Lianyungang Maternal and Children’s Hospital

This study aimed to evaluated the clinical utility of an integrated prenatal screening strategy combining non-invasive prenatal testing (NIPT) and maternal serum unconjugated estriol (uE3) quantification for detecting X-linked ichthyosis (XLI) in male fetuses. Within a retrospective cohort of 95,485 screened pregnancies, 147 cases exhibiting low second-trimester uE3 levels (Multiple of the Median, MoM ≤ 0.3) were identified. Participants were stratified based on uE3 MoM values into Group 1 (uE3≤0.1) and Group 2 (0.1<uE3≤0.3). NIPT was performed in 41 cases to detect maternal Xp22.31 microdeletions encompassing the STS gene. Fetal genotypes were verified via chromosomal microarray analysis (CMA) of amniotic fluid in cases opting for invasive prenatal diagnosis. For those without prenatal diagnosis, verification was conducted by STS-specific PCR using newborn heel blood samples. The incidence of confirmed XLI was significantly higher in Group 1 (49.3%, 35/71) than in Group 2 (1.3%, 1/76). Among the 41 cases that underwent NIPT, maternal Xp22.31 deletions were detected in 28 cases. When this deletion combined with an extremely low maternal serum uE3 level (MoM ≤ 0.3), the positive predictive value for XLI reached 100%, which was markedly higher than that of NIPT alone (theoretical ∼50% PPV) or uE3 screening alone (49.3% PPV). Integrating NIPT-based maternal CNV detection with maternal serum uE3 quantification significantly improves the accuracy of prenatal XLI screening. This combined approach is most clinically actionable in a specific scenario: a male fetus presenting with normal ultrasound findings, extremely low maternal uE3, and a positive family history of isolated XLI without comorbidities.

Chronic obstructive pulmonary disease (COPD) is highly prevalent in later life and is a major driver of long-term care needs among older adults. In ageing societies, care for older adults with COPD is predominantly provided by spousal caregivers, many of whom are older adults themselves. This situation reflects a context of dual ageing, in which both the care recipient and the caregiver experience age-related vulnerabilities. Despite growing global efforts to promote age-friendly health and social care environments, the unmet needs of older spousal caregivers remain poorly synthesised and are often insufficiently addressed within existing geriatric care models. This scoping review aimed to map and synthesise evidence on the unmet needs of older spousal caregivers of older adults with COPD, with a specific focus on how these needs are shaped within a context of dual ageing. Following Arksey and O’Malley’s framework, we conducted a scoping review of qualitative, quantitative, and mixed-methods studies examining unmet needs among older spousal caregivers of older adults with COPD. A comprehensive search was performed across ten English- and Chinese-language databases, last searched on 30 August 2025. Data were charted and synthesised using a narrative approach, with unmet needs mapped using the International Classification of Functioning, Disability and Health (ICF) framework. Eighteen studies were included. Older spousal caregivers reported multidimensional unmet needs, including psychological and emotional support, role balance, communication with healthcare professionals, information and caregiving skills, gender-specific concerns, and systemic and social support. These needs clustered into six categories across four ICF domains and were shaped by the combined effects of caregiving demands, ageing-related vulnerabilities, and long-term spousal interdependence. Older spousal caregivers of older adults with COPD experience multidimensional unmet needs that are shaped by the context of dual ageing and extend beyond individual caregiving burden to system-level gaps in care. These findings highlight the need for caregiver-inclusive and age-sensitive approaches within age-friendly health and social care environments. The review protocol was registered on the Open Science Framework (OSF) (https://doi.org/10.17605/OSF.IO/RYF3C).

Quality control (QC) is critical for ensuring the accuracy and reliability of hematology testing. Traditional QC strategies, however, are often limited in their ability to provide timely detection of analytical errors and to adapt to complex, real-world laboratory conditions. In this multicenter study, we applied the Six Sigma quality management framework to systematically evaluate the performance of five hematology parameters (Hb, WBC, RBC, HCT, and PLT). To enhance QC monitoring, we established a dynamic quality control strategy that integrates moving average (MA) monitoring with a long short-term memory (LSTM) predictive model. Patient sample data were incorporated alongside routine QC data to validate clinical adaptability. Sigma metrics revealed marked performance differences among the parameters, with Hb and WBC achieving world-class or excellent performance (σ ≥ 6), while PLT showed relatively lower stability. The combined MA-LSTM approach significantly improved sensitivity for error detection while reducing false positives compared with conventional rule-based QC. The dynamic model demonstrated robust predictive ability, enabling real-time QC monitoring across multiple laboratory sites. By combining Six Sigma evaluation, MA monitoring, and LSTM modeling, we propose a dynamic QC strategy that overcomes key limitations of conventional quality control methods. This approach provides laboratories with an intelligent, proactive, and clinically adaptable solution for improving the reliability of hematology testing and ensuring higher quality patient care.

PurposeTo compare the medical accuracy and content comprehensiveness of three large language models (LLMs) in generating responses to frequently asked osteoporosis-related questions and to determine their potential role in clinical support.MethodsTwenty-five questions covering six clinical domains were submitted to each model in isolated sessions. Five senior orthopedic physicians, each with over 25 years of clinical experience, independently rated the medical accuracy of each response using a 5-point Likert scale. Responses rated as “acceptable” or above were further evaluated for content comprehensiveness. Statistical analysis included the Kruskal–Wallis test and Dunn’s post hoc test with Bonferroni correction.ResultsA total of 75 unique responses (25 questions × 3 models) were evaluated by five orthopedic experts, yielding 375 ratings. ChatGPT-4o achieved the highest accuracy score (median: 4.6; IQR: 4.4–4.8), significantly outperforming Gemini-2.5 Pro (p=0.039) and DeepSeek-R1 (p<0.001). For content comprehensiveness, both ChatGPT-4o and Gemini-2.5 Pro had a median score of 4.4, higher than DeepSeek-R1 (median: 4.2), though differences did not reach statistical significance (p=0.0536). Gemini-2.5 Pro was noted for its fluent and user-friendly language but lacked clinical depth in some responses. DeepSeek-R1, despite offering source citations, demonstrated greater inconsistency.ConclusionLLMs have clear potential as tools for patient education in osteoporosis. ChatGPT-4o demonstrated the most balanced and clinically reliable performance. Nonetheless, expert medical oversight remains essential to ensure safe and context-appropriate use in healthcare settings.

BACKGROUNDThis study analyzed the dental follicle and alveolar bone of two patients with tooth eruption disorders, aiming to provide some reference for exploring the etiology and selecting treatment plans of this disease from the perspective of the influence of extracellular matrix on osteoclasts differentiation in dental follicle.CASE SUMMARYCollect dental follicle and alveolar bone tissue from one patient with single tooth eruption disorder and one patient with full permanent tooth eruption disorder, respectively. Simultaneously collect the dental follicle and alveolar bone tissue of obstructed teeth that need to be extracted due to orthodontic treatment as the control group. Hematoxylin and eosin (HE) staining was used to observe the morphology of dental follicle cells. Immunohistochemical staining was used to observe the expression of periostin, receptor activator of nuclear factor kappa B ligand (RANKL), and osteoprotegerin (OPG) protein in dental follicle and alveolar bone tissue. And observe the eruption of teeth after removing resistance from the crown of the permanent tooth germ.CONCLUSIONHE staining of two cases of dental follicle tissues showed that the volume of dental follicle cells decreased, the nuclei were condensed, and there seemed to be cellular fibrosis. The immunohistochemical staining showed that both the dental follicle and alveolar bone tissue exhibited increased expression of periostin, decreased expression of RANKL and OPG proteins, and decreased RANKL/OPG ratio. After removing resistance, the permanent tooth germ often appears to have normal eruption. Tooth eruption disorders may be accompanied by abnormal remodeling of periostin, which affects the differentiation function of osteoclasts in the dental follicle and leads to metabolic imbalance of alveolar bone, resulting in tooth eruption disorders. Whether it is a single or full permanent tooth eruption disorder, once the coronal resistance is removed, the teeth can often erupt normally.

From January to April 2020, the COVID-19 pandemic affected eastern China, leading medical students to adopt home protection measures that significantly altered their physical activity and lifestyle habits. This study aimed to assess the prevalence of musculoskeletal pain (MSP) among medical students during home protection and to analyze the influence of demographic factors, physical exercise habits during normal school life, home protection data on MSP. This research provides a foundation for developing interventions to reduce MSP among medical students. A cross-sectional survey was conducted at Nanjing Medical University in Jiangsu Province from January to April 2020, utilizing the Nordic Musculoskeletal Questionnaire (NMQ) to measure MSP. Multivariate logistic regression identified factors influencing MSP. A total of 859 students participated, with a 40.2% prevalence of MSP during home protection. Multivariate analysis showed that female sex (OR: 1.648; 95% CI: 1.157-2.347), irregular physical exercise during school (OR: 1.648; 95% CI: 1.157-2.347), and less than or equal to six hours of sleep per day during home protection (OR: 1.474; 95% CI: 1.020-2.131) were significant risk factors. The high prevalence of MSP underscores the need for interventions that focus on gender-specific risks, promote regular physical exercise, and ensure adequate sleep.

According to clinical evidence, type 2 diabetes mellitus (T2D) and osteomyelitis (OM) are currently the 2 major causes of mortality and morbidity in humans. Despite accounts of their coexistence, there is still no understanding of their fundamental connection. We attempted to assess the causal effect of T2D on OM using the two-sample Mendelian randomization method. The whole gene-wide association study's aggregate data were examined. Single-nucleotide polymorphisms, which have a substantial correlation with T2D, were used as instrumental variables in a two-sample Mendelian randomization (MR) analysis to assess the causal relationship between T2D and OM risk using the inverse variance weighting, MR-egger regression, and weighted median approaches, respectively. A total of 114 single-nucleotide polymorphism were used as instrumental variables in this analysis. The inverse variance-weighted analysis showed a significant causal relationship between T2D and OM, indicating that T2D has a detrimental effect on OM risk. The odds ratio for the causal effect of T2D on OM was 1.317, with a 95% confidence interval of (1.140, 1.522) (P < .001). To assess heterogeneity, Cochran Q test statistics and MR-Egger regression were applied in the inverse variance-weighted technique. The P-value of .737 indicated a considerable level of heterogeneity was not absent in the data. This study used Mendelian randomization analysis to establish a causal relationship between T2D and OM. The findings suggest that T2D may increase the risk of OM.

BackgroundNephrotic syndrome (NS) can occur as a paraneoplastic disorder in association with various types of carcinoma. However, paraneoplastic nephrotic syndrome (PNS) is often misdiagnosed as idiopathic nephrotic syndrome or as an adverse effect of oncology treatment, leading to delayed diagnosis and suboptimal treatment. The characteristics of NS associated with solid malignancies are not yet elucidated. We systematically summarized the clinical data for 128 cases of NS combined with solid malignancies with the aim of informing the clinical management of PNS.MethodsWe searched the PubMed database for articles published from the date of inception through to October 2023 using the following keywords: “cancer” or “malignant neoplasms” or “neoplasia” or “tumors” and “nephrotic syndrome”, “nephrotic” or “syndrome, nephrotic”. All data were extracted from case reports and case series, and the extraction included a method for identifying individual-level patient data.ResultsA literature search yielded 105 cases of PNS and 23 of NS induced by cancer therapy. The median age at diagnosis was 60 years, with a male to female ratio of 1.8:1. In patients with PNS, manifestations of NS occurred before, concomitantly with, or after diagnosis of the tumor (in 36%, 30%, and 34% of cases, respectively). Membranous nephropathy (49%) was the most prevalent renal pathology and found particularly in patients with lung, colorectal, or breast carcinoma. Regardless of whether treatment was for cancer alone or in combination with NS, the likelihood of remission was high.ConclusionThe pathological type of NS may be associated with specific malignancies in patients with PNS. Prompt identification of PNS coupled with suitable therapeutic intervention has a significant impact on the outcome for patients.

ABSTRACTObjective:This study aims to explore the relationship between different endometrial preparations and pregnancy outcomes among patients with regular ovulatory cycles in order to find the best endometrial preparation methods in the freeze–thaw embryo transfer (FET) cycle.Materials and Methods:This is a retrospective study to investigate FET pregnancy outcomes in women who had a regular menstrual cycle, were younger than 35 years old, and underwent a modified natural cycle (mNC), ovulation induction (OI), or a hormone replacement treatment (HRT) cycle. A total of 1071 frozen cycles were included for analysis.Results:The implantation rate and live birth rate (LBR) in the OI group show a significant difference when compared to the mNC and HRT groups (P < 0.01). After adjusting for confounding factors, the logistic regression analysis revealed that the number of embryos transferred, the embryo stage, and quality were significantly associated with clinical pregnancy rate and LBR. The LBR was additionally affected by the mode of the endometrial preparation; the OI cycle could increase LBR.Conclusions:Endometrial preparation methods affect the LBR in women with a regular menstrual cycle. The OI cycle had an advantage in the LBR of FET.