Michael L Eisenberg, Sandro C Esteves, Dolores J Lamb, James M Hotaling, Aleksander Giwercman, Kathleen Hwang, Yu-Sheng Cheng
{"title":"Male infertility.","authors":"Michael L Eisenberg, Sandro C Esteves, Dolores J Lamb, James M Hotaling, Aleksander Giwercman, Kathleen Hwang, Yu-Sheng Cheng","doi":"10.1038/s41572-023-00459-w","DOIUrl":"10.1038/s41572-023-00459-w","url":null,"abstract":"<p><p>Clinical infertility is the inability of a couple to conceive after 12 months of trying. Male factors are estimated to contribute to 30-50% of cases of infertility. Infertility or reduced fertility can result from testicular dysfunction, endocrinopathies, lifestyle factors (such as tobacco and obesity), congenital anatomical factors, gonadotoxic exposures and ageing, among others. The evaluation of male infertility includes detailed history taking, focused physical examination and selective laboratory testing, including semen analysis. Treatments include lifestyle optimization, empirical or targeted medical therapy as well as surgical therapies that lead to measurable improvement in fertility. Although male infertility is recognized as a disease with effects on quality of life for both members of the infertile couple, fewer data exist on specific quantification and impact compared with other health-related conditions.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"9 1","pages":"49"},"PeriodicalIF":81.5,"publicationDate":"2023-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10337397","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
William B Hannah, Terry G J Derks, Mitchell L Drumm, Sarah C Grünert, Priya S Kishnani, John Vissing
{"title":"Glycogen storage diseases.","authors":"William B Hannah, Terry G J Derks, Mitchell L Drumm, Sarah C Grünert, Priya S Kishnani, John Vissing","doi":"10.1038/s41572-023-00456-z","DOIUrl":"10.1038/s41572-023-00456-z","url":null,"abstract":"<p><p>Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ clinical features of hepatic GSDs and muscle GSDs, in addition to their epidemiology, biochemistry and mechanisms of disease, diagnosis, management, quality of life and future research directions. Some GSDs have available guidelines for diagnosis and management. Diagnostic considerations include phenotypic characterization, biomarkers, imaging, genetic testing, enzyme activity analysis and histology. Management includes surveillance for development of characteristic disease sequelae, avoidance of fasting in several hepatic GSDs, medically prescribed diets, appropriate exercise regimens and emergency letters. Specific therapeutic interventions are available for some diseases, such as enzyme replacement therapy to correct enzyme deficiency in Pompe disease and SGLT2 inhibitors for neutropenia and neutrophil dysfunction in GSD Ib. Progress in diagnosis, management and definitive therapies affects the natural course and hence morbidity and mortality. The natural history of GSDs is still being described. The quality of life of patients with these conditions varies, and standard sets of patient-centred outcomes have not yet been developed. The landscape of novel therapeutics and GSD clinical trials is vast, and emerging research is discussed herein.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"9 1","pages":"46"},"PeriodicalIF":81.5,"publicationDate":"2023-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10200350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Wolfgang Marx, Brenda W J H Penninx, Marco Solmi, Toshi A Furukawa, Joseph Firth, Andre F Carvalho, Michael Berk
{"title":"Major depressive disorder.","authors":"Wolfgang Marx, Brenda W J H Penninx, Marco Solmi, Toshi A Furukawa, Joseph Firth, Andre F Carvalho, Michael Berk","doi":"10.1038/s41572-023-00454-1","DOIUrl":"10.1038/s41572-023-00454-1","url":null,"abstract":"<p><p>Major depressive disorder (MDD) is characterized by persistent depressed mood, loss of interest or pleasure in previously enjoyable activities, recurrent thoughts of death, and physical and cognitive symptoms. People with MDD can have reduced quality of life owing to the disorder itself as well as related medical comorbidities, social factors, and impaired functional outcomes. MDD is a complex disorder that cannot be fully explained by any one single established biological or environmental pathway. Instead, MDD seems to be caused by a combination of genetic, environmental, psychological and biological factors. Treatment for MDD commonly involves pharmacological therapy with antidepressant medications, psychotherapy or a combination of both. In people with severe and/or treatment-resistant MDD, other biological therapies, such as electroconvulsive therapy, may also be offered.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"9 1","pages":"44"},"PeriodicalIF":81.5,"publicationDate":"2023-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10071145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Linda-Gail Bekker, Chris Beyrer, Nyaradzo Mgodi, Sharon R Lewin, Sinead Delany-Moretlwe, Babafemi Taiwo, Mary Clare Masters, Jeffrey V Lazarus
{"title":"HIV infection.","authors":"Linda-Gail Bekker, Chris Beyrer, Nyaradzo Mgodi, Sharon R Lewin, Sinead Delany-Moretlwe, Babafemi Taiwo, Mary Clare Masters, Jeffrey V Lazarus","doi":"10.1038/s41572-023-00452-3","DOIUrl":"10.1038/s41572-023-00452-3","url":null,"abstract":"<p><p>The AIDS epidemic has been a global public health issue for more than 40 years and has resulted in ~40 million deaths. AIDS is caused by the retrovirus, HIV-1, which is transmitted via body fluids and secretions. After infection, the virus invades host cells by attaching to CD4 receptors and thereafter one of two major chemokine coreceptors, CCR5 or CXCR4, destroying the host cell, most often a T lymphocyte, as it replicates. If unchecked this can lead to an immune-deficient state and demise over a period of ~2-10 years. The discovery and global roll-out of rapid diagnostics and effective antiretroviral therapy led to a large reduction in mortality and morbidity and to an expanding group of individuals requiring lifelong viral suppressive therapy. Viral suppression eliminates sexual transmission of the virus and greatly improves health outcomes. HIV infection, although still stigmatized, is now a chronic and manageable condition. Ultimate epidemic control will require prevention and treatment to be made available, affordable and accessible for all. Furthermore, the focus should be heavily oriented towards long-term well-being, care for multimorbidity and good quality of life. Intense research efforts continue for therapeutic and/or preventive vaccines, novel immunotherapies and a cure.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"9 1","pages":"42"},"PeriodicalIF":81.5,"publicationDate":"2023-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10560210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Murray Grossman, William W Seeley, Adam L Boxer, Argye E Hillis, David S Knopman, Peter A Ljubenov, Bruce Miller, Olivier Piguet, Rosa Rademakers, Jennifer L Whitwell, Henrik Zetterberg, John C van Swieten
{"title":"Frontotemporal lobar degeneration.","authors":"Murray Grossman, William W Seeley, Adam L Boxer, Argye E Hillis, David S Knopman, Peter A Ljubenov, Bruce Miller, Olivier Piguet, Rosa Rademakers, Jennifer L Whitwell, Henrik Zetterberg, John C van Swieten","doi":"10.1038/s41572-023-00447-0","DOIUrl":"10.1038/s41572-023-00447-0","url":null,"abstract":"<p><p>Frontotemporal lobar degeneration (FTLD) is one of the most common causes of early-onset dementia and presents with early social-emotional-behavioural and/or language changes that can be accompanied by a pyramidal or extrapyramidal motor disorder. About 20-25% of individuals with FTLD are estimated to carry a mutation associated with a specific FTLD pathology. The discovery of these mutations has led to important advances in potentially disease-modifying treatments that aim to slow progression or delay disease onset and has improved understanding of brain functioning. In both mutation carriers and those with sporadic disease, the most common underlying diagnoses are linked to neuronal and glial inclusions containing tau (FTLD-tau) or TDP-43 (FTLD-TDP), although 5-10% of patients may have inclusions containing proteins from the FUS-Ewing sarcoma-TAF15 family (FTLD-FET). Biomarkers definitively identifying specific pathological entities in sporadic disease have been elusive, which has impeded development of disease-modifying treatments. Nevertheless, disease-monitoring biofluid and imaging biomarkers are becoming increasingly sophisticated and are likely to serve as useful measures of treatment response during trials of disease-modifying treatments. Symptomatic trials using novel approaches such as transcranial direct current stimulation are also beginning to show promise.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"9 1","pages":"40"},"PeriodicalIF":81.5,"publicationDate":"2023-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10005736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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