Objective The leptin receptor,encoded by the LEPR gene,is involved in tumorigenesis.A potential functional variant of LEPR,rs1137101(Gln223Arg),has been extensively investigated for its contribution to the risk of digestive system(DS)cancers,but results remain conflicting rather than conclusive.Here,we performed a case-control study and subsequent meta-analysis to examine the association between rs1137101 and DS cancer risk. Methods A total of 1,727 patients with cancer(gastric/liver/colorectal:460/480/787)and 800 healthy controls were recruited.Genotyping of rs1137101 was conducted using a polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)assay and confirmed using Sanger sequencing.Twenty-four eligible studies were included in the meta-analysis. Results After Bonferroni correction,the case-control study revealed that rs1137101 was significantly associated with the risk of liver cancer in the Hubei Chinese population.The meta-analysis suggested that rs1137101 is significantly associated with the risk of overall DS,gastric,and liver cancer in the Chinese population. Conclusion The LEPR rs1137101 variant may be a genetic biomarker for susceptibility to DS cancers(especially liver and gastric cancer)in the Chinese population.

Objective To investigate the prevalence and molecular characteristics of Anaplasma infections in sheep and goats in Anhui Province in 2020, so as to provide insights into ovine anaplasmosis prevention and control. Methods A total of 355 fresh blood samples were collected from 7 sheep and goat farms in Linquan County of Fuyang City, Lixin County of Bozhou City, Yu'an District of Lu'an City, Wangjiang County of Anqing City, Nanling County of Wuhu City, and Tianchang City and Fengyang County of Chuzhou City in Anhui Province from June to December 2020. A. bovis and A. phagocytophilum 16S ribosomal RNA (16S rRNA) gene, A. ovis major surface protein 4 (MSP4) gene and A. capra citric acid synthase (gltA) gene were amplified using PCR assay in all blood samples, and the prevalence of A. bovis, A. phagocytophilum, A. ovis and A. capra infections was calculated in sheep and goats. In addition, the positive amplification products were sequenced and subjected to genetic evolutionary analysis. Results The overall prevalence of Anaplasma infections was 17.5% (62/355) in sheep and goats in Anhui Province, and the prevalence of A. bovis, A. phagocytophilum, A. ovis and A. capra infections was 2.8% (10/355), 2.5% (9/355), 2.5% (9/355), and 7.0% (25/355), while the prevalence of A. bovis and A. phagocytophilum, A. phagocytophilum and A. ovis, A. phagocytophilum and A. capra and A. bovis, A. phagocytophilum and A. ovis co-infections was 0.8% (3/355), 1.1% (4/355), 0.3% (1/355) and 0.3% (1/355), respectively. No Anaplasma was detected in the sheep and goat farms in Fengyang County, while at least three Anaplasma species were detected in other sheep and goat farms, with co-infections of multiple Anaplasma species identified. The prevalence of Anaplasma infections was 14.7% (24/163) in goats and 19.8% (38/192) in sheep, and the prevalence of Anaplasma infections was 31.0% (31/100) in goats and sheep under 6 months of age, and 12.2% (31/255) in goats and sheep at ages of 6 months and older, respectively. A. bovis, A. phagocytophilum, A. ovis and A. capra were identified in sheep and goats of different breeds and ages. Conclusions Multiple Anaplasma species infections were commonly prevalent in goats and sheep in Anhui Province in 2020, notably A. phagocytophilum, A. ovis and A. capra, which have zoonotic risks. Improved surveillance and prevention and control of Anaplasma infections are required in sheep and goats in Anhui Province.

Objective:To explore the value of whole exome sequencing for the inferential analysis of recessive genetic disease carrier status for couples with a child died of Primary immunodeficiency (PID).Methods:Clinical data was collected from four couples with a childbearing history of PID who had sought genetic counseling and undergone genetic testing at Henan Provincial People′s Hospital from February 2017 to December 2021. Whole exome sequencing (WES) was performed on both partners of each couple, and candidate variants were validated by Sanger sequencing and fluorescent quantitative PCR. Prenatal diagnosis was conducted on fetuses of these couples after confirming the variants.Results:A total of six variants were detected in four genes including IL2RG, BTK, CYBB, and DUOX2. Among these, the c.1265G>A and c.3329G>A variants of the DUOX2 gene and the c. 676C>T variant of the IL2RG gene were previously known as pathogenic variants. On the other hand, the Exon5_8del variant of the IL2RG gene, the c. 184_185delAC variant of the BTK gene, and the c. 472A>T variant of the CYBB gene were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics, the IL2RG: Exon5_8del, BTK: c. 184_185delAC and CYBB: c. 472A>T variants were classified as likely pathogenic (PVS1+ PM2_Supporting+ PP4).Prenatal diagnosis was conducted for three couples during their subsequent pregnancies, and the results revealed that the fetuses had the wild-type genotypes at the c. 184_185 position of the BTK gene, the c. 472 position of the CYBB gene, and the c. 676 position of the IL2RG gene. Follow-up examinations one year after birth has found no abnormality in the infants. Conclusion:WES is an important tool to infer and analyze the carryier status for couples who had given births to children died of PID and improve the positive detection rate.

Objective:To apply the best evidence for nutritional management in patients with chronic heart failure (CHF) into clinical practice and evaluate its effectiveness.Methods:Totally 80 CHF patients admitted to the Department of Cardiology at the Affiliated Hospital of Chengde Medical University from October 2022 to March 2023 and 23 nurses involved in the project were selected by convenience sampling. The 40 CHF patients admitted from October to December 2022 formed the baseline group, while those admitted from January to March 2023 constituted the evidence application group. Evidence-based nursing methods were implemented in four stages: evidence retrieval, current status review, evidence implementation, and effectiveness evaluation. The compliance rates of review indicators, nurses' knowledge of nutritional management for CHF patients, and patient outcomes related to nutrition status and readmission rates were compared before and after evidence-based practice.Results:After evidence-based practice, the compliance rates of review indicators increased from 0-60.87% to 80.00%-100.00%. Nurses' scores on nutritional management knowledge for CHF patients increased significantly from (48.48±13.09) to (91.30±4.82), with a statistically significant difference ( P<0.05). The NRS 2002 scores of CHF patients decreased from (3.05±0.50) to (2.10±0.44), MNA-HF scores increased from (18.20±2.64) to (21.24±2.94), and albumin levels increased from (37.33±4.98) g/L to (39.24±3.29) g/L, all with statistically significant differences ( P<0.05). The 3-month readmission rate for CHF patients in the evidence application group was 10.00% (4/40), significantly lower than the 27.50% (11/40) in the baseline group ( P<0.05) . Conclusions:Evidence-based nursing practice for nutritional management in CHF patients can enhance nurses' knowledge, improve patients' nutritional status, reduce readmission rates, and improve the quality of nursing care.

Objective To analyze coating properties of porous artificial joints,including coating morphology and coating mechanical properties,and summarize the range of coating properties of current mainstream products,to provide references for the design and development of new products,as well as provide the basis for the long-term implant removal analysis.Methods Samples for the surface morphology,shear strength,and tensile strength of the coatings used in the experiment were prepared in accordance with ASTM F1854,ASTM F1044,and ASTM F1 147 standards,respectively.The coatings were processed using plasma spraying.The surface morphology(coating thickness,porosity,and pore intercept)of the coatings for all 17 products(Nos.1-17)was tested;for products Nos.1-7 and Nos.15-16,the shear strength test between the coating and substrate was conducted first in accordance with the test method of ASTM F1044.Then,according to the test method of ASTM F1 147,the tensile strength test between the coating and substrate was conducted.For product No.17,the shear and tensile strengths of the composite coating and simple titanium coating were tested,respectively,according to the test method of ASTM F1044 and ASTM F1 147.Results A total of 15 products(88.2％)had coating thicknesses between 300 μm and 500 μm.There were 16 metal-coated products(Nos.1-16),of which 11(68.75％of the total)had coating porosities between 30％and 50％,and 14(87.5％of the total)had coating pore intercepts between 50 μm and 150 μm.The mechanical properties of the coatings were independent of the substrate material used.The shear and tensile strengths of the composite coatings with hydroxyaptite(HA)were significantly lower than those of the pure metal coatings.Conclusions For the design and manufacture of artificial joints with porous coatings,the performance of the coating can be referred to the following indexes:the coating thickness is 300-500 μm,the coating porosity is 30％-50％,the coating pore intercept is 50-150 μm.The substrate materials can be selected based on the use of the product.The effects of a lower bonding force on product performance should be considered when designing prostheses with composite coatings containing HA.This range of performance metrics provides control for long-term clinical extraction analyses.

Objective To evaluate the application and effect of signature verification technology in children's vaccination clinics (CVC) of Jiangsu Province in 2020. Methods The signature verification data were derived from the Jiangsu Provincial Vaccination Integrated Service Management Information System, and the inquiry and registration, informed consent, vaccine traceability code scanning and observation information of children's vaccination clinics in different regions were analyzed. 210 doses of vaccination information were randomly selected from CVCs in each county, and the length of vaccination services in different regions was compared. Results During 2020, all of CVCs in Jiangsu were equipped with signature verification technology, and the signature verification rate of each vaccination sector was more than 99.90%. The length of outpatient vaccination service and overall length of stay in southern Jiangsu were slightly shorter than those in other regions. Conclusion The introduction of electronic signature verification technology in CVCs can effectively standardize the vaccination. It is necessary to expand the functions of electronic signature verification equipment, strengthen data analysis and utilization, and guide vaccination scientifically.

OBJECTIVE: To explore the genetic characteristics of a fetus with a high risk by maternal serum screening during the second trimester. METHODS: Genetic counseling was provided to the pregnant woman on March 22, 2020 at Henan Provincial People's Hospital. G-banded chromosomal karyotyping and array comparative genomic hybridization (aCGH) were carried out on the amniotic fluid sample and peripheral blood samples from the couple. RESULTS: The fetus and the pregnant woman were respectively found to have a 46,XX,der(6)t(6;14)(q27;q31.2) and 46,XX,t(6;14)(q27;q31.2) karyotype, whilst the husband was found to have a normal karyotype. aCGH analysis has identified a 6.64 Mb deletion at 6q26q27 and a 19.98 Mb duplication at 14q31.3q32.33 in the fetus, both of which were predicted to be pathogenic copy number variations. No copy number variation was found in the couple. CONCLUSION The unbalanced chromosome abnormalities in the fetus have probably derived from the balanced translocation carried by the pregnant woman. aCGH can help to determine the types of fetal chromosome abnormalities and site of chromosomal breakage, which may facilitate the prediction of fetal outcome and choice for subsequent pregnancies.
Pregnancy ; Female ; Humans ; Comparative Genomic Hybridization ; DNA Copy Number Variations ; Translocation, Genetic ; Chromosome Aberrations ; Fetus ; Prenatal Diagnosis

ObjectiveTo explore the underlying mechanism of Tripterygium wilfordii polyglycoside tablets （TWPT） in the prevention and treatment of kidney injury in diabetic nephropathy （DN） through the nuclear factor of activated T-cells 2（NFAT2）/cyclooxygenase-2（COX-2） pathway. MethodForty-two male SD rats of SPF grade were selected and randomly divided into a normal group （n=8） and an experimental group （n=34） after one week of adaptive feeding. The rats in the normal group were fed conventionally. The DN model was established in rats of the experimental group by intraperitoneal injection of streptozotocin （STZ） following one week of feeding on a high-fat and high-glucose diet. After the death and failure cases during modeling were eliminated， the remaining 24 model rats were randomly divided into model group， valsartan （8.33 mg·kg^-1·d^-1） group， and TWPT （5 mg·kg^-1·d^-1） group. Rats in normal group and model group were given equal amounts of normal saline by gavage. After six weeks， body weight was measured and urine samples were collected. Blood samples were collected from the abdominal aorta， and then the rats were sacrificed for sampling. Biochemical indicators， such as serum blood urea nitrogen （BUN）， serum creatinine （SCr）， alanine aminotransferase （ALT）， blood lipid， blood glucose， and 24-hour urine total protein （24 h UTP）， were determined. Hematoxylin-eosin （HE） staining and Masson staining were used to observe the pathology of the kidney. Enzyme-linked immunosorbent assay （ELISA） was used to detect NFAT2 and COX-2 expression levels in the serum. Western blot and Real-time fluorescence quantitative polymerase chain reaction（Real-time PCR）were adopted to detect NFAT2， COX-2 protein and mRNA expression in kidney tissues， respectively. ResultCompared with the normal group， the model group showed elevated 24 h UTP， BUN， SCr， CHO， TG， and FBG， increased serum NFAT2 and COX-2 production and expression （P<0.01）， and elevated protein and mRNA expression of NFAT2 and COX-2 in kidney tissues （P<0.01）. In addition， the pathology of the kidney showed enlarged glomeruli， mild proliferation of mesangial cells， and widened mesangial stroma. Compared with the model group， the TWPT group showed decreased 24 h UTP， BUN， SCr， CHO， TG， and FBG （P<0.05，P<0.01）， basically normal glomerular morphology， decreased expression of serum NFAT2 and COX-2 （P<0.01）， and down-regulated protein and mRNA expression of NFAT2 and COX-2 in kidney tissues （P<0.01）. ConclusionTWPT can alleviate 24 h UTP in DN model rats， protect renal function， and improve renal pathology， and its mechanism of action may be related to the down-regulation of NFAT2/COX-2 expression in the serum and kidney tissues.

Objective:To study the learning curve in laparoscopic left lateral hepatic sectionectomy.Methods:The clinical data of 62 consecutive patients who underwent left lateral hepatic sectionectomy by a single operator from February 2015 to May 2022 in General Hospital of Northern Theater Command were retrospectively analyzed. There were 22 males and 40 females, with mean ±s.d. of (50.7±11.7) years. The learning curve was depicted and evaluated by using the cumulative summation test. The general information, operation and postoperative indicators of the growth level group and the master level group were compared.Results:The average operation time of the 62 consecutive subjects was (172.9±70.1) minutes. Intraoperative blood loss was 100 (50, 200) ml. Two patients were converted to open hepatectomy. Clavien-Dindo grade I postoperative complications occurred in 20 patients (32.3%), with grade Ⅱ in 1 patient (1.6%) and grade Ⅲb in another patient (1.6%). The learning curve reached its highest point on the 20th patient by using the cumulative summation test. The study subjects were then assigned into the growth level group (patient 1-20) and the master level group (patient 21-62). The master level group had a significantly wider spread of patient age [(52.9±11.0) years vs (46.1±11.9) years], decreased operation time [(146.8±55.6) min vs (227.9±66.7) min], shortened drainage tube removal time [4(3, 5) d vs 6(4, 7) d] and decreased postoperative hospital stay [5(5, 7) d vs 6.5(4, 9) d] (all P<0.05) when compared with the growth level group. Conclusion:Left lateral hepatic sectionectomy was safe and feasible, and a single operator went through a learning curve of 20 patients before he/she could master the operation more proficiently.

ObjectiveTo explore the possible mechanism of Yiqi Yangyin Huoxue prescription in the prevention and treatment of kidney injury of diabetic kidney disease（DKD）rats based on NOD-like receptor protein 3（NLRP3）/cysteine protease-1（Caspase-1）/gasdermin D （GSDMD）pyroptosis pathway. MethodFifty male SD rats were randomly divided into normal group （n=8） and modeling group （n=42）. The modeling group was given a one-time intraperitoneal injection of streptozotocin （STZ） after high-sugar and high-fat diet for 6 weeks to induce the establishment of a DKD rat model. After successful modeling， the rats were randomly divided into model group， valsartan group （8.33 mg·kg^-1）， and Yiqi Yangyin Huoxue prescription low-dose and high-dose group （11，22 g·kg^-1）. After continuous gavage for 6 weeks， the fasting blood glucose （FBG）， total cholesterol （CHO）， triglyceride （TG）， blood urea nitrogen （BUN）， serum creatinine （SCr） and 24-hour urine protein quantification （24 h-UTP） were detected in each group of rats. Hematoxylin-eosin （HE） staining was used to observe the pathological changes of kidney tissue. Enzyme-linked immunosorbent assay （ELISA） was used to detect serum interleukin-1β （IL-1β） and interleukin-18 （IL-18） levels. The protein and mRNA expression levels of NLRP3/Caspase-1/GSDMD in kidney tissue of rats in each group were determined by Western blot and real-time quantitative polymerase chain reaction （Real-time PCR）. ResultCompared with the conditions in normal group， the levels of FBG， CHO， TG， BUN， SCr， 24 h-UTP and serum IL-1β and IL-18 as well as the protein and mRNA expression levels of NLRP3/Caspase-1/GSDMD in kidney tissue in model group were increased （P<0.01）， and the kidney tissue lesions were severe. Compared with the conditions in model group， the levels of FBG， CHO， TG， BUN， SCr， 24 h-UTP and serum IL-1β and IL-18 as well as the protein and mRNA expression levels of NLRP3/Caspase-1/GSDMD in kidney tissue in each intervention group were decreased （P<0.05， P<0.01）， and the degree of kidney tissue lesions was improved， with Yiqi Yangyin Huoxue prescription high-dose group showing the optimal effect. ConclusionYiqi Yangyin Huoxue prescription could inhibit pyroptosis by regulating the NLRP3/Caspase-1/GSDMD pathway， and thus relieve the inflammatory response of DKD rats and alleviate the pathological damage of the kidneys.