OBJECTIVE: To investigate the detection patterns, clinical phenotypic characteristics, and differences in diagnostic timeliness of Klinefelter syndrome (KS) across prenatal and postnatal stages, with an aim to provide a basis for optimizing strategies for early screening, diagnosis, and intervention. METHODS: A retrospective study was conducted to analyze data from two phases. The prenatal diagnosis group included 33,302 pregnant women who underwent amniocytic karyotyping due to advanced maternal age, abnormal ultrasound findings, or high-risk non-invasive prenatal testing (NIPT). The postnatal diagnosis group included 52,101 patients who underwent peripheral blood karyotyping due to primary infertility, abnormal external genitalia, or growth and developmental abnormalities. Additionally, medical histories of adult diagnosed patients were reviewed retrospectively to identify early occult symptoms. This study was approved by the Medical Ethics Committee of Chengdu Women's and Children's Central Hospital (Ethics No.: LCYJ-2025-030). RESULTS: In the prenatal group, 96 cases of KS were detected (detection rate 0.29%). The primary indications for referral were NIPT indicating sex chromosome abnormalities (45.83%), advanced maternal age (16.66%), and ultrasound abnormalities (17.70%). In the postnatal group, 128 cases of KS were detected (detection rate 0.25%). Clinical presentations were primarily primary infertility/azoospermia (77.34%), and the patients were predominantly adults (84.40%). Retrospective analysis revealed that adult patients presented with specific physical signs that had been overlooked during childhood. CONCLUSION As KS lacks typical early clinical manifestations, diagnosis is often delayed until adulthood when reproductive needs arise, showing a pattern of "passive detection" and resulting in missed opportunities for optimal intervention. By conducting a comparative analysis of prenatal diagnostic data and postnatal retrospective data, a risk association model linking prenatal screening indications with childhood-specific signs was developed. This study has provided empirical evidence for establishing a multidisciplinary, full life-cycle management system of "screening ~ diagnosis ~ monitoring ~ intervention" helping to shift from "passive detection in adulthood" to "proactive management across the entire life course," and laid a foundation for improving early diagnosis rate and long-term quality of life for patients.
Humans ; Klinefelter Syndrome/genetics* ; Female ; Adult ; Pregnancy ; Retrospective Studies ; Prenatal Diagnosis/methods* ; Male ; Phenotype ; Karyotyping ; Young Adult ; Adolescent ; Middle Aged

OBJECTIVE To comprehensively evaluate the 16 commonly used kinds of enteral nutrition preparations in Hebei province， aiming to provide a reference for the selection of drugs in medical institutions and clinical drug decision-making. METHODS Based on the Quick Guide for Drug Evaluation and Selection in Chinese Medical Institutions （the Second Edition）， evaluation evidence was collected， and the included drugs were scored and evaluated from four dimensions of pharmaceutical characteristics， clinical characteristics， economy and other attributes. RESULTS & CONCLUSIONS The scores for Enteral nutritional emulsion （TPF-T）， Enteral nutritional emulsion （TPF-D）， Enteral nutritional emulsion （TPF）， Enteral nutritional emulsion （TPF-HE）， Enteral nutritional emulsion （TP）， Enteral nutritional emulsion （SP）， Enteral nutritional suspension （TPF） （1.5 kcal/mL， 1 kcal＝4.184 kJ）， Enteral nutritional suspension （TPF） （1.0 kcal/mL）， Intact protein enteral nutrition （powder）， Enteral nutritional suspension （TPF-DM）， Enteral nutritional suspension （TPF-MCT）， Enteral nutritional suspension （SP）， Short- peptide enteral nutrition， Enteral nutritional powder （TP）， Enteral nutritional suspension （TPF-D） and Enteral nutritional suspension （TPF-FOS） were 82.9， 84.1， 84.1， 86.1， 78.4， 79.1， 82.6， 82.3， 82.4， 80.2， 83.0， 82.4， 82.1， 85.7， 76.0， 82.4 points， respectively. All medications scored above 70 points. In practice， appropriate drugs can be selected according to clinical requirements and patient needs.

Background The prevalence of hyperuricemia (HUA) among Chinese residents has been increasing annually, with occupational populations facing a higher risk of HUA due to shift work or obesity. Objective To investigate the impact of shift work and obesity on HUA among coal miners, and to provide scientific data for the prevention of HUA in this occupational group. Methods A cross-sectional study was conducted with 25619 workers from a coal mining group in 2023 as the study population, using a questionnaire survey and occupational health check-ups. Workers who were retired or on medical leave, as well as those who provided incomplete responses to the questionnaire or did not complete anthropometric measurements or blood tests, were excluded. A total of 23173 participants were included in the study. An unconditional logistic regression model was used to analyze the association between HUA and selected factors such as shift work status, years of shift work, daily shift work hours, body mass index (BMI), waist-to-height ratio (WHtR), and visceral adiposity index (VAI), as well as the interaction between obesity and shift work on HUA. Restricted cubic spline functions were used to analyze the dose-response relationship between years of shift work, daily shift work hours, and HUA. Results The average age of the included workers was (42.38 ± 9.82) years. A total of 6735 workers reported positive HUA, with a positive rate of 29.1%, and the prevalence was higher in men compared to women (31.8% vs. 13.9%). After adjusting for confounding factors, the restricted cubic spline model revealed a nonlinear dose-response relationship between years of shift work, daily shift work duration, and HUA: ① When the years of shift work exceeded 3.25 years, the risk of HUA in workers gradually increased with longer work duration. At 20 years of shift work, the risk increase showed a "saturation effect," meaning that the risk of HUA no longer increased with additional years of shift work. ② When daily shift work duration was below 10 h, the risk of HUA increased with the length of shift work, but after exceeding 10 h, the risk stabilized. After adjusting for confounding factors, the logistic regression model showed that, compared to non-shift workers, shift workers, those with 10-20 years and over 20 years of shift work experience, as well as those working less than 8 h and more than 8 h per day, had a higher risk of HUA, with odds ratios (OR) of 1.14 (95%CI: 1.06, 1.22), 2.42 (95%CI: 2.20, 2.67), 2.23 (95%CI: 2.00, 2.48), 1.41 (95%CI: 1.29, 1.54), and 1.90 (95%CI: 1.75, 2.06), respectively. Additionally, compared to individuals with normal obesity indices, those with overweight and obesity based on BMI, high and very high VAI and excessive WHtR had a higher risk of HUA, with ORs of 2.01 (95%CI: 1.85, 2.17), 3.51 (95%CI: 3.20, 3.84), 1.42 (95%CI: 1.32, 1.54), 2.10 (95%CI: 1.91, 2.30), and 1.82 (95%CI: 1.69, 1.97), respectively. The interaction analysis showed no interaction between shift work and obesity index (both P_s < 0.001). Conclusion Shift work, longer shift work years, and longer daily shift work hours increase the risk of HUA among coal miners. Additionally, the role of obesity in the development of HUA cannot be ignored.

Background In recent years, the detection rate of thyroid nodules in China's occupational population has shown an upward trend. The prevalence of this disease needs to be taken seriously and targeted measures should be taken to address its influencing factors. Objective To analyze the detection and influencing factors of thyroid nodules among adult male workers in coal mining enterprises in Shanxi Province, and provide a theoretical basis for the prevention of thyroid nodules. Methods A total of 5195 adult male workers from coal mining enterprises who ordered physical examination provided by the Xishan Coal Electricity (Group) Corporation Occupational Disease Prevention and Control Institute in Taiyuan City, Shanxi Province from May 2023 to December 2023 were selected as research subjects. A questionnaire survey, physical examination, ultrasound examination, and biological sample collection and testing were conducted. Thyroid nodules were diagnosed based on ultrasound results, classified and evaluated according to the Chinese-Thyroid Imaging Reporting and Data System (C-TIRADS), and the crude detection rate and standardized detection rate of thyroid nodules in adult male coal mine workers in Shanxi Province wereestimated. Occupational history and occupational exposure information were retrieved from their annual occupational health examination reports provided by the employer. Logistic regression modeling was used to analyze the influencing factors of thyroid nodule. Results A total of 1688 cases of thyroid nodules were detected, with a crude detection rate of 32.49% and an age-standardized detection rate of 31.17%. The cases (constitution ratio) of thyroid nodules by category in the detected cases was as follows: 358 cases (21.21%) were classified as category 2, 1261 cases (74.70%) as category 3, 67 cases (3.97%) as category 4a, and 2 cases (0.12%) as category 4b. The results of logistic regression showed that the duration of exposure to occupational hazards for 11-20 years, 21-30 years, ≥31 years, average monthly working>26 days, and shift work were positively correlated with the detection of thyroid nodules (P<0.05), and the associated ORs (95%CIs) were 1.29 (1.01, 1.65), 1.55 (1.20, 1.99), 1.68 (1.26, 2.55), 1.19 (1.00, 1.40), and 1.15 (1.02, 1.29), respectively. Conclusion The duration of exposure to occupational hazards, average monthly working days, and shift work are influencing factors of thyroid nodules. Intervention measures should be developed based on these influencing factors to prevent the occurrence of thyroid nodules.

Zebrafish larvae are useful for identifying chemicals against lateral line (LL) hair cell (HC) damage and this type of chemical screen mainly focuses on searching for protectors against cell death. To expand the candidate pool of HC protectors, a self-built acoustic escape response (AER)-detecting system was developed to apply both low-frequency near-field sound transmission and AER image acquisition/processing modules. The device quickly confirmed the changed LL HC functions caused by most known ototoxins, protectors, and neural transmission modifiers, or knockdown of LL HC-expressing genes. With ten devices wired in tandem, five 'hit' chemicals were identified from 124 cyclin-dependent kinase inhibitors to partially restore cisplatin-damaged AER in less than a day. AS2863619, ribociclib, and SU9516 among the hits, protected the HCs in the mouse cochlea. Therefore, using free-swimming larval zebrafish, the self-made AER-detecting device can efficiently identify compounds that are protective against HC damage, including cell death and loss-of-function.
Animals ; Zebrafish ; Hair Cells, Auditory/physiology* ; Lateral Line System/cytology* ; Escape Reaction/physiology* ; Larva ; Mice ; Cisplatin/toxicity* ; Drug Evaluation, Preclinical/methods*

Digital technologies have become an integral part of complete denture restoration. With advancement in computer-aided design and computer-aided manufacturing (CAD/CAM), tools such as intraoral scanning, facial scanning, 3D printing, and numerical control machining are reshaping the workflow of complete denture restoration. Unlike conventional methods that rely heavily on clinical experience and manual techniques, digital technologies offer greater precision, predictability, and efficacy. They also streamline the process by reducing the number of patient visits and improving overall comfort. Despite these improvements, the clinical application of digital complete denture restoration still faces challenges that require further standardization. The major issues include appropriate case selection, establishing consistent digital workflows, and evaluating long-term outcomes. To address these challenges and provide clinical guidance for practitioners, this expert consensus outlines the principles, advantages, and limitations of digital complete denture technology. The aim of this review was to offer practical recommendations on indications, clinical procedures and precautions, evaluation metrics, and outcome assessment to support digital restoration of complete denture in clinical practice.
Humans ; Denture, Complete ; Computer-Aided Design ; Denture Design/methods* ; Consensus ; Printing, Three-Dimensional

AIM: To evaluate the pathogenic variants of the SCO2(OMIM 604272)gene in patients with high myopia from Enshi Tujia and Miao Autonomous Prefecture of China.METHODS: A total of 384 patients with high myopia whose spherical refractive error was ≤ -6.00 D and whose axial length was ≥26.00 mm in at least one eye were recruited. DNA was extracted by the phenol-chloroform method from 5 mL of peripheral venous blood. Sanger sequencing was performed to identify pathogenic variants in exon 2 of SCO2. The detected variants were evaluated via in silico prediction software. A total of 288 people from the same district were included as the normal control cohort.RESULTS: Seven variants were detected, namely, four synonymous variants(c.201C>T/p.=, c.576C>T/p.=, c.633A>C/p.=, c.780T>C/p.=.), two missense variants(c.187A>G/p.Ile63Val, c.59G>C/p.Arg20Pro)and one nonsense variant(c.544C>T/p.Gln182*). The two missense variants were not damaging, as predicted by PolyPhen2, SIFT and Provean. The novel nonsense variant(c.544C>T/p.Gln182*)cannot be found in the 1000 Genomes Project and was not identified in 288 normal controls. Variant Taster suggested that the nonsense variant site was conserved.CONCLUSION: The newly identified nonsense mutation may be responsible for high myopia of the patients in our cohort. SCO2 is associated with high myopia, while the incidence of SCO2 variants in high myopia in this cohort was as low as 1/384; the nonsense mutation may be a scarce variant of high myopia in the Enshi Tujia and Miao Autonomous Prefecture of China.

OBJECTIVE: To explore the effect of chitosan (CS) hydrogel loaded with tendon-derived stem cells (TDSCs; hereinafter referred to as TDSCs/CS hydrogel) on tendon-to-bone healing after rotator cuff repair in rabbits. METHODS: TDSCs were isolated from the rotator cuff tissue of 3 adult New Zealand white rabbits by Henderson step-by-step enzymatic digestion method and identified by multidirectional differentiation and flow cytometry. The 3rd generation TDSCs were encapsulated in CS to construct TDSCs/CS hydrogel. The cell counting kit 8 (CCK-8) assay was used to detect the proliferation of TDSCs in the hydrogel after 1-5 days of culture in vitro, and cell compatibility of TDSCs/CS hydrogel was evaluated by using TDSCs alone as control. Another 36 adult New Zealand white rabbits were randomly divided into 3 groups ( n=12): rotator cuff repair group (control group), rotator cuff repair+CS hydrogel injection group (CS group), and rotator cuff repair+TDSCs/CS hydrogel injection group (TDSCs/CS group). After establishing the rotator cuff repair models, the corresponding hydrogel was injected into the tendon-to-bone interface in the CS group and TDSCs/CS group, and no other treatment was performed in the control group. The general condition of the animals was observed after operation. At 4 and 8 weeks, real-time quantitative PCR (qPCR) was used to detect the relative expressions of tendon forming related genes (tenomodulin, scleraxis), chondrogenesis related genes (aggrecan, sex determining region Y-related high mobility group-box gene 9), and osteogenesis related genes (alkaline phosphatase, Runt-related transcription factor 2) at the tendon-to-bone interface. At 8 weeks, HE and Masson staining were used to observe the histological changes, and the biomechanical test was used to evaluate the ultimate load and the failure site of the repaired rotator cuff to evaluate the tendon-to-bone healing and biomechanical properties. RESULTS: CCK-8 assay showed that the CS hydrogel could promote the proliferation of TDSCs ( P<0.05). qPCR results showed that the expressions of tendon-to-bone interface related genes were significantly higher in the TDSCs/CS group than in the CS group and control group at 4 and 8 weeks after operation ( P<0.05). Moreover, the expressions of tendon-to-bone interface related genes at 8 weeks after operation were significantly higher than those at 4 weeks after operation in the TDSCs/CS group ( P<0.05). Histological staining showed the clear cartilage tissue and dense and orderly collagen formation at the tendon-to-bone interface in the TDSCs/CS group. The results of semi-quantitative analysis showed that compared with the control group, the number of cells, the proportion of collagen fiber orientation, and the histological score in the TDSCs/CS group increased, the vascularity decreased, showing significant differences ( P<0.05); compared with the CS group, the proportion of collagen fiber orientation and the histological score in the TDSCs/CS group significantly increased ( P<0.05), while there was no significant difference in the number of cells and vascularity ( P>0.05). All samples in biomechanical testing failed at the repair site during the testing process. The ultimate load of the TDSCs/CS group was significantly higher than that of the control group ( P<0.05), but there was no significant difference compared to the CS group ( P>0.05). CONCLUSION TDSCs/CS hydrogel can induce cartilage regeneration to promote rotator cuff tendon-to-bone healing.
Rabbits ; Animals ; Rotator Cuff/surgery* ; Chitosan ; Hydrogels ; Rotator Cuff Injuries/surgery* ; Wound Healing ; Tendons/surgery* ; Collagen ; Stem Cells ; Biomechanical Phenomena

Objective To analyze the independent factors impacting the in-hospital prognosis of patients with septic shock,and to construct a simplified scoring system and evaluate its predictive value.Methods A retrospective analysis was carried out on 247 patients with septic shock admitted to the People's Hospital of Xinjiang Uygur Autonomous Region from January 2021 to July 2022,among whom 122 patients survived and 125 died.Univariate analysis and multivariate Cox proportional hazard regression model were used to screen the independent factors affecting in-hospital mortality of septic shock patients.The best cut-off value was ob-tained by using the receiver operating characteristics(ROC)curve,and the continuous variables were conver-ted into binary variables and assigned.Finally,a simplified scoring system was established,and its predictive efficacy for hospital death in septic shock patients was verified.Results The results of multivariate Cox pro-portional hazard regression model showed that the Glasgow coma scale(GCS)score(HR=0.929,95%CI:0.875-0.985,P=0.014),quick sequential organ failure assessment(qSOFA)score(HR=1.475,95%CI:1.094-1.989,P=0.011),lactate level(HR=1.096,95%CI:1.049-1.145,P<0.001),procalcitonin level(HR=1.009,95%CI:1.000-1.018,P=0.048),and albumin level(HR=0.958,95%CI:0.922-0.996,P=0.029)were identified as independent influencing factors for in-hospital mortality in patients with septic shock.The ROC curve showed that the simplified scoring system,based on GCS score,qSOFA score,lactate,procalcitonin,and albumin levels,exhibited an area under the curve and 95%CI of 0.866(0.822-0.910),with an optimal cutoff value of 2.5.The sensitivity and specificity were 80.0%and 78.7%,respectively.Con-clusion The simplified scoring system,based on early assessments of GCS score,qSOFA score,lactate,pro-calcitonin,and albumin levels,demonstrates substantial predictive value for in-hospital mortality in patients with septic shock.