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A novel missense mutation in obscurin gene in a Chinese consanguineous family with left ventricular noncompaction
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作者 Xue-Qi DONG pei-pei qin +9 位作者 Di ZHANG Qiong-Yu ZHANG Yi QU Lin ZHAO Yi-Ting LU Yu-Xiao HU Chun-Xue YANG Xin-Chang LIU Ya-Xin LIU Xian-Liang ZHOU 《Journal of Geriatric Cardiology》 SCIE CAS CSCD 2022年第7期531-538,共8页
BACKGROUND Left ventricular noncompaction(LVNC) is an increasingly recognised cardiomyopathy of which a significant percentage are genetic in origin. The purpose of the present study was to identify potential pathogen... BACKGROUND Left ventricular noncompaction(LVNC) is an increasingly recognised cardiomyopathy of which a significant percentage are genetic in origin. The purpose of the present study was to identify potential pathogenic mutation leading to disease in a Chinese LVNC family.METHODS A 3-generation family affected by LVNC was recruited. Clinical assessments were performed on available family members, with clinical examination, ECG, echocardiography and cardiac MRI. The proband(Ⅰ-2), the proband’s daughter(Ⅱ-1, affected) and mother(Ⅲ-1, unaffected) were selected for WGS. Sanger sequencing were performed in all of the 4 surviving family members.RESULTS Combined whole genome sequencing with linkage analysis identified a novel missense mutation in the giant protein obscurin(OBSCN NM_001098623, c.C19063T), as the only plausible disease-causing variant that segregates with disease among the four surviving individuals, with interrogation of the entire genome excluding other potential causes. This c.C19063T missense mutation resulted in p.R6355W in the encoded OBSCN protein. It affected a highly conserved residue in the C terminus of the obscurin-B-like isoform between the PH and STKc domains, which was predicted to affect the function of the protein by different bioinformatics tools.CONCLUSIONS Here we present clinical and genetic evidence implicating the novel R6355W missense mutation in obscurin as the cause of familial LVNC. This expands the spectrum of obscurin’s roles in cardiomyopathies. It furthermore highlights that rare obscurin missense variants, currently often ignored or left uninterpreted, should be considered to be relevant for cardiomyopathies and can be identified by the approach presented here. This study also provided new insights into the molecular basis of OBSCN mutation positive LVNC. 展开更多
关键词 VENTRICULAR MOTHER LINKAGE
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A Multi-centered Cross-sectional Study of Disease Burden of Pain of Inpatients in Southwest China 被引量:7
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作者 Li-Hua Peng Ju-Yin Jing +1 位作者 pei-pei qin Min Su 《Chinese Medical Journal》 SCIE CAS CSCD 2016年第8期936-941,共6页
Background:Pain is a common burden of disease globally;yet,it is not systematically investigated in China,especially in hospitalized patients.This study was aimed at clarifying the epidemiological characteristics of ... Background:Pain is a common burden of disease globally;yet,it is not systematically investigated in China,especially in hospitalized patients.This study was aimed at clarifying the epidemiological characteristics of pain and related factors in hospitalized patients in Southwest China.Methods:A cross-sectional study was conducted to investigate the prevalence,severity,and influencing factors of pain and modes of postoperative analgesia in hospitalized patients from 17 hospitals in Southwest China.A prevalidated questionnaire was employed to calibrate all of these items within 3 days from March 18,2015 to March 20,2015.Results:A total of 2293 patients were surveyed,the incidence of pain was 57.4% in all hospitalized patients at rest,of which 62.1% were with acute pain and 37.9% had persistent to chronic pain.Among surgical patients,90.8% of them complained of acute postoperative pain at rest and 97.1% in motion.The incidence of acute postoperative moderate-to-severe pain was 28.8% at rest and 45.1% in motion.Surgical patients reported higher incidences of pain,especially acute and persistent pain compared with nonsurgical patients (P 〈 0.05).Postoperative pain occurred predominately at surgical sites (95.2%) as compared with nonsurgical sites (4.8%).Agedness,lower education level,surgery,and history of smoking were factors associated with increased duration and severity of postoperative pain and nonsurgical pain (P 〈 0.05).Conclusions:Pain is a common burden of disease in China,of which surgical pain constituted an important component.Surgical patients complained more severe pain than those who did not undergo surgery.Postoperative analgesia still needs to be improved to control pain after surgery.Patients&#39; perception might influence the efficacy of pain management,which should be implemented with a multidisciplinary approach. 展开更多
关键词 INPATIENTS PAIN Postoperative Pain
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Implementation of the pre-operative rehabilitation recovery protocol and its effect on the quality of recovery after colorectal surgeries 被引量:1
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作者 Li-Hua Peng Wen-Jian Wang +3 位作者 Jing Chen Ju-Ying Jin Su Min pei-pei qin 《Chinese Medical Journal》 SCIE CAS CSCD 2021年第23期2865-2873,共9页
Background:Patients’recovery after surgery is the major concern for all perioperative clinicians.This study aims to minimize the side effects of peri-operative surgical stress and accelerate patients’recovery of gas... Background:Patients’recovery after surgery is the major concern for all perioperative clinicians.This study aims to minimize the side effects of peri-operative surgical stress and accelerate patients’recovery of gastrointestinal(GI)function and quality of life after colorectal surgeries,an enhanced recovery protocol based on pre-operative rehabilitation was implemented and its effect was explored.Methods:A prospective randomized controlled clinical trial was conducted,patients were recruited from January 2018 to September 2019 in this study.Patients scheduled for elective colorectal surgeries were randomly allocated to receive either standardized enhanced recovery after surgery(S-ERAS)group or enhanced recovery after surgery based on pre-operative rehabilitation(group PR-ERAS).In the group PR-ERAS,on top of recommended peri-operative strategies for enhanced recovery,formatted rehabilitation exercises pre-operatively were carried out.The primary outcome was the quality of GI recovery measured with I-FEED scoring.Secondary outcomes were quality of life scores and strength of handgrip;the incidence of adverse events till 30 days post-operatively was also analyzed.Results:A total of 240 patients were scrutinized and 213 eligible patients were enrolled,who were randomly allocated to the group S-ERAS(n=104)and group PR-ERAS(n=109).The percentage of normal recovery graded by I-FEED scoring was higher in group PR-ERAS(79.0%vs.64.3%,P<0.050).The subscores of life ability and physical well-being at post-operative 72 h were significantly improved in the group PR-ERAS using quality of recovery score(QOR-40)questionnaire(P<0.050).The strength of hand grip post-operatively was also improved in the group PR-ERAS(P<0.050).The incidence of bowel-related and other adverse events was similar in both groups till 30 days post-operatively(P>0.050).Conclusions:Peri-operative rehabilitation exercise might be another benevolent factor for early recovery of GI function and life of quality after colorectal surgery.Newer,more surgery-specific rehabilitation recovery protocol merits further exploration for these patients. 展开更多
关键词 Enhanced recovery after surgery Gastrointestinal function Peri-operatively REHABILITATION
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