Objective:To analyze the genetic etiology of spontaneous abortion in the first trimester.Methods:This study was a retrospective analysis. The subjects were 815 pregnant women who voluntarily underwent genetic testing of pregnancy miscarriage embryos due to spontaneous abortion or embryonic development arrest in six to thirteen gestational weeks from January 2021 to December 2022. High-throughput sequencing technology was used to detect the abortion tissue, and the results were analyzed by bioinformatics method. Statistical analysis was conducted using the Chi-square test. Results:(1) Chromosomal abnormalities were detected in 525 out of 815 cases (64.4%), including 479 cases (91.2%) of numerical abnormalities (421 cases of aneuploidy and 58 cases of triploidy), 44 cases (8.4%) of structural abnormalities (copy number variation, CNV), and two cases (0.4%) of uniparental disomy. (2) Among the numerical abnormalities, aneuploidy was the most common (87.9%, 421/479), involving all chromosomes except chromosome 1. Trisomy 16 had the highest frequency (17.5%, 84/479), followed by monosomy X (13.4%, 64/479) and trisomy 22 (11.3%, 54/479). Multiple chromosomal abnormalities were present in 27 cases (5.6%). Among the nine cases of autosomal monosomy, there were seven cases of monosomy 21, and one case each of monosomy 18 and monosomy 4. (3) Among the 44 cases of structural abnormalities, 62 pathogenic or possible pathogenic CNVs were identified, with fragment lengths ranging from 1.08 Mb to 103.81 Mb, averaging 19.58 Mb.Chromosome 8 was the most involved in CNV, with 16 cases (25.8%, 16/62), followed by chromosome 4 and 18 with six cases each (9.7%,6/62).Of the 62 CNVs, ten (16.1%) were ≤5 Mb in size, including three cases of microdeletion syndromes.(4) For embryos without autosomal numerical abnormalities indicated by low-depth copy number variation sequencing (CNV-seq) results, quantitative fluorescence polymerase chain reaction verification was performed, detecting two cases of complete uniparental disomy, both of which were paternal uniparental disomy and identified as complete hydatidiform moles. (5) Among the 44 cases where CNV-seq results indicated the presence of CNV in the embryos, 32 cases opted for peripheral blood karyotype analysis, with nine cases (28.1%) identified as carriers of balanced chromosomal translocations in one of the parents. These nine samples all involved variations in two chromosomes, both located at the chromosome ends. For CNV with fragment sizes≤5 Mb, two cases underwent CytoScan 750K array testing, and the chip results were consistent with the CNV-seq sequencing results. (6) Among the 32 couples who underwent peripheral blood karyotype analysis, nine underwent fluorescence in situ hybridization (FISH) testing for chromosomal regions, with six cases showing normal results and three showing abnormalities. The FISH abnormal regions were consistent with the karyotype results. (7) The rate of chromosomal abnormalities in embryos from pregnant women aged≥35 years, as well as the rate of numerical chromosomal abnormalities, were significantly higher than in those aged <35 years [75.8% (182/240) vs. 59.6% (343/575), χ2=23.37; 73.3% (176/240) vs. 53.2% (306/575), χ2=19.34; both P<0.001]. There was no statistically significant difference in the rate of structural chromosomal abnormalities between the two groups. Conclusion:Abnormal chromosome number is the main cause of spontaneous abortion in the first trimester, which is more obvious in pregnant women with abortion age≥35 years. CNV-seq may be more suitable for the detection of spontaneously aborted embryos in the first trimester.

Objective To provide references for reasonable equipping of airborne medical equipment oriented to different tasks by constructing a medical equipment requirement model for the helicopter evacuation and rescue team.Methods Relevant basic data were collected and organized on time for routine and emergency medical treatment and elementary medical equipment requirements for types of medical treatment.AnyLogic multi-agent modeling was used to established a medical equipment requirement model for the helicopter evacuation and rescue team,with the casualty,equipment and medical personnel as the agent modules and the logical relationship-based access rules between the agents.An example was taken with a Z-8 helicopter transformed into an ambulance platform to transport the rescue team and casualties,in which a variety of evacuation tasks with multi combinations of light and serious casualties were simulated and the model developed was used to record and analyze the data on waiting time for medical treatment,completion rate,personnel utilization rate and equipment requirement during 100 times of simulation flight.Results The model developed could provide generalized medical equipment allocation programs for the helicopter evacuation and rescue team to complete a variety of evacuation tasks in terms of electronic device,treatment equipment,auxiliary instrument and medical consumables.Conclusion The model developed facilitates rational allocation of medical equipment for the helicopter evacuation and rescue team.[Chinese Medical Equipment Journal,2024,45(5):28-33]

Hepatic ascites is one of the common and difficult complications in the decompensated stage of liver cirrhosis， and its incidence is increasing. In clinical practice， the prognosis of patients with hepatic ascites after surgery is worse， and the disease is recurrent. Traditional Chinese medicine （TCM） has certain advantages in treating hepatic ascites. However， there is no uniform standard for the preparation of animal models of hepatic ascites in accordance with TCM evidence. Therefore， this paper summarized the literature on animal models of hepatic ascites and analyzed the existing animal models of hepatic ascites based on the clinical diagnostic criteria of hepatic ascites in TCM and western medicine. The results show that the commonly used modeling methods for hepatic ascites mainly include the single-factor method， composite factor induction method， surgical method， and immunization method. Most of them are guided by western medicine theories， and their pathogenic mechanisms are mostly consistent with those of western medicine and are different from TCM evidence. Therefore， it is suggested that TCM intervening factors should be imposed in the process of model preparation， so as to prepare an animal model of hepatic ascites that meets the clinical evidence characteristics of TCM and western medicine.

Needle-free injection technology (NFIT) refers to the drug delivery systems in which drugs are propelled as high-speed jet streams using any of the pressure source to penetrate the skin to the required depth. NFIT is a promising drug delivery system as it enables the injection of liquids, powders, and depot/projectiles, and has the advantages of preventing needle stick accidents, improving drug bioavailability, eliminating needle-phobia, increasing vaccine immunity, simplifying operations and is convenient for patients to use. NFIT and its research background, the structure and classification of needle-free jet injectors (NFJI), drugs that can be delivered using NFJI and the factors affecting the injection effect are comprehensively reviewed in this paper. The limitations and potential development directions are summarized to provide a theoretical basis for the application and development of NFIT.

Objective:To explore the genetic etiology for a Chinese pedigree affected with Treacher-Collins syndrome (TCS) through whole exome sequencing (WES).Methods:A TCS pedigree which was diagnosed at the Women and Children′s Hospital Affiliated to Qingdao University on February 5 2020 was selected as the study subject. Following collection of clinical data, WES was carried out. Candidate variant was validated through Sanger sequencing and bioinformatic analysis..Results:The WES results showed that the proband has harbored a heterozygous c. 3337C>T variant of the TCOF1 gene, and Sanger sequencing confirmed that his mother and brother also carried the same variant. Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted as pathogenic (PVS1+ PM2_Supporting+ PP4). Conclusion:The heterozygous c. 3337C>T variant of the TCOF1 gene probably underlay the pathogenesis of TCS in this pedigree.

Objective:To explore the genetic basis for a Chinese pedigree affected with Brachydactyly type B1 (BDB1) through whole exome sequencing (WES).Methods:A BDB1 pedigree admitted to the Affiliated Women and Children′s Hospital of Qingdao University on June 25, 2021 was selected as the study subject. Clinical data of the pedigree was collected with informed consent. WES was carried out for the proband, and candidate variant was verified by Sanger sequencing and bioinformatic analysis.Results:WES and Sanger sequencing had identified a heterozygous c. 2257delT variant in the ROR2 gene of the proband and his affected father, which has conformed to an autosomal dominant pattern of inheritance. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified to be likely pathogenic (PVS1_Strong+ PM2 Supporting+ PP4). Conclusion:The c. 2257delT variant of the ROR2 gene was unreported previously and is strongly correlated with the BDB1-like phenotype in this pedigree. Above finding has enriched the mutational spectrum of the ROR2 gene and facilitated the diagnosis and genetic counseling for this pedigree.

Hepatocellular carcinoma (HCC) is characterized by high postoperative recurrence and mortality rates. In recent years, researchers have identified a significant correlation between microvascular invasion (MVI) and early postoperative recurrence and metastasis of HCC, making it a focal point of HCC research. Accurate preoperative prediction of MVI occurrence and the implementation of relevant interventions (such as expanded resection) could provide substantial benefits to patients. This study analyzes global research over the past decade on MVI predictive indicators based on tumor biological characteristics, genetic measurements, imaging examinations, and tumor markers. The aim is to use these predictive indicators to objectively forecast the occurrence of MVI, thereby aiding in preoperative individual assessments and enhancing treatment plans.

In this study,the existing animal models of alopecia areata were systematically summarized based on literature review and disease and syndrome characteristics assignment method,and the clinical anastomosis was analyzed.The results showed that cell induction and skin transplantation had a high anastomosis with the clinic,and the anastomosis was as high as 80%.The anastomosis between imiquimod cream and cyclophosphamide induced alopecia areata was 72%.C3H/HeJ mice and C57BL/6 mice were selected as the first choice in terms of the pathogenesis of alopecia areata disease,pathogenic factors,replicability,convenience and practicability of the model.Other SCID mice,B6.KM-AA mice,SD rats and BALB/c mice can be selected appropriately according to the content and period of the experimental study of alopecia areata.It is found that the existing models of alopecia areata mainly rely on Western medicine,lack of pathogenic factors of traditional Chinese medicine,and the model of combining disease and syndrome of alopecia areata is not widely used in practice.Based on this,it is suggested that the animal model of"combination of disease and syndrome"should be considered in the subsequent construction of alopecia areata model to make it more suitable for clinical characteristics of disease and syndrome.We can add the relevant indicators of different syndrome types of liver and kidney insufficiency,blood stasis and maoqiao,blood deficiency and blood heat and other pathogenic factors,and add the apparent indicators of animal mental state,diet and water intake,behavior,etc.,to improve the animal model of alopecia areata which is highly consistent with the clinical characteristics of traditional Chinese and western medicine.

OBJECTIVE: To investigate the short-term effectiveness of transverse antecubital incision in the treatment of failed closed reduction of Gartland type Ⅲ supracondylar humeral fractures (SHFs) in children. METHODS: Between July 2020 and April 2022, 20 children with Gartland type Ⅲ SHFs who failed in closed reduction were treated with internal and external condylar crossing Kirschner wire fixation through transverse antecubital incision. There were 9 boys and 11 girls with an average age of 3.1 years (range, 1.1-6.0 years). The causes of injuries were fall in 12 cases and fall from height in 8 cases. The time from admission to operation ranged from 7 to 18 hours, with an average of 12.4 hours. The healing of the incision and the occurrence of complications such as nerve injury and cubitus varus were observed after operation; the elbow flexion and extension range of motion after removing the gypsum, after removing the Kirschner wire, and at last follow-up were recorded and compared, as well as the elbow flexion and extension and forearm rotation range of motion at last follow-up between healthy and affected sides; the Baumann angle was measured on the X-ray film, and the fracture healing was observed. At last follow-up, the effectiveness was evaluated according to the Flynn elbow function evaluation criteria. RESULTS: All incisions healed by first intention, and there was no skin necrosis, scar contracture, ulnar nerve injury, and cubitus varus. Postoperative pain occurred in the radial-dorsal thumb in 2 cases. The gypsum was removed and elbow flexion and extension exercises were started at 2-4 weeks (mean, 2.7 weeks) after operation, and the Kirschner wire was removed at 4-5 weeks (mean, 4.3 weeks). All the 20 patients were followed up 6-16 months, with an average of 12.4 months. The fracture healing time was 4-5 weeks, with an average of 4.5 weeks, and there was no complication such as delayed healing and myositis ossificans. The flexion and extension range of motion of the elbow joint gradually improved after operation, and there were significant differences between the time after removing the gypsum, after removing the Kirschner wire, and at last follow-up ( P<0.017). There was no significant difference in the flexion and extension of the elbow joint and the forearm rotation range of motion between the healthy and affected sides at last follow-up ( P>0.05). There was no significant difference in Baumann angle between the time of immediate after operation, after removing the Kirschner wire, and at last follow-up ( P>0.05). According to Flynn elbow function evaluation standard, 16 cases were excellent and 4 cases were good, the excellent and good rate was 100%. CONCLUSION The treatment of Gartland type Ⅲ SHFs in children with failed closed reduction by internal and external condylar crossing Kirschner wire fixation through transverse antecubital incision has the advantages of complete soft tissue hinge behind the fracture for easy reduction and wire fixation, small incision, less complications, fast fracture healing, early functional recovery, reliable reduction and fixation, and can obtain satisfactory results.
Male ; Female ; Humans ; Child ; Child, Preschool ; Calcium Sulfate ; Humerus ; Humeral Fractures/surgery* ; Plastic Surgery Procedures ; Fracture Fixation, Internal/methods* ; Bone Wires ; Fracture Healing ; Treatment Outcome ; Range of Motion, Articular

OBJECTIVE: To explore pathogenesis of glucocortocoid-induced osteoporosis(GIOP) based on label-free mass proteomics. METHODS: Twevle female Sprague-Dawley(SD) rats were randomly divided into two groups, named as sham group and GIOP group. After one-week adaptive feeding, the rats of GIOP group were administered with dexamethasone via intramuscular injection according to 2.5 mg/kg weighting, while the rats of sham group were administered with the same amount of saline, twice a week. The tibias of each group were collected after 8-week modeling and made pathological sections to confirm the success of modeling. Three samples of each group were picked up to perform label-free mass proteomics. After quality control, differentially expressed proteins were identified according to qualitative and quantitative analyses. Then gene ontology(GO) and Kyoto encyclopedia of genes and genomes (KEGG) enrichment analysis, cluster analysis as well as protein-protein interaction analysis were performed using bioinformatics analysis. RESULTS: Compared with sham group, the structure of bone trabecular in GIOP group showed abnormal arrangement, uneven distribution and obvious fragmentation, which could demonstrate successful modeling. A total of 47 differentially expressed proteins (DEPs) were identified including 20 up-regulated and 27 down-regulated proteins. The expression of protein nucleophosmin 1(NPM1), adipocyte plasma membrane associated protein (APMAP), cytochromec oxidase subunit 6A1 (COX6A1) and tartrate-resistant acid phosphatase (ACP5) showed a significant difference between two groups. KEGG results showed DEPs were enriched on metabolism-related pathways, immune-related pathways and AMP-activated kinase (AMPK) signaling pathway. CONCLUSION Protein NPM1, APMAP, COX6A1 and ACP5 showed a close relationship with pathogenesis of GIOP, which could serve as potential biomarkers of GIOP. AMPK signaling pathway played an important role in the occurrence and development of GIOP, which could be regarded as potential signaling pathway to treatment GIOP.
Female ; Rats ; Animals ; Glucocorticoids/adverse effects* ; AMP-Activated Protein Kinases ; Proteomics ; Rats, Sprague-Dawley ; Osteoporosis/genetics* ; Nuclear Proteins/adverse effects*