Primers in 2019

Diabetic neuropathy is a complication of diabetes mellitus that results in loss of sensory function beginning in the extremities. This Primer summarizes the epidemiology, mechanisms, diagnosis and treatment of diabetic nephropathy and discusses the quality-of-life issues faced by patients.

ST-segment elevation myocardial infarction (STEMI) is an acute coronary syndrome in which transmural ischaemia (mostly caused by the formation of a thrombus on a ruptured atherosclerotic plaque) leads to cardiomyocyte death. STEMI is associated with considerable morbidity and mortality worldwide.

Male hypogonadism is a disorder associated with low testosterone levels and impaired spermatogenesis. The condition can arise from inherent defects in the testes or abnormalities in the regulation of testosterone secretion at the hypothalamic or pituitary level. This Primer summarizes the conditions that can lead to hypogonadism in boys and men.

Barrett oesophagus (BE) is a precursor lesion to oesophageal adenocarcinoma and involves intestinal metaplasia (replacement of squamous epithelium with columnar epithelium) in response to gastro-oesophageal reflux. This Primer summarizes the latest research about BE, including improvements in treatment and disease management.

Dilated cardiomyopathy (DCM) is characterized by ventricular enlargement and impaired contractility without an underlying ischaemic origin. DCM has heterogeneous aetiologies (including gene mutations, infections and inflammation) and clinical presentations and can eventually result in heart failure.

Myasthenia gravis is an autoimmune disorder that is caused by autoantibodies against components of the neuromuscular junction. This Primer summarizes the epidemiology, mechanisms, diagnosis and treatment of myasthenia gravis and discusses the quality-of-life issues faced by patients.

Oesophageal atresia (EA) is a congenital abnormality of the oesophagus that is caused by incomplete embryonic compartmentalization of the foregut. This Primer summarizes the latest research in the field of EA, including recommendations on the management and long-term follow-up of patients born with EA.

The spinocerebellar ataxias (SCAs) are a group of autosomal dominant progressive disorders characterized by loss of balance and coordination and slurred speech. This Primer discusses the epidemiology of SCAs, the complex mechanisms underlying them and how they are diagnosed and managed in the clinic.

As a result of surgery or radiotherapy as treatment for cancer, functional components of the lymphatic system are partially removed or damaged, resulting in lymphoedema (accumulation of extracellular fluid in tissues). This Primer discusses this important adverse effect of cancer treatment that has substantial effects on the quality of life of patients.

Acromegaly is a hormonal disorder that is usually caused by a growth hormone-secreting pituitary tumour. This Primer by Colao and colleagues reviews the pathogenesis, diagnosis and management of acromegaly and discusses the quality of life of patients and future outlooks.

Acute respiratory distress syndrome (ARDS) is the rapid onset of noncardiogenic pulmonary oedema, hypoxaemia and the need for mechanical ventilation in hospitalized patients. This Primer describes the risk factors for ARDS, the underlying pulmonary damage and repair in ARDS and the long-term consequences for survivors.

Pulmonary alveolar proteinosis comprises a group of diseases with different pathogenetic mechanisms but a common outcome — the progressive accumulation of alveolar surfactant in the lungs and dysfunction of alveolar macrophages, which result in respiratory failure and increased risk of secondary infections.

Radiotherapy is used in >50% of patients with cancer but may be associated with short-term toxicity and long-term consequences. This Primer summarizes the mechanisms by which normal tissues are affected by irradiation, the techniques to mitigate such damage and how to treat the symptoms of radiotherapy toxicity.

This Primer by Pfister and colleagues reviews the molecular genetics, diagnosis and management of medulloblastoma and touches upon the quality of life of patients and future outlooks.

Kaposi sarcoma is a rare cancer that typically presents with multiple pigmented skin lesions, but may take an aggressive course characterised by lesion ulceration, oedema and visceral organ involvement. This Primer describes the epidemiology, clinical features, cellular mechanisms and management of the main forms of Kaposi sarcoma.

Subfertility affects one in six couples worldwide and is associated with emotional distress and reduced quality of life. This Primer by Farquhar and colleagues discusses the causes, diagnosis and treatment of female subfertility.

An estimated 20% of all patients with cancer will develop brain metastases, with the majority of brain metastases occurring in those with lung and breast cancer and melanoma. This Primer describes the mechanisms by which cancer cells migrate to the brain and the key advances necessary to improve the prognosis for patients with brain metastases.

Coeliac disease is an immune-mediated enteropathy driven by dietary gluten present in wheat, rye and barley. This Primer discusses the risk factors and immune mechanisms of coeliac disease and highlights future treatment options beyond the gluten-free diet.

Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. This Primer highlights RMS epidemiology and disease mechanisms and presents the state of the art in clinical care, including diagnostics, risk-based disease management and prevention of late treatment effects.