{"title":"Biliary atresia","authors":"","doi":"10.1038/s41572-024-00537-7","DOIUrl":"https://doi.org/10.1038/s41572-024-00537-7","url":null,"abstract":"This PrimeView highlights the pathophysiological mechanisms of biliary atresia, and summarizes the epidemiology, diagnosis and management of this disorder. It accompanies the Primer article on this topic by Tam et al.","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"21 1","pages":""},"PeriodicalIF":81.5,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141588383","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}
Florent Malard, Paola Neri, Nizar J Bahlis, Evangelos Terpos, Nour Moukalled, Vania T M Hungria, Salomon Manier, Mohamad Mohty
{"title":"Multiple myeloma.","authors":"Florent Malard, Paola Neri, Nizar J Bahlis, Evangelos Terpos, Nour Moukalled, Vania T M Hungria, Salomon Manier, Mohamad Mohty","doi":"10.1038/s41572-024-00529-7","DOIUrl":"https://doi.org/10.1038/s41572-024-00529-7","url":null,"abstract":"<p><p>Multiple myeloma (MM) is a haematological lymphoid malignancy involving tumoural plasma cells and is usually characterized by the presence of a monoclonal immunoglobulin protein. MM is the second most common haematological malignancy, with an increasing global incidence. It remains incurable because most patients relapse or become refractory to treatments. MM is a genetically complex disease with high heterogeneity that develops as a multistep process, involving acquisition of genetic alterations in the tumour cells and changes in the bone marrow microenvironment. Symptomatic MM is diagnosed using the International Myeloma Working Group criteria as a bone marrow infiltration of ≥10% clonal plasma cells, and the presence of at least one myeloma-defining event, either standard CRAB features (hypercalcaemia, renal failure, anaemia and/or lytic bone lesions) or biomarkers of imminent organ damage. Younger and fit patients are considered eligible for transplant. They receive an induction, followed by consolidation with high-dose melphalan and autologous haematopoietic cell transplantation, and maintenance therapy. In older adults (ineligible for transplant), the combination of daratumumab, lenalidomide and dexamethasone is the preferred option. If relapse occurs and requires further therapy, the choice of therapy will be based on previous treatment and response and now includes immunotherapies, such as bi-specific monoclonal antibodies and chimeric antigen receptor T cell therapy.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"45"},"PeriodicalIF":76.9,"publicationDate":"2024-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141469525","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}
Hannes Gatterer, Francisco C Villafuerte, Silvia Ulrich, Sanjeeb S Bhandari, Linda E Keyes, Martin Burtscher
{"title":"Altitude illnesses.","authors":"Hannes Gatterer, Francisco C Villafuerte, Silvia Ulrich, Sanjeeb S Bhandari, Linda E Keyes, Martin Burtscher","doi":"10.1038/s41572-024-00526-w","DOIUrl":"10.1038/s41572-024-00526-w","url":null,"abstract":"<p><p>Millions of people visit high-altitude regions annually and more than 80 million live permanently above 2,500 m. Acute high-altitude exposure can trigger high-altitude illnesses (HAIs), including acute mountain sickness (AMS), high-altitude cerebral oedema (HACE) and high-altitude pulmonary oedema (HAPE). Chronic mountain sickness (CMS) can affect high-altitude resident populations worldwide. The prevalence of acute HAIs varies according to acclimatization status, rate of ascent and individual susceptibility. AMS, characterized by headache, nausea, dizziness and fatigue, is usually benign and self-limiting, and has been linked to hypoxia-induced cerebral blood volume increases, inflammation and related trigeminovascular system activation. Disruption of the blood-brain barrier leads to HACE, characterized by altered mental status and ataxia, and increased pulmonary capillary pressure, and related stress failure induces HAPE, characterized by dyspnoea, cough and exercise intolerance. Both conditions are progressive and life-threatening, requiring immediate medical intervention. Treatment includes supplemental oxygen and descent with appropriate pharmacological therapy. Preventive measures include slow ascent, pre-acclimatization and, in some instances, medications. CMS is characterized by excessive erythrocytosis and related clinical symptoms. In severe CMS, temporary or permanent relocation to low altitude is recommended. Future research should focus on more objective diagnostic tools to enable prompt treatment, improved identification of individual susceptibilities and effective acclimatization and prevention options.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"43"},"PeriodicalIF":76.9,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141432278","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}
Luca Pagliaro, Sai-Juan Chen, Daniel Herranz, Cristina Mecucci, Christine J Harrison, Charles G Mullighan, Ming Zhang, Zhu Chen, Nicolas Boissel, Stuart S Winter, Giovanni Roti
{"title":"Acute lymphoblastic leukaemia.","authors":"Luca Pagliaro, Sai-Juan Chen, Daniel Herranz, Cristina Mecucci, Christine J Harrison, Charles G Mullighan, Ming Zhang, Zhu Chen, Nicolas Boissel, Stuart S Winter, Giovanni Roti","doi":"10.1038/s41572-024-00525-x","DOIUrl":"10.1038/s41572-024-00525-x","url":null,"abstract":"<p><p>Acute lymphoblastic leukaemia (ALL) is a haematological malignancy characterized by the uncontrolled proliferation of immature lymphoid cells. Over past decades, significant progress has been made in understanding the biology of ALL, resulting in remarkable improvements in its diagnosis, treatment and monitoring. Since the advent of chemotherapy, ALL has been the platform to test for innovative approaches applicable to cancer in general. For example, the advent of omics medicine has led to a deeper understanding of the molecular and genetic features that underpin ALL. Innovations in genomic profiling techniques have identified specific genetic alterations and mutations that drive ALL, inspiring new therapies. Targeted agents, such as tyrosine kinase inhibitors and immunotherapies, have shown promising results in subgroups of patients while minimizing adverse effects. Furthermore, the development of chimeric antigen receptor T cell therapy represents a breakthrough in ALL treatment, resulting in remarkable responses and potential long-term remissions. Advances are not limited to treatment modalities alone. Measurable residual disease monitoring and ex vivo drug response profiling screening have provided earlier detection of disease relapse and identification of exceptional responders, enabling clinicians to adjust treatment strategies for individual patients. Decades of supportive and prophylactic care have improved the management of treatment-related complications, enhancing the quality of life for patients with ALL.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"41"},"PeriodicalIF":76.9,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141317838","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}
Sait Ashina, Carrie E Robertson, Anan Srikiatkhachorn, Giulia Di Stefano, Anne Donnet, Mojgan Hodaie, Mark Obermann, Marcela Romero-Reyes, Young Seok Park, Giorgio Cruccu, Lars Bendtsen
{"title":"Trigeminal neuralgia.","authors":"Sait Ashina, Carrie E Robertson, Anan Srikiatkhachorn, Giulia Di Stefano, Anne Donnet, Mojgan Hodaie, Mark Obermann, Marcela Romero-Reyes, Young Seok Park, Giorgio Cruccu, Lars Bendtsen","doi":"10.1038/s41572-024-00523-z","DOIUrl":"10.1038/s41572-024-00523-z","url":null,"abstract":"<p><p>Trigeminal neuralgia (TN) is a facial pain disorder characterized by intense and paroxysmal pain that profoundly affects quality of life and presents complex challenges in diagnosis and treatment. TN can be categorized as classical, secondary and idiopathic. Epidemiological studies show variable incidence rates and an increased prevalence in women and in the elderly, with familial cases suggesting genetic factors. The pathophysiology of TN is multifactorial and involves genetic predisposition, anatomical changes, and neurophysiological factors, leading to hyperexcitable neuronal states, central sensitization and widespread neural plasticity changes. Neurovascular compression of the trigeminal root, which undergoes major morphological changes, and focal demyelination of primary trigeminal afferents are key aetiological factors in TN. Structural and functional brain imaging studies in patients with TN demonstrated abnormalities in brain regions responsible for pain modulation and emotional processing of pain. Treatment of TN involves a multifaceted approach that considers patient-specific factors, including the type of TN, with initial pharmacotherapy followed by surgical options if necessary. First-line pharmacological treatments include carbamazepine and oxcarbazepine. Surgical interventions, including microvascular decompression and percutaneous neuroablative procedures, can be considered at an early stage if pharmacotherapy is not sufficient for pain control or has intolerable adverse effects or contraindications.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"39"},"PeriodicalIF":81.5,"publicationDate":"2024-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141179276","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}
Lars B Dahlin, Malin Zimmerman, Maurizio Calcagni, Caroline A Hundepool, Nens van Alfen, Kevin C Chung
{"title":"Carpal tunnel syndrome.","authors":"Lars B Dahlin, Malin Zimmerman, Maurizio Calcagni, Caroline A Hundepool, Nens van Alfen, Kevin C Chung","doi":"10.1038/s41572-024-00521-1","DOIUrl":"10.1038/s41572-024-00521-1","url":null,"abstract":"<p><p>Carpal tunnel syndrome (CTS) is the most common nerve entrapment disorder worldwide. The epidemiology and risk factors, including family burden, for developing CTS are multi-factorial. Despite much research, its intricate pathophysiological mechanism(s) are not fully understood. An underlying subclinical neuropathy may indicate an increased susceptibility to developing CTS. Although surgery is often performed for CTS, clear international guidelines to indicate when to perform non-surgical or surgical treatment, based on stage and severity of CTS, remain to be elucidated. Neurophysiological examination, using electrophysiology or ultrasonography, performed in certain circumstances, should correlate with the history and findings in clinical examination of the person with CTS. History and clinical examination are particularly relevant globally owing to lack of other equipment. Various instruments are used to assess CTS and treatment outcomes as well as the effect of the disorder on quality of life. The surgical treatment options of CTS - open or endoscopic - offer an effective solution to mitigate functional impairments and pain. However, there are risks of post-operative persistent or recurrent symptoms, requiring meticulous diagnostic re-evaluation before any additional surgery. Health-care professionals should have increased awareness about CTS and all its implications. Future considerations of CTS include use of linked national registries to understand risk factors, explore possible screening methods, and evaluate diagnosis and treatment with a broader perspective beyond surgery, including psychological well-being.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"37"},"PeriodicalIF":76.9,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141088088","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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