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}
Kristopher T Kahle, Petra M Klinge, Jenna E Koschnitzky, Abhaya V Kulkarni, Nanna MacAulay, Shenandoah Robinson, Steven J Schiff, Jennifer M Strahle
{"title":"Paediatric hydrocephalus.","authors":"Kristopher T Kahle, Petra M Klinge, Jenna E Koschnitzky, Abhaya V Kulkarni, Nanna MacAulay, Shenandoah Robinson, Steven J Schiff, Jennifer M Strahle","doi":"10.1038/s41572-024-00519-9","DOIUrl":"10.1038/s41572-024-00519-9","url":null,"abstract":"<p><p>Hydrocephalus is classically considered as a failure of cerebrospinal fluid (CSF) homeostasis that results in the active expansion of the cerebral ventricles. Infants with hydrocephalus can present with progressive increases in head circumference whereas older children often present with signs and symptoms of elevated intracranial pressure. Congenital hydrocephalus is present at or near birth and some cases have been linked to gene mutations that disrupt brain morphogenesis and alter the biomechanics of the CSF-brain interface. Acquired hydrocephalus can develop at any time after birth, is often caused by central nervous system infection or haemorrhage and has been associated with blockage of CSF pathways and inflammation-dependent dysregulation of CSF secretion and clearance. Treatments for hydrocephalus mainly include surgical CSF shunting or endoscopic third ventriculostomy with or without choroid plexus cauterization. In utero treatment of fetal hydrocephalus is possible via surgical closure of associated neural tube defects. Long-term outcomes for children with hydrocephalus vary widely and depend on intrinsic (genetic) and extrinsic factors. Advances in genomics, brain imaging and other technologies are beginning to refine the definition of hydrocephalus, increase precision of prognostication and identify nonsurgical treatment strategies.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"35"},"PeriodicalIF":81.5,"publicationDate":"2024-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140958528","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}
Michael Weller, Patrick Y Wen, Susan M Chang, Linda Dirven, Michael Lim, Michelle Monje, Guido Reifenberger
{"title":"Glioma.","authors":"Michael Weller, Patrick Y Wen, Susan M Chang, Linda Dirven, Michael Lim, Michelle Monje, Guido Reifenberger","doi":"10.1038/s41572-024-00516-y","DOIUrl":"https://doi.org/10.1038/s41572-024-00516-y","url":null,"abstract":"<p><p>Gliomas are primary brain tumours that are thought to develop from neural stem or progenitor cells that carry tumour-initiating genetic alterations. Based on microscopic appearance and molecular characteristics, they are classified according to the WHO classification of central nervous system (CNS) tumours and graded into CNS WHO grades 1-4 from a low to high grade of malignancy. Diffusely infiltrating gliomas in adults comprise three tumour types with distinct natural course of disease, response to treatment and outcome: isocitrate dehydrogenase (IDH)-mutant and 1p/19q-codeleted oligodendrogliomas with the best prognosis; IDH-mutant astrocytomas with intermediate outcome; and IDH-wild-type glioblastomas with poor prognosis. Pilocytic astrocytoma is the most common glioma in children and is characterized by circumscribed growth, frequent BRAF alterations and favourable prognosis. Diffuse gliomas in children are divided into clinically indolent low-grade tumours and high-grade tumours with aggressive behaviour, with histone 3 K27-altered diffuse midline glioma being the leading cause of glioma-related death in children. Ependymal tumours are subdivided into biologically and prognostically distinct types on the basis of histology, molecular biomarkers and location. Although surgery, radiotherapy and alkylating agent chemotherapy are the mainstay of glioma treatment, individually tailored strategies based on tumour-intrinsic dominant signalling pathways have improved outcome in subsets of patients.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"10 1","pages":"33"},"PeriodicalIF":81.5,"publicationDate":"2024-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140898022","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":"Shared decision-making to design care that fits for each patient","authors":"Marleen Kunneman","doi":"10.1038/s41572-024-00522-0","DOIUrl":"https://doi.org/10.1038/s41572-024-00522-0","url":null,"abstract":"In shared decision-making, patients and clinicians work together to make care decisions. This method of care is ethically desirable and practically feasible and may be effective in making care fit: forming plans of care that maximally respond to the patient’s situation and priorities while minimally disrupting their lives.","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"122 1","pages":""},"PeriodicalIF":81.5,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140828003","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":"Severe cutaneous adverse reactions","authors":"","doi":"10.1038/s41572-024-00520-2","DOIUrl":"https://doi.org/10.1038/s41572-024-00520-2","url":null,"abstract":"This PrimeView highlights the epidemiology of severe cutaneous adverse reactions, and summarizes the mechanisms, diagnosis and management of this disorder. It accompanies the Primer article on this topic by Hung et al.","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"1 1","pages":""},"PeriodicalIF":81.5,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140802335","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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