Objective:To explore the cause of inconsistency between the results of trisomy 7 by expanded non-invasive prenatal testing (NIPT-PLUS) and trisomy 18 by prenatal diagnosis.Methods:A pregnant woman who received genetic counseling at Jiaozuo Maternal and Child Health Care Hospital on July 5, 2020 was selected as the study subject. NIPT-PLUS, systematic ultrasound and interventional prenatal testing were carried out. The middle segment and root of umbilical cord, center and edge of the maternal and fatal surface of the placenta were sampled for the validation by copy number variation sequencing (CNV-seq).Results:The result of NIPT-PLUS indicated that the fetus has trisomy 7. Systematic ultrasound has shown multiple malformations including atrioventricular septal defect, horseshoe kidney, and rocker-bottom feet. However, QF-PCR, chromosomal karyotyping analysis, and CNV-seq of amniotic fluid samples all showed that the fetus was trisomy 18. Validation using multiple placental samples confirmed that the middle segment of the umbilical cord contains trisomy 18, the center of the placenta contained trisomy 7, and other placental sites were mosaicism for trisomy 7 and trisomy 18. Notably, the ratio of trisomy 18 became lower further away from the umbilical cord.Conclusion:The false positive results of trisomy 7 and false negative trisomy 18 by NIPT-PLUS was probably due to the existence of placental mosaicism. Strict prenatal diagnosis is required needed aneuploidy is detected by NIPT-PLUS to exclude the influence of placental mosaicisms.

Background: Twenty-four-hour urinary free cortisol (UFC) measurement is the initial diagnostic test for Cushing’s syndrome (CS). We compared UFC determination by both direct and extraction immunoassays using Abbott Architect, Siemens Atellica Solution, and Beckman DxI800 with liquid chromatography-tandem mass spectrometry (LC-MS/MS). In addition, we evaluated the value of 24-hr UFC measured by six methods for diagnosing CS. Methods: Residual 24-hr urine samples of 94 CS and 246 non-CS patients were collected.A laboratory-developed LC-MS/MS method was used as reference. UFC was measured by direct assays (D) using Abbott, Siemens, and Beckman platforms and by extraction assays (E) using Siemens and Beckman platforms. Method was compared using Passing–Bablok regression and Bland–Altman plot analyses. Cut-off values for the six assays and corresponding sensitivities and specificities were calculated by ROC analysis. Results: Abbott-D, Beckman-E, Siemens-E, and Siemens-D showed strong correlations with LC-MS/MS (Spearman coefficient r = 0.965, 0.922, 0.922, and 0.897, respectively), while Beckman-D showed weaker correlation (r = 0.755). All immunoassays showed proportionally positive bias. The areas under the curve were 0.975 for Abbott-D, 0.972 for LCMS/MS, 0.966 for Siemens-E, 0.948 for Siemens-D, 0.955 for Beckman-E, and 0.877 for Beckman-D. The cut-off values varied significantly (154.8–1,321.5 nmol/24 hrs). Assay sensitivity and specificity ranged from 76.1% to 93.2% and from 93.0% to 97.1%, respectively. Conclusions Commercially available immunoassays for measuring UFC show different levels of analytical consistency compared to LC-MS/MS. Abbott-D, Siemens-E, and Beckman-E have high diagnostic accuracy for CS.

Objective To explore the chain mediating effects of perceived stress and depression between Type D personality and quality of life in patients with Crohn's disease.Methods A total of 270 patients who visited our hospital for Crohn's disease from September 2022 to July 2023 were enrolled in this study with convenience sampling method.Perceived stress scale(PSS),patient health questionnaire 9(PHQ-9),Type D personality scale(DS-14),22-item inflammatory bowel disease quality-of-life questionnaire(IBDQOL-22)and the Crohn's disease activity index(CDAI)were employed in the survey.Pearson correlation or Spearman correlation analysis was used to explore the correlation between Type D personality,perceived stress,depression and quality of life in patients with Crohn's disease.Structural equation modelling was conducted using MPLUS 8.0 software,and confidence intervals were calculated using Bootstrap method for chain mediation analysis.Results A total of 269 patients with Crohn's disease had completed the survey.Total scores for IBDQOL,PHQ-9 and PSS were(82.7±13.7),3.0(1.0-7.0)and(24.4±7.5),respectively and the scores for the dimensions of negative emotion and social inhibition of DS-14 were(10.3±5.9)and(11.6±5.5),respectively.A total of 117(43.5%)patients were identified with Type D personality among 269 patients with Crohn's disease.The structural equation model revealed that Type D personality did not directly or significantly affect the quality of life(effect value=0.034,95%CI:-0.130 to 0.206).However indirectly,perceived stress and depression significantly mediated the relationship between Type D personality and quality of life,with a total indirect effect size of-0.307(95%CI:-0.423 to-0.207),a chain mediation effect size of-0.048(95%CI:-0.079 to-0.016),accounting for 15.6%of the total indirect effect.Conclusions The quality of life in patients with Crohn's disease is moderate.Perceived stress and depression both play a significant role between Type D personality and quality of life of the patients.Attention should be paid to the patients with Type D personality,hence the quality of life of patients could be improved through the intervention of stress perception and depression.

Objective:To explore the effect of hierarchical diagnosis, treatment and nursing management based on mobile network information platform on the rehabilitation effect of patients with coronary heart disease.Methods:Using the convenient sampling method, a total of 150 patients with coronary heart disease who were admitted to Department of Cardiology of the First Affiliated Hospital of Harbin Medical University from March 2020 to March 2021 were selected as the research objects. According to the random number table method, they were divided into the control group and the observation group, with 75 cases in each group. The control group was given routine publicity, education and follow-up management measures, while the observation group was given hierarchical diagnosis, treatment and nursing management based on the mobile network information platform on the basis of the control group. After 3 months of intervention, levels of cardiac function indexes, disease knowledge scores and nursing satisfaction of patients with coronary heart disease were compared between the two groups.Results:After intervention, the left ventricular ejection fraction in the observation group was higher than that in the control group, and the left ventricular end-systolic diameter and the left anterior descending coronary artery level were lower than those in the control group, and the differences were statistically significant ( P<0.05) . The total score of disease knowledge and the scores of each dimension (disease concept, inducing factors, clinical manifestations, examination methods, treatment methods, drug knowledge, and secondary prevention knowledge) in the observation group were higher than those in the control group, and the differences were statistically significant ( P<0.05) . The total score of the satisfaction scale and the scores of each dimension (perceived quality, perceived value, public expectation, user trust, user participation and public satisfaction) in the observation group were higher than those in the control group, and the differences were statistically significant ( P<0.05) . Conclusions:The implementation of hierarchical diagnosis, treatment and nursing management based on the mobile network information platform is conducive to improving the cardiac function of patients with coronary heart disease at home during the rehabilitation period and it can improve the disease cognition and satisfaction of patients.

Objective:To explore the effect of wireless continuous body temperature monitoring on perioperative body temperature in elderly patients with intertrochanteric fractures.Methods:A total of 120 elderly patients with intertrochanteric fractures who were admitted to the Outpatient Department of the First Affiliated Hospital of Harbin Medical University from June 2018 to June 2020 were selected as the research objects by the convenient sampling method. They were divided into the control group and the observation group by the random number table method, with 60 cases in each group. The control group was given routine perioperative thermal insulation intervention, while the observation group was given wireless continuous body temperature monitoring on the basis of the control group. The changes of perioperative temperature, perioperative hypothermia and other complications were compared between the two groups.Results:The body temperature of patients in the observation group was higher than that of the control group at 30, 60min and after operation ( P<0.05) . The incidence of perioperative hypothermia and other complications in the observation group were lower than those in the control group ( P<0.05) . Conclusions:The application of wireless continuous body temperature monitoring in elderly patients with intertrochanteric fractures can effectively control the perioperative temperature changes of patients and reduce the incidence of perioperative hypothermia and related complications.

OBJECTIVE: To explore the genetic basis for an infant with multiple malformations including congenital heart disease and cleft palate. METHODS: The child and his parents were subjected to conventional chromosomal karyotyping and low-coverage massively parallel copy number variation sequencing (CNV-seq) analysis. RESULTS: The infant was found to have a 46,X,add(Y)(q11.23) karyotype, and his CNV-seq result was seq [hg19] 22q12.1q13.3 (29 520 001-51 180 000)× 3. His parents were found to be normal by both methods. CONCLUSION The additional chromosomal material found on Yq, verified as duplication of 22q12.1-q13.3, may account for the abnormal phenotype in this infant. CNV-seq has provided a useful complement for the diagnosis and more accurate information for genetic counseling.
Abnormalities, Multiple ; genetics ; Child ; Chromosome Duplication ; Chromosomes, Human, Pair 22 ; genetics ; Cleft Palate ; genetics ; DNA Copy Number Variations ; Genetic Testing ; Heart Defects, Congenital ; genetics ; Humans ; Infant ; Karyotyping

Objective: To evaluate the value of preoperative diagnosis of extramural vascular invasion (EMVI) of rectal cancer with 3.0T high-resolution magnetic resonance imaging (MRI) and the MRI-related factors of EMVI in rectal cancer. Methods: The clinical and imaging data of 40 patients with rectal cancer were retrospectively analyzed. The postoperative pathological diagnosis was used as the gold standard to evaluate the diagnostic efficacy of preoperative diagnosis of EMVI of rectal cancer by high-resolution MRI, and to analyze the relationship between the EMVI and clinical and MRI features. Results: Of the 40 patients, 19 cases were diagnosed as positive EMVI and 21 were negative by MRI. Pathological diagnosis of EMVI was positive in 10 cases and negative in 30 cases. The sensitivity, specificity and accuracy of MRI in the diagnosis of EMVI were 100%, 70.0% and 77.5%, respectively. Preoperative MRI and postoperative pathology were moderately consistent in the diagnosis of EMVI in rectal cancer (Kappa=0.538, P<0.001). Pathological EMVI positivity were related to tumor size under MRI examination (P=0.028), degree of differentiation (P<0.001), depth of invasion (P=0.002), lymph node metastasis (P=0.001), liver metastasis (P=0.011), tumor apparent diffusion coefficient (ADC) value (P=0.010) and exponential apparent diffusion coefficient (eADC) value (P=0.003). It also related to extramural nerve invasion by pathological examination (P=0.005). Conclusion According to the EMVI imaging score of rectal cancer, preoperative MRI has a high value in the diagnosis of EMVI of rectal cancer.

Objective: To establish an evidence-based nursing bundle to prevent pressure injury related with operation and observe the clinical application of the bundle. Methods: Clinical practice guidelines, systematic reviews/Meta-analysis, and randomized controlled trials (RCT) about prevention of pressure injuries related operation were acquired by searching databases, websites, manual retrieval and retrospective review. Two researchers independently screened and evaluated the literature, and experts′ advice were combined to form the prevention bundle of pressure injury related operation. A convenient sampling method was used to select 70 patients who underwent surgery in the Third Affiliated Hospital of Sun Yat-sen University. The pre-test for the clinical application of preventing the bundle was carried out to observe the incidence of pressure injury in patients and the implementation rate of each measure. Results: This study included 22 RCTs, 6 systematic reviews/Meta analysis, and 6 clinical practice guidelines. The bundle for preventing pressure injury related operation included: preoperative pressure injury risk assessment, use of decompression flat car transporter, using a pressure reducing device to relieve local pressure, protection of dressing, placing the body position reasonably, adjusting intraoperative position, maintaining normal body temperature and skin cleansing. The frequency of implementation of the four measures of "use of decompression flat car transporter" , "protection of dressing" , "adjusting intraoperative position" , and "maintaining intraoperative skin cleansing" were 0, 17.1% (12/70) , 87.1% (61/70) , 5.7% (4/70) , respectively. The remaining measures were executed at a frequency of 100%. No pressure injury occurred from the beginning of operation to 6 days after operation among 70 patients. Conclusions The prevention bundle of pressure injury related operation can effectively prevent the occurrence of pressure injury related operation. Each of the measures included in the bundle is evidence-based and the interrelations of the various care measures are more focused, comprehensive, and systematic than the clinical practice guidelines.

OBJECTIVE： To investigate the situation and problems of clinical microecological preparations in pediatrics department of China， and to provide reference for rational application of microecological preparations in children. METHODS： Outpatient/emergency prescriptions of microecological preparations during Jan.-Mar. 2019 were retrieved from information system of 5 “Third Grade Class A” children hospitals， and were investigated and analyzed in respects of the type of microecological agents， age distribution， clinical diagnosis， drug combination， off-label medication， etc. RESULTS： A total of 74 210 outpatient/emergency prescriptions were collected， involving 18 kinds of microecological preparations. Among them， Clostridium butyricum combined viable powder ranked first （31 146， accounting for 41.97％）， followed by Brucella yeast powder （14 289， accounting for 19.25％） and Compound Lactobacillus acidophilus tablets （10 281， 13.85％）. The age of children was less than 18 years old， and the proportion of children aged 1-＜3 years old was the highest （33 753， 45.48％）. The most common clinical diagnosis     was digestive tract diseases （54 009， 72.78％）， followed    by respiratory infectious diseases （11 744， 15.83％）. In combination with microecological agents， there were Chinese patent medicine for invigorating the spleen and stomach     （18 546， 24.99％）， antibacterial medicine （10 595， 14.28％） and oral rehydration salt Ⅲ （8 238， 11.10％）. Off-label drug use was found in 19 532 prescriptions （26.32％）， mainly manifesting as super-indications （15 590， 21.01％）， super-usage and dosage （8 098， 14.52％）， super crowd medication （48， 3.91％） was found in a few prescriptions. CONCLUSIONS： There is a high incidence of off-label use of microecological agents in children. Medical staff should standardize prescription behavior and promote rational use of drugs. At the same time， the improvement of the information of children’s medication in drug instructions to ensure the safety and effectiveness of children’s medication should be encouraged.

Objective: To observe the clinical effect of Jiawei-Xiaoxianxiong decoction combined with conventional western medicine for the refractory angina pectoris with Qi stagnation and blood stasis syndrome and to explore its mechanism. Methods: A total of 98 patients who met the inclusion criteria were divided into two groups according to the random number table method, 49 in each group. The control group was treated with conventional therapy. The study group was treated with Jiawei-Xiaoxianxiong decoction on the basis of the control group. Both groups were treated for 4 weeks. The symptom of angina pectoris was scored before and after treatment. The Serum level of cardiotrophin-1 (CT-1), cytochrome C (Cyt C), soluble intercellular adhesion molecule-1 (sICAM-1), von Willebrand Factor (vWF), MDA and SOD were measured by ELISA, and the clinical effect was evaluated. Results: The total effective rate was 75.5% (37/49) in the study group and 63.3% (31/49) in the control group. There was significant difference between two groups (χ²=5.235, P=0.022). After treatment, the level of CT-1 (105.19 ± 12.04 ng/L vs. 158.25 ± 14.18 ng/L, t=19.967), Cyt C (0.53 ± 0.11 ng/L vs. 0.81 ± 0.15 ng/L, t=10.537) in the study group were significantly lower than those in the control group (P<0.01); the serum level of sICAM-1 (261.13 ± 38.40 μg/L vs. 415.55 ± 42.26 μg/L, t=18.930), vWF (105.22 ± 18.63 μg/L vs. 145.57 ± 21.18 μg/L, t=10.013), MDA (4.80 ± 0.59 mol/L vs. 6.21 ± 0.87 mol/L, t=9.389) in the study group were significantly lower than those of the control group (P<0.01); the SOD (12.07 ± 1.84 mol/L vs. 10.89 ± 1.65 mol/L, t=3.342) level in the study group was significantly higher than that of the control group (P<0.01). The number of attacks, duration, degree of pain, nature of pain and nitroglycerin dosage in the study group were significantly lower than those in the control group (t=9.711, 11.521, 8.818, 13.922, 17.791, respectively, all Ps<0.01). Conclusions The Jiawei-Xiaoxianxiong decoction combined with routine western medicine therapy can improve the symptoms of angina and clinical efficacy in patients with refractory angina pectoris of Qi stagnation and blood stasis syndrome. It is speculated that its mechanism may be related to anti-myocardial cell apoptosis, alleviating vascular endothelial injury and antioxidation.