De NVE selecteert regelmatig topartikelen. U vindt hier een lijst van topartikelen uit vele deelgebieden van de Endocrinologie. Warm aanbevolen !
LM: July 1, 2015
2015: Acid–Base Problems in Diabetic Ketoacidosis (NEJM)
This review focuses on three issues facing clinicians who care for patients with diabetic ketoacidosis; all of the issues are related to acid–base disorders. The first issue is the use of the plasma anion gap and the calculation of the ratio of the change in this gap to the change in the concentration of plasma bicarbonate in these patients; the second concerns the administration of sodium bicarbonate; and the third is the possible contribution of intracellular acidosis to the development of cerebral edema, particularly in children with diabetic ketoacidosis. In this article, we examine the available data and attempt to integrate the data with principles of physiology and metabolic regulation and provide clinical guidance.
2015: Management of endocrine disease: Cystic fibrosis-related diabetes: novel pathogenic insights opening new therapeutic avenues (EJE)
Cystic fibrosis (CF) is a recessive genetic disease caused by mutations in the CF transmembrane conductance regulator (CFTR). CFTR is primarily present in epithelial cells of the airways, intestine and in cells with exocrine and endocrine functions. Mutations in the gene encoding the channel protein complex (CFTR) cause alterations in the ionic composition of secretions from the lung, gastrointestinal tract, liver, and also the pancreas.
2015: Management of endocrine disease: pituitary tumor apoplexy (EJE)
Pituitary tumour apoplexy (PA) is a rare clinical syndrome that occurs as a result of acute haemorrhage and/or infarction within a frequently undiagnosed pituitary tumour. The sudden enlargement of the pituitary mass undergoing PA is responsible for a wide range of acute symptoms/signs (severe headache, visual loss, diplopia, hypopituitarism, impaired consciousness) which, together with the radiological evidence of a pituitary lesion, establish the diagnosis.
2015: Molecular Physiology of Water Balance (NEJM)
In this article, the authors review the classic, integrative principles of water balance. They use this model to discuss the role of underlying genes and gene products (proteins) in water balance and to provide a mechanistic basis for decisions about related disorders.
2014: Paget's Disease of Bone: An Endocrine Society Clinical Practice Guideline (JCEM)
The aim of this guideline was to formulate practice guidelines for the diagnosis and treatment of Paget's disease of the bone. The guideline was developed by an Endocrine Society-appointed Task Force of experts, a methodologist, and a medical writer. This evidence-based guideline was developed using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system to describe both the strength of recommendations and the quality of evidence.
One group meeting, several conference calls, and e-mail communications enabled consensus. Committees and members of The Endocrine Society and the European Society of Endocrinology reviewed and commented on preliminary drafts of these guidelines. Two systematic reviews were conducted to summarize supporting evidence.
2015: Pharmacological Management of Obesity: An Endocrine Society Clinical Practice Guideline (JCEM)
An Endocrine Society-appointed Task Force of experts, a methodologist, and a medical writer. This guideline was co-sponsored by the European Society of Endocrinology and The Obesity Society. This evidence-based guideline was developed using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system to describe the strength of recommendations and the quality of evidence.
One group meeting, several conference calls, and e-mail communications enabled consensus. Committees and members of the Endocrine Society, the European Society of Endocrinology, and The Obesity Society reviewed and commented on preliminary drafts of these guidelines. Two systematic reviews were conducted to summarize some of the supporting evidence.
2015: Neuroendocrine Causes of Amenorrhea - An Update
Secondary amenorrhea—the absence of menses for three consecutive cycles—affects approximately 3–4% of reproductive age women, and infertility—the failure to conceive after 12 months of regular intercourse—affects approximately 6–10%. Neuroendocrine causes of amenorrhea and infertility, including functional hypothalamic amenorrhea and hyperprolactinemia, constitute a majority of these cases.
In this review, the authors discuss the physiologic, pathologic, and iatrogenic causes of amenorrhea and infertility arising from perturbations in the hypothalamic-pituitary-adrenal axis, including potential genetic causes. They focus extensively on the hormonal mechanisms involved in disrupting the hypothalamic-pituitary-ovarian axis.
A thorough understanding of the neuroendocrine causes of amenorrhea and infertility is critical for properly assessing patients presenting with these complaints. Prompt evaluation and treatment are essential to prevent loss of bone mass due to hypoestrogenemia and/or to achieve the time-sensitive treatment goal of conception.
2014: Guidelines for the Management of Asymptomatic Primary Hyperparathyroidism
In view of new findings since the last International Workshop on the Management of Asymptomatic PHPT, guidelines for management have been revised. The revised guidelines include: 1) recommendations for more extensive evaluation of the skeletal and renal systems; 2) skeletal and/or renal involvement as determined by further evaluation to become part of the guidelines for surgery; and 3) more specific guidelines for monitoring those who do not meet guidelines for parathyroid surgery. These guidelines should help endocrinologists and surgeons caring for patients with PHPT. A blueprint for future research is proposed to foster additional investigation into issues that remain uncertain or controversial. (J Clin Endocrinol Metab 99: 3561–3569, 2014)
2014: Diagnostic Clinical Genome and Exome Sequencing (NEJM)
The use of clinical genome and exome sequencing for genetic diagnosis has grown substantially. This review provides guidance for clinicians seeking diagnostic confirmation of a disease suspected to be genetic in origin.