[Prenatal screening and prenatal diagnosis clinical laboratory diagnostic pathway].

Congenital defects and genetic diseases in the fetus are the focus of prenatal screening and prenatal diagnosis. Obstetrics and gynecology, pediatrics, medical imaging (ultrasound and magnetic resonance imaging), clinical laboratory, pathology, and other disciplines are mostly involved in this multidisciplinary work on maternal and infant health care, which aims to prevent birth defects in strict accordance with laws, regulations, and pertinent industry standards, such as the Notice of the National Health Commission on Issuing the Basic Standards for Prenatal Screening Technical Medical Institutions and the Basic Standards for Prenatal Diagnosis Technical Medical Institutions (Guowei Maternal and Child Letter [2019] No. 297). To further support the implementation of prenatal screening and diagnosis work and streamline workflow, this study has compiled the timing, inspection, and testing procedures of various projects in each link from the standpoint of the disease clinical laboratory diagnostic pathway. This approach improves communication amongst various disciplines in prenatal screening and diagnosis work and offers clinical service quality, and it also helps improve the standard of the birth population and prevent and controll severe birth defects.

Multi-targeted therapeutic effects of Sankudiwan (SKDW) in myocardial ischemia-reperfusion injury: a comprehensive study.

OBJECTIVE: This study aimed to investigate the therapeutic effects and underlying mechanisms of Sankudiwan (SKDW) on myocardial ischemia-reperfusion injury (MIRI) in a rat model. MATERIALS AND METHODS: Rats were subjected to MIRI and treated with varying doses of SKDW. The myocardial infarct size, cardiac function, histological changes, apoptosis, and inflammation were assessed using TTC staining, echocardiography, Hematoxylin and Eosin (HE) staining, TUNEL staining, and ELISA assays. We further explored SKDW's influence on cardiomyocyte mitochondria and inflammatory factor expression. Moreover, oxidative stress-related parameters and differentially expressed genes were analyzed using bioinformatics approaches. RESULTS: SKDW significantly reduced myocardial infarct size and improved cardiac function, demonstrating a dose-dependent therapeutic potential. It ameliorated myocardial tissue damage at the histological level, inhibited cardiomyocyte apoptosis, and mitigated inflammatory response. SKDW also enhanced mitochondrial energy metabolism and suppressed the levels of oxidative stress markers. Bioinformatics analysis identified key differentially expressed genes (DEGs), including cbln1, Tgm1, Trh, and Ccl27, possibly mediating the therapeutic effects of SKDW. CONCLUSIONS: SKDW exerts its therapeutic effects on MIRI through the modulation of several genes and pathways related to inflammation, apoptosis, mitochondrial function, and oxidative stress. Our findings provide a scientific basis for the clinical application of SKDW in the treatment of MIRI.

[Epidemiological characteristics of tick-borne infectious diseases in Hubei Province, 2016-2021].

Objective: To understand the epidemiological characteristics of tick-borne infectious diseases (TBID) and the risk factors of severe illness and death in Hubei Province from 2016 to 2021. Methods: Based on the incidence data of fever with thrombocytopenia syndrome (SFTS), tsutsugamushi disease, typhus and other TBID reported during 2016-2021, the epidemiological analysis was conducted. Field investigation results of TBID in areas with high incidence in 2021, logistic regression analysis of population characteristics, epidemiological history and other factors were used to explore the risk factors of severe and fatal cases. In the field vector investigation, free ticks and surface ticks of the host animals in the cases' home and surrounding grassland were monitored and detected. Results: A total of 3 826 TBID cases were reported in Hubei from 2016 to 2021, of which 71.30% (2 728/3 826) were SFTS, 13.04% (499/3 826) were tsutsugamushi disease and 15.66% (599/3 826) were typhus. A total of 44 cases died in 6 years; the fatality rate was 1.15% (44/3 826). In the peak seasons of incidence from May to July, the cases in people engaged in agriculture related work accounted for 84.61% (3 237/3 826). The incidence rate in women was higher than that in men, and the cases aged ≥50 years accounted for 81.02% of the total (3 100/3 826), and the incidence rate increased with age (P<0.001). The TBID cases were distributed in 86 counties and districts in 16 prefectures (municipality). The incidence rates of different areas had significant differences (P<0.05), and there was a certain spatial-temporal clustering and expasion. Bovis microplus and Haemaphysalis longicornis were captured in the field, and the positive rates in host animals and grassland ticks were 10.94% (7/64) and 40.00% (2/5), respectively. Univariate logistic regression analysis results showed that age ≥50 years and leukocyte <2.0×109/L were risk factors for severe illness and death. Conclusions: The TBID reported in Hubei were mainly SFTS, tsutsugamushi disease and typhus. In order to reduce the incidence of TBID, it is necessary to strengthen the prevention and control in women aged ≥50 years and reduce field exposure and tick bites during the epidemic period.

[Prevalence, patterns and prognosis of multimorbidity among middle-aged and elderly inpatients with chronic obstructive pulmonary disease].

Objective: To explore the characteristics, patterns of multimorbidity and the impact on quality of life and the prognosis of middle-aged and elderly patients with chronic obstructive pulmonary disease (COPD). Methods: This is a cross-sectional study. From January 2012 to December 2021, 939 middle-aged and elderly COPD patients hospitalized in Beijing Hospital were selected by the convenient sampling method. The basic data of patients and the date of 16 common chronic diseases were collected. Patterns of multimorbidity were depicted by cluster analysis. Generalized linear regression model and logistic regression were used to evaluate the multimorbidity patterns and their prognosis. Results: At least one multimorbidity existed among 93.40% of COPD patients, and the median number of multimorbidity was 3. The top five multimorbidity among the patients were hypertension (57.93%, 544/939), coronary heart disease (33.76%,317/939), heart failure (31.95%,300/939), hyperlipidemia (31.63%,297/939) and arrhythmia (27.37%,257/939). Four multimorbidity patterns were identified, cardiometabolic and metabolic multimorbidity, kidney disease multimorbidity, respiratory-digestive-tumor multimorbidity and other multimorbidity. Cardiometabolic and metabolic multimorbidity was most common (590/939, 62.83%). Compared with non-cardiometabolic and metabolic multimorbidity, the incharge ADL score of patients with this multimorbidity decreased by 7 points (95%CI:-11.22- -3.34), Correspondingly, patients with kidney disease multimorbidity decreased by 14 points (95%CI:-24.12- -3.30) on the incharge score. The presence or absence of kidney disease multimorbidity had the greatest impact on discharge score, which was reduced by 12 points in comparison with patients without this multimorbidity (95%CI:-22.43- -2.40). ICU admission is mostly affected by the presence of cardiometabolic and metabolic multimorbidity (OR=2.44, 95%CI: 1.51-3.92) and kidney disease multimorbidity (OR=2.58, 95%CI: 1.01-6.60). The risk of death is the highest for cardiometabolic and metabolic multimorbidity (OR=2.24, 95%CI: 1.19-4.21). Conclusion: Multimorbidity is common in COPD patients. The most common pattern is cardiometabolic and metabolic multimorbidity. Cardiometabolic and metabolic multimorbidity and kidney disease multimorbidity significantly affect the quality of life and often associate with a poor prognosis.

[Exploring the teaching mode about clinical laboratory diagnostic pathway for chronic hepatitis B].

Exploring a new teaching mode of CHB laboratory diagnostics to improve the teaching quality through establishment a teaching model covered the whole process of CHB disease diagnosis and differential diagnosis, treatment, drug selection, the toxicity and side effects prediction, effect monitoring, and prognosis evaluation. According to the CHB clinical diagnosis and treatment guidelines, formulated the laboratory examination and detection strategies related to different stages of CHB, and established CHB clinical laboratory diagnostic pathway. Compared the classroom teaching effect by the questionnaire between the 2016 and 2017 eight-year undergraduates from the First Clinical College of Wuhan University. In this study,the CHB clinical laboratory diagnostic pathway was established and approved by clinicians, which covered the whole process of CHB disease diagnosis and differential diagnosis, treatment, drug selection, the toxicity and side effects prediction, effect monitoring, and prognosis evaluation. The teaching quality evaluation indicators and the scores on the class test had been greatly improved with the clinical diagnostic pathway teaching mode in the classroom teaching of 2017 clinical medicine undergraduates compared with the traditional teaching mode in the 2016 clinical medicine undergraduates. In summary, the medical students not only could realize the organic integration of laboratory diagnostics and clinical medicine, but also improves overall understanding of various laboratory tests in CHB diagnosis and treatment from the teaching model of laboratory diagnostics based on the CHB clinical laboratory diagnostic pathway,and the quality of teaching for CHB has been significantly improved.

[Electronic cigarette use-associated lung injury: a case report and literature review].

Objective: To improve the clinical recognition of electronic cigarette or vaping product use-associated lung injury. Methods: A 67 year old patient with lung injury induced by e-cigarette was reported. The concentrations of vitamin E acetate (VEA) and tetrahydrocannabinol (Δ9-THC) in BALF were measured by UHPLC-MS/MS. A literature review was performed with"Vaping-Associated Lung Injury""vape","e-cigarette","electronic cigarette","EVALI","electronic nicotine device","lung","injury","case"as Mesh terms in PubMed. Results: There were 208 cases reported in the literature, 71.6% of whom were male, and 28.4% were female, with a median age of 27 years (17-67 years), while 2 patients (1%) were over 60 years old. The median time of using e-cigarette was 90 days (2 weeks-3 years). Of the 208 patients, the most common symptoms were dyspnea, fever, chest pain, hemoptysis, and gastrointestinal symptoms such as nausea, abdominal pain or diarrhea. The most common manifestation of chest CT was bilateral ground glass opacity (n=119, 57.2%). A total of 70 patients received bronchoscopy and BALF, which showed that the ratio of macrophages was (49.5±29.8)%, neutrophil (34.7±28.7)%, lymphocytes (10.1±7.4)%, and eosinophils (2.4±3.6)%. The "foamy" alveolar macrophages were positive in 65 cases (92.9%).A total of 132 patients (63.5%) were treated with antibiotics, and 162 patients (77.9%) were treated with glucocorticoids. The initial dose of methylprednisolone was 40 mg and the maximum was 500 mg. 48 patients (23.1%) were mechanically ventilated and 10 patients (4.8%) were treated with extracorporeal membrane oxygenation (ECMO). Of the 208 patients, 202(97.1%) patients improved and 6 (2.9%) died. Conclusion: Our case and reported cases should alert physicians to the clinical presentation of vaping-associated lung injury for early diagnosis and prompt management. It is suggested that the standardized management of e-cigarette should be strengthened to avoid similar situation of e-cigarette-related lung injury in China. Additional work is needed to characterize the pathophysiology of this disease.

Prevalence of S282T mutation in different genotypes of hepatitis C virus from DAA-treated naïve Chinese patients who were chronically infected with HCV.

OBJECTIVE: Although direct-acting antiviral agents (DAAs) for treating hepatitis C virus (HCV) infection have not yet been approved for clinical application at present in China, the development trend is irresistible. DAAs-containing therapeutic regimens have been approved and others are also under development worldwide. In vitro studies have shown that S282T mutation in the NS5B region of HCV is involved in DAAs resistance. The aim of this study was to investigate naturally occurring resistance mutation of S282T in different genotypes of HCV from DAA-treated naïve Chinese patients who were chronically infected with HCV. PATIENTS AND METHODS: 250 Chinese patients chronically infected with HCV were enrolled in this study. All subjects were naïve to DAAs. Direct sequencing of HCV NS5B region was performed in all enrolled patients. RESULTS: 70.4% (176/250) cases were infected with HCV genotype 1b, 19.2% (47/250) were 2a, 4.0% (11/250) were 6a, 3.6% (10/250) were 3b, 1.6% (4/250) were 1a and 1.2% (3/250) were 3a. Genotype 4, 5 and 7 were not observed. The S282T mutation was not found in any of the cases. CONCLUSIONS: The results showed that the S282T mutation was not prevalent in DAA-treated naïve Chinese patients who were chronically infected with HCV.

Experimental investigation on dynamic characteristics and strengthening mechanism of laser-induced cavitation bubbles.

The dynamic features of nanosecond laser-induced cavitation bubbles near the light alloy boundary were investigated with the high-speed photography. The shock-waves and the dynamic characteristics of the cavitation bubbles generated by the laser were detected using the hydrophone. The dynamic features and strengthening mechanism of cavitation bubbles were studied. The strengthening mechanisms of cavitation bubble were discussed when the relative distance parameter γ was within the range of 0.5-2.5. It showed that the strengthening mechanisms caused by liquid jet or shock-waves depended on γ much. The research results provided a new strengthening method based on laser-induced cavitation shotless peening (CSP).

Accurate genotyping of hepatitis C virus through nucleotide sequencing and identification of new HCV subtypes in China population.

Nucleotide sequencing of the phylogenetically informative region of NS5B remains the gold standard for hepatitis C virus (HCV) genotyping. Here we developed a new methodology for sequencing new NS5B regions to increase the accuracy and sensitivity of HCV genotyping and subtyping. The eight new primers were identified by scanning the full-length NS5B regions from 1127 HCV genomic sequences found in HCV databases. The ability of each pair of primers to amplify HCV subtypes was scored, and the new primers were able to amplify the NS5B region better than the previously used primers, therefore more accurately subtyping HCV strains. Sequencing the DNA amplified by the new primer pairs can specifically and correctly detect the five standard HCV subtypes (1a, 2a, 3b, 6a and 1b). We further examined patient samples and found that the new primers were able to identify HCV subtypes in clinical samples with high sensitivity. This method was able to detect all subtypes of HCV in 567 clinical samples. Importantly, three novel HCV subtypes (1b-2a, 1b-2k and 6d-6k) were identified in the samples, which have not been previous reported in China. In conclusion, sequencing the NS5B region amplified by the new NS5B primers is a more reliable method of HCV genotyping and a more sensitive diagnostic tool than sequencing using the previously described primers, and could identify new HCV subtypes. Our research is useful for clinical diagnosis, guidance of clinical treatment, management of clinical patients, and studies on the epidemiology of HCV.

Association of variable number of tandem repeat polymorphism in the IL-4 gene with ischemic stroke in the Chinese Uyghur population.

Ischemic stroke (IS) is a multifactorial disorder, and genetic factors act as important contributors to its onset and progression. Inflammation is a key event that is closely associated with the pathophysiology of IS. The association of genetic polymorphisms of inflammatory cytokines with IS remains poorly understood. We investigated the relationship between the variable number of tandem repeats (VNTR) for IL-4, which is an important biomarker of inflammation, and the risk of IS. To assess the nature of the VNTR polymorphism in IL-4 and identify any links with IS, we recruited 200 subjects from a unique population that has 60% European and 40% East Asian ancestry. The subjects comprised 100 IS patients diagnosed using magnetic resonance imaging within 24 h of symptom onset and 100 age-, gender- and ethnicity-matched normal healthy controls. VNTR was identified using high-performance capillary electrophoresis with specially designed tailed primers. The IL-4 VNTR polymorphism was significantly associated with IS after adjustment for cardiovascular risk factors (OR = 0.571, 95%CI = 0.330-0.949, P < 0.05). Our data indicate that IL-4 VNTR polymorphism may affect susceptibility to IS in the Chinese Uyghur population. Moreover, total cholesterol, fasting blood glucose, waist-to-hip ratio, hypertension, history of heart diseases, and negative events may increase the risk of IS, with a trend for HDL to be a protective factor for IS in the Uyghur population.