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.Expert consensus on neoadjuvant PD-1 inhibitors for locally advanced oral squamous cell carcinoma (2026)
LI Jinsong ; LIAO Guiqing ; LI Longjiang ; ZHANG Chenping ; SHANG Chenping ; ZHANG Jie ; ZHONG Laiping ; LIU Bing ; CHEN Gang ; WEI Jianhua ; JI Tong ; LI Chunjie ; LIN Lisong ; REN Guoxin ; LI Yi ; SHANG Wei ; HAN Bing ; JIANG Canhua ; ZHANG Sheng ; SONG Ming ; LIU Xuekui ; WANG Anxun ; LIU Shuguang ; CHEN Zhanhong ; WANG Youyuan ; LIN Zhaoyu ; LI Haigang ; DUAN Xiaohui ; YE Ling ; ZHENG Jun ; WANG Jun ; LV Xiaozhi ; ZHU Lijun ; CAO Haotian
Journal of Prevention and Treatment for Stomatological Diseases 2026;34(2):105-118
Oral squamous cell carcinoma (OSCC) is a common head and neck malignancy. Approximately 50% to 60% of patients with OSCC are diagnosed at a locally advanced stage (clinical staging III-IVa). Even with comprehensive and sequential treatment primarily based on surgery, the 5-year overall survival rate remains below 50%, and patients often suffer from postoperative functional impairments such as difficulties with speaking and swallowing. Programmed death receptor-1 (PD-1) inhibitors are increasingly used in the neoadjuvant treatment of locally advanced OSCC and have shown encouraging efficacy. However, clinical practice still faces key challenges, including the definition of indications, optimization of combination regimens, and standards for efficacy evaluation. Based on the latest research advances worldwide and the clinical experience of the expert group, this expert consensus systematically evaluates the application of PD-1 inhibitors in the neoadjuvant treatment of locally advanced OSCC, covering combination strategies, treatment cycles and surgical timing, efficacy assessment, use of biomarkers, management of special populations and immune related adverse events, principles for immunotherapy rechallenge, and function preservation strategies. After multiple rounds of panel discussion and through anonymous voting using the Delphi method, the following consensus statements have been formulated: 1) Neoadjuvant therapy with PD-1 inhibitors can be used preoperatively in patients with locally advanced OSCC. The preferred regimen is a PD-1 inhibitor combined with platinum based chemotherapy, administered for 2-3 cycles. 2) During the efficacy evaluation of neoadjuvant therapy, radiographic assessment should follow the dual criteria of Response Evaluation Criteria in Solid Tumors (RECIST) version 1.1 and immune RECIST (iRECIST). After surgery, systematic pathological evaluation of both the primary lesion and regional lymph nodes is required. For combination chemotherapy regimens, PD-L1 expression and combined positive score need not be used as mandatory inclusion or exclusion criteria. 3) For special populations such as the elderly (≥ 70 years), individuals with stable HIV viral load, and carriers of chronic HBV/HCV, PD-1 inhibitors may be used cautiously under the guidance of a multidisciplinary team (MDT), with close monitoring for adverse events. 4) For patients with a poor response to neoadjuvant therapy, continuation of the original treatment regimen is not recommended; the subsequent treatment plan should be adjusted promptly after MDT assessment. Organ transplant recipients and patients with active autoimmune diseases are not recommended to receive neoadjuvant PD-1 inhibitor therapy due to the high risk of immune related activation. Rechallenge is generally not advised for patients who have experienced high risk immune related adverse events such as immune mediated myocarditis, neurotoxicity, or pneumonitis. 5) For patients with a good pathological response, individualized de escalation surgery and function preservation strategies can be explored. This consensus aims to promote the standardized, safe, and precise application of neoadjuvant PD-1 inhibitor strategies in the management of locally advanced OSCC patients.
3.Mechanism of action of gut microbiota in chronic pancreatitis fibrosis and related treatment strategies
Yunjun YAN ; Liang SHENG ; Qi WANG ; Shun PENG ; Jia LI ; Lei ZHANG
Journal of Clinical Hepatology 2026;42(2):484-489
Chronic pancreatitis (CP) is a common disease in clinical practice characterized by progressive inflammatory fibrosis of the pancreas. Gut microbiota, known as the “second genome” of humans, bidirectionally modulates the progression of fibrosis in CP via the gut-pancreas axis. This article systematically elaborates on the characteristics of gut microbiota during the progression of CP and its molecular mechanism in mediating pancreatic fibrosis through bacterial translocation, metabolites, immune regulatory networks, and microbe-pancreatic stellate cell interactions, with a focus on the pivotal role of short-chain fatty acids and inflammatory cytokine networks in pancreatic stellate cell activation and extracellular matrix deposition. In addition, this article explores the potential value of gut microbiota-targeted interventions in the prevention and treatment of CP fibrosis, such as probiotics, prebiotics, and fecal microbiota transplantation, and discusses the translational potential of using multi-omics technologies to identify diagnostic biomarkers and novel therapeutic targets for CP, in order to provide new ideas for the precise diagnosis and treatment of CP.
4.Influenza surveillance results in Ordos City in 2017 - 2023
Xiaomin ZHANG ; Hongtao XIAO ; Sheng WANG ; Rong SUN ; Shangwu JIN ; Di ZHANG ; Jiming HAO ; Jialin LYU ; Chunyan YANG
Journal of Public Health and Preventive Medicine 2026;37(2):54-58
Objective To analyze the influenza-like illness (ILI) data in Ordos City from 2017 to 2023 and conduct nucleic acid detection of the virus to understand the local influenza epidemic situation, and to provide a reliable basis for influenza prevention and control in the city. Methods Real-time quantitative polymerase chain reaction (qPCR) was used to identify virus subtypes in ILI throat swab samples. Comparisons of positive rates were conducted using the chi-square test, with a significance level of α=0.05. Results From 2017 to 2023, a total of 3,283,434 outpatient and emergency visits were recorded at the Ordos City Central Hospital, including 74,159 ILI cases, with an ILI proportion of 2.26%. The majority of ILI cases (74.43%) occurred in children aged 0~14 years old. The overall positive rate of influenza virus nucleic acid detection was 10.87%, with the highest proportion being subtype A (seasonal H3) at 43.03%. The highest detection rate was observed in the 5~14 years age group, with statistically significant differences in positive rates across age groups (χ2=155.638, P<0.001). Influenza peaks occurred mainly from November to March of the following year. From January to April, three types of influenza were prevalent alternately or mixed, while from October to December, subtype A (seasonal H3) predominated. Positive rates varied significantly across months (χ2=250.923, P<0.001). The temporal trends of ILI proportions and PCR-positive rates were consistent. Conclusion Influenza in Ordos City exhibits distinct seasonal and age distribution characteristics, with alternating or mixed circulation of three virus types. Continued efforts are needed to strengthen influenza surveillance, especially the prevention and control of influenza in infants and adolescents.
5.The role and mechanism of protein synthesis in muscle atrophy induced by acute kidney injury
Xiaolin LIU ; Qiongzhi ZHAO ; Bin GUO ; Sheng ZHANG
Acta Universitatis Medicinalis Anhui 2026;61(3):416-423
ObjectiveTo investigate the role and mechanism of ribosomal DNA (rDNA) transcription and ribosome biogenesis in muscle atrophy induced by acute kidney injury (AKI). MethodsEight male C57BL/6 mice were randomly divided into a control group (Ctrl) and a model group (AKI). An AKI model was established via intraperitoneal injection of cisplatin. Muscle atrophy was phenotypically assessed by measuring muscle mass, myofiber cross-sectional area (HE staining), and mRNA expression levels of atrophy-related genes (Murf-1, Atrogin-1, Igf-1) using qRT-PCR. In vivo protein synthesis rates were determined via the SUnSET assay (puromycin incorporation). Ribosome biogenesis was evaluated by assessing rRNA content and 47S pre-rRNA expression levels. Myotubes differentiated from mouse skeletal muscle cell lines (C2C12 myotubes) were treated with serum from AKI mice, and the effects on rDNA transcription, ribosome biogenesis, and protein metabolism were analyzed using chromatin immunoprecipitation followed by quantitative polymerase chain reaction (ChIP-qPCR) and Western blot. ResultsAKI successfully induced muscle atrophy, as evidenced by a significant reduction in skeletal muscle mass. The most pronounced decrease occurred in the extensor digitorum longus muscle (21.0%, P 0.01), along with a trend toward reduced myofiber cross-sectional area. At the molecular level, AKI inhibited muscle protein synthesis (83.14% reduction in puromycin incorporation, P 0.000 1) and impaired ribosome biogenesis, manifested by suppressed rDNA transcription elongation (52.62% decrease in 47S pre-rRNA ITS-1 levels, P 0.01) and reduced total rRNA content (65.29%, P 0.000 1). In contrast, serum from AKI mice promoted rDNA transcription initiation and protein synthesis in C2C12 myotubes in vitro. ConclusionAKI induces muscle atrophy by suppressing rDNA transcription and ribosome biogenesis in skeletal muscle, leading to impaired protein synthesis. Dysregulated ribosome biogenesis may play a critical role in AKI-induced muscle atrophy.
6.Strategies and Outcomes of Endovascular Treatment for Ruptured Vertebral Artery Dissecting Aneurysms: A Single-Center Experience with 44 Consecutive Cases
Haibin CHEN ; Qi JIA ; Guosai ZHANG ; Linbo ZHAO ; Sheng LIU
Neurointervention 2026;21(2):70-78
Purpose:
To evaluate the clinical outcomes of endovascular treatment for ruptured vertebral artery dissecting aneurysms (VADAs), with a focus on endovascular protocols tailored to different anatomical subtypes.
Materials and Methods:
We retrospectively analyzed 44 consecutive patients with ruptured VADAs treated from December 2014 to October 2024. Treatment strategies were guided by aneurysm location: parent artery occlusion (PAO) was used for lesions in non-dominant VAs, while stent-assisted coiling (SAC) reconstruction was used for aneurysms in dominant VAs. Patients were stratified by modified Rankin Scale (mRS) scores at 3-month follow-up (favorable: mRS 0–2; unfavorable: mRS 3–6).
Results:
All procedures were technically successful, including 12 single SAC, 13 overlapping SAC, and 19 with PAO (2 involving posterior inferior cerebellar artery preservation). Immediate complete occlusion was achieved in 50.0% of single SAC cases, 76.9% overlapping SAC, and 100% in the PAO group. Six (13.6%) procedure-related complications occurred, including 2 hemorrhagic and 4 ischemic events. Thirty patients (68.2%) had favorable outcomes, and the unfavorable outcomes group showed a higher incidence of ischemic events (P=0.012). An initial poor Hunt–Hess grade (≥IV) was an independent risk factor for unfavorable outcomes (odds ratio 6.35, 95% confidence interval 1.24–32.59; P=0.027). Angiographic follow-up was performed for 34 aneurysms, with complete occlusion achieved in 32 (94.1%); the remaining 2 patients were retreated.
Conclusion
Endovascular management is safe and effective for ruptured VADAs. Anatomical stratification—PAO for non-dominant VA lesions and SAC for dominant VA aneurysms—may help achieve favorable outcomes.
7.Atelocollagen Improves Bone-to-Tendon Interface Healing in a Rabbit Model of Chronic Rotator Cuff Tear Compared with Polydeoxyribonucleotide
Jian HAN ; Zhan-Feng ZHANG ; Shen-Yun FANG ; Yun-Mei CUI ; Sheng Chen HAN
Clinics in Orthopedic Surgery 2026;18(1):167-175
Background:
Surgeons face challenges in selecting cost-effective and biologically active agents for rotator cuff healing, given the numerous commercial products available, such as polydeoxyribonucleotide (PDRN) and atelocollagen (ATC). However, the precise efficacy of PDRN and ATC in rotator cuff healing remains debatable, and there is currently a lack of studies directly comparing the effects of the 2 agents on repaired cuff tendons. Therefore, the purpose of this study was to compare the efficacy of PDRN and ATC on bone-to-tendon interface (BTI) healing using a chronic rotator cuff tear (RCT) model in rabbits.
Methods:
Forty-eight rabbits were randomly divided into 3 groups. To create chronic RCT models, transected tendons were left untreated for 6 weeks, and then were repaired in a transosseous manner with PDRN and ATC injection into the repair site according to group allocation (group A: saline, group B: PDRN, group C: ATC; n = 16 per group). Genetic and immunofluorescence analyses were performed at 4 weeks after surgery. Furthermore, genetic, histologic, and biomechanical analyses were performed at 12 weeks after surgery.
Results:
At 4 weeks after surgery, ATC-injected shoulders showed the highest mRNA expression levels of collagen type I alpha 1 and aggrecan compared to the other 2 groups (p < 0.001 and p = 0.002, respectively). Meanwhile, there was more preliminary fibrocartilaginous matrix formation in the ATC-injected group. At 12 weeks after surgery, ATC-injected shoulders demonstrated better collagen fiber continuity and orientation, denser collagen fibers, a more mature bone-to-tendon junction, and greater fibrocartilage layer formation compared to the other 2 groups (all p < 0.001). Furthermore, ATC-injected shoulders also demonstrated a significantly higher load-to-failure value (40.4 ± 4.5 N/kg) than the remaining groups (group A, 26.7 ± 3.0 N/kg; group B, 32.8 ± 4.2 N/kg; p < 0.001).
Conclusions
ATC demonstrated superior efficacy in promoting BTI healing following surgical repair in a chronic RCT model of rabbits.
8.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.
9.Protective effect of short-chain fatty acids against liver fibrosis and analogical application of its mechanism to pancreatic fibrosis
Yunjun YAN ; Liang SHENG ; Qi WANG ; Shun PENG ; Jia LI ; Lei ZHANG
Journal of Clinical Hepatology 2026;42(5):1160-1165
Short-chain fatty acids (SCFA) are the main metabolic products generated by the fermentation of dietary fiber by gut microbiota. Studies have shown that SCFA not only play a role in energy metabolism, but also act as important signaling molecules, exhibiting a significant potential in alleviating liver and pancreatic fibrosis. The core mechanism of SCFA mainly involves the regulation of various key signaling pathways by activating G protein-coupled receptors and inhibiting the activity of histone deacetylase, thereby suppressing the activation and proliferation of hepatic stellate cell (HSC) and pancreatic stellate cell (PSC), which is a key link in fibrosis formation. In addition, SCFA can effectively alleviate tissue inflammation response, improve intestinal barrier function, and regulate gut microbiota balance, thus indirectly preventing the process of fibrosis mediated by the “gut-liver/pancreas axis”. Compared with the research on SCFA in liver fibrosis, studies on their role in pancreatic fibrosis are limited. Given that HSC and PSC are highly homologous, the transcription factors and proteins that have been confirmed in liver fibrosis-related studies are also similarly expressed in PSC, suggesting that they may also influence the activation of PSC. This article systematically summarizes the recent advances in the research on SCFA in alleviating liver and pancreatic fibrosis, in order to provide new perspectives for exploring the mechanism of pancreatic fibrosis and developing related interventional strategies.
10.Expert Consensus on Clinical Application of Qinbaohong Zhike Oral Liquid in Treatment of Acute Bronchitis and Acute Attack of Chronic Bronchitis
Jian LIU ; Hongchun ZHANG ; Chengxiang WANG ; Hongsheng CUI ; Xia CUI ; Shunan ZHANG ; Daowen YANG ; Cuiling FENG ; Yubo GUO ; Zengtao SUN ; Huiyong ZHANG ; Guangxi LI ; Qing MIAO ; Sumei WANG ; Liqing SHI ; Hongjun YANG ; Ting LIU ; Fangbo ZHANG ; Sheng CHEN ; Wei CHEN ; Hai WANG ; Lin LIN ; Nini QU ; Lei WU ; Dengshan WU ; Yafeng LIU ; Wenyan ZHANG ; Yueying ZHANG ; Yongfen FAN
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(4):182-188
The Expert Consensus on Clinical Application of Qinbaohong Zhike Oral Liquid in Treatment of Acute Bronchitis and Acute Attack of Chronic Bronchitis (GS/CACM 337-2023) was released by the China Association of Chinese Medicine on December 13th, 2023. This expert consensus was developed by experts in methodology, pharmacy, and Chinese medicine in strict accordance with the development requirements of the China Association of Chinese Medicine (CACM) and based on the latest medical evidence and the clinical medication experience of well-known experts in the fields of respiratory medicine (pulmonary diseases) and pediatrics. This expert consensus defines the application of Qinbaohong Zhike oral liquid in the treatment of cough and excessive sputum caused by phlegm-heat obstructing lung, acute bronchitis, and acute attack of chronic bronchitis from the aspects of applicable populations, efficacy evaluation, usage, dosage, drug combination, and safety. It is expected to guide the rational drug use in medical and health institutions, give full play to the unique value of Qinbaohong Zhike oral liquid, and vigorously promote the inheritance and innovation of Chinese patent medicines.


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