Pub Date : 2025-10-01DOI: 10.17712/nsj.2025.4.20240062
Madaniah O Zakari
Anxiety disorders are psychiatric ailments that affect people throughout the world. Several studies have revealed that the development of anxiety is affected by changes in glutamatergic neurotransmission. Metabotropic glutamate receptors (mGluRs) can be allosterically modified, offering a new strategy for developing specific therapeutic agents that affect the cell membrane. Allosteric modulators have many advantages over other therapeutic options. In the field of stress treatment modulation, they can maintain the properties of natural glutamatergic neurotransmission. This review describes the design of allosteric modulators and the advantages of this class of compounds over current stress drugs.
{"title":"Metabotropic glutamate receptors: Allosteric structural modulation and new treatments for anxiety disorders.","authors":"Madaniah O Zakari","doi":"10.17712/nsj.2025.4.20240062","DOIUrl":"10.17712/nsj.2025.4.20240062","url":null,"abstract":"<p><p>Anxiety disorders are psychiatric ailments that affect people throughout the world. Several studies have revealed that the development of anxiety is affected by changes in glutamatergic neurotransmission. Metabotropic glutamate receptors (mGluRs) can be allosterically modified, offering a new strategy for developing specific therapeutic agents that affect the cell membrane. Allosteric modulators have many advantages over other therapeutic options. In the field of stress treatment modulation, they can maintain the properties of natural glutamatergic neurotransmission. This review describes the design of allosteric modulators and the advantages of this class of compounds over current stress drugs.</p>","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"30 4","pages":"255-261"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12676932/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145605379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objectives: To evaluate the impact of QHN combined with FH versus FH monotherapy on vestibular migraine (VM) METHODS: The study included patients treated for VM with either QHN+FH or FH alone between September 2022 and September 2023 at The First Affiliated Hospital of Guangdong Pharmaceutical University in Guangzhou, Guangdong Province, China. The primary outcome was the change of Dizziness Handicap Inventory (DHI) before and after 8 weeks of treatment. Secondary outcomes included changes in the Video Head Impulse Test (v-HIT) results before and after 8 weeks of treatment, and the recurrence of vertigo attacks at 4 and 8 weeks post-treatment.
Results: This study included 59 patients, with 29 receiving QHN+FH treatment and 30 receiving FH monotherapy. Both the QHN+FH and FH groups showed significant reductions in DHI scores before and after treatment. After treatment, the QHN+FH group demonstrated an improvement in v-HIT (0.74±0.14 vs. 0.64±0.14, p<0.05), while the FH group showed no significant changes. At 4 weeks, the recurrence rate of vertigo in the QHN+FH group was lower than that in the FH group (13.79% vs. 43.33%), and at 8 weeks, it remained lower (34.48% vs. 53.33%).
Conclusion: This study suggested that QHN combined with FH might had a potential advantage in improving treatment outcomes and reducing short-term recurrence of vertigo in VM patients.
目的:评估QHN联合FH与FH单药治疗前庭偏头痛(VM)的影响。方法:该研究纳入了2022年9月至2023年9月在中国广东省广州市广东药科大学第一附属医院接受QHN+FH或FH单独治疗VM的患者。主要观察指标为治疗前后头晕障碍量表(DHI)的变化。次要结果包括治疗前和治疗后8周视频头部脉冲测试(v-HIT)结果的变化,以及治疗后4周和8周眩晕发作的复发。结果:本研究纳入59例患者,其中QHN+FH治疗29例,FH单药治疗30例。QHN+FH组和FH组治疗前后DHI评分均显著降低。治疗后,QHN+FH组显示v-HIT改善(0.74±0.14 vs. 0.64±0.14)。结论:本研究提示QHN联合FH可能在改善VM患者治疗结果和减少眩晕短期复发方面具有潜在优势。
{"title":"Impact of Qihuang needle therapy combined with flunarizine hydrochloride for vertigo in vestibular migraine.","authors":"Dan-Ping Chen, Chao-Jie Yang, Zhong-Xing Peng, Zhi-Hua Zhou, Rong-Jiao You, Xin-Yu Li, Ai-Qun Liu, Zhen-Hu Chen","doi":"10.17712/nsj.2025.4.20240142","DOIUrl":"10.17712/nsj.2025.4.20240142","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the impact of QHN combined with FH versus FH monotherapy on vestibular migraine (VM) METHODS: The study included patients treated for VM with either QHN+FH or FH alone between September 2022 and September 2023 at The First Affiliated Hospital of Guangdong Pharmaceutical University in Guangzhou, Guangdong Province, China. The primary outcome was the change of Dizziness Handicap Inventory (DHI) before and after 8 weeks of treatment. Secondary outcomes included changes in the Video Head Impulse Test (v-HIT) results before and after 8 weeks of treatment, and the recurrence of vertigo attacks at 4 and 8 weeks post-treatment.</p><p><strong>Results: </strong>This study included 59 patients, with 29 receiving QHN+FH treatment and 30 receiving FH monotherapy. Both the QHN+FH and FH groups showed significant reductions in DHI scores before and after treatment. After treatment, the QHN+FH group demonstrated an improvement in v-HIT (0.74±0.14 vs. 0.64±0.14, <i>p</i><0.05), while the FH group showed no significant changes. At 4 weeks, the recurrence rate of vertigo in the QHN+FH group was lower than that in the FH group (13.79% vs. 43.33%), and at 8 weeks, it remained lower (34.48% vs. 53.33%).</p><p><strong>Conclusion: </strong>This study suggested that QHN combined with FH might had a potential advantage in improving treatment outcomes and reducing short-term recurrence of vertigo in VM patients.</p>","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"30 4","pages":"271-277"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12676910/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145605417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Are patients undergoing surgery for early-stage cancer at risk of persistent opioid use?","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"30 4","pages":"313"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12676934/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145605280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"BREASTFEEDING IN INDONESIA ON THE RISE, BUT MOTHERS NEED MORE SUPPORT.","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"30 4","pages":"315-316"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12676933/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145605404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-01DOI: 10.17712/nsj.2025.4.20250054
Abdullah I Alhusayni
Multiple sclerosis (MS) is a chronic autoimmune disorder characterized by neuroinflammation and progressive neurodegeneration, leading to significant physical and cognitive impairments. Rehabilitation, particularly physical therapy, has emerged as a crucial component in managing MS-related disability by improving mobility, reducing fatigue, and enhancing overall quality of life. This narrative review investigates current international guidelines on physical therapy and rehabilitation for MS. Literature search in databases (January 2010 until August 2025) resulted in three guidelines that met the inclusion criteria. Evidence suggests that structured aerobic and resistance training programmes, combined with balance and flexibility exercises, contribute significantly to maintaining functional independence. Additionally, assistive technologies offer promising advances in patient-centred care. However, challenges such as limited accessibility, variability in disease presentation, and adherence to rehabilitation programmes pose significant barriers. This narrative review highlights the need for comprehensive and multidisciplinary clinical guidelines to optimize physical therapy interventions and improve the long-term well-being of MS patients.
{"title":"A narrative review of clinical practice guidelines for the application of physical therapy and rehabilitation procedures in the management of multiple sclerosis.","authors":"Abdullah I Alhusayni","doi":"10.17712/nsj.2025.4.20250054","DOIUrl":"10.17712/nsj.2025.4.20250054","url":null,"abstract":"<p><p>Multiple sclerosis (MS) is a chronic autoimmune disorder characterized by neuroinflammation and progressive neurodegeneration, leading to significant physical and cognitive impairments. Rehabilitation, particularly physical therapy, has emerged as a crucial component in managing MS-related disability by improving mobility, reducing fatigue, and enhancing overall quality of life. This narrative review investigates current international guidelines on physical therapy and rehabilitation for MS. Literature search in databases (January 2010 until August 2025) resulted in three guidelines that met the inclusion criteria. Evidence suggests that structured aerobic and resistance training programmes, combined with balance and flexibility exercises, contribute significantly to maintaining functional independence. Additionally, assistive technologies offer promising advances in patient-centred care. However, challenges such as limited accessibility, variability in disease presentation, and adherence to rehabilitation programmes pose significant barriers. This narrative review highlights the need for comprehensive and multidisciplinary clinical guidelines to optimize physical therapy interventions and improve the long-term well-being of MS patients.</p>","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"30 4","pages":"262-270"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12676939/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145605308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-01DOI: 10.17712/nsj.2025.4.20240134
Hasan M Al-Dorzi, Eman Balahmar, Razan A Almulhem, Raghad A Almutairi, Danah H Aleesa, Dareen S Ashgar, Nazish Masud
Objectives: Status epilepticus (SE) is a serious neurological condition with a high risk of complications and mortality. We described adult patients who required admission to the intensive care unit (ICU) for SE and assessed their prognosis.
Methods: We retrospectively analyzed consecutive adult ICU admissions for SE between 2016 and 2021. We performed multivariable logistic regression to determine the predictors of an unfavorable outcome (discharge Glasgow Coma Scale <14 or death).
Results: We studied 115 patients (median age 38 years; males 62.6%; prior antiepileptic therapy 59.1%; median presenting Glasgow Coma Scale 7; median Status Epilepticus Severity Score 4). Brain computed tomography revealed acute/sub-acute stroke in 5.2% of cases, intracranial hemorrhage in 2.6%, and brain tumors in 5.2%. Cerebrospinal fluid analysis in 41 patients detected bacteria or herpes simplex virus in 4. Intravenous lorazepam was used to abort seizures in 80.0% of patients (median dose 3 mg). Mechanical ventilation was needed for 87 patients for a median of 4 days. Thirty-five patients (30.4%) experienced an unfavorable outcome, and hospital mortality was 5.2%. Infections present on admission were associated with an unfavorable outcome (odds ratio 3.61, 95% confidence interval 1.35-9.63).
Conclusion: Most ICU admissions for SE involved young patients with few having abnormalities on brain imaging and cerebrospinal fluid and most needing intubation. Hospital mortality was 5.2% with the presence of an infection on admission linked to an unfavorable outcome.
{"title":"An observational study on the clinical profile, management approaches, and outcomes of adult patients admitted to the intensive care unit for status epilepticus.","authors":"Hasan M Al-Dorzi, Eman Balahmar, Razan A Almulhem, Raghad A Almutairi, Danah H Aleesa, Dareen S Ashgar, Nazish Masud","doi":"10.17712/nsj.2025.4.20240134","DOIUrl":"10.17712/nsj.2025.4.20240134","url":null,"abstract":"<p><strong>Objectives: </strong>Status epilepticus (SE) is a serious neurological condition with a high risk of complications and mortality. We described adult patients who required admission to the intensive care unit (ICU) for SE and assessed their prognosis.</p><p><strong>Methods: </strong>We retrospectively analyzed consecutive adult ICU admissions for SE between 2016 and 2021. We performed multivariable logistic regression to determine the predictors of an unfavorable outcome (discharge Glasgow Coma Scale <14 or death).</p><p><strong>Results: </strong>We studied 115 patients (median age 38 years; males 62.6%; prior antiepileptic therapy 59.1%; median presenting Glasgow Coma Scale 7; median Status Epilepticus Severity Score 4). Brain computed tomography revealed acute/sub-acute stroke in 5.2% of cases, intracranial hemorrhage in 2.6%, and brain tumors in 5.2%. Cerebrospinal fluid analysis in 41 patients detected bacteria or herpes simplex virus in 4. Intravenous lorazepam was used to abort seizures in 80.0% of patients (median dose 3 mg). Mechanical ventilation was needed for 87 patients for a median of 4 days. Thirty-five patients (30.4%) experienced an unfavorable outcome, and hospital mortality was 5.2%. Infections present on admission were associated with an unfavorable outcome (odds ratio 3.61, 95% confidence interval 1.35-9.63).</p><p><strong>Conclusion: </strong>Most ICU admissions for SE involved young patients with few having abnormalities on brain imaging and cerebrospinal fluid and most needing intubation. Hospital mortality was 5.2% with the presence of an infection on admission linked to an unfavorable outcome.</p>","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"30 4","pages":"286-293"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145605338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"ARE PATIENTS WITH ADVANCED CANCER RECEIVING TREATMENT ALIGNED WITH THEIR GOALS?","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"30 4","pages":"312-313"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12676909/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145605349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-01DOI: 10.17712/nsj.2025.4.20250011
Alia Mr Fallatah, Malak R Albadrani, Sarah A Alsalman, Weam K Almasuad, Abdulrahim M Hamhom, Sumayah M Almarshedy, Faisal A Alsallom, Fawzya A Bamogaddam, Majed H Alhameed, Mubarak M Aldosari
Objectives: To determine the prevalence of fatigue and depression in patients with epilepsy (PWE), explore their relationship, and identify the factors associated with fatigue in this population.
Methods: This retrospective cross-sectional study involved adult PWE at King Fahad Medical City, Riyadh, Saudi Arabia, from April to July 2023. The Arabic version of the Fatigue Severity Scale questionnaire was used to estimate the presence and severity of fatigue. The Patient Health Questionnaire-9 was used for screening depression. The demographic and clinical data of the patients were analyzed.
Results: In total, 259 PWE were enrolled. Of these, 66.8% had focal epilepsy and 39.7% had controlled seizures. Fatigue was prevalent in 34.4% of PWE, of whom only 10% had no depression. Significant correlations were observed between fatigue and female sex (p=0.002), uncontrolled seizures (p<0.001), and missed medication doses (p=0.03). Additionally, a considerable positive correlation was observed between fatigue and depression scores (r=0.5, p<0.001).
Conclusion: Fatigue is prevalent among PWE. This study emphasizes the importance of assessing and managing fatigue and depression to improve the quality of life (QOL) of PWE. Further research in larger populations is recommended to identify the predictors and effective management strategies for fatigue in PWE.
{"title":"Beyond Seizures: The hidden burden of fatigue in epilepsy.","authors":"Alia Mr Fallatah, Malak R Albadrani, Sarah A Alsalman, Weam K Almasuad, Abdulrahim M Hamhom, Sumayah M Almarshedy, Faisal A Alsallom, Fawzya A Bamogaddam, Majed H Alhameed, Mubarak M Aldosari","doi":"10.17712/nsj.2025.4.20250011","DOIUrl":"10.17712/nsj.2025.4.20250011","url":null,"abstract":"<p><strong>Objectives: </strong>To determine the prevalence of fatigue and depression in patients with epilepsy (PWE), explore their relationship, and identify the factors associated with fatigue in this population.</p><p><strong>Methods: </strong>This retrospective cross-sectional study involved adult PWE at King Fahad Medical City, Riyadh, Saudi Arabia, from April to July 2023. The Arabic version of the Fatigue Severity Scale questionnaire was used to estimate the presence and severity of fatigue. The Patient Health Questionnaire-9 was used for screening depression. The demographic and clinical data of the patients were analyzed.</p><p><strong>Results: </strong>In total, 259 PWE were enrolled. Of these, 66.8% had focal epilepsy and 39.7% had controlled seizures. Fatigue was prevalent in 34.4% of PWE, of whom only 10% had no depression. Significant correlations were observed between fatigue and female sex (<i>p</i>=0.002), uncontrolled seizures (<i>p</i><0.001), and missed medication doses (<i>p</i>=0.03). Additionally, a considerable positive correlation was observed between fatigue and depression scores (r=0.5, <i>p</i><0.001).</p><p><strong>Conclusion: </strong>Fatigue is prevalent among PWE. This study emphasizes the importance of assessing and managing fatigue and depression to improve the quality of life (QOL) of PWE. Further research in larger populations is recommended to identify the predictors and effective management strategies for fatigue in PWE.</p>","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"30 4","pages":"278-285"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12707333/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145605371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-01DOI: 10.17712/nsj.2025.4.20240140
Mohammed H Bogari, Jalal A Zahhar, Alwaleed K Aloufi, Omar H Algahtani, Yossef A Zahhar, Hussin M Kheshaifati, Abdulhadi Y Algahtani
Objectives: To address the gap in understanding post-surgical quality of life, depression, and anxiety among brain tumor patients in Saudi Arabia.
Methods: This cross-sectional study was conducted at King Abdulaziz Medical City in Jeddah, Kingdom of Saudi Arabia. A total of 160 adult brain tumor patients who underwent surgical resection between January 2021 and October 2024 were included. Quality of life (QoL) was assessed using the Functional Assessment of Chronic Illness Therapy (FACIT) questionnaire, and anxiety and depression were measured using the Hospital Anxiety and Depression Scale (HADS).
Results: Among the 160 patients, high-grade gliomas were the most common tumor type (35%), followed by meningiomas (27.5%). WHO grade 4 tumors were most prevalent (43.12%), followed by grade 1 (35.62%). Patients with high-grade gliomas and metastatic tumors reported the lowest QoL scores. Interestingly, low-grade glioma patients showed higher levels of anxiety (44.4%) and depression (33.3%). In contrast, patients with meningiomas and pituitary adenomas had better QoL outcomes.
Conclusion: Patients with high-grade gliomas experienced poorer QoL postoperatively. However, good QoL is still achievable, particularly among those with benign tumors such as meningiomas and pituitary adenomas.
{"title":"Quality of life, depression, and anxiety in brain tumor patients following surgical resection at a tertiary care center.","authors":"Mohammed H Bogari, Jalal A Zahhar, Alwaleed K Aloufi, Omar H Algahtani, Yossef A Zahhar, Hussin M Kheshaifati, Abdulhadi Y Algahtani","doi":"10.17712/nsj.2025.4.20240140","DOIUrl":"10.17712/nsj.2025.4.20240140","url":null,"abstract":"<p><strong>Objectives: </strong>To address the gap in understanding post-surgical quality of life, depression, and anxiety among brain tumor patients in Saudi Arabia.</p><p><strong>Methods: </strong>This cross-sectional study was conducted at King Abdulaziz Medical City in Jeddah, Kingdom of Saudi Arabia. A total of 160 adult brain tumor patients who underwent surgical resection between January 2021 and October 2024 were included. Quality of life (QoL) was assessed using the Functional Assessment of Chronic Illness Therapy (FACIT) questionnaire, and anxiety and depression were measured using the Hospital Anxiety and Depression Scale (HADS).</p><p><strong>Results: </strong>Among the 160 patients, high-grade gliomas were the most common tumor type (35%), followed by meningiomas (27.5%). WHO grade 4 tumors were most prevalent (43.12%), followed by grade 1 (35.62%). Patients with high-grade gliomas and metastatic tumors reported the lowest QoL scores. Interestingly, low-grade glioma patients showed higher levels of anxiety (44.4%) and depression (33.3%). In contrast, patients with meningiomas and pituitary adenomas had better QoL outcomes.</p><p><strong>Conclusion: </strong>Patients with high-grade gliomas experienced poorer QoL postoperatively. However, good QoL is still achievable, particularly among those with benign tumors such as meningiomas and pituitary adenomas.</p>","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"30 4","pages":"294-303"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12707334/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145605376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-10-01DOI: 10.17712/nsj.2021.4.20250058
Aiman S Alhazmi, Areej A Alhareeri, Ali S Alhawas, Essam W Jameel, Faisal S Aleisa, Muteb M Alqahtani, Mutrik J Almughni, Mohammed A Almuqbil
Objectives: To identify the genetic landscape of CMT in Saudi Arabia.
Methods: This retrospective cohort study included 43 patients diagnosed with CMT between 2016 and 2022 at National Guard Health Affairs hospitals in three cities. All CMT cases with a genetic diagnosis were included.
Results: Genetic testing was conducted in 23 out of 43 CMT cases (53%), and clinically relevant genetic variants associated with CMT were identified in 17 of 23 patients (73.9%). The most common genes in the cohort were MTMR2, PMP22, and FGD4, with notable intra-tribe mutations suggesting a strong influence of consanguinity. The predominant mode of inheritance was autosomal recessive CMT1, affecting 12 out of 17 cases (70.6%). Five novel variants associated with CMT were identified in MTMR2, PRX, SBF1, and HSPB8.
Conclusion: This study reveals a distinct genetic profile of CMT in the Saudi population, with a higher prevalence of autosomal recessive forms of the disease compared to other populations. The findings highlight the importance of incorporating genetic testing into routine clinical practice, particularly in populations with high consanguinity rates.
{"title":"Genetic profile of Charcot-Marie-Tooth disease in the Saudi population: A retrospective study highlighting the role of consanguinity.","authors":"Aiman S Alhazmi, Areej A Alhareeri, Ali S Alhawas, Essam W Jameel, Faisal S Aleisa, Muteb M Alqahtani, Mutrik J Almughni, Mohammed A Almuqbil","doi":"10.17712/nsj.2021.4.20250058","DOIUrl":"10.17712/nsj.2021.4.20250058","url":null,"abstract":"<p><strong>Objectives: </strong>To identify the genetic landscape of CMT in Saudi Arabia.</p><p><strong>Methods: </strong>This retrospective cohort study included 43 patients diagnosed with CMT between 2016 and 2022 at National Guard Health Affairs hospitals in three cities. All CMT cases with a genetic diagnosis were included.</p><p><strong>Results: </strong>Genetic testing was conducted in 23 out of 43 CMT cases (53%), and clinically relevant genetic variants associated with CMT were identified in 17 of 23 patients (73.9%). The most common genes in the cohort were <i>MTMR2</i>, <i>PMP22</i>, and <i>FGD4</i>, with notable intra-tribe mutations suggesting a strong influence of consanguinity. The predominant mode of inheritance was autosomal recessive CMT1, affecting 12 out of 17 cases (70.6%). Five novel variants associated with CMT were identified in <i>MTMR2</i>, <i>PRX</i>, <i>SBF1</i>, and <i>HSPB8</i>.</p><p><strong>Conclusion: </strong>This study reveals a distinct genetic profile of CMT in the Saudi population, with a higher prevalence of autosomal recessive forms of the disease compared to other populations. The findings highlight the importance of incorporating genetic testing into routine clinical practice, particularly in populations with high consanguinity rates.</p>","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"30 4","pages":"304-311"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12676911/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145605362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}