Objective This study aimed to evaluate the association between susceptibility genes and non-alcoholic fatty liver disease(NAFLD)in children with obesity.Methods We conducted a two-step case-control study.Ninety-three ...Objective This study aimed to evaluate the association between susceptibility genes and non-alcoholic fatty liver disease(NAFLD)in children with obesity.Methods We conducted a two-step case-control study.Ninety-three participants were subjected to whole-exome sequencing(exploratory set).Differential genes identified in the small sample were validated in 1,022 participants using multiplex polymerase chain reaction and high-throughput sequencing(validation set).Results In the exploratory set,14 genes from the NAFLD-associated pathways were identified.In the validation set,after adjusting for sex,age,and body mass index,ECI2 rs2326408(dominant model:OR=1.33,95%CI:1.02–1.72;additive model:OR=1.22,95%CI:1.01–1.47),C6orf201 rs659305(dominant model:OR=1.30,95%CI:1.01–1.69;additive model:OR=1.21,95%CI:1.00–1.45),CALML5rs10904516(pre-ad dominant model:OR=1.36,95%CI:1.01–1.83;adjusted dominant model:OR=1.40,95%CI:1.03–1.91;and pre-ad additive model:OR=1.26,95%CI:1.04–1.66)polymorphisms were significantly associated with NAFLD in children with obesity(P<0.05).Interaction analysis revealed that the gene-gene interaction model of CALML5 rs10904516,COX11 rs17209882,and SCD5 rs3733228 was optional(P<0.05),demonstrating a negative interaction between the three genes.Conclusion In the Chinese population,the CALML5 rs10904516,C6orf201 rs659305,and ECI2rs2326408 variants could be genetic markers for NAFLD susceptibility.展开更多
Intracranial aneurysm(IA)is characterized by defects in the middle muscular layer and pathological dilatation of cerebral arteries.The rupture of IA,resulting in aneurysmal subarachnoid hemorrhage,poses a substantial ...Intracranial aneurysm(IA)is characterized by defects in the middle muscular layer and pathological dilatation of cerebral arteries.The rupture of IA,resulting in aneurysmal subarachnoid hemorrhage,poses a substantial public health problem,especially in developed countries,due to its high mortality,morbidity,and socioeconomic burden(Bakker and Ruigrok,2021).Understanding the risk factors for IA is critical for disease prevention.Although numerous studies(Yan et al.,2015;Santiago-Sim et al.,2016;Barak et al.,2021;Liu et al.,2021)have highlighted familial aggregation of IA and identified candidate genes such as ADAMTS15,THSD1,ANK3,and PPIL4,the mechanisms underlying IA formation and rupture remain unclear.展开更多
Background:Type 2 inflammation is a key inflammatory endotype of chronic obstructive pulmonary disease(COPD).The precise identification and targeted intervention of treatable traits related to type 2 inflammation are ...Background:Type 2 inflammation is a key inflammatory endotype of chronic obstructive pulmonary disease(COPD).The precise identification and targeted intervention of treatable traits related to type 2 inflammation are crucial directions in the current management of COPD.Recently,a growing body of evidence-based medical data has accumulated regarding the clinical characteristics,biomarkers,therapeutic agents,and efficacy evaluation of type 2 inflammation in COPD,providing strong support for clinical diagnosis and treatment.This clinical practice recommendation systematically reviewed the evidence-based medical literature and integrated clinical experience to present expert opinions,aiming to standardize and improve the management of type 2 inflammation in COPD.Methods:This clinical practice recommendation followed Appraisal of Guidelines for Research and Evaluation Ⅱ(AGREE Ⅱ)and the Reporting Items for Practice Guidelines in HealThcare(RIGHT)statement to ensure the thoroughness and transparency.Clinical questions were primarily derived from surveys among experts in the field and thorough discussion at meetings.The evidence grading levels and recommendation grades adopted in the clinical practice recommendation follow the evidence grading levels and recommendation grades established by the Oxford Centre for Evidence-Based Medicine.The expert opinions were formulated through open discussion and expert voting.Expert opinions with an agreement rate of 80%or higher among the experts are incorporated in the clinical practice recommendation.Results:Eight clinical questions concerning diagnosis and treatment were proposed after expert discussion.In addition,fifteen specific major points of expert opinions about type 2 inflammation in COPD,involving clinical features,biomarkers,correlation with clinical outcomes,inhaled corticosteroid(ICS)treatment,biologic treatment and treatment response,were determined.Conclusions:A set of comprehensive clinical practice recommendations focusing on the treatable trait of type 2 inflammation in COPD was established,which may provide potential guidance for the precision management of COPD.展开更多
Background This study aimed to assess whether pregnancy and puerperium were associated with the risk of brain arteriovenous malformation(bAVM)haemorrhage.Methods A retrospective review was conducted in Xiangya Hospita...Background This study aimed to assess whether pregnancy and puerperium were associated with the risk of brain arteriovenous malformation(bAVM)haemorrhage.Methods A retrospective review was conducted in Xiangya Hospital,Central South University from January 2012 to December 2021.A case-crossover design was adopted to calculate the incidence density of bAVM-related haemorrhage among female patients in risk(pregnancy and puerperium)and control(non-pregnancy and non-puerperium)periods,according to four scenarios observed in different populations scenario I:patients with haemorrhagic bAVM of all ages;scenario II:patients with haemorrhagic bAVM of all ages,with at least one previous pregnancy;scenario III:patients with haemorrhagic bAVM who are of reproductive age(15-45 years);scenario IV:patients with haemorrhagic bAVM of reproductive age(15-45 years),with at least one previous pregnancy.Next,a comprehensive literature aggregation(up to April 2022)was performed for evidence synthesis.Results Among the 311 female patients with haemorrhagic bAVM,a significant haemorrhage risk during pregnancy and puerperium was found in Scenarios I(relative risk[RR],2.08;95%CI,1.28 to 3.39),II(RR,3.21;95%CI,1.95 to 5.31)and IV(RR,2.92;95%CI,1.73 to 4.93);however,a suggestive risk was found in scenario III(RR,1.62;95%CI,0.99 to 2.67).Evidence synthesis revealed a consistent haemorrhage risk among patients of all ages(RR,3.15;95%CI,1.93 to 5.15)and those of reproductive age(RR,1.29;95%CI,0.89 to 1.86).Conclusion Compared with most previous studies,a higher but relatively moderate risk for bAVM-related haemorrhage was identified during pregnancy and puerperium.Individualised prevention and treatment strategies should be preferred when neurosurgeons make clinical decisions.展开更多
基金supported by the Hunan Provincial Natural Science Foundation of China(2024JJ6257)Hunan Children’s Hospital Cultivation Project Fund(2024GZPY04)+2 种基金Opening fundings of Hunan Provincial Key Laboratory of Pediatric Orthopedics(2023TP1019)Science and Technology Project of Furong Laboratory(2023SK2111)Hunan Provincial Clinical Medical Research Center for pediatric Limb Deformities(2019SK4006)。
文摘Objective This study aimed to evaluate the association between susceptibility genes and non-alcoholic fatty liver disease(NAFLD)in children with obesity.Methods We conducted a two-step case-control study.Ninety-three participants were subjected to whole-exome sequencing(exploratory set).Differential genes identified in the small sample were validated in 1,022 participants using multiplex polymerase chain reaction and high-throughput sequencing(validation set).Results In the exploratory set,14 genes from the NAFLD-associated pathways were identified.In the validation set,after adjusting for sex,age,and body mass index,ECI2 rs2326408(dominant model:OR=1.33,95%CI:1.02–1.72;additive model:OR=1.22,95%CI:1.01–1.47),C6orf201 rs659305(dominant model:OR=1.30,95%CI:1.01–1.69;additive model:OR=1.21,95%CI:1.00–1.45),CALML5rs10904516(pre-ad dominant model:OR=1.36,95%CI:1.01–1.83;adjusted dominant model:OR=1.40,95%CI:1.03–1.91;and pre-ad additive model:OR=1.26,95%CI:1.04–1.66)polymorphisms were significantly associated with NAFLD in children with obesity(P<0.05).Interaction analysis revealed that the gene-gene interaction model of CALML5 rs10904516,COX11 rs17209882,and SCD5 rs3733228 was optional(P<0.05),demonstrating a negative interaction between the three genes.Conclusion In the Chinese population,the CALML5 rs10904516,C6orf201 rs659305,and ECI2rs2326408 variants could be genetic markers for NAFLD susceptibility.
基金supported by the National Natural Science Foundation of China(32222028)Natural Science Foundation of Chongqing,China(CSTB2023NSCQ-MSX0505)+1 种基金Financial Science and Technology Project of Hunan Province,China(422000008)Hunan Province Nature Science Foundation,China(2021JJ30911).
文摘Intracranial aneurysm(IA)is characterized by defects in the middle muscular layer and pathological dilatation of cerebral arteries.The rupture of IA,resulting in aneurysmal subarachnoid hemorrhage,poses a substantial public health problem,especially in developed countries,due to its high mortality,morbidity,and socioeconomic burden(Bakker and Ruigrok,2021).Understanding the risk factors for IA is critical for disease prevention.Although numerous studies(Yan et al.,2015;Santiago-Sim et al.,2016;Barak et al.,2021;Liu et al.,2021)have highlighted familial aggregation of IA and identified candidate genes such as ADAMTS15,THSD1,ANK3,and PPIL4,the mechanisms underlying IA formation and rupture remain unclear.
文摘Background:Type 2 inflammation is a key inflammatory endotype of chronic obstructive pulmonary disease(COPD).The precise identification and targeted intervention of treatable traits related to type 2 inflammation are crucial directions in the current management of COPD.Recently,a growing body of evidence-based medical data has accumulated regarding the clinical characteristics,biomarkers,therapeutic agents,and efficacy evaluation of type 2 inflammation in COPD,providing strong support for clinical diagnosis and treatment.This clinical practice recommendation systematically reviewed the evidence-based medical literature and integrated clinical experience to present expert opinions,aiming to standardize and improve the management of type 2 inflammation in COPD.Methods:This clinical practice recommendation followed Appraisal of Guidelines for Research and Evaluation Ⅱ(AGREE Ⅱ)and the Reporting Items for Practice Guidelines in HealThcare(RIGHT)statement to ensure the thoroughness and transparency.Clinical questions were primarily derived from surveys among experts in the field and thorough discussion at meetings.The evidence grading levels and recommendation grades adopted in the clinical practice recommendation follow the evidence grading levels and recommendation grades established by the Oxford Centre for Evidence-Based Medicine.The expert opinions were formulated through open discussion and expert voting.Expert opinions with an agreement rate of 80%or higher among the experts are incorporated in the clinical practice recommendation.Results:Eight clinical questions concerning diagnosis and treatment were proposed after expert discussion.In addition,fifteen specific major points of expert opinions about type 2 inflammation in COPD,involving clinical features,biomarkers,correlation with clinical outcomes,inhaled corticosteroid(ICS)treatment,biologic treatment and treatment response,were determined.Conclusions:A set of comprehensive clinical practice recommendations focusing on the treatable trait of type 2 inflammation in COPD was established,which may provide potential guidance for the precision management of COPD.
基金supported by the grants from the Hunan Province Nature Science Foundation,China(2021JJ30911,2021JJ31077,2021JJ31121)Financial Science and Technology Project of Hunan Province,China(422000008)Central South University Case Database Construction Project for Graduate Students,China(2020ALK24).
文摘Background This study aimed to assess whether pregnancy and puerperium were associated with the risk of brain arteriovenous malformation(bAVM)haemorrhage.Methods A retrospective review was conducted in Xiangya Hospital,Central South University from January 2012 to December 2021.A case-crossover design was adopted to calculate the incidence density of bAVM-related haemorrhage among female patients in risk(pregnancy and puerperium)and control(non-pregnancy and non-puerperium)periods,according to four scenarios observed in different populations scenario I:patients with haemorrhagic bAVM of all ages;scenario II:patients with haemorrhagic bAVM of all ages,with at least one previous pregnancy;scenario III:patients with haemorrhagic bAVM who are of reproductive age(15-45 years);scenario IV:patients with haemorrhagic bAVM of reproductive age(15-45 years),with at least one previous pregnancy.Next,a comprehensive literature aggregation(up to April 2022)was performed for evidence synthesis.Results Among the 311 female patients with haemorrhagic bAVM,a significant haemorrhage risk during pregnancy and puerperium was found in Scenarios I(relative risk[RR],2.08;95%CI,1.28 to 3.39),II(RR,3.21;95%CI,1.95 to 5.31)and IV(RR,2.92;95%CI,1.73 to 4.93);however,a suggestive risk was found in scenario III(RR,1.62;95%CI,0.99 to 2.67).Evidence synthesis revealed a consistent haemorrhage risk among patients of all ages(RR,3.15;95%CI,1.93 to 5.15)and those of reproductive age(RR,1.29;95%CI,0.89 to 1.86).Conclusion Compared with most previous studies,a higher but relatively moderate risk for bAVM-related haemorrhage was identified during pregnancy and puerperium.Individualised prevention and treatment strategies should be preferred when neurosurgeons make clinical decisions.
