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A case of isolated dystextia due to subcortical infarction: a novel condition of digital device era. 一例皮层下梗塞导致的孤立性肌张力障碍:数字设备时代的新病症。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2024-10-05 DOI: 10.1186/s12883-024-03892-w
Masahiro Hatakeyama, Takeshi Kanayama, Saori Tokunaga, Toshiya Kizaki, Shintaro Tsuboguchi, Masato Kanazawa, Osamu Onodera
{"title":"A case of isolated dystextia due to subcortical infarction: a novel condition of digital device era.","authors":"Masahiro Hatakeyama, Takeshi Kanayama, Saori Tokunaga, Toshiya Kizaki, Shintaro Tsuboguchi, Masato Kanazawa, Osamu Onodera","doi":"10.1186/s12883-024-03892-w","DOIUrl":"10.1186/s12883-024-03892-w","url":null,"abstract":"<p><strong>Background: </strong>In recent years, cases of dystextia (texting disabilities) and dystypia (typing disabilities) have been reported. However, reports describing isolated dystextia without aphasia or other cognitive impairments are rare, and the detailed pathophysiology is not fully understood. Most Japanese people use the alphabetical spelling system (Romaji) for texting and typing. Herein, we report the case of a man with isolated dystextia and dystypia resulting from Romaji conversion difficulties.</p><p><strong>Case presentation: </strong>A 48-year-old, right-handed Japanese man developed texting and typing difficulties. The standard neuropsychological tests showed no signs of aphasia or other cognitive impairments, except for slight executive dysfunction. Thus, isolated dystextia and dystypia were diagnosed. Furthermore, the patient experienced Romaji conversion difficulties. Magnetic resonance imaging revealed a subcortical infarction in the left cerebral hemisphere. Single photon emission tomography revealed hypoperfusion, including in the left dorsolateral frontal cortex.</p><p><strong>Conclusions: </strong>The left dorsolateral frontal cortex may be related to Romaji conversion in Japanese individuals. Therefore, diaschisis of the left dorsolateral frontal cortex due to subcortical lesions may have impaired Romaji conversion, leading to dystextia and dystypia, in this patient.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"374"},"PeriodicalIF":2.2,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452988/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142379101","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}
引用次数: 0
Determinants of low satisfaction with life among wheelchair users with spinal cord injury in Egypt: a cross-sectional study. 埃及脊髓损伤轮椅使用者生活满意度低的决定因素:一项横断面研究。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2024-10-05 DOI: 10.1186/s12883-024-03836-4
Sarah Abdelaaty Ayed, Safaa M El-Zoghby, Maha Emad Ibrahim, Wael Ahmed Zeid, Hebatallah Nour-Eldein
{"title":"Determinants of low satisfaction with life among wheelchair users with spinal cord injury in Egypt: a cross-sectional study.","authors":"Sarah Abdelaaty Ayed, Safaa M El-Zoghby, Maha Emad Ibrahim, Wael Ahmed Zeid, Hebatallah Nour-Eldein","doi":"10.1186/s12883-024-03836-4","DOIUrl":"10.1186/s12883-024-03836-4","url":null,"abstract":"<p><strong>Background: </strong>Spinal cord injury (SCI) is one of the most catastrophic injuries that might lead to permanent use of a wheelchair and severely affects the quality of life, hence SCI patients report lower satisfaction with life (SWL) than the general population. Therefore, it is important to identify factors that determine SWL among wheelchair users with SCI. Our study aimed to assess the prevalence of low SWL and to identify its determinants among wheelchair users with SCI in Egypt.</p><p><strong>Methods: </strong>A cross-sectional study included 105 wheelchair users with SCI from the Al Hassan Foundation for wheelchair users in Egypt. The main outcome measure was low SWL, while the independent variables included sociodemographic characteristics, injury-related characteristics, anxiety, depression, neuropathic pain, functional independence, and environmental barriers.</p><p><strong>Results: </strong>The prevalence of low SWL among study participants was 57.1%. We found significant associations between SWL and age, area of living, and age at injury. Additionally, SWL correlated negatively with anxiety, depression, neuropathic pain, and environmental barriers, and positively with functional independence. Finally, the binary multiple logistic regression revealed that living in Upper Egypt (p = 0.017, OR = 13.7), depression (p = 0.034, OR = 6.08), older age (p = 0.002, OR = 1.21), and work and school environmental barriers (p = 0.022, OR = 0.46) were the predictors of low SWL.</p><p><strong>Conclusion: </strong>To improve the SWL for wheelchair users with SCI we need to effectively manage neuropathic pain, depression, and anxiety, and promote functional independence. There is an urgent need to reinforce legislation to improve the living conditions for wheelchair users with SCI in Egypt, especially in Upper Egypt.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"373"},"PeriodicalIF":2.2,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452966/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142379102","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}
引用次数: 0
Infectious endocarditis complicated with intracranial infected aneurysm rupture and sinus of valsalva aneurysm rupture. 感染性心内膜炎并发颅内感染性动脉瘤破裂和瓦尔萨尔瓦窦动脉瘤破裂。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2024-10-04 DOI: 10.1186/s12883-024-03870-2
Zhaoqi Sun, Xiaoyu Xu, Zhihua Liu
{"title":"Infectious endocarditis complicated with intracranial infected aneurysm rupture and sinus of valsalva aneurysm rupture.","authors":"Zhaoqi Sun, Xiaoyu Xu, Zhihua Liu","doi":"10.1186/s12883-024-03870-2","DOIUrl":"10.1186/s12883-024-03870-2","url":null,"abstract":"<p><strong>Background: </strong>Infectious endocarditis (IE) is an infectious disease caused by direct invasion of the heart valve, endocardium, or adjacent large artery endocardium by pathogenic microorganisms. Despite its relatively low incidence, it has a poor prognosis and a high mortality. Intracranial infectious aneurysms (IIA) and ruptured sinus of Valsalva aneurysm (RSVA) are rare complications of IE.</p><p><strong>Case presentation: </strong>We report a young male patient with symptoms of respiratory tract infection, heart murmurs and other symptoms and signs. The patient also had kidney function impairment and poor response to symptomatic therapy. Blood culture was negative, but echocardiography was positive, which met the diagnostic criteria for infective endocarditis. Moreover, an echocardiography showed a ruptured sinus of Valsalva aneurysm with a ventricular septal defect. Finally, secondary rupture of an IIA with multiple organ damage led to a poor clinical outcome.</p><p><strong>Conclusion: </strong>Therefore, in the clinical setting, for young patients with unexplained fever, chest pain, or palpitations, we need to be highly vigilant, considering the possibility of infective endocarditis and promptly performing blood culture, echocardiography, cerebrovascular imaging and so on, in order to facilitate early proper diagnosis and treatment.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"372"},"PeriodicalIF":2.2,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11451171/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142375158","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}
引用次数: 0
Association of triglyceride glucose index with clinical outcomes in ischemic stroke: a retrospective study. 甘油三酯血糖指数与缺血性中风临床预后的关系:一项回顾性研究。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2024-10-04 DOI: 10.1186/s12883-024-03873-z
Sarad Pawar Naik Bukke, Bharghava Bhushan Rao Pathange, Kanaka Durga Devi Nelluri, Tadele Mekuriya Yadesa, Sahithi Kamepalli, Karukuri Suvarna, Dokku Srinija, Jalibili Vinathi, Sai Prakash Revanth, Yaswanth Sai Harsha
{"title":"Association of triglyceride glucose index with clinical outcomes in ischemic stroke: a retrospective study.","authors":"Sarad Pawar Naik Bukke, Bharghava Bhushan Rao Pathange, Kanaka Durga Devi Nelluri, Tadele Mekuriya Yadesa, Sahithi Kamepalli, Karukuri Suvarna, Dokku Srinija, Jalibili Vinathi, Sai Prakash Revanth, Yaswanth Sai Harsha","doi":"10.1186/s12883-024-03873-z","DOIUrl":"10.1186/s12883-024-03873-z","url":null,"abstract":"<p><strong>Background: </strong>Stroke is a major cause of illness, death, and long-term disability and a major health concern worldwide. Experts consider insulin resistance (IR), a defining feature of the metabolic syndrome and a significant risk factor for stroke. Insulin resistance, or IR, is common among stroke patients. The triglyceride-glucose (TYG) index's relevance to both lipotoxicity and glucotoxicity has led to its proposal as an alternative indicator of IR.</p><p><strong>Aim: </strong>Examining the connection between elevated TYG INDEX scores and worse clinical outcomes in ischemic stroke patients is the main goal. Finding out how often bad outcomes (recurrence and all-cause death) are in ischemic stroke patients is the secondary goal.</p><p><strong>Method: </strong>This was a retrospective observational study that involved patients admitted to the 850-bed Dr. Pinnamaneni Siddhartha Institute of Medical Sciences and Research Foundation, a tertiary care teaching hospital located in the Krishna district of Andhra Pradesh (India). The study was conducted over a period of six months. All the 95 patients who satisfied the eligibility criteria were included. The patients' TYG INDEX values were first determined and patients with ischemic stroke who had elevated TYG INDEX values were then compared for clinical outcomes including recurrence and all-cause death with ischemic patients with normal TYG INDEX.</p><p><strong>Results: </strong>In this study, the total cholesterol of the patients (mean ± SD) was 165.01 ± 51.5 mg/dL; Triglycerides was 157.031 ± 98.9 mg/dL; HDL-c was 37.253 ± 5.52 mg/dl; LDL-c was 107 ± 48.3 mg/Dl; and FBS was 153.74 ± 71.52 mg/dL. The chi-square test showed that only FBS, Triglyceride, and Total cholesterol were significantly associated with TYG INDEX whereas other variables like age, LDL, and HDL were not. There was no significant association between the TYG INDEX and clinical outcomes of ischemic stroke. In both groups of patients, risk and no risk TYG INDEX values, the mRS score showed variable and unpredictable relationship with the TYG INDEX.</p><p><strong>Conclusion: </strong>Contrary to the few studies that discovered one, our research leads us to the conclusion that there may not be a relevant association between the TYG INDEX and clinical results in patients with ischemic stroke.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"371"},"PeriodicalIF":2.2,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11451211/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142375157","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}
引用次数: 0
Time to death and its predictors among traumatic brain injury patients admitted to East Amhara comprehensive specialized hospitals, Ethiopia: retrospective cohort study. 埃塞俄比亚东阿姆哈拉综合专科医院收治的脑外伤患者的死亡时间及其预测因素:回顾性队列研究。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2024-10-04 DOI: 10.1186/s12883-024-03886-8
Abdurehman Ayele, Samuel Anteneh, Fatuma Seid Degu, Getenet Dessie, Arega Abebe Lonsako, Alemayehu Anley, Gizew Beyene
{"title":"Time to death and its predictors among traumatic brain injury patients admitted to East Amhara comprehensive specialized hospitals, Ethiopia: retrospective cohort study.","authors":"Abdurehman Ayele, Samuel Anteneh, Fatuma Seid Degu, Getenet Dessie, Arega Abebe Lonsako, Alemayehu Anley, Gizew Beyene","doi":"10.1186/s12883-024-03886-8","DOIUrl":"10.1186/s12883-024-03886-8","url":null,"abstract":"<p><strong>Background: </strong>Globally, 64-74 million individuals around the world are estimated to sustain traumatic brain injury every year. Moderate and severe traumatic brain injury can lead to a lifetime physical, cognitive, emotional, and behavioral changes. There were limited studies conducted in Ethiopia regarding to traumatic brain injury mortality.</p><p><strong>Methods: </strong>An institutional based retrospective cohort study was conducted on 429 randomly selected traumatic brain injury patients aged 18 to 64 years who were admitted to East Amhara Comprehensive Specialized Hospitals from January 1, 2016 to December 31, 2021. Kobo toolbox was applied for data collection and exported to Stata version 17 for data processing and analysis. To estimate death free time, a Kaplan Meier failure curve was used. The Cox proportional hazards regression model was used at the 5% level of significance to determine effect of predictor variables on time to death.</p><p><strong>Result: </strong>A total of 429 traumatic brain injury patients aged 18 to 64 years were included with response rate of 91.3% and 145(33.8%) were dead. Open injuries (AHR = 0.25; 95% CI: 0.18-0.36), co-existing injuries (AHR = 0.40; 95% CI: 0.24-0.66), ICU admission (AHR = 0.42; 95% CI: 0.29-0.60), arrival within 4-24 h (AHR = 3.48; 95% CI: 2.01-6.03), arrival after 24 h (AHR = 6.69; 95% CI: 3.49-12.28), subdural hematoma (AHR = 2.72; 95% CI: 1.77-4.19), serum albumin < 3.5 g/dL (AHR = 0.66; 95% CI: 0.49-0.94), moderate (AHR = 0.56; 95% CI: 0.21-0.89), and mild traumatic brain injury (AHR = 0.43; 95% CI: 0.29-0.56) were predictors of traumatic brain injury mortality.</p><p><strong>Conclusion: </strong>The finding of this study showed that the mortality was 1/3rd of the total patients. Open injuries, co-existing injuries, ICU admission, arrival time (4-24 h and > 24 h), subdural hematoma, serum albumin < 3.5 g/dL and severity of traumatic brain injury (mild and moderate) were predictors of traumatic brain mortality. Therefore, working on these factors to reduce the morality of traumatic brain injury patients is very important.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"370"},"PeriodicalIF":2.2,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11451167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142375159","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}
引用次数: 0
Neuroimaging feature in identifying acute myelopathy etiologies: comparison between neuromyelitis optica spectrum disorder and cervical spondylotic myelopathy. 识别急性脊髓病病因的神经影像学特征:神经脊髓炎视谱系障碍与颈椎病性脊髓病的比较。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2024-10-02 DOI: 10.1186/s12883-024-03884-w
Weigang Luo, Wei Bu, Ruochen Shao, Shuxian Cheng, Jiran Liu, Yating Sun, Xiaohui Li, Huiling Ren
{"title":"Neuroimaging feature in identifying acute myelopathy etiologies: comparison between neuromyelitis optica spectrum disorder and cervical spondylotic myelopathy.","authors":"Weigang Luo, Wei Bu, Ruochen Shao, Shuxian Cheng, Jiran Liu, Yating Sun, Xiaohui Li, Huiling Ren","doi":"10.1186/s12883-024-03884-w","DOIUrl":"10.1186/s12883-024-03884-w","url":null,"abstract":"<p><strong>Objective: </strong>The clinical symptoms of neuromyelitis optica spectrum disorder (NMOSD) and acute cervical spondylotic myelopathy (CSM) may overlap in some cases. This study aimed to investigate the differences in imaging features between NMOSD and CSM in acute myelopathy.</p><p><strong>Methods: </strong>We included 78 patients in this retrospective study, including 28 NMOSD patients and 50 CSM patients. The demographic characteristics and clinical symptoms of the two groups of patients were compared. The T1 signal intensity, length of the spinal cord involved by T2 hyperintensity, degree of intervertebral disc degeneration, proportion of thoracic and lumbar cord involvement, proportion of brain involvement and lesion enhancement rate in magnetic resonance imaging (MRI) were compared between the two groups of patients. The number, length, location on the sagittal image, pattern on the sagittal image, and distribution on the axial image of the lesions in the contrast-enhanced MRI of the two groups were evaluated.</p><p><strong>Results: </strong>There were differences between NMOSD and CSM patients in the proportion of women, the proportion of bowel and bladder symptoms, mRS levels, the length of the spinal cord involved by T2 hyperintensity, degree of intervertebral disc degeneration, the proportion of thoracic and lumbar cord involvement, the proportion of brain involvement, the enhancement rate and number of lesions (p < 0.05). Among NMOSD patients, linear, patchy and ring or semi-ring enhancement were present in 8(30.8%) ,14 (53.8%) and 4(15.4%)patients, respectively, and axial gray and white matter were involved in 17 (65.4%) patients. Among patients with CSM, 9(36.0%) patients showed longitudinal oriented flake, 16 (64.0%) patients showed pancake-like enhancement, and 21 (84.0%) patients showed axial white matter involvement only. The differences in enhancement pattern on sagittal images and axial involvement were statistically significant (p < 0.05).</p><p><strong>Conclusions: </strong>Early differential diagnosis of NMOSD and CSM in acute myelopathy can be made by analyzing images and the number, length, sagittal enhancement pattern, and axial involvement of gadolinium-enhanced lesions.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"369"},"PeriodicalIF":2.2,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11445943/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364383","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}
引用次数: 0
Stereotactic radiosurgery alone for brain arteriovenous malformations: a single-institute experience. 单纯立体定向放射外科治疗脑动静脉畸形:一家研究所的经验。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2024-09-30 DOI: 10.1186/s12883-024-03876-w
Zhao-Ying Zhu, Wei Zhang, Shi-Hong Zhu, Gui-Jun Zhang, Jing Chen
{"title":"Stereotactic radiosurgery alone for brain arteriovenous malformations: a single-institute experience.","authors":"Zhao-Ying Zhu, Wei Zhang, Shi-Hong Zhu, Gui-Jun Zhang, Jing Chen","doi":"10.1186/s12883-024-03876-w","DOIUrl":"10.1186/s12883-024-03876-w","url":null,"abstract":"<p><strong>Objective: </strong>Brain arteriovenous malformations (BAVMs) represent an ongoing clinical challenge because of their complex nature. The long-term outcomes of BAVMs patients treated with stereotactic radiosurgery (SRS) alone are unclear.</p><p><strong>Methods: </strong>We conducted a retrospective analysis of 201 patients treated for BAVMs from January 2010 to December 2019. The identified predictors of obliteration or hemorrhage in the multivariate analysis were estimated by odds ratios (ORs) with 95% confidence intervals (CIs).</p><p><strong>Results: </strong>A total of 201 patients treated with gamma knife radiosurgery (GKRS) alone as the primary treatment for BAVMs were included. The mean age at GKRS treatment was 31.4 ± 1.1 years, and 61.2% of the patients were male. Multivariate logistic regression revealed that a higher radiosurgery-based AVM score (OR 1.847, 95% CI = 1.292-2.641; p = 0.001) was significantly associated with worse obliteration, and a higher margin dose significantly favored obliteration (OR 0.352, 95% CI = 0.189-0.658; p = 0.001). Multivariate analysis revealed that an increased lesion volume of 1 cm<sup>3</sup> (OR 1.279, 95% CI = 1.023-1.600; p = 0.031) and a high margin dose (OR 0.363, 95% CI = 0.134-0.983; p = 0.046) were significant prognostic factors for post-SRS hemorrhage.</p><p><strong>Conclusions: </strong>In conclusion, our study investigated the available clinical and radiological prognostic factors for BAVMs and revealed that a higher margin dose significantly improved both the obliteration rate and nonhemorrhagic outcomes. Currently, the most appropriate candidates, Spetzler-Martin grade, and optimal radiation dose are still being defined by prospective trials.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"368"},"PeriodicalIF":2.2,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11440702/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142341788","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}
引用次数: 0
A novel pathogenic variant in the KCTD7 gene in a patient with neuronal ceroid lipofuscinosis (CLN14): a case report and review of the literature. 一名神经细胞类脂膜炎(CLN14)患者的 KCTD7 基因新型致病变体:病例报告和文献综述。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2024-09-30 DOI: 10.1186/s12883-024-03868-w
Safaa Zeineddin, Ghadeer Matar, Yasmin Abosaif, Mohammed Abunada, Belal Aldabbour
{"title":"A novel pathogenic variant in the KCTD7 gene in a patient with neuronal ceroid lipofuscinosis (CLN14): a case report and review of the literature.","authors":"Safaa Zeineddin, Ghadeer Matar, Yasmin Abosaif, Mohammed Abunada, Belal Aldabbour","doi":"10.1186/s12883-024-03868-w","DOIUrl":"10.1186/s12883-024-03868-w","url":null,"abstract":"<p><strong>Background: </strong>Neuronal ceroid lipofuscinosis (NCL) is a heterogeneous group of 13 rare, progressive neurodegenerative diseases of the brain and retina. CLN14 is a very rare subtype of NCL caused by pathogenic variants in the KCTD7 gene. Only four cases of this subtype have been reported in the literature.</p><p><strong>Case presentation: </strong>A nine-month-old, previously healthy male who was firstborn to first-cousin parents presented with progressive psychomotor regression, dysmorphic facial features, myoclonus, and vision loss. Neurological examination showed generalized hypotonia and brisk reflexes. He continued to deteriorate until age 18 months, when he developed his first generalized tonic-clonic seizure. An ophthalmological examination showed a hypopigmented fundus and slight temporal disc pallor. Brain MRI showed mild generalized brain atrophy and white matter disease. EEG revealed a severely abnormal trace marked by generalized, high amplitude, sharply contoured, polymorphic delta slowing intermixed with theta slowing and some alpha activity, with disorganized and scattered spikes and sharp waves. The patient continued to have uncontrolled seizures and further psychomotor regression until he died of status epilepticus and pneumonia at the age of 44 months. WES identified a novel homozygous variant c.413T > C, p.(Leu138Pro) in the KCTD7 gene, causing an amino acid transition from leucine to proline at position 138. Both parents were carriers of the same variant.</p><p><strong>Conclusions: </strong>We present the fifth known case of CLN14 in the literature and report the clinical course and a novel underlying likely causative variant in the KCTD7 gene. The improving accessibility and affordability of genetic testing will likely uncover more NCL cases and further expand the disease's genotypic and phenotypic spectrum.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"367"},"PeriodicalIF":2.2,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11441090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142341721","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}
引用次数: 0
Exploring clinical markers of Axon degeneration processes in Chemotherapy-induced peripheral neuropathy among young adults receiving vincristine or paclitaxel. 探索接受长春新碱或紫杉醇化疗的年轻成人周围神经病变中轴突变性过程的临床标记。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2024-09-28 DOI: 10.1186/s12883-024-03877-9
Robert Knoerl, Emanuele Mazzola, Maria Pazyra-Murphy, Birgitta Ryback, A Lindsay Frazier, Roy L Freeman, Marilyn Hammer, Ann LaCasce, Jennifer Ligibel, Marlise R Luskin, Donna L Berry, Rosalind A Segal
{"title":"Exploring clinical markers of Axon degeneration processes in Chemotherapy-induced peripheral neuropathy among young adults receiving vincristine or paclitaxel.","authors":"Robert Knoerl, Emanuele Mazzola, Maria Pazyra-Murphy, Birgitta Ryback, A Lindsay Frazier, Roy L Freeman, Marilyn Hammer, Ann LaCasce, Jennifer Ligibel, Marlise R Luskin, Donna L Berry, Rosalind A Segal","doi":"10.1186/s12883-024-03877-9","DOIUrl":"https://doi.org/10.1186/s12883-024-03877-9","url":null,"abstract":"<p><strong>Background: </strong>Approximately 70% of patients receiving neurotoxic chemotherapy (e.g., paclitaxel or vincristine) will develop chemotherapy-induced peripheral neuropathy. Despite the known negative effects of CIPN on physical functioning and chemotherapy dosing, little is known about how to prevent CIPN. The development of efficacious CIPN prevention interventions is hindered by the lack of knowledge surrounding CIPN mechanisms. Nicotinamide adenine dinucleotide (NAD<sup>+</sup>) and cyclic-adenosine diphosphate ribose (cADPR) are potential markers of axon degeneration following neurotoxic chemotherapy, however, such markers have been exclusively measured in preclinical models of chemotherapy-induced peripheral neuropathy (CIPN). The overall objective of this longitudinal, observational study was to determine the association between plasma NAD<sup>+</sup>, cADPR, and ADPR with CIPN severity in young adults receiving vincristine or paclitaxel.</p><p><strong>Methods: </strong>Young adults (18-39 years old) beginning vincristine or paclitaxel were recruited from Dana-Farber Cancer Institute. Young adults completed the QLQ-CIPN20 sensory and motor subscales and provided a blood sample prior to starting chemotherapy (T1) and at increasing cumulative vincristine (T2: 3-5 mg, T3: 7-9 mg) and paclitaxel (T2: 300-500 mg/m<sup>2</sup>, T3: 700-900 mg/m<sup>2</sup>) dosages. NAD<sup>+</sup>, cADPR, and ADPR were quantified from plasma using mass spectrometry. Metabolite levels and QLQ-CIPN20 scores over time were compared using mixed-effects linear regression models and/or paired two-sample tests.</p><p><strong>Results: </strong>Participants (N = 50) were mainly female (88%), white (80%), and receiving paclitaxel (78%). Sensory and motor CIPN severity increased from T1-T3 (p < 0.001). NAD<sup>+</sup> (p = 0.28), cADPR (p = 0.62), and ADPR (p = 0.005) values decreased, while cADPR/NAD<sup>+</sup> ratio increased from T1-T3 (p = 0.50). There were no statistically significant associations between NAD + and QLQ-CIPN20 scores over time.</p><p><strong>Conclusions: </strong>To our knowledge, this is the first study to measure plasma NAD<sup>+</sup>, cADPR, and ADPR among patients receiving neurotoxic chemotherapy. Although, no meaningful changes in NAD<sup>+</sup>, cADPR, or cADPR/NAD<sup>+</sup> were observed among young adults receiving paclitaxel or vincristine. Future research in an adequately powered sample is needed to explore the clinical utility of biomarkers of axon degeneration among patients receiving neurotoxic chemotherapy to guide mechanistic research and novel CIPN treatments.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"366"},"PeriodicalIF":2.2,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11438373/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142341786","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}
引用次数: 0
Prevalence and associated factors of post-stroke depression in Africa: a systematic review and meta-analysis. 非洲卒中后抑郁症的患病率和相关因素:系统回顾和荟萃分析。
IF 2.2 3区 医学
BMC Neurology Pub Date : 2024-09-28 DOI: 10.1186/s12883-024-03867-x
Bekalu Getachew, Abay Mulu
{"title":"Prevalence and associated factors of post-stroke depression in Africa: a systematic review and meta-analysis.","authors":"Bekalu Getachew, Abay Mulu","doi":"10.1186/s12883-024-03867-x","DOIUrl":"10.1186/s12883-024-03867-x","url":null,"abstract":"<p><strong>Background: </strong>Depressive disorder is considered the most frequent and burdensome mental health complication after stroke. Post-stroke depression is under-recognized in Africa and data remain scarce. These systematic reviews and meta-analyses were, therefore conducted to fill the gap.</p><p><strong>Methods: </strong>An inclusive review of both published and unpublished articles was conducted. An initial search was conducted in PubMed, African Journal Online, EMBASE, SCOPUS and Google Scholar. Data were extracted using an Excel data format and the analysis was done using STATA version 14 statistical software. The heterogeneity of studies was determined using the Cochrane Q test statistic and I2 test statistics with forest plots. A random effects model was used to examine the pooled prevalence of post-stroke depression and subgroup analysis was conducted for those having significant heterogeneity. Sensitivity analysis and publication bias were also assessed. Pooled odds ratios (ORs) with a 95% confidence interval (CI) were calculated. Results were presented in narratives, tables and forest plots.</p><p><strong>Result: </strong>A total of 25 Articles with 3098 stroke patients from African countries were included to pool the prevalence of post-stroke depression in the meta-analysis. The pooled prevalence of post-stroke depression in Africa at any time was 38.35% [95% CI, 34.07-42.63%]. The pooled estimate for post-stroke depression using clinical diagnostic tools was [38.53%, 95%CI: 34.07-42.63] and (36.81% [32.09-41.52%]) by rating scale. Subgroup analysis by region showed that Central Africa [50.92%, 95% CI: 45.94-55.90] had the highest pooled estimate of depression among stroke survivors with high heterogeneity (92.5%). Female gender, cognitive dysfunction and younger age were found associated in the primary studies but their pooled Odds ratio and overall effect were not significant in the meta-analysis. The pooled estimate of the Odds ratio of physical disability in Africa was 2.02[95% CI, 1.04-3.94] with no heterogeneity but the overall effect was significant (p = 0.038).</p><p><strong>Conclusion: </strong>Post-stroke depression was relatively higher in Africa. Central Africa had the highest burden of post-stroke depression followed by West Africa. Physical disability was significantly associated with post-stroke depression in the current meta-analysis.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"360"},"PeriodicalIF":2.2,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11438399/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142341787","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}
引用次数: 0
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