vincenzo Mazzaferro
Liver metastases occur in nearly half of NET patients (MNETs) and heavily affect prognosis, with 5-yr. OS around 19-38%. Although it is difficult to show outcome differences for available treatments, due to the long course of disease, surgery for MNETs remains the most effective option in terms of survival and symptom control. Since MNETs frequently present as an oligo-metastatic, liver-limited disease, unresectable in 80% of cases, liver transplantation (LT) has emerged as a potential curative treatment. Nevertheless, experience with LT for MNETs is limited and burdened by highly heterogeneous outcomes and significant recurrence rate, mostly explained by the variability of selection criteria...
December 2017: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/29256148/hormone-secreting-gastro-entero-pancreatic-neuroendocrine-neoplasias-gep-nen-when-to-consider-how-to-diagnose
#15
REVIEW
Christian Fottner, Martina Ferrata, Matthias M Weber
Neuroendocrine neoplasms of the digestive system (GEP-NEN) represent a heterogeneous group of malignancies with various clinical presentation and prognosis. GEP-NENs can potentially affect all organs of the gastrointestinal tract; characteristically they share the biological property to produce and secrete peptides and neuroamines. About 30% of GEP-NENs are hormonally active and can cause specific clinical syndromes. The clinical presentation mainly depends on the primary site of the tumor and its functionality...
December 2017: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/29199361/management-of-neuroendocrine-tumors-of-unknown-primary
#16
REVIEW
Krystallenia Alexandraki, Anna Angelousi, Georgios Boutzios, Georgios Kyriakopoulos, Dimitra Rontogianni, Gregory Kaltsas
Neuroendocrine neoplams (NENs) are mostly relatively indolent malignancies but a significant number have metastatic disease at diagnosis mainly to the liver. Although in the majority of such cases the primary origin of the tumor can be identified, in approximately 11-22% no primary tumor is found and such cases are designated as NENs of unknown primary origin (UPO). This has significant therapeutic implications with respect to potentially resectable hepatic disease and/or application of appropriate medical therapy, either chemotherapeutic agents or targeted treatment, as the response to various treatments varies according to the origin of the primary tumor...
December 2017: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/29127554/is-there-any-role-for-minimally-invasive-surgery-in-net
#17
REVIEW
M Thomaschewski, H Neeff, T Keck, H P H Neumann, T Strate, E von Dobschuetz
Neuroendocrine tumors (NET) represent the variability of almost benign lesions either secreting hormones occurring as a single lesion up to malignant lesions with metastatic potential. Treatment of NET is usually performed by surgical resection. Due to the rarity of NET, surgical treatment is mainly based on the experience and recommendations of experts and less on the basis of prospective randomized studies. In addition, the development and establishment of new surgical procedures is made more difficult by their rarity...
December 2017: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/29080935/echocardiography-in-functional-midgut-neuroendocrine-tumors-when-and-how-often
#18
REVIEW
Javier G Castillo, Tara Naib, Jerome S Zacks, David H Adams
The management of patients with midgut neuroendocrine tumors (MNET) is rapidly evolving. Current preoperative detection rates of primary tumor sites are higher than ever and progression-free survival in patients with already advanced disease is expanding due to the implementation of novel efficacious treatment strategies. This survival benefit may potentially translate into a need for a multidisciplinary approach to an even more heterogenous variety of clinical conditions, among these, carcinoid syndrome (CS) and carcinoid heart disease (CHD)...
December 2017: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/28975561/liver-transarterial-embolizations-in-metastatic-neuroendocrine-tumors
#19
REVIEW
Louis de Mestier, Magaly Zappa, Olivia Hentic, Valérie Vilgrain, Philippe Ruszniewski
The management of patients with well-differentiated neuroendocrine tumors (NET) and non-resectable liver metastases is challenging. Liver-directed transarterial embolization (TAE), transarterial chemo-embolization (TACE) and selective internal radiation therapy (SIRT) have a place of choice among other treatment modalities. However, their utilization relies on a low level of proof, due to the lack of prospective data, the absence of comparative studies and considerable heterogeneity between local practices...
December 2017: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/28965289/when-should-genetic-testing-be-performed-in-patients-with-neuroendocrine-tumours
#20
REVIEW
Triona O'Shea, Maralyn Druce
Neuroendocrine tumours (NETs) are a heterogenous group of tumours arising from neuroendocrine cells in several sites around the body. They include tumours of the gastroenteropancreatic system, phaeochromocytoma and paraganglioma and medullary thyroid cancer. In recent years, it has become increasingly apparent that a number of these tumours arise as a result of germline genetic mutations and are inherited in an autosomal dominant pattern. The number of genes implicated is increasing rapidly. Identifying which patients are likely to have a germline mutation enables clinicians to counsel patients adequately about their future disease risk, and allows for earlier detection of at-risk patients through family screening...
December 2017: Reviews in Endocrine & Metabolic Disorders
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