Neurology. Clinical practice最新文献

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Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome. 科凯恩综合征的认知功能衰退及其他晚期神经并发症。
IF 2.2
Neurology. Clinical practice Pub Date : 2024-08-01 Epub Date: 2024-05-16 DOI: 10.1212/CPJ.0000000000200309
Geetanjali Rajamani, Seth A Stafki, Audrey L Daugherty, William G Mantyh, Hannah R Littel, Christine C Bruels, Christina A Pacak, Paul D Robbins, Laura J Niedernhofer, Adesoji Abiona, Paola Giunti, Shehla Mohammed, Vincent Laugel, Peter B Kang
{"title":"Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome.","authors":"Geetanjali Rajamani, Seth A Stafki, Audrey L Daugherty, William G Mantyh, Hannah R Littel, Christine C Bruels, Christina A Pacak, Paul D Robbins, Laura J Niedernhofer, Adesoji Abiona, Paola Giunti, Shehla Mohammed, Vincent Laugel, Peter B Kang","doi":"10.1212/CPJ.0000000000200309","DOIUrl":"10.1212/CPJ.0000000000200309","url":null,"abstract":"<p><strong>Background and objectives: </strong>Cockayne syndrome (CS) is an ultra-rare, autosomal recessive, premature aging disorder characterized by impaired growth, neurodevelopmental delays, neurodegeneration, polyneuropathy, and other multiorgan system complications. The anatomic aspects of CS neurodegeneration have long been known from postmortem examinations and MRI studies, but the clinical features of this neurodegeneration are not well characterized, especially at later stages of the disease.</p><p><strong>Methods: </strong>This was a retrospective observational study in which individuals with CS who survived beyond 18 years were ascertained at 3 centers in the United States, France, and the United Kingdom. Medical records were examined to determine the frequencies and features of the following neurologic complications: neurocognitive/neuropsychiatric decline (8 symptoms), tremors, neuropathy, seizures, and strokes.</p><p><strong>Results: </strong>Among 18 individuals who met inclusion criteria, all but one (94.4%) experienced at least one symptom of neurocognitive/neuropsychiatric decline, with most individuals experiencing at least half of those symptoms. Most participants experienced tremors and peripheral neuropathy, with a few experiencing seizures and strokes. For individuals with available data, 100.0% were reported to have gait ataxia and neuroimaging showed that 85.7% had generalized cerebral atrophy on MRI while 78.6% had white matter changes.</p><p><strong>Discussion: </strong>Symptoms of neurocognitive/neuropsychiatric decline are nearly universal in our cohort of adults with CS, suggesting that these individuals are at risk of developing neurocognitive/neuropsychiatric decline, with symptoms related to but not specific to dementia. Considering the prominent role of DNA repair defects in CS disease mechanisms and emerging evidence for increased DNA damage in neurodegenerative disease, impaired genome maintenance may be a shared pathway underlying multiple forms of neurocognitive/neuropsychiatric decline. Components of the DNA damage response mechanism may bear further study as potential therapeutic targets that could alleviate neurocognitive/neuropsychiatric symptoms in CS and other neurodegenerative disorders.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11129329/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141160326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Worldwide Survey on Approach to Thrombolysis in Acute Ischemic Stroke With Large Vessel Occlusion. 关于大血管闭塞性急性缺血性脑卒中溶栓治疗方法的全球调查。
IF 2.2
Neurology. Clinical practice Pub Date : 2024-08-01 Epub Date: 2024-05-31 DOI: 10.1212/CPJ.0000000000200317
Nishita Singh, Nima Kashani, Alonso G Zea Vera, Aleksander Tkach, Aravind Ganesh
{"title":"Worldwide Survey on Approach to Thrombolysis in Acute Ischemic Stroke With Large Vessel Occlusion.","authors":"Nishita Singh, Nima Kashani, Alonso G Zea Vera, Aleksander Tkach, Aravind Ganesh","doi":"10.1212/CPJ.0000000000200317","DOIUrl":"10.1212/CPJ.0000000000200317","url":null,"abstract":"<p><strong>Background and objectives: </strong>With recent trials suggesting that endovascular thrombectomy (EVT) alone may be noninferior to combined intravenous thrombolysis (IVT) with alteplase and EVT and that tenecteplase is non-inferior to alteplase in treating acute ischemic stroke, we sought to understand current practices around the world for treating acute ischemic stroke with large vessel occlusion (LVO) depending on the center of practice (IVT-capable vs IVT and EVT-capable stroke center).</p><p><strong>Methods: </strong>The electronic survey launched by the Practice Current section of Neurology: Clinical Practice included 6 clinical and 8 demographic questions. A single-case scenario was presented of a 65-year-old man presenting with right hemiplegia with aphasia with a duration of 1 hour. Imaging showed left M1-MCA occlusion with no early ischemic changes. The respondents were asked about their treatment approach in 2 settings: the patient presented to (1) the IVT-only capable center and (2) the IVT and EVT-capable center. They were also asked about the thrombolytic agent of choice in current and ideal circumstances for these settings.</p><p><strong>Results: </strong>A total of 203 physicians (42.9% vascular neurologists) from 44 countries completed the survey. Most participants (55.2%) spent ≥50% of their time delivering stroke care. The survey results showed that in current practice, more than 90% of respondents would offer IVT + EVT to patients with LVO stroke presenting to either an EVT-capable (91.1%) or IVT-only-capable center (93.6%). Although nearly 80% currently use alteplase for thrombolysis, around 60% would ideally like to switch to tenecteplase independent of the practice setting. These results were similar between stroke and non-stroke neurologists.</p><p><strong>Discussion: </strong>Most physicians prefer IVT before EVT in patients with acute ischemic stroke attributable to large vessel occlusion independent of the practice setting.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11164043/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141306432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Dual Treatment of Refractory Focal Epilepsy and Obsessive-Compulsive Disorder With Intracranial Responsive Neurostimulation. 用颅内反应性神经刺激疗法同时治疗难治性局灶性癫痫和强迫症
IF 2.2
Neurology. Clinical practice Pub Date : 2024-08-01 Epub Date: 2024-06-04 DOI: 10.1212/CPJ.0000000000200318
Marissa A Kellogg, Lia D Ernst, David C Spencer, Proleta Datta, Eran Klein, Mahendra T Bhati, Rajat S Shivacharan, Young-Hoon Nho, Daniel A N Barbosa, Casey H Halpern, Ahmed Raslan
{"title":"Dual Treatment of Refractory Focal Epilepsy and Obsessive-Compulsive Disorder With Intracranial Responsive Neurostimulation.","authors":"Marissa A Kellogg, Lia D Ernst, David C Spencer, Proleta Datta, Eran Klein, Mahendra T Bhati, Rajat S Shivacharan, Young-Hoon Nho, Daniel A N Barbosa, Casey H Halpern, Ahmed Raslan","doi":"10.1212/CPJ.0000000000200318","DOIUrl":"10.1212/CPJ.0000000000200318","url":null,"abstract":"<p><strong>Purpose of the review: </strong>Intracranial neurostimulation is a well-established treatment of neurologic conditions such as drug-resistant epilepsy (DRE) and movement disorders, and there is emerging evidence for using deep brain stimulation to treat obsessive-compulsive disorder (OCD) and depression. Nearly all published reports of intracranial neurostimulation have focused on implanting a single device to treat a single condition. The purpose of this review was to educate neurology clinicians on the background literature informing dual treatment of 2 comorbid neuropsychiatric conditions epilepsy and OCD, discuss ethical and logistical challenges to dual neuropsychiatric treatment with a single device, and demonstrate the promise and pitfalls of this approach through discussion of the first-in-human closed-looped <i>responsive</i> neurostimulator (RNS) implanted to treat both DRE (on-label) and OCD (off-label).</p><p><strong>Recent findings: </strong>We report the first implantation of an intracranial closed-loop neurostimulation device (the RNS system) with the primary goal of treating DRE and a secondary exploratory goal of managing treatment-refractory OCD. The RNS system detects electrophysiologic activity and delivers electrical stimulation through 1 or 2 electrodes implanted into a patient's seizure-onset zones (SOZs). In this case report, we describe a patient with treatment-refractory epilepsy and OCD where the first lead was implanted in the right superior temporal gyrus to target the most active SOZ based on stereotactic EEG (sEEG) recordings and semiology. The second lead was implanted to target the right anterior peri-insular region (a secondary SOZ on sEEG) with the distal-most contacts in the right nucleus accumbens, a putative target for OCD neurostimulation treatment. The RNS system was programmed to detect and record the unique electrophysiologic signature of both the patient's seizures and compulsions and then deliver tailored electrical pulses to disrupt the pathologic circuitry.</p><p><strong>Summary: </strong>Dual treatment of refractory focal epilepsy and OCD with an intracranial closed-loop neurostimulation device is feasible, safe, and potentially effective. However, there are logistical challenges and ethical considerations to this novel approach to treatment, which require complex care coordination by a large multidisciplinary team.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11152646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141284328","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Candida Dublinensis Meningitis in an Immunocompetent Host: A Case Report and Review of the Literature. 免疫功能正常宿主的都柏林念珠菌脑膜炎:病例报告和文献综述。
IF 2.2
Neurology. Clinical practice Pub Date : 2024-08-01 Epub Date: 2024-05-16 DOI: 10.1212/CPJ.0000000000200279
Asra Askari, Jemma Benson, Lucas Felipe Bastos Horta, Ali Daneshmand, Hormuzdiyar Dasenbrock, Anna M Cervantes-Arslanian
{"title":"<i>Candida Dublinensis</i> Meningitis in an Immunocompetent Host: A Case Report and Review of the Literature.","authors":"Asra Askari, Jemma Benson, Lucas Felipe Bastos Horta, Ali Daneshmand, Hormuzdiyar Dasenbrock, Anna M Cervantes-Arslanian","doi":"10.1212/CPJ.0000000000200279","DOIUrl":"10.1212/CPJ.0000000000200279","url":null,"abstract":"<p><strong>Objectives: </strong>This study presents a case of <i>Candida dubliniensis</i> meningitis in an immunocompetent injection drug user and provides a literature review of CNS infections related to <i>C dubliniensis</i>.</p><p><strong>Methods: </strong>A 32-year-old man with a history of opioid use disorder presented with seizures and underwent extensive diagnostic evaluations, including imaging, lumbar puncture, and tissue biopsies. Treatment consisted of antifungal therapy and placement of ventriculoperitoneal shunt (VPS).</p><p><strong>Results: </strong><i>C dublinensis</i> meningitis was identified on culture from a posterior fossa arachnoid sample. The patient demonstrated leptomeningeal enhancement on imaging, which resolved following 20 weeks of fluconazole. The development of hydrocephalus necessitated placement of VPS. Additional published cases of <i>C dublinensis</i> meningitis revealed varying presentations, diagnostic methods, and treatment regimens.</p><p><strong>Discussion: </strong><i>C dublinensis</i> meningitis is a rare condition affecting both immunocompromised and immunocompetent individuals, particularly those with intravenous drug use. The diagnosis can be challenging, often requiring repeat lumbar punctures, extensive CSF sampling, or meningeal biopsy. Treatment involves a combination of antifungal agents, such as amphotericin B and fluconazole. Intracranial hypertension and hydrocephalus may necessitate surgical intervention. In conclusion, <i>C dublinensis</i> meningitis should be considered as a potential etiology of meningitis, particularly in those with a history of injection drug use.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11129330/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141160224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Extrapyramidal System/Symptoms/Signs Should Be Retired. 锥体外系系统: 症状: 多数体征应退休。
IF 2.2
Neurology. Clinical practice Pub Date : 2024-08-01 Epub Date: 2024-05-16 DOI: 10.1212/CPJ.0000000000200308
Abhishek Lenka, Joseph Jankovic
{"title":"Extrapyramidal System/Symptoms/Signs Should Be Retired.","authors":"Abhishek Lenka, Joseph Jankovic","doi":"10.1212/CPJ.0000000000200308","DOIUrl":"10.1212/CPJ.0000000000200308","url":null,"abstract":"<p><p>The term \"extrapyramidal system/symptoms/signs\" and the acronym \"EPS\" have been abundantly used in neurology and psychiatry literature for more than a century. However, EPS has been increasingly criticized, especially by movement disorder neurologists, for its lack of clinical, anatomical, and physiologic definition. Contrary to traditional assumptions, pyramidal and extrapyramidal systems are not mutually exclusive. The acronym EPS, commonly used to denote drug-induced movement disorders, lacks specificity in conveying the nature and severity of these and other movement disorders. Consequently, we propose that the term is retired from scientific literature and that clinicians use specific phenomenologic descriptors for the various hypokinetc and hyperkinetic movement disorders.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11129327/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141160442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Subspecialty Health Care Utilization in Pediatric Patients With Muscular Dystrophy in the United States. 美国肌肉萎缩症儿科患者使用亚专科医疗服务的情况。
IF 2.2
Neurology. Clinical practice Pub Date : 2024-08-01 Epub Date: 2024-05-31 DOI: 10.1212/CPJ.0000000000200312
Susan E Matesanz, Jonathan B Edelson, Katherine A Iacobellis, Erika Mejia, John F Brandsema, Carol A Wittlieb-Weber, Oluwatimilehin Okunowo, Heather Griffis, Kimberly Y Lin
{"title":"Subspecialty Health Care Utilization in Pediatric Patients With Muscular Dystrophy in the United States.","authors":"Susan E Matesanz, Jonathan B Edelson, Katherine A Iacobellis, Erika Mejia, John F Brandsema, Carol A Wittlieb-Weber, Oluwatimilehin Okunowo, Heather Griffis, Kimberly Y Lin","doi":"10.1212/CPJ.0000000000200312","DOIUrl":"10.1212/CPJ.0000000000200312","url":null,"abstract":"<p><strong>Background and objectives: </strong>Standards of care exist to optimize outcomes in Duchenne and Becker muscular dystrophy (DBMD), caused by alterations in the DMD gene; however, there are limited data regarding health care access in these patients. This study aims to characterize outpatient subspecialty care utilization in pediatric patients with DBMD.</p><p><strong>Methods: </strong>This retrospective cohort study used administrative claims data from IBM MarketScan Medicaid and Commercial Claims and Encounters Research Databases (2013-2018). Male patients 1-18 years with an <i>ICD-9/10</i> diagnosis code for hereditary progressive muscular dystrophy between January 1, 2013, and December 31, 2017, were included. Participants were stratified into 3 age cohorts: 1-6 years, 7-12 years, and 13-18 years. The primary outcome was rate of annual neurology visits. Secondary outcomes included annual follow-up rates in other subspecialties and proportion of days covered (PDC) by corticosteroids.</p><p><strong>Results: </strong>A total of 1,386 patients met inclusion-347 (25.0%) age 1-6 years, 502 (36.2%) age 7-12 years, and 537 (38.7%) age 13-18 years. Heart failure, respiratory failure, and technology dependence increased with age (<i>p</i> for all<0.05). The rate of neurology visits per person-year was 0.36 and did not differ by age. Corticosteroid use was low; 30% of person-years (1452/4829) had a PDC ≥20%. Medicaid insurance was independently associated with a lower likelihood of annual neurology follow-up (OR 0.23; 95% CI 0.18-0.28).</p><p><strong>Discussion: </strong>The rate of annual neurology follow-up and corticosteroid use in patients with DBMD is low. Medicaid insurance status was independently associated with a decreased likelihood of neurology follow-up, while age was not, suggesting that factors other than disease severity influence neurology care access. Identifying barriers to regular follow-up is critical in improving outcomes for patients with DBMD.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11160481/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141296474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations. 最佳实践中的脊髓肌肉萎缩症更新:诊断注意事项建议。
IF 2.3
Neurology. Clinical practice Pub Date : 2024-08-01 Epub Date: 2024-05-24 DOI: 10.1212/CPJ.0000000000200310
Mary Schroth, Jennifer Deans, Kapil Arya, Diana Castro, Darryl C De Vivo, Melissa A Gibbons, Cristian Ionita, Nancy L Kuntz, Arpita Lakhotia, Erin Neil Knierbein, Mariacristina Scoto, Thomas Sejersen, Laurent Servais, Cuixia Tian, Megan A Waldrop, Juan F Vázquez-Costa
{"title":"Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations.","authors":"Mary Schroth, Jennifer Deans, Kapil Arya, Diana Castro, Darryl C De Vivo, Melissa A Gibbons, Cristian Ionita, Nancy L Kuntz, Arpita Lakhotia, Erin Neil Knierbein, Mariacristina Scoto, Thomas Sejersen, Laurent Servais, Cuixia Tian, Megan A Waldrop, Juan F Vázquez-Costa","doi":"10.1212/CPJ.0000000000200310","DOIUrl":"10.1212/CPJ.0000000000200310","url":null,"abstract":"<p><strong>Background and objectives: </strong>Spinal muscular atrophy (SMA) is an autosomal recessive progressive neurodegenerative primary motor neuron disorder caused by biallelic variants of the survival motor neuron 1 (<i>SMN1</i>) gene. The most recent SMA best practice recommendations were published in 2018 shortly after the approval of the first SMN-enhancing treatment. The availability of disease-modifying therapies for 5q SMA and implementation of SMA newborn screening (NBS) has led to urgency to update the SMA best practice recommendations for diagnosis and to reevaluate the current classification of SMA. In addition, the availability of disease-modifying therapies has opened the door to explore improved diagnosis of adult-onset SMA.</p><p><strong>Methods: </strong>A systematic literature review was conducted on SMA NBS. An SMA working group of American and European health care providers developed recommendations through a modified Delphi technique with serial surveys and virtual meeting feedback on SMA diagnosis to fill information gaps for topics with limited evidence. A community working group of an individual with SMA and caregivers provided insight and perspective on SMA diagnosis and support through a virtual meeting to guide recommendations.</p><p><strong>Results: </strong>The health care provider working group achieved consensus that SMA NBS is essential to include in the updated best practice for SMA diagnosis (100%). Recommendations for the following are described: characterizing NBS-identified infants before treatment; minimum recommendations for starting or offering SMA NBS in a state or country; recommendations for activities and services to be provided by an SMA specialty care center accepting SMA NBS referrals; and recommendations for partnership with individuals with SMA and caregivers to support NBS-identified infants and their caregivers. Limited data are available to advance efficient diagnosis of adult-onset SMA.</p><p><strong>Discussion: </strong>Updating best practice recommendations for SMA diagnosis to include SMA NBS implementation is essential to advancing care for individuals with SMA. In addition to testing, processes for the efficient management of positive newborn screen with access to knowledgeable and skilled health care providers and access to treatment options is critical to successful early diagnosis. Additional evidence is required to improve adult-onset SMA diagnosis.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11195435/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141446629","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sexual Orientation, Gender Identity, and Experiences During, Awareness of, and Attitudes Toward Research for People With Parkinson Disease. 性取向、性别认同以及帕金森病患者在研究过程中的经历、对研究的认识和态度。
IF 2.3
Neurology. Clinical practice Pub Date : 2024-08-01 Epub Date: 2024-05-16 DOI: 10.1212/CPJ.0000000000200304
Ece Bayram, Nicole Rigler, Kevin T Wang, Andrew Tsai, Jason D Flatt
{"title":"Sexual Orientation, Gender Identity, and Experiences During, Awareness of, and Attitudes Toward Research for People With Parkinson Disease.","authors":"Ece Bayram, Nicole Rigler, Kevin T Wang, Andrew Tsai, Jason D Flatt","doi":"10.1212/CPJ.0000000000200304","DOIUrl":"10.1212/CPJ.0000000000200304","url":null,"abstract":"<p><strong>Background and objectives: </strong>Presentation, progression, and treatment of Parkinson disease (PD) can differ based on sex and gender. However, knowledge on PD is limited by the characteristics of research participants, and most of the participants are men. In this study, we aimed to identify the attitudes toward and barriers to research participation for people with PD (PwP) based on their sexual orientation and gender identity.</p><p><strong>Methods: </strong>Data were obtained from the Fox Insight on March 16, 2023, for PwP who completed the <i>Attitudes and Beliefs Regarding Research and Genetic Testing for PD</i>. Responses were compared between sexual and gender minorities (SGM) (n = 136), cisgender heterosexual women (n = 1,479), and cisgender heterosexual men (n = 1,445). Associations between age, socioeconomic variables, and the responses that differed between the groups were assessed with linear models.</p><p><strong>Results: </strong>More than 68% of the participants were willing to participate in research; only 43.7% heard about research opportunities, and 52.3% knew where to find a study. Approximately 86.8% of the participants reported hearing about a study from their doctor would make them more likely to participate. A higher percentage of SGM were concerned about transportation and researchers not understanding or respecting their beliefs; a higher percentage of cisgender heterosexual women were concerned about transportation, data privacy, and their family's reaction to genetic results; and a higher percentage of cisgender heterosexual men were concerned about time required for research activities and complex forms. Age and socioeconomic variables were significantly associated with approach toward research that differed between the groups.</p><p><strong>Discussion: </strong>PwP are willing to participate in research, and health care providers can facilitate their participation. Barriers to research participation related to sexual and gender identity exist and must be addressed to increase our understanding of PD in underrepresented populations.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11129331/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141160697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Enhancing Clinical Infrastructure for the Delivery of Intrathecal and Genetic Therapies: A Qalsody (Tofersen) Model for Patients With SOD1-ALS. 加强鞘内注射和基因治疗的临床基础设施:针对 SOD1-ALS 患者的 Qalsody (Tofersen) 模型。
IF 2.2
Neurology. Clinical practice Pub Date : 2024-08-01 Epub Date: 2024-05-16 DOI: 10.1212/CPJ.0000000000200303
Jennifer Morganroth, Tanya M Bardakjian, Laynie Dratch, Colin C Quinn, Lauren B Elman
{"title":"Enhancing Clinical Infrastructure for the Delivery of Intrathecal and Genetic Therapies: A Qalsody (Tofersen) Model for Patients With <i>SOD1</i>-ALS.","authors":"Jennifer Morganroth, Tanya M Bardakjian, Laynie Dratch, Colin C Quinn, Lauren B Elman","doi":"10.1212/CPJ.0000000000200303","DOIUrl":"10.1212/CPJ.0000000000200303","url":null,"abstract":"<p><strong>Background: </strong>Qalsody (tofersen), an intrathecal therapy (IT) antisense oligonucleotide (ASO), was granted accelerated approval by the Food and Drug Administration for the treatment of <i>SOD1</i>-mediated amyotrophic lateral sclerosis (ALS) on April 25, 2023. Academic centers need to be prepared for expedited drug delivery. The purpose of this model was to predict the number of <i>SOD1</i>-ALS patients whom we expect to see at our center at the time of Qalsody approval and to use it to extrapolate to a model for a hypothetical sporadic IT ALS therapy.</p><p><strong>Recent findings: </strong>We predicted that 6 symptomatic and 14 presymptomatic <i>SOD1</i> patients would come to our center, whereas a sporadic therapy would generate 108 patients, creating excess office visits, lumbar punctures, and genetic counseling visits.</p><p><strong>Implications for practice: </strong>As new therapies for neurologic diseases come to market, preparing for increased office volume and complex drug delivery are essential for optimal care.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11157423/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141296423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Patterns of Acute Ischemic Stroke Treatment from 2010 to 2020: An Evolving Landscape in Stroke Management Following Thrombectomy Trials. 2010 至 2020 年急性缺血性脑卒中的治疗模式:血栓切除术试验后脑卒中治疗格局的演变。
IF 2.2
Neurology. Clinical practice Pub Date : 2024-06-01 Epub Date: 2024-04-15 DOI: 10.1212/CPJ.0000000000200297
Ahmed Elbayomy, Jason J Kim, Simon G Ammanuel, Daniel Traverzo, Sindhu Battula, Azam Ahmed
{"title":"Patterns of Acute Ischemic Stroke Treatment from 2010 to 2020: An Evolving Landscape in Stroke Management Following Thrombectomy Trials.","authors":"Ahmed Elbayomy, Jason J Kim, Simon G Ammanuel, Daniel Traverzo, Sindhu Battula, Azam Ahmed","doi":"10.1212/CPJ.0000000000200297","DOIUrl":"10.1212/CPJ.0000000000200297","url":null,"abstract":"<p><strong>Background and objectives: </strong>Population-based studies on stroke can help guide the care of patients with acute ischemic stroke (AIS) by providing health care communities with information regarding the current usage of stroke treatments. It remains unclear how rapidly new techniques, particularly endovascular stroke treatment (EST), are being adopted and whether there is any disparity in their availability. Although studies using the National Inpatient Sample (NIS) have been conducted, updated studies over a longer period may provide further insights. This study aimed to understand patterns of AIS treatment, discharge disposition, in-hospital mortality, and mean length of stay (LOS) for each modality from 2010 to 2020 using the NIS database.</p><p><strong>Methods: </strong>This retrospective longitudinal study was conducted using NIS data from 2010 to 2020. Patients were categorized into groups based on whether they received intravenous recombinant tissue plasminogen activator (rt-PA), EST, both rt-PA and EST (combined therapy), or supportive care alone. Demographic, socioeconomic, regional, insurance, and hospital data were also obtained. The primary outcome was the proportion of patients receiving each modality, whereas the secondary outcomes were in-hospital mortality, mean LOS, and discharge disposition.</p><p><strong>Results: </strong>The usage rates increased (<i>p</i> < 0.001) in all groups between 2010 and 2020 (rt-PA: 5.09% to 8.39%, EST: 0.31% to 4.40%, and rt-PA+EST: 0.46% to 1.09%). The highest increase in usage was observed for EST, with a thirteen-fold increase. Mortality decreased from 2010 to 2020 in all groups (rt-PA: 8.45% to 3.54%, EST: 25.22% to 12.50%, and rt-PA+EST: 21.12% in 2010 to 9.30%) (<i>p</i> < 0.001). Combination therapy demonstrated the greatest improvement, with an 11.2% reduction in absolute mortality. Mean LOS was reduced for patients who received rt-PA (6.8 to 4.8 days), EST (9.3 to 8.9 days), and combined therapy (10.0 to 8.3 days) (<i>p</i> < 0.001) over the study period. The proportion of patients discharged to home increased for rt-PA (29.01% to 41.85%), EST (14.13% to 17.70%), and combined therapy (12.89% to 24.29%) (<i>p</i> < 0.001). Overall, stroke treatment usage was higher among the higher income groups, regardless of race. Higher usage was also observed for Whites in the West and Hispanic ethnicities in the South and West. Regardless of income or treatment method, utilization rates were lower for Black patients. Utilization rates were lower for Black patients with Medicare, Medicaid, or self-pay than for White patients.</p><p><strong>Discussion: </strong>Our study demonstrated that endovascular stroke treatment continues to expand, leading to better outcomes for mortality, LOS, and home discharge. Despite these positive patterns, there are visible inequities across regions, income status, and races.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11073869/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140892205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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