[Research progress of the application of metagenomics technology in female reproductive tract diseases].

In recent years, many studies have found that vaginal microbiota is closely related to female reproductive tract diseases. However, traditional microbial culture technology has the defects of long culture cycle and most microorganisms cannot be cultured. The development of metagenomics technique has broken the limitations of culture technology, and has been gradually applied to the study of vaginal microorganisms with the characteristics of high throughput, short time, identification of microbial population structure and gene function. It also provides technical support for elucidating the relationship between vaginal microbiota and female reproductive tract diseases. This article mainly introduces the metagenomics techniques and their applications in prevention, screening and diagnosis of common female reproductive tract diseases, and discusses their promising development and limitations to be overcome.

[Clinical and molecular biological characterization of patients with accelerated chronic lymphocytic leukemia].

Objective: To investigate the clinical and molecular biological characteristics of patients with accelerated chronic lymphocytic leukemia (aCLL) . Methods: From January 2020 to October 2022, the data of 13 patients diagnosed with aCLL at The First Affiliated Hospital of Nanjing Medical University were retrospectively analyzed to explore the clinical and molecular biological characteristics of aCLL. Results: The median age of the patients was 54 (35-72) years. Prior to aCLL, five patients received no treatment for CLL/small lymphocytic lymphoma (SLL), while the other patients received treatment, predominantly with BTK inhibitors. The patients were diagnosed with aCLL through pathological confirmation upon disease progression. Six patients exhibited bulky disease (lesions with a maximum diameter ≥5 cm). Positron emission tomography (PET) -computed tomography (CT) images revealed metabolic heterogeneity, both between and within lesions, and the median maximum standardized uptake value (SUVmax) of the lesion with the most elevated metabolic activity was 6.96 (2.51-11.90). Patients with unmutated IGHV CLL accounted for 76.9% (10/13), and the most frequent genetic and molecular aberrations included +12 [3/7 (42.9% ) ], ATM mutation [6/12 (50% ) ], and NOTCH1 mutation [6/12 (50% ) ]. Twelve patients received subsequent treatment. The overall response rate was 91.7%, and the complete response rate was 58.3%. Five patients experienced disease progression, among which two patients developed Richter transformation. Patients with aCLL with KRAS mutation had worse progression-free survival (7.0 month vs 26.3 months, P=0.015) . Conclusion: Patients with aCLL exhibited a clinically aggressive course, often accompanied by unfavorable prognostic factors, including unmutated IGHV, +12, ATM mutation, and NOTCH1 mutation. Patients with CLL/SLL with clinical suspicion of disease progression, especially those with bulky disease and PET-CT SUVmax ≥5, should undergo biopsy at the site of highest metabolic uptake to establish a definitive pathological diagnosis.

[Predictive value of blood cell parameters in the diagnosis of vasovagal syncope in children].

Objective: To investigate the predictive value of blood cell parameters in children with vasovagal syncope (VVS). Methods: In this case-control study, the VVS group included 111 patients with unexplained syncope or prodromata who were diagnosed with VVS by head-up tilt test in the Second Xiangya Hospital, Central South University from January 2018 to October 2020, and 111 healthy children were enrolled as control. The differences in blood cell parameters between the 2 groups were compared by t test and Mann-Whitney U test. Multivariate binary Logistic regression was used to analyze the independent correlation factors of VVS, and receiver operating characteristic (ROC) curve to explore the predictive value of blood cell parameters for diagnosing VVS. Results: Sex composition ratios were consistent in the 2 groups (51 males vs. 60 females), while the age of the VVS group was higher than that of the control group (11.0 (8.0, 12.5) vs. 8.0 (7.0, 11.0) years, Z=4.39, P<0.001). Compared with the control group, VVS group had lower level of white blood cell (WBC) (6.0 (5.3, 7.1)×109 vs. 8.6 (6.7, 10.1)×109/L, Z=-7.96, P<0.001), lymphocyte (LY) (2.3 (1.9, 2.7)×109 vs. 4.0 (2.8, 6.3)×109/L, Z=-8.49, P<0.001), lymphocyte ratio (0.39 (0.33, 0.44) vs. 0.52 (0.37, 0.69), Z=-5.59, P<0.001), monocyte (0.3 (0.3, 0.4)×109 vs. 0.4 (0.3, 0.6)×109/L, Z=-6.19, P<0.001), eosinophil (0.1 (0.1, 0.2)×109 vs. 0.2 (0.2, 0.4)×109/L, Z=-5.75, P<0.001), mean corpuscular-hemoglobin concentration (MCHC) ((328±12) vs. (333±11) g/L, t=-3.27, P<0.001) and blood platelet (263 (235, 313)×109 vs. 341 (295, 409)×109/L, Z=-2.69, P<0.001), but higher neutrophil ratio (0.53 (0.48, 0.58) vs. 0.37 (0.22, 0.54), Z=5.86, P<0.001), hematocrit (0.39±0.04 vs. 0.37±0.04, t=2.75, P=0.006), mean corpuscular volume (MCV) (85 (82, 88) vs. 81 (78, 84) fl, Z=5.56, P<0.001), mean corpuscular hemoglobin (28 (27, 29) vs. 27 (26, 28) pg, Z=3.39, P=0.001), red cell distribution width (39 (37, 41) vs. 37 (36, 40) fl, Z=4.02, P<0.001) and mean platelet volume (11 (10, 11) vs. 10 (9, 11) fl, Z=2.81, P=0.005) levels. After adjusting for confounding factors such as sex and age, LY (OR=0.42, 95%CI 0.29-0.62, P<0.001), WBC (OR=0.75, 95%CI 0.59-0.95, P=0.015), MCHC (OR=0.94, 95%CI 0.91-0.97, P<0.001) were independent negative correlation factors of VVS, while MCV (OR=1.08, 95%CI 1.01-1.15, P=0.021) was independent positive correlation factor. ROC curve showed that the combination of LY, WBC, MCV and MCHC had acceptable predictive value for the diagnosis of VVS, with area under curve of 0.88, sensitivity of 0.80, specificity of 0.83, and Youden index of 0.63. Conclusions: Compared with healthy children, the blood cell parameters usually change in those with VVS. Combination of LY, WBC, MCHC and MCV can facilitate the diagnosis of VVS in children with unexplained syncope or prodromata.

[Analysis of discordance between HbA1c and FPG criteria for dysglycemia screening in physical examination individuals].

The general data, blood routine, liver and kidney function, glucose metabolism and lipid metabolism of 11 922 participants who underwent physical examination at the Health Management Center of the Second Xiangya Hospital of Central South University from January 2019 to December 2019 were collected. Clinical characteristics and independent factors of patients with discordance between HbA1c and FPG were evaluated and analyzed. The prevalence of HbA1c-defined diabetes and prediabetes (respectively 8.13%, 34.79%) were significantly higher than that in FPG-defined diabetes and prediabetes (respectively 4.70%, 8.97%) (χ²=2 635.940;P<0.001). The prevalence of inconsistence between HbA1c and FPG was 35.65% and increased with increasing age. This inconsistence mainly occurred in population with HbA1c:5.7%-6.0% and FPG<5.6 mmol/L, followed by population with HbA1c:6.1%-6.4% and FPG<5.6 mmol/L. The risk factors of inconsistency included advanced age, overweight or obesity, hypoalbuminemia, dyslipidemia and hyperuricemia. Among these special participants, compared with participants under 45 years old, participants with over 45 years of age (OR=3.525, 95%CI: 3.216-3.863, P<0.001) were more likely to have inconsistence between HbA1c and FPG; and overweight participants (OR=1.474, 95%CI: 1.341-1.620, P<0.001) or obese participants (OR=1.856, 95%CI: 1.633-2.110, P<0.001) are prone to have the inconsistence than those with normal weight.

Evaluation of family-centred practices in the early intervention programmes for infants and young children in Singapore with Measure of Processes of Care for Service Providers and Measure of Beliefs about Participation in Family-Centred Service.

BACKGROUND: The primary purpose of this study was to report on an evaluation of the perceptions and beliefs of service providers towards family-centred practices in 11 early intervention programmes for infants and young children in Singapore. METHODS: The Measure of Processes of Care for Service Providers (MPOC-SP) and Measure of Beliefs about Participation in Family-Centred Service (MBP-FCS) were administered to 213 service providers made up of teachers, therapists, psychologists and social workers providing centre-based therapy to children with special needs who were below the age of 6 years. RESULTS: Exploratory factor analyses were performed with both scales. Nineteen of the 27 MPOC-SP items were retained and supported the original four-factor structure model. The exploratory factor analyses on MBP-FCS provided a less satisfactory outcome. Fourteen of the 28 items were retained and these loaded onto four factors. The two factors relating to Beliefs about benefits of FCS and Beliefs about the absence of negative outcomes from FCS failed to emerge as separate factors. Further multiple regressions indicated that more direct work with families and positive self-efficacy in implementing FCS contributed significantly to explaining service providers' positive perception towards family-centred practice in service delivery. CONCLUSIONS: This is the first time MPOC-SP and MBP-FCS were administered to a population in an Asian context. While MBP-FCS would benefit from further development work on its construct, MPOC-SP offered important insights into service providers' perspectives about family-centred practices that would have useful implications for professional and service development.