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.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.
3.Incidence and Influencing Factors Analysis of Postherpetic Neuralgia in People Over 50 Years Old with Herpes Zoster
Weihong LI ; Jie YU ; Wenying LUO ; Honghui SHENG ; Dihan LU ; Jingjun ZHANG
Journal of Sun Yat-sen University(Medical Sciences) 2026;47(5):938-946
ObjectiveTo investigate the incidence of postherpetic neuralgia (PHN) and its associated risk factors in patients aged ≥50 years with herpes zoster (HZ) who received standard antiviral therapy at the dermatology outpatient clinic of our center. MethodsHZ patients were identified by searching the medical record system using "herpes zoster" as the keyword, and those diagnosed between July 2020 and July 2021. Patients meeting the inclusion criteria were followed up via telephone to retrospectively assess the occurrence of PHN. Patients were divided into a PHN group and a non-PHN group based on the presence of PHN. General patient information (gender, age, and underlying diseases), prodromal pain intensity, and lesion characteristics (area, location, and acute-phase pain intensity) as well as treatment modalities (pharmacotherapy, physical therapy, and combined analgesic therapy) were compared between the two groups. Intergroup comparisons and multifactorial analyses were performed to identify factors associated with the development of PHN in HZ patients. Pain intensity was assessed using the Numerical Rating Scale (NRS) for PHN pain, acute-phase HZ pain, and prodromal pain. Intergroup comparisons were conducted using the chi-square test, Mann-Whitney U test, and t-test. Binary logistic regression was used for multivariate analysis to identify independent risk factors. ResultsA total of 238 HZ patients aged ≥50 years who received standard antiviral therapy were ultimately included, of whom 76 (31.9%) developed PHN. Unifactorial analysis showed that age, lesion area, acute-phase pain intensity, and the use of gabapentin or combined analgesic therapy significantly influenced the occurrence of PHN after HZ (P<0.05). Statistically significant indicators (P<0.05) from the unifactorial analysis and the different analgesic regimens adopted by patients were included in the multifactorial analysis. Multifactorial analysis revealed that lesion area ≥1% (OR=2.501; 95%CI=1.408-4.443; P=0.002<0.05) and acute-phase pain score (OR=1.160; 95%CI=1.028-1.309; P=0.016<0.05) were independent risk factors for PHN. Age and the use of gabapentin or combined analgesic therapy showed no statistically significant association with the occurrence of PHN (P>0.05). ConclusionsIn HZ patients aged ≥50 years receiving standard antiviral therapy, the incidence of PHN is 31.9%. A lesion area ≥1% and higher acute-phase pain NRS scores are identified as independent risk factors for the development of PHN in these patients.
4.Incidence and Influencing Factors Analysis of Postherpetic Neuralgia in People Over 50 Years Old with Herpes Zoster
Weihong LI ; Jie YU ; Wenying LUO ; Honghui SHENG ; Dihan LU ; Jingjun ZHANG
Journal of Sun Yat-sen University(Medical Sciences) 2026;47(5):938-946
ObjectiveTo investigate the incidence of postherpetic neuralgia (PHN) and its associated risk factors in patients aged ≥50 years with herpes zoster (HZ) who received standard antiviral therapy at the dermatology outpatient clinic of our center. MethodsHZ patients were identified by searching the medical record system using "herpes zoster" as the keyword, and those diagnosed between July 2020 and July 2021. Patients meeting the inclusion criteria were followed up via telephone to retrospectively assess the occurrence of PHN. Patients were divided into a PHN group and a non-PHN group based on the presence of PHN. General patient information (gender, age, and underlying diseases), prodromal pain intensity, and lesion characteristics (area, location, and acute-phase pain intensity) as well as treatment modalities (pharmacotherapy, physical therapy, and combined analgesic therapy) were compared between the two groups. Intergroup comparisons and multifactorial analyses were performed to identify factors associated with the development of PHN in HZ patients. Pain intensity was assessed using the Numerical Rating Scale (NRS) for PHN pain, acute-phase HZ pain, and prodromal pain. Intergroup comparisons were conducted using the chi-square test, Mann-Whitney U test, and t-test. Binary logistic regression was used for multivariate analysis to identify independent risk factors. ResultsA total of 238 HZ patients aged ≥50 years who received standard antiviral therapy were ultimately included, of whom 76 (31.9%) developed PHN. Unifactorial analysis showed that age, lesion area, acute-phase pain intensity, and the use of gabapentin or combined analgesic therapy significantly influenced the occurrence of PHN after HZ (P<0.05). Statistically significant indicators (P<0.05) from the unifactorial analysis and the different analgesic regimens adopted by patients were included in the multifactorial analysis. Multifactorial analysis revealed that lesion area ≥1% (OR=2.501; 95%CI=1.408-4.443; P=0.002<0.05) and acute-phase pain score (OR=1.160; 95%CI=1.028-1.309; P=0.016<0.05) were independent risk factors for PHN. Age and the use of gabapentin or combined analgesic therapy showed no statistically significant association with the occurrence of PHN (P>0.05). ConclusionsIn HZ patients aged ≥50 years receiving standard antiviral therapy, the incidence of PHN is 31.9%. A lesion area ≥1% and higher acute-phase pain NRS scores are identified as independent risk factors for the development of PHN in these patients.
5.Update on the treatment navigation for functional cure of chronic hepatitis B: Expert consensus 2.0
Di WU ; Jia-Horng KAO ; Teerha PIRATVISUTH ; Xiaojing WANG ; Patrick T.F. KENNEDY ; Motoyuki OTSUKA ; Sang Hoon AHN ; Yasuhito TANAKA ; Guiqiang WANG ; Zhenghong YUAN ; Wenhui LI ; Young-Suk LIM ; Junqi NIU ; Fengmin LU ; Wenhong ZHANG ; Zhiliang GAO ; Apichat KAEWDECH ; Meifang HAN ; Weiming YAN ; Hong REN ; Peng HU ; Sainan SHU ; Paul Yien KWO ; Fu-sheng WANG ; Man-Fung YUEN ; Qin NING
Clinical and Molecular Hepatology 2025;31(Suppl):S134-S164
As new evidence emerges, treatment strategies toward the functional cure of chronic hepatitis B are evolving. In 2019, a panel of national hepatologists published a Consensus Statement on the functional cure of chronic hepatitis B. Currently, an international group of hepatologists has been assembled to evaluate research since the publication of the original consensus, and to collaboratively develop the updated statements. The 2.0 Consensus was aimed to update the original consensus with the latest available studies, and provide a comprehensive overview of the current relevant scientific literatures regarding functional cure of hepatitis B, with a particular focus on issues that are not yet fully clarified. These cover the definition of functional cure of hepatitis B, its mechanisms and barriers, the effective strategies and treatment roadmap to achieve this endpoint, in particular new surrogate biomarkers used to measure efficacy or to predict response, and the appropriate approach to pursuing a functional cure in special populations, the development of emerging antivirals and immunomodulators with potential for curing hepatitis B. The statements are primarily intended to offer international guidance for clinicians in their practice to enhance the functional cure rate of chronic hepatitis B.
6.Update on the treatment navigation for functional cure of chronic hepatitis B: Expert consensus 2.0
Di WU ; Jia-Horng KAO ; Teerha PIRATVISUTH ; Xiaojing WANG ; Patrick T.F. KENNEDY ; Motoyuki OTSUKA ; Sang Hoon AHN ; Yasuhito TANAKA ; Guiqiang WANG ; Zhenghong YUAN ; Wenhui LI ; Young-Suk LIM ; Junqi NIU ; Fengmin LU ; Wenhong ZHANG ; Zhiliang GAO ; Apichat KAEWDECH ; Meifang HAN ; Weiming YAN ; Hong REN ; Peng HU ; Sainan SHU ; Paul Yien KWO ; Fu-sheng WANG ; Man-Fung YUEN ; Qin NING
Clinical and Molecular Hepatology 2025;31(Suppl):S134-S164
As new evidence emerges, treatment strategies toward the functional cure of chronic hepatitis B are evolving. In 2019, a panel of national hepatologists published a Consensus Statement on the functional cure of chronic hepatitis B. Currently, an international group of hepatologists has been assembled to evaluate research since the publication of the original consensus, and to collaboratively develop the updated statements. The 2.0 Consensus was aimed to update the original consensus with the latest available studies, and provide a comprehensive overview of the current relevant scientific literatures regarding functional cure of hepatitis B, with a particular focus on issues that are not yet fully clarified. These cover the definition of functional cure of hepatitis B, its mechanisms and barriers, the effective strategies and treatment roadmap to achieve this endpoint, in particular new surrogate biomarkers used to measure efficacy or to predict response, and the appropriate approach to pursuing a functional cure in special populations, the development of emerging antivirals and immunomodulators with potential for curing hepatitis B. The statements are primarily intended to offer international guidance for clinicians in their practice to enhance the functional cure rate of chronic hepatitis B.
7.Developing a polygenic risk score for pelvic organ prolapse: a combined risk assessment approach in Chinese women.
Xi CHENG ; Lei LI ; Xijuan LIN ; Na CHEN ; Xudong LIU ; Yaqian LI ; Zhaoai LI ; Jian GONG ; Qing LIU ; Yuling WANG ; Juntao WANG ; Zhijun XIA ; Yongxian LU ; Hangmei JIN ; Xiaowei ZHANG ; Luwen WANG ; Juan CHEN ; Guorong FAN ; Shan DENG ; Sen ZHAO ; Lan ZHU
Frontiers of Medicine 2025;19(4):665-674
Pelvic organ prolapse (POP), whose etiology is influenced by genetic and clinical risk factors, considerably impacts women's quality of life. However, the genetic underpinnings in non-European populations and comprehensive risk models integrating genetic and clinical factors remain underexplored. This study constructed the first polygenic risk score (PRS) for POP in the Chinese population by utilizing 20 disease-associated variants from the largest existing genome-wide association study. We analyzed a discovery cohort of 576 cases and 623 controls and a validation cohort of 264 cases and 200 controls. Results showed that the case group exhibited a significantly higher PRS than the control group. Moreover, the odds ratio of the top 10% risk group was 2.6 times higher than that of the bottom 10%. A high PRS was significantly correlated with POP occurrence in women older than 50 years old and in those with one or no childbirths. As far as we know, the integrated prediction model, which combined PRS and clinical risk factors, demonstrated better predictive accuracy than other existing PRS models. This combined risk assessment model serves as a robust tool for POP risk prediction and stratification, thereby offering insights into individualized preventive measures and treatment strategies in future clinical practice.
Humans
;
Female
;
Pelvic Organ Prolapse/epidemiology*
;
Middle Aged
;
Risk Assessment/methods*
;
China/epidemiology*
;
Multifactorial Inheritance
;
Aged
;
Risk Factors
;
Genome-Wide Association Study
;
Genetic Predisposition to Disease
;
Case-Control Studies
;
Adult
;
Polymorphism, Single Nucleotide
;
Genetic Risk Score
;
East Asian People
8.International clinical practice guideline on the use of traditional Chinese medicine for functional dyspepsia (2025).
Sheng-Sheng ZHANG ; Lu-Qing ZHAO ; Xiao-Hua HOU ; Zhao-Xiang BIAN ; Jian-Hua ZHENG ; Hai-He TIAN ; Guan-Hu YANG ; Won-Sook HONG ; Yu-Ying HE ; Li LIU ; Hong SHEN ; Yan-Ping LI ; Sheng XIE ; Jin SHU ; Bin-Fang ZENG ; Jun-Xiang LI ; Zhen LIU ; Zheng-Hua XIAO ; Jing-Dong XIAO ; Pei-Yong ZHENG ; Shao-Gang HUANG ; Sheng-Liang CHEN ; Gui-Jun FEI
Journal of Integrative Medicine 2025;23(5):502-518
Functional dyspepsia (FD), characterized by persistent or recurrent dyspeptic symptoms without identifiable organic, systemic or metabolic causes, is an increasingly recognized global health issue. The objective of this guideline is to equip clinicians and nursing professionals with evidence-based strategies for the management and treatment of adult patients with FD using traditional Chinese medicine (TCM). The Guideline Development Group consulted existing TCM consensus documents on FD and convened a panel of 35 clinicians to generate initial clinical queries. To address these queries, a systematic literature search was conducted across PubMed, EMBASE, the Cochrane Library, China National Knowledge Infrastructure (CNKI), VIP Database, China Biology Medicine (SinoMed) Database, Wanfang Database, Traditional Medicine Research Data Expanded (TMRDE), and the Traditional Chinese Medical Literature Analysis and Retrieval System (TCMLARS). The evidence from the literature was critically appraised using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) approach. The strength of the recommendations was ascertained through a consensus-building process involving TCM and allopathic medicine experts, methodologists, pharmacologists, nursing specialists, and health economists, leveraging their collective expertise and empirical knowledge. The guideline comprises a total of 43 evidence-informed recommendations that span a range of clinical aspects, including the pathogenesis according to TCM, diagnostic approaches, therapeutic interventions, efficacy assessments, and prognostic considerations. Please cite this article as: Zhang SS, Zhao LQ, Hou XH, Bian ZX, Zheng JH, Tian HH, Yang GH, Hong WS, He YY, Liu L, Shen H, Li YP, Xie S, Shu J, Zeng BF, Li JX, Liu Z, Xiao ZH, Xiao JD, Zheng PY, Huang SG, Chen SL, Fei GJ. International clinical practice guideline on the use of traditional Chinese medicine for functional dyspepsia (2025). J Integr Med. 2025; 23(5):502-518.
Dyspepsia/drug therapy*
;
Humans
;
Medicine, Chinese Traditional/methods*
;
Practice Guidelines as Topic
;
Drugs, Chinese Herbal/therapeutic use*
9.Current status of generalized pustular psoriasis: Findings from a multicenter hospital-based survey of 127 Chinese patients.
Haimeng WANG ; Jiaming XU ; Xiaoling YU ; Siyu HAO ; Xueqin CHEN ; Bin PENG ; Xiaona LI ; Ping WANG ; Chaoyang MIAO ; Jinzhu GUO ; Qingjie HU ; Zhonglan SU ; Sheng WANG ; Chen YU ; Qingmiao SUN ; Minkuo ZHANG ; Bin YANG ; Yuzhen LI ; Zhiqiang SONG ; Songmei GENG ; Aijun CHEN ; Zigang XU ; Chunlei ZHANG ; Qianjin LU ; Yan LU ; Xian JIANG ; Gang WANG ; Hong FANG ; Qing SUN ; Jie LIU ; Hongzhong JIN
Chinese Medical Journal 2025;138(8):953-961
BACKGROUND:
Generalized pustular psoriasis (GPP), a rare and recurrent autoinflammatory disease, imposes a substantial burden on patients and society. Awareness of GPP in China remains limited.
METHODS:
This cross-sectional survey, conducted between September 2021 and May 2023 across 14 hospitals in China, included GPP patients of all ages and disease phases. Data collected encompassed demographics, clinical characteristics, economic impact, disease severity, quality of life, and treatment-related complications. Risk factors for GPP recurrence were analyzed.
RESULTS:
Among 127 patients (female/male ratio = 1.35:1), the mean age of disease onset was 25 years (1st quartile [Q1]-3rd quartile [Q3]: 11-44 years); 29.2% had experienced GPP for more than 10 years. Recurrence occurred in 75.6% of patients, and nearly half reported no identifiable triggers. Younger age at disease onset ( P = 0.021) and transitioning to plaque psoriasis ( P = 0.022) were associated with higher recurrence rates. The median diagnostic delay was 8 months (Q1-Q3: 2-41 months), and 32.3% of patients reported misdiagnoses. Comorbidities were present in 53.5% of patients, whereas 51.1% experienced systemic complications during treatment. Depression and anxiety affected 84.5% and 95.6% of patients, respectively. During GPP flares, the median Dermatology Life Quality Index score was 19.0 (Q1-Q3: 13.0-23.5). This score showed significant differences between patients with and without systemic symptoms; it demonstrated correlations with both depression and anxiety scores. Treatment costs caused financial hardship in 55.9% of patients, underscoring the burden associated with GPP.
CONCLUSIONS
The substantial disease and economic burdens among Chinese GPP patients warrant increased attention. Patients with early onset disease and those transitioning to plaque psoriasis require targeted interventions to mitigate the high recurrence risk.
Humans
;
Male
;
Female
;
Psoriasis/pathology*
;
Adult
;
Cross-Sectional Studies
;
Adolescent
;
Child
;
Young Adult
;
Quality of Life
;
Middle Aged
;
China/epidemiology*
;
Recurrence
;
Risk Factors
;
Surveys and Questionnaires
;
East Asian People
10.Update on the treatment navigation for functional cure of chronic hepatitis B: Expert consensus 2.0
Di WU ; Jia-Horng KAO ; Teerha PIRATVISUTH ; Xiaojing WANG ; Patrick T.F. KENNEDY ; Motoyuki OTSUKA ; Sang Hoon AHN ; Yasuhito TANAKA ; Guiqiang WANG ; Zhenghong YUAN ; Wenhui LI ; Young-Suk LIM ; Junqi NIU ; Fengmin LU ; Wenhong ZHANG ; Zhiliang GAO ; Apichat KAEWDECH ; Meifang HAN ; Weiming YAN ; Hong REN ; Peng HU ; Sainan SHU ; Paul Yien KWO ; Fu-sheng WANG ; Man-Fung YUEN ; Qin NING
Clinical and Molecular Hepatology 2025;31(Suppl):S134-S164
As new evidence emerges, treatment strategies toward the functional cure of chronic hepatitis B are evolving. In 2019, a panel of national hepatologists published a Consensus Statement on the functional cure of chronic hepatitis B. Currently, an international group of hepatologists has been assembled to evaluate research since the publication of the original consensus, and to collaboratively develop the updated statements. The 2.0 Consensus was aimed to update the original consensus with the latest available studies, and provide a comprehensive overview of the current relevant scientific literatures regarding functional cure of hepatitis B, with a particular focus on issues that are not yet fully clarified. These cover the definition of functional cure of hepatitis B, its mechanisms and barriers, the effective strategies and treatment roadmap to achieve this endpoint, in particular new surrogate biomarkers used to measure efficacy or to predict response, and the appropriate approach to pursuing a functional cure in special populations, the development of emerging antivirals and immunomodulators with potential for curing hepatitis B. The statements are primarily intended to offer international guidance for clinicians in their practice to enhance the functional cure rate of chronic hepatitis B.

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