Background. Migraine is the most common disorder that affects the population extensively and leads to significant disability in employment, domestic work, and social activities. Postural assessment is one of the important constituents of the clinical analysis of patients with musculoskeletal disorders. Incorrect posture can cause stress on the structures of neck and continuous stress that leads to FHP (forward head posture) and headache. The purpose of the study was to find out the relationship between forward head posture and headache related disability in migraine patients. Methods. The prospective correlational study was carried out to explore the relationship between forward head posture and headache related disability in migraine. 55 participants were recruited in this study examined by photographic method. The forward head posture was measured by craniovertebral angle. Various photographs were taken from the subjects and were uploaded on the Kinovea 08.15 software to measure the craniovertebral angle. Results. The results shows that negative correlation was found between forward head posture and headache related disability. Statistical analysis was done by using Pearson correlation test. Results also showed that lower the CVA (forward head posture), greater the headache related disability either sitting or standing position in migraine patient experienced more headache. Conclusion. FHP with headache related disability in migraine showed moderate to good negative correlation. This study concluded that subjects with migraine headache had more FHP. In migraine patients; CV angle was small as compared to normal subjects. So, CV angle showed negative correlation with migraine.
{"title":"Relationship between forward head posture and headache related disability in migraine","authors":"M. Mónika, Jaspreet Kaur, M. Malik, C. Gera","doi":"10.37897/rjn.2022.2.18","DOIUrl":"https://doi.org/10.37897/rjn.2022.2.18","url":null,"abstract":"Background. Migraine is the most common disorder that affects the population extensively and leads to significant disability in employment, domestic work, and social activities. Postural assessment is one of the important constituents of the clinical analysis of patients with musculoskeletal disorders. Incorrect posture can cause stress on the structures of neck and continuous stress that leads to FHP (forward head posture) and headache. The purpose of the study was to find out the relationship between forward head posture and headache related disability in migraine patients. Methods. The prospective correlational study was carried out to explore the relationship between forward head posture and headache related disability in migraine. 55 participants were recruited in this study examined by photographic method. The forward head posture was measured by craniovertebral angle. Various photographs were taken from the subjects and were uploaded on the Kinovea 08.15 software to measure the craniovertebral angle. Results. The results shows that negative correlation was found between forward head posture and headache related disability. Statistical analysis was done by using Pearson correlation test. Results also showed that lower the CVA (forward head posture), greater the headache related disability either sitting or standing position in migraine patient experienced more headache. Conclusion. FHP with headache related disability in migraine showed moderate to good negative correlation. This study concluded that subjects with migraine headache had more FHP. In migraine patients; CV angle was small as compared to normal subjects. So, CV angle showed negative correlation with migraine.","PeriodicalId":37662,"journal":{"name":"Romanian Journal of Neurology/ Revista Romana de Neurologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42998628","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
T. V. Anilkumar, Sajeesh Parameswaran, Anupama Kurup, M. Aswin Ganesh, V.S. Abhishek, A. Marthanda Pillai
Cheyne-Stokes breathing (CSB) is described by a cyclic variation in breathing with periods of central apneas or hypopneas alternating with periods of hypopneas in a gradual waxing and waning manner. It is usually seen in patients with congestive cardiac failure or neurologic disorders. We describe this rare case of idiopathic central sleep apnea coming in a periodic fashion presenting as CSB pattern without specific causes. Overnight polysomnography test showed central sleep apnea; but cardiac evaluation and magnetic resonance imaging of the brain could not find any cause of this sleep-disordered breathing. Idiopathic central sleep apnea usually presents with poor quality of sleep, but many of them easily misdiagnosed and do not get any proper treatment.
{"title":"Idiopathic central sleep apnea with periodicity presenting as Cheyne-Stokes breathing – Case report","authors":"T. V. Anilkumar, Sajeesh Parameswaran, Anupama Kurup, M. Aswin Ganesh, V.S. Abhishek, A. Marthanda Pillai","doi":"10.37897/rjn.2022.2.15","DOIUrl":"https://doi.org/10.37897/rjn.2022.2.15","url":null,"abstract":"Cheyne-Stokes breathing (CSB) is described by a cyclic variation in breathing with periods of central apneas or hypopneas alternating with periods of hypopneas in a gradual waxing and waning manner. It is usually seen in patients with congestive cardiac failure or neurologic disorders. We describe this rare case of idiopathic central sleep apnea coming in a periodic fashion presenting as CSB pattern without specific causes. Overnight polysomnography test showed central sleep apnea; but cardiac evaluation and magnetic resonance imaging of the brain could not find any cause of this sleep-disordered breathing. Idiopathic central sleep apnea usually presents with poor quality of sleep, but many of them easily misdiagnosed and do not get any proper treatment.","PeriodicalId":37662,"journal":{"name":"Romanian Journal of Neurology/ Revista Romana de Neurologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42312759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background and objective. Changes in grey matter of cortex and other parts of brain leads to increased pain perception in chronic low back pain (CLBP) patients which could be reduced by electrical application on these areas. The objective of the present review was to evaluate the efficacy of transcranial direct current stimulation (tDCS) alone as well as tDCS in combination with other interventions on pain in chronic low back pain patients. Method. PubMed and Cochrane search engines was used to locate the literature. The eligibility criterion for the study includes articles published in English language, published till March 2020 and the application of tDCS alone as well as in combination with other interventions on CLBP patients. Pain intensity was measured by visual analogue scale (VAS), numeric rating scale (NRS) or defense and veteran pain rating scale (DVPRS). Mean difference with 95% CI for the active tDCS, sham tDCS and tDCS in combination with other interventions was calculated. Result. 7 articles, with 427 patients, were included in the quantitative meta-analysis. The result showed statistically significant reduction in pain in tDCS alone as compared to sham tDCS Z= 1.93. P= 0.05 and insignificant reduction in pain in tDCS when used in combination with other intervention as compared to sham tDCS, Z= 0.72, P= 0.47 with heterogeneity of 84 % in the included studies. Conclusion. It can be concluded that there is significant reduction of pain in patients of chronic low back pain when tDCS is applied in isolation.
{"title":"Transcranial Direct Current Stimulation (tDCS) in chronic low back pain: Systematic review with meta-analysis","authors":"Rekha Chaturvedi, Shabnam Joshi, M. Malik","doi":"10.37897/rjn.2022.2.7","DOIUrl":"https://doi.org/10.37897/rjn.2022.2.7","url":null,"abstract":"Background and objective. Changes in grey matter of cortex and other parts of brain leads to increased pain perception in chronic low back pain (CLBP) patients which could be reduced by electrical application on these areas. The objective of the present review was to evaluate the efficacy of transcranial direct current stimulation (tDCS) alone as well as tDCS in combination with other interventions on pain in chronic low back pain patients. Method. PubMed and Cochrane search engines was used to locate the literature. The eligibility criterion for the study includes articles published in English language, published till March 2020 and the application of tDCS alone as well as in combination with other interventions on CLBP patients. Pain intensity was measured by visual analogue scale (VAS), numeric rating scale (NRS) or defense and veteran pain rating scale (DVPRS). Mean difference with 95% CI for the active tDCS, sham tDCS and tDCS in combination with other interventions was calculated. Result. 7 articles, with 427 patients, were included in the quantitative meta-analysis. The result showed statistically significant reduction in pain in tDCS alone as compared to sham tDCS Z= 1.93. P= 0.05 and insignificant reduction in pain in tDCS when used in combination with other intervention as compared to sham tDCS, Z= 0.72, P= 0.47 with heterogeneity of 84 % in the included studies. Conclusion. It can be concluded that there is significant reduction of pain in patients of chronic low back pain when tDCS is applied in isolation.","PeriodicalId":37662,"journal":{"name":"Romanian Journal of Neurology/ Revista Romana de Neurologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48802336","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Neurogenic shock is a life-threatening condition mostly associated with cervical and high thoracic spine injury, whereas transverse myelitis leading to neurogenic shock is extremely rare. An 11-year-old boy was admitted to our center with Landry’s acute flaccid paralysis and urinary retention, which led the patient to severe respiratory distress. The test indicated a high level of protein and white blood cells in cerebrospinal fluid. He was diagnosed with transverse myelitis and then treated with methylprednisolone. The patient developed hypotension (63/45 mmHg), bradycardia (60 beats per minute), warm flushed skin, and decreased consciousness as a result of neurogenic shock. Fluid resuscitation, noradrenalin, and atropine were indicated, and the shock was well controlled. This is the first case of neurogenic shock due to transverse myelitis with Landry’s acute flaccid paralysis in a child we have experienced so far. It highlights that neurogenic shock should be considered in patients with acute transverse myelitis with Landry’s acute flaccid paralysis.
{"title":"Neurogenic shock due to transverse myelitis with Landry’s acute flaccid paralysis in a child","authors":"Kiem Hao Tran, H. Nguyen, Nguyen Loi Vo-Van","doi":"10.37897/rjn.2022.2.16","DOIUrl":"https://doi.org/10.37897/rjn.2022.2.16","url":null,"abstract":"Neurogenic shock is a life-threatening condition mostly associated with cervical and high thoracic spine injury, whereas transverse myelitis leading to neurogenic shock is extremely rare. An 11-year-old boy was admitted to our center with Landry’s acute flaccid paralysis and urinary retention, which led the patient to severe respiratory distress. The test indicated a high level of protein and white blood cells in cerebrospinal fluid. He was diagnosed with transverse myelitis and then treated with methylprednisolone. The patient developed hypotension (63/45 mmHg), bradycardia (60 beats per minute), warm flushed skin, and decreased consciousness as a result of neurogenic shock. Fluid resuscitation, noradrenalin, and atropine were indicated, and the shock was well controlled. This is the first case of neurogenic shock due to transverse myelitis with Landry’s acute flaccid paralysis in a child we have experienced so far. It highlights that neurogenic shock should be considered in patients with acute transverse myelitis with Landry’s acute flaccid paralysis.","PeriodicalId":37662,"journal":{"name":"Romanian Journal of Neurology/ Revista Romana de Neurologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44619058","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Music has marked its presence since the evolution of human society and has occupied our day-to-day life. It has also contributed in forming society and civilizations. Advancement in technology and portability of multimedia devices have made the access to music a common norm. It has various purposes like social cohesion, emotional expressions, interpersonal communication, recreation. It has a great bonding power and is important in terms of social dynamics. As it has an effect on society, so does it have an effect on an individual’s mind and body as well. Music intervention is convenient, inexpensive, user controlled and seems to be influencing the physiological system in a positive way if rightly used, this therapy and its intervention is applied now-a-days in various ailments and disease states as an adjuvant therapy. Vast research is going on to find the right music that could have the desired therapeutic effect where the physiology is deranged from the normal. Effect of music on pain modulation, exercise performance, Cardiac and Autonomic functions, Heart rate variability, emotions, anxiety, stress and entrainment of biological rhythms are well evaluated. Its application in enhancing higher functions like memory tasks and learning are also known. The evident physiological implications of music on various physiological parameters are being elaborated.
{"title":"Role of music therapy in neurological practice","authors":"A. Thakare, Amit Agrawa","doi":"10.37897/rjn.2022.2.8","DOIUrl":"https://doi.org/10.37897/rjn.2022.2.8","url":null,"abstract":"Music has marked its presence since the evolution of human society and has occupied our day-to-day life. It has also contributed in forming society and civilizations. Advancement in technology and portability of multimedia devices have made the access to music a common norm. It has various purposes like social cohesion, emotional expressions, interpersonal communication, recreation. It has a great bonding power and is important in terms of social dynamics. As it has an effect on society, so does it have an effect on an individual’s mind and body as well. Music intervention is convenient, inexpensive, user controlled and seems to be influencing the physiological system in a positive way if rightly used, this therapy and its intervention is applied now-a-days in various ailments and disease states as an adjuvant therapy. Vast research is going on to find the right music that could have the desired therapeutic effect where the physiology is deranged from the normal. Effect of music on pain modulation, exercise performance, Cardiac and Autonomic functions, Heart rate variability, emotions, anxiety, stress and entrainment of biological rhythms are well evaluated. Its application in enhancing higher functions like memory tasks and learning are also known. The evident physiological implications of music on various physiological parameters are being elaborated.","PeriodicalId":37662,"journal":{"name":"Romanian Journal of Neurology/ Revista Romana de Neurologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47874715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ana-Maria Zidaru, F. Paslaru, A. Paslaru, N. Gică, G. Peltecu, A. Panaitescu
Aneurysms are sac-like dilatations of weakened wall areas within blood vessels. Cardiovascular related issues, such as hypertension, can put one at risk of developing such complications, with the possibility of rupturing. In the case of intracranial aneurysms, an outpouching forms where there is turbulent blood flow, often at the bifurcation of arteries. Depending on the morphology and location, different treatments need to be considered, but during pregnancy, further physiological changes also factor into decision making. In pregnant patients, intracranial hemorrhage cases are relatively low, yet they cause a high mortality rate amongst women, hence early detection and management of unruptured aneurysms is of significant importance.
{"title":"Management of unruptured brain aneurysms during pregnancy and puerperium","authors":"Ana-Maria Zidaru, F. Paslaru, A. Paslaru, N. Gică, G. Peltecu, A. Panaitescu","doi":"10.37897/rjn.2022.2.3","DOIUrl":"https://doi.org/10.37897/rjn.2022.2.3","url":null,"abstract":"Aneurysms are sac-like dilatations of weakened wall areas within blood vessels. Cardiovascular related issues, such as hypertension, can put one at risk of developing such complications, with the possibility of rupturing. In the case of intracranial aneurysms, an outpouching forms where there is turbulent blood flow, often at the bifurcation of arteries. Depending on the morphology and location, different treatments need to be considered, but during pregnancy, further physiological changes also factor into decision making. In pregnant patients, intracranial hemorrhage cases are relatively low, yet they cause a high mortality rate amongst women, hence early detection and management of unruptured aneurysms is of significant importance.","PeriodicalId":37662,"journal":{"name":"Romanian Journal of Neurology/ Revista Romana de Neurologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44515607","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background. The high incidence of degenerative-dystrophic spine damage with the variability of research results on the effectiveness of epidural steroid injections for treatment of chronic lower back pain is an urgent issue regarding treatment of this pain with epidural steroid injections only. Objective. The aim of the study is to improve the effectiveness of treatment of chronic lower back pain caused by degenerative spine damage with monotherapy – epidural steroid injections only. Material and methods. The early and long-term treatment outcomes with epidural steroid injections only of 120 patients with chronic lower back pain were analysed. The control group consisted of 36 patients with lower back pain treated conservatively. The results of treatment were assessed by the dynamics of pain regression using the visual analog scale (VAS), as well as the functional status by the Oswestry index. The assessment was performed three times: before treatment, after treatment and six months after it. Results. In the early post-treatment period, reliable results of treatment of chronic lower lumbar pain was evidenced in both the main and control groups. There was no significant difference in treatment outcomes between these groups in the early period, although both the Oswestry index and the VAS by the Student’s T-test showed that the differences were in favour of the main group. There was a significant difference in long-term treatment outcomes between the main and control groups both by the Oswestry index and the VAS in favour of monotherapy with epidural steroid injections. Conclusions. The study proved a high effectiveness of monotherapy with epidural steroid injections for chronic lower back pain caused by degenerative-dystrophic spine damage.
{"title":"Epidural steroid injections in treatment of chronic lower back pain caused by degenerative-dystrophic spine damage","authors":"M. Kvasnitskyi","doi":"10.37897/rjn.2022.2.10","DOIUrl":"https://doi.org/10.37897/rjn.2022.2.10","url":null,"abstract":"Background. The high incidence of degenerative-dystrophic spine damage with the variability of research results on the effectiveness of epidural steroid injections for treatment of chronic lower back pain is an urgent issue regarding treatment of this pain with epidural steroid injections only. Objective. The aim of the study is to improve the effectiveness of treatment of chronic lower back pain caused by degenerative spine damage with monotherapy – epidural steroid injections only. Material and methods. The early and long-term treatment outcomes with epidural steroid injections only of 120 patients with chronic lower back pain were analysed. The control group consisted of 36 patients with lower back pain treated conservatively. The results of treatment were assessed by the dynamics of pain regression using the visual analog scale (VAS), as well as the functional status by the Oswestry index. The assessment was performed three times: before treatment, after treatment and six months after it. Results. In the early post-treatment period, reliable results of treatment of chronic lower lumbar pain was evidenced in both the main and control groups. There was no significant difference in treatment outcomes between these groups in the early period, although both the Oswestry index and the VAS by the Student’s T-test showed that the differences were in favour of the main group. There was a significant difference in long-term treatment outcomes between the main and control groups both by the Oswestry index and the VAS in favour of monotherapy with epidural steroid injections. Conclusions. The study proved a high effectiveness of monotherapy with epidural steroid injections for chronic lower back pain caused by degenerative-dystrophic spine damage.","PeriodicalId":37662,"journal":{"name":"Romanian Journal of Neurology/ Revista Romana de Neurologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41262926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
T. Schreiner, C. Romanescu, O. Schreiner, Dorin Antal, D. Cuciureanu
Post-stroke aphasia is an important topic in clinical rehabilitation neurology, affecting a significant number of stroke patients worldwide each year. Although the anatomical basis of aphasia has been explored for over a century, a revision of disease classification has led to a broader understanding of the subject and has stimulated the field of drug development to yield novel therapies. In this context, the authors commence the current narrative review by presenting the widely accepted aphasia classifications and the corresponding management practices. Subsequently, speech-language therapies are presented, with a focus on the widely preferred patient-centered approach. We conclude with a brief discussion regarding adjunctive treatment options such as pharmacological intervention, non-invasive brain stimulation techniques, and virtual reality rehabilitation.
{"title":"Post-stroke aphasia management – from classical approaches to modern therapies","authors":"T. Schreiner, C. Romanescu, O. Schreiner, Dorin Antal, D. Cuciureanu","doi":"10.37897/rjn.2022.2.2","DOIUrl":"https://doi.org/10.37897/rjn.2022.2.2","url":null,"abstract":"Post-stroke aphasia is an important topic in clinical rehabilitation neurology, affecting a significant number of stroke patients worldwide each year. Although the anatomical basis of aphasia has been explored for over a century, a revision of disease classification has led to a broader understanding of the subject and has stimulated the field of drug development to yield novel therapies. In this context, the authors commence the current narrative review by presenting the widely accepted aphasia classifications and the corresponding management practices. Subsequently, speech-language therapies are presented, with a focus on the widely preferred patient-centered approach. We conclude with a brief discussion regarding adjunctive treatment options such as pharmacological intervention, non-invasive brain stimulation techniques, and virtual reality rehabilitation.","PeriodicalId":37662,"journal":{"name":"Romanian Journal of Neurology/ Revista Romana de Neurologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43160798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
H. Ahmed, Ouardia Belarbi, S. Daoudi, P. Labauge, Carra Dallier Clarisse, Schmitt Perrine, Sanchez Pauline, Séverine Drunate, H. Cavé
Polymerase III (Pol III) related leukodystrophy is a rare class of leukodystrophy, recently recognized affecting the nervous system and other body systems with typical clinical presentation and imaging results. The diagnosis is made by characteristic combination of clinical signs, brain magnetic resonance imaging results and the presence of pathogenic biallelic mutations in specific genes: POLR3A, POLR3B, POLR3C which encode the RNA polymerase III enzyme subunits. We present the case of a 32-year-old young man who presented with spastic ataxia due to a new rare mutation in the POLR3A gene, splicing variant c.3892-5C > T.
聚合酶III (Polymerase III, Pol III)相关的脑白质营养不良是一类罕见的脑白质营养不良，近年来被发现影响神经系统和其他身体系统，具有典型的临床表现和影像学结果。结合临床体征、脑磁共振成像结果以及编码RNA聚合酶III酶亚基的特定基因POLR3A、POLR3B、POLR3C存在致病性双等位基因突变的特征性组合进行诊断。我们报告一例32岁的年轻男性，由于POLR3A基因的一种新的罕见突变，剪接变体c.3892-5C > T出现痉挛性共济失调。
{"title":"A new rare homozygous mutation in the POLR3A gene causes ataxo-spasmodic leukodystrophy","authors":"H. Ahmed, Ouardia Belarbi, S. Daoudi, P. Labauge, Carra Dallier Clarisse, Schmitt Perrine, Sanchez Pauline, Séverine Drunate, H. Cavé","doi":"10.37897/rjn.2022.2.4","DOIUrl":"https://doi.org/10.37897/rjn.2022.2.4","url":null,"abstract":"Polymerase III (Pol III) related leukodystrophy is a rare class of leukodystrophy, recently recognized affecting the nervous system and other body systems with typical clinical presentation and imaging results. The diagnosis is made by characteristic combination of clinical signs, brain magnetic resonance imaging results and the presence of pathogenic biallelic mutations in specific genes: POLR3A, POLR3B, POLR3C which encode the RNA polymerase III enzyme subunits. We present the case of a 32-year-old young man who presented with spastic ataxia due to a new rare mutation in the POLR3A gene, splicing variant c.3892-5C > T.","PeriodicalId":37662,"journal":{"name":"Romanian Journal of Neurology/ Revista Romana de Neurologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46176518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pooja Dugani, A. Mehta, S. Furtado, R. Pradeep, M. Javali, P. Acharya, V. Thyagaraj, R. Srinivasa
Objective. Preliminary clinical data indicate that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is associated with neurological symptoms. To compare the clinical features, imaging and treatments in patients with and without COVID-19. To compare the mortality and in-hospital stay among patients with and without COVID-19 and negative patients. Materials and methods. In this retrospective, single-center study, we included all the patients who attended the department of neurology with neurologic symptoms with confirmed COVID-19 and long COVID-19 from June 2020 to January 2021. Data on clinical signs, diagnosis, laboratory findings were collected and analyzed from the records for positive patients and compared with neurologic patients without COVID-19 admitted in the same period. Statistical analysis: The mean values between study groups were compared using an independent sample t-test and Mann Whitney u test. Categorical outcomes were compared using the Chi square test. Data was analyzed using coGuide software. Results. Headache was the common neurologic manifestation present in COVID positive patients compared to COVID negative patients (39.13%). There was no statistically significant difference between the two groups in baseline parameters. Laboratory parameters like CRP, Serum Ferritin, LDH, D-dimer, ESR, and IL-6 showed a significant increase in COVID positive patients (P <0.05). In-hospital mortality was more in COVID positive patients than COVID negative patients (P <0.011). Conclusion. The study showed varied neurologic symptoms in COVID patients, with headache as the common symptom. Hospital stay, morbidity, mortality, and inflammatory parameters were more in COVID positive patients compared to COVID negative patients.
{"title":"Spectrum of neurological manifestations among acute COVID-19 and long COVID-19 – A retrospective observational study","authors":"Pooja Dugani, A. Mehta, S. Furtado, R. Pradeep, M. Javali, P. Acharya, V. Thyagaraj, R. Srinivasa","doi":"10.37897/RJN.2022.2.14","DOIUrl":"https://doi.org/10.37897/RJN.2022.2.14","url":null,"abstract":"Objective. Preliminary clinical data indicate that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is associated with neurological symptoms. To compare the clinical features, imaging and treatments in patients with and without COVID-19. To compare the mortality and in-hospital stay among patients with and without COVID-19 and negative patients. Materials and methods. In this retrospective, single-center study, we included all the patients who attended the department of neurology with neurologic symptoms with confirmed COVID-19 and long COVID-19 from June 2020 to January 2021. Data on clinical signs, diagnosis, laboratory findings were collected and analyzed from the records for positive patients and compared with neurologic patients without COVID-19 admitted in the same period. Statistical analysis: The mean values between study groups were compared using an independent sample t-test and Mann Whitney u test. Categorical outcomes were compared using the Chi square test. Data was analyzed using coGuide software. Results. Headache was the common neurologic manifestation present in COVID positive patients compared to COVID negative patients (39.13%). There was no statistically significant difference between the two groups in baseline parameters. Laboratory parameters like CRP, Serum Ferritin, LDH, D-dimer, ESR, and IL-6 showed a significant increase in COVID positive patients (P <0.05). In-hospital mortality was more in COVID positive patients than COVID negative patients (P <0.011). Conclusion. The study showed varied neurologic symptoms in COVID patients, with headache as the common symptom. Hospital stay, morbidity, mortality, and inflammatory parameters were more in COVID positive patients compared to COVID negative patients.","PeriodicalId":37662,"journal":{"name":"Romanian Journal of Neurology/ Revista Romana de Neurologie","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48449139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：