Objective:To carry out genetic analysis on two families with carriers of small terminal translocations using karyotyping analysis and genomic copy number variation sequencing (CNV-seq).Methods:Two couples undergoing prenatal diagnosis at the Tianjin Central Hospital of Obstetrics and Gynecology respectively on April 12, 2020 and December 17, 2021 were selected as the study subjects. With informed consent, amniotic fluid and peripheral blood samples were collected and subjected to conventional karyotyping and CNV-seq analysis for the detection of chromosomal microdeletion/duplications.Results:Both couples had given births to children with chromosomal aberrations previously, and both fetuses were found to have abnormal karyotypes. CNV-seq showed that they had harbored microdeletion/duplications, and their mothers had both carried balanced translocations involving terminal fragments of chromosomes.Conclusion:For fetuses with small chromosomal segmental abnormalities, their parental origin should be traced, and the diagnosis should be confirmed with combined genetic techniques.

In recent years, the application of minimal residual disease (MRD) in solid tumors has gained widespread attention. MRD typically refers to the presence of residual cancer cells that remain undetectable by imaging after curative treatments, such as surgical resection. The presence of MRD post-surgery is significantly associated with an increased risk of tumor recurrence. In colorectal cancer, circulating tumor DNA (ctDNA) serves as an effective marker for assessing MRD, particularly in non-metastatic (stages I-III) colorectal cancer. As a real-time, accurate, and convenient biomarker, ctDNA can effectively predict tumor recurrence, guide postoperative adjuvant chemotherapy decisions, and provide crucial information for recurrence monitoring. The application prospects of ctDNA detection technology are vast, promising more precise and individualized treatment plans for colorectal cancer patients. This article comprehensively analyzes the progress in the application of ctDNA for detecting MRD in non-metastatic colorectal cancer patients, elaborates on its guiding role in clinical treatment decisions, and envisions the future development directions in this field.

Objective To investigate the protective effect of mitochondria-derived peptide MOTS-c on myocardial ischemia reperfusion injury(MIRI)in rats and elucidate its mechanism.Methods The SD rats were randomly di-vided into sham group,MIRI group,MOTS-c group and MOTS-c+PGC-1α inhibitor SR-18292 group(MOTS-c+SR-18292),with 10 rats in each group.The MIRI model was established by ligating the anterior descending branch of the coronary artery MOTS-c peptide(1 mg/kg),SR-18292(20 mg/kg)and equal volume concentration of 1％dimethyl sulfoxide were administered via tail vein at 1 h before operation and immediately after operation.At 24 h after surgery,TTC staining was used to observe myocardial infarction size.HE staining was used to observe the pathological changes of myocardial tissue.TUNEL staining was used to detect myocardial apoptosis.ELISA and biochemical kits were used to measure the levels of myocardial injury markers and oxidation indicators in serum of each group.The relative copy number of mtDNA in myocardial tissues was detected by qRT-PCR.The mitochondri-al biosynthesis-related protein expression levels in myocardial tissues were detected by Western blot.Results Compared with sham group,MIRI group had serious myocardial injury,myocardial infarction size and increased ap-optosis level(P＜0.05).The mtDNA relative copy number in myocardial tissue decreased(P＜0.05).The con-tents of CK-MB,LDH,cTnI in serum and MDA in myocardial tissue increased(P＜0.05).SOD content and PGC-1α,NRF-1 and TFAM protein expression levels in myocardial tissue decreased(P＜0.05).Compared with MIRI group,myocardial injury in MOTS-c group was significantly improved,myocardial infarction size and apopto-sis level decreased(P＜0.05).The mtDNA relative copy number in myocardial tissue increased(P＜0.05).The contents of CK-MB,LDH,cTnI in serum and MDA in myocardial tissue decreased(P＜0.05).The SOD content and the expression levels of PGC-1α,NRF-1 and TFAM in myocardial tissue increased(P＜0.05).Compared with MOTS-c group,the myocardial infarction size and apoptosis level of rats in MOTS-c+SR-18292 group in-creased(P＜0.05).The mtDNA relative copy number in myocardial tissue decreased(P＜0.05).The contents of CK-MB,LDH,cTnI in serum and MDA in myocardial tissue increased(P＜0.05).SOD content and PGC-1 α,NRF-1 and TFAM protein expression levels in myocardial tissue decreased(P＜0.05).Conclusion MOTS-c peptide can improve myocardial injury in MIRI rats by promoting mitochondrial biosynthesis and inhibiting cardio-myocyte apoptosis,and its mechanism may be related to up-regulation of PGC-1α expression.

Children and adults differ significantly in physiology,biochemistry and immune function,which leads to sig-nificant differences in blood transfusion strategies between children and adults.To guide the clinical transfusion practice of pediatric patients and improve the prognosis of children,the National Health Commission organized the formulation and re-lease of the health industry standard Guideline for Pediatric Transfusion(WS/T 795-2022).This paper will briefly introduce some concepts that help understand of the Standard and the preparation process of the Standard,and explain and interpret the preparation of the"scope","general provisions"and"factors to consider"of the Standard,hoping to contribute to the understanding and implementation of the Standard.

Oromucosal drug delivery preparations offer advantages such as convenient administration,suitability for patients with dysphagia,rapid onset of action,and avoidance of first-pass metabolism in the liver.The 2020 edition of the Chinese Pharmacopoeia,EP11.0,BP2022,USP44-NF39,and JP18 all include relevant standards for the quality control of different oromucosal drug delivery systems.This article compares the differences in general re-quirements for oromucosal formulations among different countries and provides an overview of inspection items for marketed oral mucosal formulations and those documented in pharmacopoeias both domestically and internationally.Foreign pharmacopoeias include a wide range of oromucosal drug delivery formulations,with more refined quality control measures for systemic action.These findings can serve as a reference for the improvement and enhancement of standards for oromucosal drug delivery systems in China.

Objective To compare image quality of 5.0T and 3.0T time of flight MR angiography(TOF-MRA)and displaying choroidal anterior arteries(AChA).Methods Data of 80 patients who underwent head 5.0T(5.0T group,n=40)and/or 3.0T TOF-MRA(3.0T group,n=42)were retrospectively analyzed,among them 2 patients underwent both 5.0T and 3.0T TOF-MRA.The subjective scoring and objective evaluation of image quality were performed,and the results were compared between groups.AChA was divided into proximal,intermediate and distal segments(A1,A2,A3 segment),the quantity of left and right AChA shown on 5.0T and 3.0T TOF-MRA were recorded,and the length and diameter of left and right AChA dispalyed on MRA were comparatively observed.Results The subjective scores of image quality of 5.0T group were higher than that of 3.0T group(5.0[4.0,5.0]vs.5.0[3.0,5.0],Z=6.417,P=0.029).The signal-to-noise ratio(91.01±5.04)and contrast-to-noise ratio(72.47±5.14)of 5.0T group were both larger than those of 3.0T group([62.11±4.16],[48.92±4.62],t=28.339,19.681,both P＜0.001).There were 80 segments of AChA-A1,80 of AChA-A2 and 60 segments of AChA-A3 displayed on 5.0T TOF-MRA,while 60 segments of AChA-A1,36 of AChA-A2 and 12 segments of AChA-A3 displayed on 3.0T TOF-MRA,respectively.In 5.0T group,the length of the left and right AChA was(24.01±7.41)mm and(22.72±9.36)mm,with diameter of(1.16±0.12)mm and(1.19±0.14)mm,respectively,whereas in 3.0T group,the relative values were(18.35±8.67)mm,(16.80±6.94)mm,(0.99±0.25)mm and(0.95±0.29)mm,respectively,all in 5.0T group were greater than in 3.0T group(t=3.242,3.183,4.595,3.846,all P＜0.001).Conclusion Compared with 3.0T TOF-MRA,5.0T TOF-MRA of AChA might provide better image quality and clearer vessel depiction,being helpful to clinical diagnosis and treatment of ACHA-related cerebral vascular diseases.

In recent years, the application of minimal residual disease (MRD) in solid tumors has gained widespread attention. MRD typically refers to the presence of residual cancer cells that remain undetectable by imaging after curative treatments, such as surgical resection. The presence of MRD post-surgery is significantly associated with an increased risk of tumor recurrence. In colorectal cancer, circulating tumor DNA (ctDNA) serves as an effective marker for assessing MRD, particularly in non-metastatic (stages I-III) colorectal cancer. As a real-time, accurate, and convenient biomarker, ctDNA can effectively predict tumor recurrence, guide postoperative adjuvant chemotherapy decisions, and provide crucial information for recurrence monitoring. The application prospects of ctDNA detection technology are vast, promising more precise and individualized treatment plans for colorectal cancer patients. This article comprehensively analyzes the progress in the application of ctDNA for detecting MRD in non-metastatic colorectal cancer patients, elaborates on its guiding role in clinical treatment decisions, and envisions the future development directions in this field.

Aim To explore the related influencing factors of stroke in middle-aged and elderly population in China,and to construct a nomogram prediction model to provide more personalized reference for the prevention and treat-ment of stroke.Methods This study included 13 063 participants from the China Health and Retirement Tracking Survey project.This project conducted a cross-sectional survey in 2011 using a multi-stage sampling method,targeting in-dividuals aged 45 and above from 150 counties and 450 communities(villages)in 28 provinces(autonomous regions and municipalities).Detailed data were collected on participants'socio-demographic characteristics,physical measurements,health status,healthcare utilization,household income,and expenditure.The study participants were followed up to as-sess stroke in 2013,2015,and 2018.Univariate and multivariate Cox regression analyses were employed to identify the factors associated with stroke incidence and to construct a nomogram predictive model.Results During the follow-up,774 participants developed to stroke.Multivariate Cox regression results showed that older age(HR=1.028,95％CI:1.019-1.038),being single(HR=1.295,95％CI:1.031-1.626),smoking(HR=1.264,95％CI:1.074-1.489),abnormal body mass index(HR=1.204,95％CI:1.020-1.420),hypertension(HR=2.200,95％CI:1.855-2.609)and diabetes(HR=1.483,95％CI:1.117～1.970)were the risk factors affecting the incidence of stroke,high levels of annual per capita expenditure(HR=0.783,95％CI:0.642-0.953)are antagonistic factors in the incidence of stroke.The nomogram constructed based on the above factors had good predictive performance,and its area under the curve(AUC)was about 0.700.Conclusion Old age,being single,smoking,abnormal body mass index,history of hypertension and diabetes are independent risk factors for stroke,the nomogram constructed based on these factors can help predict the incidence rate of stroke.

The Chinese Neonatal Network(CHNN) was established in 2018 with the mission of establishing a national collaboration platform, conducting high-quality and collaborative research, and ultimately improving the quality of neonatal-perinatal care and health in China.At present, 112 hospitals across the country have joined CHNN.CHNN has established a national standardized cohort of very premature infants/very low birth weight infants with >10 000 enrollments each year, has been leading data-driven collaborative quality improvement initiatives, conducting multicenter clinical studies, and performing multi-level training programs.Guided by the principles of collaboration and sharing, data-driven, continuous improvement, and international integration, CHNN has become an important platform for clinical and research collaboration in neonatal medicine in China.

Objective:To study the duration of invasive mechanical ventilation (MV) and its influencing factors after neonatal abdominal surgery under general anesthesia in neonatal intensive care unit (NICU).Methods:From January 2018 to December 2020, neonates received abdominal surgery under general anesthesia and needed endotracheal intubation and MV after surgery in NICU of our hospital were retrospectively studied. According to MV duration, the neonates were assigned into <72 h group and ≥72 h group. Multivariate logistic regression was used to analyze the risk factors of postoperative MV duration.Results:A total of 113 neonates were enrolled, including 57 male (50.4%) and 56 female (49.6%). The gestational age was (35.7±3.6) weeks, the birth weight was (2 497±933) g, the average operation age was 9.9(3.6, 22.2) d and the average hospital stay was 22.0(12.0,37.0) d. Congenital intestinal obstruction (37/113, 32.7%) was the most common diagnoses on discharge, followed by neonatal necrotizing enterocolitis(28/113,24.8%) and gastrointestinal perforation (18/113,15.0%). The duration of operation was 80.0 (55.8,117.3) min. All neonates needed MV with endotracheal intubation. The duration of postoperative respiratory support was 30.0(7.0,84.5) h. 48 neonates (42.5%) had endotracheal intubation removed within 24 h after surgery. Multivariate logistic regression analysis showed that preoperative respiratory support ( P=0.004), congenital heart disease( P=0.013) and intravenous midazolam ( P=0.032) were independent risk factors for prolonged postoperative MV. Conclusions:The need of preoperative respiratory support, congential heart disease and intravenous midazolam were independent risk factors for the duration of postoperative MV after neonatal abdominal surgery under general anesthesia.