Pub Date : 2022-07-01DOI: 10.17712/nsj.2022.3.20220033
Qianqian Sha, Yu Xia, Xiya Shen, Ailian Du
15q11.2 BP1-BP2 microdeletion is related to clinical abnormalities including general developmental delay, speech and neuropsychiatric disorders, which is known as Angelman syndrome. However, the clinical penetrance and phenotype of 15q11.2 BP1-BP2 deletion is varied and confusing. Herein, we retrospectively described a 50-year-old male patient who manifested with progressive spastic paraplegia of lower limbs and episodic exacerbation. While brain MRI showed white matter hyperintensities, lacunes, cerebral microbleeds, enlarged perivascular spaces, and brain atrophy, mimicking small vessel disease. Next-generation sequencing combining multiplex ligation-dependent probe amplification identified a 253 kb 15q11.2 BP1-BP2 microdeletion, encompassing 4 conserved imprinted genes (NIPA1, NIPA2, CYFIP1 and TUBGCP5). This report will build new connections among spastic paraplegia, small vessel disease and 15q11.2 BP1-BP2 microdeletion.
{"title":"15q11.2 BP1-BP2 microdeletion presenting as progressive spastic paraplegia and brain images of small vessel disease","authors":"Qianqian Sha, Yu Xia, Xiya Shen, Ailian Du","doi":"10.17712/nsj.2022.3.20220033","DOIUrl":"https://doi.org/10.17712/nsj.2022.3.20220033","url":null,"abstract":"15q11.2 BP1-BP2 microdeletion is related to clinical abnormalities including general developmental delay, speech and neuropsychiatric disorders, which is known as Angelman syndrome. However, the clinical penetrance and phenotype of 15q11.2 BP1-BP2 deletion is varied and confusing. Herein, we retrospectively described a 50-year-old male patient who manifested with progressive spastic paraplegia of lower limbs and episodic exacerbation. While brain MRI showed white matter hyperintensities, lacunes, cerebral microbleeds, enlarged perivascular spaces, and brain atrophy, mimicking small vessel disease. Next-generation sequencing combining multiplex ligation-dependent probe amplification identified a 253 kb 15q11.2 BP1-BP2 microdeletion, encompassing 4 conserved imprinted genes (NIPA1, NIPA2, CYFIP1 and TUBGCP5). This report will build new connections among spastic paraplegia, small vessel disease and 15q11.2 BP1-BP2 microdeletion.","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"27 1","pages":"191 - 196"},"PeriodicalIF":0.9,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44912996","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}
Pub Date : 2022-07-01DOI: 10.17712/nsj.2022.3.20210109
Zhe Shi, Yonghui Wu, Lei Su, Ying Zhou, Lan Zhang, Da Xu, Yangang Xing
Objectives: To explore the relationship between the presence or parameters of right-to-left shunt (RLS) detected by c-TCD and attack clinical features in migraine patients with aura (MA+) or without aura (MA-). Methods: Migraine patients with aura and migraine patients without aura (MA-) were recruited consecutively. The RLS was assessed by a c-TCD examination. Results: A total of 528 migraine patients and 71 healthy were included. The prevalence of RLS especially of mild shunts was higher in patients with migraine. Patients of MA+ developed migraine earlier and experienced more severe pain, more frequent photophobia and phonophobia, although the yearly frequency, duration and degree of pain or type and size of shunt was similar. Moreover, patients with MA+ and RLS (MA+RLS+) also experienced more photophobia and phonophobia than that without RLS (MA+RLS-). The result was similar in MA-RLS+ group. Patients with moderate or massive of RLS experience longer duration of pain in both MA+RLS+ and MA-RLS+ groups. The sex distribution was only significantly different in MA+RLS+ group, in which women were more likely to suffer from RLS especially mild shunt. Conclusion: A higher prevalence and severity of RLS was found in the migraine patients, especially those with aura. MA+ patients develop earlier and experience more severe pain. The duration was consistent with the shunt size in both MA+RLS+ and MA-RLS+ groups.
{"title":"Relationship between right-to-left shunt detected by c-TCD and clinical characteristics in migraine patients","authors":"Zhe Shi, Yonghui Wu, Lei Su, Ying Zhou, Lan Zhang, Da Xu, Yangang Xing","doi":"10.17712/nsj.2022.3.20210109","DOIUrl":"https://doi.org/10.17712/nsj.2022.3.20210109","url":null,"abstract":"Objectives: To explore the relationship between the presence or parameters of right-to-left shunt (RLS) detected by c-TCD and attack clinical features in migraine patients with aura (MA+) or without aura (MA-). Methods: Migraine patients with aura and migraine patients without aura (MA-) were recruited consecutively. The RLS was assessed by a c-TCD examination. Results: A total of 528 migraine patients and 71 healthy were included. The prevalence of RLS especially of mild shunts was higher in patients with migraine. Patients of MA+ developed migraine earlier and experienced more severe pain, more frequent photophobia and phonophobia, although the yearly frequency, duration and degree of pain or type and size of shunt was similar. Moreover, patients with MA+ and RLS (MA+RLS+) also experienced more photophobia and phonophobia than that without RLS (MA+RLS-). The result was similar in MA-RLS+ group. Patients with moderate or massive of RLS experience longer duration of pain in both MA+RLS+ and MA-RLS+ groups. The sex distribution was only significantly different in MA+RLS+ group, in which women were more likely to suffer from RLS especially mild shunt. Conclusion: A higher prevalence and severity of RLS was found in the migraine patients, especially those with aura. MA+ patients develop earlier and experience more severe pain. The duration was consistent with the shunt size in both MA+RLS+ and MA-RLS+ groups.","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"27 1","pages":"143 - 149"},"PeriodicalIF":0.9,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46664020","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}
Pub Date : 2022-07-01DOI: 10.17712/nsj.2022.3.20210140
Ibrahim A. Alhalal, Hashem T. Al-Salman, A. A. Anazi
Lumboperitoneal (LP) shunt is considered as a unique procedure in neurosurgical practice. The over drainage of Cerebrospinal fluid (CSF) is considered a usual side effect of the procedure that usually manifests in the form of subdural collection, headache, or nausea and vomiting. However, cranial nerve palsy, particularly abducens nerve palsy, is a rare manifestation of CSF over drainage. We describe our experience with a patient that has developed bilateral sixth nerve palsy followed by LP shunt insertion, with resolution of the symptoms upon removal of the shunt. This shades the light on a rare but significant complication related to Lumboperitoneal (LP) shunt insertion that necessitate the modification in the hardware of valve or insertion technique to decrease the risk of CSF over the drainage.
{"title":"Bilateral sixth cranial nerve palsy following lumboperitoneal shunt","authors":"Ibrahim A. Alhalal, Hashem T. Al-Salman, A. A. Anazi","doi":"10.17712/nsj.2022.3.20210140","DOIUrl":"https://doi.org/10.17712/nsj.2022.3.20210140","url":null,"abstract":"Lumboperitoneal (LP) shunt is considered as a unique procedure in neurosurgical practice. The over drainage of Cerebrospinal fluid (CSF) is considered a usual side effect of the procedure that usually manifests in the form of subdural collection, headache, or nausea and vomiting. However, cranial nerve palsy, particularly abducens nerve palsy, is a rare manifestation of CSF over drainage. We describe our experience with a patient that has developed bilateral sixth nerve palsy followed by LP shunt insertion, with resolution of the symptoms upon removal of the shunt. This shades the light on a rare but significant complication related to Lumboperitoneal (LP) shunt insertion that necessitate the modification in the hardware of valve or insertion technique to decrease the risk of CSF over the drainage.","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"27 1","pages":"187 - 190"},"PeriodicalIF":0.9,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49112200","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}
Pub Date : 2022-07-01DOI: 10.17712/nsj.2022.3.20210058
Y. Malik, S. Karmastaji, Khulood K. AlJarman, Y. Abdelmajid, Muna H. Lootah, J. Dar, A. Almadani
Objectives: To assess the impact of the COVID-19 pandemic on migraineur’s quality of life and confounding factors. Methods: This is an observational cohort study conducted in Rashid hospital, Dubai Health Authority, UAE. Study was plotted to assess migraine indices in pre-COVID period, pre-pandemic and pandemic periods and to evaluate the pandemic induced paradigm shift in migraine management. Results: Out of 840 migraineurs 201 patients were selected, with an obvious female predominance (78%). Migraine without Aura was found in 70% and Migraine with Aura in 29.9%. Mean MIDAS score during period I, II and II was 22.78, 18.58 and 17.92 respectively indicating certain degree of improvement rather than deterioration during pandemic (p=0.001). Interestingly significant reduction in both migraine frequency and severity from pre-COVID to COVID period was noticed (p=0.01). Parameters like headache days/month, use of abortive therapy and Emergency visits also declined. Chronic migraine (CM) showed more improvement than episodic migraine (EM). Confounding factors like distance working and lack of social/professional stress mainly rendered this change. A modified strategy to handle headache during any pandemic/crisis can ensure quality management of migraine. Conclusion: Migraine patients had a resilient behavior during the COVID pandemic and showed significant improvement of all indices. Confounding factors like distance working played the most favorable role.
{"title":"Paradigm shift in migraine management impacted by COVID-19 pandemic and the role of confounding factors inflicting the change","authors":"Y. Malik, S. Karmastaji, Khulood K. AlJarman, Y. Abdelmajid, Muna H. Lootah, J. Dar, A. Almadani","doi":"10.17712/nsj.2022.3.20210058","DOIUrl":"https://doi.org/10.17712/nsj.2022.3.20210058","url":null,"abstract":"Objectives: To assess the impact of the COVID-19 pandemic on migraineur’s quality of life and confounding factors. Methods: This is an observational cohort study conducted in Rashid hospital, Dubai Health Authority, UAE. Study was plotted to assess migraine indices in pre-COVID period, pre-pandemic and pandemic periods and to evaluate the pandemic induced paradigm shift in migraine management. Results: Out of 840 migraineurs 201 patients were selected, with an obvious female predominance (78%). Migraine without Aura was found in 70% and Migraine with Aura in 29.9%. Mean MIDAS score during period I, II and II was 22.78, 18.58 and 17.92 respectively indicating certain degree of improvement rather than deterioration during pandemic (p=0.001). Interestingly significant reduction in both migraine frequency and severity from pre-COVID to COVID period was noticed (p=0.01). Parameters like headache days/month, use of abortive therapy and Emergency visits also declined. Chronic migraine (CM) showed more improvement than episodic migraine (EM). Confounding factors like distance working and lack of social/professional stress mainly rendered this change. A modified strategy to handle headache during any pandemic/crisis can ensure quality management of migraine. Conclusion: Migraine patients had a resilient behavior during the COVID pandemic and showed significant improvement of all indices. Confounding factors like distance working played the most favorable role.","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"27 1","pages":"156 - 163"},"PeriodicalIF":0.9,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45428982","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}
Pub Date : 2022-07-01DOI: 10.17712/nsj.2022.3.20210146
Tareef S Daqqaq, Ayman S. Alhasan
Objectives: To assess and compare the diagnostic accuracy, sensitivity and specificity of perfusion-weighted imaging (PWI) and positron emission tomography (PET) in distinguishing between treatment-related changes and tumor recurrence. Methods: We carried out a systematic review of PubMed, Embase, Web of Science, the Cochrane Library, and CINAHL databases from database inception until August 2021 for pertinent articles. Particular inclusion and exclusion criteria were applied to select the eligible studies. The Quality Assessment of Diagnostic Accuracy tool was used to assess the risk of bias and methodological quality of the eligible studies. From the included studies, the rate ratio (RR) of pooled accuracy, sensitivity, specificity and their corresponding confidence intervals (CIs) were estimated for both PWI and PET. Results: The systematic review and meta-analysis comprised 14 research studies, with a total of 542 patients. Although PET revealed a moderately higher accuracy and sensitivity when compared to PWI (RR: 0.94, 95% CI 0.86-1.02 and RR: 0.95 95% CI 0.85-1.06, respectively), the difference was not statistically significant (p>0.05). Similarly, while PWI demonstrated a moderately higher specificity when compared to PET (RR:1.10, 95% CI 0.98-1.23) but. However, no statistically significant difference between the 2 modalities was detected (p>0.05). Interestingly, we revealed that 18F-FET-PET was significantly more efficient than PWI in terms of accuracy (RR: 0.82, 95% CI 0.72-0.93) and sensitivity (RR: 0.72, 95% CI 0.62-0.83) (p>0.05). Conclusion: Both PET and PWI yielded good diagnostic performance in distinguishing treatment-related changes from tumor recurrence, and neither modality seemed to be superior. PROSPERO ID: CRD42021288160
目的：评估和比较灌注加权成像（PWI）和正电子发射断层扫描（PET）在区分治疗相关变化和肿瘤复发方面的诊断准确性、敏感性和特异性。方法：我们对PubMed、Embase、Web of Science、Cochrane Library和CINAHL数据库从数据库创建到2021年8月的相关文章进行了系统综述。采用特殊的纳入和排除标准来选择符合条件的研究。诊断准确性质量评估工具用于评估合格研究的偏倚风险和方法学质量。从纳入的研究中，对PWI和PET的合并准确性、敏感性、特异性及其相应的置信区间（CI）的比率比（RR）进行了估计。结果：系统综述和荟萃分析包括14项研究，共542名患者。尽管与PWI相比，PET显示出适度更高的准确性和敏感性（RR:0.94，95%CI 0.86-1.02和RR:0.95，95%CI为0.85-1.06），但差异无统计学意义（p>0.05）。同样，与PET相比，PWI显示出适度较高的特异性（RR:1.10，95%CI 0.98-1.23），但是。然而，两种模式之间没有统计学上的显著差异（p>0.05）。有趣的是，我们发现18F-FET-PET在准确性（RR:0.82，95%CI 0.72-0.93）和敏感性（RR:0.72，95%CI 0.62-0.83）方面显著高于PWI（p>0.05）。PROSPERO ID:CRD42021288160
{"title":"Positron emission tomography and perfusion weighted imaging in the detection of brain tumors recurrence","authors":"Tareef S Daqqaq, Ayman S. Alhasan","doi":"10.17712/nsj.2022.3.20210146","DOIUrl":"https://doi.org/10.17712/nsj.2022.3.20210146","url":null,"abstract":"Objectives: To assess and compare the diagnostic accuracy, sensitivity and specificity of perfusion-weighted imaging (PWI) and positron emission tomography (PET) in distinguishing between treatment-related changes and tumor recurrence. Methods: We carried out a systematic review of PubMed, Embase, Web of Science, the Cochrane Library, and CINAHL databases from database inception until August 2021 for pertinent articles. Particular inclusion and exclusion criteria were applied to select the eligible studies. The Quality Assessment of Diagnostic Accuracy tool was used to assess the risk of bias and methodological quality of the eligible studies. From the included studies, the rate ratio (RR) of pooled accuracy, sensitivity, specificity and their corresponding confidence intervals (CIs) were estimated for both PWI and PET. Results: The systematic review and meta-analysis comprised 14 research studies, with a total of 542 patients. Although PET revealed a moderately higher accuracy and sensitivity when compared to PWI (RR: 0.94, 95% CI 0.86-1.02 and RR: 0.95 95% CI 0.85-1.06, respectively), the difference was not statistically significant (p>0.05). Similarly, while PWI demonstrated a moderately higher specificity when compared to PET (RR:1.10, 95% CI 0.98-1.23) but. However, no statistically significant difference between the 2 modalities was detected (p>0.05). Interestingly, we revealed that 18F-FET-PET was significantly more efficient than PWI in terms of accuracy (RR: 0.82, 95% CI 0.72-0.93) and sensitivity (RR: 0.72, 95% CI 0.62-0.83) (p>0.05). Conclusion: Both PET and PWI yielded good diagnostic performance in distinguishing treatment-related changes from tumor recurrence, and neither modality seemed to be superior. PROSPERO ID: CRD42021288160","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"27 1","pages":"131 - 142"},"PeriodicalIF":0.9,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47105332","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}
Pub Date : 2022-07-01DOI: 10.17712/nsj.2022.3.20210141
B. Al-Jabri, Refal M. Abualhamael, Maryam T. Al Hazza, Salwa A. Bahabri, Yara M. Alamri, Bayan M. Alghamdi
Objectives: To assess the impact on quality of life (QOL) caused by caring for children with autism spectrum disorder (ASD) and examine the impact according to provincial residence. Methods: This was an observational, cross-sectional study conducted from May to July 2019 at King Abdulaziz University Hospital in Jeddah. Eight hundred and twelve participants were included and divided equally into caregivers of children with and without ASDs. Data were collected through an online questionnaire distributed via autism associations and parental support groups across all 13 Saudi Arabian provinces. Results: Caregivers of children with ASDs showed lower scores in most quality-of-life domains compared with those of caregivers of children without ASDs (p<0.05, except for one domain). The impacts of additional factors were considered, including the caregivers’ age, the relation of the caregiver to the child, the specific province of residence, and the provision of medical services. Conclusion: A significant negative correlation was found between caregiving for children with ASDs and quality-of-life scores.
{"title":"Quality of life of caregivers of autistic children in Saudi Arabia: Cross-sectional study","authors":"B. Al-Jabri, Refal M. Abualhamael, Maryam T. Al Hazza, Salwa A. Bahabri, Yara M. Alamri, Bayan M. Alghamdi","doi":"10.17712/nsj.2022.3.20210141","DOIUrl":"https://doi.org/10.17712/nsj.2022.3.20210141","url":null,"abstract":"Objectives: To assess the impact on quality of life (QOL) caused by caring for children with autism spectrum disorder (ASD) and examine the impact according to provincial residence. Methods: This was an observational, cross-sectional study conducted from May to July 2019 at King Abdulaziz University Hospital in Jeddah. Eight hundred and twelve participants were included and divided equally into caregivers of children with and without ASDs. Data were collected through an online questionnaire distributed via autism associations and parental support groups across all 13 Saudi Arabian provinces. Results: Caregivers of children with ASDs showed lower scores in most quality-of-life domains compared with those of caregivers of children without ASDs (p<0.05, except for one domain). The impacts of additional factors were considered, including the caregivers’ age, the relation of the caregiver to the child, the specific province of residence, and the provision of medical services. Conclusion: A significant negative correlation was found between caregiving for children with ASDs and quality-of-life scores.","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"27 1","pages":"150 - 155"},"PeriodicalIF":0.9,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49365470","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}
Pub Date : 2022-07-01DOI: 10.17712/nsj.2022.3.20220059
J. Finsterer
We have read with interest the article by Zhao et al1 on a 21 years-old male with Kearns-Sayre syndrome (KSS) due to the novel variant c.170G>C in SLC25A4 which led to depletion of the mitochondrial DNA (mtDNA) to 18.7%.1 The patient presented phenotypically with progressive dysarthria starting from age 13, cerebellar atrophy from age 17, and ptosis and ophthalmoparesis from age 19.1 The study is attractive but raises concerns that should be discussed. We disagree with the diagnosis KSS. Kearns-Sayre syndrome is diagnosed based on the phenotype. The prerequisite for the diagnosis is the presence of the 3 main clinical features (progressive external ophthalmoplegia, onset <20y, pigmentary retinopathy) and at least one of the features cerebrospinal fluid (CSF) protein >100mg/dl, cardiac conduction defects, or cerebellar dysfunction.2 Interestingly, the patient did not present with pigmentary retinopathy, or heart block. Additional phenotypic features include hypoacusis, PNS involvement, short stature, growth hormone deficiency, lactic acidosis, facial dysmorphism, hypoparathyroidism, emesis, aortic insufficiency, subaortic septum hypertrophy, right bundle-branch block, and white matter lesions.2 None of these additional features were present in the index patient. It was not possible to assess whether the cerebrospinal fluid (CSF) protein was elevated because reference limits were not given in Table 2.1 Since the patient did not have all three central phenotypic characteristics, and manifested additionally only with cerebellar dysfunction, the diagnosis KSS remains speculative. Since SLC24A4 variants usually cause mitochondrial depletion syndrome (MDS) and KSS is usually due to single mtDNA deletions, single mtDNA duplications, or mtDNA point mutations, the index patient should be diagnosed with MDS, with a KSS-like phenotpye rather than as KSS. Mitochondrial depletion syndrome due to SLC25A4 variants phenotypically manifests with epilepsy, cognitive dysfunction, encephalopathy, cerebral atrophy, white matter lesions, cataract, cardiomyopathy, arterial hypertension, myopathy, or scoliosis.3 Which of these manifestations were found in the index patient? We disagree with the statement in the abstract that KSS is a subtype of progressive external ophthalmoplegia Correspondence
{"title":"Novel SLC25A4 variant causes mitochondrial depletion rather than Kearns-Sayre syndrome","authors":"J. Finsterer","doi":"10.17712/nsj.2022.3.20220059","DOIUrl":"https://doi.org/10.17712/nsj.2022.3.20220059","url":null,"abstract":"We have read with interest the article by Zhao et al1 on a 21 years-old male with Kearns-Sayre syndrome (KSS) due to the novel variant c.170G>C in SLC25A4 which led to depletion of the mitochondrial DNA (mtDNA) to 18.7%.1 The patient presented phenotypically with progressive dysarthria starting from age 13, cerebellar atrophy from age 17, and ptosis and ophthalmoparesis from age 19.1 The study is attractive but raises concerns that should be discussed. We disagree with the diagnosis KSS. Kearns-Sayre syndrome is diagnosed based on the phenotype. The prerequisite for the diagnosis is the presence of the 3 main clinical features (progressive external ophthalmoplegia, onset <20y, pigmentary retinopathy) and at least one of the features cerebrospinal fluid (CSF) protein >100mg/dl, cardiac conduction defects, or cerebellar dysfunction.2 Interestingly, the patient did not present with pigmentary retinopathy, or heart block. Additional phenotypic features include hypoacusis, PNS involvement, short stature, growth hormone deficiency, lactic acidosis, facial dysmorphism, hypoparathyroidism, emesis, aortic insufficiency, subaortic septum hypertrophy, right bundle-branch block, and white matter lesions.2 None of these additional features were present in the index patient. It was not possible to assess whether the cerebrospinal fluid (CSF) protein was elevated because reference limits were not given in Table 2.1 Since the patient did not have all three central phenotypic characteristics, and manifested additionally only with cerebellar dysfunction, the diagnosis KSS remains speculative. Since SLC24A4 variants usually cause mitochondrial depletion syndrome (MDS) and KSS is usually due to single mtDNA deletions, single mtDNA duplications, or mtDNA point mutations, the index patient should be diagnosed with MDS, with a KSS-like phenotpye rather than as KSS. Mitochondrial depletion syndrome due to SLC25A4 variants phenotypically manifests with epilepsy, cognitive dysfunction, encephalopathy, cerebral atrophy, white matter lesions, cataract, cardiomyopathy, arterial hypertension, myopathy, or scoliosis.3 Which of these manifestations were found in the index patient? We disagree with the statement in the abstract that KSS is a subtype of progressive external ophthalmoplegia Correspondence","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"27 1","pages":"197 - 197"},"PeriodicalIF":0.9,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42365801","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}
Pub Date : 2022-07-01DOI: 10.17712/nsj.2022.3.20220021
S. Abdulrazzaq, W. El Ansari, Turki Al-Ahbabi
Objectives: To assess and compare the admission rates of medical complications (MC) after Bariatric and metabolic surgery (BMS) over a period of 6 years prior to and during the pandemic. Bariatric and metabolic surgery could be associated with MC, including malnutrition and neuromuscular complications (NC). Methods: Retrospective study of all patients admitted to Hamad General Hospital, Qatar, with post-BMS MC before (n=12, January 2014-December 2019) and during the pandemic (n=36, January 2020-31 May 2021). We assessed 17 nutrients, nerve conduction/electromyography diagnosed NC, and we explored whether patients had clustering of gastrointestinal symptoms, barium meal findings, excess weight loss percentage (EWL%), or non-compliance with post-BMS clinic visits and multivitamin supplements. Results: The sample comprised 95.8% sleeve gastrectomies, mean age was 26.62 years, and 54.2% were women. Admissions increased from pre-pandemic 0.29 per 100 BMS to 11.04 during the pandemic (p<0.0001), despite no significant differences in patients’ demographic/surgical profiles, nutrient deficiencies, or MC characteristics. Across the sample, the most frequent neuropathies were mixed sensory/motor/axonal; albumin and total protein deficiencies were observed in 54.2% and 29.2% of patients, respectively (no pre-pandemic/pandemic differences). Most frequent micronutrient and trace element deficiencies were potassium, vitamin D, and zinc (no pre-pandemic/pandemic differences). Admitted patients had high non-compliance with multivitamins supplementation (87.5%), high post-BMS nausea/vomiting (66.7%, 62.6%, respectively), high EWL% (mean=74.19±27.84%), no post-BMS outpatient follow up (75% during pre-pandemic, 88.9% during pandemic) (no pre-pandemic/pandemic differences for all), and gastroesophageal reflux (higher during the pandemic, p=0.016). Conclusion: Despite the reduced number of BMS during the pandemic, hospital admissions of MC significantly increased.
{"title":"Effect of COVID-19 pandemic on hospital admission rates of patients with malnutrition and/or neuromuscular complications after bariatric surgery","authors":"S. Abdulrazzaq, W. El Ansari, Turki Al-Ahbabi","doi":"10.17712/nsj.2022.3.20220021","DOIUrl":"https://doi.org/10.17712/nsj.2022.3.20220021","url":null,"abstract":"Objectives: To assess and compare the admission rates of medical complications (MC) after Bariatric and metabolic surgery (BMS) over a period of 6 years prior to and during the pandemic. Bariatric and metabolic surgery could be associated with MC, including malnutrition and neuromuscular complications (NC). Methods: Retrospective study of all patients admitted to Hamad General Hospital, Qatar, with post-BMS MC before (n=12, January 2014-December 2019) and during the pandemic (n=36, January 2020-31 May 2021). We assessed 17 nutrients, nerve conduction/electromyography diagnosed NC, and we explored whether patients had clustering of gastrointestinal symptoms, barium meal findings, excess weight loss percentage (EWL%), or non-compliance with post-BMS clinic visits and multivitamin supplements. Results: The sample comprised 95.8% sleeve gastrectomies, mean age was 26.62 years, and 54.2% were women. Admissions increased from pre-pandemic 0.29 per 100 BMS to 11.04 during the pandemic (p<0.0001), despite no significant differences in patients’ demographic/surgical profiles, nutrient deficiencies, or MC characteristics. Across the sample, the most frequent neuropathies were mixed sensory/motor/axonal; albumin and total protein deficiencies were observed in 54.2% and 29.2% of patients, respectively (no pre-pandemic/pandemic differences). Most frequent micronutrient and trace element deficiencies were potassium, vitamin D, and zinc (no pre-pandemic/pandemic differences). Admitted patients had high non-compliance with multivitamins supplementation (87.5%), high post-BMS nausea/vomiting (66.7%, 62.6%, respectively), high EWL% (mean=74.19±27.84%), no post-BMS outpatient follow up (75% during pre-pandemic, 88.9% during pandemic) (no pre-pandemic/pandemic differences for all), and gastroesophageal reflux (higher during the pandemic, p=0.016). Conclusion: Despite the reduced number of BMS during the pandemic, hospital admissions of MC significantly increased.","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"27 1","pages":"164 - 174"},"PeriodicalIF":0.9,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44458936","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}
Objectives: To study the clinical features of Guillain–Barré syndrome (GBS) and the relationship between serum cystatin C (cysC) levels and Hughes motor scale (HMS) in GBS. Methods: One hundred and one GBS patients between January 2017 and January 2020 were reviewed retrospectively. Their epidemiological characteristics, clinical manifestations and auxiliary examinations were assessed. The HMS was used to measure the peak deficit. The influencing factors of GBS severity were analyzed by univariate and multivariate analyses. Results: The serum cysC levels were significantly higher in the severe group than in the mild group [0.98 (0.85-1.20) vs. 0.81 (0.76-0.95), p=0.004], and there was a positive correlation between serum cysC levels and HMS in GBS patients (r=0.376, p=0.001). On multivariate analysis, respiratory muscle palsy (p=0.003), time to peak deficit (p=0.017), serum cysC (p=0.045) and hyponatremia (p=0.015) were independent risk factors for a poor functional outcome (HMS>3). Combining serum cysC and respiratory muscle palsy was more valuable for assessing disease severity than respiratory muscle palsy alone (AUC 0.863 vs. 0.787, p=0.001). Conclusion: Serum cysC was an independent risk factor in GBS, and positively correlated with HMS. It might be used to assess the severity of GBS with other negative prognostic factors.
{"title":"The relationship between serum cystatin C levels and Hughes motor scale in Guillain-Barré syndrome","authors":"Mengying Chen, Jinming Shi, Jiaxin Fan, Hong-Suo Sun, Q. Yao, Xiaodong Zhang, Shuang Du, Huiyang Qu, Yuxuan Cheng, Shuyin Ma, Meijuan Zhang, Shuqin Zhan","doi":"10.17712/nsj.2022.3.20210126","DOIUrl":"https://doi.org/10.17712/nsj.2022.3.20210126","url":null,"abstract":"Objectives: To study the clinical features of Guillain–Barré syndrome (GBS) and the relationship between serum cystatin C (cysC) levels and Hughes motor scale (HMS) in GBS. Methods: One hundred and one GBS patients between January 2017 and January 2020 were reviewed retrospectively. Their epidemiological characteristics, clinical manifestations and auxiliary examinations were assessed. The HMS was used to measure the peak deficit. The influencing factors of GBS severity were analyzed by univariate and multivariate analyses. Results: The serum cysC levels were significantly higher in the severe group than in the mild group [0.98 (0.85-1.20) vs. 0.81 (0.76-0.95), p=0.004], and there was a positive correlation between serum cysC levels and HMS in GBS patients (r=0.376, p=0.001). On multivariate analysis, respiratory muscle palsy (p=0.003), time to peak deficit (p=0.017), serum cysC (p=0.045) and hyponatremia (p=0.015) were independent risk factors for a poor functional outcome (HMS>3). Combining serum cysC and respiratory muscle palsy was more valuable for assessing disease severity than respiratory muscle palsy alone (AUC 0.863 vs. 0.787, p=0.001). Conclusion: Serum cysC was an independent risk factor in GBS, and positively correlated with HMS. It might be used to assess the severity of GBS with other negative prognostic factors.","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"27 1","pages":"175 - 180"},"PeriodicalIF":0.9,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46869292","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}
Pub Date : 2022-04-01DOI: 10.17712/nsj.2022.2.20210125
S. Alghamdi, O. Alshahrani, A. K. Alharbi, Omar A Alghamdi, Reem Almohaini, J. Y. Alsayat
Objectives: To assess psychiatrists’ knowledge and perception regarding telepsychiatry and evaluate their willingness to adopt telepsychiatry clinical practice in Saudi Arabia. Methods: A cross-sectional study was conducted among psychiatrists working in Saudi Arabia from November 2020 through May 2021. A self-administered questionnaire comprising socio-demographic data, factors related to knowledge, perception, willingness, barriers, and the effectiveness of telepsychiatry, was distributed via. online platform. Data were tabulated and cleaned in MS Excel, and all statistical analyses were performed using SPSS v26. Results: There were 328 psychiatrists enrolled in the group with an average age of 25–35 years (48.8%). The group comprised mainly Saudis (83.5%); male participants outnumbered females (70.4% to 29.6%). Overall, the psychiatrists’ telepsychiatry knowledge level was poor (51.8%), while (48.2%) of the respondents showed good knowledge. However, nearly all respondents exhibited good perception (80.8%), with only 19.2% classified as poor. In addition, older individuals, consultants, clinicians with 11–15 years of experience, clinicians interacting with patients via email, and those who frequently received patient questions regarding online communication indicated increased knowledge. Conclusion: Although perception was positive regarding telepsychiatry, psychiatrists’ knowledge on the subject was deemed insufficient. Psychiatrists’ knowledge depended on their age, position, years of experience, frequent interaction with patients through an online platform, and clients that provided their online contact details.
{"title":"Telepsychiatry: knowledge, effectiveness, and willingness; assessments of psychiatrists in Saudi Arabia","authors":"S. Alghamdi, O. Alshahrani, A. K. Alharbi, Omar A Alghamdi, Reem Almohaini, J. Y. Alsayat","doi":"10.17712/nsj.2022.2.20210125","DOIUrl":"https://doi.org/10.17712/nsj.2022.2.20210125","url":null,"abstract":"Objectives: To assess psychiatrists’ knowledge and perception regarding telepsychiatry and evaluate their willingness to adopt telepsychiatry clinical practice in Saudi Arabia. Methods: A cross-sectional study was conducted among psychiatrists working in Saudi Arabia from November 2020 through May 2021. A self-administered questionnaire comprising socio-demographic data, factors related to knowledge, perception, willingness, barriers, and the effectiveness of telepsychiatry, was distributed via. online platform. Data were tabulated and cleaned in MS Excel, and all statistical analyses were performed using SPSS v26. Results: There were 328 psychiatrists enrolled in the group with an average age of 25–35 years (48.8%). The group comprised mainly Saudis (83.5%); male participants outnumbered females (70.4% to 29.6%). Overall, the psychiatrists’ telepsychiatry knowledge level was poor (51.8%), while (48.2%) of the respondents showed good knowledge. However, nearly all respondents exhibited good perception (80.8%), with only 19.2% classified as poor. In addition, older individuals, consultants, clinicians with 11–15 years of experience, clinicians interacting with patients via email, and those who frequently received patient questions regarding online communication indicated increased knowledge. Conclusion: Although perception was positive regarding telepsychiatry, psychiatrists’ knowledge on the subject was deemed insufficient. Psychiatrists’ knowledge depended on their age, position, years of experience, frequent interaction with patients through an online platform, and clients that provided their online contact details.","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"27 1","pages":"79 - 86"},"PeriodicalIF":0.9,"publicationDate":"2022-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46671556","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}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：