{"title":"Neurological complications at high altitude beyond altitude illnesses.","authors":"Marika Falla, Giacomo Strapazzon, Peter H Hackett","doi":"10.1038/s41572-024-00583-1","DOIUrl":"https://doi.org/10.1038/s41572-024-00583-1","url":null,"abstract":"","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"96"},"PeriodicalIF":76.9,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142864611","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}
Sonja E Leonhard, Nowshin Papri, Luis Querol, Simon Rinaldi, Nortina Shahrizaila, Bart C Jacobs
{"title":"Guillain-Barré syndrome.","authors":"Sonja E Leonhard, Nowshin Papri, Luis Querol, Simon Rinaldi, Nortina Shahrizaila, Bart C Jacobs","doi":"10.1038/s41572-024-00580-4","DOIUrl":"https://doi.org/10.1038/s41572-024-00580-4","url":null,"abstract":"<p><p>Guillain-Barré syndrome (GBS) is a rare immune-mediated polyradiculoneuropathy. Patients typically develop rapidly progressive weakness and sensory deficits that can result in complete paralysis requiring mechanical ventilation. GBS is usually a monophasic disease in which an aberrant immune response to an infection or other trigger damages the peripheral nerves. For example, in patients with preceding Campylobacter jejuni infection, molecular mimicry causes a cross-reactive antibody response to nerve gangliosides. Diagnosis is based on clinical features, supported by cerebrospinal fluid analysis and nerve conduction studies. Effective treatments include plasma exchange and intravenous immunoglobulins. However, ~20% of patients who received treatment are unable to walk after 6 months and ~5% die as a consequence of GBS. Important knowledge gaps in GBS include its pathogenesis, especially after viral infections. In addition, there is a lack of specific biomarkers to improve the diagnosis, monitor the disease activity, and predict the clinical course and outcome of GBS. Major challenges for the future include finding more effective and personalized treatments, which are affordable in low-income and middle-income countries, and preparation for outbreaks of infections as potential triggers for GBS.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"97"},"PeriodicalIF":76.9,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142864609","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}
Krystle Y Chong, Liesl de Waard, Munira Oza, Madelon van Wely, Davor Jurkovic, Maria Memtsa, Andrea Woolner, Ben W Mol
{"title":"Ectopic pregnancy.","authors":"Krystle Y Chong, Liesl de Waard, Munira Oza, Madelon van Wely, Davor Jurkovic, Maria Memtsa, Andrea Woolner, Ben W Mol","doi":"10.1038/s41572-024-00579-x","DOIUrl":"https://doi.org/10.1038/s41572-024-00579-x","url":null,"abstract":"<p><p>Ectopic pregnancy, defined as the implantation of a developing pregnancy outside of the endometrial cavity of the uterus, is the leading cause of early-pregnancy maternal mortality. The majority of ectopic pregnancies implant in a fallopian tube. Acute complications may include rupture of the fallopian tube or rupture of ectopic pregnancy, haemorrhage and hypovolaemic shock, or occur secondary to treatments such as emergency surgery or blood transfusions, and ultimately increase the risk of maternal death. After ectopic pregnancy, patients may experience ongoing morbidity, including chronic pain, infertility and psychological distress. Assessment of ectopic pregnancy should focus on prompt diagnosis based on clinical and investigative findings but should also reflect a patient-centred approach with acknowledgement of potential psychological distress associated with pregnancy loss and reduced future fertility. Over the last four decades, the foundations of non-invasive diagnosis have been transvaginal sonography and serum β-human chorionic gonadotropin, with diagnostic laparoscopy as a confirmatory test if surgical treatment is planned. Once diagnosed, ectopic pregnancy can be managed expectantly, treated medically with methotrexate or managed surgically. Future fertility is an important but often overlooked aspect in the management of ectopic pregnancy.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"94"},"PeriodicalIF":76.9,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142818705","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}
Christian Rück, David Mataix-Cols, Jamie D Feusner, Roseli Gedanke Shavitt, David Veale, Georgina Krebs, Lorena Fernández de la Cruz
{"title":"Body dysmorphic disorder.","authors":"Christian Rück, David Mataix-Cols, Jamie D Feusner, Roseli Gedanke Shavitt, David Veale, Georgina Krebs, Lorena Fernández de la Cruz","doi":"10.1038/s41572-024-00577-z","DOIUrl":"10.1038/s41572-024-00577-z","url":null,"abstract":"<p><p>Body dysmorphic disorder (BDD) is an obsessive-compulsive disorder-related psychiatric condition characterized by an intense preoccupation with perceived physical flaws that are not observable by others. BDD affects ~2% of the adult population but is underdiagnosed, partly owing to limited clinician awareness, and undertreated, partly due to limited access to treatment. Research on the aetiology of BDD is scarce but likely involves an interplay between genetic and environmental factors. A few studies suggest functional and structural brain differences (compared with controls) in the regions involved in visual and emotional processing, although firm conclusions about the pathophysiology of the disorder cannot be made at this stage. Diagnosis requires the presence of repetitive behaviours or mental acts typically aimed at checking, correcting or concealing perceived flaws. The disorder typically has its onset before 18 years of age, with a female preponderance in youth but no major gender disparity in adults. Quality of life is markedly impaired across multiple domains and suicide risk is considerable. Evidence-based treatments include cognitive behavioural therapy and selective serotonin reuptake inhibitors. Future research should focus on understanding the biological and environmental factors that increase the risk of BDD, and on improving access to effective treatments, thereby addressing a critical gap in care for this often misunderstood and overlooked disorder.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"92"},"PeriodicalIF":76.9,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142785592","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}
Marlous L Grijsen, Thuan H Nguyen, Roberta Olmo Pinheiro, Pushpendra Singh, Saba M Lambert, Stephen L Walker, Annemieke Geluk
{"title":"Leprosy.","authors":"Marlous L Grijsen, Thuan H Nguyen, Roberta Olmo Pinheiro, Pushpendra Singh, Saba M Lambert, Stephen L Walker, Annemieke Geluk","doi":"10.1038/s41572-024-00575-1","DOIUrl":"10.1038/s41572-024-00575-1","url":null,"abstract":"<p><p>Leprosy, a neglected tropical disease, causes significant morbidity in marginalized communities. Before the COVID-19 pandemic, annual new case detection plateaued for over a decade at ~200,000 new cases. The clinical phenotypes of leprosy strongly parallel host immunity to its causative agents Mycobacterium leprae and Mycobacterium lepromatosis. The resulting spectrum spans from paucibacillary leprosy, characterized by vigorous pro-inflammatory immunity with few bacteria, to multibacillary leprosy, harbouring large numbers of bacteria with high levels of seemingly non-protective, anti-M. leprae antibodies. Leprosy diagnosis remains clinical, leaving asymptomatic individuals with infection undetected. Antimicrobial treatment is effective with recommended multidrug therapy for 6 months for paucibacillary leprosy and 12 months for multibacillary leprosy. The incubation period ranges from 2 to 6 years, although longer periods have been described. Given this lengthy incubation period and dwindling clinical expertise, there is an urgent need to create innovative, low-complexity diagnostic tools for detection of M. leprae infection. Such advancements are vital for enabling swift therapeutic and preventive interventions, ultimately transforming patient outcomes. National health-care programmes should prioritize early case detection and consider post-exposure prophylaxis for individuals in close contact with affected persons. These measures will help interrupt transmission, prevent disease progression, and mitigate the risk of nerve damage and disabilities to achieve the WHO goal 'Towards Zero Leprosy' and reduce the burden of leprosy.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"90"},"PeriodicalIF":76.9,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142751204","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}
Ivo de Blaauw, Pernilla Stenström, Atsuyuki Yamataka, Yuichiro Miyake, Heiko Reutter, Paola Midrio, Richard Wood, Caterina Grano, Mikko Pakarinen
{"title":"Anorectal malformations.","authors":"Ivo de Blaauw, Pernilla Stenström, Atsuyuki Yamataka, Yuichiro Miyake, Heiko Reutter, Paola Midrio, Richard Wood, Caterina Grano, Mikko Pakarinen","doi":"10.1038/s41572-024-00574-2","DOIUrl":"10.1038/s41572-024-00574-2","url":null,"abstract":"<p><p>Anorectal malformations (ARM) are rare congenital anomalies with an overall prevalence of 3.32 per 10,000 pregnancies. ARM describe a spectrum of 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. Aberrant septation of the hindgut with anomalous cloacal membrane during weeks 6 to 9 of gestation form the developmental basis for a spectrum of anomalies defined as ARM. Although underlying specific syndromes and occasional familiar occurrence suggest genetic aetiology, most ARM are non-syndromic and their causal genetic mechanisms and non-genetic insults remain unclear. ARM is a clinical diagnosis, generally made early after birth via careful inspection of the perineum. Prenatal detection remains rare, and modern technical developments have added little to prenatal diagnostics. ARM is corrected surgically. Since its introduction in 1982, posterior sagittal anorectoplasty is the most common surgery for ARM reconstruction. Subsequent surgical adaptations focus on minimizing iatrogenic operative injury by limiting surgical invasiveness. They include laparoscopic procedures and shortening of incisions with confined dissection in open surgery. Although outcomes in patients with ARM have evolved throughout the past decades, there is urgent need for further improvements both in functional outcomes and quality of life. The importance of psychosocial experiences of affected patients is increasingly recognized. Continued research is necessary to improve prenatal detection, to elucidate genetic and epigenetic alterations and to refine optimal surgical procedures.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"88"},"PeriodicalIF":76.9,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142687518","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}
京公网安备 11010802042870号
求助内容：
应助结果提醒方式：