{"title":"Rare diseases: challenges and opportunities for research and public health.","authors":"Domenica Taruscio, William A Gahl","doi":"10.1038/s41572-024-00505-1","DOIUrl":"10.1038/s41572-024-00505-1","url":null,"abstract":"","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"13"},"PeriodicalIF":81.5,"publicationDate":"2024-02-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139996882","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}
Inga Zerr, Anna Ladogana, Simon Mead, Peter Hermann, Gianluigi Forloni, Brian S Appleby
{"title":"Creutzfeldt-Jakob disease and other prion diseases.","authors":"Inga Zerr, Anna Ladogana, Simon Mead, Peter Hermann, Gianluigi Forloni, Brian S Appleby","doi":"10.1038/s41572-024-00497-y","DOIUrl":"10.1038/s41572-024-00497-y","url":null,"abstract":"<p><p>Prion diseases share common clinical and pathological characteristics such as spongiform neuronal degeneration and deposition of an abnormal form of a host-derived protein, termed prion protein. The characteristic features of prion diseases are long incubation times, short clinical courses, extreme resistance of the transmissible agent to degradation and lack of nucleic acid involvement. Sporadic and genetic forms of prion diseases occur worldwide, of which genetic forms are associated with mutations in PRNP. Human to human transmission of these diseases has occurred due to iatrogenic exposure, and zoonotic forms of prion diseases are linked to bovine disease. Significant progress has been made in the diagnosis of these disorders. Clinical tools for diagnosis comprise brain imaging and cerebrospinal fluid tests. Aggregation assays for detection of the abnormally folded prion protein have a clear potential to diagnose the disease in peripherally accessible biofluids. After decades of therapeutic nihilism, new treatment strategies and clinical trials are on the horizon. Although prion diseases are relatively rare disorders, understanding their pathogenesis and mechanisms of prion protein misfolding has significantly enhanced the field in research of neurodegenerative diseases.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"14"},"PeriodicalIF":81.5,"publicationDate":"2024-02-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139996880","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}
Stephen V Faraone, Mark A Bellgrove, Isabell Brikell, Samuele Cortese, Catharina A Hartman, Chris Hollis, Jeffrey H Newcorn, Alexandra Philipsen, Guilherme V Polanczyk, Katya Rubia, Margaret H Sibley, Jan K Buitelaar
{"title":"Attention-deficit/hyperactivity disorder.","authors":"Stephen V Faraone, Mark A Bellgrove, Isabell Brikell, Samuele Cortese, Catharina A Hartman, Chris Hollis, Jeffrey H Newcorn, Alexandra Philipsen, Guilherme V Polanczyk, Katya Rubia, Margaret H Sibley, Jan K Buitelaar","doi":"10.1038/s41572-024-00495-0","DOIUrl":"10.1038/s41572-024-00495-0","url":null,"abstract":"<p><p>Attention-deficit/hyperactivity disorder (ADHD; also known as hyperkinetic disorder) is a common neurodevelopmental condition that affects children and adults worldwide. ADHD has a predominantly genetic aetiology that involves common and rare genetic variants. Some environmental correlates of the disorder have been discovered but causation has been difficult to establish. The heterogeneity of the condition is evident in the diverse presentation of symptoms and levels of impairment, the numerous co-occurring mental and physical conditions, the various domains of neurocognitive impairment, and extensive minor structural and functional brain differences. The diagnosis of ADHD is reliable and valid when evaluated with standard diagnostic criteria. Curative treatments for ADHD do not exist but evidence-based treatments substantially reduce symptoms and/or functional impairment. Medications are effective for core symptoms and are usually well tolerated. Some non-pharmacological treatments are valuable, especially for improving adaptive functioning. Clinical and neurobiological research is ongoing and could lead to the creation of personalized diagnostic and therapeutic approaches for this disorder.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"11"},"PeriodicalIF":81.5,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139932043","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}
Josep M Llovet, Robin Kate Kelley, Augusto Villanueva, Amit G Singal, Eli Pikarsky, Sasan Roayaie, Riccardo Lencioni, Kazuhiko Koike, Jessica Zucman-Rossi, Richard S Finn
{"title":"Author Correction: Hepatocellular carcinoma.","authors":"Josep M Llovet, Robin Kate Kelley, Augusto Villanueva, Amit G Singal, Eli Pikarsky, Sasan Roayaie, Riccardo Lencioni, Kazuhiko Koike, Jessica Zucman-Rossi, Richard S Finn","doi":"10.1038/s41572-024-00500-6","DOIUrl":"https://doi.org/10.1038/s41572-024-00500-6","url":null,"abstract":"","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"10"},"PeriodicalIF":81.5,"publicationDate":"2024-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139723354","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}
Asheesh Bedi, Julie Bishop, Jay Keener, Drew A Lansdown, Ofer Levy, Peter MacDonald, Nicola Maffulli, Joo Han Oh, Vani J Sabesan, Joaquin Sanchez-Sotelo, Riley J Williams, Brian T Feeley
{"title":"Rotator cuff tears.","authors":"Asheesh Bedi, Julie Bishop, Jay Keener, Drew A Lansdown, Ofer Levy, Peter MacDonald, Nicola Maffulli, Joo Han Oh, Vani J Sabesan, Joaquin Sanchez-Sotelo, Riley J Williams, Brian T Feeley","doi":"10.1038/s41572-024-00492-3","DOIUrl":"10.1038/s41572-024-00492-3","url":null,"abstract":"<p><p>Rotator cuff tears are the most common upper extremity condition seen by primary care and orthopaedic surgeons, with a spectrum ranging from tendinopathy to full-thickness tears with arthritic change. Some tears are traumatic, but most rotator cuff problems are degenerative. Not all tears are symptomatic and not all progress, and many patients in whom tears become more extensive do not experience symptom worsening. Hence, a standard algorithm for managing patients is challenging. The pathophysiology of rotator cuff tears is complex and encompasses an interplay between the tendon, bone and muscle. Rotator cuff tears begin as degenerative changes within the tendon, with matrix disorganization and inflammatory changes. Subsequently, tears progress to partial-thickness and then full-thickness tears. Muscle quality, as evidenced by the overall size of the muscle and intramuscular fatty infiltration, also influences symptoms, tear progression and the outcomes of surgery. Treatment depends primarily on symptoms, with non-operative management sufficient for most patients with rotator cuff problems. Modern arthroscopic repair techniques have improved recovery, but outcomes are still limited by a lack of understanding of how to improve tendon to bone healing in many patients.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"8"},"PeriodicalIF":81.5,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139707284","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}
{"title":"Strongyloidiasis","authors":"","doi":"10.1038/s41572-024-00496-z","DOIUrl":"https://doi.org/10.1038/s41572-024-00496-z","url":null,"abstract":"This PrimeView highlights the epidemiology of strongyloidiasis, as well as discussing mechanisms, diagnosis, management and outlook.","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"44 1","pages":""},"PeriodicalIF":81.5,"publicationDate":"2024-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139552751","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}
Catherine A. Gordon, Jürg Utzinger, Stephen Muhi, Sören L. Becker, Jennifer Keiser, Virak Khieu, Darren J. Gray
{"title":"Strongyloidiasis","authors":"Catherine A. Gordon, Jürg Utzinger, Stephen Muhi, Sören L. Becker, Jennifer Keiser, Virak Khieu, Darren J. Gray","doi":"10.1038/s41572-023-00490-x","DOIUrl":"https://doi.org/10.1038/s41572-023-00490-x","url":null,"abstract":"<p>Strongyloidiasis is a neglected tropical disease caused primarily by the roundworm <i>Strongyloides stercoralis</i>. Strongyloidiasis is most prevalent in Southeast Asia and the Western Pacific. Although cases have been documented worldwide, global prevalence is largely unknown due to limited surveillance. Infection of the definitive human host occurs via direct skin penetration of the infective filariform larvae. Parasitic females reside in the small intestine and reproduce via parthenogenesis, where eggs hatch inside the host before rhabditiform larvae are excreted in faeces to begin the single generation free-living life cycle. Rhabditiform larvae can also develop directly into infectious filariform larvae in the gut and cause autoinfection. Although many are asymptomatic, infected individuals may report a range of non-specific gastrointestinal, respiratory or skin symptoms. Autoinfection may cause hyperinfection and disseminated strongyloidiasis in immunocompromised individuals, which is often fatal. Diagnosis requires direct examination of larvae in clinical specimens, positive serology or nucleic acid detection. However, there is a lack of standardization of techniques for all diagnostic types. Ivermectin is the treatment of choice. Control and elimination of strongyloidiasis will require a multifaceted, integrated approach, including highly sensitive and standardized diagnostics, active surveillance, health information, education and communication strategies, improved water, sanitation and hygiene, access to efficacious treatment, vaccine development and better integration and acknowledgement in current helminth control programmes.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"19 1","pages":""},"PeriodicalIF":81.5,"publicationDate":"2024-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139552754","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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