Objective: To examine the mediating effect of frailty on social isolation and cognitive function among the elderly. Methods: Demographic information, smoking, alcohol consumption and cognitive function of the elderly at ages of 60 years and older were collected from the China Health and Retirement Longitudinal Study 2020. Social isolation and frailty were evaluated using social isolation index and frailty index, respectively. The mediating effect of frailty on social isolation and cognitive function was analyzed using the Process program, and the significance of the mediating role was tested using the Bootstrap test. Results: A total of 2 822 individuals were enrolled, including 1 483 males (52.55%) and 1 339 females (47.45%). There were 2 497 (88.48%) and 325 (11.52%) individuals at ages of 60-<75 years and ≥75 years, respectively. The median cognitive function score was 14 (interquartile range, 16) points. There were 432 cases with social isolation (15.31%), with a median social isolation index of 10 (interquartile range, 5) points. The median frailty index was 0.11 (interquartile range, 0.15). There were 1 111 individuals without frailty, accounting for 39.37%; 1 214 individuals with pre-frailty, accounting for 43.02%; and 497 individuals with frailty, accounting for 17.61%. Mediating effect analysis showed that social isolation affected cognitive function directly and negatively with the effect value of -0.773 (95%CI: -0.899 to -0.647), and also affected cognitive function by frailty indirectly and negatively with the effect value of -0.147 (95%CI: -0.188 to -0.110), with the mediating effect contributed 15.98% of the total effect. Conclusion Frailty can directly or indirectly affect cognitive function among elderly through social isolation.

Given that ovarian stimulation is vital for assisted reproductive technology (ART) and results in elevated serum estrogen levels, exploring the impact of elevated estrogen exposure on oocytes and embryos is necessary. We investigated the effects of various ovarian stimulation treatments on oocyte and embryo morphology and gene expression using a mouse model and estrogen-treated mouse embryonic stem cells (mESCs). Female C57BL/6J mice were subjected to two types of conventional ovarian stimulation and ovarian hyperstimulation; mice treated with only normal saline served as controls. Hyperstimulation resulted in high serum estrogen levels, enlarged ovaries, an increased number of aberrant oocytes, and decreased embryo formation. The messenger RNA (mRNA)‍-sequencing of oocytes revealed the dysregulated expression of lysine-specific demethylase 6b (Kdm6b), which may be a key factor indicating hyperstimulation-induced aberrant oocytes and embryos. In vitro, Kdm6b expression was downregulated in mESCs treated with high-dose estrogen; treatment with an estrogen receptor antagonist could reverse this downregulated expression level. Furthermore, treatment with high-dose estrogen resulted in the upregulated expression of histone H3 lysine 27 trimethylation (H3K27me3) and phosphorylated H2A histone family member X (γ-H2AX). Notably, knockdown of Kdm6b and high estrogen levels hindered the formation of embryoid bodies, with a concomitant increase in the expression of H3K27me3 and γ-H2AX. Collectively, our findings revealed that hyperstimulation-induced high-dose estrogen could impair the demethylation of H3K27me3 by reducing Kdm6b expression. Accordingly, Kdm6b could be a promising marker for clinically predicting ART outcomes in patients with ovarian hyperstimulation syndrome.
Female ; Mice ; Demethylation/drug effects* ; Embryonic Stem Cells ; Estrogens/administration & dosage* ; Gene Expression/drug effects* ; Histones/metabolism* ; Jumonji Domain-Containing Histone Demethylases/metabolism* ; Mice, Inbred C57BL ; Oocytes ; Ovary/drug effects* ; Reproductive Techniques, Assisted ; Animals

Objective:To understand the regional prevalence and hotspot mutations through analysis of genetic screening results for newborns with pseudohypertrophic muscular dystrophy.Methods:A total of 22 813 newborns (12 065 males and 10 748 females) born at the Women's Hospital of Nanjing Medical University from March 18, 2022, to October 31, 2023, were selected. The Dystrophin gene ( DMD) was detected using chip capture next-generation sequencing technology, followed by bioinformatics analysis. Pathogenic mutations identified were validated using multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing. Serum creatine kinase levels were also tested in suspected male patients. Descriptive analysis was applied for this study. Results:Among the 10 748 girls, 14 carriers of DMD gene were detected (0.013%), of which, nine cases were validated in the family; one case was a de novo mutation, five were inherited from the mother, and three were inherited from the father. The screening identified nine suspected patients among the boys (0.075%), and eight of them were confirmed by family validation, in which three were de novo mutations, and five were inherited from the mother. Among all identified DMD mutations, deletions were the most common one, accounting for 52.2% (12/23), incluling four cases of deletion at 49-51 exon. Conclusions:Newborn genetic screening based on chip capture next-generation sequencing technology combined with bioinformatics analysis is helpful in early detection of patients and carriers of pseudohypertrophy muscular dystrophy. According to the preliminary statistics, the incidence rate of DMD/BMD in this area is 1/1 341 male infants and the hotspot mutation is exon 49 to 51 deletion.

[Objective]Based on the theory of"Latent Wind-Xuanfu Opened-Kidney Collateral Stasis",to explore the treatment of renal proteinuria by Ziteng Gushen Prescription.[Methods]By consulting ancient and modern literatures,the formation mechanism of renal proteinuria was explained by the theory of"Latent Wind-Xuanfu Opened-Kidney Collateral Stasis",and it put forward the idea of"Expelling Wind,Closing the Xuanfu and Dredging the Collaterals"to treat renal proteinuria.Ziteng Gushen Prescription was established based on clinical experience,and its treatment characteristics and prescription characteris-tics were explained.Finally,a medical case was cited to prove it.[Results]According to the theory of"Latent Wind-Xuanfu Opened-Kidney Collateral Stasis","Latent Wind"is considered as the key cause of proteinuria,"Xuanfu is Opened by Wind"is the basic pathogenesis of renal proteinuria,and"Kidney Collateral Stasis"is both a pathological product and a pathogenic factor to promote the disease.The kidney-Xuanfu opens because of the latent wind,and the latent wind in the kid-ney causes the kidney collateral stasis,and the wind and blood stasis are mutually harmful.Therefore,the treatment of renal proteinuria should be based on expelling wind and closing the Xuanfu for the foundation,dredging the collaterals fot the supplement arity,and the three methods of"Expelling Wind,Closing the Xuanfu and Dredging the Collaterals"should be taken together.Ziteng Gushen Prescription is composed of Semen Cuscutae,Tian Mu Seed(Cornus officinalis),Fructus Ligustri Lucidi,Caulis Lonicerae,Caulis Spatholobi and Caulis Piperis.It adheres to the therapeutic characteristics of"seed medicine which is good at filling essence and closing Xuanfu"and"rattan medicine is good at treating collateral diseases",and has the functions of combining pungency and acid,opening and closing together,supplementing Yin and Yang,supplementing and converging together,strengthening the body resistance and eliminating evil,and combining cold and warm.At the end of the article,the medical records of IgA nephropathy were differentially classified as latent wind in kidney collaterals,Xuanfu being opened,weak Zhengqi and collateral obstruction.The treatment was to expel wind,close the Xuanfu,supplement Qi,dredge the collaterals,and got remarkable curative effect.[Conclusion]The theory of"Latent Wind-Xuanfu Opened-Kidney Col-lateral Stasis"and the method of"Expelling Wind,Closing the Xuanfu and Dredging the Collaterals"provide a new idea for the clinical treatment of renal proteinuria.Ziteng Gushen Prescription is rigorous,which has considerable curative effect on the treatment of renal proteinuria,and can provide more choices for the prevention and treatment of renal proteinuria by tradi-tional Chinese medicine to optimize the clinical efficacy.

Objective:To establish the cut-off value of tetradecenoyl carnitine (C14∶1)/dodecenoyl carnitine(C12∶1) based on non-derivatized tandem mass spectrometry (MS/MS), and to explore the application value of C14∶1/C12∶1 to screen newborns for very long chain acyl-CoA dehydrogenase deficiency (VLCADD), determining the best combination of indicators for screening VLCADD.Methods:This retrospective study included data from 17 newborns with VLCADD detected by MS/MS and confirmed by acyl-CoA dehydrogenase very long chain ( ACADVL) gene detection, and 423 507 newborns with normal MS/MS results. The data from these newborns were collected from January 2014 to December 2021 as the newborns received neonatal screening in Nanjing Neonatal Disease Screening Center and Suzhou Neonatal Disease Screening Center. All newborns were divided into 3 groups: all newborns group, full-term newborns group and normal-birth-weight newborns group, and the cut-off values of C14∶1/C12∶1 for VLCADD in these 3 groups were determined by their receiver operating characteristic (ROC) curves individually. With these results, a total of 5 interpretation schemes were composed using different indicators alone or jointly: scheme 1 being C14∶1/C12∶1, scheme 2 being C14∶1, scheme 3 being C14∶1+C14∶1/C2+C14∶1/C16, scheme 4 being C14∶1/C12∶1+C14∶1, and scheme 5 being C14∶1/C12∶1+C14∶1+C14∶1/C2+C14∶1/C16. The detection rate, false-positive rate and positive predictive value of each scheme were calculated, and their screening efficiencies were statistically compared by Chi-square tests. Results:The cut-off values of C14∶1/C12∶1 for VLCADD in the 3 newborn groups were all 2.80. The detection rates of VLCADD with all 5 interpretation schemes were 17/17. Scheme 1 had the highest false positive rate [26.15‰ (11 075/423 524)] and the lowest positive predictive value [0.15% (17/11 092)]. Scheme 4 (Scheme 5) had the lowest false positive rate [0.02‰ (10/423 524)] and the highest positive predictive value [62.96% (17/27)]. Comparing scheme 4 (Scheme 5) with scheme 1, scheme 2 and scheme 3, the differences of false positive rate (χ2=302.30,11 191.50,32.06) and positive predictive value (χ2=102.51,3 485.61,13.83) were statistically significant (all P<0.001). Conclusion:C14∶1/C12∶1 was an effective auxiliary interpretive indicator for VLCADD in newborn screening, and the combination of C14∶1/C12∶1+C14∶1 was tested to be the best indicator for VLCADD screening based on non-derivatized tandem mass spectrometry.

OBJECTIVE: To investigate the relationship between the vertical distance from semitendinosus insertion to tibial plateau (S-T) and the physical characteristics of patients, in order to provide reference for incision design to expose the semitendinosus insertion. METHODS: The patients with ligament injury who underwent primary anterior cruciate ligament reconstruction between January 2022 and December 2022 were selected as the research subjects. The patients' baseline data were collected, including age, gender, height, and body mass. During reconstruction operation, the S-T was measured. Considering the S-T as the dependent variable and baseline data as the independent variable, multiple linear regression analysis was used to establish a regression equation to determine the possible influencing factors of semitendinosus insertion location. RESULTS: According to the selection standard, a total of 214 patients were enrolled, including 156 males and 58 females, aged (27±9) years (14-49 years), with a height of (174.7±6.8) cm (range, 160-196 cm) and a body mass of (73.43±12.35) kg (range, 53-105 kg). The S-T was (56.36±3.61) mm (range, 47-67 mm). The multiple linear regression analysis results showed that the height was positively correlated with S-T (β=0.407, SE=0.055, t=7.543, P<0.001); the regression equation was S-T=-14.701+0.407×height, R²=0.690. CONCLUSION There was a linear relationship between the height and semitendinosus insertion. The location of semitendinosus insertion estimated by the formula (S-T=-14.701+0.407×height) is reasonable, which provides a theoretical basis for rapid, accurate, and safe location of semitendinosus insertion and design of surgical incision in clinic.
Female ; Male ; Humans ; Correlation of Data ; Hamstring Muscles ; Plastic Surgery Procedures ; Anterior Cruciate Ligament Reconstruction ; Physical Examination

Detection and identification standard of hookworm—Hookworm larvae coproculture techniques (WS/T 791—2021) is the first recommended technical standard for hookworm detection and species identification using the hookworm larvae coproculture technique in China. This standard was issued on November 23, 2021, and had been in effect since May 1, 2022. This article provides a detailed interpretation pertaining to the background, drafting process, main contents, and dos and don’ts for better understanding and application of this standard among professionals working in disease control and prevention institutions and medical institutions.

OBJECTIVE: To investigate the feasibility and effectiveness of "tail compression fixation+suture bridge" technology under shoulder arthroscopy for treating primary tear in medial enthesis of rotator cuff. METHODS: The clinical data of 11 patients with primary tear in medial enthesis of rotator cuff who met the selection criteria between October 2020 and October 2022 were retrospectively analyzed, including 3 males and 8 females, aged 39-79 years, with an average of 61.0 years. Rotator cuff injury was caused by traumatic fall in 8 cases, and the time from injury to admission was 1-4 months, with an average of 2.0 months; the remaining 3 cases had no obvious inducement. The active range of motion of the affected shoulder was limited, with an active forward flexion range of motion of (64.1±10.9)°, abduction of (78.1±6.4)°, internal rotation of (48.2±6.6)°, and external rotation of (41.8±10.5)°; 5 cases had shoulder stiffness. The preoperative visual analogue scale (VAS) score was 7.8±0.8 and the American Society of Shoulder and Elbow Surgeons (ASES) score was 23.9±6.4. The patients were treated with "tail compression fixation+suture bridge" technology under shoulder arthroscopy, and the pain and functional recovery were evaluated by VAS score, ASES score, and active range of motion of shoulder joint at last follow-up; MRI was performed after operation, and the integrity of rotator cuff was evaluated by Sugaya classification system. RESULTS: All the 11 patients were followed up 2-22 months, with an average of 13.5 months. All incisions healed by first intention, and there was no complication such as infection, rotator cuff re-tear, and anchor falling off. At last follow-up, the VAS score was 0.8±0.7 and the ASES score was 93.5±4.2, which significantly improved when compared with those before operation ( P<0.05). All 11 patients had no significant swelling in the shoulders, and the active range of motion was (165.1±8.8)° in flexion, (75.3±8.4)° in abduction, (56.6±5.5)° in internal rotation, and (51.8±4.0)° in external rotation, which significantly improved when compared with those before operation ( P<0.05). Shoulder MRI showed adequate tendon thickness and good continuity in 9 cases, including 4 cases with partial high signal area; and 2 cases with inadequate tendon thickness but high continuity and partial high signal area. According to Sugaya classification system, there were 4 cases of type 1 (36.4%), 5 cases of type 2 (45.5%), and 2 cases of type 3 (18.1%). CONCLUSION For the patients with primary tear in medial enthesis of rotator cuff, the "tail compression fixation+suture bridge" technology under shoulder arthroscopy is simple and effective.
Male ; Female ; Humans ; Rotator Cuff/surgery* ; Shoulder ; Arthroscopy ; Retrospective Studies ; Treatment Outcome ; Rotator Cuff Injuries/surgery* ; Rupture ; Shoulder Joint/surgery* ; Sutures ; Range of Motion, Articular

OBJECTIVE: To analyze the clinical features and genetic variants in four neonates with very long chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency. METHODS: Neonates with a tetradecenoylcarnitine (C14:1) concentration at above 0.4 μmol/L in newborn screening were recalled for re-testing. Four neonates were diagnosed with VLCAD deficiency by MS-MS and genetic testing, and their clinical features and genotypes were analyzed. RESULTS: All cases had elevated blood C14:1, and the values of first recalls were all lower than the initial test. In 2 cases, the C14:1 had dropped to the normal range. 1 case has remained at above 1 μmol/L after the reduction, and the remainder one case was slightly decreased. In total eight variants of the ADACVL genes were detected among the four neonates, which included 5 missense variants and 3 novel variants (p.Met344Val, p.Ala416Val, c.1077+6T>A). No neonate showed salient clinical manifestations. CONCLUSION Above findings have enriched the spectrum of ADACVL gene mutations and provided a valuable reference for the screening and diagnosis of VLCAD deficiency.
Acyl-CoA Dehydrogenase/genetics* ; Acyl-CoA Dehydrogenase, Long-Chain ; Congenital Bone Marrow Failure Syndromes ; Genetic Testing ; Humans ; Infant, Newborn ; Lipid Metabolism, Inborn Errors ; Mitochondrial Diseases ; Muscular Diseases ; Tandem Mass Spectrometry

Objective:To analyze the efficacy and safety of CLAG regimen (cladribine, cytarabine, granulocyte colony-stimulating factor) in treatment of relapsed/refractory acute myeloid leukemia (AML).Methods:The clinical data of 30 patients with relapsed/refractory AML who were admitted to Suzhou Hongci Blood Disease Hospital from January 2018 to February 2021 were retrospectively analyzed, and the efficacy and adverse reactions were observed.Results:Among 30 patients, 1 patient was not evaluated for efficacy due to treatment-related death. Among the 29 evaluable patients, 17 patients (58.6%) achieved complete remission (CR), 5 patients (17.3%) achieved partial remission (PR) and 7 patients (24.1%) had no remission (NR). One patient in low-medium-risk group achieved CR; the CR rate in medium-risk group was higher than that in high-risk group [68.8% (11/16) vs. 41.7% (5/12)], but the difference was not statistically significant ( P = 0.250). Seven patients with M 5 achieved CR. Five patients with positive MLL gene rearrangement achieved CR. Among 6 patients with extramedullary invasion of leukemia cells, 4 patients achieved CR, and among them 3 patients with central nervous system invasion achieved CR. Among 6 patients with cladribine 3.5 mg·m -2·d -1×5 d, 1 patient died of infection after chemotherapy, 1 patient had NR, and the rest achieved CR. Among 24 patients with cladribine 5 mg·m -2·d -1×5 d, the CR rate in patients with cytarabine 2 g·m -2·d -1×5 d was higher than that in patients with cytarabine 1 g·m -2·d -1×5 d [70.0% (7/10) vs. 42.9% (6/14)], but the difference was not statistically significant ( P = 0.240). All patients developed grade Ⅳ myelosuppression after chemotherapy. 12 patients underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT) after CR, and 9 patients were still alive. Conclusions:CLAG regimen is effective and well tolerated in the treatment of relapsed/refractory AML. In order to improve the prognosis, allo-HSCT should be performed as soon as possible after CR.