Objective:To analyze the clinical features and pathogenic genes of a family with congenital cataracts.Methods:A pedigree analysis was performed.A Han Chinese family initially diagnosed with congenital cataracts at The Fourth Hospital of Shijiazhuang in March 2024 was enrolled.The proband and selected family members underwent detailed ophthalmic examinations.Potential cataract-associated genetic variants in the proband were identified using whole exome sequencing (WES). Sanger sequencing was employed to confirm the presence of these variants in the proband and other family members.The identified variants were analyzed in accordance with the guidelines of the American College of Medical Genetics and Genomics (ACMG). This study adhered to the Declaration of Helsinki.The research protocol was approved by the Ethics Committee of The Fourth Hospital of Shijiazhuang (No.20230074). Both the subjects and their guardians were informed of the study purpose and voluntarily signed the informed consent form.Results:The pedigree included four generations comprising 15 individuals, with three patients identified across the second, third, and fourth generations.These cases included two males and one female, specifically the proband, his mother, and his eldest son.The observed inheritance pattern aligned with an autosomal dominant mode, characterized by the clinical presentation of bilateral cataracts.WES identified a novel frameshift insertion variant c. 270_271insA in exon 2 of the CRYAB gene in the proband, resulting in a valine-to-serine substitution at amino acid position 91.This variant induced early termination of translation following the expression of two additional amino acids, loss of 84 amino acids (p.V91Sfs2) and the production of a functionally impaired protein.The Sanger sequencing validation results were consistent with the co-segregation.According to the ACMG classification criteria (PM2+ PP1+ PVS1), the variant was classified as likely pathogenic. Conclusions:The frameshift insertion variant c. 270_271insA (p.V91Sfs2) in exon 2 of the CRYAB gene is likely the pathogenic cause of congenital cataract in this family.This is the first report of this variant.

Objective:To investigate the awareness levels of doctors from various departments regarding fertility preservation to provide reference and suggestions for further improving awareness and promoting multidisciplinary development in fertility preservation.Methods:From November to December 2023, the China Alliance of Fertility Preservation initiated this survey covering 88 hospitals in 23 cities across 20 provinces in China. The survey focused on the degree of understanding of basic concepts, technological perceptions, treatment concepts, and related challenges regarding fertility preservation. Descriptive statistics and Fisher's exact test were used to analyze the difference in awareness levels across various departments.Results:There was a significant difference in the awareness of fertility preservation guidelines among physicians from different departments ( P<0.001). Reproductive center physicians had the highest level of understanding [68.3% (41/60)]. Doctors in the reproductive centers had a higher awareness rate of the five fertility preservation techniques (ovarian tissue cryopreservation, oocyte cryopreservation, sperm cryopreservation, testicular tissue cryopreservation, and embryo cryopreservation) than that in other departments (all P<0.05). Regarding treatment concepts, more reproductive center physicians believed that psychological counselling about fertility preservation before oncological treatment was necessary ( P=0.016). Hematologists had more worries and concerns about fertility preservation treatment. Additionally, 96.7% (58/60) of reproductive center physicians expressed the need to establish effective referral mechanisms within the same city, province, or across provinces. However, 55.6% (35/63) of oncologists, 64.6% (31/48) of hematologists, and 77.8% (7/9) of pediatricians considered treating primary tumors far more important than fertility preservation. Conclusion:Doctors from different departments have varying levels of understanding regarding fertility preservation. It is necessary to strengthen the dissemination and training of fertility preservation knowledge among physicians from various departments, as well as to promote a multidisciplinary treatment model to improve efficiency, to establish a comprehensive referral mechanism to improve patients' opportunities for fertility preservation.

Since the birth of the first "test-tube baby" in Chinese mainland in 1988, assisted reproductive technology (ART) in China has matured significantly. The number of ART cycles has surpassed one million, and the number of assisted reproductive institutions and practitioners has attained a significant scale, contributing to the establishment of a fertility-friendly society. However, due to the complexity of the ART process, the diversity of personnel backgrounds, and the profound impact of any error that may occur, there is an urgent need to establish an efficient and effective safety management model for error prevention. This paper aims to outline the key processes and steps involved in the implementation of ART, explore control measures for these critical processes, and delve into error prevention strategies for gamete and embryo laboratories through the creation and utilization of a "gamete safety checklist".

Aim To investigate the anti-Zika virus(ZIKV)mechanism of diterpenoid compound 9 from Euphorbia helioscopia in vitro.Methods The cytotox-icity of compound 9 was evaluated using the CCK-8 as-say.A ZIKV-infected Vero cell model was established,and the antiviral activity was assessed through RT-qPCR,plaque assay,Western blot,and immunofluores-cence.Furthermore,the mechanism of action was elu-cidated using multi-cell line validation,nanoparticle tracking analysis,cellular thermal shift assay,and mo-lecular docking.Results In Vero cells,compound 9 exhibited an EC50 of(3.95±0.15)μmol·L-1 and a CC50 of(272.12±8.56)μmol·L-1,demonstrating significantly higher antiviral efficacy than the positive control drug ribavirin(RBV).Its virus inactivation effect was time-dependent and could significantly re-duce viral load and plaque formation.Studies revealed that compound 9 altered the physicochemical properties of ZIKV particles,including reducing surface charge and increasing particle size distribution.Additionally,it significantly enhanced the thermal stability of the prM protein.Molecular docking analysis indicated that compound 9 formed a high-affinity interaction with the prM protein(binding energy:-38.52 kJ·mol-1)and stabilized its structure through hydrophobic interac-tions.Conclusion Compound 9 exerts in vitro anti-ZIKV activity by directly inactivating the virus,disrup-ting viral particle integrity,and targeting the prM pro-tein.

Objective:To analyze the clinical features and pathogenic genes of a family with congenital cataracts.Methods:A pedigree analysis was performed.A Han Chinese family initially diagnosed with congenital cataracts at The Fourth Hospital of Shijiazhuang in March 2024 was enrolled.The proband and selected family members underwent detailed ophthalmic examinations.Potential cataract-associated genetic variants in the proband were identified using whole exome sequencing (WES). Sanger sequencing was employed to confirm the presence of these variants in the proband and other family members.The identified variants were analyzed in accordance with the guidelines of the American College of Medical Genetics and Genomics (ACMG). This study adhered to the Declaration of Helsinki.The research protocol was approved by the Ethics Committee of The Fourth Hospital of Shijiazhuang (No.20230074). Both the subjects and their guardians were informed of the study purpose and voluntarily signed the informed consent form.Results:The pedigree included four generations comprising 15 individuals, with three patients identified across the second, third, and fourth generations.These cases included two males and one female, specifically the proband, his mother, and his eldest son.The observed inheritance pattern aligned with an autosomal dominant mode, characterized by the clinical presentation of bilateral cataracts.WES identified a novel frameshift insertion variant c. 270_271insA in exon 2 of the CRYAB gene in the proband, resulting in a valine-to-serine substitution at amino acid position 91.This variant induced early termination of translation following the expression of two additional amino acids, loss of 84 amino acids (p.V91Sfs2) and the production of a functionally impaired protein.The Sanger sequencing validation results were consistent with the co-segregation.According to the ACMG classification criteria (PM2+ PP1+ PVS1), the variant was classified as likely pathogenic. Conclusions:The frameshift insertion variant c. 270_271insA (p.V91Sfs2) in exon 2 of the CRYAB gene is likely the pathogenic cause of congenital cataract in this family.This is the first report of this variant.

Cancer cachexia is a complex syndrome caused by multiple factors,which seriously affects the quality of life and prognosis of patients.Its overall pathogenesis is related to the deficiency of spleen qi,insufficiency of kidney essence,internal generation of turbid toxins,and the obstruction of the production of qi,blood and essential qi,which cannot nourish the muscles and bones.Under the guidance of the dynamic diagnosis and treatment system of"spleen and kidney exhaustion as the root cause and internal accumulation of turbid toxins as the manifestation",the overall regulation is carried out from four dimensions:opening and closing the spleen and stomach,nourishing the kidney and promoting transportation,transforming turbid toxins and detoxification,and tonifying qi and nourishing yin.It has shown unique value in the intervention of cancer cachexia and can provide ideas and references for the clinical practice of TCM in treating cancer cachexia.

Cervical spinal cord injury without fracture-dislocation (CSCIWFD) is referred to as a special type of cervical spinal cord injury characterized by traumatic spinal cord dysfunction and no significant bony structural abnormalities on imagines. Duo to the high risk of missed diagnosis during the initial consultation, CSCIWFD may lead to progressive neurological deterioration or even complete paralysis, severely impacting patients′ prognosis. Currently, there are no established consensuses over the diagnosis and treatment of CSCIWFD, such as the lack of evidence-based standards for indications of non-surgical treatment and risk of secondary neurological injury, as well as debates over the optimal timing for surgical intervention and indications for different surgical approaches. To address these issues, the Spine Trauma Group of the Orthopedic Branch of the Chinese Medical Doctor Association organized experts in the relevant fields to formulate Diagnosis and treatment guideline for acute cervical spinal cord injury without fracture- dislocation in adults ( version 2025) . Based on evidence-based medicine and the principles of scientific rigor and clinical applicability, the guidelines proposed 11 recommendations covering terminology, diagnosis, evaluation treatment, and rehabilitation, etc., aiming to standardize the management of CSCIWFD.

Vertebral refracture following percutaneous vertebral augmentation (PVA) is commonly seen in elderly patients with osteoporotic thoracolumbar compression fractures (OTLCF). It can lead to recurrent pain, loss of vertebral height, progression of kyphosis, and even neurological dysfunction, significantly impairing patients′ quality of life. Current diagnosis and treatment face multiple challenges, including high misdiagnosis rate, difficulty in choosing between surgical and non-surgical treatment options, lack of standardized surgical protocols, interference from intralesional bone cement during procedures, inadequate stability of internal fixation in osteoporotic bone, and suboptimal compliance of anti-osteoporotic therapy. Establishing a standardized diagnostic and therapeutic framework is urgently needed. To standardize the management process and improve outcomes for vertebral refractures after PVA in elderly OTLCF patients, Spinal Trauma Group of the Orthopedic Branch of Chinese Medical Doctor Association organized experts in the field to develop Guideline for the diagnosis and treatment of vertebral refracture after percutaneous vertebral augmentation in elderly patients with osteoporotic thoracolumbar compression fractures ( version 2025), based on current literature and clinical experience, and adhering to principles of scientific rigor and clinical applicability. A total of 11 recommendations were proposed, encompassing diagnosis, treatment, and rehabilitation of vertebral refracture after PVA in elderly patients with OTLCF, aiming to provide a foundation for a standardized management.

Thoracolumbar spine fracture often leads to severe pain, functional impairments, and neurological deficits, for which open reduction and internal fixation can effectively restore the spinal structural stability. Open decompression and reduction with internal fixation can help relieve spinal cord compression and improve spinal function in cases of concomitant cord injury. Although spinal stability can be restored through surgery, patients often face chronic pain and functional impairments postoperatively. A postoperative rehabilitation program is critical in optimizing therapeutic outcomes, reducing complications, and minimizing the risk of secondary injuries. However, current rehabilitation methods, such as physical therapy, functional training, and pain management, are confronted with problems in clinical practice, including significant variation in efficacy, poor patient adherence, and prolonged rehabilitation period. There is an urgent need for a unified rehabilitation strategy to address these problems. To this end, the Spinal Trauma Group of the Orthopedic Physicians Branch of the Chinese Medical Association and the Spine Health Professional Committee of the Chinese Human Health Technology Promotion Association organized experts from relevant fields to formulate Evidence-based guidelines for rehabilitation treatment after internal fixation of thoracolumbar spine fracture in adults ( version 2025) by integrating evidences from clinical researches and advanced rehabilitation concepts at home and abroad. A total number of 14 recommendations concerning the rehabilitation treatment with multimodal analgesia, psychological intervention, deep vein thrombosis prevention, core muscle and extremity exercise, appropriate use of braces, early weight-bearing, device-aided rehabilitation exercise, neuroregulatory therapy, rehabilitation team were put forward, aiming to standardize the post-operative rehabilitation process following internal fixation, promote the functional recovery, and enhance patients′ quality of life.

Acute symptomatic osteoporotic thoracolumbar compression fracture (ASOTLF) can lead to chronic low back pain, kyphosis deformity, pulmonary dysfunction, loss of mobility, and even life-threatening complications. Vertebral augmentation is currently the mainstream treatment method for this condition. In 2019, the Editorial Board of Chinese Journal of Trauma and the Spinal Trauma Group of Orthopedic Surgeons Branch of Chinese Medical Doctor Association collaboratively led the development of Clinical guideline for vertebral augmentation for acute symptomatic osteoporotic thoracolumbar compression fractures. Six years later, with advances in clinical diagnosis and treatment techniques as well as accumulating evidence in related fields, the 2019 guideline requires updating. To this end, the Spinal Trauma Group of Orthopedic Surgeons Branch of Chinese Medical Doctor Association, the Spinal Health Professional Committee of China Human Health Science and Technology Promotion Association, and the Minimally Invasive Orthopedics Professional Committee of Shaanxi Medical Doctor Association have organized experts in the field to develop the Clinical guideline for vertebral augmentation of acute symptomatic osteoporotic thoracolumbar compression fractures ( version 2025) , based on the latest evidence-based medical researches. This guideline incorporates 3 recommendations retained from the 2019 version with updated strength of evidence, along with 12 new recommendations. It provides recommendations from six aspects of diagnosis, pain management, treatment option selection, prevention of postoperative complications, anti-osteoporosis therapy, and postoperative rehabilitation, aiming to provide a reference for standard treatment of vertebral augmentation for ASOTLF in hospitals at all levels.