1.Clinical and genetic analysis of a child with 46,XX male phenotype due to SOX3 gene duplication.
Xiou WANG ; Fuying SONG ; Ziqin LIU ; Pengchao WANG ; Mu DU ; Yi SONG ; Shuyue HUANG ; Bingyan CHAO
Chinese Journal of Medical Genetics 2026;43(1):50-56
OBJECTIVE:
To summarize the clinical and genetic characteristics of a child with 46,XX Ovotesticular disorder of sex development (46,XX OTDSD) due to copy number variation of SOX3 gene.
METHODS:
A 46,XX male patient presented at the Capital Center for Children's Health, Capital Medical University in November 2024 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples were taken from the child and his parents and subjected to trio whole-genome sequencing. Skewed X-chromosome inactivation was tested in the child and his mother. A literature review was carried out on 46,XX males associated with mutations of the SOX3 gene. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: SHERLL2025056).
RESULTS:
The 10-year-old boy presented with hypospadias and cryptorchidism at birth. Chromosome analysis at one year and a half revealed a 46,XX karyotype. Gonadal biopsy showed testicular tissue, while ultrasound at the age of 10 detected ovotesticular tissue. Whole-genome sequencing identified a 660 kb duplication in the Xq27.1 region, which was derived from his mother. X-chromosome inactivation testing showed random inactivation in the child and mild non-random inactivation in the mother. Literature review has found 11 publications involving 15 patients (including our case), among whom 14 had a male social gender. They had primarily presented with hypospadias at birth but had no significant endocrine abnormalities. Most patients had experienced testicular failure after puberty. SOX3 related 46,XX males are mainly caused by de novo duplications, although a few maternal carriers had been discovered.
CONCLUSION
Duplication of the SOX3 gene probably underlay the pathogenesis is this 46,XX male. Individuals with 46,XX SRY negative male phenotypes should be routinely screened for SOX3 gene variants. Structural variations of the SOX3 gene can lead to complete or partial sex reversal in 46,XX individuals with minimal impact on intellectual and motor development, as well as other endocrine hormones.
Child
;
Humans
;
Male
;
46, XX Disorders of Sex Development/genetics*
;
DNA Copy Number Variations
;
Gene Duplication
;
Phenotype
;
SOXB1 Transcription Factors/genetics*
2.Mechanism of ductular reaction and related treatment strategies
Jiayan SHAN ; Huaqian XU ; Chengzhi BAI ; Liang ZHANG ; Chao DU ; Yong ZHANG ; Shanhong TANG
Journal of Clinical Hepatology 2026;42(3):733-738
Ductular reaction (DR) refers to the adaptive pathological changes that occur after hepatobiliary injury, and it is essentially a repair response involving the proliferation, fibrosis, and inflammation of biliary epithelial cell (BEC). With the understanding of the biological function of BEC, the potential value of DR in disease prognosis and treatment has gradually become a research hotspot. This article systematically reviews the molecular mechanism of DR, its potential as a therapeutic target, and future development directions, as well as novel therapies suggested by targeting these molecular mechanisms, in order to provide a new direction for overcoming current bottlenecks in the treatment of bile duct diseases.
3.Guidelines for endoscopic and robotic breast surgery in China (2026 edition): Part one
Zhenggui DU ; Qing LÜ ; ; Pengwei LÜ ; ; Dajiang SONG ; Zihan WANG ; Benlong YANG ; Shicheng SU
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2026;33(02):167-203
Recent research from the International Agency for Research on Cancer (IARC) of the World Health Organization (WHO) indicates that breast cancer is the most prevalent malignant tumor among women, posing a significant threat to women's health. Surgery remains the primary therapeutic modality for breast cancer. Recently, endoscopic and robotic breast surgical techniques have gained acceptance among both surgeons and patients. However, considerable variation exists in surgical approaches and outcomes. To standardize these techniques, facilitate their broader clinical adoption, and ultimately improve patient care, the Endoscopic-robotic Breast Surgery Clinical Trials Consortium (ErBSCTC) of China has developed this guideline. This document encompasses the technologies and instrumentation utilized in endoscopic and robotic breast surgery, surgical techniques, perioperative management, complication handling, long-term follow-up, and oncologic outcomes, aiming to provide evidence-based guidance for healthcare professionals involved in the prevention, diagnosis, and treatment of breast diseases.
4.Protocol for China endoscopic and robotic breast surgery guidelines (2026 edition)
Zhenggui DU ; Qing LÜ ; ; Pengwei LÜ ; ; Dajiang SONG ; Zihan WANG ; Benlong YANG ; Shicheng SU
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2026;33(03):333-338
Breast cancer is the most common malignant tumor among women in China, with surgery being one of the primary treatment modalities. Endoscopic/robotic breast surgery (ErBS) is gaining widespread acceptance among patients and surgeons alike due to its advantages of minimal invasiveness, superior cosmetic outcomes, and accelerated recovery. However, substantial heterogeneity currently exists across China regarding patient selection, standardized operative techniques, perioperative management, and complication handling, underscoring the urgent need for evidence-based consensus guidelines. To promote standardization and ensure consistent quality of ErBS, the Chinese Endoscopic-Robotic Breast Surgery Clinical Trials Consortium (CErBSCTC) has systematically reviewed the latest high-quality evidence and formulated the "Protocol for China Endoscopic and Robotic Breast Surgery Guidelines (2026 edition)", which outlines a comprehensive methodology for guideline development.
5.Guidelines for endoscopic and robotic breast surgery in China (2026 edition): Part two
Zhenggui DU ; Qing LÜ ; ; Pengwei LÜ ; ; Dajiang SONG ; Zihan WANG ; Benlong YANG ; Shicheng SU
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2026;33(04):487-521
This guideline, presented in three parts, details the core aspects of endoscopic/robotic breast surgery, including its techniques, equipment, surgical procedures, perioperative management, complication treatment, long-term follow-up, and outcomes. Part one offered a comprehensive overview of indications for endoscopic and robotic breast surgery, intraoperative techniques, surgical instrument choices, and common endoscopic and robotic breast reconstruction procedures. This part will cover other endoscopic breast procedures beyond immediate breast reconstruction and include perioperative management strategies, to provide healthcare professionals involved in endoscopic and robotic breast surgery with systematic operational guidelines and clinical decision-making references.
6.Treatment of 149 cases of large-volume benign prostatic hyperplasia with blue laser vaporization
Haifeng CHENG ; Chao WANG ; Quan DU ; Guoxiong LIU ; Zhenwei FAN ; Xiaoliang FU ; Nan LI ; Wanglong YUN ; Xiaofeng XU
Journal of Modern Urology 2026;31(5):443-445
Objective To explore the efficacy and safety of blue laser vaporization in the treatment of large-volume (>80 mL) benign prostatic hyperplasia (BPH). Methods A retrospective analysis was conducted on the clinical data of 149 BPH patients with prostate volume>80 mL who underwent blue laser vaporization at our hospital during Aug. 2023 and Aug. 2025. The 1-month postoperative maximum urinary flow rate (Qmax) and international prostate symptom score (IPSS), operation time, postoperative hemoglobin drop, bladder irrigation volume, catheter indwelling time, and incidence of postoperative complications were recorded and analyzed. Results All operations were successfully completed, without conversion to other approaches. The operation time was (41.47±11.05) minutes, postoperative hemoglobin drop (2.78±1.19) g/L, bladder irrigation volume (9.97±1.49) bags, and catheter indwelling time (3.30±1.85) days. One month after surgery, the Qmax was significantly higher than the preoperative value [(20.19±3.39) mL/s vs. (2.39±2.17) mL/s], while the IPSS was significantly lower [(4.46±0.87) vs. (27.69±2.06)], with statistically significant differences (P<0.001). Postoperative complications included 1 case of incontinence (0.67%), 2 cases of urethral stricture/bladder neck contracture (1.34%), and 1 case of secondary bleeding (0.67%), all of which improved with symptomatic treatment. Conclusion Blue laser vaporization is effective for treating large-volume BPH, with advantages such as minimal bleeding risk, short operation time, fast recovery and safety.
7.A Brief Overview of Acupuncture in Regulating the Spirit for Treating Head and Facial Orifice Disorders
Zijing WANG ; Chao YANG ; Bing HONG ; Shuo DU ; Jiping ZHAO
Journal of Traditional Chinese Medicine 2025;66(3):317-320
It is believed that the head and facial orifices are connected with the brain's spirit and the spirits of the five organs. Their functions, including vision, hearing, smell, taste, and speech, are manifestations of the activity of the spirit. Furthermore, head and facial orifice disorders are interrelated with spirit disorders, forming a cause-and-effect relationship. Acupuncture has a regulatory effect on the spirit. Based on this, acupuncture for regulating the spirit in treating head and facial orifice disorders is proposed. This includes regulating the brain's spirit to treat functional disorders, regulating the heart's spirit to clarify the functions of governing substances, regulating the organ's spirit to benefit the orifices and enhance the communication of the spirit, and regulating the liver's spirit to promote the flow of Qi (气) and relieve stagnation, thereby providing a framework for acupuncture to treat head and facial orifice disorders.
8.Treatment Strategy of Fire Acupuncture by Repeated Shallow Needling Method for Refractory Facial Paralysis Based on the Pathogenesis of "Channel Sinews Deficiency and Stasis"
Bing HONG ; Chao YANG ; Zijing WANG ; Jing LIU ; Shuo DU ; Wenhui WANG ; Jiping ZHAO
Journal of Traditional Chinese Medicine 2025;66(7):741-745
It is regarded that the disease location of refractory facial paralysis is in the channel sinews of the face, with its primary pathogenesis characterized by a combination of deficiency and stasis of the channel sinews. The integration of repeated shallow needling method and fire acupuncture can first remove stagnation within the channel sinews, and second utilize the warming effect of fire to reinforce yang, stimulate meridian qi, and nourish the channel sinews. This approach balances both supplementation and drainage manipulation, aligning with the underlying pathogenesis of deficiency and stasis combination. In clinical practice, diagnostic methods should be applied flexibly to accurately identify the affected channel sinews. The severity of facial symptoms, the size and mobility of the paralyzed facial muscles, as well as the depth and size of the reactive points identified through palpation, should be considered when determining the extent of the condition. By adjusting the appropriate level of stimulation, the fire acupuncture with repeated shallow needling method could effectively improve facial muscle morphology and function, promoting recovery from the disease.
9.Evaluation of effect of hydrogen peroxide disinfectant on terminal disinfection in wards
Zequan WANG ; Linxia YI ; Zhiqin XIE ; Min ZHANG ; Wanyin XIONG ; Li ZHOU ; Tianxin XIANG ; Yunyu DU ; Shihan CHEN ; Xuemei TAO ; Chao XIE ; Zhen YANG
Chinese Journal of Nosocomiology 2025;35(21):3326-3329
OBJECTIVE To explore the effect of hydrogen peroxide disinfectant on terminal disinfection in wards of medical institutions.METHODS The surfaces of highly frequent contact objects of the wards of the First Affilia-ted Hospital of Nanchang University from which the public health center patients were discharged between Apr.2024 and Jun.2024 were respectively disinfected with 0.5%(low)and 5%(high)concentrations of hydrogen peroxide disinfecting wipes,totally 180 samples were randomly collected before and after the disinfection,and the pathogens were detected.The air of the wards from which the public health center patients were discharged be-tween Jul.2024 and Aug.2024 were disinfected with hydrogen peroxide dry mist disinfection device,and 90 sam-ples were respectively collected before and after the disinfection.Geobacillus stearothermophilus was used as the biological indicator and placed at various points within the air-disinfected wards to evaluate the disinfection level.The environmental sampling results and distribution of bacteria were observed and compared.RESULTS The qualified rates of disinfection of the object surfaces were 95.56%(86/90)and 98.89%(89/90)respectively for the low and high concentratioins of hydrogen peroxide disinfecting wipes,and there was no significant difference in the disinfection effect.Totally 120 strains of pathogens were isolated from unqualified samples before the disinfection,among which gram-negative bacteria(69.17%)were dominant,and the isolation rate of multidrug-resistant or-ganisms was 22.50%(27/120);only 1 strain of carbapenem-resistant Acinetobacter baumannii was isolated after the disinfection.The qualified rate of disinfection of air in the wards was 96.00%by 7.5%hydrogen peroxide dry mist disinfection device,the average bacterial colony counts in the air were 2 CFU/(5 min·vsl)after the dis-infection,and the killing rate of Geobacillus stearothermophilus was 100.00%by the air disinfection.CONCLUSION The hydrogen peroxide disinfectant can meet the requirement for terminal disinfection of the wards of the medical institutions,and it is portable and highly efficient.
10.Causes and management strategies of anesthetic complications during percutaneous spinal endoscopic surgery under local anesthesia
Baoshan XU ; Shuaishuai WEI ; Wenyi LI ; Qiang YANG ; Binggang GUAN ; Chao CHEN ; Haiwei XU ; Ning LI ; Lilong DU ; Tongxing ZHANG ; Jiawen GUAN ; Zhaomin ZHENG ; Yue ZHOU
Chinese Journal of Orthopaedics 2025;45(1):51-58
Objective:To investigate the causes and management strategies of anesthetic complications during percutaneous spinal endoscopic surgery under local anesthesia.Methods:A total of 16 800 patients (8 625 males and 8 175 females) who underwent percutaneous spinal endoscopic surgery under local anesthesia (including intravenous basic anesthesia) in Tianjin Hospital, Shandong Public Health Clinical Center and Hebei General Hospital from February 2012 to February 2023 were retrospectively analyzed. The average age was 45.3±21.6 years (range, 12-84 years). There were 220 cases of posterior cervical keyhole endoscopic surgery, 50 cases of thoracic transforaminal endoscopic surgery, 70 cases of thoracic posterior interlaminar endoscopic surgery, 11 670 cases of lumbar transforaminal endoscopic surgery, and 4 790 cases of lumbar posterior interlaminar endoscopic surgery. The occurrence time, clinical manifestations, management of intraoperative anesthesia complications were recorded, as well as surgical segments, puncture sites, complication symptoms, signs, outcome and prognosis.Results:All patients received percutaneous water-mediated uniaxial spinal endoscopic surgery under local anesthesia. There were 9 patients experienced anesthesia complications, including 6 cases of epidural diffusion of anesthetics and 3 cases of anesthetics mistakenly entering the subarachnoid space. There were 4 males and 5 females, aged 48.4±18.2 years (range, 28-84 years). There were 1 case of T 12L 1 disc herniation, 1 case of C 5-6 disc herniation, 3 cases of L 4-5 disc herniation and 4 cases of L 5S 1 disc herniation. Surgical segments and procedures: 1 case of C 5-6 posterior Keyhole endoscopic surgery, 1 case of T 12L 1 transforaminal endoscopic surgery, 2 cases of L 4-5 transforaminal endoscopic surgery, 1 case of L 4-5 interlaminar endoscopic surgery, and 4 cases of L 5S 1 interlaminar endoscopic surgery. Anesthesia complications all appeared 5-10 min after injection of local anesthetics, with symptoms of decreased oxygen saturation, decreased blood pressure, altered consciousness, and sensory and motor dysfunction of limbs. 6 patients with epidural diffusion of anesthetics recovered completely after symptomatic treatment in 5 cases, and 1 case was left with foot drop. Three patients with anesthetics mistakenly entering the subarachnoid space were immediately converted to the supine position, of which one recovered by mask oxygenation; 1 patient improved after emergency tracheal intubation, rehydration, and application of vasoconstrictive medications; and 1 patient developed multiple complications such as multiorgan failure, rhabdomyolysis, and sepsis after tracheal intubation, and recovered at 3 months after surgery with symptomatic treatment. Conclusions:Epidural diffusion and entering into subarachnoid space of anesthetics are serious complications of local anesthesia in percutaneous spinal endoscopic surgery. In addition to sensory and motor dysfunction of the limbs, the functions of the respiratory and circulatory systems can also be affected. It is necessary to be alert to the occurrence of anesthesia-related complications during operation and early identification and treatment.

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