OBJECTIVE: To block family transmission of a small fragment copy number variation (CNV) with combined 1 Mb resolution preimplantation genetic testing for aneuploidy (PGT-A) and target region preimplantation genetic testing for monogenic disease (PGT-M) strategies. METHODS: A couple who attended the Reproductive and Genetic Medicine Center of Dalian Women and Children's Medical Center (Group) in 2024 were selected as the study subject. Upon the woman's two pregnancies, ultrasound examination revealed fetal abnormalities, and CNV-seq based on low-depth whole genome sequencing revealed that both fetuses had carried a maternal 17p12 microduplication of approximately 1.43 Mb. Microduplication in this region has been associated with Charcot-Marie-Tooth disease type 1A. In view of the fact that the resolution of conventional PGT-A detection cannot meet the requirement of small fragment CNV analysis, and conventional PGT-M assay cannot directly determine the CNV, two detection schemes were adopted. On the one hand, PGT-A testing with 1 Mb resolution was performed on the embryo to directly determine whether it carries the above microduplication. At the same time, the couple and their fetus were subjected to chromosomal typing scheme for the 17p12 region to indirectly identify embryos carrying the risk chromosome for microduplication. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No: FEJT-KY-2025-51). RESULTS: Three embryos were tested after the first PGT cycle, of which 1 was not carrying the pathogenic variant and was euploid, whilst the other 2 embryos were carrying the 17p12 microduplication, and 1 of them was aneuploid. After genetic counseling, the euploid embryo without the 17p12 microduplication was selected for transfer, and prenatal diagnosis based on amniotic fluid sample showed that the fetal chromosomal karyotype was normal and did not carry the 17p12 microduplication. CONCLUSION The combined application of high-resolution PGT-A and PGT-M typing detection of the target region can effectively block family transmission of the CNVs of small fragments.
Humans ; Female ; DNA Copy Number Variations/genetics* ; Preimplantation Diagnosis/methods* ; Pregnancy ; Pedigree ; Genetic Testing/methods* ; Male ; Adult ; Aneuploidy ; Chromosomes, Human, Pair 17/genetics* ; China ; East Asian People

Objective To analyze the correlation between serum 25-hydroxyvitamin D[25(OH)D]and inflammatory cytokines such as interferon γ(IFN-γ),C-reactive protein(CRP)and interleukin-2(IL-2)in neonatal pneumonia.Methods A total of 100 neonates admitted to First Hospital of Qinhuangdao from December 2018 to December 2020 were enrolled in this study.According to the serum 25(OH)D level,they were divided into deficiency group(≤15.0 μg/L,n=18),inadequate group(15.1-20 μg/L,n=42),and adequate group(＞20.0 μg/L,n=40).The general and clinical data such as gender,gestational age,serum 25(OH)D level,birth weight,mode of delivery and the levels of IFN-γ,CRP and IL-2 were compared among the three groups.The correlation between vitamin D deficiency and levels of IFN-γ,CRP and IL-2 was analyzed.Results There were no significant differences in gestational age,sex,birth weight,or delivery mode among the three groups(P＞0.05).Serum 25(OH)D levels in the three groups were as follows:deficiency group＜inadequate group＜adequate group,and there were significant differences in the serum 25(OH)D level between groups(P＜0.05).The levels of IFN-γ,CRP and IL-2 in the deficiency group were higher than those in the inadequate group and adequate group(P＜0.05),and the levels of IFN-γ,CRP and IL-2 in the inadequate group were higher than those in the adequate group(P＜0.05).The Pearson correlation analysis showed that serum 25(OH)D level was negatively correlated with IFN-γ,CRP and IL-2 levels in newborns(P＜0.05).Conclusion The lower the serum 25(OH)D in newborns,the more deficient the vitamin D and the higher the levels of IFN-γ,CRP and IL-2 are,indicating higher risk of pneumonia.

【Objective】 To reduce the incidence of postoperative intestinal obstruction, we tried to improve surgical techniques by closing the cavity formed during radical cystectomy + ileal passage (Bricker) via laparoscopy to prevent the formation of abdominal hernia. 【Methods】 During Oct.2018 and Feb.2022, 41 patients were involved (conventional group). After standard laparoscopic radical cystectomy + pelvic lymphadenectomy, the ileum channel was established. The right medial retroperitoneum was sutured to cover the mesothelium and end of the ileum channel under open operation or endoscope. The space between the ureter and mesothelium of the ileum channel was sealed, and the end of the ileum channel and both ureters were externalized. During Feb.2022 and Dec.2022, 15 patients were involved (modified group). The right inner and outer lateral peritoneums below the ileal conduit were sutured to "bottom out" the gap between the ileal conduit and the right abdominal wall in addition to standard procedures. The recovery of intestinal function and incidence of bowel obstruction were compared between the two groups. 【Results】 In the conventional group, the intestinal function recovered within 2 to 6 days after surgery, with a median ventilation time of 3 days. Intestinal obstruction occurred in 3 patients, 2 of whom improved after conservative treatment while 1 underwent surgical exploration after ineffective conservative therapy. There were no significant differences in the time of discharge and ventilation between the two groups, but no intestinal obstruction occurred in the modified group. 【Conclusion】 Peritoneal externalization at the end of ileal passage can reduce the incidence of intra-abdominal hernia and postoperative intestinal obstruction, which is worthy of clinical application.

Objective : To explore the independent risk factors affecting the prognosis，and to construct a nomogram model predicting overall of patients with rectal cancer at T1 and T2 stage． Methods : Retrospective analysis was made on the data of 353 patients diagnosed as rectal cancer，who received the radical rectal resection．The collect- ed data were as follows : age，body mass index (BMI) ，carcinoembryonic antigen ( CEA) ，tumor size，histological type，T stage，N stage，tumor location and number of lymph nodes detected，which were used to perform Kaplan- Meier curve and Log-rank test for univariate analysis and Cox regression for multivariate analysis．The nomogram model was established to predict the overall survival of patients. Results : Age≥60 years，Mucinous adenocarcino- ma，poorly differentiation ，T2 stage ，lymph node metastasis ，BMI ≥25 kg / m2 ，CEA ≥5 μg / L and number of lymph nodes detected ＜12 were associated with overall survival of patients with rectal cancer at T1 and T2 stage (all P＜0. 05) ．Cox regression showed that age≥60 years，T2 stage，mucinous adenocarcinoma，lymph node me- tastasis，CEA≥5 μg / L，BMI ≥25 kg / m2 and lymph node detection number ＜12 were independent risk factors. Based on the above independent risk factors，the nomogram model was constructed，and the predicted curve was in good agreement with the actual survival curve ( C-index = 0. 779) ． Conclusion Age≥60 years，T2 stage，mucin- ous adenocarcinoma，lymph node metastasis，CEA≥5 μg / L，BMI≥25 kg / m2 and the number of lymph nodes de- tected ＜12 are independent risk factors ，and the nomogram established in this study can effectively predict the prognosis of patients with rectal cancer at T1 and T2 stage.

Sijunzi decoction (SJZD) is a Chinese classical formula to treat spleen qi deficiency syndrome (SQDS) and has been widely used for thousands of years. However, the quality control (QC) standards of SJZD are insufficient. Chinmedomics has been designed to discover and verify bioactive compounds of a variety of formula rapidly. In this study, we used Chinmedomics to evaluate the SJZD's efficacy against SQDS to discover the potential quality-markers (q-markers) for QC. A total of 56 compounds in SJZD were characterized in vitro, and 23 compounds were discovered in vivo. A total of 58 biomarkers were related to SQDS, and SJZD can adjust a large proportion of marker metabolites to normal level and then regulate the metabolic profile to the health status. A total of 10 constituents were absorbed as effective ingredients that were associated with overall efficacy. We preliminarily determined malonyl-ginsenoside Rb2 and ginsenoside Ro as the q-markers of ginseng; dehydrotumulosic acid and dihydroxy lanostene-triene-21-acid as the q-markers of poria; glycyrrhizic acid, isoglabrolide, and glycyrrhetnic acid as the q-markers of licorice; and 2-atractylenolide as the q-marker of macrocephala. According to the discovery of the SJZD q-markers, we can establish the quality standard that is related to efficacy.

OBJECTIVE: To observe the therapeutic effect of electro-acupuncture on tendon healing and functional recovery of rotator cuff injury in rats and explore the therapeutic mechanism of electro-acupuncture. METHODS: Ninety SD rats were randomly divided into electro-acupuncture group, model group and blank control group, and models of rotator cuff injury were established in the former two groups.The rats in electro-acupuncture group was treated with electro-acupuncture after the operation, and those in the other two groups received no treatment.The right forefoot thermal withdrawal latency (TWL), the contents of IL-1β, IL-6 and TNF-α in the synovial fluid and the maximum tension load of supraspinatus tendon were measured at 2, 4 and 8 weeks after the operation. RESULTS: TWL in the model group was significantly lower than that in the blank control group and electro-acupuncture group at 2, 4 and 8 weeks after the operation ( CONCLUSIONS Electro-acupuncture treatment not only effectively reduces the expression of inflammatory factors to relieve pain, but also promotes the repair of damaged tissue to improve the biomechanical properties of rotator cuff in the rat models.
Acupuncture Therapy ; Animals ; Biomechanical Phenomena ; Disease Models, Animal ; Rats ; Rats, Sprague-Dawley ; Rotator Cuff/surgery* ; Rotator Cuff Injuries/surgery* ; Wound Healing

Objective? To explore the effect of applying sensitive indicators of emergency nursing in quality control closed loop management system, and to promote the development of emergency nursing quality management towards refinement, standardization and homogenization. Methods? By reviewing the literatures of emergency nursing sensitive indicators and quality control evaluation indicators at home and abroad in recent five years, the closed-loop management scheme of emergency nursing quality sensitive indicators was constructed, and further improved through training and feedback control. The difference of sensitive indicators of emergency nursing quality before intervention (2017) and after intervention (2018) in the Fourth Hospital of Harbin Medical University were compared. Results? After applying the closed-loop management scheme of quality control for sensitive indicators of emergency nursing, the excellent rate of emergency department specialist training, hand hygiene compliance of nurses, accuracy rate of pre-examination and triage, qualified rate of average residence time of critical patients in green channel, accuracy rate of patient identification, patient satisfaction and coverage rate of health education increased, and the difference was statistically significant (P＜ 0.01). Conclusions? The application of closed-loop management scheme for sensitive indicators of emergency nursing quality has a positive guiding effect on the quality control of emergency nursing, and can provide objective and accurate quality evaluation criteria for emergency nursing managers.

OBJECTIVETo explore the risk factors of vascular invasion in patients with early gastric cancer (EGC), and to investigate the influence of vascular invasion on the prognosis of EGC patients.

METHODSFrom January 2014 to December 2015, 449 EGC patients underwent curative gastrectomy at the First Affiliated Hospital of Anhui Medical University, of whom 27 cases (6.0%) developed vascular invasion. Clinicopathological and follow-up data of EGC cases were analyzed retrospectively. The association between clinicopathological features and vascular invasion was analyzed by using the Chi-square test or Fisher exact test, and the independent risk factors influencing vascular invasion were identified with logistic regression. The influence of vascular invasion on overall survival was investigated with Kaplan-Meier curve. This study was approved by Ethics Committee of The First Affiliated Hospital of Anhui Medical University (No. 2018-03-12).

RESULTSOf 449 EGC patients, 325 were males and 124 were females (ratio 2.6:1.0) with the mean age of (60.8±10.5) (27 to 87) years; 228 were diagnosed as T1a stage and 221 were diagnosed as T1b. Univariate analysis showed that incidence of vascular invasion in EGC patients with ulceration or scar was 8.4%(18/225), which was higher than 3.8%(9/234) in those without ulceration, and the difference was statistically significant (χ²=4.061, P=0.044). The incidence of vascular invasion in patients with low differentiated tumor was 8.8% (20/226), which was significantly higher than 3.1%(7/223) in those with middle-high differentiated tumor(χ²= 8.363, P=0.012). The incidence of vascular invasion in patients staging T1b was 10.9% (24/221), which was significantly higher than 1.3% (3/228) in those staging T1a (P=0.000); The incidence of vascular invasion in patients with lymph node metastasis was 27.3% (15/55), which was significantly higher than 3.0%(12/394) in those without lymph node metastasis (χ²=50.122, P=0.000). However, there were no significant associations of vascular invasion with gender, age, surgical type, multiple tumor, tumor deposit, tumor location and tumor size (all P > 0.05). Multivariate analysis showed that T1b stage (RR=4.653, 95%CI:1.293-16.747, P=0.019) and lymph node metastasis(RR=7.302, 95%CI: 3.063-17.408, P=0.000) were independent risk factors for vascular invasion in EGC patients. Among 449 EGC patients, 444 received complete follow-up(98.9%), including 26 cases with vascular invasion and 418 cases without vascular invasion. The overall survival in vascular invasion group was significantly lower than that in non-vascular invasion group (χ²=60.463, P=0.000). Besides, 198 EGC patients gained follow-up for 3 years, and the 3-year survival rates of 11 vascular invasion cases and 187 non-vascular invasion cases were 54.5% and 96.8% respectively.

CONCLUSIONSThe risk of vascular invasion is higher in EGC patients with lymph node metastasis and tumor infiltrating the submucosa. The prognosis of EGC patients with vascular invasion is poor.

Adult ; Aged ; Aged, 80 and over ; Female ; Gastrectomy ; Humans ; Lymph Node Excision ; Male ; Middle Aged ; Neoplasm Invasiveness ; Neoplasm Staging ; Prognosis ; Retrospective Studies ; Risk Factors ; Stomach Neoplasms ; pathology ; surgery ; Vascular Neoplasms

Objective To assess the prognostic significance of prognostic nutritional index (PNI),neutrophil lymphocyte ratio (NLR) and platelet-lymphocyte ratio in gastric cancer patients.Methods Clinico-pathological data of 257 patients with gastric cancer in the First Affiliated Hospital of Anhui Medical University between January 2010 and January 2011 was analyzed retrospectively.The ROC curve and Youden index were used to determine the cut-off value,survival curves were described by KaplanMeier method and compared by Log-rank test.The univariate and multivariate analyses were performed with the Cox proportional hazard model to identify the prognostic factors.Results PNI was positively correlated with ages,tumor size,depth of tumor invasion,TNM stages,albumin,pre-albumin and hemoglobin (all P ＜ 0.05).NLR was associated with the tumor size,the depth of invasion,lymph node metastasis,TNM stages,albumin,pre-albumin and hemoglobin (all P ＜ 0.05).PLR was associated with the tumor size,prealbumin and hemoglobin (all P ＜ 0.05).The Kaplan-Meier curves showed that gastric cancer patients had longer overall time in the low NLR group,low PLR group and high PNI group than in the high NLR group,high PLR group and low PNI group respectively (all P ＜ 0.05).The multivariate analyses showed that PNI and NLR were independent factors for predicting overall survival of gastric cancer patients.Conclusions PNI and NLR have more predictive value of overall survival than the PLR,PNI and NLR are independent prognostic factors of OS (overall survival) in gastric cancer.

Objective To explore the independent risk factors of lymph-node metastasis (LNM) in patients with early gastric cancer (EGC),and establish a risk-prediction model based on LNM.Method 962 early gastric cancer patients undergoing curative radical gastrectomy in the First Hospital of Anhui Medical University from July 2011 to April 2016 were enrolled in this study.The relationships between different clinicopathologic characteristics and LNM were analyzed by Chi-square test or Fisher exact probability,and the independent risk factors were determined using Logistic regression analysis.Moreover,LNM risk was stratified and a risk-predicting model was established on the basis of the identified independent risk factors for LNM.Further,the risk-predicting model was validated using 962 EGC cases.The discriminatory accuracy of risk-predicting model was measured by area under ROC curve (ROC-AUC).Results Mucosal differentiated cancer ≤2 cm,irrespective of the existence of an ulcer,had low LNM rates (LNMR ＜ 3.0％).Univariate and multivariate analysis revealed that female EGC patients with submucosal,undifferentiated,vessel invasion and tumor size ＞ 2 cm were independent risk factors of LNM for EGC patients,and relative risks were 1.893,3.173,1.956,1.922 and 9.027 respectively (P ＜ 0.05).ROCAUC of risk-predicting model was 0.768 (P ＜ 0.01),which showed high diagnostic accuracy and sensitivity.Conclusion Female EGC patients with submucosal undifferentiated carcinomas measuring ＞ 2 cm with vessel invasion have higher risk of LNM.