Rh血型系统是输血医学中重要的常规检测血型系统,因RhD血型不合引起的溶血性输血反应及新生儿溶血病一直以来倍受临床重视。本研究报道了2例罕见的RHD基因变异型RHD*DEL37个体的血清学和基因特征,这2例个体的血液样本经血清学方法(试管...Rh血型系统是输血医学中重要的常规检测血型系统,因RhD血型不合引起的溶血性输血反应及新生儿溶血病一直以来倍受临床重视。本研究报道了2例罕见的RHD基因变异型RHD*DEL37个体的血清学和基因特征,这2例个体的血液样本经血清学方法(试管法和微柱凝胶法)鉴定为RhD阴性。采用聚合酶链反应-序列特异性引物(polymerase chain reaction-sequence specific prime,PCR-SSP)对样本进行RHD基因分型和合子型分析,基因分型结果为RHD基因阳性,并排除了常见的几种RHD基因变异体的可能。RHD基因合子型检测阳性,证明其中一条RHD等位基因1~10外显子全部缺失。进一步对样本RHD基因1~10外显子基因进行Sanger法测序,测序结果显示在另一条等位基因第8内含子上的第1154-31号碱基发生了T>C突变,国际输血协会(International Society of Blood Transfusion,ISBT)将该突变等位基因命名为RHD*DEL37,表型为RhD放散型(D-elute,Del)。本研究中,2例血清学初筛RhD阴性的样本通过分子生物学检测,其基因型为RHD*DEL37/RHD-(RHD*01N.01)。由于这2例个体无血缘关系,提示我国可能存在携带该基因突变的人群。本研究提示分子生物学方法可辅助鉴别血清学初筛为阴性的RhD变异体样本,联用分子生物学方法和血清学方法在准确鉴定血型、保障患者输血安全方面有重要意义。展开更多
Background Depression,anxiety and schizophrenia among older persons have become global public health challenges.However,the burden of these disorders in ageing and aged countries has not been analysed.Aims To investig...Background Depression,anxiety and schizophrenia among older persons have become global public health challenges.However,the burden of these disorders in ageing and aged countries has not been analysed.Aims To investigate the burden of depression,anxiety and schizophrenia among older adults in ageing and aged countries.Methods Using data from the Global Burden of Disease Study 2019,we calculated the estimated annual percentage change(EAPC)in the age-standardised incidence rates(ASiR)and age-standardised disability-adjusted life years(DALYs)rates(ASDR)for depression,anxiety and schizophrenia of older people in ageing countries(China,India,Indonesia)and aged countries(Japan,Italy,Portugal)between 1990 and 2019.Trends in incidence and DALYs were analysed by gender and age.Results In 2019,the highest incidence of depression,anxiety and schizophrenia in the older population in aged countries was in Japan(927271.3(752552.3-1125796.5),51498.2(37625.7-70487.3)and 126.0(61.0-223.2),respectively),while the highest incidence in ageing countries was in China(5797556.9(4599403.4-7133006.5),330256.1(246448.9-445987.4)and 1067.7(556.2-1775.9),respectively).DALYs for these disorders were similar,with the highest in Japan and China.From 1990 to 2019,the ASIR for depressive disorders decreased in aged countries but increased in ageing countries;the ASIR for anxiety disorders and schizophrenia declined in both ageing and aged countries.The ASDR for depressive disorders was consistent with the ASIR but not for anxiety disorders and schizophrenia.The ASIR for depressive disorders was higher in older women,while the opposite was observed in anxiety disorders and schizophrenia.Notably,the conditions of burden of depressive disorders,anxiety disorders and schizophrenia in the 65-70-year-old age group were the most burdensome.Conclusions The incidence and DALYs of these three mental disorders increased while exhibiting differences between ageing and aged countries.Raising awareness about formulating health policies for preventing and treating mental disorders in the older population is necessary to reduce the future burden posed by the ageing challenge.展开更多
Chara cterized by positive symptoms(such as changes in behavior or thoughts,including delusions and hallu cinations),negative symptoms(such as apathy,anhedonia,and social withdrawal),and cognitive impairments,schizoph...Chara cterized by positive symptoms(such as changes in behavior or thoughts,including delusions and hallu cinations),negative symptoms(such as apathy,anhedonia,and social withdrawal),and cognitive impairments,schizophrenia is a chro nic,severe,and disabling mental disorder with late adolescence or early adulthood onset,Antipsychotics are the most commonly used drugs to treat schizophrenia,but those currently in use do not fully reverse all three types of symptoms characte rizing this condition.Schizophrenia is frequently misdiagnosed,resulting in a delay of or inappropriate treatment.Abnormal expression of microRNAs is connected to brain development and disease and could provide novel biomarkers for the diagnosis and prognosis of schizophrenia.The recent studies reviewed included microRNA profiling in blood-and urine-based materials and nervous tissue mate rials.From the studies that had validated the preliminary findings,potential candidate biomarkers for schizophrenia in adults could be miR-22-3p,-30e-5p,-92a-3p,-148b-5p,-181a-3p,-181a-5p,-181b-5p,-199 b-5p,-137 in whole blood,and miR-130b,-193a-3p in blood plasma.Antipsychotic treatment of schizophrenia patients was found to modulate the expression of certain microRNAs including miR-130b,-193a-3p,-132,-195,-30e,-432 in blood plasma.Further studies are warranted with adolescents and young adults having schizophrenia and consideration should be given to using animal models of the disorder to investigate the effect of suppressing or overexpressing specific microRNAs.展开更多
文摘Rh血型系统是输血医学中重要的常规检测血型系统,因RhD血型不合引起的溶血性输血反应及新生儿溶血病一直以来倍受临床重视。本研究报道了2例罕见的RHD基因变异型RHD*DEL37个体的血清学和基因特征,这2例个体的血液样本经血清学方法(试管法和微柱凝胶法)鉴定为RhD阴性。采用聚合酶链反应-序列特异性引物(polymerase chain reaction-sequence specific prime,PCR-SSP)对样本进行RHD基因分型和合子型分析,基因分型结果为RHD基因阳性,并排除了常见的几种RHD基因变异体的可能。RHD基因合子型检测阳性,证明其中一条RHD等位基因1~10外显子全部缺失。进一步对样本RHD基因1~10外显子基因进行Sanger法测序,测序结果显示在另一条等位基因第8内含子上的第1154-31号碱基发生了T>C突变,国际输血协会(International Society of Blood Transfusion,ISBT)将该突变等位基因命名为RHD*DEL37,表型为RhD放散型(D-elute,Del)。本研究中,2例血清学初筛RhD阴性的样本通过分子生物学检测,其基因型为RHD*DEL37/RHD-(RHD*01N.01)。由于这2例个体无血缘关系,提示我国可能存在携带该基因突变的人群。本研究提示分子生物学方法可辅助鉴别血清学初筛为阴性的RhD变异体样本,联用分子生物学方法和血清学方法在准确鉴定血型、保障患者输血安全方面有重要意义。
基金Shanghai'Science and Technology Innovation Action Plan'medical innovation research(21Y11905600)Shanghai'Science and Technology Innovation Action Plan'Natural Science Foundation of Shanghai(21ZR1455100)+1 种基金the National Natural Science Foundation of China(81701344)the Shanghai Mental Health Center General Projects(2021-YJ-02).
文摘Background Depression,anxiety and schizophrenia among older persons have become global public health challenges.However,the burden of these disorders in ageing and aged countries has not been analysed.Aims To investigate the burden of depression,anxiety and schizophrenia among older adults in ageing and aged countries.Methods Using data from the Global Burden of Disease Study 2019,we calculated the estimated annual percentage change(EAPC)in the age-standardised incidence rates(ASiR)and age-standardised disability-adjusted life years(DALYs)rates(ASDR)for depression,anxiety and schizophrenia of older people in ageing countries(China,India,Indonesia)and aged countries(Japan,Italy,Portugal)between 1990 and 2019.Trends in incidence and DALYs were analysed by gender and age.Results In 2019,the highest incidence of depression,anxiety and schizophrenia in the older population in aged countries was in Japan(927271.3(752552.3-1125796.5),51498.2(37625.7-70487.3)and 126.0(61.0-223.2),respectively),while the highest incidence in ageing countries was in China(5797556.9(4599403.4-7133006.5),330256.1(246448.9-445987.4)and 1067.7(556.2-1775.9),respectively).DALYs for these disorders were similar,with the highest in Japan and China.From 1990 to 2019,the ASIR for depressive disorders decreased in aged countries but increased in ageing countries;the ASIR for anxiety disorders and schizophrenia declined in both ageing and aged countries.The ASDR for depressive disorders was consistent with the ASIR but not for anxiety disorders and schizophrenia.The ASIR for depressive disorders was higher in older women,while the opposite was observed in anxiety disorders and schizophrenia.Notably,the conditions of burden of depressive disorders,anxiety disorders and schizophrenia in the 65-70-year-old age group were the most burdensome.Conclusions The incidence and DALYs of these three mental disorders increased while exhibiting differences between ageing and aged countries.Raising awareness about formulating health policies for preventing and treating mental disorders in the older population is necessary to reduce the future burden posed by the ageing challenge.
文摘Chara cterized by positive symptoms(such as changes in behavior or thoughts,including delusions and hallu cinations),negative symptoms(such as apathy,anhedonia,and social withdrawal),and cognitive impairments,schizophrenia is a chro nic,severe,and disabling mental disorder with late adolescence or early adulthood onset,Antipsychotics are the most commonly used drugs to treat schizophrenia,but those currently in use do not fully reverse all three types of symptoms characte rizing this condition.Schizophrenia is frequently misdiagnosed,resulting in a delay of or inappropriate treatment.Abnormal expression of microRNAs is connected to brain development and disease and could provide novel biomarkers for the diagnosis and prognosis of schizophrenia.The recent studies reviewed included microRNA profiling in blood-and urine-based materials and nervous tissue mate rials.From the studies that had validated the preliminary findings,potential candidate biomarkers for schizophrenia in adults could be miR-22-3p,-30e-5p,-92a-3p,-148b-5p,-181a-3p,-181a-5p,-181b-5p,-199 b-5p,-137 in whole blood,and miR-130b,-193a-3p in blood plasma.Antipsychotic treatment of schizophrenia patients was found to modulate the expression of certain microRNAs including miR-130b,-193a-3p,-132,-195,-30e,-432 in blood plasma.Further studies are warranted with adolescents and young adults having schizophrenia and consideration should be given to using animal models of the disorder to investigate the effect of suppressing or overexpressing specific microRNAs.
