Spine fracture and dislocation are common traumatic spinal conditions that often require surgical intervention due to compromised spinal stability. Surgical approaches include anterior, posterior, and combined anterior-posterior spinal procedures. According to the specific surgical requirements, patients may be placed in the prone position or repositioned between prone and supine positions during surgery. Intraoperative repositioning has become an essential step in patient positioning. However, during repositioning, patients with spinal fracture and dislocation are at increased risk for complications such as hemodynamic instability, nerve injury, and pressure injuries to the skin and soft tissue. Notably, due to the instability of the spinal cord, even minor manipulations can further exacerbate the damage, potentially leading to severe outcomes like paraplegia. Although the current clinical guidelines provide instructive recommendations for standard position, there remains no specific protocols for intraoperative repositioning in patients with spine fracture and dislocation. With a concern for the lack of clinical studies on positioning techniques, risk prevention, and operational norms for special patients, no applicable guidelines or standards are available. A consensus was required to provide clinical reference, meet the requirements of surgical treatment, and minimize the safety risks of patients caused by improper placement of positions. Professional Committee of Operating Room Nursing of Shaanxi Nursing Association organized experts in nursing management and operating room nursing from major hospitals across China to formulate Expert consensus on intraoperative repositioning for patients with spinal fracture and dislocation ( version 2025). The consensus provides 11 recommendations covering pre-repositioning preparation, intraoperative maneuvers, and post-repositioning observation, aiming to provide references for clinical standardization of the intraoperative repositioning process and protection of patients′ safety.

Objective:To block family transmission of a small fragment copy number variation (CNV) with combined 1 Mb resolution preimplantation genetic testing for aneuploidy (PGT-A) and target region preimplantation genetic testing for monogenic disease (PGT-M) strategies.Methods:A couple who attended the Reproductive and Genetic Medicine Center of Dalian Women and Children′s Medical Center (Group) in 2024 were selected as the study subject. Upon the woman′s two pregnancies, ultrasound examination revealed fetal abnormalities, and CNV-seq based on low-depth whole genome sequencing revealed that both fetuses had carried a maternal 17p12 microduplication of approximately 1.43 Mb. Microduplication in this region has been associated with Charcot-Marie-Tooth disease type 1A. In view of the fact that the resolution of conventional PGT-A detection cannot meet the requirement of small fragment CNV analysis, and conventional PGT-M assay cannot directly determine the CNV, two detection schemes were adopted. On the one hand, PGT-A testing with 1 Mb resolution was performed on the embryo to directly determine whether it carries the above microduplication. At the same time, the couple and their fetus were subjected to chromosomal typing scheme for the 17p12 region to indirectly identify embryos carrying the risk chromosome for microduplication. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No: FEJT-KY-2025-51).Results:Three embryos were tested after the first PGT cycle, of which 1 was not carrying the pathogenic variant and was euploid, whilst the other 2 embryos were carrying the 17p12 microduplication, and 1 of them was aneuploid. After genetic counseling, the euploid embryo without the 17p12 microduplication was selected for transfer, and prenatal diagnosis based on amniotic fluid sample showed that the fetal chromosomal karyotype was normal and did not carry the 17p12 microduplication.Conclusion:The combined application of high-resolution PGT-A and PGT-M typing detection of the target region can effectively block family transmission of the CNVs of small fragments.

Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

Primary aldosteronism(PA)is the most common cause of secondary hypertension,yet its diagnosis remains under-recognized,with a high rate of missed diagnoses.This condition significantly impacts multiple systems,including the cardiovascular,renal,metabolic,and skeletal systems,resulting in notable complications.Patients with Klinefelter syndrome(KS)exhibit a markedly higher prevalence of metabolic disorders,which may further exacerbate cardiovascular and endocrine dysfunction.Here we report a patient who presented with refractory hypertension and an incidentally discovered adrenal mass,and was ultimately diagnosed with a left adrenal aldosterone-producing adenoma combined with KS.We provide a detailed description of the patient's clinical manifestations,biochemical indices,diagnostic process,and postoperative histopathological findings in order to enhance the understanding of PA and KS and their potential interconnections,which offers diagnostic insights to reduce misdiagnosis and missed diagnoses.

Isoflavones which mainly distributed in leguminous plants have plenty of health benefits.Isoflavone synthase(IFS)is a membrane-associated cytochrome P450 enzyme(CYP450)which carries out the unique aryl-ring migration and hydroxylation.So far,few crystal structures of plant P450s have been obtained.We determined the crystal structure of IFS from Medicago truncatula at 1.9 ? by MAD method using a selenomethionine substituted crystal and conducted molecular docking and mutagenesis study.The structure of IFS complexed with imidazole exhibits the helix Ⅰa-loop-helix Ⅰβ motif which cor-responds to helix Ⅰ of other P450s.Compared with structures of common P450s,IFS/imidazole structure contains an extra domain,i.e.,the γ-domain.The structure reveals a homodimer in which the γ-domain of one molecule interacts with the β-domain of another.The plane of heme group makes an angle of ap-proximately 40° with the helix Ⅰa-loop-helix Ⅰβ motif.Molecular docking combined with mutagenesis study suggested that Trp-128 and Asp-300 might play important roles in substrate binding and recogni-tion.Phe-301,Ser-303 and Gly-305 from the helix Ⅰa-loop-helix Ⅰβ motif may play important roles in the aryl-ring migration.These novel structural features reveal insights into the unique reaction mechanism of IFS and provide a basis for engineering IFS in leguminous crops for health purpose.

The nursing experience was summarised over a patient who developed an impending myasthenic crisis following immune checkpoint inhibitors(ICIs)therapy after the surgery for stage-Ⅳ liver cancer.Key nursing points included:close monitoring for early signs of impending myasthenic crisis;set up a multi-disciplinary team to improve respiratory,oropharyngeal and ocular function,control respiratory infection,provide psychological support in order to prevent the patient from developing a manifest myasthenia-gravis crisis(MC);combine with medications to relieve myasthenic symptoms and prevent adverse drug reactions;individualised rehabilitation training to promote recovery of muscular strength.Eventually,the patient did not develop into a MC during hospitalisation(20d)and was well at 3-month after discharge.

OBJECTIVE: To block family transmission of a small fragment copy number variation (CNV) with combined 1 Mb resolution preimplantation genetic testing for aneuploidy (PGT-A) and target region preimplantation genetic testing for monogenic disease (PGT-M) strategies. METHODS: A couple who attended the Reproductive and Genetic Medicine Center of Dalian Women and Children's Medical Center (Group) in 2024 were selected as the study subject. Upon the woman's two pregnancies, ultrasound examination revealed fetal abnormalities, and CNV-seq based on low-depth whole genome sequencing revealed that both fetuses had carried a maternal 17p12 microduplication of approximately 1.43 Mb. Microduplication in this region has been associated with Charcot-Marie-Tooth disease type 1A. In view of the fact that the resolution of conventional PGT-A detection cannot meet the requirement of small fragment CNV analysis, and conventional PGT-M assay cannot directly determine the CNV, two detection schemes were adopted. On the one hand, PGT-A testing with 1 Mb resolution was performed on the embryo to directly determine whether it carries the above microduplication. At the same time, the couple and their fetus were subjected to chromosomal typing scheme for the 17p12 region to indirectly identify embryos carrying the risk chromosome for microduplication. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No: FEJT-KY-2025-51). RESULTS: Three embryos were tested after the first PGT cycle, of which 1 was not carrying the pathogenic variant and was euploid, whilst the other 2 embryos were carrying the 17p12 microduplication, and 1 of them was aneuploid. After genetic counseling, the euploid embryo without the 17p12 microduplication was selected for transfer, and prenatal diagnosis based on amniotic fluid sample showed that the fetal chromosomal karyotype was normal and did not carry the 17p12 microduplication. CONCLUSION The combined application of high-resolution PGT-A and PGT-M typing detection of the target region can effectively block family transmission of the CNVs of small fragments.
Humans ; Female ; DNA Copy Number Variations/genetics* ; Preimplantation Diagnosis/methods* ; Pregnancy ; Pedigree ; Genetic Testing/methods* ; Male ; Adult ; Aneuploidy ; Chromosomes, Human, Pair 17/genetics* ; China ; East Asian People

PURPOSE: To investigate the incidence and influencing factors of bone loss in patients with spinal cord injury (SCI). METHODS: A retrospective case-control study was conducted. Patients with SCI in our hospital from January 2019 to March 2023 were collected. According to the correlation between bone mineral density (BMD) at different sites, the patients were divided into the lumbar spine group and the hip joint group. According to the BMD value, the patients were divided into the normal bone mass group (t > -1.0 standard deviation) and the osteopenia group (t ≤ -1.0 standard deviation). The influencing factors accumulated as follows: gender, age, height, weight, cause of injury, injury segment, injury degree, time after injury, start time of rehabilitation, motor score, sensory score, spasticity, serum value of alkaline phosphatase, calcium, and phosphorus. The trend chart was drawn and the influencing factors were analyzed. SPSS 26.0 was used for statistical analysis. Correlation analysis was used to test the correlation between the BMD values of the lumbar spine and bilateral hips. Binary logistic regression analysis was used to explore the influencing factors of osteoporosis after SCI. p < 0.05 was considered statistically significant. RESULTS: The incidence of bone loss in patients with SCI was 66.3%. There was a low concordance between bone loss in the lumbar spine and the hip, and the hip was particularly susceptible to bone loss after SCI, with an upward trend in incidence (36% - 82%). In this study, patients with SCI were divided into the lumbar spine group (n = 100) and the hip group (n = 185) according to the BMD values of different sites. Then, the lumbar spine group was divided into the normal bone mass group (n = 53) and the osteopenia group (n = 47); the hip joint group was divided into the normal bone mass group (n = 83) and the osteopenia group (n = 102). Of these, lumbar bone loss after SCI is correlated with gender and weight (p = 0.032 and < 0.001, respectively), and hip bone loss is correlated with gender, height, weight, and time since injury (p < 0.001, p = 0.015, 0.009, and 0.012, respectively). CONCLUSIONS The incidence of bone loss after SCI was high, especially in the hip. The incidence and influencing factors of bone loss in the lumbar spine and hip were different. Patients with SCI who are male, low height, lightweight, and long time after injury were more likely to have bone loss.
Humans ; Spinal Cord Injuries/complications* ; Male ; Female ; Retrospective Studies ; Incidence ; Adult ; Bone Density ; Middle Aged ; Case-Control Studies ; Osteoporosis/etiology* ; Lumbar Vertebrae ; Bone Diseases, Metabolic/etiology* ; Aged ; Risk Factors

Spine fracture and dislocation are common traumatic spinal conditions that often require surgical intervention due to compromised spinal stability. Surgical approaches include anterior, posterior, and combined anterior-posterior spinal procedures. According to the specific surgical requirements, patients may be placed in the prone position or repositioned between prone and supine positions during surgery. Intraoperative repositioning has become an essential step in patient positioning. However, during repositioning, patients with spinal fracture and dislocation are at increased risk for complications such as hemodynamic instability, nerve injury, and pressure injuries to the skin and soft tissue. Notably, due to the instability of the spinal cord, even minor manipulations can further exacerbate the damage, potentially leading to severe outcomes like paraplegia. Although the current clinical guidelines provide instructive recommendations for standard position, there remains no specific protocols for intraoperative repositioning in patients with spine fracture and dislocation. With a concern for the lack of clinical studies on positioning techniques, risk prevention, and operational norms for special patients, no applicable guidelines or standards are available. A consensus was required to provide clinical reference, meet the requirements of surgical treatment, and minimize the safety risks of patients caused by improper placement of positions. Professional Committee of Operating Room Nursing of Shaanxi Nursing Association organized experts in nursing management and operating room nursing from major hospitals across China to formulate Expert consensus on intraoperative repositioning for patients with spinal fracture and dislocation ( version 2025). The consensus provides 11 recommendations covering pre-repositioning preparation, intraoperative maneuvers, and post-repositioning observation, aiming to provide references for clinical standardization of the intraoperative repositioning process and protection of patients′ safety.

Objective:To block family transmission of a small fragment copy number variation (CNV) with combined 1 Mb resolution preimplantation genetic testing for aneuploidy (PGT-A) and target region preimplantation genetic testing for monogenic disease (PGT-M) strategies.Methods:A couple who attended the Reproductive and Genetic Medicine Center of Dalian Women and Children′s Medical Center (Group) in 2024 were selected as the study subject. Upon the woman′s two pregnancies, ultrasound examination revealed fetal abnormalities, and CNV-seq based on low-depth whole genome sequencing revealed that both fetuses had carried a maternal 17p12 microduplication of approximately 1.43 Mb. Microduplication in this region has been associated with Charcot-Marie-Tooth disease type 1A. In view of the fact that the resolution of conventional PGT-A detection cannot meet the requirement of small fragment CNV analysis, and conventional PGT-M assay cannot directly determine the CNV, two detection schemes were adopted. On the one hand, PGT-A testing with 1 Mb resolution was performed on the embryo to directly determine whether it carries the above microduplication. At the same time, the couple and their fetus were subjected to chromosomal typing scheme for the 17p12 region to indirectly identify embryos carrying the risk chromosome for microduplication. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No: FEJT-KY-2025-51).Results:Three embryos were tested after the first PGT cycle, of which 1 was not carrying the pathogenic variant and was euploid, whilst the other 2 embryos were carrying the 17p12 microduplication, and 1 of them was aneuploid. After genetic counseling, the euploid embryo without the 17p12 microduplication was selected for transfer, and prenatal diagnosis based on amniotic fluid sample showed that the fetal chromosomal karyotype was normal and did not carry the 17p12 microduplication.Conclusion:The combined application of high-resolution PGT-A and PGT-M typing detection of the target region can effectively block family transmission of the CNVs of small fragments.