Primers in 2024

Guillain–Barré syndrome is an acute immune-mediated polyneuropathy that can occur following infections or other rare triggers. In this Primer, Leonhard and colleagues summarize the epidemiology, mechanisms and diagnosis of this disease and discuss its management, patient quality of life and open research questions.

Ectopic pregnancy is defined as the implantation of a developing pregnancy outside of the endometrial cavity of the uterus and is the leading cause of early-pregnancy maternal mortality. This Primer summarizes the epidemiology, pathophysiology, diagnosis and management of ectopic pregnancy.

Body dysmorphic disorder is a psychiatric condition characterized by constant fixation with perceived flaws in physical appearance. In this Primer, Rück and colleagues discuss the epidemiology and current knowledge of pathogenesis, diagnosis and management of this often-overlooked disorder.

Leprosy is a chronic infectious disease that causes considerable morbidity in marginalized communities. In this Primer, Grijsen et al. summarize the epidemiology and mechanisms of leprosy, discuss its diagnosis, management and patient quality of life, and highlight areas for future research.

Anorectal malformations (ARM) span a spectrum of rare congenital anomalies of the anus and rectum, ranging from a minimally displaced anal canal to a complete fusion of the anorectum, vagina and urethra with hypoplastic sphincter and pelvic floor muscle. This Primer summarizes the epidemiology, pathophysiology, diagnosis and management of ARM.

Systemic capillary leak syndrome occurs when there is systemically dysregulated fluid homeostasis. This can lead to hypotensive shock, widespread tissue oedema and multi-organ dysfunction syndrome. In this Primer, Druey and colleagues summarize the epidemiology, pathophysiology, diagnosis and management of this condition.

Rett syndrome is a rare genetic disorder affecting predominantly females resulting in severe physical and mental disability. In this Primer, Gold and colleagues review the epidemiology, mechanisms, diagnosis and treatment as well as highlight the quality of life of individuals with Rett syndrome.

Autoimmune haemolytic anaemias are a group of anaemias mediated by the presence of autoantibodies targeting antigens expressed on red blood cells, leading to their destruction. In this Primer, Michel and colleagues summarize the epidemiology, pathophysiology, diagnosis and management of this condition.

Keratoconus is a disorder of the eye characterized by progressive thinning and protrusion of the cornea, resulting in vision impairment. In this Primer, Singh et al. review the epidemiology, mechanisms and diagnosis of keratoconus, discuss current management approaches and quality of life, and highlight questions for future research.

The metabolic syndrome (MetS) is a diagnosis that groups several risk factors (including abdominal obesity, dysglycaemia, dyslipidaemia and elevated blood pressure) that increase the risk for cardiovascular disease and other health outcomes. This Primer outlines the evolving definition of MetS and describes the pathophysiology, epidemiology, diagnostic criteria and management strategies.

Primary vesicoureteral reflux is the most common urological abnormality in infants and children and its association with urinary tract infection and renal parenchymal damage is well established. In this Primer, Puri and colleagues review the current classifications, epidemiology, mechanisms, diagnosis and management of this disorder and highlight open research questions.

Scabies is one of the most common and highest-burden skin diseases globally. Infection by the scabies mite is highly contagious and leads to considerable morbidity. In this Primer, Fernando and colleagues summarize the epidemiology, pathophysiology, diagnosis and management of scabies.

Non-small-cell lung cancer accounts for ~85% of lung cancers. In this Primer, Hendriks et al. summarize current knowledge and research on this malignancy, discussing its epidemiology, mechanisms, diagnosis and management, as well as quality of life and future research directions.

In this Primer, Sayer et al. summarize current knowledge on the epidemiology of sarcopenia, and describe the mechanisms underlying this skeletal muscle disorder, as well as its diagnosis, prevention, management and impacts on quality of life.

Premature ovarian insufficiency (POI) is defined as the loss of normal ovarian activity before the age of 40 years, and is a cause of infertility and endocrine dysfunction in women. This Primer outlines the epidemiology and pathophysiology of POI, including associated gene variants, and discusses diagnosis, management and quality of life for women with POI.

Developmental and epileptic encephalopathies are a severe group of epilepsies that usually begin in infancy or childhood. In this Primer, Scheffer and colleagues review the epidemiology, pathophysiology, diagnosis, management and quality of life of patients with this condition, and highlight areas for future research.

Tumour lysis syndrome (TLS) is an oncological emergency characterized by extensive tumour cell breakdown, leading to the rapid release of intracellular contents into the systemic circulation. In this Primer, Howard and colleagues summarize the epidemiology, pathophysiology, diagnosis and management of TLS.

Heart failure with preserved ejection fraction (HFpEF) accounts for nearly half of all heart failure cases, with a prevalence that is expected to rise with the growing ageing population. In this Primer, Hamo and colleagues summarize the epidemiology and pathophysiology of HFpEF and discuss HFpEF diagnosis, treatment and open research questions.

Cystic fibrosis is an inherited disorder involving dysfunction of the CFTR ion channel, affecting predominantly the lungs but also other organs. In this Primer, Mall and colleagues provide an update on the epidemiology, pathophysiology, diagnosis and treatment of the disease.

von Willebrand disease (VWD) is the most common inherited bleeding disorder. VWD is characterized by defects in von Willebrand factor, the largest plasma glycoprotein in humans. In this Primer, Seidizadeh and colleagues discuss the epidemiology, mechanisms, diagnosis and treatments for VWD.