Pub Date : 2025-04-08DOI: 10.1016/j.dscb.2025.100219
K. Fazeli , S.B. Jameie , M. Farhadi
Hypercapnia, an increase in carbon dioxide (CO2) in the bloodstream, has been historically considered purely a pathological condition. However, based on several publications evaluating the adverse outcome of certain conditions with an additional hypercapnia, It was discovered that hypercapnia can be also utilized as a therapeutic strategy. The most common of these strategies is permissive hypercapnia, which is described by inducing PaCO2 in inhalation while breathing under a mechanical ventilator in order to reduce secondary lung injuries. Subsequently, hypercapnia was also discovered as an effective anti-apoptotic and anti-ischemic agent while evaluated on neurons in vitro and rat models. As a result, hypercapnia has been utilized as an intervention in several clinical trials regarding different neurological conditions, most notably Sub-Arachnoid Hemorrhage. Mild levels of induced Hypercapnia is capable of preventing serious delayed vasospastic ischemic attacks and increases the overall cerebral blood flow which leads to significantly better outcomes in patients with severe acute neurological conditions. The anti-apoptotic and neuroprotective characteristics of CO2 suggest induced hypercapnia as a potential strategy for preventing more chronic neuropathological conditions. This article aims to review the publications surrounding the neuro-therapeutic effects of hypercapnia and discuss the advantages, drawbacks, and future of hypercapnia as an impactful strategy in preventing and treating neurological pathologies.
{"title":"Hypercapnia as a preventative therapeutic strategy: Unveiling the neuroprotective potential and mechanisms","authors":"K. Fazeli , S.B. Jameie , M. Farhadi","doi":"10.1016/j.dscb.2025.100219","DOIUrl":"10.1016/j.dscb.2025.100219","url":null,"abstract":"<div><div>Hypercapnia, an increase in carbon dioxide (CO2) in the bloodstream, has been historically considered purely a pathological condition. However, based on several publications evaluating the adverse outcome of certain conditions with an additional hypercapnia, It was discovered that hypercapnia can be also utilized as a therapeutic strategy. The most common of these strategies is permissive hypercapnia, which is described by inducing PaCO2 in inhalation while breathing under a mechanical ventilator in order to reduce secondary lung injuries. Subsequently, hypercapnia was also discovered as an effective anti-apoptotic and anti-ischemic agent while evaluated on neurons in vitro and rat models. As a result, hypercapnia has been utilized as an intervention in several clinical trials regarding different neurological conditions, most notably Sub-Arachnoid Hemorrhage. Mild levels of induced Hypercapnia is capable of preventing serious delayed vasospastic ischemic attacks and increases the overall cerebral blood flow which leads to significantly better outcomes in patients with severe acute neurological conditions. The anti-apoptotic and neuroprotective characteristics of CO2 suggest induced hypercapnia as a potential strategy for preventing more chronic neuropathological conditions. This article aims to review the publications surrounding the neuro-therapeutic effects of hypercapnia and discuss the advantages, drawbacks, and future of hypercapnia as an impactful strategy in preventing and treating neurological pathologies.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"18 ","pages":"Article 100219"},"PeriodicalIF":0.0,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143839785","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}
Pub Date : 2025-04-04DOI: 10.1016/j.dscb.2025.100221
Chiara Di Fazio , Eugenio Scaliti , Mario Stanziano , Anna Nigri , Greta Demichelis , Marco Tamietto , Sara Palermo
Understanding the mechanisms underlying brain ageing and age-related pathologies is crucial for addressing cognitive decline. Non-invasive brain stimulation techniques such as repetitive transcranial magnetic stimulation (rTMS) have gained prominence due to their ability to modulate neurophysiological, affective and cognitive brain functions. In this case study, we present a 61-year-old woman who suffered from mood disturbances, sleep disturbances, fatigue and cognitive decline. A comprehensive neuropsychological assessment was performed to evaluate mood, cognition and quality of life. The elderly woman underwent rTMS treatment targeting the left dorsolateral prefrontal cortex (DLPFC), a region critical for executive functions and mood regulation. Significant improvements were observed in attention, processing speed, and cognitive flexibility, as evidenced by reductions in completion times on the Trail Making Test (TMT). In addition to clinical and cognitive outcomes, cortical excitability was assessed through motor-evoked potentials (MEPs) before and after the intervention. Modulation of MEPs amplitude was observed post-treatment, suggesting neurophysiological changes potentially linked to the normalization of cortical activity. Our findings suggest that rTMS may be a well-tolerated and potentially effective intervention for improving cognitive function and stabilizing mood in older adults experiencing age-related cognitive decline and mood disorders.
{"title":"rTMS for enhancing cognitive reserve: A case report","authors":"Chiara Di Fazio , Eugenio Scaliti , Mario Stanziano , Anna Nigri , Greta Demichelis , Marco Tamietto , Sara Palermo","doi":"10.1016/j.dscb.2025.100221","DOIUrl":"10.1016/j.dscb.2025.100221","url":null,"abstract":"<div><div>Understanding the mechanisms underlying brain ageing and age-related pathologies is crucial for addressing cognitive decline. Non-invasive brain stimulation techniques such as repetitive transcranial magnetic stimulation (rTMS) have gained prominence due to their ability to modulate neurophysiological, affective and cognitive brain functions. In this case study, we present a 61-year-old woman who suffered from mood disturbances, sleep disturbances, fatigue and cognitive decline. A comprehensive neuropsychological assessment was performed to evaluate mood, cognition and quality of life. The elderly woman underwent rTMS treatment targeting the left dorsolateral prefrontal cortex (DLPFC), a region critical for executive functions and mood regulation. Significant improvements were observed in attention, processing speed, and cognitive flexibility, as evidenced by reductions in completion times on the Trail Making Test (TMT). In addition to clinical and cognitive outcomes, cortical excitability was assessed through motor-evoked potentials (MEPs) before and after the intervention. Modulation of MEPs amplitude was observed post-treatment, suggesting neurophysiological changes potentially linked to the normalization of cortical activity. Our findings suggest that rTMS may be a well-tolerated and potentially effective intervention for improving cognitive function and stabilizing mood in older adults experiencing age-related cognitive decline and mood disorders.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"18 ","pages":"Article 100221"},"PeriodicalIF":0.0,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143791861","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}
Cognitive impairment, a prevalent issue in aging populations, significantly affects quality of life and public health systems. Among various contributing factors, Vitamin B12 deficiency emerges as a critical yet modifiable risk factor, impacting neurological and cognitive health. Vitamin B12, an essential micronutrient derived from animal-based foods, is vital for myelin integrity, neurotransmitter synthesis, and homocysteine metabolism. Its deficiency disrupts these processes, leading to neurotoxic effects such as oxidative stress, vascular damage, and neurodegeneration, which exacerbate cognitive decline. This review combines evidence from human and animal studies on the neurocognitive impacts of Vitamin B12 deficiency and evaluates supplementation strategies. It underscores the multifactorial nature of B12 deficiency, driven by dietary inadequacies, physiological changes, and environmental factors, especially in high-risk groups such as the elderly and vegetarians. Proactive measures, including routine screening, dietary adjustments, and early supplementation, are essential to prevent deficiency-related cognitive impairments. Advancements in biomarkers and neuroimaging also promise improved diagnosis and intervention strategies, highlighting an interdisciplinary approach to optimizing cognitive health outcomes.
{"title":"Vitamin B12 deficiency and cognitive impairment: A comprehensive review of neurological impact","authors":"Milind Umekar , Tanvi Premchandani , Amol Tatode , Mohammad Qutub , Neha Raut , Jayshree Taksande , Ujban Md. Hussain","doi":"10.1016/j.dscb.2025.100220","DOIUrl":"10.1016/j.dscb.2025.100220","url":null,"abstract":"<div><div>Cognitive impairment, a prevalent issue in aging populations, significantly affects quality of life and public health systems. Among various contributing factors, Vitamin B12 deficiency emerges as a critical yet modifiable risk factor, impacting neurological and cognitive health. Vitamin B12, an essential micronutrient derived from animal-based foods, is vital for myelin integrity, neurotransmitter synthesis, and homocysteine metabolism. Its deficiency disrupts these processes, leading to neurotoxic effects such as oxidative stress, vascular damage, and neurodegeneration, which exacerbate cognitive decline. This review combines evidence from human and animal studies on the neurocognitive impacts of Vitamin B12 deficiency and evaluates supplementation strategies. It underscores the multifactorial nature of B12 deficiency, driven by dietary inadequacies, physiological changes, and environmental factors, especially in high-risk groups such as the elderly and vegetarians. Proactive measures, including routine screening, dietary adjustments, and early supplementation, are essential to prevent deficiency-related cognitive impairments. Advancements in biomarkers and neuroimaging also promise improved diagnosis and intervention strategies, highlighting an interdisciplinary approach to optimizing cognitive health outcomes.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"18 ","pages":"Article 100220"},"PeriodicalIF":0.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143791862","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 : 2025-03-29DOI: 10.1016/j.dscb.2025.100216
Thales Pimenta de Figueiredo , Débora Marques de Miranda , Antônio Marcos Alvim-Soares Júnior , Miss Ana Clara Silva Melo Franco
This case report discusses an unmarried female in her middle-thirties with a history of Recurrent Depressive Disorder. After taking both venlafaxine and desvenlafaxine, she began to show symptoms of Binge Eating Disorder. To alleviate these symptoms, she discontinued the medications and switched to bupropion, which helped her overcome the eating-related issues. However, her depressive symptoms then returned. The report examines how serotonin and norepinephrine reuptake inhibitors work, which may explain the observer phenomenon and clarify the eating behaviors in this case that might initially appear paradoxical. Moreover, it suggests clinicians close monitor outcomes when using such medications, as symptoms worsening might be an adverse effect rather than a disease progression. A diagrammatic timeline of the case report can be observed in Fig. 1.
{"title":"Binge eating disorder induced by venlafaxine and desvenlafaxine: A case report","authors":"Thales Pimenta de Figueiredo , Débora Marques de Miranda , Antônio Marcos Alvim-Soares Júnior , Miss Ana Clara Silva Melo Franco","doi":"10.1016/j.dscb.2025.100216","DOIUrl":"10.1016/j.dscb.2025.100216","url":null,"abstract":"<div><div>This case report discusses an unmarried female in her middle-thirties with a history of Recurrent Depressive Disorder. After taking both venlafaxine and desvenlafaxine, she began to show symptoms of Binge Eating Disorder. To alleviate these symptoms, she discontinued the medications and switched to bupropion, which helped her overcome the eating-related issues. However, her depressive symptoms then returned. The report examines how serotonin and norepinephrine reuptake inhibitors work, which may explain the observer phenomenon and clarify the eating behaviors in this case that might initially appear paradoxical. Moreover, it suggests clinicians close monitor outcomes when using such medications, as symptoms worsening might be an adverse effect rather than a disease progression. A diagrammatic timeline of the case report can be observed in <span><span>Fig. 1</span></span>.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"18 ","pages":"Article 100216"},"PeriodicalIF":0.0,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143839784","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}
Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by cognitive decline, memory loss, and behavioral changes. Calcineurin (CaN), a calcium/calmodulin-dependent serine/threonine phosphatase, is hyperactivated in AD, leading to enhanced neuroinflammation, synaptic dysfunction, and tau hyperphosphorylation. Similarly, the dysregulation of ionotropic glutamate receptors (iGluRs), particularly NMDA receptors in the context of AD, aggravates excitotoxicity, which in turn contributes to neuronal damage and cognitive deficits. Moreover, AMPA and kainate receptors also play significant roles in synaptic plasticity and neurodegeneration.
The intricate interplay between CaN and iGluRs, specifically NMDA, AMPA, and kainate receptors, through various signaling pathways plays a crucial role in AD pathogenesis. Therapeutic approaches targeting the CaN-iGluR axis, including CaN inhibitors and iGluR modulators, have the potential to mitigate the progression of AD and improve cognitive functions associated with the disease.
This systematic review aims to consolidate current knowledge on the molecular mechanisms underlying CaN and iGluR dysregulation in AD and discuss their potential as therapeutic targets. Future investigations should prioritize elucidating the precise interactions between CaN and iGluRs, as well as developing selective modulators to enhance the efficacy and safety of therapeutic interventions for AD.
{"title":"Role of calcineurin and ionotropic glutamate receptors in Alzheimer's disease: A systematic review","authors":"Awgichew Behaile Teklemariam , Edgeit Abebe Zewde , Melaku Mekonnen Agidew , Sisay Ayalkibet Siyamrew , Lemlemu Maru , Zelalem Tilahun Muche","doi":"10.1016/j.dscb.2025.100218","DOIUrl":"10.1016/j.dscb.2025.100218","url":null,"abstract":"<div><div>Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by cognitive decline, memory loss, and behavioral changes. Calcineurin (CaN), a calcium/calmodulin-dependent serine/threonine phosphatase, is hyperactivated in AD, leading to enhanced neuroinflammation, synaptic dysfunction, and tau hyperphosphorylation. Similarly, the dysregulation of ionotropic glutamate receptors (iGluRs), particularly NMDA receptors in the context of AD, aggravates excitotoxicity, which in turn contributes to neuronal damage and cognitive deficits. Moreover, AMPA and kainate receptors also play significant roles in synaptic plasticity and neurodegeneration.</div><div>The intricate interplay between CaN and iGluRs, specifically NMDA, AMPA, and kainate receptors, through various signaling pathways plays a crucial role in AD pathogenesis. Therapeutic approaches targeting the CaN-iGluR axis, including CaN inhibitors and iGluR modulators, have the potential to mitigate the progression of AD and improve cognitive functions associated with the disease.</div><div>This systematic review aims to consolidate current knowledge on the molecular mechanisms underlying CaN and iGluR dysregulation in AD and discuss their potential as therapeutic targets. Future investigations should prioritize elucidating the precise interactions between CaN and iGluRs, as well as developing selective modulators to enhance the efficacy and safety of therapeutic interventions for AD.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"18 ","pages":"Article 100218"},"PeriodicalIF":0.0,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143785708","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 : 2025-03-27DOI: 10.1016/j.dscb.2025.100217
Saraswathi Ramanathan , Prince Thakkar , Harshad Vanjare , Raji Thomas , George Tharion , Bijesh Yadav
Objective
To study the long-term outcome of non-perinatal Hypoxic Ischemic Encephalopathy (HIE) and to co-relate clinical outcomes with neuroimaging findings.
Materials and Methods
Retrospective chart review and telephonic follow up study.
Family members of 72 patients, out of 101 screened patients (admitted to an inpatient rehabilitation facility with diagnosis of “HIE” within 6 months of hypoxic insult) were contactable and current telephonic modified Rankin Scale (mRS) was documented. mRS of 0–3 was considered as favorable clinical outcome and mRS of 4–6 as poor outcome. Neuroimaging (CT and MRI) were reviewed by a neuro-radiologist.
Results
The mean (SD) age was 34.06 (18.33) years. One year survival rate was 84.7 % (61/72 patients), with severe disability (mRS 5) in 78.6 % (n = 48) of survivors. At follow up, 60 patients (83.3 %) had poor outcome (mRS 6, 38.9 %, n = 28; mRS 5, 31.9 %, n = 23; mRS 4, 12.5 %, n = 9) and 12 patients (16.7 %) had favorable clinical outcome (mRS 2 and 3). Patients with favorable outcomes had normal imaging or subcortical involvement without diffusion restriction. Diffuse cortical and deep grey involvement, diffuse cortical white matter involvement, cerebellar involvement and brain stem involvement had worse prognosis.
Conclusion
HIE has an overall poor outcome in 83.3 % of the patients. Focal findings on MRI may have a slightly better prognosis than diffuse findings.
目的研究非围产期缺氧缺血性脑病(HIE)的长期预后,并探讨其临床预后与神经影像学表现的相关性。材料与方法回顾性图表复习和电话随访研究。101例筛查患者(在缺氧损伤后6个月内被诊断为“HIE”而入住住院康复机构)中,有72例患者的家庭成员被联系,并记录了当前的电话修改Rankin量表(mRS)。mRS 0 ~ 3分为临床预后良好,mRS 4 ~ 6分为临床预后不良。神经影像学检查(CT和MRI)由神经放射科医生检查。结果患者平均(SD)年龄为34.06岁(18.33岁)。1年生存率为84.7%(61/72例),重度残疾(mRS 5)者占78.6% (n = 48)。随访时,60例(83.3%)患者预后不良(mRS 6, 38.9%, n = 28;mRS 5, 31.9%, n = 23;mRS 4, 12.5%, n = 9)和12例患者(16.7%)有良好的临床结果(mRS 2和mRS 3)。结果良好的患者影像学正常或皮质下受累,无扩散限制。弥漫性皮质及深灰色受累、弥漫性皮质白质受累、小脑受累及脑干受累预后较差。结论83.3%的hie患者预后较差。MRI的局灶性表现可能比弥漫性表现预后稍好。
{"title":"Non-perinatal hypoxic ischemic encephalopathy – Long term outcome and clinico-radiological correlation","authors":"Saraswathi Ramanathan , Prince Thakkar , Harshad Vanjare , Raji Thomas , George Tharion , Bijesh Yadav","doi":"10.1016/j.dscb.2025.100217","DOIUrl":"10.1016/j.dscb.2025.100217","url":null,"abstract":"<div><h3>Objective</h3><div>To study the long-term outcome of non-perinatal Hypoxic Ischemic Encephalopathy (HIE) and to co-relate clinical outcomes with neuroimaging findings.</div></div><div><h3>Materials and Methods</h3><div>Retrospective chart review and telephonic follow up study.</div><div>Family members of 72 patients, out of 101 screened patients (admitted to an inpatient rehabilitation facility with diagnosis of “HIE” within 6 months of hypoxic insult) were contactable and current telephonic modified Rankin Scale (mRS) was documented. mRS of 0–3 was considered as favorable clinical outcome and mRS of 4–6 as poor outcome. Neuroimaging (CT and MRI) were reviewed by a neuro-radiologist.</div></div><div><h3>Results</h3><div>The mean (SD) age was 34.06 (18.33) years. One year survival rate was 84.7 % (61/72 patients), with severe disability (mRS 5) in 78.6 % (<em>n</em> = 48) of survivors. At follow up, 60 patients (83.3 %) had poor outcome (mRS 6, 38.9 %, <em>n</em> = 28; mRS 5, 31.9 %, <em>n</em> = 23; mRS 4, 12.5 %, <em>n</em> = 9) and 12 patients (16.7 %) had favorable clinical outcome (mRS 2 and 3). Patients with favorable outcomes had normal imaging or subcortical involvement without diffusion restriction. Diffuse cortical and deep grey involvement, diffuse cortical white matter involvement, cerebellar involvement and brain stem involvement had worse prognosis.</div></div><div><h3>Conclusion</h3><div>HIE has an overall poor outcome in 83.3 % of the patients. Focal findings on MRI may have a slightly better prognosis than diffuse findings.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"18 ","pages":"Article 100217"},"PeriodicalIF":0.0,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143791860","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 : 2025-03-26DOI: 10.1016/j.dscb.2025.100215
Alise Skoromka , Sandis Kovaļovs
Background
Oculogyric crises have been less commonly reported in KCNQ2-related disorders. This case report aims to illustrate the clinical variability of KCNQ2-related disorders and emphasize the importance of genetic diagnostics in neonatal epilepsy.
Objective
To present a unique case of self-limited familial neonatal epilepsy associated with an inherited KCNQ2 mutation, highlighting the occurrence of oculogyric crises.
Methods
Clinical evaluation, electroencephalography, magnetic resonance imaging, and genetic testing via whole-exome sequencing was utilized.
Results
A female infant exhibited early-onset seizures and atypical oculogyric crises. Genetic analysis revealed a pathogenic KCNQ2 duplication inherited from the mother. Treatment with valproic acid led to seizure control, and follow-up demonstrated normal psychomotor development.
Conclusion
This case underscores the phenotypic variability of KCNQ2-related disorders and the role of genetic testing in refining diagnosis and management.
{"title":"Early-onset oculogyric crises in an infant with self-limited familial neonatal epilepsy : A case report","authors":"Alise Skoromka , Sandis Kovaļovs","doi":"10.1016/j.dscb.2025.100215","DOIUrl":"10.1016/j.dscb.2025.100215","url":null,"abstract":"<div><h3>Background</h3><div>Oculogyric crises have been less commonly reported in KCNQ2-related disorders. This case report aims to illustrate the clinical variability of KCNQ2-related disorders and emphasize the importance of genetic diagnostics in neonatal epilepsy.</div></div><div><h3>Objective</h3><div>To present a unique case of self-limited familial neonatal epilepsy associated with an inherited KCNQ2 mutation, highlighting the occurrence of oculogyric crises.</div></div><div><h3>Methods</h3><div>Clinical evaluation, electroencephalography, magnetic resonance imaging, and genetic testing via whole-exome sequencing was utilized.</div></div><div><h3>Results</h3><div>A female infant exhibited early-onset seizures and atypical oculogyric crises. Genetic analysis revealed a pathogenic KCNQ2 duplication inherited from the mother. Treatment with valproic acid led to seizure control, and follow-up demonstrated normal psychomotor development.</div></div><div><h3>Conclusion</h3><div>This case underscores the phenotypic variability of KCNQ2-related disorders and the role of genetic testing in refining diagnosis and management.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"18 ","pages":"Article 100215"},"PeriodicalIF":0.0,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143740030","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}
Neurons are essential for maintaining physiological balance, and abnormalities in neuronal activity or communication can lead to medical disorders. The term “neurodegenerative diseases” refers to a broad category of neurological disorders that affect different subsets of neurons in different functional anatomical systems. The term “neurodegenerative diseases” refers to a broad category of neurological disorders that affect different subsets of neurons in different functional anatomical systems. The Oregon R strain of Drosophila melanogaster was used in the study to examine the neuroprotective effects of Annona reticulata Linn. leaf extract against Paraquat-induced neurotoxicity. As per the results of the phytochemical analysis, the Annona reticulata Linn aqueous leaf extract included many phytochemicals like flavanones, phenols, steroids, quinones, coumarins, and flavonoids. Pursuit a toxicity test on the Drosophila melanogaster Oregon R strain, the aqueous extract's antioxidant and neuroprotective activities were evaluated after choosing the ideal paraquat concentration to cause neurodegeneration in the flies. The extract improved the survival rates and greatly decreased locomotor impairment in the treated flies. Additionally, it demonstrated beneficial modulatory effects on the activity of antioxidant enzymes as well as ameliorative effects on the levels of oxidative stress indicators. However, further study is needed to fully understand the molecular pathways behind the extract's neuroprotective activity and to investigate its potential applicability as a medication.
{"title":"Evaluation of phytochemical composition of aqueous extract of Annona reticulata and assessment of its neuroprotective activity on Paraquat-induced neurodegeneration in Drosophila melanogaster Oregon R","authors":"Shubha, Vaibhavi Bhardwaj, Naomi Varghese, Sowmya Kumar","doi":"10.1016/j.dscb.2025.100214","DOIUrl":"10.1016/j.dscb.2025.100214","url":null,"abstract":"<div><div>Neurons are essential for maintaining physiological balance, and abnormalities in neuronal activity or communication can lead to medical disorders. The term “neurodegenerative diseases” refers to a broad category of neurological disorders that affect different subsets of neurons in different functional anatomical systems. The term “neurodegenerative diseases” refers to a broad category of neurological disorders that affect different subsets of neurons in different functional anatomical systems. The Oregon R strain of <em>Drosophila melanogaster</em> was used in the study to examine the neuroprotective effects of <em>Annona reticulata</em> Linn. leaf extract against Paraquat-induced neurotoxicity. As per the results of the phytochemical analysis, the Annona reticulata Linn aqueous leaf extract included many phytochemicals like flavanones, phenols, steroids, quinones, coumarins, and flavonoids. Pursuit a toxicity test on the <em>Drosophila melanogaster</em> Oregon R strain, the aqueous extract's antioxidant and neuroprotective activities were evaluated after choosing the ideal paraquat concentration to cause neurodegeneration in the flies. The extract improved the survival rates and greatly decreased locomotor impairment in the treated flies. Additionally, it demonstrated beneficial modulatory effects on the activity of antioxidant enzymes as well as ameliorative effects on the levels of oxidative stress indicators. However, further study is needed to fully understand the molecular pathways behind the extract's neuroprotective activity and to investigate its potential applicability as a medication.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"18 ","pages":"Article 100214"},"PeriodicalIF":0.0,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143739913","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}
Children with cerebral palsy (CP) often face challenges in motor function, balance, and daily activities. While land-based therapies such as the Bobath concept are widely used, complementary water-based therapies, including the Halliwick concept, offer unique opportunities to enhance rehabilitation outcomes.
Objective
This study aimed to evaluate the effectiveness of Halliwick concept hydrotherapy on gross motor function, balance, speed, and daily life skills in children with CP. A secondary objective was to compare the combined intervention of Halliwick hydrotherapy and Bobath therapy (NDT) with Bobath therapy (NDT)alone.
Methods
A total of 80 children with CP (mean age: 7.53 years) participated in this 9-month long randomised controlled trial. Participants were divided into three groups: the intervention group (n = 40), which received one session per week of both Halliwick hydrotherapy and Bobath therapy; control group 1 (n = 35), which received two sessions of Bobath therapy (NDT)per week; and control group 2 (n = 5), which did not receive any intervention. Two-way repeated measures ANOVA was conducted to compare the GMFM, PEDI, PBS, and TUG between time and groups, while a paired t-test to assess water-based (WOTA 1 & 2, SWIM, HAAR) through time.
Results
Statistically significant improvements were observed in the intervention group when compared with control groups across all measures. The intervention group demonstrated greater gains in gross motor function, balance, daily activities, and speed, using the TUG test, compared to control group 1, with minimal changes observed in control group 2. Notable improvements included increased GMFM scores (6points improvement in the intervention group compared to 3.36 in control group 1(Wilks's Lambda = 0.807, F = 9.222, partial η2 = 0.193, p < 0.001)), balance (PBS: +3.8 points(Wilks's Lambda = 0.778, F = 11.002, partial η2 = 0.222, p < 0.001)), and daily activities (PEDI: +6.32 points(Wilks's Lambda = 0.849, F = 6.854, partial η2 = 0.151, p = 0.002)). Water-based assessments further highlighted substantial improvements in aquatic skills.
Conclusion
Incorporating Halliwick hydrotherapy into rehabilitation programs for children with CP yields significant benefits, enhancing motor skills, balance, and daily functioning beyond what is achieved with land-based interventions alone. These findings highlight the importance of integrating complementary aquatic therapies into routine clinical practice for children with CP. Further research with larger, homogeneous samples and extended intervention durations is recommended to refine these therapeutic approaches.
背景:脑瘫儿童经常面临运动功能、平衡和日常活动方面的挑战。虽然Bobath概念等陆地疗法被广泛使用,但包括Halliwick概念在内的互补水基疗法为提高康复效果提供了独特的机会。目的本研究旨在评估哈利威克水疗法对CP儿童大运动功能、平衡、速度和日常生活技能的影响。第二个目的是比较哈利威克水疗法和浴缸疗法(NDT)联合干预与单独浴缸疗法(NDT)的效果。方法共80例CP患儿(平均年龄7.53岁)参加为期9个月的随机对照试验。参与者被分为三组:干预组(n = 40),每周接受一次Halliwick水疗和Bobath水疗;对照组1 (n = 35),每周接受两次Bobath疗法(NDT);对照组2 (n = 5)不进行任何干预。采用双向重复测量方差分析比较时间和组间的GMFM、PEDI、PBS和TUG,采用配对t检验评估水基(wota1 &;游泳,穿越时间。结果与对照组相比,干预组在所有指标上均有统计学上的显著改善。通过TUG测试,与对照组1相比,干预组在大运动功能、平衡、日常活动和速度方面表现出更大的进步,而对照组2的变化很小。显著改善包括GMFM评分增加(干预组提高6分,对照组提高3.36分)(Wilks’s Lambda = 0.807, F = 9.222,偏η2 = 0.193, p <;0.001)),平衡(PBS: +3.8点(Wilks’s Lambda = 0.778, F = 11.002, partial η2 = 0.222, p <;0.001)和日常活动(PEDI: +6.32点(Wilks’s Lambda = 0.849, F = 6.854,偏η2 = 0.151, p = 0.002))。基于水的评估进一步强调了水生技能的重大改进。结论:将哈利威克水疗纳入儿童脑瘫的康复计划中,可以显著提高运动技能、平衡能力和日常功能,而不仅仅是陆地干预。这些发现强调了将补充水生疗法整合到CP儿童常规临床实践中的重要性。建议采用更大、均匀样本和延长干预时间的进一步研究来完善这些治疗方法。
{"title":"The effectiveness of the Halliwick concept hydrotherapy and Bobath (Neurodevelopmental Treatment-NDT) in the treatment of children with cerebral palsy–A randomised controlled trial","authors":"Konstantinos Chandolias , Eleni Argyroula Tsounia , Nikolaos Strimpakos , Efthalia Zogka , Thomas Besios , Georgios Marios Kyriakatis , Panagiotis Tsimeas , Athanasios Tsiokanos","doi":"10.1016/j.dscb.2025.100213","DOIUrl":"10.1016/j.dscb.2025.100213","url":null,"abstract":"<div><h3>Background</h3><div>Children with cerebral palsy (CP) often face challenges in motor function, balance, and daily activities. While land-based therapies such as the Bobath concept are widely used, complementary water-based therapies, including the Halliwick concept, offer unique opportunities to enhance rehabilitation outcomes.</div></div><div><h3>Objective</h3><div>This study aimed to evaluate the effectiveness of Halliwick concept hydrotherapy on gross motor function, balance, speed, and daily life skills in children with CP. A secondary objective was to compare the combined intervention of Halliwick hydrotherapy and Bobath therapy (NDT) with Bobath therapy (NDT)alone.</div></div><div><h3>Methods</h3><div>A total of 80 children with CP (mean age: 7.53 years) participated in this 9-month long randomised controlled trial. Participants were divided into three groups: the intervention group (<em>n</em> = 40), which received one session per week of both Halliwick hydrotherapy and Bobath therapy; control group 1 (<em>n</em> = 35), which received two sessions of Bobath therapy (NDT)per week; and control group 2 (<em>n</em> = 5), which did not receive any intervention. Two-way repeated measures ANOVA was conducted to compare the GMFM, PEDI, PBS, and TUG between time and groups, while a paired <em>t</em>-test to assess water-based (WOTA 1 & 2, SWIM, HAAR) through time.</div></div><div><h3>Results</h3><div>Statistically significant improvements were observed in the intervention group when compared with control groups across all measures. The intervention group demonstrated greater gains in gross motor function, balance, daily activities, and speed, using the TUG test, compared to control group 1, with minimal changes observed in control group 2. Notable improvements included increased GMFM scores (6points improvement in the intervention group compared to 3.36 in control group 1(Wilks's Lambda = 0.807, <em>F</em> = 9.222, partial η<sup>2</sup> = 0.193, <em>p</em> < 0.001)), balance (PBS: +3.8 points(Wilks's Lambda = 0.778, <em>F</em> = 11.002, partial η<sup>2</sup> = 0.222, <em>p</em> < 0.001)), and daily activities (PEDI: +6.32 points(Wilks's Lambda = 0.849, <em>F</em> = 6.854, partial η<sup>2</sup> = 0.151, <em>p</em> = 0.002)). Water-based assessments further highlighted substantial improvements in aquatic skills.</div></div><div><h3>Conclusion</h3><div>Incorporating Halliwick hydrotherapy into rehabilitation programs for children with CP yields significant benefits, enhancing motor skills, balance, and daily functioning beyond what is achieved with land-based interventions alone. These findings highlight the importance of integrating complementary aquatic therapies into routine clinical practice for children with CP. Further research with larger, homogeneous samples and extended intervention durations is recommended to refine these therapeutic approaches.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"18 ","pages":"Article 100213"},"PeriodicalIF":0.0,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143681300","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 : 2025-03-15DOI: 10.1016/j.dscb.2025.100211
Chang-Ha Im , Jinsung Wang , Yong-Gwan Song
The objective of this study was to compare coordination deficits between Parkinson's disease (PD) and cerebellar dysfunction (CD) patients during in- and anti-phase bilateral movements with their forearms. 48 participants were divided into four groups: recently diagnosed (de novo) PD patients; PD patients with an advanced stage of the disease; CD patients; age-matched controls. All participants performed in-phase and anti-phase bilateral coordination movements at two pacing frequencies (1 and 1.55 Hz). For interlimb coordination, relative phasing accuracy was measured; for individual limb movements, oscillation frequency, movement amplitude and harmonicity (smoothness) of each limb movement were examined. Results indicated that advanced PD patients showed larger relative phasing deviations than all other groups, but only at the higher pacing frequency in the anti-phase mode; de novo PD and CD patients were not different from controls. Regarding oscillation frequency, no patient group could move in synchrony with required pacing frequency as well as the controls. Both controls and CD patients tended to overshoot the target, while both PD groups undershot the target. In terms of movement smoothness, CD patients were the worst. These findings suggest that the basal ganglia and the cerebellum pathology may affect bilateral coordination differently: motor deficits observed during bilateral coordination tasks in PD patients may be related more directly to the deficits in interlimb coordination, while those observed in CD patients may be related more to the deficits in inter-joint coordination within each limb, which in turn may affect interlimb coordination during bilateral tasks.
{"title":"Differential effects of cerebellar and basal ganglia pathology on the coordination of bilateral arm movements","authors":"Chang-Ha Im , Jinsung Wang , Yong-Gwan Song","doi":"10.1016/j.dscb.2025.100211","DOIUrl":"10.1016/j.dscb.2025.100211","url":null,"abstract":"<div><div>The objective of this study was to compare coordination deficits between Parkinson's disease (PD) and cerebellar dysfunction (CD) patients during in- and anti-phase bilateral movements with their forearms. 48 participants were divided into four groups: recently diagnosed (de novo) PD patients; PD patients with an advanced stage of the disease; CD patients; age-matched controls. All participants performed in-phase and anti-phase bilateral coordination movements at two pacing frequencies (1 and 1.55 Hz). For interlimb coordination, relative phasing accuracy was measured; for individual limb movements, oscillation frequency, movement amplitude and harmonicity (smoothness) of each limb movement were examined. Results indicated that advanced PD patients showed larger relative phasing deviations than all other groups, but only at the higher pacing frequency in the anti-phase mode; de novo PD and CD patients were not different from controls. Regarding oscillation frequency, no patient group could move in synchrony with required pacing frequency as well as the controls. Both controls and CD patients tended to overshoot the target, while both PD groups undershot the target. In terms of movement smoothness, CD patients were the worst. These findings suggest that the basal ganglia and the cerebellum pathology may affect bilateral coordination differently: motor deficits observed during bilateral coordination tasks in PD patients may be related more directly to the deficits in interlimb coordination, while those observed in CD patients may be related more to the deficits in inter-joint coordination within each limb, which in turn may affect interlimb coordination during bilateral tasks.</div></div>","PeriodicalId":72447,"journal":{"name":"Brain disorders (Amsterdam, Netherlands)","volume":"18 ","pages":"Article 100211"},"PeriodicalIF":0.0,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143643097","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}