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.Thoughts and Practices on the Development of Forensic Medicine Discipline in the Perspective of Building a Regional High-Level Medical University
Guang CHEN ; Rong-Shuai WANG ; Li SU ; Yue ZHANG ; Xue-Xia LIU ; Shi-Yong FANG ; Zhan-Zhan LIU ; Ya-Jun XU ; Xiang XU
Journal of Forensic Medicine 2025;41(1):35-39
Under the background of forensic medicine becoming a first-level discipline,the opportuni-ties and challenges of discipline development coexist.Starting from the actual situation and characteris-tics of local medical colleges and universities,this paper discusses the problems and solutions for the development of forensic medicine discipline from the perspective of building a regional high-level medical university.Combined with the experiences of carrying out forensic medicine education in our college,this paper supplies our thoughts and practices on improving the discipline system,enhancing the ability to serve society,perfecting the talent cultivation model and promoting forensic culture,to provide reference and inspiration for the development of forensic medicine in other universities,jointly promote the advancement of forensic medicine in China to a new stage,and contribute the wisdom and strength of forensic medical experts to the construction of a law-based China,a safe China and a healthy China.
3.Clinical guideline for diagnosis and treatment of nonunion of osteoporotic vertebral fractures (version 2025)
Haipeng SI ; Le LI ; Junjie NIU ; Wencan ZHANG ; Fuxin WEI ; Jinqiu YUAN ; Qiang YANG ; Hongli WANG ; Guangchao WANG ; Shihong CHEN ; Yunzhen CHEN ; Xiaoguang CHENG ; Jianwen DONG ; Shiqing FENG ; Rui GU ; Yong HAI ; Tianyong HOU ; Bo HUANG ; Xiaobing JIANG ; Lei ZANG ; Chunhai LI ; Nianhu LI ; Hua LIN ; Hongjian LIU ; Peng LIU ; Xinyu LIU ; Sheng LU ; Shibao LU ; Chunshan LUO ; Lvy CHAOLIANG ; Lvy WEIJIA ; Xuexiao MA ; Wei MEI ; Chunyang MENG ; Cailiang SHEN ; Chunli SONG ; Ruoxian SONG ; Jiacan SU ; Honglin TENG ; Hui SHENG ; Beiyu WANG ; Bingwu WANG ; Liang WANG ; Xiangyang WANG ; Nan WU ; Guohua XU ; Yayi XIA ; Jin XU ; Youjia XU ; Jianzhong XU ; Cao YANG ; Maowei YANG ; Zibin YANG ; Xiaojian YE ; Hailong YU ; Xijie YU ; Hua YUE ; Zhili ZENG ; Xinli ZHAN ; Hui ZHANG ; Peixun ZHANG ; Wei ZHANG ; Zhenlin ZHANG ; Jianguo ZHANG ; Tengyue ZHU ; Qiang LIU ; Huilin YANG
Chinese Journal of Trauma 2025;41(10):932-945
Nonunion of osteoporotic vertebral fractures (OVF), predominantly affecting the elderly, can lead to intractable pain, vertebral collapse, progressive kyphotic deformity, and neurological impairment, significantly compromising patients′ quality of life. There exists considerable debate on diagnosis and management of OVF, encompassing key issues such as clinical diagnosis and staging criteria for nonunion, surgical indications and procedure selection, and postoperative rehabilitation planning. Currently, there lacks standardized clinical guideline and expert consensus on the diagnosis and management of OVF nonunion in China. To address this gap, Minimally Invasive Surgery Group of Chinese Orthopedic Association, Osteoporosis Committee of Chinese Association of Orthopedic Surgeons, Prevention and Rehabilitation Committee for Osteoporosis of Chinese Association of Rehabilitation Medicine and Minimally Invasive Orthopedic Surgery Branch of China Association for Geriatric Care jointly organized domestic experts in spinal surgery, endocrinology, and rehabilitation to formulate the Clinical guideline for the diagnosis and treatment for nonunion of osteoporotic vertebral fractures ( version 2025), based on existing literature and clinical experience and adhering to principles of scientific rigor and practicality. The guideline provided 13 evidence-based recommendations encompassing diagnosis and treatment of OVF nonunion, aiming to standardize its clinical management.
4.Effects of Different Microbial Fertilizers on Physiology and Rhizosphere Soil Environment of Codonopsis pilosula
Xia JIANG ; Junxi ZHAO ; Panpan SHI ; Xiaoxuan WANG ; Chenhui DU ; Shuosheng ZHANG ; Haixian ZHAN
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(13):241-251
ObjectiveTo study the effects of applying different microbial fertilizers on the growth and rhizosphere soil environment of Codonopsis pilosula and provide a theoretical basis for ecological cultivation of this medicinal plant. MethodsSeven groups were designed, including CK (no application of microbial fertilizer), T1 (Trichoderma longibrachiatum fertilizer), T2 (Bacillus subtilis fertilizer), T3 (Trichoderma viride fertilizer), T4 (compound microbial fertilizer), T5 (C. pilosula stems and leaves fermented with compound microbial fertilizer), and T6 (Scutellaria baicalensis stems and leaves fermented with T. viride fertilizer). The physiological indicators, yield, and quality of C. pilosula and the physicochemical properties, enzyme activities, and microbial diversity in the rhizosphere soil of different fertilizer treatments were measured. ResultsGroup T1 showed slight decreases in soluble protein content (SPC) and superoxide dismutase (SOD). Groups T2-T6 showed increases in physiological indicators such as proline (Pro), soluble solids content (SSC), SPC, catalase (CAT), and peroxidase (POD) and a decrease in malondialdehyde (MDA) in C. pilosula leaves. All the fertilizer treatments increased the yield of C. pilosula and the total polysaccharide content in the roots. T1, T2, T3, T4, and T5 increased the total flavonoid content in the roots. Meanwhile, T4 increased the total saponin content in the roots. All the fertilizer treatments reduced the pH and increased the electric conductivity (EC), soil organic matter (SOM), and alkaline nitrogen (AN) in the soil. T2 and T5 increased the available phosphorus (AP), and T3, T4, T5, and T6 increased the available potassium (AK) in the soil. All the fertilizer treatments increased the activities of urease, sucrase, and CAT in the soil. Except that T1 decreased the bacterial diversity in the soil, other fertilizer treatments significantly increased bacterial and fungal diversity in the soil. Different fertilizer treatments significantly affected the composition of bacterial and fungal communities in the soil. At the phylum level, the dominant bacterial phyla included Proteobacteria, Acidobacteriota, and Bacteroideta, and the dominant fungal phyla were Ascomycota, Mortierellomycota, and unclassified_fungi in the rhizosphere soil of C. pilosula after bacterial fertilizer treatment. At the genus level, unclassified Gemmatimonadaceae, Sphingomonas, and unclassified Vicinamibacteraceae were the dominant bacterial genera, while unidentified, unclassified Fungi, and unclassified Sordariomycetes were the dominant fungal genera in the rhizosphere soil. The results of redundancy analysis indicated that the main physicochemical factors affecting changes of microbial communities in the rhizosphere soil of C. pilosula were pH, EC, AK, AN, AP, and soil organic matter (SOM) in the soil. The correlation heatmap showed that Bryobacter had significantly positive correlations with EC, AK, and AN. There was a significantly negative correlation between Fusarium and SOM. In summary, applying an appropriate amount of microbial fertilizer can promote the growth and improve the rhizosphere soil environment of C. pilosula. ConclusionThe compound microbial fertilizer and the C. pilosula stems and leaves fermented with compound microbial fertilizer can improve the soil nutrients, growth, development, yield, and quality of C. pilosula, and thus they can be applied to the artificial cultivation of C. pilosula.
5.Effects of Different Microbial Fertilizers on Physiology and Rhizosphere Soil Environment of Codonopsis pilosula
Xia JIANG ; Junxi ZHAO ; Panpan SHI ; Xiaoxuan WANG ; Chenhui DU ; Shuosheng ZHANG ; Haixian ZHAN
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(13):241-251
ObjectiveTo study the effects of applying different microbial fertilizers on the growth and rhizosphere soil environment of Codonopsis pilosula and provide a theoretical basis for ecological cultivation of this medicinal plant. MethodsSeven groups were designed, including CK (no application of microbial fertilizer), T1 (Trichoderma longibrachiatum fertilizer), T2 (Bacillus subtilis fertilizer), T3 (Trichoderma viride fertilizer), T4 (compound microbial fertilizer), T5 (C. pilosula stems and leaves fermented with compound microbial fertilizer), and T6 (Scutellaria baicalensis stems and leaves fermented with T. viride fertilizer). The physiological indicators, yield, and quality of C. pilosula and the physicochemical properties, enzyme activities, and microbial diversity in the rhizosphere soil of different fertilizer treatments were measured. ResultsGroup T1 showed slight decreases in soluble protein content (SPC) and superoxide dismutase (SOD). Groups T2-T6 showed increases in physiological indicators such as proline (Pro), soluble solids content (SSC), SPC, catalase (CAT), and peroxidase (POD) and a decrease in malondialdehyde (MDA) in C. pilosula leaves. All the fertilizer treatments increased the yield of C. pilosula and the total polysaccharide content in the roots. T1, T2, T3, T4, and T5 increased the total flavonoid content in the roots. Meanwhile, T4 increased the total saponin content in the roots. All the fertilizer treatments reduced the pH and increased the electric conductivity (EC), soil organic matter (SOM), and alkaline nitrogen (AN) in the soil. T2 and T5 increased the available phosphorus (AP), and T3, T4, T5, and T6 increased the available potassium (AK) in the soil. All the fertilizer treatments increased the activities of urease, sucrase, and CAT in the soil. Except that T1 decreased the bacterial diversity in the soil, other fertilizer treatments significantly increased bacterial and fungal diversity in the soil. Different fertilizer treatments significantly affected the composition of bacterial and fungal communities in the soil. At the phylum level, the dominant bacterial phyla included Proteobacteria, Acidobacteriota, and Bacteroideta, and the dominant fungal phyla were Ascomycota, Mortierellomycota, and unclassified_fungi in the rhizosphere soil of C. pilosula after bacterial fertilizer treatment. At the genus level, unclassified Gemmatimonadaceae, Sphingomonas, and unclassified Vicinamibacteraceae were the dominant bacterial genera, while unidentified, unclassified Fungi, and unclassified Sordariomycetes were the dominant fungal genera in the rhizosphere soil. The results of redundancy analysis indicated that the main physicochemical factors affecting changes of microbial communities in the rhizosphere soil of C. pilosula were pH, EC, AK, AN, AP, and soil organic matter (SOM) in the soil. The correlation heatmap showed that Bryobacter had significantly positive correlations with EC, AK, and AN. There was a significantly negative correlation between Fusarium and SOM. In summary, applying an appropriate amount of microbial fertilizer can promote the growth and improve the rhizosphere soil environment of C. pilosula. ConclusionThe compound microbial fertilizer and the C. pilosula stems and leaves fermented with compound microbial fertilizer can improve the soil nutrients, growth, development, yield, and quality of C. pilosula, and thus they can be applied to the artificial cultivation of C. pilosula.
6.eIF3a function in immunity and protection against severe sepsis by regulating B cell quantity and function through m6A modification.
Qianying OUYANG ; Jiajia CUI ; Yang WANG ; Ke LIU ; Yan ZHAN ; Wei ZHUO ; Juan CHEN ; Honghao ZHOU ; Chenhui LUO ; Jianming XIA ; Liansheng WANG ; Chengxian GUO ; Jianting ZHANG ; Zhaoqian LIU ; Jiye YIN
Acta Pharmaceutica Sinica B 2025;15(3):1571-1588
eIF3a is a N 6-methyladenosine (m6A) reader that regulates mRNA translation by recognizing m6A modifications of these mRNAs. It has been suggested that eIF3a may play an important role in regulating translation initiation via m6A during infection when canonical cap-dependent initiation is inhibited. However, the death of animal model studies impedes our understanding of the functional significance of eIF3a in immunity and regulation in vivo. In this study, we investigated the in vivo function of eIF3a using eIF3a knockout and knockdown mouse models and found that eIF3a deficiency resulted in splenic tissue structural disruption and multi-organ damage, which contributed to severe sepsis induced by Lipopolysaccharide (LPS). Ectopic eIF3a overexpression in the eIF3a knockdown mice rescued mice from LPS-induced severe sepsis. We further showed that eIF3a maintains a functional and healthy immune system by regulating B cell function and quantity through m6A modification of mRNAs. These findings unveil a novel mechanism underlying sepsis, implicating the pivotal role of B cells in this complex disease process regulated by eIF3a. Furthermore, eIF3a may be used to develop a potential strategy for treating sepsis.
7.Research status of autophagy in the pathogenesis of rheumatoid arthritis
Wen-xia QI ; Gang WANG ; Yan-feng YAN ; Jie-xiang TIAN ; Tao WANG ; Yong WEI ; Zhan-dong WANG ; Yuan-yuan ZHANG
The Chinese Journal of Clinical Pharmacology 2025;41(2):264-268
With the deepening of molecular biology and cell biology research,the regulatory mechanism of autophagy has been gradually revealed,providing new ideas for the treatment of numerous diseases.Autophagy may be closely related to pathological changes such as apoptosis resistance of fibroblast-like synoviocytes,disturbances in bone metabolic homeostasis,and antigen presentation,the regulation of autophagy homeostasis may be an important approach for the treatment of rheumatoid arthritis(RA).In this paper,we provide a review on the pathological mechanism of autophagy in RA,with a view to providing a theoretical basis for later studies.
8.Arthroscopic single-row fixation and knotless suture bridge fixation for rotator cuff injuries combined with osteoporosis
Haoliang ZHANG ; Sijia XIA ; Bingzhen ZHAN ; Shuo FENG ; Guochun ZHA ; Cheng LI
Chinese Journal of Tissue Engineering Research 2025;29(15):3188-3192
BACKGROUND:Arthroscopic single-row fixation with knotless suture bridge fixation techniques have been commonly used in the treatment of rotator cuff injuries,but the clinical efficacy in rotator cuff injuries combined with osteoporosis is unclear.OBJECTIVE:To investigate the clinical efficacy of arthroscopic single-row fixation versus knotless suture bridge fixation in the treatment of rotator cuff injuries combined with osteoporosis.METHODS:One hundred and twenty-two patients with rotator cuff injuries combined with osteoporosis who underwent arthroscopic treatment admitted to Affiliated Hospital of Xuzhou Medical University between January 2018 and August 2022 were retrospectively analyzed.They were divided into two groups according to the treatment plan.There were 63 patients with single-row fixation(single-row group)and 59 patients with knotless suture-bridge fixation(suture-bridge group).The visual analog scale scores for pain,University of California Los Angeles Shoulder Score,American Shoulder and Elbow Surgeons Score,Constant-Murley score,and shoulder range of motion were compared between the two groups at the preoperative and 1 year postoperative periods.Rotator cuff re-tears were evaluated at 1 year postoperatively using the Sugaya staging criteria.The occurrence of complications was recorded in both groups.RESULTS AND CONCLUSION:(1)All patients received more than 1-year follow-up.No complications such as incision infection and nerve injury occurred in both groups after surgery.(2)Postoperative visual analog scale scores,University of California Los Angeles Shoulder Score,American Shoulder and Elbow Surgeons Score,Constant-Murley scores,and shoulder range of motion were significantly improved 1 year postoperatively in both groups compared with the preoperative period(P<0.05).Visual analog scale scores,University of California Los Angeles Shoulder Score,American Shoulder and Elbow Surgeons Score,Constant-Murley scores,and shoulder range of motion were better in the suture-bridge group than in the single-row group 1 year postoperatively(P<0.05).(3)At 1 year postoperatively,the re-tear rate in the single-row group[22%(14/63)]was significantly higher than that in the suture-bridge group[7%(4/59)],and the difference between the two groups was statistically significant(x2=5.777,P=0.016).(4)It is indicated that arthroscopic single-row fixation and knotless suture bridge fixation for rotator cuff injuries combined with osteoporosis both yielded satisfactory clinical outcomes,but knotless suture bridge fixation was more clinically effective,with a lower rate of postoperative retear.
9.Research status of autophagy in the pathogenesis of rheumatoid arthritis
Wen-xia QI ; Gang WANG ; Yan-feng YAN ; Jie-xiang TIAN ; Tao WANG ; Yong WEI ; Zhan-dong WANG ; Yuan-yuan ZHANG
The Chinese Journal of Clinical Pharmacology 2025;41(2):264-268
With the deepening of molecular biology and cell biology research,the regulatory mechanism of autophagy has been gradually revealed,providing new ideas for the treatment of numerous diseases.Autophagy may be closely related to pathological changes such as apoptosis resistance of fibroblast-like synoviocytes,disturbances in bone metabolic homeostasis,and antigen presentation,the regulation of autophagy homeostasis may be an important approach for the treatment of rheumatoid arthritis(RA).In this paper,we provide a review on the pathological mechanism of autophagy in RA,with a view to providing a theoretical basis for later studies.
10.Arthroscopic single-row fixation and knotless suture bridge fixation for rotator cuff injuries combined with osteoporosis
Haoliang ZHANG ; Sijia XIA ; Bingzhen ZHAN ; Shuo FENG ; Guochun ZHA ; Cheng LI
Chinese Journal of Tissue Engineering Research 2025;29(15):3188-3192
BACKGROUND:Arthroscopic single-row fixation with knotless suture bridge fixation techniques have been commonly used in the treatment of rotator cuff injuries,but the clinical efficacy in rotator cuff injuries combined with osteoporosis is unclear.OBJECTIVE:To investigate the clinical efficacy of arthroscopic single-row fixation versus knotless suture bridge fixation in the treatment of rotator cuff injuries combined with osteoporosis.METHODS:One hundred and twenty-two patients with rotator cuff injuries combined with osteoporosis who underwent arthroscopic treatment admitted to Affiliated Hospital of Xuzhou Medical University between January 2018 and August 2022 were retrospectively analyzed.They were divided into two groups according to the treatment plan.There were 63 patients with single-row fixation(single-row group)and 59 patients with knotless suture-bridge fixation(suture-bridge group).The visual analog scale scores for pain,University of California Los Angeles Shoulder Score,American Shoulder and Elbow Surgeons Score,Constant-Murley score,and shoulder range of motion were compared between the two groups at the preoperative and 1 year postoperative periods.Rotator cuff re-tears were evaluated at 1 year postoperatively using the Sugaya staging criteria.The occurrence of complications was recorded in both groups.RESULTS AND CONCLUSION:(1)All patients received more than 1-year follow-up.No complications such as incision infection and nerve injury occurred in both groups after surgery.(2)Postoperative visual analog scale scores,University of California Los Angeles Shoulder Score,American Shoulder and Elbow Surgeons Score,Constant-Murley scores,and shoulder range of motion were significantly improved 1 year postoperatively in both groups compared with the preoperative period(P<0.05).Visual analog scale scores,University of California Los Angeles Shoulder Score,American Shoulder and Elbow Surgeons Score,Constant-Murley scores,and shoulder range of motion were better in the suture-bridge group than in the single-row group 1 year postoperatively(P<0.05).(3)At 1 year postoperatively,the re-tear rate in the single-row group[22%(14/63)]was significantly higher than that in the suture-bridge group[7%(4/59)],and the difference between the two groups was statistically significant(x2=5.777,P=0.016).(4)It is indicated that arthroscopic single-row fixation and knotless suture bridge fixation for rotator cuff injuries combined with osteoporosis both yielded satisfactory clinical outcomes,but knotless suture bridge fixation was more clinically effective,with a lower rate of postoperative retear.

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