Jacobsen syndrome (JS) is a rare contiguous gene deletion disorder characterized by a deletion at the terminal end of the long arm of chromosome 11. JS has various phenotypic features, such as neurodevelopmental delays and congenital heart defects. Furthermore, deletion mutations in the long arm of chromosome 11 can also give rise to Megalocephalic Leukoencephalopathy (MLC), affecting the HEPCAM gene. The following case report presents a 9-year-old girl with JS and remarkable white matter abnormalities (WMA). Despite the complex clinical presentation with craniofacial anomalies and limb malformations, there were slow partial improvements in the WMAs over time as evidenced by sequential MRI findings. This case adds to the previously documented literature on the topic of white matter abnormalities in the context of Jacobsen syndrome, and showcases these changes after several years.
{"title":"The role of HEPCAM in Jacobsen syndrome: A pediatric case report highlighting white matter abnormalities","authors":"Ghazaleh Ghorbannezhad , Reza Nejad Shahrokh Abadi , Farrokh Seilanian Toosi , Shima Shekari , Saeedeh Sadat Mirtooni , Narges Hashemi","doi":"10.1016/j.dscb.2025.100186","DOIUrl":"10.1016/j.dscb.2025.100186","url":null,"abstract":"<div><div>Jacobsen syndrome (JS) is a rare contiguous gene deletion disorder characterized by a deletion at the terminal end of the long arm of chromosome 11. JS has various phenotypic features, such as neurodevelopmental delays and congenital heart defects. Furthermore, deletion mutations in the long arm of chromosome 11 can also give rise to Megalocephalic Leukoencephalopathy (MLC), affecting the HEPCAM gene. The following case report presents a 9-year-old girl with JS and remarkable white matter abnormalities (WMA). Despite the complex clinical presentation with craniofacial anomalies and limb malformations, there were slow partial improvements in the WMAs over time as evidenced by sequential MRI findings. This case adds to the previously documented literature on the topic of white matter abnormalities in the context of Jacobsen syndrome, and showcases these changes after several years.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"17 ","pages":"Article 100186"},"PeriodicalIF":0.0,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143201820","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}
Pub Date : 2025-01-26DOI: 10.1016/j.dscb.2025.100184
Tie feng Lai , Hai Yu
Acute intracranial hemorrhage stemming from meningiomas represents a rare phenomenon. We report on a case of atypical parasagittal meningioma in the left fronto-parietal lobe presenting with right lower extremity paralysis due to intra-tumoral and subdural hemorrhage.Hemorrhagic meningioma in the central gyrus region is rarely reported, the clinical and imaging presentations could closely mimic a ruptured, thrombosed vascular malformation. The vascular proliferation and tumor invasion may play a pivotal role in the spontaneous hemorrhage from meningiomas.
{"title":"Presentation of paralytic stroke due to hemorrhagic atypical parasagittal meningioma:A case report","authors":"Tie feng Lai , Hai Yu","doi":"10.1016/j.dscb.2025.100184","DOIUrl":"10.1016/j.dscb.2025.100184","url":null,"abstract":"<div><div>Acute intracranial hemorrhage stemming from meningiomas represents a rare phenomenon. We report on a case of atypical parasagittal meningioma in the left fronto-parietal lobe presenting with right lower extremity paralysis due to intra-tumoral and subdural hemorrhage.Hemorrhagic meningioma in the central gyrus region is rarely reported, the clinical and imaging presentations could closely mimic a ruptured, thrombosed vascular malformation. The vascular proliferation and tumor invasion may play a pivotal role in the spontaneous hemorrhage from meningiomas.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"17 ","pages":"Article 100184"},"PeriodicalIF":0.0,"publicationDate":"2025-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143129814","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}
Pub Date : 2025-01-24DOI: 10.1016/j.dscb.2025.100182
Santosh Prasad Chaudhary Kurmi , Dipanjan Karati
Alzheimer's disease (AD) is a chronic and progressive neurodegenerative disorder. Beta-amyloid plaques and tau protein tangles emerge in the brain as pathological hallmarks of AD. One important enzyme involved in tau phosphorylation, Glycogen Synthase Kinase-3β (GSK-3β), has become a viable therapeutic target for AD. A new approach to AD intervention is provided by polyphenolic stilbene derivatives, which are well-known for their wide range of biological activities and show strong inhibitory capability against GSK-3β. This work uses computational methods, such as molecular docking, binding energy analysis, and structure-activity relationship (SAR) insights, to investigate the inhibitory action of polyphenolic stilbene derivatives. Molecular docking and MD-simulation of the best docked Piceid (C12) compounds were used to analyze the backbone stability and conformational binding affinity with the target protein GSK-3β. The SAR of Piceid and GSK-3β protein was specifically examined as the primary candidate target. Furthermore, binding free energy (MMGBSA), drug-likeness and toxicity, medicinal chemistry parameters were investigated in support to be lead compound for drug discovery. The molecular docking binding affinity of Piceid (C12) compound was found -8.8 Kcal/mol which is higher than GSK-3β inhibitor standard compound Laduviglusib (C18) has binding energy -8.7 Kcal/mol. These results imply that piceid has potential as an AD treatment because to its favorable interaction profile and high binding affinity.
{"title":"Inhibitory potential of polyphenolic stilbene derivatives with Glycogen Synthase Kinase-3β (GSK-3β) for Alzheimer's disease: Computational and SAR insights","authors":"Santosh Prasad Chaudhary Kurmi , Dipanjan Karati","doi":"10.1016/j.dscb.2025.100182","DOIUrl":"10.1016/j.dscb.2025.100182","url":null,"abstract":"<div><div>Alzheimer's disease (AD) is a chronic and progressive neurodegenerative disorder. Beta-amyloid plaques and tau protein tangles emerge in the brain as pathological hallmarks of AD. One important enzyme involved in tau phosphorylation, Glycogen Synthase Kinase-3β (GSK-3β), has become a viable therapeutic target for AD. A new approach to AD intervention is provided by polyphenolic stilbene derivatives, which are well-known for their wide range of biological activities and show strong inhibitory capability against GSK-3β. This work uses computational methods, such as molecular docking, binding energy analysis, and structure-activity relationship (SAR) insights, to investigate the inhibitory action of polyphenolic stilbene derivatives. Molecular docking and MD-simulation of the best docked Piceid (C12) compounds were used to analyze the backbone stability and conformational binding affinity with the target protein GSK-3β. The SAR of Piceid and GSK-3β protein was specifically examined as the primary candidate target. Furthermore, binding free energy (MMGBSA), drug-likeness and toxicity, medicinal chemistry parameters were investigated in support to be lead compound for drug discovery. The molecular docking binding affinity of Piceid <strong>(C12)</strong> compound was found -8.8 Kcal/mol which is higher than GSK-3β inhibitor standard compound Laduviglusib <strong>(C18)</strong> has binding energy -8.7 Kcal/mol. These results imply that piceid has potential as an AD treatment because to its favorable interaction profile and high binding affinity.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"17 ","pages":"Article 100182"},"PeriodicalIF":0.0,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143129812","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}
Pub Date : 2025-01-22DOI: 10.1016/j.dscb.2025.100183
Nikhil More, Angel Godad
Parkinson's disease (PD) is a neurodegenerative disorder that affects overall motor activity due to the loss of dopaminergic neurons in the SNpc (Substantia Nigra Pars Compacta) region of the brain. Despite incessant research and development of new therapeutic agents, management of PD is still a troublesome affair. Histone Deacetylase 1 (HDAC-1-1) is an epigenetic regulator which plays an important role in the pathogenesis of PD. In the present study, we hypothesized that Phenethyl isothiocyanate (PEITC), a potent inhibitor of HDAC-1-1, may ameliorate PD. Efficacy of PEITC was evaluated in rotenone-induced PD model in Male Wistar Male rats. Rotenone (2.5mg/kg) was injected intraperitoneally for 28 days to all the groups except Normal Control. The administration of test drug PEITC (5, 10 & 20 mg/kg) and standard drug levodopa with carbidopa was given for 28 days. The animals were subjected to various behavioural parameters to assess motor co-ordination and groups treated with PEITC showed better performance with P<0.05 when compared with rotenone treated group. Further, HDAC-1 levels in brain tissue homogenate and histological analysis were performed. Prophylactic treatment of PEITC attenuated motor dysfunction in dose dose-dependent manner. Furthermore, there was a significant decrease in HDAC-1 levels in brain tissue homogenate in the treatment group. Histological analysis revealed a decrease in neuronal loss and vacuolization. Results of this study suggest potent anti-Parkinsonism activity of PEITC in Rotenone induced rat model of PD.
{"title":"Phenethyl isothiocynate attenuates Parkinson's disease and improves performance in hanging wire, rotarod and actophotometer test & dopamine levels in rats via inhibiting HDAC-1","authors":"Nikhil More, Angel Godad","doi":"10.1016/j.dscb.2025.100183","DOIUrl":"10.1016/j.dscb.2025.100183","url":null,"abstract":"<div><div>Parkinson's disease (PD) is a neurodegenerative disorder that affects overall motor activity due to the loss of dopaminergic neurons in the SNpc (Substantia Nigra Pars Compacta) region of the brain. Despite incessant research and development of new therapeutic agents, management of PD is still a troublesome affair. Histone Deacetylase 1 (HDAC-1-1) is an epigenetic regulator which plays an important role in the pathogenesis of PD. In the present study, we hypothesized that Phenethyl isothiocyanate (PEITC), a potent inhibitor of HDAC-1-1, may ameliorate PD. Efficacy of PEITC was evaluated in rotenone-induced PD model in Male Wistar Male rats. Rotenone (2.5mg/kg) was injected intraperitoneally for 28 days to all the groups except Normal Control. The administration of test drug PEITC (5, 10 & 20 mg/kg) and standard drug levodopa with carbidopa was given for 28 days. The animals were subjected to various behavioural parameters to assess motor co-ordination and groups treated with PEITC showed better performance with P<0.05 when compared with rotenone treated group. Further, HDAC-1 levels in brain tissue homogenate and histological analysis were performed. Prophylactic treatment of PEITC attenuated motor dysfunction in dose dose-dependent manner. Furthermore, there was a significant decrease in HDAC-1 levels in brain tissue homogenate in the treatment group. Histological analysis revealed a decrease in neuronal loss and vacuolization. Results of this study suggest potent anti-Parkinsonism activity of PEITC in Rotenone induced rat model of PD.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"17 ","pages":"Article 100183"},"PeriodicalIF":0.0,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143129813","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}
Pub Date : 2025-01-09DOI: 10.1016/j.dscb.2024.100180
Mohd.Shoeb Abdul Mukhtar, Ravikant Gupta, Renuka Balpande
Epilepsy is one of the most common neurological conditions worldwide. Cannabinoids, particularly cannabidiol (CBD) and tetrahydrocannabinol (THC), have demonstrated therapeutic potential in the treatment of epilepsy due to their interaction with the endocannabinoids system. Despite these developments, the use of medical cannabis is still complicated because of legal obstacles, the different psychoactive effects of different cannabinoid receptors, and concerns about long-term safety, especially in populations with young children. The development of new regulations will be essential to increasing access to patients' cannabis medications. Cannabis has the potential to change the therapeutic landscape for neurological illnesses like seizures, provided that science and regulation continue to progress.
{"title":"Assessing the neuroprotective benefits of Cannabis sativa in epilepsy management","authors":"Mohd.Shoeb Abdul Mukhtar, Ravikant Gupta, Renuka Balpande","doi":"10.1016/j.dscb.2024.100180","DOIUrl":"10.1016/j.dscb.2024.100180","url":null,"abstract":"<div><div>Epilepsy is one of the most common neurological conditions worldwide. Cannabinoids, particularly cannabidiol (CBD) and tetrahydrocannabinol (THC), have demonstrated therapeutic potential in the treatment of epilepsy due to their interaction with the endocannabinoids system. Despite these developments, the use of medical cannabis is still complicated because of legal obstacles, the different psychoactive effects of different cannabinoid receptors, and concerns about long-term safety, especially in populations with young children. The development of new regulations will be essential to increasing access to patients' cannabis medications. Cannabis has the potential to change the therapeutic landscape for neurological illnesses like seizures, provided that science and regulation continue to progress.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"17 ","pages":"Article 100180"},"PeriodicalIF":0.0,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143129816","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}
Pub Date : 2024-12-24DOI: 10.1016/j.dscb.2024.100179
Ajaya Kumar Ayyappan Unnithan, Anu Jose Markose
A 76-year old man presented with dysphagia, decreased response and generalised weakness. He had acute subdural hematoma two years back and decompressive craniectomy was done for that. After one year, he had poorly differentiated carcinoma of esophagus with multiple metastases in right supraclavicular lymph node, lung, liver, and left ilium. The stage was T3N1M1 and grade was G3. Contrast enhanced computed tomography brain showed an enhancing extraaxial swelling in the craniectomy site, compressing the brain. He went into coma. He was ventilated. Surgical decompression was done. Fleshy pink growth in the plane of duraplasty was excised. He developed myocardial infarction and succumbed. Histopathological result came as metastasis form adenocarcinoma. Immunohistochemistry showed strong membrane positivity for Pan-cytokeratin. This is the first report of a metastasis in duraplasty done for an earlier surgery, although there are lots of reports of metastases in duramater.
{"title":"A rare case report of metastasis to duraplasty site in a patient with esophageal carcinoma","authors":"Ajaya Kumar Ayyappan Unnithan, Anu Jose Markose","doi":"10.1016/j.dscb.2024.100179","DOIUrl":"10.1016/j.dscb.2024.100179","url":null,"abstract":"<div><div>A 76-year old man presented with dysphagia, decreased response and generalised weakness. He had acute subdural hematoma two years back and decompressive craniectomy was done for that. After one year, he had poorly differentiated carcinoma of esophagus with multiple metastases in right supraclavicular lymph node, lung, liver, and left ilium. The stage was T3N1M1 and grade was G3. Contrast enhanced computed tomography brain showed an enhancing extraaxial swelling in the craniectomy site, compressing the brain. He went into coma. He was ventilated. Surgical decompression was done. Fleshy pink growth in the plane of duraplasty was excised. He developed myocardial infarction and succumbed. Histopathological result came as metastasis form adenocarcinoma. Immunohistochemistry showed strong membrane positivity for Pan-cytokeratin. This is the first report of a metastasis in duraplasty done for an earlier surgery, although there are lots of reports of metastases in duramater.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"17 ","pages":"Article 100179"},"PeriodicalIF":0.0,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143129325","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}
Pub Date : 2024-12-23DOI: 10.1016/j.dscb.2024.100178
Chandana Yesudas, Neethu P, Illakkiam Devaraj
Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterised by the accumulation of amyloid-beta plaques and tau tangles in the brain. We conducted a comprehensive Differential Gene Expression (DGE) analysis using RNA sequencing and microarray datasets from the Gene Expression Omnibus (GEO) database to elucidate the molecular mechanisms underlying AD. Forty-three datasets, encompassing 902 samples from various biological sources, were analysed. The study identified 157 frequently upregulated and 177 down-regulated genes associated with AD. Upregulated genes include DDX3Y, H6PD and KIF1B, while down-regulated genes include CREM, CD44, and HES4. Functional enrichment analysis using Enrichr revealed significantly upregulated pathways, including the PI3K-Akt signalling and Wnt signalling pathways. The downregulated pathways include the immune system and TNF signalling pathway. Network analysis with STRING identified key interactive genes, including MYC, HSP90AB1 and CENPA among the upregulated genes, and ENO1, RPLP0, and RPS3A among down-regulated genes. Additionally, the research focused on identifying transcription factors and miRNAs associated with AD, revealing critical regulatory elements influencing disease progression. These findings provide insights into the dysregulated pathways, key genes, and regulatory mechanisms involved in AD, offering potential targets for therapeutic intervention.
{"title":"Genetic insights and molecular pathways in Alzheimer's disease: Unveiling the complexity of neurodegeneration","authors":"Chandana Yesudas, Neethu P, Illakkiam Devaraj","doi":"10.1016/j.dscb.2024.100178","DOIUrl":"10.1016/j.dscb.2024.100178","url":null,"abstract":"<div><div>Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterised by the accumulation of amyloid-beta plaques and tau tangles in the brain. We conducted a comprehensive Differential Gene Expression (DGE) analysis using RNA sequencing and microarray datasets from the Gene Expression Omnibus (GEO) database to elucidate the molecular mechanisms underlying AD. Forty-three datasets, encompassing 902 samples from various biological sources, were analysed. The study identified 157 frequently upregulated and 177 down-regulated genes associated with AD. Upregulated genes include <em>DDX3Y, H6PD</em> and <em>KIF1B</em>, while down-regulated genes include <em>CREM, CD44,</em> and HES4. Functional enrichment analysis using Enrichr revealed significantly upregulated pathways, including the PI3K-Akt signalling and Wnt signalling pathways. The downregulated pathways include the immune system and TNF signalling pathway. Network analysis with STRING identified key interactive genes, including <em>MYC, HSP90AB1</em> and <em>CENPA</em> among the upregulated genes, and <em>ENO1, RPLP0</em>, and <em>RPS3A</em> among down-regulated genes. Additionally, the research focused on identifying transcription factors and miRNAs associated with AD, revealing critical regulatory elements influencing disease progression. These findings provide insights into the dysregulated pathways, key genes, and regulatory mechanisms involved in AD, offering potential targets for therapeutic intervention.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"17 ","pages":"Article 100178"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143129817","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}
Acquired demyelinating syndrome (ADS) is a group of inflammatory immune-mediated attacks on the central nervous system's (CNS) myelin sheath, presenting as optic neuritis or transverse myelitis. The study aimed to studying ADS in children is growing, with implications for better management and outcome. This is a cross-sectional study analyzing patients with neuro-immune diseases at Al-Azhar University hospitals under 18 years old with CNS inflammatory demyelination. They undergo comprehensive medical and neurological examinations, with follow-up data collected at six-months post-onset. Diagnosis requires AQP4 antibody, clinical criteria, and additional magnetic resonance imaging (MRI) requirements. The study included 59 patients with ADS; 46 % were diagnosed with acute disseminated encephalomyelitis (ADEM), 14 % had clinically isolated syndrome (CIS), 14 % had myelin oligodendrocyte glycoprotein antibody disease (MOGAD), 20 % had multiple sclerosis (MS), and 6.8 % had neuromyelitis optica spectrum disorder (NMOSD). Most participants were urban residents. Clinical presentation showed encephalopathy in 55.9 % of participants, with ADEM having the highest prevalence (93 %). Motor symptoms were prevalent in 84.7 %, with sensory symptoms highest in the NMOSD group. Cerebellar symptoms were reported by 52 %, with ADEM having the highest rate (74 %). 20.3 % of cases had brain abnormalities on MRI scans, with no significant difference between groups. In conclusion this study provides detailed information on pediatric ADS (PADS) patients in Egypt, a developing country lacking research coverage. It investigates clinical profiles, laboratory findings, treatment, and prognosis. However, limitations include a single center experience, potential information bias, and short follow-up duration, highlighting the need for more longitudinal multicenter studies.
{"title":"Acquired demyelinating disorders of the central nervous system in a sample of Egyptian children","authors":"Mohamed Ahmed, Shora Mostafa, Mohamed Rashad, Abdel-Ghaffar Fayed","doi":"10.1016/j.dscb.2024.100177","DOIUrl":"10.1016/j.dscb.2024.100177","url":null,"abstract":"<div><div>Acquired demyelinating syndrome (ADS) is a group of inflammatory immune-mediated attacks on the central nervous system's (CNS) myelin sheath, presenting as optic neuritis or transverse myelitis. The study aimed to studying ADS in children is growing, with implications for better management and outcome. This is a cross-sectional study analyzing patients with neuro-immune diseases at Al-Azhar University hospitals under 18 years old with CNS inflammatory demyelination. They undergo comprehensive medical and neurological examinations, with follow-up data collected at six-months post-onset. Diagnosis requires AQP4 antibody, clinical criteria, and additional magnetic resonance imaging (MRI) requirements. The study included 59 patients with ADS; 46 % were diagnosed with acute disseminated encephalomyelitis (ADEM), 14 % had clinically isolated syndrome (CIS), 14 % had myelin oligodendrocyte glycoprotein antibody disease (MOGAD), 20 % had multiple sclerosis (MS), and 6.8 % had neuromyelitis optica spectrum disorder (NMOSD). Most participants were urban residents. Clinical presentation showed encephalopathy in 55.9 % of participants, with ADEM having the highest prevalence (93 %). Motor symptoms were prevalent in 84.7 %, with sensory symptoms highest in the NMOSD group. Cerebellar symptoms were reported by 52 %, with ADEM having the highest rate (74 %). 20.3 % of cases had brain abnormalities on MRI scans, with no significant difference between groups. In conclusion this study provides detailed information on pediatric ADS (PADS) patients in Egypt, a developing country lacking research coverage. It investigates clinical profiles, laboratory findings, treatment, and prognosis. However, limitations include a single center experience, potential information bias, and short follow-up duration, highlighting the need for more longitudinal multicenter studies.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"17 ","pages":"Article 100177"},"PeriodicalIF":0.0,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143129818","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}
Pub Date : 2024-12-15DOI: 10.1016/j.dscb.2024.100176
Shriya Parekh , Deepa Anand Bapat
Corpus callosotomy is a commonly used surgical procedure for seizure relief in individuals with drug-resistant epilepsy but little is known about the functional outcomes of this surgery in adults. This paper systematically reviews published literature pertaining to post-surgical outcomes across cognitive and non-cognitive functional domains after anterior or total corpus callosotomy. Based on the 15 papers that met our inclusion criteria, our review suggested that praxis and visuoconstructional skills may be especially susceptible to decline after surgery, despite reduced seizure burden, with levels of attention and intellectual functioning often maintained or improving. Non-cognitive functional outcomes (quality of life, independent living, mood and behaviour) generally improved with reduced seizure burden.
{"title":"Functional outcomes in adults following corpus callosotomy: A systematic review","authors":"Shriya Parekh , Deepa Anand Bapat","doi":"10.1016/j.dscb.2024.100176","DOIUrl":"10.1016/j.dscb.2024.100176","url":null,"abstract":"<div><div>Corpus callosotomy is a commonly used surgical procedure for seizure relief in individuals with drug-resistant epilepsy but little is known about the functional outcomes of this surgery in adults. This paper systematically reviews published literature pertaining to post-surgical outcomes across cognitive and non-cognitive functional domains after anterior or total corpus callosotomy. Based on the 15 papers that met our inclusion criteria, our review suggested that praxis and visuoconstructional skills may be especially susceptible to decline after surgery, despite reduced seizure burden, with levels of attention and intellectual functioning often maintained or improving. Non-cognitive functional outcomes (quality of life, independent living, mood and behaviour) generally improved with reduced seizure burden.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"17 ","pages":"Article 100176"},"PeriodicalIF":0.0,"publicationDate":"2024-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143129802","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}
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