OBJECTIVE: To analyze the phenotype and genotype of a neonate with Osteo-oto-hepato-enteric syndrome (O2HE) and review the literature. METHODS: A female neonate diagnosed with O2HE syndrome on December 13, 2024 at the First Affiliated Hospital of Zhengzhou University was selected as the study subject, and her clinical characteristics were analyzed, and pathogenic variants were explored by whole exome sequencing (WES). This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2025-KY-1038). RESULTS: The proband, a female infant, was delivered by Cesarean section at 36⁺¹ weeks of gestation. Five days after birth, she had developed severe diarrhea, mild cholestasis, sensorineural hearing loss, and growth retardation. WES revealed that she has harbored novel compound heterozygous variants c.512delA (p.Lys171Serfs*64) and c.698C>A (p.Thr233Asn) of the UNC45A gene, which were inherited from her mother and father, respectively. A total of 8 English papers were retrieved, which involved 16 patients from 14 families. Combined with our case, the 17 patients included 13 (76.5%) females and 4 (23.5%) males. Four patients (23.5%) had consanguineous parents. One case was excluded from further genetic analysis due to co-morbidity with other genetic variants. The primary clinical features included diarrhea (87.5%), cholestasis (81.3%), sensorineural hearing loss (31.3%), bone fragility (37.5%), and developmental delay (50.0%). Bi-allelic compound heterozygous mutations were identified in 12 patients (75.0%), and homozygous variants in 4 (25.0%). These included missense, nonsense, frameshift and deletional variants. The c.710T>C (p.Leu237Pro) variant was identified for 5 times, 3 of which were in homozygote forms. CONCLUSION O2HE syndrome should be suspected in cases with diarrhea, cholestasis, and hearing abnormalities during early postnatal period. Genetic testing facilitate early identification, genetic diagnosis and treatment.
Humans ; Female ; Infant, Newborn ; Male ; Mutation ; Hearing Loss, Sensorineural/genetics* ; Diarrhea, Infantile/genetics* ; Exome Sequencing ; Phenotype ; Fetal Growth Retardation ; Hair Diseases ; Facies

Background Platelet parameters are important indicators of cardiovascular risk, and environmental pollutants such as polychlorinated biphenyls (PCBs) may impair platelet function through oxidative stress. Objective To investigate the differential effects of single and mixed exposure to PCBs on platelet parameters among individuals with normal glucose tolerance (NGT), impaired fasting glucose (IFG), and type 2 diabetes mellitus (T2DM), and to evaluate the potential modifying role of a healthy lifestyle. Methods This study included 2249 participants (including 707 with NGT, 759 with IFG, and 783 with T2DM). Plasma PCB concentrations were measured using triple quadrupole gaschromatography-tandem mass spectrometry. Generalized linear regression was used to assess the associations between individual PCB congeners and platelet parameters. Quantile g-computation (QGC) and Bayesian kernel machine regression (BKMR) models were used to evaluate the overall effects of PCBs mixture exposure on platelet parameters across different glycemic states, as well as its interaction with healthy lifestyle score (HLS). Results Generalized linear regression analyses showed significant differences in the effects of PCBs on platelet parameters across different glycemic states (P<0.05). After adjusting for confounders, PCBs mixture exposure was significantly associated with lower platelet counts (PLT) in individuals with NGT (b=−10.60, 95%CI: −16.48, −4.71) and IFG (b=−12.91, 95%CI: −18.90, −6.92), whereas no significant association was observed in individuals with T2DM (P=0.051). Mean platelet volume (MPV) and platelet-large cell ratio (P-LCR) increased significantly with higher PCBs exposure levels across all three groups (P<0.05). BKMR analysis showed a positive association between PCBs mixture exposure and P-LCR, with the strongest association observed in the NGT group. Furthermore, a significant interaction was observed between HLS and PCBs mixture exposure, and a higher HLS attenuated the effects of PCBs on P-LCR. Conclusion Glycemic glycemic states may modify the effects of PCBs on platelets. Individuals with NGT appear more sensitive to PCBs exposure, whereas the T2DM state may attenuate this effect. Moreover, healthy lifestyles, including not smoking, moderate alcohol consumption, maintaining moderate-to-high physical activity, a healthy diet, and an appropriate body mass index (BMI), may mitigate the adverse effects of most PCBs on platelet parameters.

Background Platelet parameters are important indicators of cardiovascular risk, and environmental pollutants such as polychlorinated biphenyls (PCBs) may impair platelet function through oxidative stress. Objective To investigate the differential effects of single and mixed exposure to PCBs on platelet parameters among individuals with normal glucose tolerance (NGT), impaired fasting glucose (IFG), and type 2 diabetes mellitus (T2DM), and to evaluate the potential modifying role of a healthy lifestyle. Methods This study included 2249 participants (including 707 with NGT, 759 with IFG, and 783 with T2DM). Plasma PCB concentrations were measured using triple quadrupole gaschromatography-tandem mass spectrometry. Generalized linear regression was used to assess the associations between individual PCB congeners and platelet parameters. Quantile g-computation (QGC) and Bayesian kernel machine regression (BKMR) models were used to evaluate the overall effects of PCBs mixture exposure on platelet parameters across different glycemic states, as well as its interaction with healthy lifestyle score (HLS). Results Generalized linear regression analyses showed significant differences in the effects of PCBs on platelet parameters across different glycemic states (P<0.05). After adjusting for confounders, PCBs mixture exposure was significantly associated with lower platelet counts (PLT) in individuals with NGT (b=−10.60, 95%CI: −16.48, −4.71) and IFG (b=−12.91, 95%CI: −18.90, −6.92), whereas no significant association was observed in individuals with T2DM (P=0.051). Mean platelet volume (MPV) and platelet-large cell ratio (P-LCR) increased significantly with higher PCBs exposure levels across all three groups (P<0.05). BKMR analysis showed a positive association between PCBs mixture exposure and P-LCR, with the strongest association observed in the NGT group. Furthermore, a significant interaction was observed between HLS and PCBs mixture exposure, and a higher HLS attenuated the effects of PCBs on P-LCR. Conclusion Glycemic glycemic states may modify the effects of PCBs on platelets. Individuals with NGT appear more sensitive to PCBs exposure, whereas the T2DM state may attenuate this effect. Moreover, healthy lifestyles, including not smoking, moderate alcohol consumption, maintaining moderate-to-high physical activity, a healthy diet, and an appropriate body mass index (BMI), may mitigate the adverse effects of most PCBs on platelet parameters.

OBJECTIVE To evaluate the characteristics of adverse drug event （ADE） associated with five therapeutic agents for Gaucher disease（imiglucerase， velaglucerase alfa， taliglucerase alfa， eliglustat，and miglustat）. METHODS ADE reports related to the above five drugs were retrieved from the FDA Adverse Event Reporting System （FAERS） database from January 2004 to September 2025. The reporting odds ratio （ROR） and proportional reporting ratio （PRR） methods were applied for data mining. system organ class （SOC） and preferred term （PT） from the Medical Dictionary for Regulatory Activities （MedDRA， version 26.0） drug ADE terminology were used for classification and statistical analysis of ADE. RESULTS A total of 4 329， 1 740， 500， 1 329 and 998 ADE reports were retrieved for the aforementioned five drugs， respectively， generating 4 612， 2 605， 776， 1 157 and 2 185 ADE signals. These signals involved 26 SOC， affecting 25， 26， 16， 19， and 19 SOC， respectively. The predominant SOCs were various injuries， poisoning and procedural complications， as well as infections and infestations. The top one PTs of each drug were as follows： bone infarction， zinc deficiency， failure to perform drug monitoring steps， ichthyosis， abnormal nerve conduction examination. New suspected PTs included weight gain and spontaneous abortion for imiglucerase and velaglucerase alfa， weight gain for taliglucerase alfa and eliglustat， and neuropsychiatric manifestations such as dementia and apathy for miglustat. In terms of severe ADEs， other serious medical events were predominant for imiglucerase and taliglucerase alfa； prolonged hospital stays were the main severe ADE for velaglucerase alfa and eliglustat； and death was the leading severe ADE for miglustat. CONCLUSIONS In clinical medication， apart from common ADE，for imiglucerase， clinicians should be alert to bone infarction， weight gain and spontaneous abortion， and strengthen monitoring related to bones， metabolism and pregnancy. For velaglucerase alfa， attention should be paid to zinc deficiency， bone infarction， weight gain and spontaneous abortion， with focused monitoring of nutritional status and pregnancy risks. For taliglucerase alfa， failure to perform drug monitoring steps and weight gain require vigilance， and medication procedures should be standardized along with regular weight monitoring. For eliglustat， clinicians need to watch out for ichthyosis and weight gain and pay close attention to skin conditions. For miglustat， bone infarction， abnormal nerve conduction examination and dementia should be closely monitored， with enhanced surveillance on nervous system function， infections and prognosis of critically ill patients，to ensure patient medication safety.

Objective: To assess parental expectations for the development of children with autism spectrum disorder (ASD) and identify factors associated with these expectations, so as to provide references for improving rehabilitation outcomes and long term development in children with ASD. Methods: From June 2024 to January 2026, a total of 877 children with ASD and their parents were recruited from 27 rehabilitation institutions in Hefei. The children had been diagnosed by chief physicians at tertiary level hospitals. Demographic characteristics and data on parental expectations were collected by the Parental Expectations Questionnaire. Differences in parental expectations between groups were assessed using the Mann-Whitney U- test and Kruskal-Wallis H-test, and associated factors were examined using quantile regression. Results: The mean item score for overall parental expectations among parents of children with ASD was (4.55±0.47), and scores for all dimensions were higher than those among parents of typically developing children ( t =11.11-31.14, all P <0.01). Child age, school enrollment, and maternal personality were associated with daily living expectation scores, learning and special talents and strengths expectation scores, and special talents and strengths expectation scores, respectively ( H =6.16-8.18, all P <0.05). Parents of preterm children had higher expectations for social interaction, physical and mental well being, and daily living than parents of non-preterm children ( Z =-2.56, -2.48, -2.39, all P <0.05). Multivariate quantile regression analysis showed that children’s age was associated with the expected level of self care ability; school enrollment status was associated with the expected level of learning and specialty strengths; maternal personality was associated with the expected levels of social competence, physical and mental health, self care ability, and specialty strengths; parental age was associated with the expected levels of physical and mental health and specialty strengths; and parental educational attainment was associated with the expected level of self care ability ( β =-0.36-0.41, all P <0.05). Conclusion Parents of children with ASD in Hefei generally have high expectations for their children s development across the domains of learning, daily living, social interaction, and physical and mental well being.

Objective Jejunal interposition is an important option for restoring gastrointestinal continuity in patients with complex esophageal cancer in whom the stomach is unavailable for reconstruction due to previous gastrectomy, tumor involvement, failed gastric conduit, or other constraints. Although the jejunum offers a caliber similar to the esophagus, a rich blood supply, and preserved peristaltic function, anatomical variations in mesenteric length and vascular arcades render long-segment and high-level reconstruction susceptible to excessive tension, mesenteric torsion, venous congestion, and inadequate distal perfusion. This consensus aims to provide standardized recommendations for the application of jejunal interposition in this specific patient population. Methods This consensus was developed in accordance with the WHO Handbook for Guideline Development and Chinese national guideline development standards, with reference to the Appraisal of Guidelines for Research & Evaluation Ⅱ(AGREE Ⅱ), Reporting Items for Practice Guidelines in Healthcare (RIGHT), and Scientific, Transparent and Applicable Rankings (STAR) checklists. The project was registered on the international practice guidelines registry platform (PREPARE-2026CN1384). The working group systematically searched Chinese and English evidence addressing 12 clinical questions. Evidence was graded using the Oxford Centre for Evidence-Based Medicine (OCEBM) 2009 system, with structured appraisal of risk of bias, inconsistency, indirectness, and imprecision. Recommendations were formulated through two rounds of Delphi surveys and a face-to-face consensus meeting, with an agreement threshold of ≥75%. Results The consensus generated 12 recommendations covering indications, selection between jejunum and colon, preoperative assessment, surgical approach and reconstruction route, pedicled jejunal interposition (PJI), supercharged pedicled jejunal interposition (SPJ), indocyanine green (ICG) perfusion assessment, perioperative nutrition, management of anastomotic leakage, long-term follow-up, and special treatment scenarios. Given that the available direct evidence is predominantly derived from single-center retrospective cohorts and case series, recommendations extrapolated from general esophagectomy or other gastrointestinal surgical evidence are deliberately phrased with caution. Conclusion Jejunal interposition is a safe and effective approach for digestive tract reconstruction in patients with complex esophageal cancer in whom the stomach is unavailable. This consensus emphasizes that clinical decision-making should be individualized based on the patient's prior treatment history, reconstruction height, vascular anatomy, technical availability, and institutional experience in the Chinese context.

Objective:To develop and validate a deep learning-based multimodal model integrating clinical and radiomic features for predicting acute kidney injury（AKI）risk after partial nephrectomy.Methods:A retrospective analysis was conducted on 416 patients who underwent partial nephrectomy at Zhongshan Hospital，Fudan University from January 2023 to January 2025. The cohort included 100 AKI patients［defined by a ≥ 25% reduction in postoperative evaluated glomerular filtration rate（eGFR）within 48 hours sustained for >24 hours］and 316 non-AKI patients（1∶3 ratio，randomly matched with 16 additional cases for redundancy）. Clinical and radiomic features were extracted from preoperative contrast-enhanced CT scans using PyRadiomics. Demographics included 259 males and 158 females，with a median age of 57（49，65）years，body mass index of（24.1 ± 3.3）kg/m2，preoperative eGFR of（88.5 ± 18.3）ml/（min·1.73 m2），postoperative eGFR（48-hour）of（76.0 ± 21.9）ml/（min·1.73 m2），Zhongshan Score（ZSscore）of 7.34 ± 2.01，and R.E.N.A.L. score of 7.50 ± 1.71. All tumors were T 1a stage. Patients were divided into training（n = 312）and test（n = 104）sets（3∶1 ratio）. A clinical model was constructed via multivariate logistic regression，while radiomic and combined（clinical + radiomic）models utilized an artificial neural network（ANN）with 1 input layer，5 hidden layers，1 output layer，and 10 5 training epochs. Model performance was evaluated by using receiver operating characteristic（ROC）curves and area under the curve（AUC），and was compared to the Martini model. Feature contributions were interpreted via SHapley Additive exPlanations（SHAP）. Results:In the test set，the results of multivariate logistic regression showed that patient’s weight，preoperative eGFR，R.E.N.A.L. score，surgical approach，and operation time were risk factors for AKI（ P < 0.05）. The AUC of the clinical feature prediction model constructed based on the above factors was 0.852（95% CI 0.775?0.929）. In the test set，the AUC of the Martini model was 0.725（95% CI 0.565?0.791）. The radiomic model，trained on 1 315 imaging features，achieved an AUC of 0.898（95% CI 0.804?0.993）with 94.2%（98/104）accuracy. The combined clinical and radiomic model，integrating 1 315 radiomic features and clinical features，demonstrated superior performance with an AUC of 0.946（95% CI 0.887?1.000）and 96.2%（100/104）accuracy，outperforming both the clinical model（ P = 0.03）and the Martini model（ P < 0.01）. SHAP analysis identified the top five predictors in the combined model：ZSscore（SHAP value：0.78），long-run low gray-level emphasis（SHAP value：0.61），run-length non-uniformity（SHAP value：0.58），size-zone non-uniformity（SHAP value：0.46），and gray-level co-occurrence matrix joint energy（SHAP value：0.36）. Conclusions:The deep learning-based multimodal model integrating clinical and radiomic features accurately predicts AKI risk after partial nephrectomy，offering a novel strategy for preoperative risk stratification and personalized intervention.

Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

Objective:To investigate the correlation between serum growth differentiation factor 15 (GDF15) and the clinicopathological characteristics of patients with IgA nephropathy (IgAN), and further explore the relationship of GDF15 with the cardiac and renal prognosis of IgAN patients.Methods:It was a single-center retrospective cohort study. From January 2018 to December 2022, the relevant data were collected from patients who were diagnosed with primary IgAN at the Department of Nephrology, Beijing Anzhen Hospital Affiliated to Capital Medical University, and regularly followed up for at least 1 year. Serum samples were collected at admission and the baseline level of serum GDF15 was measured. Based on the median GDF15 level, IgAN patients were categorized into high-level GDF15 group and low-level GDF15 group, and their clinicopathological characteristics were compared. A multiple linear regression model was then constructed to identify independent factors associated with serum GDF15 level based on these comparisons. Subsequently, Kaplan-Meier survival analysis was performed to investigate the association between serum GDF15 level and the cardiorenal prognosis of IgAN patients.Results:A total of 104 IgAN patients were included in this study. The serum GDF15 level in these IgAN patients was 825.60 (556.84, 1 428.15) ng/L. Serum GDF15 level was positively correlated with 24 h urinary protein ( r=0.405, P<0.001), negatively correlated with estimated glomerular filtration rate (eGFR)( r=-0.606, P<0.001). The serum levels of GDF15 in patients with tubular atrophy or interstitial fibrosis (overall comparison among T0, T1, and T2, H=21.866, P<0.001), crescentic lesions (overall comparison among C0, C1, and C2, H=13.787, P=0.001), or intrarenal arteriolar lesions (overall comparison among none, mild, and moderate-to-severe, H=9.856, P=0.007) were significantly different. Compared with IgAN patients without tubular atrophy or interstitial fibrosis, those with Oxford classification T1 ( Z=-17.326, P=0.042) or T2 ( Z=-42.933, P<0.001) had higher serum GDF15 levels. Compared with IgAN patients without crescentic lesions, those with Oxford classification C2 had higher serum GDF15 levels ( Z=-45.929, P=0.001). Compared with IgAN patients without intrarenal arteriolar lesions, those with moderate-to-severe arteriolar sclerosis had higher serum GDF15 levels ( Z=-26.686, P=0.005). The median GDF15 was used as the cut-off value to divide IgAN patients into a high-level GDF15 group (≥825.60 ng/L, n=52) and a low-level GDF15 group (<825.60 ng/L, n=52). Compared to low-level GDF15 group, IgAN patients in high-level GDF15 group presented with a higher proportion of diabetes mellitus ( χ 2=9.420, P=0.002) and cardiovascular disease ( χ 2=7.792, P=0.005), a higher level of systolic blood pressure ( Z=-2.266, P=0.023), body mass index ( Z=-2.183, P=0.031), 24 h urinary protein ( Z=-3.485, P<0.001), blood total cholesterol ( Z=-2.002, P=0.045) and left ventricular mass index ( Z=-2.649, P=0.008), and a lower level of blood albumin ( Z=-3.053, P=0.002) and eGFR ( Z=6.480, P<0.001). Multiple linear regression analysis showed that serum GDF15 level was independently associated with systolic blood pressure (regression coefficient B=29.453, 95% CI 14.139–44.767, P<0.001), blood albumin ( B=-81.412, 95% CI -113.084–-49.740, P<0.001) and eGFR ( B=-9.797, 95% CI -17.554–-2.040, P=0.014). Moreover, IgAN patients in high-level GDF15 group exhibited significantly poorer cardiac and renal prognosis compared to low-level GDF15 group ( χ 2=9.955, P=0.002). Conclusion:High serum GDF15 level correlates with disease severity in IgAN, and high serum GDF15 level may suggest a poorer cardiorenal prognosis in IgAN patients.

Humanistic caring for patients in the operating room refers to providing the whole process of caring medical services for patients in the operating room. In order to standardize humanistic caring services for patients in the operating room of medical institutions, improve the comprehensive service level of the operating room, and enhance the surgical experience of patients, the Chinese Association for Life Care released the group standard " Humanistic Caring Management Standards for Patients in the Operating Room" in December 2023. This article interpreted the basic requirements for humanistic caring of patients in the operating room, the environment and facilities for humanistic caring, the procedures and measures for humanistic caring, and the quality management framework, aiming to assist administrators and clinical practitioners across various levels of medical institutions in accurately understanding and effectively implementing the standard, and to provide essential textual reference and practical guidance for promoting the application of the standard.