Primers and PrimeViews

Alopecia areata is an autoimmune disorder characterized by reversible hair loss without loss of the hair follicle. This PrimeView focuses on the clinical presentation, which can vary from patchy hair loss on the scalp to total loss of all body hair.

Alopecia areata is an autoimmune disorder characterized by transient hair loss. Severity can range from distinct patches to total hair loss. In this Primer, the authors describe the underlying pathophysiology of this complex polygenic disease, as well as the epidemiology, diagnosis and management.

Renal cell carcinoma is a common cancer that is treated with surgery in localized cases and systemic targeted therapies in metastatic cases.

Renal cell carcinoma (RCC) is a neoplasm of the renal epithelium and accounts for >90% of kidney cancers. Cancer genomic studies have identified numerous molecular events that lead to RCC and marked intra-tumour heterogeneity, which have prognostic and therapeutic relevance. In this Primer, the authors describe these advances, as well as highlight the considerable advances in the systemic treatment of metastatic RCC.

Hepatitis C virus (HCV) infection can cause acute and chronic liver inflammation — hepatitis C — and can result in liver cirrhosis and hepatocellular carcinoma. This PrimeView focuses on the development of direct-acting antiviral agents, which have revolutionized the treatment of HCV infection.

Hepatitis C virus infection can cause acute and chronic hepatitis C, which are both characterized by inflammation of the liver. In this Primer, Manns et al. describe the latest developments against the global hepatitis C epidemic in the era of highly effective therapies.

Neurofibromatosis type 1 is caused by mutations in the NF1 tumour suppressor gene. The clinical manifestations of neurofibromatosis type 1 are highlighted in this PrimeView and can include defects in the skin, nervous system and bone.

Neurofibromatosis type 1 is caused by mutations in the NF1 tumour suppressor gene. This Primer by Gutmann and colleagues discusses the genetics underlying the development of this disease, and describes the diagnosis and treatment of the widespread clinical manifestations.

This PrimeView highlights how a diagnosis of neuropathic pain is reached, which is important to provide appropriate treatments.

Neuropathic pain is caused by a lesion or disease of the somatosensory system (including peripheral and central neurons). Here, the authors present the current descriptions of the presentation, causes, diagnosis and treatment of neuropathic pain with a focus on peripheral neuropathic pain, which has a greater knowledge base than central neuropathic pain.

This illustrated PrimeView accompanies the Primer on narcolepsy by Kornum and colleagues, and focuses on the diagnosis and clinical manifestations of narcolepsy type 1 (also referred to as narcolepsy with cataplexy).

Narcolepsy is a sleep disorder that is characterized by excessive daytime sleepiness. This Primer by Kornum and colleagues primarily focuses on narcolepsy type 1 (also known as narcolepsy with cataplexy), which is believed to be caused by the autoimmune-mediated loss of hypocretin neurons in the lateral hypothalamus.

Gilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder characterized by motor tics and at least one vocal tic. Tics have an onset in childhood and improve with increasing age. This PrimeView focuses on the clinical characteristics and the impact that GTS has on quality of life.

Gilles de la Tourette syndrome (GTS) is a childhood-onset neurodevelopmental disorder that is characterized by several motor tics and at least one phonic tic. In this Primer, Robertson et al. describe the epidemiology, pathophysiology, diagnosis and management of GTS in detail.

Chronic lymphocytic leukaemia (CLL) is a B cell malignancy. This PrimeView focuses on the mechanisms underlying the development of CLL, including genetic alterations, B cell receptor signalling and interactions within the tumour microenvironment.

Research on the biology of chronic lymphocytic leukaemia (CLL) — a malignancy of CD5⁺ B cells — has profoundly enhanced the identification of patients who are at high risk of disease progression and the treatment of patients with drugs that target the distinctive features of CLL. This Primer highlights these advances, as well as the epidemiology, genetics and immunobiology of CLL.

Congenital hearing loss affects up to 3 per 1,000 children; it can severely impair speech and reading skills and emotional and cognitive development. This PrimeView highlights the importance of neonatal hearing screening programmes and early diagnosis in the management of this condition.

Viral infections during pregnancy and acquired genetic mutations account for the majority of cases of congenital hearing loss. Early detection of this chronic condition, through neonatal hearing screening programmes, greatly benefits the cognitive and social development of the child.

Sheehan syndrome or postpartum hypopituitarism is a condition characterized by hypopituitarism due to necrosis of the pituitary gland. The initial insult is caused by massive postpartum haemorrhage, leading to impaired blood supply to the pituitary gland, which has become enlarged during pregnancy.

Sheehan syndrome refers to postpartum hypopituitarism caused by necrosis of the pituitary gland as a consequence of severe hypotension owing to uterine bleeding during or soon after childbirth. In this Primer, Kelestimur and colleagues describe the epidemiology, mechanisms, diagnosis and treatment options of Sheehan syndrome.