Prenatal diagnosis and genetic analysis of seven fetuses with 16p12.2 microdeletion or microduplication / 中华围产医学杂志

Objective:To investigate the prenatal ultrasonographic features and diagnosis of 16p12.2 copy number variation (CNV).Methods:This retrospective study recruited seven fetuses with 16p12.2 microdeletion/microduplication in the First Affiliated Hospital of Fujian Medical University from January 2017 to December 2021. Data, including the prenatal diagnostic indications, ultrasound findings, karyotypes, genetic testing and mutation tracing results, pregnancy outcomes, and postnatal follow-up data, were summarized with descriptive statistical analysis.Results:Prenatal ultrasound indicated three fetuses with structural abnormalities, including one case each of multiple malformations, interventricular septal defect, and cleft lip and palate. The other four cases were positive for ultrasonic soft markers involving the heart and kidney. The chromosome karyotypes of the seven fetuses were normal. Single nucleotide polymorphism array (SNP array) results showed that four cases had a 381.7-542.4 kb microdeletion containing three genes ( OTOA, METTL9, and IGSF6) in Online Mendelian Inheritance in Man (OMIM) at 16p12.2 (distal region) and three cases had a 484.0-701.7 kb microdeletion/microduplication containing four OMIM genes ( UQCRC2, CDR2, EEF2K, and POLR3E) at 16p12.2 (proximal region). Five (cases 1, 2, 4, 5, and 6) out of the seven fetuses inherited the variants from their phenotypically normal mother/father, and among them, three (cases 2, 4, and 5) were delivered at term and healthy. Two cases (cases 3 and 7) refused to undergo pedigree verification. Case 3, a full-term infant, underwent ventricular septal defect repair three months after birth, and no abnormality was found at 18 months of age. Conclusions:No specific phenotype presents in fetuses with 16p12.2 microdeletion/microduplication in prenatal diagnosis. OTOA gene is the key gene associated with abnormality in the distal region of 16p12.2. Pedigree analysis is conducive to preventing unnecessary termination of pregnancy.

Research on the construction of ideological and political teaching resource database for College English course in medical colleges from the perspective of students / 中华医学教育探索杂志

Objective:To probe the exploration and integration of ideological and political teaching resources for College English by medical students' teams, and to build a College English ideological and political teaching resource database in medical colleges, so as to provide feasible experience for the integration of medical students' College English and ideological and political education.Methods:A questionnaire survey was conducted among 1 030 students in a medical college, and SPSSAU statistical software was employed to analyze the results to investigate the attitudes and demands of students towards the integration of English teaching and ideological and political education, the construction methods of College English ideological and political teaching resource database, and the presentation methods and types of resources. Based on the questionnaire results, textbook themes, teaching modules and students' majors, the content analysis and classification method were employed to construct a College English ideological and political teaching resource database that meets the expectations of medical students.Results:① A total of 836 students agreed with the necessity to integrate College English with ideological and political education, hoping to build an ideological and political resource database with videos and audios related to daily life ( n = 731), medical knowledge ( n = 664), social practice ( n = 622), news and current affairs ( n = 604) and guide the students to learn the above resources through the methods "teacher instruction + classroom discussion" ( n = 528). ② The ideological and political integration points in the questionnaire results were matched according to the subjects of the textbook, and further divided into two categories: universal and medically specific ideological and political teaching elements according to the content of the unit modules. Finally, the resource database of College English ideological and political teaching in medical colleges was built. Conclusion:Outstanding courses and resources are jointly explored and built by teachers and students.

Metabolome alterations in Clonorchis sinensis after treatment with tribendimidine and praziquante in vivo.

Tribendimidine (TBD) is a broad-spectrum anthelmintic drug that is also significantly effective in treating clonorchiasis. In this study, the altered metabolomes of Clonorchis sinensis (C. sinensis) in rats after TBD administration were quantified by using ultrahigh-performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS) and gas chromatography-mass spectrometry (GC-MS) to explore the possible active sites of TBD against clonorchiasis through altered metabolites and metabolic pathway analysis, and the results are expected to provide a target for the future design of anti-Clonorchis sinensis drugs. The worm burden reduction rate and scanning electron microscopy demonstrated that praziquantel (PZQ, positive control drug) and TBD had significant effects on C. sinensis in rats after treatment at a single dose of 200 mg/kg for 24 h. For the MS-based metabolomic analysis, a total of 173 standard metabolites (126 amino acids, 10 phospholipids and 37 fatty acids) were utilized as a reference metabolite database for metabolome identification. In total, 32 amino acids, 71 phospholipids and 27 fatty acids were detected in the C. sinensis of each group. Among these metabolites, 10 amino acids were significantly decreased in both drug-treated groups. Four lysophosphatidyl cholines (LPCs), six lysophosphatidyl ethanolamines (LPEs) and one phosphatidyl inositol (PI) were significantly increased after treatment with TBD. There were no significant changes in fatty acids among the control group and the two drug-treated groups. The results indicated that TBD administration caused a decrease in amino acids involved in the metabolic pathways of energy consumption and an increase in lysophospholipids, which are the hydrolysis products of phospholipase2 (PLA2) in the phospholipid metabolic pathways. The increased lysophospholipid content can destroy the cell membrane, increase membrane permeability, and even cause exposure to internal antigens that can be attacked by host antibodies. Perhaps the destroyed membrane, the exposed internal antigens and the consumed energy are the cause of the damage and death of C. sinensis after TBD administration. This is an interesting problem that can be examined in future research.

Analysis of mortality and leading causes of death in Chinese children under 5-year-old between 2010 and 2016 / 中华预防医学杂志

We collected death data of children under 5-year-old in China from the national child mortality surveillance system from 2010 to 2016. The change of mortality rate and causes of death were described. The mortality rate of Chinese children under 5-year-old decreased from 16.4‰ to 10.2‰ in all areas between 2010 and 2016, from 20.1‰ to 12.4 ‰ in rural areas and from 7.3‰ to 5.2‰ in urban areas, respectively, with a greater average annual decreasing rate in rural areas than urban area. During these years, in addition to traffic accidents and sepsis, other 8 cause-specific mortality rates showed a downward trend. There were substantial decreases of mortality rates of premature birth or low birth weight, birth asphyxia and neural tube defects. In urban areas, the mortality rate of premature birth or low birth weight, birth asphyxia decreased, and the mortality rate of congenital heart disease and diarrhea substantially decreased. However, there was a substantial increase of mortality rate of septicemia in urban areas. In rural areas, the change of major cause-specific mortality rates were consistent with the national trend.

Qualitative study on experience of nursing undergraduates in the application of constructivism in obstetrics and gynecology / 中国实用护理杂志

Objective To study the practical experience of constructivism teaching in clinical practice of obstetrics and gynecology nursing, to understand the application effect and existing problems of constructivism, and to provide the basis for improving and perfecting probation teaching methods. Methods Using the phenomenological research method in qualitative research, we conducted semi-structured in- depth interviews with 12 undergraduates, and analyzed and sorted the information. Results Nursing undergraduates The practice of obstetrics and gynecology in obstetrics and gynecology mainly includes four topics: Promote autonomous learning, build implementation situation, the embodiment of the team cooperation spirit and ability, the importance of teachers' guidance.Conclusions Constructivism is applied to obstetrics and gynecology practice, which can promote the enthusiasm of nursing students to learn independently, realize the construction of clinical situation, solve the problem through collaboration, put forward higher requirements on the instructive function of teachers, Constructivism model used in nursing undergraduate trainee deficiencies in order to ensure the use of constructivism in clinical nursing teaching in the smooth implementation and quality assurance.

Risk factors and anticoagulation parameters in patients of acute exacerbation of chronic obstructive pulmonary disease combined with deep venous thrombosis / 中国医师进修杂志

Objective To investigate the risk factors and anticoagulation parameters in patients of acute exacerbation of chronic obstructive pulmonary disease (AECOPD) combined with deep venous thrombosis (DVT). Methods All of 110 AECOPD patients were divided into two groups according to Doppler examination of lower extremities: DVT group and non-DVT group. The risk factors and anticoagulation parameters were compared. Results Twelve cases (10.9%) were in DVT group,of whom 2 cases (1.8%)had pulmonary embolism. The rate of lying in bed > 3 d, smoke, mechanical ventilation, hospital stays and the levels of PaCO2 were significantly higher in DVT group than those in non-DVT group (P < 0.01 or <0.05 ). In DVT group, the activity of antithrombin Ⅲ and the level of protein S decreased (P < 0.05 ), and the level of D-Dimer increased (P < 0.05). Conclusions Long-term bed, smoke and mechanical ventilation requirement are the main risk factors of DVT in patients with AECOPD. Respiratory failure (type Ⅱ ) is easier to combine with DVT. Abnormality of coagulation and fibrinolytic system exists in AECOPD with DVT.