1.Two cases of Non-classic adrenal hyperplasia: Diagnostic strategies and genetic variant analysis.
Qigang ZHANG ; Xia ZHAN ; Qing SHENG ; Mi YU ; Yinbao LU
Chinese Journal of Medical Genetics 2026;43(4):273-280
OBJECTIVE:
To investigate the clinical characteristics, steroid hormone profiles, and genetic variants in two female patients with Non-classic adrenal hyperplasia (NCAH).
METHODS:
Clinical data and samples were collected from two patients who had visited Huaian Maternal and Child Health Care Hospital Affiliated to Medical College of Yangzhou University on September 27, 2022 and June 25, 2023, respectively, with an initial diagnosis of Polycystic ovary syndrome (PCOS) and suspected NCAH. Seven steroid hormones in dried blood spots were analyzed using liquid chromatography-tandem mass spectrometry (LC-MS/MS). Single base variants and repeat/deletions in the CYP21A2 gene were analyzed by using a classic congenital adrenal hyperplasia (CAH) gene assay, and 10 related genes were analyzed by third-generation sequencing (TGS) should the variants be unclear. This study has been approved by the Medical Ethics Committee of the hospital (Ethics No.: 2025003).
RESULTS:
Patient 1 was a 14-year-old girl, and patient 2 was a 23-year-old woman with insulin resistance. Both patients had hirsutism, acne, bilateral polycystic ovarian morphology, in addition with significantly elevated serum testosterone by chemiluminescence. The steroid hormone profiles of both patients suggested a significant increase in 17-hydroxyproesterone, normal cortisol and 11-deoxycortisol. Patient 2 additionally showed a significant rise in 21-deoxycortisol. The presentation of both patients was indicative of NCAH, which was also evidenced by their respective medical histories. Sanger sequencing of long fragment PCR amplification combined with multiplex ligation-dependent probe amplification (MLPA) revealed that patient 1 harbored a mild c.92C>T (p.P31L) variant and a severe variant with a large segmental deletion in CYP21A2. Patient 2 was finally confirmed by TGS to carry mild CYP21A2 variants in the 5' untranslated region (5' UTR) promotor region (c.-126C>T, c.-113G>A, c.-110T>C) and a severe c.293-13C/A>G variant. The promotor region variants had resulted in decompression of the long fragment P1X/P2 amplification, leading to homozygous result of Sanger sequencing for c.293-13C/A>G, which in turn halved the amplification signal for the wt-113 SNP probe. In addition, the wtI2G-A probe was enhanced by interference in the MLPA assay.
CONCLUSION
This study demonstrated that NCAH should be excluded when PCOS is accompanied by a significant increase in serum testosterone, that mass spectrometry of steroid hormone profiles containing 17-hydroxyprogesterone is useful for the detection of NCAH, and that TGS is advantageous in confirming the diagnosis of NCAH when compared with conventional genetic testing methods.
Humans
;
Female
;
Adrenal Hyperplasia, Congenital/blood*
;
Adolescent
;
Steroid 21-Hydroxylase/genetics*
;
Young Adult
;
Genetic Variation
;
Adult
2.Predictive Factors Associated With Dysphagia in Patients With Traumatic Brain Injury
Shu-Mei YANG ; Ting-Ju LAI ; Ya-Chu HSU ; Yu-Lin LU ; Hsing-Yu CHEN ; Hsiao-Ting TSAI ; Sheng-Hao CHENG ; Ming-Yen HSIAO ; Meng-Ting LIN
Annals of Rehabilitation Medicine 2026;50(2):117-128
Objective:
To identify early clinical predictors associated with dysphagia and delayed swallowing recovery in patients with traumatic brain injury (TBI).
Methods:
In this retrospective study, we enrolled adult TBI patients admitted to the rehabilitation unit of a tertiary medical center between June 2019 and June 2023. Data on baseline characteristics, neurological status, imaging findings, and rehabilitation-related variables were collected. Swallowing function was assessed using two indicators: (1) nasogastric (NG) tube retention and (2) the Functional Oral Intake Scale (FOIS) scores at 1, 4, and 12 weeks post-injury. Regression analyses were conducted to identify predictors associated with dysphagia and swallowing recovery.
Results:
A total of 160 patients were included. At 1 week post-injury, longer intensive care unit (ICU) stay, poor initial sitting balance and use of sedative medication in ICU were associated with NG tube retention. At 4 weeks, lower initial Rancho Los Amigos Scale (RLAS) scores, immobility-related complications, longer hospitalization, and temporal lobe hematomas were associated with persistent NG tube dependence. By 12 weeks, older age, delayed ability to follow commands, and poor initial sitting balance remained associated with NG tube retention. FOIS outcomes were also associated with older age, delayed time to follow commands, impaired initial sitting balance, prolonged ICU stay, temporal lobe hematomas, lower initial RLAS scores, immobility-related complications, prolonged endotracheal tube placement and extended hospital stays.
Conclusion
Impaired cognitive status, poor physical function, immobility-related complications, and temporal lobe hematomas were key factors associated with dysphagia and delayed oral intake in individuals with TBI.
3.Is It Time to Replace the Duodenal Self-Expandable Metal Stent with Endoscopic Ultrasonography-Guided Gastroenterostomy for Malignant Gastric Outlet Obstruction in Patients with Pancreatic Cancer?
Hsiao-Sheng LU ; Kuei-Chuan LEE ; Ming-Chih HOU
Gut and Liver 2026;20(1):37-46
Malignant gastric outlet obstruction (MGOO) occurs in 2% to 25% of patients with pancreatic ductal adenocarcinoma (PDAC) who do not undergo surgical intervention. Over the past decade, duodenal self-expandable metal stent (D-SEMS) has been widely used for MGOO and has demonstrated high technical (89.1% to 100%) and clinical (85.7% to 94.3%) success rates.Endoscopic ultrasonography-guided gastroenterostomy (EUS-GE) has emerged as a promising alternative with comparable technical (89.3% to 98.9%) and clinical (89.0% to 100%) success rates. Notably, EUS-GE reduces the 6-month reintervention rate by approximately 25% relative to D-SEMS in patients with MGOO, thus making it an increasingly popular treatment option. Despite its advantages, EUS-GE may not be suitable for patients with massive ascites, extensive peritoneal carcinomatosis, gastric linitis plastica, or an inaccessible small bowel. Moreover, EUSGE requires a longer procedure time and incurs higher overall costs, even when considering the increased reintervention rate associated with D-SEMS. While the risk of adverse events is similar between EUS-GE and D-SEMS, EUS-GE requires a higher level of operator expertise to ensure safety and may also require deeper levels of anesthesia than D-SEMS. Advancements in cancer therapy have prolonged survival in PDAC patients, but most do not require reintervention for MGOO, unlike those with other malignancies. Thus, EUS-GE may be suitable for patients with a longer life span who are willing to undergo deep anesthesia at a high-volume center with an experienced specialist. Given these considerations, more comprehensive studies are needed before EUS-GE can be recommended as a standard replacement for D-SEMS in the treatment of MGOO.
4.Influence of Footwear on Foot Comfort of Workers Engaged in Prolonged Standing Occupations: A Systematic Review
Lu-ping KANG ; Tai-sheng GONG ; Xiao-hong QUAN ; Chen ZHANG
Safety and Health at Work 2026;17(1):24-32
Prolonged standing work can lead to various lower limb health issues. Footwear, as a convenient and noninvasive intervention, plays a key role in foot protection. The purpose of this review was to evaluate the impact of footwear characteristics on foot comfort among workers engaged in prolonged standing occupations. A systematic search of PubMed, Web of Science, Scopus, and the Cochrane Library was conducted until March 2025 for experimental and observational studies; the review is registered in International Prospective Register of Systematic Reviews (CRD420251003253).Given the diversity of study designs, participant characteristics, and outcome measures, results were synthesized narratively, organizing findings by footwear design factors. The synthesis indicated that soft soles reduce foot impact and fatigue but offer limited support, whereas hard soles enhance stability but may cause localized pressure and discomfort. Sole hardness should balance cushioning and support based on activity: hard soles for standing and soft soles for walking. Insole hardness must be carefully considered as semirigid arch supports can cause discomfort. Most insoles improve pressure distribution by adjusting arch loading, and some enhance intrinsic foot muscles by promoting toe engagement, reducing leg swelling. Custom orthotic insoles outperform standard ones in comfort and balance. Future research should promote interdisciplinary collaboration with footwear designers to explore key design parameters and establish a scientific framework for protective footwear.
5.Association between knowledge of injury prevention and injury occurrence among primary and secondary school students in Dongguan
CHEN Ailan, YUAN Kongjun, YANG Sheng, ZENG Yuming, HUANG Banru, LU Jiawei
Chinese Journal of School Health 2026;47(6):804-808
Objective:
To investigate the association between injury prevention knowledge level and injury occurrence among primary and secondary school students in Dongguan, so as to provide scientific basis for formulating targeted and evidence based intervention strategies for child injury.
Methods:
From March to April 2024, stratified cluster random sampling method was applied to select 5 988 primary and secondary school students in grades 4-9 for a survey. The Revised Questionnaire for the 2016-2020 Child Injury Prevention Project (senior version) was used to collect demographic characteristics, family and caregiver information, injury event characteristics, and knowledge, attitude, and practice related to injury prevention. Mann-Whitney U test was used for inter group comparison. Propensity score matching (PSM) was applied to balance confounders, and conditional Logistic regression was used to analyze the association between injury prevention knowledge score and injury occurrence among primary and secondary school students, and a restricted cubic spline (RCS) model was employed to test the dose response relationship. Furthermore, interaction terms were introduced to examine the moderating effects of sex, grade level, and caregiver’s educational level.
Results:
The overall incidence of injuries among primary and secondary school students was 18.15%. The knowledge score of injury prevention was significantly lower in the injury group [20.0(18.0,22.0)] than in the non injury group [21.0(19.0,22.0)] ( Z = 8.24 , P <0.01). After PSM, 1 068 pairs were successfully matched, and the standardized mean difference for all covariates was <0.1. An increase in injury prevention awareness scores was associated with a reduced risk of injury occurrence among primary and secondary school students ( OR =0.92, P <0.05). The RCS analysis showed an approximately linear negative association between injury prevention knowledge score and injury risk among primary and secondary school students ( P non linear =0.72), with a decreased injury risk when score exceeded 24 ( OR = 0.69, P <0.05). Subgroup analyses indicated that the negative correlation between cognitive level and the risk of injury was common in different gender, grade and caregivers educational level groups ( OR =0.87- 0.93 , all P <0.05). Sensitivity analyses yielded results consistent with the primary analysis.
Conclusions
The incidence of injuries among primary and secondary school students in Dongguan City is relatively high. Injury prevention knowledge level is negatively associated with injury occurrence risk, exhibiting an approximately linear dose response relationship.
6.Study on the mechanism of Jiawei xiaochaihu decoction inhibiting hippocampal neuronal apoptosis in epileptic mice via regulating AKT/Bcl-xL/Bax/Caspase-3 signaling axis
Ling LU ; Sheng ZHUANG ; Yijue QIN ; Haishun QU ; Yanwei YANG ; Weicheng XU
China Pharmacy 2026;37(13):1728-1734
OBJECTIVE To explore the mechanism of Jiawei xiaochaihu decoction against hippocampal neuronal apoptosis in acute epileptic model mice. METHODS Thirty-six male KM mice were randomly divided into four groups with 9 mice in each group: normal control group (normal saline), epilepsy model group (normal saline), Jiawei xiaochaihu decoction group [7 g/(kg·d)] and carbamazepine group [positive control, 30 mg/(kg·d)]. Except for the normal control group, the acute epilepsy model was established in the other groups. After successful modeling, mice in each group were given corresponding drugs or normal saline by intragastric administration once a day for 2 consecutive weeks. After drug intervention, the ultrastructure and pathological morphology of hippocampal CA1 region were observed. The number of TUNEL-positive cells in hippocampus was detected, and the expression levels of protein kinase B (AKT), Caspase-3, B-cell lymphoma-extra large (Bcl-xL), Bcl-2-associated X protein (Bax), as well as the ratio of phosphorylated AKT(p-AKT) to AKT were determined. RESULTS Compared with the normal control group, severe ultrastructural and pathological damages were observed in the hippocampal CA1 region of epilepsy model group; the number of TUNEL-positive cells was significantly increased ( P <0.05). The expression levels of p-AKT and Bcl-xL were significantly down-regulated ( P <0.05), while the Bax and Caspase-3 were significantly up-regulated ( P <0.05),accompanied by a remarkable decrease of p-AKT/AKT ratio ( P <0.05). Compared with the epilepsy model group, hippocampal tissue ultrastructure, pathological damage, and the aforementioned indicators were significantly improved in Jiawei xiaochaihu decoction group ( P <0.05). CONCLUSIONS Jiawei xiaochaihu decoction can inhibit hippocampal neuronal apoptosis in acute epileptic mice, and its mechanism may be related to activating AKT phosphorylation, increasing p-AKT/AKT ratio, up-regulating Bcl-xL expression and down-regulating the expression of Bax and Caspase-3.
7.Study on the mechanism of Jiawei xiaochaihu decoction inhibiting hippocampal neuronal apoptosis in epileptic mice via regulating AKT/Bcl-xL/Bax/Caspase-3 signaling axis
Ling LU ; Sheng ZHUANG ; Yijue QIN ; Haishun QU ; Yanwei YANG ; Weicheng XU
China Pharmacy 2026;37(13):1728-1734
OBJECTIVE To explore the mechanism of Jiawei xiaochaihu decoction against hippocampal neuronal apoptosis in acute epileptic model mice. METHODS Thirty-six male KM mice were randomly divided into four groups with 9 mice in each group: normal control group (normal saline), epilepsy model group (normal saline), Jiawei xiaochaihu decoction group [7 g/(kg·d)] and carbamazepine group [positive control, 30 mg/(kg·d)]. Except for the normal control group, the acute epilepsy model was established in the other groups. After successful modeling, mice in each group were given corresponding drugs or normal saline by intragastric administration once a day for 2 consecutive weeks. After drug intervention, the ultrastructure and pathological morphology of hippocampal CA1 region were observed. The number of TUNEL-positive cells in hippocampus was detected, and the expression levels of protein kinase B (AKT), Caspase-3, B-cell lymphoma-extra large (Bcl-xL), Bcl-2-associated X protein (Bax), as well as the ratio of phosphorylated AKT(p-AKT) to AKT were determined. RESULTS Compared with the normal control group, severe ultrastructural and pathological damages were observed in the hippocampal CA1 region of epilepsy model group; the number of TUNEL-positive cells was significantly increased ( P <0.05). The expression levels of p-AKT and Bcl-xL were significantly down-regulated ( P <0.05), while the Bax and Caspase-3 were significantly up-regulated ( P <0.05),accompanied by a remarkable decrease of p-AKT/AKT ratio ( P <0.05). Compared with the epilepsy model group, hippocampal tissue ultrastructure, pathological damage, and the aforementioned indicators were significantly improved in Jiawei xiaochaihu decoction group ( P <0.05). CONCLUSIONS Jiawei xiaochaihu decoction can inhibit hippocampal neuronal apoptosis in acute epileptic mice, and its mechanism may be related to activating AKT phosphorylation, increasing p-AKT/AKT ratio, up-regulating Bcl-xL expression and down-regulating the expression of Bax and Caspase-3.
8.Comparison of clinical efficacy between robotic-assisted total hip arthroplasty and traditional total hip arthroplasty.
Hao YANG ; Wen-Han FU ; Ming LU ; Zong-Sheng YIN
China Journal of Orthopaedics and Traumatology 2025;38(10):1001-1008
OBJECTIVE:
To explore and analyze the clinical efficacy of robotic-assisted versus traditional total hip arthroplasty.
METHODS:
A total of 186 patients with end-stage hip joint diseases treated from January 2023 to April 2025 were selected as the research subjects. Among them, 85 patients were screened out using propensity score matching and divided into two groups according to different treatment methods:manual total hip arthroplasty (mTHA) group (mTHA group) and robotic-assisted total hip arthroplasty (rTHA) group (rTHA group). In mTHA group, there were 50 patients, including 18 males and 32 females, age ranged from 37 to 78 years old with a mean of (60.12±10.93) years old;body mass index (BMI) ranged from 16.6 to 32.0 kg·m-2 with an average of (23.98±3.78) kg·m-2;27 cases involved the left hip, and 23 cases involved the right hip. In the rTHA group, there were 35 patients, including 14 males and 21 females, age ranged from 31 to 76 years old with an average of (57.14±12.18) years old;the BMI ranged from 17.1 to 33.0 kg·m-2 with a mean of (22.76±2.54) kg·m-2;13 cases involved the left hip, and 22 cases involved the right hip. The following parameters were analyzed and compared between the two groups:acetabular anteversion angle, acetabular abduction angle, difference in combined offset, difference in lower limb length, proportion of acetabula located in the Lewinnek safe zone after surgery, operation time, visual analogue scale (VAS) score, Western Ontario and McMaster Universities osteoarthritis index (WOMAC) score, and Harris hip score (HHS).
RESULTS:
All patients were followed up for 3 to 9 months, with an average of (6.8±1.3) months. In rTHA group and mTHA group, the abduction angles were (40.73±4.62)° and (40.95±4.71)° respectively;the differences in combined offset were (0.42±0.28) mm and (0.60±0.23) mm respectively;the WOMAC scores were(20.9±5.4) and (20.2±4.6) respectively;and the VAS were (1.1±1.0) and (1.0±0.8) respectively. There were no statistically significant differences in the above indicators between the two groups (P>0.05). However, statistically significant differences were observed between the two groups in the following aspects(P<0.05):the differences in lower limb length were (3.17±0.15) mm and (5.28±0.47) mm respectively;the postoperative acetabular anteversion angles were(22.84±2.83)° and (25.72±3.29)° respectively;the HHS were (80.7±5.5) and (74.8±6.3) respectively;and the operation times were (148.20±46.82) minutes and (81.84±18.76) minutes respectively.
CONCLUSION
Robot-assisted total hip arthroplasty demonstrates superior implant accuracy and improved early functional recovery compared with traditional manual THA. Nevertheless, it is associated with significantly longer operation time. Long-term prosthesis survival rate requires further follow-up verification.
Humans
;
Male
;
Female
;
Arthroplasty, Replacement, Hip/methods*
;
Middle Aged
;
Aged
;
Adult
;
Robotic Surgical Procedures/methods*
;
Treatment Outcome
9.Establishment of a nomogram for early risk prediction of severe trauma in primary medical institutions: A multi-center study.
Wang BO ; Ming-Rui ZHANG ; Gui-Yan MA ; Zhan-Fu YANG ; Rui-Ning LU ; Xu-Sheng ZHANG ; Shao-Guang LIU
Chinese Journal of Traumatology 2025;28(6):418-426
PURPOSE:
To analyze risk factors for severe trauma and establish a nomogram for early risk prediction, to improve the early identification of severe trauma.
METHODS:
This study was conducted on the patients treated in 81 trauma treatment institutions in Gansu province from 2020 to 2022. Patients were grouped by year, with 5364 patients from 2020 to 2021 as the training set and 1094 newly admitted patients in 2020 as the external validation set. Based on the injury severity score (ISS), patients in the training set were classified into 2 subgroups of the severe trauma group (n = 478, ISS scores ≥25) and the non-severe trauma group (n = 4886, ISS scores <25). Univariate and binary logistic regression analyses were employed to identify independent risk factors for severe trauma. Subsequently, a predictive model was developed using the R software environment. Furthermore, the model was subjected to internal and external validation via the Hosmer-Lemeshow test and receiver operating characteristic curve analysis.
RESULTS:
In total, 6458 trauma patients were included in this study. Initially, this study identified several independent risk factors for severe trauma, including multiple traumatic injuries (polytrauma), external hemorrhage, elevated shock index, elevated respiratory rate, decreased peripheral oxygen saturation, and decreased Glasgow coma scale score (all p < 0.05). For internal validation, the area under the receiver operating characteristic curve was 0.914, with the sensitivity and specificity of 88.4% and 87.6%, respectively; while for external validation, the area under the receiver operating characteristic curve was 0.936, with the sensitivity and specificity of 84.6% and 93.7%, respectively. In addition, a good model fitting was observed through the Hosmer-Lemeshow test and calibration curve analysis (p > 0.05).
CONCLUSION
This study establishes a nomogram for early risk prediction of severe trauma, which is suitable for primary healthcare institutions in underdeveloped western China. It facilitates early triage and quantitative assessment of trauma severity by clinicians prior to clinical interventions.
Humans
;
Nomograms
;
Male
;
Female
;
Wounds and Injuries/diagnosis*
;
Risk Factors
;
Middle Aged
;
Adult
;
Injury Severity Score
;
Risk Assessment
;
ROC Curve
;
Aged
;
Logistic Models
;
China
;
Glasgow Coma Scale
10.Surgical approaches to varicocele: a systematic review and network meta-analysis.
Lin-Jie LU ; Kai XIONG ; Sheng-Lan YUAN ; Bang-Wei CHE ; Jian-Cheng ZHAI ; Chuan-Chuan WU ; Yang ZHANG ; Hong-Yan ZHANG ; Kai-Fa TANG
Asian Journal of Andrology 2025;27(6):728-737
Surgical methods for varicocele remain controversial. This study intends to evaluate the efficacy and safety of different surgical approaches for treating varicocele through a network meta-analysis (NMA). PubMed, Embase, Cochrane, and Web of Science databases were thoroughly searched. In total, 13 randomized controlled trials (RCTs) and 24 cohort studies were included, covering 9 different surgical methods. Pairwise meta-analysis and NMA were performed by means of random-effects models, and interventions were ranked based on the surface under the cumulative ranking curve (SUCRA). According to the SUCRA, microsurgical subinguinal varicocelectomy (MSV; 91.6%), microsurgical retroperitoneal varicocelectomy (MRV; 78.2%), and microsurgical inguinal varicocelectomy (MIV; 76.7%) demonstrated the highest effectiveness in reducing postoperative recurrence rates. In this study, sclerotherapy embolization (SE; 87.2%), MSV (77.9%), and MIV (67.7%) showed the best results in lowering the risk of hydrocele occurrence. MIV (82.9%), MSV (75.9%), and coil embolization (CE; 58.7%) were notably effective in increasing sperm motility. Moreover, CE (76.7%), subinguinal approach varicocelectomy (SV; 69.2%), and SE (55.7%) were the most effective in increasing sperm count. SE (82.5%), transabdominal laparoscopic varicocelectomy (TLV; 76.5%), and MRV (52.7%) were superior in shortening the length of hospital stay. The incidence rates of adverse events for MRV (0), SE (3.3%), and MIV (4.1%) were notably low. Cluster analyses indicated that MSV was the most effective in the treatment of varicocele. Based on the existing evidence, MSV may represent the optimal choice for varicocele surgery. However, selecting clinical surgical strategies requires consideration of various factors, including patient needs, surgeon experience, and the learning curve.
Humans
;
Male
;
Embolization, Therapeutic/methods*
;
Microsurgery/methods*
;
Randomized Controlled Trials as Topic
;
Sclerotherapy/methods*
;
Treatment Outcome
;
Urologic Surgical Procedures, Male/methods*
;
Varicocele/surgery*


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