Objective:To explore the correlation between structural chromosomal abnormality and clinical characteristics of a child featuring gonadal dysplasia.Methods:A 13-year-old child who was admitted to Lianyungang Maternal and Child Health Care Hospital on February 7, 2023 for primary amenorrhoea and occasional abdominal pain was selected as the study subject. Clinical data of the child was collected, and peripheral blood samples of the child and her parents were collected. G-banding chromosomal karyotyping and copy number variation sequencing (CNV-seq) were carried out. "Pseudodual centromere isochromosome X" and "psu idic(X)" were used as keywords to search the CNKI, Wanfang and PubMed databases, and the search period was set as from January 1, 2002 to June 1, 2023. Relevant literature on the structural abnormality of X chromosome was searched and analyzed retrospectively.Results:The child has a height of 153 cm and weighed 45 kg. She has no obvious facial dysmorphism. Laboratory tests showed that she had higher FSH and luteinizing hormone, and lower E2. Ultrasonography showed that she had small ovaries and rudimentary uterus. She was found to have a karyotype of 46, X, psu idic(X)(q21.3)[40]/mos 45, X[3], whilst both of her parents had a normal karyotype. CNV-seq showed that she had a 63.27 Mb deletion in Xq21.32q28 and a 91.59 Mb duplication in Xp22.33q21.32 (mosaicism rate = 74%). A total of 11 relevant literature were retrieved. Clinical phenotypes of patients with similar structural chromosomal abnormalities were diverse, which was closely related to the mosaicism rate of the 45, X karyotype and the location of the breaking point.Conclusion:46, X, psu idic(X)(q21.3)/45, X probably underlay the dysplasia of uterus and ovary and sex hormone abnormalities in this child, while her height was spared. Deletion of Xq21.32q28 is a key factor leading to Turner syndrome-like phenotype such as rudimentary uterus and ovarian dysplasia.

Autoimmune hepatitis (AIH) is a severe globally distributed liver disease that could occur at any age. Human menstrual blood-derived stem cells (MenSCs) have shown therapeutic effect in acute lung injury and liver failure. However, their role in the curative effect of AIH remains unclear. Here, a classic AIH mouse model was constructed through intravenous injection with concanavalin A (Con A). MenSCs were intravenously injected while Con A injection in the treatment groups. The results showed that the mortality by Con A injection was significantly decreased by MenSCs treatment and liver function tests and histological analysis were also ameliorated. The results of phosphoproteomic analysis and RNA-seq revealed that MenSCs improved AIH, mainly by apoptosis and c-Jun N-terminal kinase/mitogen-activated protein signaling pathways. Apoptosis analysis demonstrated that the protein expression of cleaved caspase 3 was increased by Con A injection and reduced by MenSCs transplantation, consistent with the TUNEL staining results. An AML12 co-culture system and JNK inhibitor (SP600125) were used to verify the JNK/MAPK and apoptosis signaling pathways. These findings suggested that MenSCs could be a promising strategy for AIH.
Mice ; Animals ; Humans ; Hepatitis, Autoimmune/pathology* ; Signal Transduction ; Disease Models, Animal ; Stem Cells

Objective:To explore the surgical strategy of coronary artery bypass grafting(CABG) for moderate ischemic mitral regurgitation(IMR), and to clarify the impact of mitral valve surgical intervention(MVS) on the long-term prognosis of such patients.Methods:The clinical data of 234 consecutive patients with moderate IMR who received CABG from January 2013 to December 2018 were retrospectively included, with 184 males and 50 females. The age ranged from 29 to 78 years, with a mean of(61.5 ± 8.7) years old. According to whether MVS was performed at the same time, they were divided into CABG group(108 cases, CABG alone) and CABG+ MVS group(126 cases, CABG+ MVS at the same time). The long-term cardiac events, all-cause deaths, major cardiovascular and cerebrovascular adverse events(MACCE) and other end events were followed up. A matching queue was established by propensity matching score for statistical analysis.Results:After propensity matching score, a matching queue was established, including 78 pairs of patients. Survival analysis showed that the incidence of long-term cardiac events and postoperative new onset atrial fibrillation in CABG+ MVS group was significantly higher( P<0.05). However, there was no significant difference between the two groups in all-cause mortality, cardiogenic mortality, and the incidence of MACCE events( P>0.05). Cox regression analysis showed that simultaneous CABG+ MVS was a risk factor for long-term cardiac events and new postoperative atrial fibrillation. The results of subgroup studies showed that for patients without tricuspid regurgitation before operation, left ventricular end diastolic diameter>55 mm, and left ventricular ejection fraction(LVEF) ≤0.55, the probability of cardiac events after MVS at the same time of CABG was higher( P<0.05). However, patients with no tricuspid regurgitation before operation, left ventricular end diastolic diameter>55 mm, LVEF≤0.55, and left atrial diameter≥40 mm had a higher probability of atrial fibrillation after MVS at the same time of CABG( P<0.05). Conclusion:CABG can improve left ventricular remodeling in patients with moderate IMR, whether MVS intervention is performed at the same time or not, and the long-term survival rate of both is similar. CABG+ MVS in the same period can maintain a low residual reflux, but the incidence of long-term cardiac events and arrhythmias is high. The longer-term prognosis needs to be further studied. The surgical strategy of such patients should be selected individually according to the specific situation and the surgical quality in medical centers.

Background::The risk for chronic kidney disease (CKD) is influenced by genetic predisposition, sex, and lifestyle. Previous research indicates that coffee is a potentially protective factor in CKD. The current study aims to investigate whether sex disparity exists in the coffee–CKD association, and whether genetic risk of CKD or genetic polymorphisms of caffeine metabolism affect this association.Methods::A total of 359,906 participants from the UK Biobank who were enrolled between 2006 and 2010 were included in this prospective cohort study, which aimed to estimate the hazard ratios for coffee intake and incident CKD using a Cox proportional hazard model. Allele scores of CKD and caffeine metabolism were additionally adjusted for in a subsample with qualified genetic data ( n = 255,343). Analyses stratified by genetic predisposition, comorbidities, and sex hormones were performed. Tests based on Bayesian model averaging were conducted to ascertain the robustness of the results. Results::Coffee was inversely associated with CKD in a dose-dependent manner. The effects of coffee did not differ across different strata of genetic risk for CKD, but were more evident among slower genetically predicted caffeine metabolizers. Significant sex disparity was observed ( P value for interaction = 0.013), in that coffee drinking was only associated with the risk reduction of CKD in females. Subgroup analysis revealed that testosterone and sex hormone-binding globulin (SHBG), but not estradiol, modified the coffee–CKD association. Conclusions::In addition to the overall inverse coffee–CKD association that was observed in the general population, we could also establish that a sex disparity existed, in that females were more likely to experience the benefit of the association. Testosterone and SHBG may partly account for the sex disparity.

Objective     To evaluate the clinical and follow-up results of the surgical treatment for hypertrophic obstructive cardiomyopathy associated with aortic stenosis. Methods     We retrospectively analyzed the clinical data of the patients with hypertrophic obstructive cardiomyopathy plus aortic stenosis in our hospital from February 2008 to October 2015. There were 4 males and 3 females aged 55.6 ± 7.5 years. All the patients were received concomitant aortic valvulopasty at the time of modified extended Morrow procedure. Echocardiographic data and major complications were recorded through the outpatient clinic and telephone. Results     The postoperative ventricular septal thickness, left ventricular outflow tract gradient and aortic gradient were significantly lower than those in preoperation with statistical differences (P<0.05). During the mean follow-up 25.6 ± 28.2 months period, 1 patient died of cerebral hemorrhage, 1 patient was implanted a permanent pacemaker, and 1 patient had a postoperative new-onset atrial fibrillation. All patients had a satisfied prosthetic valve function and the left ventricular outflow tract gradient. The patient's symptoms and heart function significantly improved postoperatively. Conclusion     For patients with hypertrophic obstructive cardiomyopathy associated with moderate to severe aortic stenosis, concomitant aortic valvulopasty at the time of modified extended Morrow procedure is an appropriate and effective treatment, which can significantly alleviate the clinical symptoms, and improve quality of life with a satisfied prognosis.

Objective To explore the effects of information technology in experimental teaching of Fundamentals of Nursing. Methods From September 2016 to July 2017, we selected 163 nursing students of four classes in grade 2014 of nursing faculty in Nanjing Health School by cluster sampling as subjects. According to random number table, a total of 81 nursing students of two classes were set as control group, and 82 nursing students of other two classes were set as experimental group. Control group accepted traditional teaching method. On this basis, experimental group applied information technology teaching. We evaluated nursing students of two groups with the Evaluation Scale for Self-learning Ability of Nursing Specialty Students before and after intervention. We assessed nursing students of experimental group with the Information Technology Effect Evaluation Questionnaire. Results After intervention, the dimension score of learning motivation, self-management ability, information competency and the total score of the Evaluation Scale for Self-learning Ability of Nursing Specialty Students of nursing students in the experimental group were (31.85±4.85), (41.68±6.87), (22.09±4.87), (115.41±13.85) respectively higher than those (29.98±5.07), (39.77±5.82), (19.09±3.87), (107.68±12.57) of the control group with significant differences (t=2.553,2.537,2.837,3.485;P< 0.05). There were 81.7% of nursing students hope to be taught with the information technology teaching method. Conclusions Information technology can effectively improve nursing students' learning motivation, self-management ability and information competency. Besides, the application of information technology in traditional teaching is recognised by most nursing students.

Objective To explore the effectiveness of self-care intervention for elderly patients with diabetes mellitus in rural community. Methods We randomly selected 100 elderly patients with diabetes from January 2013 to December 2013 in rural community health service station in Yizhou, Guangxi Zhuang Autonomous Region. Individualized intervention of diabetes-related knowledge was delivered to patients. Fasting blood glucose and glycated hemoglobin were compared before and after the intervention. The effectiveness of intervention was investigated by diabetes self-care scale. Results Levels of fasting blood glucose [(5. 91 ± 0. 10)mmol/L] and glycated hemoglobin [(4. 62 ± 0. 14)%] from 100 patients were lower than those before the intervention after 1 year intervention (t=11. 840,12. 379;P<0. 01). After intervention, the total score of diabetes self-care scale was improved to (89. 66 ± 1. 56) from (75. 32 ± 1. 50) (t = -7. 597,P <0. 01). Conclusions Blood glucose can be effectively controlled by helping the rural elderly diabetic patients to learn about self-care.

Objective This study was designed to compare the safety and efficacy of fast track surgery (FTS) with conventional perioperative management in colonl cancer patients undergoing radical resection.Methods From May 2011 to May 2013,66 patients with colorectal cancer were randomly assigned to FTS group and control group.Outcomes were assessed by length of postoperative hospital stay,medical cost,nutritional status,gut function,and postoperative complication.Results FTS group was associated with a significantly shorter postoperative hospital stay,lessmedical cost,earlier first passage of flatus,less loss of body weight in the postoperative period compared with control group,and there were no differences in morbidity or mortality between two groups.Conclusion The radical resection under the guidence of fast track rehabilitation is safe and effective method.Significantly reduce patients' perioparative stess response and accelerate the recovery.

OBJECTIVETo evaluate the antioxidant effects of Taohong Siwu decoction and to exploit the bioactive constituents.

METHODThe samples were prepared by macroporous adsorptive resins (TH-1-TH-15). Three antioxidant models were adopted to evaluate the antioxidant activities of Taohong Siwu decoction and its different separated fractions in vitro. It was found that fractions (TH-2, TH-4, TH-7, TH-8, TH-9), separated from Taohong Siwu decoction, mainly contributed to the antioxidant effects. The chemical constituents in the most active fraction TH-8 were identified and determined by HPLC.

RESULTTH-8 showed significant antioxidant activities in the antioxidant experiments. Six compounds in the fraction were determined which were amygdalin, albiflorin, paeoniflorin, benzoic acid, coumaric acid and ferulic acid. The contents were 75.70, 31.26, 60.79, 1.196, 1.108, 4.861 mg L(-1), respectively.

CONCLUSIONGlycosides and aromatic acids may be the principle effective constituents in the active fraction.

Objective To assess if evaluating with Peabody's fine motor development scale with 4 degree grading is more sensitive than with 3 degree grading, and whether or not it is feasible to evaluate by quantization with monthly averages. Methods A total of 864 normal children aged 1 month to 60 months were evaluated with the Peabody scale using 4 degree grading and 3 degree grading. The development results were averaged by month to express the development. Results Both ways, the monthly averages of children 4-9 months old were higher than the others. The values obtained with 4 degree grading were lower than those with 3 degree grading in each functional area, and the difference was more obvious with increasing age, but the differences were not statistically significant. With 3 degree grading the total score was equal to the actual score after the age of 9 months, but with 4 degree grading this was not true until at least 18 months. Conclusions Evaluating with Peabody's fine motor scale with 4 degree grading and quantization using monthly averages is reliable and more sensitive than 3 degree grading.