We report brain imaging and genetic diagnosis in a family from Wuhan, China, with a history of Huntington＇s disease. Among 17 family members across three generations, four patients （Ⅱ2, Ⅱ6, Ⅲ5, and Ⅲ9） show typ...We report brain imaging and genetic diagnosis in a family from Wuhan, China, with a history of Huntington＇s disease. Among 17 family members across three generations, four patients （Ⅱ2, Ⅱ6, Ⅲ5, and Ⅲ9） show typical Huntington＇s disease, involuntary dance-like movements. Magnetic resonance imaging found lateral ventricular atrophy in three members （Ⅱ2, Ⅱ6, and Ⅲ5）. Moreover, genetic analysis identified abnormally amplified CAG sequence repeats （〉 40） in two members （Ⅲ5 and Ⅲ9）. Among borderline cases, with clinical symptoms and brain imaging features of Huntington＇s disease, two cases were identified （Ⅱ2 and Ⅱ6）, but shown by mutation analysis for CAG expansions in the important transcript 15 gene, to be non-Huntington＇s disease. Our findings suggest that clinical diagnosis of Huntington＇s disease requires a combination of clinical symptoms, radiological changes, and genetic diagnosis.展开更多
Introduction: Hypertension is the leading preventable risk factor for major cardiovascular diseases worldwide. Recently, compelling evidence has emerged associating hypertension with cerebral microbleeds (CMBs), which...Introduction: Hypertension is the leading preventable risk factor for major cardiovascular diseases worldwide. Recently, compelling evidence has emerged associating hypertension with cerebral microbleeds (CMBs), which are subclinical hemorrhages in the brain resulting from structural abnormalities in the small vessels that supply the brain. In addition to overall elevated blood pressure (BP), elevation in individual parameters such as systolic BP, diastolic BP, pulse pressure and mean arterial pressure could also individually be important risk factors for CMBs. This study aimed to assess the association between CMBs and blood pressure, and assess blood pressure parameters that could be possible risk factors for CMB. Methods: A retrospective case-control study was conducted from August 2021 to September 2022 on patients who underwent MRI due to primary complaints of limb disorders, loss of consciousness, persistent dizziness, and intermittent headaches. The patients were divided according to MRI results into 52 cases (those who had CMBs) and 52 controls (those who had no CMBs). Extracted data were analyzed in SPSS. Chi-square test, binary logistic regression, and Spearman’s correlation analysis were conducted. Results: In total, 104 cases and control patients were assessed, with mean (±SD) age 70.6 ± 8.56 vs 68.9 ± 8.93 years respectively (p > 0.05). CMB patients had more cases of stroke, hyperlipidemia and diabetes than non-CMB patients. Systolic blood pressure (SBP), diastolic blood pressure, pulse pressure (PP) and mean arterial pressure (MAP) were all considerably raised in CMB patients than non-CMBs patients. Blood pressure grades were positively correlated with the severity of CMBs (r = 0.22;p = 0.044). Logistic regression analysis showed that SBP and MAP were independent risk factors for CMBs (age and sex adjusted odds ratio = 1.420;95% CI: 1.030 - 1.851, and 1.310;95% CI: 1.011 - 1.631 respectively). Conclusions: In summary, this study found that hypertension was positively correlated with CMBs severity, and that SBP and MAP are independent risk factors for CMBs in patients with hypertension.展开更多
Turner syndrome patients partially or completely lack the X chromosome. 1 - 2500 female live births are affected. Clinical features include webbed neck, short stature, broad chest etc. Bicuspid aortic valve disease (B...Turner syndrome patients partially or completely lack the X chromosome. 1 - 2500 female live births are affected. Clinical features include webbed neck, short stature, broad chest etc. Bicuspid aortic valve disease (BAV) occurs in more than 30% of Turner syndrome patients causing significant morbidity and mortality. We aimed to establish a more reliable estimate of the prevalence of BAV in Turner syndrome. PubMed, Embase and PsycINFO databases were searched until 2022. Review Manager (RevMan 5.4.1) and the JASP software (0.16.00) were used for meta-analysis. 15 studies with a total of 3189 patients were combined. The pooled prevalence of BAV in Turner syndrome was 22.0% (95% CI: 15.0% - 29.0%). Sub group analysis by 45, X0 karyotype and age had prevalence of 24.0% and 8% respectively. The studies had high heterogeneity and possible publication biases. In summary, the study established that the prevalence of BAV in Turner syndrome patients diagnosed by echocardiogram, CT and MRI scans, is 22.0%, and 24% in patients with true monosomy 45, X0 karyotypes. Routine BAV exam should pay particular attention to monosomy 45, X0 karyotype patients, and where possible, CT and MRI should always accompany echocardiography for BAV screening, especially for pediatrics.展开更多
Background: The association between prenatal exposure to antiseizure medications (ASM) and autism spectrum disorder has been documented. This study sought to examine and synthesize evidence from studies that have eval...Background: The association between prenatal exposure to antiseizure medications (ASM) and autism spectrum disorder has been documented. This study sought to examine and synthesize evidence from studies that have evaluated these associations, with particular focus on the trimester of pregnancy and dosage of exposure. Methodology: PubMed, Embase, and PsycINFO databases were searched following strict inclusion/exclusion criteria. 10 studies were recruited involving children born to mothers with epilepsy who took ASM during pregnancy as cases, and those with epilepsy who did not take any ASM in pregnancy. Results: The relative risk of developing ASD among children exposed to valproic acid (RR, 3.90 [95% CI: 2.36 - 6.44], p < 0.006), was twice higher than that of carbamazepine (RR, 1.65 [95% CI: 0.62 - 4.37], p < 0.0001), or lamotrigine (RR, 1.60 [95% CI: 0.77 - 3.32], p = 0.006). The trimester of exposure and dosage of ASM administered were not significant. Conclusion: In summary, prenatal exposure to ASM increased the risk of developing ASD in children. The relative risk was twice as high in those exposed to valproic acid compared to those exposed to carbamazepine or lamotrigine. Trimester of pregnancy and dosage of ASM used by the mothers were not significant.展开更多
Despite the dramatic increase in autism spectrum disorders (ASD) globally, no research has been conducted in Somalia regarding ASD. However, research studies from Somali immigrants (diaspora) living in Sweden, the US,...Despite the dramatic increase in autism spectrum disorders (ASD) globally, no research has been conducted in Somalia regarding ASD. However, research studies from Somali immigrants (diaspora) living in Sweden, the US, the UK, etc., have been major contributors to the subject of ASD among people of Somali descent. In this review, we aimed to examine ASD among the Somali diaspora community in terms of its prevalence, possible causes, knowledge of the diseases among the diaspora community, and the challenges faced in raising ASD-affected children in a foreign country. These findings create a general picture of the magnitude of the burden of ASD diagnosis and management and the coping mechanisms adopted by the Somali diaspora community, which are vital lessons for policymakers, child health non-governmental organizations, and the professional medical bodies aiming to tackle ASD back home in Somalia. The study found that ASD is three to five times more prevalent among children of Somali descent than their peers from other backgrounds and that Somali children were generally diagnosed much later than their peers and often presented with lower intellectual abilities than their peers. Furthermore, Somali immigrants were found to have low levels of knowledge about autism, faced stigma and discrimination and often resorted to religion and a small tight circle of friends and family for social support. They faced a huge challenge of seeking access to healthcare and schools for their autistic children and have a mistrust of social services for fear of the government taking away their children. These findings raise the possibility that neglected ASD cases may be prevalent in Somalia and thus makes recommendations for future research, social policy development, and early intervention services for individuals with autism in Somalia.展开更多
Background:Microvascular invasion(MVI)was a critical high-risk factor for postoperative recurrence and adverse prognosis in patients with hepatocellular carcinoma(HCC),and there were no reliable non-invasive pre-opera...Background:Microvascular invasion(MVI)was a critical high-risk factor for postoperative recurrence and adverse prognosis in patients with hepatocellular carcinoma(HCC),and there were no reliable non-invasive pre-operative diagnostic markers.The exosomal N-glycan profile was closely related to the invasion and immune escape of HCC.Therefore,this article investigated the expression of N-glycan profiles in serum exosomes of patients with HCC and its clinical significance for MVI.Methods:Serum samples from 210 patients with HCC were collected and randomly divided into modeling and validation cohorts.The abundances of N-glycans in serum exosomes with different MVI grades were determined.A diagnostic model for MVI in HCC based on N-glycosylation was constructed and the diagnostic value was analyzed.Results:In the modeling cohort,comparing groups M0 with M2,the area under the receiver operating characteristic(AUC)of the diagnostic model namely SUM(AUCSUM)was 0.861,the sensitivity of SUM was 92.68%,and the specificity of SUM was 79.41%,all of which were higher than the seven individual indexes(containing Peak 1,Peak 6,Peak 9,Peak 10,Peak 12,AFP,and PIVKA-II).In the comparison between the M1 and M2 groups,the AUCSUM was 0.749,the sensitivity of SUM was 79.07%,and the specificity of SUM was 76.60%,all of which were higher than the seven individual indexes.When comparing the M0 and M1 groups,the AUCSUM was 0.712,the sensitivity of SUM was 88.57%,and the specificity of SUM was 65.00%.The AUCSUM and sensitivity of SUM were higher than the seven individual indexes and the specificity of SUM was slightly lower than that of AFP(68.18%)but higher than other individual indexes.The results of the validation cohort were similar to those of the modeling cohort.Conclusion:The SUM model of serum exosomes can serve as an auxiliary diagnostic index for MVI staging in patients with HCC.展开更多
基金supported by the Fundamental Research Funds for the Central Universities,No.20100141110017,20103030201000217 and 201130302020008
文摘We report brain imaging and genetic diagnosis in a family from Wuhan, China, with a history of Huntington＇s disease. Among 17 family members across three generations, four patients （Ⅱ2, Ⅱ6, Ⅲ5, and Ⅲ9） show typical Huntington＇s disease, involuntary dance-like movements. Magnetic resonance imaging found lateral ventricular atrophy in three members （Ⅱ2, Ⅱ6, and Ⅲ5）. Moreover, genetic analysis identified abnormally amplified CAG sequence repeats （〉 40） in two members （Ⅲ5 and Ⅲ9）. Among borderline cases, with clinical symptoms and brain imaging features of Huntington＇s disease, two cases were identified （Ⅱ2 and Ⅱ6）, but shown by mutation analysis for CAG expansions in the important transcript 15 gene, to be non-Huntington＇s disease. Our findings suggest that clinical diagnosis of Huntington＇s disease requires a combination of clinical symptoms, radiological changes, and genetic diagnosis.
文摘Introduction: Hypertension is the leading preventable risk factor for major cardiovascular diseases worldwide. Recently, compelling evidence has emerged associating hypertension with cerebral microbleeds (CMBs), which are subclinical hemorrhages in the brain resulting from structural abnormalities in the small vessels that supply the brain. In addition to overall elevated blood pressure (BP), elevation in individual parameters such as systolic BP, diastolic BP, pulse pressure and mean arterial pressure could also individually be important risk factors for CMBs. This study aimed to assess the association between CMBs and blood pressure, and assess blood pressure parameters that could be possible risk factors for CMB. Methods: A retrospective case-control study was conducted from August 2021 to September 2022 on patients who underwent MRI due to primary complaints of limb disorders, loss of consciousness, persistent dizziness, and intermittent headaches. The patients were divided according to MRI results into 52 cases (those who had CMBs) and 52 controls (those who had no CMBs). Extracted data were analyzed in SPSS. Chi-square test, binary logistic regression, and Spearman’s correlation analysis were conducted. Results: In total, 104 cases and control patients were assessed, with mean (±SD) age 70.6 ± 8.56 vs 68.9 ± 8.93 years respectively (p > 0.05). CMB patients had more cases of stroke, hyperlipidemia and diabetes than non-CMB patients. Systolic blood pressure (SBP), diastolic blood pressure, pulse pressure (PP) and mean arterial pressure (MAP) were all considerably raised in CMB patients than non-CMBs patients. Blood pressure grades were positively correlated with the severity of CMBs (r = 0.22;p = 0.044). Logistic regression analysis showed that SBP and MAP were independent risk factors for CMBs (age and sex adjusted odds ratio = 1.420;95% CI: 1.030 - 1.851, and 1.310;95% CI: 1.011 - 1.631 respectively). Conclusions: In summary, this study found that hypertension was positively correlated with CMBs severity, and that SBP and MAP are independent risk factors for CMBs in patients with hypertension.
文摘Turner syndrome patients partially or completely lack the X chromosome. 1 - 2500 female live births are affected. Clinical features include webbed neck, short stature, broad chest etc. Bicuspid aortic valve disease (BAV) occurs in more than 30% of Turner syndrome patients causing significant morbidity and mortality. We aimed to establish a more reliable estimate of the prevalence of BAV in Turner syndrome. PubMed, Embase and PsycINFO databases were searched until 2022. Review Manager (RevMan 5.4.1) and the JASP software (0.16.00) were used for meta-analysis. 15 studies with a total of 3189 patients were combined. The pooled prevalence of BAV in Turner syndrome was 22.0% (95% CI: 15.0% - 29.0%). Sub group analysis by 45, X0 karyotype and age had prevalence of 24.0% and 8% respectively. The studies had high heterogeneity and possible publication biases. In summary, the study established that the prevalence of BAV in Turner syndrome patients diagnosed by echocardiogram, CT and MRI scans, is 22.0%, and 24% in patients with true monosomy 45, X0 karyotypes. Routine BAV exam should pay particular attention to monosomy 45, X0 karyotype patients, and where possible, CT and MRI should always accompany echocardiography for BAV screening, especially for pediatrics.
文摘Background: The association between prenatal exposure to antiseizure medications (ASM) and autism spectrum disorder has been documented. This study sought to examine and synthesize evidence from studies that have evaluated these associations, with particular focus on the trimester of pregnancy and dosage of exposure. Methodology: PubMed, Embase, and PsycINFO databases were searched following strict inclusion/exclusion criteria. 10 studies were recruited involving children born to mothers with epilepsy who took ASM during pregnancy as cases, and those with epilepsy who did not take any ASM in pregnancy. Results: The relative risk of developing ASD among children exposed to valproic acid (RR, 3.90 [95% CI: 2.36 - 6.44], p < 0.006), was twice higher than that of carbamazepine (RR, 1.65 [95% CI: 0.62 - 4.37], p < 0.0001), or lamotrigine (RR, 1.60 [95% CI: 0.77 - 3.32], p = 0.006). The trimester of exposure and dosage of ASM administered were not significant. Conclusion: In summary, prenatal exposure to ASM increased the risk of developing ASD in children. The relative risk was twice as high in those exposed to valproic acid compared to those exposed to carbamazepine or lamotrigine. Trimester of pregnancy and dosage of ASM used by the mothers were not significant.
文摘Despite the dramatic increase in autism spectrum disorders (ASD) globally, no research has been conducted in Somalia regarding ASD. However, research studies from Somali immigrants (diaspora) living in Sweden, the US, the UK, etc., have been major contributors to the subject of ASD among people of Somali descent. In this review, we aimed to examine ASD among the Somali diaspora community in terms of its prevalence, possible causes, knowledge of the diseases among the diaspora community, and the challenges faced in raising ASD-affected children in a foreign country. These findings create a general picture of the magnitude of the burden of ASD diagnosis and management and the coping mechanisms adopted by the Somali diaspora community, which are vital lessons for policymakers, child health non-governmental organizations, and the professional medical bodies aiming to tackle ASD back home in Somalia. The study found that ASD is three to five times more prevalent among children of Somali descent than their peers from other backgrounds and that Somali children were generally diagnosed much later than their peers and often presented with lower intellectual abilities than their peers. Furthermore, Somali immigrants were found to have low levels of knowledge about autism, faced stigma and discrimination and often resorted to religion and a small tight circle of friends and family for social support. They faced a huge challenge of seeking access to healthcare and schools for their autistic children and have a mistrust of social services for fear of the government taking away their children. These findings raise the possibility that neglected ASD cases may be prevalent in Somalia and thus makes recommendations for future research, social policy development, and early intervention services for individuals with autism in Somalia.
基金Fuzhou“14th Five-Year”Clinical Key Specialty,Grant/Award Number:20220203Natural Science Foundation of Fujian Province,Grant/Award Number:2020J011169。
文摘Background:Microvascular invasion(MVI)was a critical high-risk factor for postoperative recurrence and adverse prognosis in patients with hepatocellular carcinoma(HCC),and there were no reliable non-invasive pre-operative diagnostic markers.The exosomal N-glycan profile was closely related to the invasion and immune escape of HCC.Therefore,this article investigated the expression of N-glycan profiles in serum exosomes of patients with HCC and its clinical significance for MVI.Methods:Serum samples from 210 patients with HCC were collected and randomly divided into modeling and validation cohorts.The abundances of N-glycans in serum exosomes with different MVI grades were determined.A diagnostic model for MVI in HCC based on N-glycosylation was constructed and the diagnostic value was analyzed.Results:In the modeling cohort,comparing groups M0 with M2,the area under the receiver operating characteristic(AUC)of the diagnostic model namely SUM(AUCSUM)was 0.861,the sensitivity of SUM was 92.68%,and the specificity of SUM was 79.41%,all of which were higher than the seven individual indexes(containing Peak 1,Peak 6,Peak 9,Peak 10,Peak 12,AFP,and PIVKA-II).In the comparison between the M1 and M2 groups,the AUCSUM was 0.749,the sensitivity of SUM was 79.07%,and the specificity of SUM was 76.60%,all of which were higher than the seven individual indexes.When comparing the M0 and M1 groups,the AUCSUM was 0.712,the sensitivity of SUM was 88.57%,and the specificity of SUM was 65.00%.The AUCSUM and sensitivity of SUM were higher than the seven individual indexes and the specificity of SUM was slightly lower than that of AFP(68.18%)but higher than other individual indexes.The results of the validation cohort were similar to those of the modeling cohort.Conclusion:The SUM model of serum exosomes can serve as an auxiliary diagnostic index for MVI staging in patients with HCC.
