Review Articles in 2016

Vitamin and mineral deficiencies during pregnancy can have a major effect on neonatal development. In this Review, Gernand and colleagues discuss the evidence supporting the need for micronutrient supplementation and how it can benefit pregnancy, especially in low-income settings.

Improvements in the treatment of childhood cancers mean that most patients now survive to adulthood and are at increased risk of developing endocrine disorders. In this Review, Susan Rose and colleagues provide an overview of the late endocrine effects that can occur in these patients and outline recommendations for surveillance, diagnosis and management.

Epidemiological, clinical and pathology studies in humans support viral infection, particularly by enteroviruses, as an environmental trigger for the development of type 1 diabetes mellitus (T1DM). In this Review, Op de Beeck and Eizirik discuss potential mechanisms by which enteroviruses could contribute to the specific destruction of pancreatic β cells in T1DM, focusing on data obtained in clinical studies and human samples.

Here, Lodish and Stratakis discuss the genetic mutations that give rise to Cushing syndrome, specifically those leading to the dysregulation of cAMP-dependent protein kinase A signalling. The authors also highlight howARMC5mutations contribute to adrenocortical hyperplasia, and discuss the role of this knowledge in patient care.

Obstructive sleep apnoea is a common disorder, highly prevalent in patients with obesity and an independent risk factor for metabolic disease. Here, Gileles-Hillel and colleagues discuss the evidence from animal models and clinical studies of mechanisms linking obstructive sleep apnoea with metabolic dysfunction.

Theodore Friedman and colleagues discuss the metabolic effects of smoking cessation, focusing mainly on post-cessation weight gain. The authors highlight considerations for future smoking-cessation programs and therapies, which should be designed with an emphasis on reducing post-cessation weight gain.

Diabetic ketoacidosis, hyperglycaemic osmolar state and hypoglycaemia are serious complications of diabetes mellitus. Here, Guillermo Umpierrez and Mary Korytkowski discuss the clinical presentation, precipitating causes, diagnosis and acute management of these diabetic emergencies and suggest practical strategies for their prevention.

Bone morphogenetic proteins (BMPs) have been implicated in almost all aspects of bone, cartilage and joint biology. Here, Valerie Salazar and colleagues discuss BMP superfamily signalling in the context of skeletal development and joint morphogenesis, and summarize the status of the BMP pathway as a therapeutic target for treating skeletal trauma and disease.

Hypophosphatasia — a form of metabolic bone disease characterized by low serum alkaline phosphatase activity — results from loss-of-function mutations in the gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Here, Michael Whyte discusses the aetiology, nosology, pathogenesis, diagnosis and treatment of hypophosphatasia, which is particularly timely given the recently reported successes and approvals of treating the disease using asfotase alfa, a bone-targeted, recombinant TNSALP.

Since mutations in theRET proto-oncogene were discovered in thyroid carcinoma 20 years ago, research has focused on determining the prevalence of these alterations, their role in disease development and potential clinical applications. In this Review, the authors discuss these findings with respect to the pathogenic, diagnostic and prognostic roles of RETin patients with papillary thyroid carcinoma and medullary thyroid carcinoma.

Copeptin is derived from the same precursor as arginine vasopressin (AVP). Unlike AVP, copeptin is stable and readily assayed. In this Review, Christ-Crain and Fenske describe the use of copeptin as a marker for differential diagnosis of conditions within the polyuria–polydipsia syndrome.

A growing number of studies have shown changes to gut microbiota in children who go on to develop type 1 diabetes mellitus. This Review discusses the strengths and limitations of existing research, covering animal models of the disease and observational human studies. The technology used to characterize intestinal microbiota and recommendations for future studies are also addressed.