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Weight loss remains a challenge for idiopathic intracranial hypertension patients: A retrospective case series from Kenya 减肥仍然是特发性颅内高压患者的一个挑战:来自肯尼亚的回顾性病例系列
eNeurologicalSci Pub Date : 2025-10-06 DOI: 10.1016/j.ensci.2025.100592
Zian Muikamba , Jaskirat Sokhi , Jasmit Shah , Sheila Marco , Juzar Hooker , Dilraj Sokhi
{"title":"Weight loss remains a challenge for idiopathic intracranial hypertension patients: A retrospective case series from Kenya","authors":"Zian Muikamba ,&nbsp;Jaskirat Sokhi ,&nbsp;Jasmit Shah ,&nbsp;Sheila Marco ,&nbsp;Juzar Hooker ,&nbsp;Dilraj Sokhi","doi":"10.1016/j.ensci.2025.100592","DOIUrl":"10.1016/j.ensci.2025.100592","url":null,"abstract":"<div><h3>Background</h3><div>Idiopathic intracranial hypertension (IIH) is a neurological condition characterized by elevated intracranial CSF pressure without demonstratable evident causes. The mechanisms leading to a particular predilection for women of childbearing age who are overweight and obese or who have recent rapid weight changes remain imprecisely described. If undiagnosed, it can progress to disabling irreversible visual loss. Weight loss is useful in addition to medical therapy in treating the condition. There is a rise of obesity in sub-Saharan Africa (SSA) but there is little published on IIH.</div></div><div><h3>Methods</h3><div>We conducted a retrospective cross-sectional study at our tertiary regional referral neurology centre in Nairobi, Kenya. Data were extracted from medical files of patients meeting the diagnostic criteria for IIH aged &gt;18 years who were diagnosed or managed at AKUHN from January 2011 to December 2022.</div></div><div><h3>Results</h3><div>We identified 152 patients: female-to-male ratio was 9:1, mean age 34.2 years. Mean body mass index (BMI) was 31.2 kgs/m2. Almost a third (32.2 %) had compromised vision at presentation in at least one eye. None had other medical comorbidities to precipitate IIH. H2O. 80.2 % had brain MRI, of which 78.4 % had ancillary IIH findings on imaging. Median cerebrospinal fluid opening pressure was 31 cm. Treatment was acetazolamide alone in 44 %, topiramate alone in 15 %, and combined in 30 %. 9.8 % were referred for neurosurgical evaluation, mainly due to refractory symptoms or intolerance/contraindications to medical therapy. Only 49.3 % had symptom improvement at one year. 52.6 % did not have a formal documented weight loss plan. Mean BMI at one year was 30.9 kg/m<sup>2</sup>.</div></div><div><h3>Conclusion</h3><div>Our study describes the first cohort of IIH patients from the East Africa region. Demographics are concordant with those reported internationally. However, our patients failed to lose weight, and emphasizes the need to formally incorporate weight loss plans (diet and exercise) in IIH care.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"41 ","pages":"Article 100592"},"PeriodicalIF":0.0,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145268219","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}
引用次数: 0
Spectacular shrinking deficit followed by delayed Hemichorea-Hemiballismus: Redefining the stroke-TIA spectrum 延迟性偏瘫-半偏瘫:重新定义卒中- tia频谱
eNeurologicalSci Pub Date : 2025-10-06 DOI: 10.1016/j.ensci.2025.100589
Moustafa A. Mansour , Mohamed Abdel-Fattah El-Salamoni , Hamdi Nabawi Mostafa
{"title":"Spectacular shrinking deficit followed by delayed Hemichorea-Hemiballismus: Redefining the stroke-TIA spectrum","authors":"Moustafa A. Mansour ,&nbsp;Mohamed Abdel-Fattah El-Salamoni ,&nbsp;Hamdi Nabawi Mostafa","doi":"10.1016/j.ensci.2025.100589","DOIUrl":"10.1016/j.ensci.2025.100589","url":null,"abstract":"<div><div>Spectacular shrinking deficit (SSD) is an exceptionally rare cerebrovascular phenomenon defined by the rapid and near-complete resolution of severe neurological deficits following major hemispheric ischemia. We present the first documented case of SSD manifesting as hemichorea-hemiballismus syndrome—a striking and clinically distinct presentation that challenges current understanding of stroke sequelae. A 59-year-old diabetic female developed violent, involuntary left-sided movements one week after transient left hemiplegia, which resolved spontaneously. Neuroimaging revealed T1 hyperintensities in the right striatum without contrast enhancement, subtle diffusion abnormalities, and focal right MCA stenosis, while metabolic workup ruled out hyperglycemic chorea. The patient's refractory symptoms responded uniquely to tetrabenazine, further supporting an ischemic rather than metabolic etiology.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"41 ","pages":"Article 100589"},"PeriodicalIF":0.0,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145268218","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}
引用次数: 0
Meta meta-analysis of cardiovascular risk factors in Alzheimer's disease 阿尔茨海默病心血管危险因素的Meta - Meta分析
eNeurologicalSci Pub Date : 2025-10-04 DOI: 10.1016/j.ensci.2025.100590
Olalla Saiz-Vazquez , Silvia Ubillos-Landa , Alicia Puente-Martínez
{"title":"Meta meta-analysis of cardiovascular risk factors in Alzheimer's disease","authors":"Olalla Saiz-Vazquez ,&nbsp;Silvia Ubillos-Landa ,&nbsp;Alicia Puente-Martínez","doi":"10.1016/j.ensci.2025.100590","DOIUrl":"10.1016/j.ensci.2025.100590","url":null,"abstract":"<div><h3>Background</h3><div>Alzheimer's disease (AD) is the most common cause of dementia in the elderly. Identifying some of the cardiovascular risk factors for AD could be crucial for primary prevention and help reduce the incidence of AD. Objective: We aimed to perform a meta-meta-analysis of 3 studies to assess the effect of cholesterol, blood pressure and stroke on diagnosis of AD.</div></div><div><h3>Methods</h3><div>The search was restricted to meta-analyses in the last three years assessing cholesterol, blood pressure, stroke and Alzheimer's disease. We applied the PRISMA guidelines.</div></div><div><h3>Results</h3><div>The total effect of cholesterol on risk of AD was significant and heterogeneous. Subgroup analysis shows that LDL-C levels influence the development of AD. High SBP is associated with AD. The exploration of parameters (sex, age, study design, region, and BP measurements) shows that only region significantly moderates the relationship between BP and AD. Results report significant association between ischemic stroke (IS), hemorrhagic stroke (HS) and microinfarcts (MI) with the risk of AD.</div></div><div><h3>Conclusions</h3><div>These results strengthen the evidence that the risk factors related to cardiovascular diseases increase risk for AD. Moreover, moderator analysis supports the robustness of our results. Therefore, future studies should use other uncontrolled factors, such as diabetes, to explain the relationship between these variables.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"41 ","pages":"Article 100590"},"PeriodicalIF":0.0,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145268220","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}
引用次数: 0
Recreational nitrous oxide abuse and myeloneuropathy among Vietnamese youth: A descriptive study of 35 cases 娱乐性一氧化二氮滥用和脊髓神经病在越南青年:一个描述性研究35例
eNeurologicalSci Pub Date : 2025-09-13 DOI: 10.1016/j.ensci.2025.100588
Duc Nguyen Dang , Anh Lam Nguyen Hong , Bach Nguyen Dang
{"title":"Recreational nitrous oxide abuse and myeloneuropathy among Vietnamese youth: A descriptive study of 35 cases","authors":"Duc Nguyen Dang ,&nbsp;Anh Lam Nguyen Hong ,&nbsp;Bach Nguyen Dang","doi":"10.1016/j.ensci.2025.100588","DOIUrl":"10.1016/j.ensci.2025.100588","url":null,"abstract":"<div><h3>Background</h3><div>Nitrous oxide (N₂O) misuse has become increasingly prevalent among young adults in Vietnam, with growing reports of neurological complications.</div></div><div><h3>Methods</h3><div>We conducted a retrospective analysis of 35 patients with N₂O-induced neurotoxicity admitted to Bach Mai Hospital from 2022 to 2024.</div></div><div><h3>Results</h3><div>Patients were mostly female (65.7 %), median age 22, with students and office workers being the predominant occupations. Neurological symptoms included paresthesias (88.6 %), weakness (82.9 %), and unsteadiness (77.1 %). MRI revealed dorsal column lesions in 60 %. All patients received B12 therapy. Full recovery occurred in 91.4 %; 8.6 % had mild persistent symptoms.</div></div><div><h3>Conclusions</h3><div>N₂O misuse is an emerging threat in Vietnam. Despite favorable treatment outcomes, prevention through public education and policy is essential. Our findings contribute important local data to support future regulation and health promotion efforts.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"41 ","pages":"Article 100588"},"PeriodicalIF":0.0,"publicationDate":"2025-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145100051","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}
引用次数: 0
Prevalence and risk factors of pediatric seizures in COVID-19 infection: A study from Thailand COVID-19感染儿童癫痫发作的患病率和危险因素:来自泰国的一项研究
eNeurologicalSci Pub Date : 2025-09-01 DOI: 10.1016/j.ensci.2025.100586
Natnicha Praphaphanthasak, Vitchayaporn Emarach Saengow
{"title":"Prevalence and risk factors of pediatric seizures in COVID-19 infection: A study from Thailand","authors":"Natnicha Praphaphanthasak,&nbsp;Vitchayaporn Emarach Saengow","doi":"10.1016/j.ensci.2025.100586","DOIUrl":"10.1016/j.ensci.2025.100586","url":null,"abstract":"<div><h3>Introduction</h3><div>COVID-19 is an emerging disease primarily presenting with respiratory tract infections in children. Recent reports have highlighted neurological manifestations, including seizures. However, there is a lack of studies regarding the prevalence and risk factors for pediatric seizures associated with COVID-19 in Thailand.</div></div><div><h3>Methods</h3><div>This retrospective study involved pediatric patients aged 1 month to 15 years who had clinical seizures as a primary symptom alongside COVID-19 infection. Patients diagnosed with Multisystem Inflammatory Syndrome in Children (MIS-C) were excluded. The study was conducted at Maharat Nakhon Ratchasima Hospital from December 1, 2019, to December 30, 2022. Demographic data were recorded. The prevalence of seizures and associated risk factors were evaluated.</div></div><div><h3>Results</h3><div>A total of 963 pediatric patients were included in the study, with ages ranging from 1 month to 15 years. The mean age was 6.8 years (± 4.6 SD), with a male predominance (53.2 % male, 46.8 % female). Among these, 40 cases presented with clinical seizures, resulting in a seizure prevalence of 0.76. In the seizure group, ages ranged from 8 months to 14 years, with a mean age of 3.67 years (± 3.45 SD). This group also exhibited male predominance. Notably, 0.76 % of the patients were under the age of 5 years, and the majority (95 %) experienced febrile seizures associated with the Omicron variant. The identified risk factors for seizures included younger age (less than 5 years) and the severity of COVID-19 infection. A 2-year follow-up review indicated favorable neurodevelopmental outcomes.</div></div><div><h3>Conclusion</h3><div>The prevalence of seizures in pediatric patients with COVID-19 varied according to the viral variant, with the Omicron variant being associated with a surge in febrile seizures. Younger age and the severity of COVID-19 were found to increase the risk of seizure occurrence.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"41 ","pages":"Article 100586"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145118941","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}
引用次数: 0
Efficacy and safety of intravenous Levetiracetam as first-line treatment for neonatal clinical seizures: A single-center study (2021−2023) 左乙拉西坦静脉注射一线治疗新生儿临床癫痫发作的疗效和安全性:一项单中心研究(2021 - 2023)
eNeurologicalSci Pub Date : 2025-08-29 DOI: 10.1016/j.ensci.2025.100583
Mojtaba Movahedinia , Seyed Reza Mirjalili , Narges Abedi Ardekani , Farimah Shamsi
{"title":"Efficacy and safety of intravenous Levetiracetam as first-line treatment for neonatal clinical seizures: A single-center study (2021−2023)","authors":"Mojtaba Movahedinia ,&nbsp;Seyed Reza Mirjalili ,&nbsp;Narges Abedi Ardekani ,&nbsp;Farimah Shamsi","doi":"10.1016/j.ensci.2025.100583","DOIUrl":"10.1016/j.ensci.2025.100583","url":null,"abstract":"<div><h3>Background</h3><div>Neonatal seizures demand urgent treatment to mitigate neurodevelopmental risks. This study evaluates intravenous levetiracetam's efficacy and safety as first-line therapy for seizures in term neonates.</div></div><div><h3>Methods</h3><div>A retrospective analysis included term neonates with clinical seizures admitted to a NICU (2021–2023), excluding metabolic/other predefined etiologies. All received intravenous levetiracetam initially. Statistical analysis (SPSS v.19) used chi-square and paired <em>t</em>-tests.</div></div><div><h3>Results</h3><div>The study included 40 neonates, of whom 12 (30 %) were male and 28 (70 %) were female. Tonic seizures were the most frequent type (40 %), followed by myoclonic and mixed seizures (22.5 % each). Hypoxic-ischemic encephalopathy (HIE) was the predominant etiology, accounting for 50 % of cases. No significant association was found between seizure type and the number of doses required (<em>p</em> = 0.051) or seizure recurrence within 48 h (<em>p</em> = 0.485). Additionally, the number of doses administered did not significantly impact seizure recurrence after 48 h (<em>p</em> = 0.63).</div></div><div><h3>Conclusion</h3><div>Intravenous levetiracetam demonstrated efficacy in controlling neonatal seizures, with no reported drug-related adverse effects. More than 70 % of neonates required only a single dose, and nearly 85 % remained seizure-free within 48 h. While these findings suggest favorable outcomes with levetiracetam, larger, prospective studies are necessary to further substantiate its efficacy and safety profile in this population.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"41 ","pages":"Article 100583"},"PeriodicalIF":0.0,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027864","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}
引用次数: 0
A case report: The cerebral metabolic rate of oxygen evaluated by 15O positron emission tomography may predict the recovery of cortical deafness due to bilateral cerebral hemorrhage. 1例报告:15O正电子发射断层扫描评价脑氧代谢率可预测双侧脑出血所致皮质性耳聋的恢复。
eNeurologicalSci Pub Date : 2025-08-06 eCollection Date: 2025-09-01 DOI: 10.1016/j.ensci.2025.100582
Kosuke Sasaki, Yasuaki Kokubo, Shinji Sato, Kohei Igarashi, Hiroyuki Chiba, Tsukasa Ito, Yukihiko Sonoda
{"title":"A case report: The cerebral metabolic rate of oxygen evaluated by 15O positron emission tomography may predict the recovery of cortical deafness due to bilateral cerebral hemorrhage.","authors":"Kosuke Sasaki, Yasuaki Kokubo, Shinji Sato, Kohei Igarashi, Hiroyuki Chiba, Tsukasa Ito, Yukihiko Sonoda","doi":"10.1016/j.ensci.2025.100582","DOIUrl":"10.1016/j.ensci.2025.100582","url":null,"abstract":"<p><p>Cortical deafness is a rare central auditory disorder resulting in severe hearing loss. It is caused by bilateral damage to the auditory cortex, auditory radiation, or medial geniculate body. We herein report a case of cortical deafness recovery caused by left thalamic hemorrhage following right putaminal hemorrhage. The evaluation of the cerebral metabolic rate of oxygen (CMRO2) using 15O positron emission tomography (15O-PET) at the onset helped predict the functional outcomes. A CMRO2 evaluation using 15O-PET was valuable for predicting the outcome of cortical deafness. We should remain aware of the possibility of cortical deafness in stroke patients with bilateral temporal lobe lesions, basal ganglia lesions near auditory tracts, or brainstem lesions, including those with preexisting lesions.</p>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"40 ","pages":"100582"},"PeriodicalIF":0.0,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12355087/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144875647","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Neuroinfectious diseases profile in a specialist neurology centre in South Africa 南非某神经病学专科中心的神经传染病概况
eNeurologicalSci Pub Date : 2025-08-06 DOI: 10.1016/j.ensci.2025.100581
Katryn Oosthuizen , Suzaan Marais
{"title":"The Neuroinfectious diseases profile in a specialist neurology centre in South Africa","authors":"Katryn Oosthuizen ,&nbsp;Suzaan Marais","doi":"10.1016/j.ensci.2025.100581","DOIUrl":"10.1016/j.ensci.2025.100581","url":null,"abstract":"<div><h3>Objective</h3><div>This study aimed to assess the burden of neuroinfectious diseases and describe the causes and presentation of neurological infections to a tertiary level hospital neurology service in South Africa.</div></div><div><h3>Methods</h3><div>A retrospective electronic search of medical discharge records was conducted for adult patients admitted to the neurology ward over a two-year period, and patients with neuroinfectious diseases were identified. Diagnostic criteria were applied to classify patients according to the certainty of their neuroinfectious disease diagnosis.</div></div><div><h3>Results</h3><div>Neuroinfectious diseases accounted for 15 % of the 802 admissions to the neurology ward. The most common infectious aetiologies were tuberculosis (27 %), syphilis (21 %), neurological diseases related to human immunodeficiency virus (HIV) itself (19 %), and HIV-associated opportunistic infections (10 %). Diagnostic challenges were observed, with only 17 % of cases having a definite diagnosis. The majority of patients with neuroinfectious diseases were young, with a median age of 38 years (IQR: 32–46), and 56 % were HIV-positive. Morbidity was high, with prolonged hospitalisation (&gt;2 weeks) and limited full recovery at discharge in 56 % and 98 % of patients, respectively.</div></div><div><h3>Conclusions</h3><div>This study provides important insights into the burden and characteristics of neuroinfectious diseases encountered at an inpatient South African neurology service. The findings highlight the need for increased investment in primary care prevention and treatment of HIV, TB and syphilis − before patients require hospital admission or develop neurological pathology.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"40 ","pages":"Article 100581"},"PeriodicalIF":0.0,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144829737","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}
引用次数: 0
Acoustic signatures of bulbar ALS: Predictive modeling with sustained vowels and LightGBM 球茎ALS的声学特征:用持续元音和LightGBM进行预测建模
eNeurologicalSci Pub Date : 2025-07-30 DOI: 10.1016/j.ensci.2025.100579
Zahra Farrokhi , Seyed Amirali Zakavi , Arian Sarafraz , Maryam Valifard , Salar Yousefzadeh , Zahra Mashhadi Tafreshi , Omid Anbiyaee , Navid Rostami , Mahsa Asadi Anar , Niloofar Deravi
{"title":"Acoustic signatures of bulbar ALS: Predictive modeling with sustained vowels and LightGBM","authors":"Zahra Farrokhi ,&nbsp;Seyed Amirali Zakavi ,&nbsp;Arian Sarafraz ,&nbsp;Maryam Valifard ,&nbsp;Salar Yousefzadeh ,&nbsp;Zahra Mashhadi Tafreshi ,&nbsp;Omid Anbiyaee ,&nbsp;Navid Rostami ,&nbsp;Mahsa Asadi Anar ,&nbsp;Niloofar Deravi","doi":"10.1016/j.ensci.2025.100579","DOIUrl":"10.1016/j.ensci.2025.100579","url":null,"abstract":"<div><h3>Background</h3><div>Amyotrophic Lateral Sclerosis (ALS) is a degenerative neurologic disease with no definitive biomarkers for early detection. This paper discusses the use of acoustic analysis of sustained vowel phonations (SVP) and machine learning in ALS detection.</div></div><div><h3>Methods</h3><div>An SVP corpus of 128 (64 /a/ and 64 /i/) from 31 patients with ALS and 33 healthy controls (HC) was employed. 131 acoustic features, including jitter, shimmer, Mel-Frequency Cepstral Coefficients (MFCCs), and Pathological Vibrato Index (PVI), were extracted. A LightGBM (Light Gradient Boosting Machine)-based model was built and optimized using 5-fold cross-validation to separate ALS cases. Model performance and feature importance were evaluated.</div></div><div><h3>Results</h3><div>The model performed well with high predictability, yielding an RMSLE of 0.162 and most predictions closely correlating with actual diagnoses. The top features obtained were S55_i, CCI(2), and dCCa(12), which were consistently at the top of the ranking list, indicating their role in ALS detection. The PVI was determined to be a significant biomarker with high values having high correlations with ALS diagnoses. But the multimodal nature of the predictive values indicated some flaws in generalization.</div></div><div><h3>Conclusion</h3><div>This paper demonstrates the applicability of acoustic analysis and machine learning for early ALS detection. The proposed method provides an affordable, low-cost, and non-invasive way for ALS diagnosis with potential for application in telemedicine and clinical settings. Future research must expand datasets and integrate additional diagnostic modalities to improve the model's robustness and clinical translation.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"40 ","pages":"Article 100579"},"PeriodicalIF":0.0,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144780878","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}
引用次数: 0
CANOMAD mimicking anti-MAG/SGPG neuropathy: A case highlighting the diagnostic specificity of ophthalmoplegia and cold agglutination CANOMAD模拟抗mag /SGPG神经病变:1例突出眼麻痹和冷凝集的诊断特异性
eNeurologicalSci Pub Date : 2025-07-28 DOI: 10.1016/j.ensci.2025.100580
Homare Funasaka , Akira Hanazono , Koh Abe , Takaya Yamashita , Hinako Shimada , Keita Yasuda , Yoshiko Takahashi , Yui Sanpei , Masashiro Sugawara
{"title":"CANOMAD mimicking anti-MAG/SGPG neuropathy: A case highlighting the diagnostic specificity of ophthalmoplegia and cold agglutination","authors":"Homare Funasaka ,&nbsp;Akira Hanazono ,&nbsp;Koh Abe ,&nbsp;Takaya Yamashita ,&nbsp;Hinako Shimada ,&nbsp;Keita Yasuda ,&nbsp;Yoshiko Takahashi ,&nbsp;Yui Sanpei ,&nbsp;Masashiro Sugawara","doi":"10.1016/j.ensci.2025.100580","DOIUrl":"10.1016/j.ensci.2025.100580","url":null,"abstract":"<div><div>Anti-myelin-associated glycoprotein/sulfated glucuronyl paragloboside (MAG/SGPG) neuropathy is a major differential diagnosis for sensory ataxic neuropathy with IgM κ type M proteinemia. Alternatively and less commonly, an important differential diagnosis for chronic sensory ataxic neuropathy with IgM κ type M proteinemia is chronic ataxic neuropathy with ophthalmoplegia, M proteinemia, cold agglutinins, and disialosyl antibodies (CANOMAD), which has been reported to respond to therapies such as intravenous immunoglobulin (IVIg). Confusingly, this case tested positive for anti-SGPG antibodies despite CANOMAD.</div><div>A 68-year-old man had sensory ataxia, IgM κ type M protein, prolongation of distal latency without conduction block, and was positive for anti-SGPG IgM antibodies, which could be the misdiagnosis of anti-MAG/SGPG neuropathy. However, the patient had ptosis, binocular diplopia, cold agglutination, and anti-GQ1b IgM antibodies, fulfilling all the key features of CANOMAD. Consistently, IVIg therapy improved both clinical symptoms and electrophysiological findings. After that, anti-MAG antibody testing returned negative results.</div><div>Here, we report a case of CANOMAD with the presence of misleading anti-SGPG antibodies, revealing the risk of misdiagnosis because of reliance on anti-SGPG antibodies in the diagnosis of sensory ataxic neuropathy. The present case also emphasized that ocular symptoms (ptosis, binocular diplopia), and cold agglutination were more specific keys to the initial diagnosis of CANOMAD. The accurate diagnosis of CANOMAD may benefit patients by enabling appropriate treatment selection.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"40 ","pages":"Article 100580"},"PeriodicalIF":0.0,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144749448","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}
引用次数: 0
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