Objective:To explore the incidence, clinical features, genetic variant characteristics and prognosis of Glutaric acidemia type I (GA1) among neonates from Henan Province.Methods:A total of 814 625 neonates undergoing screening for inherited metabolic diseases by tandem mass spectrometry (MS/MS) at the Third Affiliated Hospital of Zhengzhou University from January 2016 to December 2022 were selected as the study subjects. A retrospective method was adopted to collect the clinical data of the patients. Whole exome sequencing was carried out to detect GCDH gene variants in individuals with positive results by GA1 newborn screening, and Sanger sequencing was used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital (Approval Number: 2019 Medical Ethics Review No. 67). Results:Eight cases of GA1 were diagnosed among the 814 625 neonates. Blood glutaryl carnitine (C5DC) and urine glutaric acid (GA) levels of the 8 children were higher than the normal reference values. In total 12 variants were detected, all of which were missense variants. c. 1064G>A (p.Arg355His) was the most common one, accounting for 21.4% (3/14). Three GCDH gene variants, including 1297G>C (p.Ala433Pro), c. 467G>A (p.Gly156Asp) and c. 1125T>G (p.Cys375Trp), were previously unreported. REVEL software analysis predicted that all of the three variants were harmful. 3D protein structure modeling indicated that the three variants may cause amino acid residue alterations, and c. 1297G>C (p.Ala433Pro) and c. 1125T>G (p.Cys375Trp) may result in increase in hydrogen bonds and may affect the function of GCDH protein. By December 2023, one of the eight children had deceased, and another child had severe clinical symptoms with poor prognosis. Six children had a good prognosis, of which two had mild motor development delay and four had normal development without clinical symptoms. Conclusion:The incidence of GA1 in newborns screened by MS/MS in Henan Province is 1/101 828, and the carrier rate of pathogenic GCDH variants is 1/160. The c. 1064G>A (p.Arg355His) may be the hotspot variant of the GCDH gene among children with GA1 in Henan. Discovery of the three novel variants has enriched the mutational spectrum of the GCDH gene and provide a basis for the early diagnosis, treatment, prognosis and genetic counseling of this disease.

Objective:To understand the difficulties in the development of community-based integrated general and specialized medical care in Shanghai, and to provide a scientific basis for further proposing strategies to promote the development of integrated general and specialized medical care.Methods:A mixed-methods study was used in this study. In the first stage, a quantitative method was used. From August to December 2023, 30 community health centers (CHCs) were randomly selected from 239 CHCs in the city that provided integrated general specialist care. In each of these CHCs, a questionnaire was administered to a manager and a general practitioner involved in integrated care for specific diseases. The content of the questionnaire included general demographic information and questions related to the integration of general and specialized care, covering six aspects: community-specific disease diagnosis and treatment, examination items, drug configuration, patient sources, support from specialists, and referrals. In the second stage, a qualitative method was used. From January to February 2024, face-to-face semi-structured interviews were conducted with the managers and general practitioners of the CHCs who had completed the questionnaire survey in the previous stage, to further understand the reasons for the difficulties in integrating general and specialist care.Results:(1) Quantitative research: a total of 30 community health center managers and 30 general practitioners participated in the questionnaire survey. The survey found that the top four difficulties were: lack of technology for diagnosis and treatment of special diseases (49, 81.7%), shortage of clinical medical technical examination (36, 60.0%), and insufficient drug configuration (33, 55.0%) and few patients with special diseases in the community (33, 55.0%). (2) Qualitative research: 12 community health center managers and 10 general practitioners participated in the interviews. The interviews explained the difficulties identified in the research from different angles, such as "lack of support from higher-level medical institutions, lack of ancillary examinations and drugs, and a single form of cooperation between and lower-level medical institutions". At the same time, the interviewees mentioned the difficulty of "insufficient staff involved in community-based integrated care", which complemented the research.Conclusions:There are difficulties in many aspects of community-based comprehensive and specialized treatment, such as collaboration between hospitals and community health institutions, specialist and general practitioner resources, patient sources, specialized treatment-related examination items and drugs, which need to be solved in a variety of ways to further promote the development of community-based integration of general practice and specialty care.

OBJECTIVE: To explore the incidence, clinical features, genetic variant characteristics and prognosis of Glutaric acidemia type I (GA1) among neonates from Henan Province. METHODS: A total of 814 625 neonates undergoing screening for inherited metabolic diseases by tandem mass spectrometry (MS/MS) at the Third Affiliated Hospital of Zhengzhou University from January 2016 to December 2022 were selected as the study subjects. A retrospective method was adopted to collect the clinical data of the patients. Whole exome sequencing was carried out to detect GCDH gene variants in individuals with positive results by GA1 newborn screening, and Sanger sequencing was used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital (Ethics Number: 2019 Medical Ethics Review No. 67). RESULTS: Eight cases of GA1 were diagnosed among the 814 625 neonates. Blood glutaryl carnitine (C5DC) and urine glutaric acid (GA) levels of the 8 children were higher than the normal reference values. In total 12 variants were detected, all of which were missense variants. c.1064G>A (p.Arg355His) was the most common one, accounting for 21.4% (3/14). Three GCDH gene variants, including 1297G>C (p.Ala433Pro), c.467G>A (p.Gly156Asp) and c.1125T>G (p.Cys375Trp), were previously unreported. REVEL software analysis predicted that all of the three variants were harmful. 3D protein structure modeling indicated that the three variants may cause amino acid residue alterations, and c.1297G>C (p.Ala433Pro) and c.1125T>G (p.Cys375Trp) may result in increase in hydrogen bonds and affect the function of GCDH protein. By December 2023, one of the eight children had deceased, and another child had severe clinical symptoms with poor prognosis. Six children had a good prognosis, of which two had mild motor development delay and four had normal development without clinical symptoms. CONCLUSION The incidence of GA1 in newborns screened by MS/MS in Henan Province is 1/101 828, and the carrier rate of pathogenic GCDH variants is 1/160. The c.1064G>A (p.Arg355His) may be the hotspot variant of the GCDH gene among children with GA1 in Henan. Discovery of the three novel variants has enriched the mutational spectrum of the GCDH gene and provide a basis for the early diagnosis, treatment, prognosis and genetic counseling of this disease.
Humans ; Amino Acid Metabolism, Inborn Errors/epidemiology* ; Glutaryl-CoA Dehydrogenase/chemistry* ; Infant, Newborn ; Female ; Neonatal Screening/methods* ; Male ; Brain Diseases, Metabolic/epidemiology* ; China/epidemiology* ; Retrospective Studies ; Mutation ; Genetic Variation ; Glutarates

Objective:To translate the Birth Satisfaction Scale-Revised (BSS-R) into Chinese and assesses the psychometric properties of this tool.Methods:Following the Beaton cross-cultural adaptation guidelines, the Chinese version of BSS-R was formed through forward translation, back translation, expert consultation, and pre-testing. The present study was conducted in a sample of 347 women took part between 6-8 weeks postpartum, from the postpartum clinics of two tertiary hospitals in Sichuan province.Results:Totally 340 questionnaires were effectively collected with a majority of respondents aged 30-39 accounting for 64.7% of the total. The Chinese version of BSS-R comprises 10 items, which were classified into three domains as stress experienced during labour, women′s personal attributes, and quality of care provision. The Cronbach α coefficient was 0.745 for the total scale and ranged from 0.523 to 0.738 for sub-scales. The split-half reliability was 0.746 for the total scale, and ranged from 0.523 to 0.733 for sub-scales. Exploratory factor analysis revealed the presence of three components with eigen values greater than 1, explaining a total variance of 58.868%. The fit indices showed that the original correlated three factor model of Chinese version of BSS-R was adequate.Conclusions:The Chinese version of BSS-R can be considered a clear, easily understandable and convenient tool for assessing the women′s birth satisfaction in Chinese cultural context.

Objective To evaluate the safety and efficacy of the Neuroform EZ self expanding stent for severe symptomatic intracranial atherosclerotic stenosis(sICAS).Methods Retrospectively enrolled consecutive patients with severe sICAS who underwent percutaneous transluminal angioplasty and stenting(PTAS)with a Neuroform EZ stent in the Department of Cerebrovascular Disease,Henan Provincial People's Hospital,from March 2020 to December 2022.Baseline demographic and clinical data were collected,including age,sex,hypertension,diabetes mellitus,coronary artery disease,dyslipidemia,hyperhomocysteinemia,transient ischemic attack(TIA)and ischemic stroke,smoking history,modified Rankin scale(mRS)score at admission,and National Institutes of Health stroke scale(NIHSS)score.Preoperative imaging data included target vessel(basilar artery,intracranial segment of the internal carotid artery,middle cerebral artery,and intracranial vertebral artery),lesion length,degree of stenosis,and vascular morphology according to the Mori classification(type A,lesion length＜5 mm with concentric or moderately eccentric stenosis;type B,lesion length＜10 mm with severely eccentric stenosis;type C,lesion length＞10 mm or arterial angulation＞90°).Technical success was defined as accurate delivery and deployment of the stent with complete coverage of the target lesion and immediate post deployment residual stenosis＜50%.Postoperative head CT was performed to detect intracranial hemorrhage.Periprocedural complications were recorded,including intracranial hemorrhage,arterial dissection,in stent thrombosis,and perforator occlusion occurring intraoperatively within 72 hours after the procedure.At one-month post-operation,patients were seen through outpatient follow-up for TIA,hemorrhagic or ischemic stroke,and all cause death.At 6 months after surgery,DSA or CT angiography(CTA)was performed to assess in stent restenosis(ISR,defined as＞50%stenosis within the stent or within5mm of its edges,or＞20%luminal loss).At 1 and 2 years postoperatively,ipsilateral ischemic stroke or TIA recurrence was assessed by outpatient visit or telephone follow up.Results A total of 76 patients with severe sICAS underwent PTAS with a Neuroform EZ stent(56 males,20 females,age 47-80 years,with a mean age of[61±10]years).(1)Within all patients enrolled,40 had middle cerebral artery,16 with basilar artery,6 with intracranial vertebral artery and 14 with intracranial internal carotid artery.The preprocedural lesion length was 2-15 mm,with a mean length of(6.2±2.5)mm,and stenosis severity was70%-99%,the mean severity was(83.2±6.9)%,with Mori type B being the most common type(57.9%[44/76]).(2)PTAS was successfully completed on all patients(technical success 100%).Pre dilation with a conventional balloon was performed in all cases(using balloon with diameter of 1.5-3.5mm,and stent with diameter of 2.5-4.5 mm and length of 15-30 mm).Immediate post procedural residual stenosis was(17.4±9.0)%,significantly lower than baseline(t=52.9,P＜0.05),with a mean difference of 65.8%(95%CI63.3%-68.3%).(3)Among all 76patients,one patient developed a flow limiting dissection post balloon angioplasty,which recovered after stent deployment.One patient with basilar artery stenosis experienced recurrent ischemic stroke at 5-day postoperatively,presenting with right sided weakness and coughing on liquids.Imaging showed an acute infarct in the left pons,considered perforator occlusion.The overall periprocedural complication rate was 2.6%(2/76).(4)No deaths occurred within 30 days after surgery.Sixty nine patients(90.8%)underwent 6 month imaging follow up with DSA(52 cases)or CTA(17 cases).ISR occurred in 12 patients(17.4%),including 6 asymptomatic and 6symptomatic cases.The ipsilateral ischemic stroke recurrence rate was 6.6%(5/76)at1 year and13.2%(10/76)at2years.Conclusions Neuroform EZstent assisted PTASappears safe and feasible for the treatment of severe sICAS.The long term effectiveness requires confirmation in large,multicenter,prospective studies.

Objective:To translate the Birth Satisfaction Scale-Revised (BSS-R) into Chinese and assesses the psychometric properties of this tool.Methods:Following the Beaton cross-cultural adaptation guidelines, the Chinese version of BSS-R was formed through forward translation, back translation, expert consultation, and pre-testing. The present study was conducted in a sample of 347 women took part between 6-8 weeks postpartum, from the postpartum clinics of two tertiary hospitals in Sichuan province.Results:Totally 340 questionnaires were effectively collected with a majority of respondents aged 30-39 accounting for 64.7% of the total. The Chinese version of BSS-R comprises 10 items, which were classified into three domains as stress experienced during labour, women′s personal attributes, and quality of care provision. The Cronbach α coefficient was 0.745 for the total scale and ranged from 0.523 to 0.738 for sub-scales. The split-half reliability was 0.746 for the total scale, and ranged from 0.523 to 0.733 for sub-scales. Exploratory factor analysis revealed the presence of three components with eigen values greater than 1, explaining a total variance of 58.868%. The fit indices showed that the original correlated three factor model of Chinese version of BSS-R was adequate.Conclusions:The Chinese version of BSS-R can be considered a clear, easily understandable and convenient tool for assessing the women′s birth satisfaction in Chinese cultural context.

Objective To evaluate the safety and efficacy of the Neuroform EZ self expanding stent for severe symptomatic intracranial atherosclerotic stenosis(sICAS).Methods Retrospectively enrolled consecutive patients with severe sICAS who underwent percutaneous transluminal angioplasty and stenting(PTAS)with a Neuroform EZ stent in the Department of Cerebrovascular Disease,Henan Provincial People's Hospital,from March 2020 to December 2022.Baseline demographic and clinical data were collected,including age,sex,hypertension,diabetes mellitus,coronary artery disease,dyslipidemia,hyperhomocysteinemia,transient ischemic attack(TIA)and ischemic stroke,smoking history,modified Rankin scale(mRS)score at admission,and National Institutes of Health stroke scale(NIHSS)score.Preoperative imaging data included target vessel(basilar artery,intracranial segment of the internal carotid artery,middle cerebral artery,and intracranial vertebral artery),lesion length,degree of stenosis,and vascular morphology according to the Mori classification(type A,lesion length＜5 mm with concentric or moderately eccentric stenosis;type B,lesion length＜10 mm with severely eccentric stenosis;type C,lesion length＞10 mm or arterial angulation＞90°).Technical success was defined as accurate delivery and deployment of the stent with complete coverage of the target lesion and immediate post deployment residual stenosis＜50%.Postoperative head CT was performed to detect intracranial hemorrhage.Periprocedural complications were recorded,including intracranial hemorrhage,arterial dissection,in stent thrombosis,and perforator occlusion occurring intraoperatively within 72 hours after the procedure.At one-month post-operation,patients were seen through outpatient follow-up for TIA,hemorrhagic or ischemic stroke,and all cause death.At 6 months after surgery,DSA or CT angiography(CTA)was performed to assess in stent restenosis(ISR,defined as＞50%stenosis within the stent or within5mm of its edges,or＞20%luminal loss).At 1 and 2 years postoperatively,ipsilateral ischemic stroke or TIA recurrence was assessed by outpatient visit or telephone follow up.Results A total of 76 patients with severe sICAS underwent PTAS with a Neuroform EZ stent(56 males,20 females,age 47-80 years,with a mean age of[61±10]years).(1)Within all patients enrolled,40 had middle cerebral artery,16 with basilar artery,6 with intracranial vertebral artery and 14 with intracranial internal carotid artery.The preprocedural lesion length was 2-15 mm,with a mean length of(6.2±2.5)mm,and stenosis severity was70%-99%,the mean severity was(83.2±6.9)%,with Mori type B being the most common type(57.9%[44/76]).(2)PTAS was successfully completed on all patients(technical success 100%).Pre dilation with a conventional balloon was performed in all cases(using balloon with diameter of 1.5-3.5mm,and stent with diameter of 2.5-4.5 mm and length of 15-30 mm).Immediate post procedural residual stenosis was(17.4±9.0)%,significantly lower than baseline(t=52.9,P＜0.05),with a mean difference of 65.8%(95%CI63.3%-68.3%).(3)Among all 76patients,one patient developed a flow limiting dissection post balloon angioplasty,which recovered after stent deployment.One patient with basilar artery stenosis experienced recurrent ischemic stroke at 5-day postoperatively,presenting with right sided weakness and coughing on liquids.Imaging showed an acute infarct in the left pons,considered perforator occlusion.The overall periprocedural complication rate was 2.6%(2/76).(4)No deaths occurred within 30 days after surgery.Sixty nine patients(90.8%)underwent 6 month imaging follow up with DSA(52 cases)or CTA(17 cases).ISR occurred in 12 patients(17.4%),including 6 asymptomatic and 6symptomatic cases.The ipsilateral ischemic stroke recurrence rate was 6.6%(5/76)at1 year and13.2%(10/76)at2years.Conclusions Neuroform EZstent assisted PTASappears safe and feasible for the treatment of severe sICAS.The long term effectiveness requires confirmation in large,multicenter,prospective studies.

Objective:To explore the incidence, clinical features, genetic variant characteristics and prognosis of Glutaric acidemia type I (GA1) among neonates from Henan Province.Methods:A total of 814 625 neonates undergoing screening for inherited metabolic diseases by tandem mass spectrometry (MS/MS) at the Third Affiliated Hospital of Zhengzhou University from January 2016 to December 2022 were selected as the study subjects. A retrospective method was adopted to collect the clinical data of the patients. Whole exome sequencing was carried out to detect GCDH gene variants in individuals with positive results by GA1 newborn screening, and Sanger sequencing was used to verify the candidate variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital (Approval Number: 2019 Medical Ethics Review No. 67). Results:Eight cases of GA1 were diagnosed among the 814 625 neonates. Blood glutaryl carnitine (C5DC) and urine glutaric acid (GA) levels of the 8 children were higher than the normal reference values. In total 12 variants were detected, all of which were missense variants. c. 1064G>A (p.Arg355His) was the most common one, accounting for 21.4% (3/14). Three GCDH gene variants, including 1297G>C (p.Ala433Pro), c. 467G>A (p.Gly156Asp) and c. 1125T>G (p.Cys375Trp), were previously unreported. REVEL software analysis predicted that all of the three variants were harmful. 3D protein structure modeling indicated that the three variants may cause amino acid residue alterations, and c. 1297G>C (p.Ala433Pro) and c. 1125T>G (p.Cys375Trp) may result in increase in hydrogen bonds and may affect the function of GCDH protein. By December 2023, one of the eight children had deceased, and another child had severe clinical symptoms with poor prognosis. Six children had a good prognosis, of which two had mild motor development delay and four had normal development without clinical symptoms. Conclusion:The incidence of GA1 in newborns screened by MS/MS in Henan Province is 1/101 828, and the carrier rate of pathogenic GCDH variants is 1/160. The c. 1064G>A (p.Arg355His) may be the hotspot variant of the GCDH gene among children with GA1 in Henan. Discovery of the three novel variants has enriched the mutational spectrum of the GCDH gene and provide a basis for the early diagnosis, treatment, prognosis and genetic counseling of this disease.

Objective:To understand the difficulties in the development of community-based integrated general and specialized medical care in Shanghai, and to provide a scientific basis for further proposing strategies to promote the development of integrated general and specialized medical care.Methods:A mixed-methods study was used in this study. In the first stage, a quantitative method was used. From August to December 2023, 30 community health centers (CHCs) were randomly selected from 239 CHCs in the city that provided integrated general specialist care. In each of these CHCs, a questionnaire was administered to a manager and a general practitioner involved in integrated care for specific diseases. The content of the questionnaire included general demographic information and questions related to the integration of general and specialized care, covering six aspects: community-specific disease diagnosis and treatment, examination items, drug configuration, patient sources, support from specialists, and referrals. In the second stage, a qualitative method was used. From January to February 2024, face-to-face semi-structured interviews were conducted with the managers and general practitioners of the CHCs who had completed the questionnaire survey in the previous stage, to further understand the reasons for the difficulties in integrating general and specialist care.Results:(1) Quantitative research: a total of 30 community health center managers and 30 general practitioners participated in the questionnaire survey. The survey found that the top four difficulties were: lack of technology for diagnosis and treatment of special diseases (49, 81.7%), shortage of clinical medical technical examination (36, 60.0%), and insufficient drug configuration (33, 55.0%) and few patients with special diseases in the community (33, 55.0%). (2) Qualitative research: 12 community health center managers and 10 general practitioners participated in the interviews. The interviews explained the difficulties identified in the research from different angles, such as "lack of support from higher-level medical institutions, lack of ancillary examinations and drugs, and a single form of cooperation between and lower-level medical institutions". At the same time, the interviewees mentioned the difficulty of "insufficient staff involved in community-based integrated care", which complemented the research.Conclusions:There are difficulties in many aspects of community-based comprehensive and specialized treatment, such as collaboration between hospitals and community health institutions, specialist and general practitioner resources, patient sources, specialized treatment-related examination items and drugs, which need to be solved in a variety of ways to further promote the development of community-based integration of general practice and specialty care.

Objective:To survey the quality of medical care and management for chronic obstructive pulmonary disease (COPD) in Shanghai community health service centers.Methods:A questionnaire survey on the institutional capacity for COPD care was conducted among 248 community health service centers in Shanghai from October to November 2023; the contents of self-designed questionnaire included the equipment, drugs, technical support, information exchange and management of COPD in the institutions. At the same time, a questionnaire survey on the knowledge and skill of COPD care was also conducted among half of all physicians selected by stratified sampling from half of the institutions selected by the random cluster sampling, including the knowledge about early screening, diagnosis, treatment and management of COPD, and related training needs .Results:(1)Survey results showed that the most common equipment for diagnosis and treatment of COPD available in community health centers was pulse oxygen saturation detector (97.6%, 242/248), X-ray radiography (96.8%, 240/248) and nebulizer (96.0%, 238/248), The availability of 6-min walking test system, non-invasive ventilator and rehabilitation training instrument in urban community health service centers was higher than that in rural ones ( P<0.05). The availability rates of common COPD drugs in community health service centers were theophylline (91.5%, 227/248), oral glucocorticoid (85.9%, 213/248), intravenous glucocorticoid (81.0%, 201/248), the availability of oral and intravenous glucocorticoids in urban community health service centers was higher than that in rural ones ( P<0.05). The availability rates of COPD diagnosis and treatment techniques were 95.6% (213/248) for pulmonary function test, 93.5% (232/248) for pulse oxygen saturation test, and 53.2% (132/248) for non-invasive respiratory therapy. The availability rate of pulmonary function test, blood gas analysis, non-invasive ventilation and rehabilitation in urban centers was higher than that in rural centers ( P<0.05). Early screening of COPD was conducted in 85.1% (211/248) of community health service centers, the health record system and referral system were established in 66.5% (165/248) and 62.9% (156/248) of centers, respectively; and the establishment of outpatient and referral channels for respiratory diseases in urban areas was higher than that in rural areas ( P<0.05). (2)A total of 1 873 community doctors, aged(38.9±7.8)years and with (15.5±9.1)years of working experience, participated in the COPD knowledge and skill survey. The survey showed that 79.3% participants (1 485/1 873) knew the concept of COPD, 52.6% (986/1 873) mastered the diagnostic criteria, 41.6% (779/1 873) knew the risk factors and 15.5% (291/1 873) mastered the application of glucocorticoids. More than 79% of the community doctors showed the needs for training of knowledge, skills, rehabilitation of COPD and the performance of pulmonary function tests. Conclusion:Availability of COPD diagnosis and treatment equipment in community health center in Shanghai is different, and the availability of basic diagnosis and treatment equipment and drugs is better. The knowledge, skills and management of COPD need to be improved for community doctors, particularly in clinical application of pulmonary function test and active case finding.