Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

Objective:To systematically analyze the promoting and hindering factors of physical activity during chemotherapy for children with cancer by Meta-synthesis method, so as to provide a basis for the subsequent formulation of scientific and standardized physical activity strategies.Methods:Databases of PubMed, Web of Science, Cochrane Library, Embase, PsycINFO, CINAHL, China National Knowledge Infrastructure, Wanfang Database, VIP database and China Biomedical Literature Database were retrieved on qualitative research about the experiences of physical activity in children with cancer during chemotherapy and the caregivers′ perceptions of the factors influencing physical activity in children with cancer. The retrieval period is from the establishment of the databases to January 31, 2024. The quality of the literature was evaluated according to Joanna Briggs Institute Evidence Based Healthcare Center Critical for qualitative studies in Australia. The pooled integration method was used to Meta-synthesis the research results such as research topic, implicit meaning and classification.Results:A total of 7 studies were included, and 26 research results were obtained through Meta-synthesis, similar research results were classified into 7 new categories, and finally 2 integrated results were formed:the hindering factors of physical activity in children with cancer during chemotherapy; the promoting factors of physical activity in children with cancer during chemotherapy.Conclusions:During hospitalization for chemotherapy in children with cancer, health care professionals should pay attention to the positive impact of physical activity on children, strive to overcome the obstacles to physical activity, and formulate a scientific and personalized physical activity strategy in combination with each child′s unique condition and personal needs.

Objective:To investigate the distribution of CGG repeat numbers in the FMR1 gene among reproductive-age women in China, providing data reference for carrier screening and genetic counseling of Fragile X syndrome. Methods:This cross-sectional study recruited 16 610 reproductive-age women from 12 medical institutions between July 2022 and October 2023. Peripheral venous blood samples (3 mL) were collected, and genomic DNA was extracted. The number of CGG repeats in the FMR1 gene was determined using the triplet-primed polymerase chain reaction (TP-PCR) combined with capillary electrophoresis technology. Statistical analyses were performed to assess the prevalence and distribution of CGG repeat expansions. Results:Among 16 610 women of childbearing age, 5 684 (34.220%) women had the same number of CGG repeats in the two alleles of FMR1 gene, and 10 926 (65.780%) women had different numbers of repeats in the two alleles. Among the 33 220 FMR1 alleles in 16 610 women of reproductive age, the most common CGG repeat numbers were 29 [48.645% (16 160/33 220)] and 30 [26.276% (8 729/33 220)], while the most frequent CGG genotype was CGG 29/29 [24.726% (4 107/16 610)]. The CGG repeat numbers of FMR1 gene were normal in 16 498 women (99.326%). Among the 112 women (0.674%) with CGG repeat abnormities, 96 (0.578%) women were classified as intermediate carriers, 15 (0.090%) as premutation carriers, and 1 (0.006%) as a full mutation carrier, whose CGG genotype was (36, >200). Conclusion:In the general reproductive-age female population in China, the normal CGG repeat numbers of the FMR1 gene account for 99.326%, while the intermediate carrier rate is 0.578%, and the combined carrier rate of the premutation and full mutation types is 0.096%.

Objective To investigate the current status of family resilience of children with cancer and analyze its influencing factors,to provide a basis for medical staff to formulate intervention plans.Methods Using a convenient sampling method,children with cancer who were hospitalized in 2 tertiary hospitals in Henan Province from January to April 2024 were selected for the survey.A general information questionnaire,family resilience assessment scale,quality of life family version,ZBI caregiver burden interview,and social support rating scale were used to understand the current status of family resilience of children with cancer and to explore the related influencing factors by univariate analysis and multiple stepwise linear regression analysis.Results A total of 280 questionnaires were distributed and 265 valid questionnaires were recovered,with a valid questionnaire recovery rate of 94.64％.The total score of family resilience for primary caregivers of children with cancer was(185.63±30.66).The multiple stepwise linear regression analysis results showed that the children's self-care ability,caregiver's work status,family care burden,and social support level were the influencing factors for family resilience of children with cancer(P＜0.05),and the explanatory variance was 51.3％.Conclusion The family resilience of children with cancer is at a medium level.The worse the children's self-care ability and the heavier the family care burden,the worse the family resilience;the caregiver's work status and good social support are helpful for the family resilience of children with cancer.Healthcare workers should develop intervention programs to address these factors to enhance the family resilience of children with cancer.

Objective To investigate the current status of family resilience of children with cancer and analyze its influencing factors,to provide a basis for medical staff to formulate intervention plans.Methods Using a convenient sampling method,children with cancer who were hospitalized in 2 tertiary hospitals in Henan Province from January to April 2024 were selected for the survey.A general information questionnaire,family resilience assessment scale,quality of life family version,ZBI caregiver burden interview,and social support rating scale were used to understand the current status of family resilience of children with cancer and to explore the related influencing factors by univariate analysis and multiple stepwise linear regression analysis.Results A total of 280 questionnaires were distributed and 265 valid questionnaires were recovered,with a valid questionnaire recovery rate of 94.64％.The total score of family resilience for primary caregivers of children with cancer was(185.63±30.66).The multiple stepwise linear regression analysis results showed that the children's self-care ability,caregiver's work status,family care burden,and social support level were the influencing factors for family resilience of children with cancer(P＜0.05),and the explanatory variance was 51.3％.Conclusion The family resilience of children with cancer is at a medium level.The worse the children's self-care ability and the heavier the family care burden,the worse the family resilience;the caregiver's work status and good social support are helpful for the family resilience of children with cancer.Healthcare workers should develop intervention programs to address these factors to enhance the family resilience of children with cancer.

Objective:To systematically analyze the promoting and hindering factors of physical activity during chemotherapy for children with cancer by Meta-synthesis method, so as to provide a basis for the subsequent formulation of scientific and standardized physical activity strategies.Methods:Databases of PubMed, Web of Science, Cochrane Library, Embase, PsycINFO, CINAHL, China National Knowledge Infrastructure, Wanfang Database, VIP database and China Biomedical Literature Database were retrieved on qualitative research about the experiences of physical activity in children with cancer during chemotherapy and the caregivers′ perceptions of the factors influencing physical activity in children with cancer. The retrieval period is from the establishment of the databases to January 31, 2024. The quality of the literature was evaluated according to Joanna Briggs Institute Evidence Based Healthcare Center Critical for qualitative studies in Australia. The pooled integration method was used to Meta-synthesis the research results such as research topic, implicit meaning and classification.Results:A total of 7 studies were included, and 26 research results were obtained through Meta-synthesis, similar research results were classified into 7 new categories, and finally 2 integrated results were formed:the hindering factors of physical activity in children with cancer during chemotherapy; the promoting factors of physical activity in children with cancer during chemotherapy.Conclusions:During hospitalization for chemotherapy in children with cancer, health care professionals should pay attention to the positive impact of physical activity on children, strive to overcome the obstacles to physical activity, and formulate a scientific and personalized physical activity strategy in combination with each child′s unique condition and personal needs.

OBJECTIVES: Patients with heart failure with reduced ejection fraction (HFrEF) often require diuretics during hospitalization to alleviate fluid retention and improve prognosis. However, the diuretic efficacy and renal impact of dapagliflozin in this population remain unclear. This study aims to investigate the effects of dapagliflozin on diuresis and renal function in hospitalized patients with HFrEF. METHODS: This retrospective analysis included clinical data from 200 hospitalized HFrEF patients treated at Xiangya Hospital of Central South University between January 2021 and September 2022. Patients were divided into 2 groups based on whether they received dapagliflozin: a standard treatment group (n=120) and a dapagliflozin treatment group (n=80). The following were compared between the 2 groups during hospitalization: The 24-hour average difference of liquid intake and output during the first 5 days, urine output, cumulative urine output, diuretic efficiency, estimated glomerular filtration rate (eGFR), N-terminal pro B-type natriuretic peptide (NT-proBNP), hospitalization costs, drug costs, and cost-effectiveness ratio (C/E). RESULTS: 1) Primary outcome: The 24-hour average difference of liquid intake and output during the first 5 days was significantly higher in the dapagliflozin treatment group than in the standard treatment group (P<0.05). 2) Secondary outcomes: The 24-hour average urine volume, cumulative urine volume and diuretic efficiency in the first 5 days of dapagliflozin treatment group were higher than those in the standard treatment group, and the differences were statistically significant (all P<0.05). Among patients with impaired renal function on admission [eGFR between 45 and 90 mL/(min·1.73 m²)], the change in eGFR after treatment was significantly smaller in the dapagliflozin treatment group (P<0.05). For patients with normal renal function on admission [eGFR >90 mL/(min·1.73 m²)], the difference in eGFR changes between 2 groups was not significant (P>0.05). NT-proBNP decreased more in the dapagliflozin treatment group than in the standard treatment group during hospitalization (P<0.05). 3) Other indicators: The length of hospital stay was longer in the dapagliflozin treatment group. However, discharge systolic blood pressure, drug costs, and hospitalization costs were all higher in the standard group, though differences were not statistically significant (all P>0.05). The C/E was more favorable in the dapagliflozin treatment group (425.36 vs. 476.67). CONCLUSIONS In hospitalized patients with chronic HFrEF, dapagliflozin treatment increased 24-hour average difference of liquid intake and output and total urine output, reduced NT-proBNP levels, and showed a milder decline in eGFR in those with pre-existing renal impairment. Discharge blood pressure, drug costs, and hospital stay were not significantly affected. While standard therapy may offer better short-term clinical benefits, dapagliflozin demonstrated a superior short-term cost-effectiveness profile.
Humans ; Benzhydryl Compounds/pharmacology* ; Glucosides/pharmacology* ; Retrospective Studies ; Male ; Female ; Heart Failure/physiopathology* ; Hospitalization ; Middle Aged ; Aged ; Glomerular Filtration Rate/drug effects* ; Diuretics/therapeutic use* ; Kidney/drug effects* ; Natriuretic Peptide, Brain/blood* ; Stroke Volume ; Peptide Fragments/blood* ; Diuresis/drug effects*

This research provides an overview of the perioperative nursing care for a patient with a massive renal cell carcinoma and Mayo Stage Ⅲ tumor thrombus who underwent a robot-assisted nephrectomy complicated by sig-nificant intraoperative bleeding and CO2 embolism.Key nursing considerations included multidisciplinary preoperative discussions,developing stepwise intraoperative emergency plans,establishing an integrated nursing workstation,and the optimization of patient monitoring.During the surgery,nursing efforts were focused on supporting the robot-as-sisted procedure,closely monitoring the patient's condition,preventing intraoperative complications,initiating emergency plans as needed,actively managing major bleeding and CO2 embolism,and implementing structured positioning to minimize the risk of falls during the procedure.Postoperatively,the focus was on preventing secondary thrombus formation,managing active bleeding,and monitoring for liver and kidney ischemia-reperfusion injury.Through multi-disciplinary interventions and meticulous nursing care,the patient was discharged after a 13-day postoperative recovery.

AIM:To observe the efficacy and safe-ty of combined lipid-lowering strategies in the ini-tial stage of treatment in"very high-risk ASCVD"pa-tients in cardiology outpatient clinics in a real-world prospective cohort study.METHODS:Pa-tients with"very high-risk ASCVD"from January to June 2021 were consecutively enrolled and divided into three groups according to the actual lipid-low-ering treatment strategies:Atorvastatin group;Atorvastatin combine with ezetimibe group;Atorv-astatin combine with evolocumab group.The pri-mary observation endpoints were the changes in LDL-C,Lp(a),and non-HDL-C after one month of treatment,and the secondary endpoints were the changes in TC,TG,HDL-C,Hs-CRP,and safety indica-tors.RESULTS:The efficacy of the combined lipid-lowering strategy in the initial stage of treatment was significantly better than that of the Atorvas-tatin group:LDL-C,Log[Lp(a)],non-HDL-C,TC sig-nificantly decreased(all P＜0.05).Compared with the Atorvastatin combine with Ezetimibe group,LDL-C and Log[Lp(a)]decreased significantly in the Atorvastatin combine with Evolocumab group(P＜0.05),and TC and TG had decreased insignifi-cantly(P＞0.05).When"LDL-C＜1.4mmol/L or＜1.8 mmol/L"is used as the standard for lipid-low-ering compliance,the LDL-C compliance rates of the two groups of combined lipid-lowering treat-ments are higher than those of the atorvastatin sin-gle-drug group.The differences were all statistically significant(all P＜0.05);the LDL-C compliance rate of the atorvastatin combined with evolocumab group was higher than that of the atorvastatin com-bined with ezetimibe group,and the differences were statistically significant(All P＜0.05).When the reduction rate of"LDL dropped by more than 50％"alone or in combination were used as the standard,no one in the three groups could reach the stan-dard.The liver aminotransferase levels had no signif-icant changes among the 3 groups after treatment(all P＞0.05).Myocardial enzyme isoenzyme(CK-MB)decreased among the 3 groups insignificantly(P＞0.05).Compared with the Atorvastatin group,the blood sugar(BS)of the two combined lipid-low-ering groups decreased significantly(P＜0.05);The BS of the Atorvastatin+ezetimibe group significant-ly decreased than that of Atorvastatin combine with Evolocumab group(P＜0.05).CONCLUSION:The lipid-lowering effect and LDL-C compliance rate of patients with"very high-risk ASCVD"in the cardi-ology outpatient department after 1 month of com-bined lipid-lowering treatment were better than those of the atorvastatin monotherapy group.When LDL-C＜1.4 mmol/L or＜1.8 mmol/L is the lip-id-lowering target,the LDL-C compliance rate after 1 month of treatment in the atorvastatin combined with evolocumab group is higher than that of the combined atorvastatin and zetamibu group.When the"LDL drop by more than 50％"is used as the standard for lipid lowering,it is difficult to reach the standard within 1 month.Outpatient"very high-risk ASCVD"patients were treated with initial combined lipid-lowering therapy for 1 month with-out adverse reactions.The initial combined lipid-lowering strategy can be used for patients with"very high-risk ASCVD"in cardiology outpatient clinics who need to achieve LDL-C values early.Atorvastatin combined with evolocumab strategy can be recommended for those patients who re-quire LDL-C＜1.4 mmol/L or＜1.8 mmol/L within one month.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.