Pub Date : 2024-11-15DOI: 10.1016/j.jns.2024.123236
Massimo Leone , Luca Giani , Monica Mwazangati , Derya Uluduz , Tayyar Şaşmaz , Victor Tamba Tolno , Giovanni Guidotti , Timothy J. Steiner
{"title":"Addressing the barrier of transport costs in accessing headache care in sub-Saharan Africa","authors":"Massimo Leone , Luca Giani , Monica Mwazangati , Derya Uluduz , Tayyar Şaşmaz , Victor Tamba Tolno , Giovanni Guidotti , Timothy J. Steiner","doi":"10.1016/j.jns.2024.123236","DOIUrl":"10.1016/j.jns.2024.123236","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"466 ","pages":"Article 123236"},"PeriodicalIF":3.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142290004","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-15DOI: 10.1016/j.jns.2024.123237
Lien-Chung Wei , Hsien-Jane Chiu
The article by Leone et al. (2024) highlights the significant barrier of transport costs in accessing headache care for HIV-positive patients in Malawi, a concern that resonates with challenges observed in opioid agonist therapy (OAT) in Taiwan. This letter draws parallels between the findings of Leone et al. and the Taiwanese experience, where distance to treatment centers has been shown to influence patients' choice of OAT. The discussion underscores the importance of expanding healthcare service availability and exploring telemedicine as potential solutions to mitigate geographical barriers. Integrating these approaches could improve patient retention and treatment outcomes in both regions. This commentary emphasizes the broader implications of transport-related barriers in healthcare access, advocating for strategic interventions to enhance healthcare delivery in resource-limited settings.
Leone 等人（2024 年）的文章强调了马拉维 HIV 阳性患者在接受头痛治疗时所面临的交通费用这一重大障碍，这一问题与台湾在阿片类受体激动剂治疗（OAT）方面所面临的挑战不谋而合。这封信将 Leone 等人的研究结果与台湾的经验相提并论，在台湾，治疗中心的距离被证明会影响患者对 OAT 的选择。讨论强调了扩大医疗服务供应和探索远程医疗作为缓解地理障碍的潜在解决方案的重要性。将这些方法结合起来，可以改善这两个地区的患者保留率和治疗效果。这篇评论强调了与交通相关的障碍对医疗服务获取的广泛影响，提倡采取战略性干预措施，以改善资源有限环境中的医疗服务。
{"title":"Addressing the barrier of transport costs in accessing headache care in Sub-Saharan Africa","authors":"Lien-Chung Wei , Hsien-Jane Chiu","doi":"10.1016/j.jns.2024.123237","DOIUrl":"10.1016/j.jns.2024.123237","url":null,"abstract":"<div><div>The article by Leone et al. (2024) highlights the significant barrier of transport costs in accessing headache care for HIV-positive patients in Malawi, a concern that resonates with challenges observed in opioid agonist therapy (OAT) in Taiwan. This letter draws parallels between the findings of Leone et al. and the Taiwanese experience, where distance to treatment centers has been shown to influence patients' choice of OAT. The discussion underscores the importance of expanding healthcare service availability and exploring telemedicine as potential solutions to mitigate geographical barriers. Integrating these approaches could improve patient retention and treatment outcomes in both regions. This commentary emphasizes the broader implications of transport-related barriers in healthcare access, advocating for strategic interventions to enhance healthcare delivery in resource-limited settings.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"466 ","pages":"Article 123237"},"PeriodicalIF":3.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142290003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-15DOI: 10.1016/j.jns.2024.123309
Georgios Koutsis , Chrisoula Kartanou , Zoi Kontogeorgiou , Chrysoula Koniari , Alexandros Mitrousias , David Pellerin , Marie-Jose Dicaire , Pablo Iruzubieta , Matt C. Danzi , Konstantinos Athanassopoulos , Nikolaos Ragazos , Maria Stamelou , Michail Rentzos , Evangelos Anagnostou , Stephan Zuchner , Bernard Brais , Henry Houlden , Marios Panas , Leonidas Stefanis , Georgia Karadima
Objective
Late-onset cerebellar ataxia (LOCA) is a slowly progressive cerebellar disorder with symptom onset ≥30 years of age. Intronic tandem repeat expansions (TREs) in RFC1 and FGF14 have recently emerged as common causes of LOCA. The relative contribution of classic vs. newly discovered TREs has not been systematically investigated in LOCA cohorts.
Methods
Over 28 years, 206 consecutive Greek LOCA index patients were referred for genetic testing and, based on clinical data and inheritance pattern, screened for FRDA, SCA1,2,3,6,7, FXTAS, CANVAS and SCA27B.
Results
A genetic diagnosis was reached in 62 of 206 cases (30.1 %). Mean age was 60.1 ± 11.2 (35–87) years and mean age at onset (AAO) 52.5 ± 11.4 (30–80) years. SCA27B accounted for 9.7 % of LOCA cases, CANVAS for 7.8 % and FRDA for 4.4 %. The overall frequency of SCA1, SCA2 and SCA7 was 6.8 %. No cases of SCA3 and SCA6 were identified. FXTAS contributed 1.5 % of cases. In sporadic cases, the diagnostic yield was 22.8 % (34 of 149; SCA27B: 8.7 %, CANVAS: 8.1 %, FRDA: 2.7 %, SCA2: 1.3 %, FXTAS: 1.3 % and SCA7: 0.7 %). In familial cases, the diagnostic yield was 49.1 % (28 of 57). Two cases with CANVAS had pseudodominant inheritance. Patients with SCA27B, CANVAS and FXTAS had mean AAO > 50 years, whereas patients with FRDA, SCA1, SCA2 and SCA7 had mean AAO < 50 years.
Conclusion
Recently-discovered TREs causing SCA27B and CANVAS represent the commonest known genetic causes of LOCA. Prioritizing testing for FGF14 and RFC1 expansions in the diagnostic algorithm of LOCA is recommended.
{"title":"Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms","authors":"Georgios Koutsis , Chrisoula Kartanou , Zoi Kontogeorgiou , Chrysoula Koniari , Alexandros Mitrousias , David Pellerin , Marie-Jose Dicaire , Pablo Iruzubieta , Matt C. Danzi , Konstantinos Athanassopoulos , Nikolaos Ragazos , Maria Stamelou , Michail Rentzos , Evangelos Anagnostou , Stephan Zuchner , Bernard Brais , Henry Houlden , Marios Panas , Leonidas Stefanis , Georgia Karadima","doi":"10.1016/j.jns.2024.123309","DOIUrl":"10.1016/j.jns.2024.123309","url":null,"abstract":"<div><h3>Objective</h3><div>Late-onset cerebellar ataxia (LOCA) is a slowly progressive cerebellar disorder with symptom onset ≥30<!--> <!-->years of age. Intronic tandem repeat expansions (TREs) in <em>RFC1</em> and <em>FGF14</em> have recently emerged as common causes of LOCA. The relative contribution of classic vs. newly discovered TREs has not been systematically investigated in LOCA cohorts.</div></div><div><h3>Methods</h3><div>Over 28 years, 206 consecutive Greek LOCA index patients were referred for genetic testing and, based on clinical data and inheritance pattern, screened for FRDA, SCA1,2,3,6,7, FXTAS, CANVAS and SCA27B.</div></div><div><h3>Results</h3><div>A genetic diagnosis was reached in 62 of 206 cases (30.1 %). Mean age was 60.1 ± 11.2 (35–87) years and mean age at onset (AAO) 52.5 ± 11.4 (30–80) years. SCA27B accounted for 9.7 % of LOCA cases, CANVAS for 7.8 % and FRDA for 4.4 %. The overall frequency of SCA1, SCA2 and SCA7 was 6.8 %. No cases of SCA3 and SCA6 were identified. FXTAS contributed 1.5 % of cases. In sporadic cases, the diagnostic yield was 22.8 % (34 of 149; SCA27B: 8.7 %, CANVAS: 8.1 %, FRDA: 2.7 %, SCA2: 1.3 %, FXTAS: 1.3 % and SCA7: 0.7 %). In familial cases, the diagnostic yield was 49.1 % (28 of 57). Two cases with CANVAS had pseudodominant inheritance. Patients with SCA27B, CANVAS and FXTAS had mean AAO > 50 years, whereas patients with FRDA, SCA1, SCA2 and SCA7 had mean AAO < 50 years.</div></div><div><h3>Conclusion</h3><div>Recently-discovered TREs causing SCA27B and CANVAS represent the commonest known genetic causes of LOCA. Prioritizing testing for <em>FGF14</em> and <em>RFC1</em> expansions in the diagnostic algorithm of LOCA is recommended.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"467 ","pages":"Article 123309"},"PeriodicalIF":3.6,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142687502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-14DOI: 10.1016/j.jns.2024.123308
Carlo Manco, Rosa Cortese, Nicola De Stefano
{"title":"REPLY: Hippocampal atrophy and white matter lesions as predictors of the transition from VMCI to vascular dementia: Implications for early intervention","authors":"Carlo Manco, Rosa Cortese, Nicola De Stefano","doi":"10.1016/j.jns.2024.123308","DOIUrl":"10.1016/j.jns.2024.123308","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"467 ","pages":"Article 123308"},"PeriodicalIF":3.6,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-14DOI: 10.1016/j.jns.2024.123307
Anna Ayu Herawati , Ahmad Syaf ya Habibi , Rizky Andana Pohan
{"title":"Hippocampal atrophy and white matter lesions as predictors of the transition from VMCI to vascular dementia: Implications for early intervention","authors":"Anna Ayu Herawati , Ahmad Syaf ya Habibi , Rizky Andana Pohan","doi":"10.1016/j.jns.2024.123307","DOIUrl":"10.1016/j.jns.2024.123307","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"467 ","pages":"Article 123307"},"PeriodicalIF":3.6,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142687451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-13DOI: 10.1016/j.jns.2024.123305
Carlo Manco , Domenico Plantone , Delia Righi , Sara Locci , Sabina Bartalini , Roberto Marconi , Nicola De Stefano
Background
Creutzfeldt-Jakob disease (CJD) is a rapidly progressive neurodegenerative disorder characterized by neuronal damage. Emerging biomarkers, such as serum neurofilament light chain (sNfL), glial fibrillary acidic protein (sGFAP), and growth differentiation factor-15 (sGDF-15), are currently being studied for their potential use in this disease.
Objectives
This study analyzes the levels of sNfL, sGFAP, and sGDF-15, as well as their relationships, in patients with CJD compared to healthy controls (HC).
Methods
A total of 19 CJD patients and 81 age- and sex-matched HCs were enrolled. Serum levels of sNfL and sGFAP were measured using ultrasensitive immunoassays, while sGDF-15 levels were assessed via ELISA. Statistical analyses included correlation analysis and analysis of covariance (ANCOVA) models.
Results
CJD patients showed significantly higher serum levels of sNfL and sGFAP compared to HCs (p <0,001). sNfL levels were positively correlated with both sGFAP (Rho = 0,70; p < 0,001) and sGDF-15 (Rho = 0,60; p = 0,004). Interestingly, sGFAP levels were higher in female CJD patients compared to males (p = 0,001), while no significant difference in sNfL levels was observed between sexes.
Conclusions
In conclusion, this study explores the potential of sNfL, sGDF-15, and sGFAP as biomarkers in CJD patients. The higher levels of sNfL and sGFAP in CJD patients compared to healthy controls, along with the observed sex differences in sGFAP, highlight the need for further research into the interaction between astroglia and neurons in CJD, with a focus on sex as a key variable.
{"title":"Serum growth differentiation factor-15, glial fibrillary acidic protein, and neurofilament light chain: Their link and role in Creutzfeldt-Jakob disease","authors":"Carlo Manco , Domenico Plantone , Delia Righi , Sara Locci , Sabina Bartalini , Roberto Marconi , Nicola De Stefano","doi":"10.1016/j.jns.2024.123305","DOIUrl":"10.1016/j.jns.2024.123305","url":null,"abstract":"<div><h3>Background</h3><div>Creutzfeldt-Jakob disease (CJD) is a rapidly progressive neurodegenerative disorder characterized by neuronal damage. Emerging biomarkers, such as serum neurofilament light chain (sNfL), glial fibrillary acidic protein (sGFAP), and growth differentiation factor-15 (sGDF-15), are currently being studied for their potential use in this disease.</div></div><div><h3>Objectives</h3><div>This study analyzes the levels of sNfL, sGFAP, and sGDF-15, as well as their relationships, in patients with CJD compared to healthy controls (HC).</div></div><div><h3>Methods</h3><div>A total of 19 CJD patients and 81 age- and sex-matched HCs were enrolled. Serum levels of sNfL and sGFAP were measured using ultrasensitive immunoassays, while sGDF-15 levels were assessed via ELISA. Statistical analyses included correlation analysis and analysis of covariance (ANCOVA) models.</div></div><div><h3>Results</h3><div>CJD patients showed significantly higher serum levels of sNfL and sGFAP compared to HCs (p <0,001). sNfL levels were positively correlated with both sGFAP (Rho = 0,70; <em>p</em> < 0,001) and sGDF-15 (Rho = 0,60; <em>p</em> = 0,004). Interestingly, sGFAP levels were higher in female CJD patients compared to males (p = 0,001), while no significant difference in sNfL levels was observed between sexes.</div></div><div><h3>Conclusions</h3><div>In conclusion, this study explores the potential of sNfL, sGDF-15, and sGFAP as biomarkers in CJD patients. The higher levels of sNfL and sGFAP in CJD patients compared to healthy controls, along with the observed sex differences in sGFAP, highlight the need for further research into the interaction between astroglia and neurons in CJD, with a focus on sex as a key variable.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"467 ","pages":"Article 123305"},"PeriodicalIF":3.6,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648414","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-12DOI: 10.1016/j.jns.2024.123293
Huzaifa Noor, Muhammad Hadi Baqai, Hufsa Naveed, Tooba Naveed, Syed Sarosh Rehman, Muhammad Shaheer Aslam, Fatima Mustafa Lakdawala, Waleed Abdullah Memon, Sanjana Rani, Haneen Khan, Alizeh Imran, Sabeeh Khawar Farooqui
Creutzfeldt-Jakob Disease (CJD) is one of the sample prion diseases that have characteristic features of rapidly progressive neurodegenerative disease manifested by psychomotor changes, some of which include cognitive dysfunction, motor disorder, and behavioral abnormalities. In general, this brief review will assist in elucidating the clinical features and onset, causes, diagnostic challenges, and therapeutic possibilities of CJD. It is classified into sporadic, hereditary, and acquired forms, and affection is identified as linked to the different prion varieties and genetic profiles. The disease process of CJD consists of the deposition of misfolded prions in the brain that causes apoptosis and the subsequent morphological features in the form of spongiform changes. Diagnostic strategies have changed; presently, one can see imaging methods, diagnosis through CSF biomarkers, and genetic-based diagnosis. At this time, there is no cure for CJD; therefore, management and treatment aim at supporting the patient and alleviating the signs and symptoms of the disease. As per our discussion, this review sought to accustom the readers with recent studies conducted, diagnostic advancements, and probable therapeutic approaches, pointing to the general index that more research is needed to fight CJD.
{"title":"Creutzfeldt-Jakob disease: A comprehensive review of current understanding and research","authors":"Huzaifa Noor, Muhammad Hadi Baqai, Hufsa Naveed, Tooba Naveed, Syed Sarosh Rehman, Muhammad Shaheer Aslam, Fatima Mustafa Lakdawala, Waleed Abdullah Memon, Sanjana Rani, Haneen Khan, Alizeh Imran, Sabeeh Khawar Farooqui","doi":"10.1016/j.jns.2024.123293","DOIUrl":"10.1016/j.jns.2024.123293","url":null,"abstract":"<div><div>Creutzfeldt-Jakob Disease (CJD) is one of the sample prion diseases that have characteristic features of rapidly progressive neurodegenerative disease manifested by psychomotor changes, some of which include cognitive dysfunction, motor disorder, and behavioral abnormalities. In general, this brief review will assist in elucidating the clinical features and onset, causes, diagnostic challenges, and therapeutic possibilities of CJD. It is classified into sporadic, hereditary, and acquired forms, and affection is identified as linked to the different prion varieties and genetic profiles. The disease process of CJD consists of the deposition of misfolded prions in the brain that causes apoptosis and the subsequent morphological features in the form of spongiform changes. Diagnostic strategies have changed; presently, one can see imaging methods, diagnosis through CSF biomarkers, and genetic-based diagnosis. At this time, there is no cure for CJD; therefore, management and treatment aim at supporting the patient and alleviating the signs and symptoms of the disease. As per our discussion, this review sought to accustom the readers with recent studies conducted, diagnostic advancements, and probable therapeutic approaches, pointing to the general index that more research is needed to fight CJD.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"467 ","pages":"Article 123293"},"PeriodicalIF":3.6,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142639203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Parkinson's disease (PD) presents a complex etiology involving genetics and environmental factors. Non-motor symptoms often precede motor manifestations. Dopaminergic neuron degeneration, oxidative stress, and vascular changes characterize PD. Retinal changes are studied as potential biomarkers, yet choroidal involvement remains unclear. This review aims to clarify choroidal thickness's role in PD progression for diagnostic advancements.
Methods
We examined PubMed, Scopus, and Embase databases. Depending on the heterogeneity, an appropriate model was used for the meta-analysis. Additionally, meta-regression, publication bias, subgroup analyses, and quality evaluation were carried out.
Results
We evaluated twelve studies involving 442 PD patients and 608 healthy controls. This study found insignificant differences in choroidal thickness between PD patients and healthy controls.
Conclusion
Choroidal thickness is influenced by age, axial length, and intraocular pressure, with PD potentially impacting thickness through neurodegenerative mechanisms. However, inconsistencies exist in the findings, warranting further investigation. Future studies should explore the impact of disease severity, medication effects, and other confounding variables on choroidal thickness in PD patients. Additionally, advanced imaging modalities like optical coherence tomography angiography (OCTA) may provide more comprehensive evaluations of choroidal vascular changes in PD.
{"title":"Choroidal thickness in the eyes of Parkinson's disease patients measured using optical coherence tomography: A systematic review and meta-analysis","authors":"Sepehr Fekrazad , Golnar Hassanzadeh , Zahra Esmaeili , Amirali Khosravi , Delia Cabrera DeBuc , Asadolah Movahedan","doi":"10.1016/j.jns.2024.123294","DOIUrl":"10.1016/j.jns.2024.123294","url":null,"abstract":"<div><h3>Background</h3><div>Parkinson's disease (PD) presents a complex etiology involving genetics and environmental factors. Non-motor symptoms often precede motor manifestations. Dopaminergic neuron degeneration, oxidative stress, and vascular changes characterize PD. Retinal changes are studied as potential biomarkers, yet choroidal involvement remains unclear. This review aims to clarify choroidal thickness's role in PD progression for diagnostic advancements.</div></div><div><h3>Methods</h3><div>We examined PubMed, Scopus, and Embase databases. Depending on the heterogeneity, an appropriate model was used for the meta-analysis. Additionally, meta-regression, publication bias, subgroup analyses, and quality evaluation were carried out.</div></div><div><h3>Results</h3><div>We evaluated twelve studies involving 442 PD patients and 608 healthy controls. This study found insignificant differences in choroidal thickness between PD patients and healthy controls.</div></div><div><h3>Conclusion</h3><div>Choroidal thickness is influenced by age, axial length, and intraocular pressure, with PD potentially impacting thickness through neurodegenerative mechanisms. However, inconsistencies exist in the findings, warranting further investigation. Future studies should explore the impact of disease severity, medication effects, and other confounding variables on choroidal thickness in PD patients. Additionally, advanced imaging modalities like optical coherence tomography angiography (OCTA) may provide more comprehensive evaluations of choroidal vascular changes in PD.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"467 ","pages":"Article 123294"},"PeriodicalIF":3.6,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-10DOI: 10.1016/j.jns.2024.123295
Zabrina Reyes , Mary Catherine Stovall , Sanjana Punyamurthula , Michele Longo , Demetrius Maraganore , Rebecca J. Solch-Ottaiano
Long COVID, also known as Post COVID-19 condition by the World Health Organization or Post-Acute Sequelae of SARS-CoV-2 infection (PASC), is defined as the development of symptoms such as post-exertional malaise, dysgeusia, and partial or full anosmia three months after initial SARS-CoV-2 infection. The multisystem effects of PASC make it difficult to distinguish from its mimickers. Further, a comprehensive evaluation of the gut microbiome, nutrition, and PASC has yet to be studied. The gut-brain axis describes bidirectional immune, neural, endocrine, and humoral modulatory interactions between the gut microbiome and brain function. We explore recent studies that support an association between alterations in gut microbiome diversity and the severity of acute-phase COVID-19, and how these may be affected by diets rich in antioxidants and fiber. The Mediterranean Diet (MeDi) has demonstrated promising neuroprotective effects through its anti-inflammatory processes. Further, diets rich in fiber increase gut diversity and increase the amount of short-chain fatty acids (SCFAs) within the body—both shown to protect from acute COVID-19 complications. Long-term changes to the gut microbiome persist after acute infection and may increase susceptibility to PASC. This study builds on existing knowledge of determinants of PASC and highlights a relationship between nutrition, gut microbiome, acute-phase COVID-19, and, subsequently, PASC susceptibility.
{"title":"The impact of gut microbiome and diet on post-acute sequelae of SARS-CoV-2 infection","authors":"Zabrina Reyes , Mary Catherine Stovall , Sanjana Punyamurthula , Michele Longo , Demetrius Maraganore , Rebecca J. Solch-Ottaiano","doi":"10.1016/j.jns.2024.123295","DOIUrl":"10.1016/j.jns.2024.123295","url":null,"abstract":"<div><div>Long COVID, also known as Post COVID-19 condition by the World Health Organization or Post-Acute Sequelae of SARS-CoV-2 infection (PASC), is defined as the development of symptoms such as post-exertional malaise, dysgeusia, and partial or full anosmia three months after initial SARS-CoV-2 infection. The multisystem effects of PASC make it difficult to distinguish from its mimickers. Further, a comprehensive evaluation of the gut microbiome, nutrition, and PASC has yet to be studied. The gut-brain axis describes bidirectional immune, neural, endocrine, and humoral modulatory interactions between the gut microbiome and brain function. We explore recent studies that support an association between alterations in gut microbiome diversity and the severity of acute-phase COVID-19, and how these may be affected by diets rich in antioxidants and fiber. The Mediterranean Diet (MeDi) has demonstrated promising neuroprotective effects through its anti-inflammatory processes. Further, diets rich in fiber increase gut diversity and increase the amount of short-chain fatty acids (SCFAs) within the body—both shown to protect from acute COVID-19 complications. Long-term changes to the gut microbiome persist after acute infection and may increase susceptibility to PASC. This study builds on existing knowledge of determinants of PASC and highlights a relationship between nutrition, gut microbiome, acute-phase COVID-19, and, subsequently, PASC susceptibility.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"467 ","pages":"Article 123295"},"PeriodicalIF":3.6,"publicationDate":"2024-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648426","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tau PET is being increasingly appraised as a novel diagnostic modality for dementia work up. Given limited data among South Asians, we assessed the frequency, patterns, phenotypic associations and incremental value of positive Tau PET scans in clinically diagnosed neurodegenerative dementia.
Methods
This cross-sectional study recruited consecutive patients of Alzheimer's disease (AD) and non-AD syndromes (September 2021 to October 2022, India). Participants underwent clinical interview, cognitive assessment, MRI brain and tau PET scan ([F-18]ML-104). Visual read in a priori regions of interest was used to identify patterns of tau deposition in the brain.
Results
We recruited 54 participants (mean age: 63.2 ± 9.2 years, 64.8 % men, 77.8 % dementia, 70.4 % early onset cases, 37.8 % APOE4+). The analysis identified abnormal tau uptake in 40/54 (74.1 %) participants; with uptake in AD signature areas in 27/40 (67.5 %) cases [cortical subtype (74.1 %), limbic (14.8 %), combined cortical/limbic (11.1 %)], and patterns not conforming to AD in 13/40 (32.5 %) cases. Tau PET substantiated the diagnosis of AD among 17/19 (89.5 %) cases with clinically diagnosed AD dementia, 8/23 (34.8 %) cases with suspected non-AD cause, and 2/12 (16.7 %) cases with mild cognitive impairment. A trend for increasing proportion of early onset cases, and worsening cognition, behavior and functional ability was seen, from ‘limbic’ to ‘combined cortical/limbic’ to ‘cortical’ subgroups.
Conclusion
Tau PET is a useful modality to differentiate AD dementia from other neurodegenerative causes in the Indian setting where amyloid biomarkers are not widely available. Biological subtypes of AD map well onto clinical phenotypes and need study in larger cohorts.
背景和目的：Tau PET 越来越多地被认为是一种新型的痴呆诊断方法。鉴于南亚人的数据有限，我们评估了临床诊断神经退行性痴呆中 Tau PET 扫描阳性的频率、模式、表型关联和增量价值：这项横断面研究招募了阿尔茨海默病（AD）和非 AD 综合征的连续患者（2021 年 9 月至 2022 年 10 月，印度）。参与者接受了临床访谈、认知评估、脑磁共振成像和 tau PET 扫描（[F-18]ML-104）。在先验感兴趣区进行视觉阅读，以确定大脑中 tau 的沉积模式：我们招募了 54 名参与者（平均年龄：63.2 ± 9.2 岁，64.8% 为男性，77.8% 为痴呆症患者，70.4% 为早发病例，37.8% 为 APOE4+）。分析发现，40/54（74.1%）名参与者的tau摄取异常；27/40（67.5%）例患者在AD特征区域（皮质亚型（74.1%）、边缘型（14.8%）、皮质/边缘联合型（11.1%））摄取异常，13/40（32.5%）例不符合AD模式。在17/19（89.5%）例临床诊断为AD痴呆的病例、8/23（34.8%）例疑似非AD病因的病例和2/12（16.7%）例轻度认知障碍病例中，Tau PET证实了AD诊断。从 "边缘 "亚组到 "皮质/边缘联合 "亚组再到 "皮质 "亚组，早发病例的比例呈上升趋势，认知、行为和功能能力呈恶化趋势：结论：在淀粉样蛋白生物标记物尚未广泛应用的印度，Tau PET是区分AD痴呆与其他神经退行性病因的一种有效方法。AD的生物学亚型与临床表型有很好的映射关系，需要在更大的队列中进行研究。
{"title":"Utility of Tau PET in the diagnostic work up of neurodegenerative dementia among Indian patients","authors":"Anu Gupta , Madhavi Tripathi , Varuna Sharma , Shubha G. Ravindra , Savyasachi Jain , Gifty Madhu , Anjali , Jyoti Yadav , Inder Singh , Roopa Rajan , Venugopalan Y. Vishnu , Vaibhav Patil , Ashima Nehra , Mamta Bhushan Singh , Rohit Bhatia , Ashok Sharma , Achal K. Srivastava , Shailesh Gaikwad , Manjari Tripathi , M.V. Padma Srivastava","doi":"10.1016/j.jns.2024.123292","DOIUrl":"10.1016/j.jns.2024.123292","url":null,"abstract":"<div><h3>Background and objectives</h3><div>Tau PET is being increasingly appraised as a novel diagnostic modality for dementia work up. Given limited data among South Asians, we assessed the frequency, patterns, phenotypic associations and incremental value of positive Tau PET scans in clinically diagnosed neurodegenerative dementia.</div></div><div><h3>Methods</h3><div>This cross-sectional study recruited consecutive patients of Alzheimer's disease (AD) and non-AD syndromes (September 2021 to October 2022, India). Participants underwent clinical interview, cognitive assessment, MRI brain and tau PET scan ([F-18]ML-104). Visual read in <em>a priori</em> regions of interest was used to identify patterns of tau deposition in the brain.</div></div><div><h3>Results</h3><div>We recruited 54 participants (mean age: 63.2 ± 9.2 years, 64.8 % men, 77.8 % dementia, 70.4 % early onset cases, 37.8 % APOE4+). The analysis identified abnormal tau uptake in 40/54 (74.1 %) participants; with uptake in AD signature areas in 27/40 (67.5 %) cases [cortical subtype (74.1 %), limbic (14.8 %), combined cortical/limbic (11.1 %)], and patterns not conforming to AD in 13/40 (32.5 %) cases. Tau PET substantiated the diagnosis of AD among 17/19 (89.5 %) cases with clinically diagnosed AD dementia, 8/23 (34.8 %) cases with suspected non-AD cause, and 2/12 (16.7 %) cases with mild cognitive impairment. A trend for increasing proportion of early onset cases, and worsening cognition, behavior and functional ability was seen, from ‘limbic’ to ‘combined cortical/limbic’ to ‘cortical’ subgroups.</div></div><div><h3>Conclusion</h3><div>Tau PET is a useful modality to differentiate AD dementia from other neurodegenerative causes in the Indian setting where amyloid biomarkers are not widely available. Biological subtypes of AD map well onto clinical phenotypes and need study in larger cohorts.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"467 ","pages":"Article 123292"},"PeriodicalIF":3.6,"publicationDate":"2024-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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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