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This illustrated PrimeView highlights the mechanisms of lysosomal storage disorders, a group of genetic diseases that are characterized by the accumulation of macromolecules inside lysosomes.
Lysosomal storage diseases (LSDs) are a diverse group of disorders that can manifest at any stage of life. This Primer by Platt and colleagues provides an overview of the LSDs, including how lysosomal dysfunction gives rise to disease and how these disorders are diagnosed and treated. An overview of future therapeutic targets for LSDs is also provided.
Dystonia can be classified as isolated or combined depending on the absence or presence of additional symptoms, respectively. This Primer discusses the epidemiology, mechanisms, diagnosis and management of isolated dystonia and touches upon combined dystonia where required.
This illustrated PrimeView focuses on the pathophysiology of acute kidney injury-hepatorenal syndrome and also discusses the diagnosis and management of this serious disorder.
Hepatorenal syndrome (HRS) is defined as severe kidney functional impairment that occurs in patients with liver cirrhosis. This Primer discusses new diagnostic criteria of acute kidney injury in the context of HRS and also covers pathophysiology and management of this serious disorder.
Wilson disease is an inherited disorder of copper metabolism that is characterized by the pathological accumulation of copper. This Primer describes the pathogenesis of this disorder and outlines diagnostic and management strategies.
REM sleep behaviour disorder (RBD) is characterized by a loss of muscle atonia during REM sleep, leading to excess muscle tone and abnormal behaviours. This PrimeView focuses on the diagnosis of RBD, which typically relies on clinical interview and video polysomnography.
Rapid eye movement (REM) sleep behaviour disorder (RBD) is characterized by a loss of muscle atonia and abnormal behaviours during REM sleep. This Primer discusses the epidemiology, pathophysiology, diagnosis and management of RBD as well as the relationship and implications of the relationship between idiopathic RBD and neurodegenerative disease.
This PrimeView illustrates the pathogenetic pathways involved in the development of alcoholic liver disease, and focuses on diagnosis, screening and management
Alcoholic liver disease refers to a spectrum of disorders that are caused by chronic alcohol consumption. This Primer covers the epidemiology, mechanisms, diagnosis and management of alcoholic liver disease.
Schistosomiasis is a neglected parasitic infection that is endemic in tropical countries, especially in Africa. The complex interactions between Schistosoma spp. flatworms and the human host determine the disease course.
Schistosomiasis is a parasitic infection caused by Schistosoma spp. flatworms. Transmission of the infection occurs via contact with contaminated water, and the disease is most prevalent in areas with limited access to safe drinking water and sanitation.
This PrimeView focuses on the pathophysiology, diagnosis and management of cryoglobulineamia. This disorder is characterized by the presence of immunoglobulins in the blood that precipate out of solution at body temperature.
Cryoglobulinaemia is characterized by the presence of precipitable immunoglobulins in the serum and can lead to a clinical syndrome called cryoglobulinaemic vasculitis. This Primer describes the underlying mechanisms, diagnosis and management of cryoglobulinaemia.
Endometriosis is a common condition in women in which tissue resembling the endometrium (the lining of the uterus) is found at sites outside the uterus, and is associated with pain and infertility.
Endometriosis is a common inflammatory disease associated with pelvic pain and infertility and is characterized by the presence of tissue outside the uterus that resembles endometrium. This Primer describes the pathogenesis of the condition and the current outlook for future research.
Vibrio spp. infections include cholera (caused by Vibrio cholerae) and vibriosis (caused by non-cholera Vibrio spp.); whereas cholera is a well-known disease, vibriosis is emerging as a foodborne and wound infection, and the incidence of both diseases is expected to further increase.
Ewing sarcoma is a malignant bone or soft-tissue tumour that mainly arises in children, adolescents and young adults. This PrimeView highlights the mechanisms underlying this rare cancer.
