Background & Objectives: To evaluate immature granulocytes, a new inflammatory biomarker, and other markers in short- and long-term prognosis in patients with acute ischemic stroke (AIS). Methods: Laboratory information system data from a tertiary hospital in Turkiye were used in this retrospective study. Of the 327 patients with the diagnosis of AIS, 275 recovered, and 52 died. It was determined that 31 of these 275 patients, who were followed up retrospectively, died within 12 months after discharge. Routinely measured immature granulocyte (IG), other hemogram parameters in the Sysmex XN 1000 (XN-1000-Hematology-Analyzer-Sysmex Corporation, Japan), and demographic data were statistically compared in both groups. We tried to estimate the short- and long-term mortality from the blood samples of these patients at their first admission to the hospital. Results: Of the patients included in the study, 150 (45.9%) were female, and 177 (54.1%) were male. National Institutes Of Health Stroke Scale (NIHSS) (AUC=960), length of stay (AUC=791), red blood cell distribution width – standard deviation (RDW-CV) (AUC=728), and IG (AUC=712) were the most effective parameters in predicting short-term mortality, while age (AUC=764) in predicting long-term mortality was the most effective parameters. Conclusion: IG, together with NIHSS and length of stay, shows moderate and high predictive properties in prognosticating short-term mortality but is ineffective in prognosticating long-term mortality. Age was found to be the most predictive marker for long-term mortality.
{"title":"Immature granulocyte and other markers in prediction of the short-term and long-term prognosis of patients with acute ischemic stroke","authors":"Idris Kocatürk, Sedat Gülten","doi":"10.54029/2023dcd","DOIUrl":"https://doi.org/10.54029/2023dcd","url":null,"abstract":"Background & Objectives: To evaluate immature granulocytes, a new inflammatory biomarker, and other markers in short- and long-term prognosis in patients with acute ischemic stroke (AIS). Methods: Laboratory information system data from a tertiary hospital in Turkiye were used in this retrospective study. Of the 327 patients with the diagnosis of AIS, 275 recovered, and 52 died. It was determined that 31 of these 275 patients, who were followed up retrospectively, died within 12 months after discharge. Routinely measured immature granulocyte (IG), other hemogram parameters in the Sysmex XN 1000 (XN-1000-Hematology-Analyzer-Sysmex Corporation, Japan), and demographic data were statistically compared in both groups. We tried to estimate the short- and long-term mortality from the blood samples of these patients at their first admission to the hospital. Results: Of the patients included in the study, 150 (45.9%) were female, and 177 (54.1%) were male. National Institutes Of Health Stroke Scale (NIHSS) (AUC=960), length of stay (AUC=791), red blood cell distribution width – standard deviation (RDW-CV) (AUC=728), and IG (AUC=712) were the most effective parameters in predicting short-term mortality, while age (AUC=764) in predicting long-term mortality was the most effective parameters. Conclusion: IG, together with NIHSS and length of stay, shows moderate and high predictive properties in prognosticating short-term mortality but is ineffective in prognosticating long-term mortality. Age was found to be the most predictive marker for long-term mortality.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"27 15","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139188895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yasemin Dinç, R. Ozpar, Gizem Mesut, Farid Hojjati, B. Hakyemez, Mustafa Bakar
Background & Objective: Intracranial atherosclerotic disease (ICAD) is a prevalent cause of ischemic stroke and is related to recurrent strokes. In this study, we aim to identify the ICAD rate and establish the risk factors in patients with acute ischemic stroke (AIS) in our population in Turkey. Methods: Eight hundred sixty-two patients diagnosed with AIS in our tertiary centre between 01-01.2019 and 01.01.2021 were retrospectively included in this study. Results: We detected ICAD in 172 (20%) patients. While the independent risk factors of anterior ICAD were hypertension and diabetes mellitus, the risk factors of posterior ICAD were advanced age, diabetes mellitus, hyperlipidaemia and vertebral artery hypoplasia. There were more frequent posterior ICAD. Conclusion: There was difference in the risk factors for anterior ICAD and posterior ICAD in this Turkish study.
{"title":"Evaluation of intracranial atherosclerotic disease risk factors in patients with acute ischemic stroke","authors":"Yasemin Dinç, R. Ozpar, Gizem Mesut, Farid Hojjati, B. Hakyemez, Mustafa Bakar","doi":"10.54029/2023xhu","DOIUrl":"https://doi.org/10.54029/2023xhu","url":null,"abstract":"Background & Objective: Intracranial atherosclerotic disease (ICAD) is a prevalent cause of ischemic stroke and is related to recurrent strokes. In this study, we aim to identify the ICAD rate and establish the risk factors in patients with acute ischemic stroke (AIS) in our population in Turkey. Methods: Eight hundred sixty-two patients diagnosed with AIS in our tertiary centre between 01-01.2019 and 01.01.2021 were retrospectively included in this study. Results: We detected ICAD in 172 (20%) patients. While the independent risk factors of anterior ICAD were hypertension and diabetes mellitus, the risk factors of posterior ICAD were advanced age, diabetes mellitus, hyperlipidaemia and vertebral artery hypoplasia. There were more frequent posterior ICAD. Conclusion: There was difference in the risk factors for anterior ICAD and posterior ICAD in this Turkish study.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"32 3","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139189819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background Objective: Postoperative stroke is a serious adverse event, a major cause of morbidity and mortality after coronary artery bypass grafting (CABG). This study is designed to determine the incidence of stroke after CABG and to identify the preoperative, intraoperative and postoperative risk factors associated with the development of a stroke. Methods: Between January 2019 and December 2022, 1.555 CABG were performed. Retrospective analysis of the patient files revealed that 24 (1.48%) patients had stroke in the postoperative period. Variables were compared with patients without neurological deficits (n=50) who had undergone CABG. Predictors of preoperative, intraoperative and postoperative stroke were identified. Results: The incidence of postoperative stroke was 1.48% (n=24). Mean age of these patients was 63.86 ± 8.58 years, and 59 (79.7%) were males. Chronic renal failure (p= 0.011), previous CABG (p=0.009), carotid artery disease (p=0.009), CRP levels (p=0.004) and Monocyte/Lymphocyte ratio (p=0.019) were identified as important preoperative risk factors for stroke development but there were no diffirence prevalence of age, sex, diabetes, hypertension, congestive heart failure and atrial fibrillation. Conclusion: Five variables (chronic renal failure, prior CABD, prior carotid artery disease, preoperative CRP levels and Monocyte/Lymphocyte ratio were found as risk factors for stroke after CABG. The development of postoperative stroke is associated with multiple morbidities and increased mortality. Careful assessment and management of risk factors should be implemented to reduce this important complication after CABG.
{"title":"Predictors associated with stroke after coronary artery bypass grafting in Turkish population","authors":"Esra Eruyar, Kaan Kaya","doi":"10.54029/2023apk","DOIUrl":"https://doi.org/10.54029/2023apk","url":null,"abstract":"Background Objective: Postoperative stroke is a serious adverse event, a major cause of morbidity and mortality after coronary artery bypass grafting (CABG). This study is designed to determine the incidence of stroke after CABG and to identify the preoperative, intraoperative and postoperative risk factors associated with the development of a stroke. Methods: Between January 2019 and December 2022, 1.555 CABG were performed. Retrospective analysis of the patient files revealed that 24 (1.48%) patients had stroke in the postoperative period. Variables were compared with patients without neurological deficits (n=50) who had undergone CABG. Predictors of preoperative, intraoperative and postoperative stroke were identified. Results: The incidence of postoperative stroke was 1.48% (n=24). Mean age of these patients was 63.86 ± 8.58 years, and 59 (79.7%) were males. Chronic renal failure (p= 0.011), previous CABG (p=0.009), carotid artery disease (p=0.009), CRP levels (p=0.004) and Monocyte/Lymphocyte ratio (p=0.019) were identified as important preoperative risk factors for stroke development but there were no diffirence prevalence of age, sex, diabetes, hypertension, congestive heart failure and atrial fibrillation. Conclusion: Five variables (chronic renal failure, prior CABD, prior carotid artery disease, preoperative CRP levels and Monocyte/Lymphocyte ratio were found as risk factors for stroke after CABG. The development of postoperative stroke is associated with multiple morbidities and increased mortality. Careful assessment and management of risk factors should be implemented to reduce this important complication after CABG.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"15 2","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139189871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gabriele-de Vries syndrome (GADEVS) is an extremely rare genetic syndrome characterized by mild-to-profound intellectual disability/developmental delay and a wide spectrum of clinical features. Herein, we report a case involving a rare early childhood epilepsy phenotype in a patient diagnosed with GADEVS based on the typical clinical features and the identification of a pathologic variant of the Yin Yang 1 (YY1) gene. A 3-year-old girl with global developmental delay, failure to thrive, and facial dysmorphism was referred to our rare genetic clinic. She also presented with cognitive impairment, hypotonia, hyperlaxity, strabismus, and autistic features. Whole genome sequencing identified a de novo heterozygous missense variant in the YY1 (c.1130A>G; p.His377Arg) gene. Notably, she developed afebrile seizures with abnormal electroencephalogram in early childhood. Currently, she has been seizure-free for more than 2 years with valproic acid. This case expands the epilepsy phenotypic features of GADEVS and reviews the association between the loss-of-function of the YY1 gene and epileptogenesis and possible treatment options.
{"title":"A rare epilepsy phenotype in Gabriele-de Vries syndrome: A new case and literature review","authors":"Hyewon Woo, Won Seop Kim, Jon Soo Kim","doi":"10.54029/2023eat","DOIUrl":"https://doi.org/10.54029/2023eat","url":null,"abstract":"Gabriele-de Vries syndrome (GADEVS) is an extremely rare genetic syndrome characterized by mild-to-profound intellectual disability/developmental delay and a wide spectrum of clinical features. Herein, we report a case involving a rare early childhood epilepsy phenotype in a patient diagnosed with GADEVS based on the typical clinical features and the identification of a pathologic variant of the Yin Yang 1 (YY1) gene. A 3-year-old girl with global developmental delay, failure to thrive, and facial dysmorphism was referred to our rare genetic clinic. She also presented with cognitive impairment, hypotonia, hyperlaxity, strabismus, and autistic features. Whole genome sequencing identified a de novo heterozygous missense variant in the YY1 (c.1130A>G; p.His377Arg) gene. Notably, she developed afebrile seizures with abnormal electroencephalogram in early childhood. Currently, she has been seizure-free for more than 2 years with valproic acid. This case expands the epilepsy phenotypic features of GADEVS and reviews the association between the loss-of-function of the YY1 gene and epileptogenesis and possible treatment options.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"71 2","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139191433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Centronuclear myopathy (CNM) is one of the congenital myopathies characterized by centrally located nuclei in the muscle fibers. Currently, more than 30 pathogenic variants in the dynamin 2 (DNM2) genes have been identified. Here, we describe a 63-year-old female who presented with slowly progressive limb weakness with no facial weakness or ophthalmoplegia. Electromyographical myotonia without clinical myotonia was noted. In the DNM2 gene, whole-genome sequencing revealed the heterozygous variant c.1936G>T (p.Asp646Tyr), which was not reported previously. Muscle pathology identified many fibers with centrally located nuclei, with the predominance of type 1 fibers. Thus, the patient was finally diagnosed with DNM2-associated CNM with a novel pathogenic variant and with unusually mild phenotype.
{"title":"Centronuclear myopathy with a novel variant (p.Asp646Tyr) in the DNM2 gene exhibits mild clinical manifestations: A case report","authors":"Youngho Kim, M. Kwack, Jong-Mok Lee","doi":"10.54029/2023feu","DOIUrl":"https://doi.org/10.54029/2023feu","url":null,"abstract":"Centronuclear myopathy (CNM) is one of the congenital myopathies characterized by centrally located nuclei in the muscle fibers. Currently, more than 30 pathogenic variants in the dynamin 2 (DNM2) genes have been identified. Here, we describe a 63-year-old female who presented with slowly progressive limb weakness with no facial weakness or ophthalmoplegia. Electromyographical myotonia without clinical myotonia was noted. In the DNM2 gene, whole-genome sequencing revealed the heterozygous variant c.1936G>T (p.Asp646Tyr), which was not reported previously. Muscle pathology identified many fibers with centrally located nuclei, with the predominance of type 1 fibers. Thus, the patient was finally diagnosed with DNM2-associated CNM with a novel pathogenic variant and with unusually mild phenotype.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"95 5","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139193660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objective: To describe the clinical, radiological characteristics and outcomes of patients with Idiopathic intracranial hypertension (IIH) at 6 months in a cohort of South Indian patients. Methods: We did a prospective study on patients presented to our institute with the symptomatology of IIH. A detailed history regarding headache, visual symptoms were noted. A complete neurological examination including examination of the fundus, CSF opening pressure, MRI brain, and MR cerebral venography were performed for all subjects. The patients were followed-up for 6 months to assess treatment response. Results: We evaluated 49 patients, the majority were females, and 38.7% had grade 1 obesity. Headache was the most common clinical presentation. The most common MRI abnormality was empty sella turcica, noted in 47%. There was a significant positive correlation between CSF opening pressure and headache severity (R2= 0.165, p = 0.018), as well as between CSF opening pressure and the grade of papilledema (R2=0.245, p=0.001). Of the cases, 95% responded to medical management, and three patients of fulminant IIH underwent lumbar-peritoneal shunting. At 6 months, 60% had persistent headaches. Only 8.7% had persistent visual symptoms, and only one had optic atrophy. There was no significant correlation between the follow-up grade of papilledema and the patient’s BMI. No significant correlation was found between the amount of weight lost and the improvement in the Numerical Rating Scale (NRS) score at 6 months. Conclusion: Headache in IIH is multifactorial and a significant cause of disability. The overall prognosis for vision is good. IIH should be suspected in any obese woman with headaches since it is one of the preventable causes of blindness.
{"title":"Clinical, radiological profile and outcomes of patients with idiopathic intracranial hypertension: a prospective study in the South Indian population","authors":"Mohamed Azharudeen, Ravi Lalapet Anbazhagan, Kannan Vellaichamy, Chandramouleeswaran Venkatraman, Balasubramanian Samivel","doi":"10.54029/2023ijr","DOIUrl":"https://doi.org/10.54029/2023ijr","url":null,"abstract":"Objective: To describe the clinical, radiological characteristics and outcomes of patients with Idiopathic intracranial hypertension (IIH) at 6 months in a cohort of South Indian patients. Methods: We did a prospective study on patients presented to our institute with the symptomatology of IIH. A detailed history regarding headache, visual symptoms were noted. A complete neurological examination including examination of the fundus, CSF opening pressure, MRI brain, and MR cerebral venography were performed for all subjects. The patients were followed-up for 6 months to assess treatment response. Results: We evaluated 49 patients, the majority were females, and 38.7% had grade 1 obesity. Headache was the most common clinical presentation. The most common MRI abnormality was empty sella turcica, noted in 47%. There was a significant positive correlation between CSF opening pressure and headache severity (R2= 0.165, p = 0.018), as well as between CSF opening pressure and the grade of papilledema (R2=0.245, p=0.001). Of the cases, 95% responded to medical management, and three patients of fulminant IIH underwent lumbar-peritoneal shunting. At 6 months, 60% had persistent headaches. Only 8.7% had persistent visual symptoms, and only one had optic atrophy. There was no significant correlation between the follow-up grade of papilledema and the patient’s BMI. No significant correlation was found between the amount of weight lost and the improvement in the Numerical Rating Scale (NRS) score at 6 months. Conclusion: Headache in IIH is multifactorial and a significant cause of disability. The overall prognosis for vision is good. IIH should be suspected in any obese woman with headaches since it is one of the preventable causes of blindness.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"176 7","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139195755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yin Yin Tan, Ting Yoong Tee, Farn Ye Chew, Huey Tean Kok, Nor Haizura Abd Rani, L. Ngu, Shanthi Viswanathan
We report a case of 25 years old male presented with a complex phenotype of myoclonic epilepsy with ragged red fibers (MERRF) and mitochondrial encephalomyopathy, lactic acidosis and stroke- like episodes (MELAS) harbouring m.3252A>G mutation in the mitochondrially encoded tRNA leucine 1 (UUA/G) [MT-TL1] gene encoding the mitochondrial transfer ribonucleic acid (tRNA) for leucine. He presented with frequent myoclonus seizure, stroke-like episodes, elevated blood lactate with muscle biopsy showed numerous ragged-red fibers suggestive of a mitochondrial disorder. Whole mitochondrial genome sequencing revealed no mutations other than the A-to-G transition at nucleotide position 3252. This case report is the first to describe the m.3252A>G mutation in association with the MERRF/MELAS overlap syndrome.
{"title":"Mitochondrial DNA 3252A>G mutation presenting as MERRF/MELAS overlapping syndrome: A case report","authors":"Yin Yin Tan, Ting Yoong Tee, Farn Ye Chew, Huey Tean Kok, Nor Haizura Abd Rani, L. Ngu, Shanthi Viswanathan","doi":"10.54029/2023tzs","DOIUrl":"https://doi.org/10.54029/2023tzs","url":null,"abstract":"We report a case of 25 years old male presented with a complex phenotype of myoclonic epilepsy with ragged red fibers (MERRF) and mitochondrial encephalomyopathy, lactic acidosis and stroke- like episodes (MELAS) harbouring m.3252A>G mutation in the mitochondrially encoded tRNA leucine 1 (UUA/G) [MT-TL1] gene encoding the mitochondrial transfer ribonucleic acid (tRNA) for leucine. He presented with frequent myoclonus seizure, stroke-like episodes, elevated blood lactate with muscle biopsy showed numerous ragged-red fibers suggestive of a mitochondrial disorder. Whole mitochondrial genome sequencing revealed no mutations other than the A-to-G transition at nucleotide position 3252. This case report is the first to describe the m.3252A>G mutation in association with the MERRF/MELAS overlap syndrome.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"18 4","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139187815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tayfun Çinleti, Gamze Sarıkaya Uzan, Büşra Bürçe, Yağmur Küçümen, Hatice Yelda Yalçın, S. Gürsoy, U. Yiş, A. Çağlayan, Özlem GİRAY BOZKAYA
Warburg Micro syndrome is a rare autosomal recessive disease due to pathogenic variants found most commonly in the RAB3GAP1 gene. It is commonly seen in consanguineous marriages and is characterized by optic, neurologic, endocrinologic and some non-typical findings (cardiomyopathy, peripheral neuropathy). Here, we report two male patients from healthy consanguineous and non- consanguineous carrier parents, with homozygous variants of the RAB3GAP1 gene, presenting with bilateral congenital cataracts, hypogonadism, hypotonia and developmental delay. The first case had a novel variant and had colpocephaly as shown in his MRI brain, which has not been previously reported in the medical literature. The second case was thought to have a founder mutation for Turkey. In conclusion, there was no phenotypical difference between the novel and founder mutations. In Turkish patients suspected to have Warburg Micro syndrome, we recommend molecular testing for the detection of a founder mutation.
{"title":"Phenotypic comparison of a novel variant (p.P164R) and A founder mutation (c.748+1G>A) in Warburg Micro syndrome","authors":"Tayfun Çinleti, Gamze Sarıkaya Uzan, Büşra Bürçe, Yağmur Küçümen, Hatice Yelda Yalçın, S. Gürsoy, U. Yiş, A. Çağlayan, Özlem GİRAY BOZKAYA","doi":"10.54029/2023htk","DOIUrl":"https://doi.org/10.54029/2023htk","url":null,"abstract":"Warburg Micro syndrome is a rare autosomal recessive disease due to pathogenic variants found most commonly in the RAB3GAP1 gene. It is commonly seen in consanguineous marriages and is characterized by optic, neurologic, endocrinologic and some non-typical findings (cardiomyopathy, peripheral neuropathy). Here, we report two male patients from healthy consanguineous and non- consanguineous carrier parents, with homozygous variants of the RAB3GAP1 gene, presenting with bilateral congenital cataracts, hypogonadism, hypotonia and developmental delay. The first case had a novel variant and had colpocephaly as shown in his MRI brain, which has not been previously reported in the medical literature. The second case was thought to have a founder mutation for Turkey. In conclusion, there was no phenotypical difference between the novel and founder mutations. In Turkish patients suspected to have Warburg Micro syndrome, we recommend molecular testing for the detection of a founder mutation.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"45 3","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139191469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. Koh, Kheng Seang Lim, Si-Lei Fong, Christine Audrey, Xuen Yu, Chong-Tin Tan
Background: Despite the shift of the COVID-19 era, the post-pandemic impacts on healthcare for people with epilepsy (PWE) remain unknown. This study aimed to determine the clinical, logistic, and psychological impacts of the COVID-19 pandemic during and after COVID-19 containment measures. Method: This is a longitudinal study over two years. Clinical and psychological outcomes of COVID-19 were assessed with the Hospital Anxiety Depression Scale (HADS) and Quality of Life in Epilepsy Inventory (QOLIE-31). Result: A total of 239 patients were recruited, with a mean age of 38.32±14.16 years, and 51.5% were male. Seventy-nine (33.1%) were previously infected with COVID-19. As compared to during the COVID-19 pandemic, the percentage of patients who reported seizure worsening (13.0%) remained the same after the pandemic. The main reasons associated with seizure worsening include baseline seizure frequency ≥1 per month (54.8%), stress (61.3%) and fatigue (48.4%), despite more accessible clinic appointments (49.4%), medication supply (67.8%) and emergency units (62.8%). Psychologically, after the COVID-19 pandemic, PWE reported similar anxiety (4.65±4.46 vs. 4.78±3.72, p=0.715) and depression scores (3.81±3.97 vs. 3.86±3.52, p=0.869) than during the pandemic. Despite improvement in clinical and logistics factors, PWE experiences worsening in quality of life (57.44±15.41 vs. 61.70±15.05, p=<.001), especially in the emotional well-being, cognitive, medication effects, and social function subscales. Conclusion: Despite the improvement in clinical and medication access in the post-COVID-19 era, the challenges and consequences of the pandemic remained, without an improvement in seizure control and psychological well-being, and worsening quality of life.
背景：尽管 COVID-19 时代已经过去，但大流行后对癫痫患者（PWE）医疗保健的影响仍不得而知。本研究旨在确定 COVID-19 大流行期间和之后的临床、后勤和心理影响。研究方法：这是一项为期两年的纵向研究。采用医院焦虑抑郁量表（HADS）和癫痫患者生活质量量表（QOLIE-31）对COVID-19的临床和心理影响进行评估。研究结果共招募了 239 名患者，平均年龄为（38.32±14.16）岁，51.5% 为男性。79人（33.1%）曾感染过COVID-19。与 COVID-19 大流行期间相比，大流行后报告癫痫发作恶化的患者比例（13.0%）保持不变。与癫痫发作恶化相关的主要原因包括基线发作频率≥每月1次（54.8%）、压力（61.3%）和疲劳（48.4%），尽管有更方便的门诊预约（49.4%）、药物供应（67.8%）和急诊室（62.8%）。在心理方面，与大流行期间相比，COVID-19 大流行后，PWE 报告的焦虑（4.65±4.46 vs. 4.78±3.72，p=0.715）和抑郁（3.81±3.97 vs. 3.86±3.52，p=0.869）得分相似。尽管临床和后勤因素有所改善，但 PWE 的生活质量却有所下降（57.44±15.41 vs. 61.70±15.05，p=<.001），尤其是在情绪健康、认知、用药效果和社会功能分量表中。结论尽管后COVID-19时代的临床和药物治疗得到了改善，但大流行带来的挑战和后果依然存在，癫痫发作控制和心理健康没有得到改善，生活质量也在恶化。
{"title":"The impact of COVID-19 on people with epilepsy is not over, a longitudinal study","authors":"M. Koh, Kheng Seang Lim, Si-Lei Fong, Christine Audrey, Xuen Yu, Chong-Tin Tan","doi":"10.54029/2023xhk","DOIUrl":"https://doi.org/10.54029/2023xhk","url":null,"abstract":"Background: Despite the shift of the COVID-19 era, the post-pandemic impacts on healthcare for people with epilepsy (PWE) remain unknown. This study aimed to determine the clinical, logistic, and psychological impacts of the COVID-19 pandemic during and after COVID-19 containment measures. Method: This is a longitudinal study over two years. Clinical and psychological outcomes of COVID-19 were assessed with the Hospital Anxiety Depression Scale (HADS) and Quality of Life in Epilepsy Inventory (QOLIE-31). Result: A total of 239 patients were recruited, with a mean age of 38.32±14.16 years, and 51.5% were male. Seventy-nine (33.1%) were previously infected with COVID-19. As compared to during the COVID-19 pandemic, the percentage of patients who reported seizure worsening (13.0%) remained the same after the pandemic. The main reasons associated with seizure worsening include baseline seizure frequency ≥1 per month (54.8%), stress (61.3%) and fatigue (48.4%), despite more accessible clinic appointments (49.4%), medication supply (67.8%) and emergency units (62.8%). Psychologically, after the COVID-19 pandemic, PWE reported similar anxiety (4.65±4.46 vs. 4.78±3.72, p=0.715) and depression scores (3.81±3.97 vs. 3.86±3.52, p=0.869) than during the pandemic. Despite improvement in clinical and logistics factors, PWE experiences worsening in quality of life (57.44±15.41 vs. 61.70±15.05, p=<.001), especially in the emotional well-being, cognitive, medication effects, and social function subscales. Conclusion: Despite the improvement in clinical and medication access in the post-COVID-19 era, the challenges and consequences of the pandemic remained, without an improvement in seizure control and psychological well-being, and worsening quality of life.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"19 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139192249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: The purpose of this study is to determine if patients with atrial fibrillation and stroke can benefit from receiving care at home under the supervision of remote specialist nurses through internet-based telehealth nursing. Methods: We selected a total of 168 patients with atrial fibrillation and stroke, who were treated in our hospital from January 2018 to December 2019. The patients were divided into a traditional at-home self-help nursing group (the control group) and an internet-based telehealth nursing group involving specialist nurses based on the post-discharge convalescence nursing modes (the experimental group). The patients were followed up and observed for 12 months, and the survival rate, readmission rate, daily life activities, limb motor ability, psychological state, cardiac function and rhythm control, adverse event rate, and the nursing satisfaction of the patients and their families were evaluated for the two different nursing modes. Results: Compared with traditional at- home nursing, internet-based telehealth nursing provided by specialist nurses resulted in a significant improvement in the survival rate of patients. Additionally, the readmission due to atrial fibrillation or stroke was significantly reduced, the daily activities and limb motor ability were significantly improved, the patients’ anxiety and depression were reduced, and the cardiac function index and rhythm control showed obvious improvement. In addition, the rates of bedsores and minor hemorrhage events were lower, and the nursing satisfaction levels of the patients and their families were significantly higher. Conclusion: Patients with atrial fibrillation and stroke benefit greatly from internet-based telehealth nursing provided by specialized nurses, both in terms of prognosis and quality of life. As a result, this approach to nursing care deserves wider adoption and dissemination.
{"title":"The effect of internet-based telehealth nursing on the quality of life in patients with atrial fibrillation and stroke","authors":"Meng Zhang, Wei Guo","doi":"10.54029/2023hdr","DOIUrl":"https://doi.org/10.54029/2023hdr","url":null,"abstract":"Background: The purpose of this study is to determine if patients with atrial fibrillation and stroke can benefit from receiving care at home under the supervision of remote specialist nurses through internet-based telehealth nursing. Methods: We selected a total of 168 patients with atrial fibrillation and stroke, who were treated in our hospital from January 2018 to December 2019. The patients were divided into a traditional at-home self-help nursing group (the control group) and an internet-based telehealth nursing group involving specialist nurses based on the post-discharge convalescence nursing modes (the experimental group). The patients were followed up and observed for 12 months, and the survival rate, readmission rate, daily life activities, limb motor ability, psychological state, cardiac function and rhythm control, adverse event rate, and the nursing satisfaction of the patients and their families were evaluated for the two different nursing modes. Results: Compared with traditional at- home nursing, internet-based telehealth nursing provided by specialist nurses resulted in a significant improvement in the survival rate of patients. Additionally, the readmission due to atrial fibrillation or stroke was significantly reduced, the daily activities and limb motor ability were significantly improved, the patients’ anxiety and depression were reduced, and the cardiac function index and rhythm control showed obvious improvement. In addition, the rates of bedsores and minor hemorrhage events were lower, and the nursing satisfaction levels of the patients and their families were significantly higher. Conclusion: Patients with atrial fibrillation and stroke benefit greatly from internet-based telehealth nursing provided by specialized nurses, both in terms of prognosis and quality of life. As a result, this approach to nursing care deserves wider adoption and dissemination.","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"174 2","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139188172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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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