Objective: This study aimed to systematically evaluate potential causal relationships between nine cathepsins and female infertility using Mendelian randomization (MR) methods. Methods: A bidirectional MR analysis was conducted utilizing single nucleotide polymorphisms as instrumental variables to investigate the potential causal effects between nine cathepsins and female infertility. Genetic data on female infertility were sourced from the FinnGen study, and cathepsin-related data were obtained from genome-wide association studies datasets of European ancestry. Results: Elevated levels of cathepsin E were significantly and inversely associated with the risk of female infertility, suggesting a potential protective role. This finding was further supported by multivariable MR analysis. However, no significant associations were observed between the other eight cathepsins and female infertility. Conclusion This study represents the first systematic MR analysis to identify a potential protective effect of cathepsin E on female infertility.

Objective: This study aimed to systematically evaluate potential causal relationships between nine cathepsins and female infertility using Mendelian randomization (MR) methods. Methods: A bidirectional MR analysis was conducted utilizing single nucleotide polymorphisms as instrumental variables to investigate the potential causal effects between nine cathepsins and female infertility. Genetic data on female infertility were sourced from the FinnGen study, and cathepsin-related data were obtained from genome-wide association studies datasets of European ancestry. Results: Elevated levels of cathepsin E were significantly and inversely associated with the risk of female infertility, suggesting a potential protective role. This finding was further supported by multivariable MR analysis. However, no significant associations were observed between the other eight cathepsins and female infertility. Conclusion This study represents the first systematic MR analysis to identify a potential protective effect of cathepsin E on female infertility.

Objective: This study aimed to systematically evaluate potential causal relationships between nine cathepsins and female infertility using Mendelian randomization (MR) methods. Methods: A bidirectional MR analysis was conducted utilizing single nucleotide polymorphisms as instrumental variables to investigate the potential causal effects between nine cathepsins and female infertility. Genetic data on female infertility were sourced from the FinnGen study, and cathepsin-related data were obtained from genome-wide association studies datasets of European ancestry. Results: Elevated levels of cathepsin E were significantly and inversely associated with the risk of female infertility, suggesting a potential protective role. This finding was further supported by multivariable MR analysis. However, no significant associations were observed between the other eight cathepsins and female infertility. Conclusion This study represents the first systematic MR analysis to identify a potential protective effect of cathepsin E on female infertility.

Objective: This study aimed to systematically evaluate potential causal relationships between nine cathepsins and female infertility using Mendelian randomization (MR) methods. Methods: A bidirectional MR analysis was conducted utilizing single nucleotide polymorphisms as instrumental variables to investigate the potential causal effects between nine cathepsins and female infertility. Genetic data on female infertility were sourced from the FinnGen study, and cathepsin-related data were obtained from genome-wide association studies datasets of European ancestry. Results: Elevated levels of cathepsin E were significantly and inversely associated with the risk of female infertility, suggesting a potential protective role. This finding was further supported by multivariable MR analysis. However, no significant associations were observed between the other eight cathepsins and female infertility. Conclusion This study represents the first systematic MR analysis to identify a potential protective effect of cathepsin E on female infertility.

Objective: This study aimed to systematically evaluate potential causal relationships between nine cathepsins and female infertility using Mendelian randomization (MR) methods. Methods: A bidirectional MR analysis was conducted utilizing single nucleotide polymorphisms as instrumental variables to investigate the potential causal effects between nine cathepsins and female infertility. Genetic data on female infertility were sourced from the FinnGen study, and cathepsin-related data were obtained from genome-wide association studies datasets of European ancestry. Results: Elevated levels of cathepsin E were significantly and inversely associated with the risk of female infertility, suggesting a potential protective role. This finding was further supported by multivariable MR analysis. However, no significant associations were observed between the other eight cathepsins and female infertility. Conclusion This study represents the first systematic MR analysis to identify a potential protective effect of cathepsin E on female infertility.

Objectives:To identify the two-dimensional speckle tracking imaging (2D-STI)-derived longitudinal strain indices that reflect the myocardial functional characteristics of patients with apical hypertrophic cardiomyopathy (AHCM). Methods:This retrospective study included 30 patients with typical AHCM diagnosed at the First Affiliated Hospital of Fujian Medical University from January 2015 to May 2019 (AHCM group),35 patients with essential hypertensive left ventricular hypertrophy (HTLVH group),and 45 healthy volunteers (normal control group) were also included.Two-dimensional echocardiography was used to measure the cardiac chamber size and wall thickness,and 2D-STI was used to analyze the longitudinal strain during the left ventricular systolic phase,the global longitudinal strain (GLS) and the longitudinal strain of the apical,mid,and basal segments (LSA,LSM,LSB) were assessed.The ratios of the apical to the overall and other segmental longitudinal strains were used as the apical relative longitudinal strain indices,including the apical to basal longitudinal strain ratio (ABLR,LSA/LSB),the apical to global longitudinal strain ratio (AGLR,LSA/GLS),and the apical to basal-mid segment longitudinal strain ratio (ABMLR,LSA/[LSB+LSM]). Results:GLS was significantly lower in the AHCM group and HTLVH group than in the normal control group (both P<0.05),and was similar between the AHCM group and HTLVH group (P>0.05).The LSA,LSM,and LSB were also significantly lower in the AHCM group and HTLVH group than in the normal control group,LSA decrease was more significant in the AHCM group as compared to the HTLVH group,while the HTLVH group was mainly characterized by a decrease in LSB,which was significantly lower as compared to the AHCM group (all P<0.05).Compared with the normal control group,the ABLR,AGLR,and ABMLR were significantly reduced in the AHCM group,while significantly increased in the HTLVH group (all P<0.05).The ROC curve showed that the AUC of ABLR,AGLR,ABMLR,and LSA was 0.873 to 0.916,using<1.28 as the cutoff value of ABLR,the sensitivity was 90.0％ and specificity was 88.7％ for diagnosing AHCM. Conclusions:The apical relative longitudinal strain indices can reflect the myocardial functional characteristics of AHCM patients,which are better than single apical longitudinal strain value.As the most representative indice,ABLR may be useful in distinguishing AHCM from left ventricular hypertrophy caused by other diseases,and can be used as a parameter for the evaluation of myocardial function damage in AHCM.

An elderly female patient was admitted to Shenzhen Traditional Chinese Medicine Hospital on May 4, 2023, due to recurrent cough for 4 years and aggravation with fever for 6 days. Chest CT showed bronchiectasis with pulmonary infection. Sputum smear microscopy indicated the possibility of Nocardia, and sputum fungal culture revealed Aspergillus fumigatus. After several days of anti- Nocardia and anti- Aspergillus fumigatus treatment, the patient′s inflammatory index decreased but she still had a low-grade fever. Effective communication between the laboratory and clinicians facilitated the culture of bronchoalveolar lavage fluid and the detection of metagenomic next-generation sequencing. The patient made progress after receiving anti-infection treatment for three suspected pathogenic bacteria- Nocardia amamiensis, Mycobacterium tuberculosis, and Aspergillus fumigatus-detected by the above methods. For the diagnosis of coinfection, the combination of multiple methods can improve the accuracy of pathogen identification, thereby better guiding clinical treatment.

Objective: To analyze the improvement of executive function in children with attention deficit hyperactivity disorder (ADHD) aged 7-14 years with comprehensive intervention and drug therapy alone, to provide a basis for intervention research to improve ADHD. Methods: A total of 80 children with ADHD treated in the Third People s Hospital of Ganzhou from January 2021 to June 2022 were randomly divided into intervention group and control group. The intervention group received drug and comprehensive intervention therapy, and sensory integration training once a week for 60 to 90 min each for 12 weeks, and conduct related training for caregivers and school teachers, the control group received only drug therapy. The changes of executive function were assessed by the stroop color word association test and the Wisconsin Card Sorting Test (WCST) after 12 weeks of intervention. Results: After intervention, the results of the Stroop color word test in the intervention group (3.25±0.98, 4.92±1.40, 10.17±1.28) showed statistically significant differences ( t=12.94, 15.36, 26.34 , P <0.01) compared with those before intervention (6.47±1.92, 8.35±1.25, 16.55±1.57). There were also statistically significant differences ( t=6.76, 15.01, 16.15, P <0.01) in the control group ( 3.95 ±1.01, 5.45±1.15, 12.35±0.86) compared to those before intervention (6.17±1.87, 8.10±1.03, 16.02±1.38). Before intervention, the number of perseverative errors, non perseverative errors, and completed categories by WCST in the intervention group were (47.77±4.50, 35.50±2.37, 3.97±1.07), and in the control group were (46.45±7.34, 34.87±2.29, 3.70±1.11). After intervention, those of the intervention group and control group were (31.42±2.01, 24.75±2.05, 5.05±1.13) and (32.82±2.57, 25.55±1.04, 4.25±1.48), respectively. There were significant differences in the two groups before and after intervention ( t =21.93, 22.27 , -10.37; 10.84, 26.81, -6.90, P <0.01). After intervention, there were significant differences in the number of Stroop color word test errors, perseverative errors and non perseverative errors in WCST between the two groups ( t=-2.94, 2.29, -9.07, -2.35 , -2.06, P <0.05). Conclusion Through training for children and the therapy model of comprehensive intervention could significantly improve the executive function of children for a certain extent.

Objective:To analyze the gene mutation, clinical manifestations and prognosis of children with steroid resistant nephrotic syndrome (SRNS), and to provide reference for the treatment of hereditary SRNS in children.Methods:The clinical data of 29 patients with SRNS and whole exon sequencing (WES) diagnosed in Xi′an Children′s Hospital from January 1, 2018 to December 31, 2020 were retrospectively analyzed.Results:In 29 cases of SRNS with genetic testing, 10 cases (34.5%) were gene mutations, including 2 cases of congenital nephrotic syndrome. The onset age of the patients with gene mutation ranged from 0.1 to 10.7(4.06±3.73)years, and the median age of onset was 3.3 years. The clinical type was mainly nephritis (8/10), and the pathological type was mainly focal segmental glomerulosclerosis (FSGS) (5/7). The main mutant genes were NPHS1 (2 cases), NPHS2 (2 cases), WT1 (2 cases), SMARCAL1 (1 case), COQ8B (1 case), TRPC6 (1 case) and COL4A3 gene (1 case). The main types of genetic variation were missense mutations, and 6 (60%) cases were new mutations that had never been reported in the database containing human pathogenic mutations before. Compared with the non-gene mutation group, 24 hour urinary protein was higher [(177.92±164.59)mg/(kg·24 h) vs (84.99±40.79)mg/(kg·24 h)] in gene mutation group, with statistically significant difference ( P<0.05). In the gene mutation group, there were 2 cases of complete remission, including 1 case of complete remission treated with coenzyme Q10, 1 case of partial remission, and 8 cases of immunosuppression treatment, with an effective rate of 2/8, while in the non-gene mutation group, the effective rate of immunosuppression treatment was 17/19, with statistically significant difference in prognosis between the two groups ( P<0.05). Conclusions:The pathological type of children with hereditary SRNS is mainly FSGS, which are often ineffective to immunosuppressive therapy, poor prognosis and easy to progress to end-stage renal disease. Gene detection is of great significance for etiological diagnosis, treatment and prognosis evaluation in children with SRNS.

0bjective To analyze the clinical characteristics, pathological types, treatment and prognosis in children with steroid resistant nephrotic syndrome (SRNS) in Northwest China, in order to provide reference for the treatment of SRNS. Methods:The clinical data, renal pathological results, treatment plan and efficacy of 102 children diagnosed with SRNS in the Department of Nephrology, Xi'an Children's Hospital of Shaanxi Province from January 1st, 2018 to December thirty-first, 2020 were analyzed retrospectively. All children were divided into groups according to age, clinical classification, pathological type, treatment scheme and treatment outcome, and the risk factors affecting the prognosis of children with SRNS were discussed. The measurement datas conforming to normal distribution were expressed as xˉ± s, and t test was used for comparison between groups. Measurement datas that did not conform to normal distribution were represented by M ( Q1, Q3), and Kruskall-Wallis test was used for comparison between groups.Enumeration datas were compared by χ 2 test. Risk factors were analyzed by multiple factor Logistic regression analysis. Results:The median age of onset of 102 children with SRNS was 3.0 years. Focal segmental glomerulosclerosis (FSGS) accounted for 36.3% (37/102), minimal lesions accounted for 33.3% (34/102), and mesangial proliferative glomerulonephritis accounted for 23.5% (24/102). The prevalence rates of hypertension (35.1% (13/37)), 24-h urine protein quantification (130.5 (91.5, 159.6) mg/(kg·24 h) and renal insufficiency (21.6% (8/37)) in FSGS group were higher than those in non-FSGS group (13.8% (9/65), 65.8 (51.2,85.5) mg/(kg·24 h), 4.6% (3/65)). The differences between the two groups were statistically significant (statistical values were χ 2=6.32, Z=5.90, χ 2=7.09; P values were 0.012, <0.001, 0.008). Logistic multivariate regression analysis showed that the hypertension ( OR=4.055, 95% CI 1.178-3.962) and 24 hour urinary protein ( OR=1.036, 95% CI 1.020-1.053) were associated with the increased risk of FSGS ( P values were 0.026 and <0.001). ROC curve ananlysis showed that the optimal critical value of 24 hour urinary protein was 85.65 mg/(kg·24 h) in FSGS. After treatment, complete remission was 61.8%(63/102), partial remission was 14.7%(15/102), and no remission was 23.5%(24/102). By the end of follow-up the treatment effective rate in the small lesion group (94.1%(32/34)) was higher than that in the FSGS Group (51.3%(19/37)), and the difference between the two groups was statistically significant (χ 2=16.02, P<0.001). In the initial immunosuppressive treatment, the complete remission rate of hormone combined with calcineurin inhibitor group (77.1%(37/48)) was higher than that of hormone combined with cyclophosphamide Group (11.1%(3/27)). There was significant difference between the two groups ( Z=32.28, P<0.001). Conclusion:The most common pathological type in children with SRNS was FSGS, and the age of onset was generally small. The prognosis of patients with pathological type FSGS was the worst, and the prognosis of small lesions was better. Hypertension and 24-hour urinary protein quantification were the risk factors of FSGS. Calcineurin inhibitors were the first choice for the second-line immunosuppressants of SRNS in children.