Objective:To evaluate the perioperative safety and long-term complications of simultaneous bilateral cochlear implantation（BCI） in young infants, providing reference data for clinical BCI in young children. Methods:Seventy-four infants aged 6-23 months with congenital severe to profound sensorineural hearing loss who were candidates for cochlear implantation at the Department of Otolaryngology, Chinese PLA General Hospital between August 2018 and August 2019 were consecutively enrolled. Parents made the decision to implant either unilaterally or bilaterally. Participants were divided into unilateral cochlear implantation（UCI） group（before and after 12 months of age） and simultaneous BCI group（before and after 12 months of age）. Safety indicators, including perioperative risk variables, complications, and other postoperative adverse events were monitored, with complications followed up for 5-6 years. Comparisons were made between the BCI and UCI, as well as between implantation before and after 12 months of age regarding perioperative safety and long-term complications. Results:A total of 40 BCI patients（23 before 12 months, 17 after 12 months） and 34 UCI patients（20 before 12 months, 14 after 12 months） were included in the study. Regarding perioperative risk variables, the BCI group showed significantly longer anesthesia duration, operative time, and greater blood loss compared to the UCI group, though less than twice that of the UCI group; no anesthetic complications occurred in either group; and there was no significant difference in postoperative hospital stay between the groups. Regarding surgical complications during the 5-year follow-up period, the BCI group experienced 7 complications（2 major, 5 minor）, while the UCI group had 7 complications（1 major, 6 minor）, with no statistical differences between groups. Regarding other postoperative adverse events, the BCI group demonstrated significantly higher total adverse event rates than the UCI group（80.0% vs 38.2%）, with higher rates of moderate to severe anemia（60.0% vs 20.6%） and lower mean hemoglobin levels[（92.35±12.14） g/L vs（102.39±13.09） g/L]. No significant differences were found in postoperative fever rates（50.0% vs 52.9%） or C-reactive protein levels between groups. Within the BCI group, patients implanted before 12 months indicated notably higher rates of total adverse events（91.3% vs 64.7%）, high fever（26.1% vs 0）, and moderate to severe anemia（78.3% vs 35.3%） compared to those implanted after 12 months. Conclusion:Simultaneous BCI in young children under 2 years of age demonstrates controllable overall risks. Compared to UCI, while it shows no increase in anesthetic or surgical complications, it presents higher perioperative risks and adverse event rates, especially in patients implanted before 12 months of age, warranting special attention from medical staff.
Humans ; Cochlear Implantation/methods* ; Infant ; Postoperative Complications ; Hearing Loss, Sensorineural/surgery* ; Follow-Up Studies ; Male ; Perioperative Period ; Female ; Cochlear Implants

The extracellular matrix（ECM）is a complex network structure composed of collagen，glycoproteins，and proteoglycans.It not only provides structural support and viscoelasticity to tissues but also participates in cell signaling，responding to environmental forces and signals to mediate tissue remodeling in response to environmental cues. Due to the intricate and precise functions of the inner ear，the perception and transmission of sound rely on the complex interactions between cochlear cell structures and the ECM. In the inner ear，the ECM not only constitutes key structures such as the basilar membranes（BM）and tectorial membranes（TM），which are essential for sound perception，but also regulates cell shape，adhesion，and migration.Certain ECM components interact with cell surface receptors to activate signaling pathways that regulate gene expression.Additionally，the ECM modulates the storage and diffusion of ions and secreted factors, creating concentration gradients.These functions are critical for inner ear development，repair，and function.Thus，the ECM plays a vital role in auditory processes，and abnormalities in ECM are a cause of certain hereditary hearing loss.This review primarily summarizes the ECM genes that lead to hearing loss.
Humans ; Extracellular Matrix/genetics* ; Hearing Loss/genetics* ; Mutation ; Cochlea ; Extracellular Matrix Proteins/genetics*

Hearing loss is the most prevalent disabling disease. Cochlear implantation（CI） serves as the primary intervention for severe to profound hearing loss. This consensus systematically explores the value of genetic diagnosis in the pre-operative assessment and efficacy prognosis for CI. Drawing upon domestic and international research and clinical experience, it proposes an evidence-based medicine three-tiered prognostic classification system（Favorable, Marginal, Poor）. The consensus focuses on common hereditary non-syndromic hearing loss（such as that caused by mutations in genes like GJB2, SLC26A4, OTOF, LOXHD1） and syndromic hereditary hearing loss（such as Jervell & Lange-Nielsen syndrome and Waardenburg syndrome）, which are closely associated with congenital hearing loss, analyzing the impact of their pathological mechanisms on CI outcomes. The consensus provides recommendations based on multiple round of expert discussion and voting. It emphasizes that genetic diagnosis can optimize patient selection, predict prognosis, guide post-operative rehabilitation, offer stratified management strategies for patients with different genotypes, and advance the application of precision medicine in the field of CI.
Humans ; Cochlear Implantation ; Prognosis ; Hearing Loss/surgery* ; Consensus ; Connexin 26 ; Mutation ; Sulfate Transporters ; Connexins/genetics*

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) for the prenatal diagnosis of a fetus with structural anomaly detected by ultrasonography. METHODS: The fetus and its parents were subjected to chromosomal karyotyping and CMA analysis. RESULTS: The fetus was found to carry a 46,XN,t(8;11)(q21.2;q13) translocation which was inherited from its mother. CMA has found no copy number variations (CNVs) in both parents but a de novo 2.00 Mb microdeletion in the fetus at 8q13.3. CONCLUSION CMA is capable of detecting microdeletions and microduplications in fetuses with translocations detected by karyotyping analysis.
Chromosome Aberrations ; Chromosome Deletion ; Chromosomes, Human, Pair 8 ; DNA Copy Number Variations ; Female ; Fetus ; Humans ; Karyotyping ; Microarray Analysis ; Pregnancy ; Prenatal Diagnosis

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with N-acetylglutamate synthase deficiency. METHODS: Trio whole exome sequencing (WES) was carried out for the pedigree. Pathogenicity of the identified variant was predicted based on the latest recommendation of the American College of Medical Genetics and Genomics (ACMG). Prenatal diagnosis was provided for subsequent pregnancy through Sanger sequencing. RESULTS: Trio WES showed that the proband has carried compound heterozygous c.68delG and c.796G>C variants of NAGS gene, for which the mother and father were respectively heterozygous carriers. Neither variant was reported previously. Based on the ACMG guidelines, the c.68delG variant was classified as "likely pathogenic" (PVS1+PM2), while the c.796G>C variant was classified as with "uncertain significance" (PM2+BP4). Sanger sequencing validated the above findings, and only detected the heterozygous c.796G>C variant in the amniotic fluid sample. The fetus was followed up till 6 month after birth with no obvious abnormality. CONCLUSION The compound heterozygous c.68delG and c.796G>C variants of the NAGS gene probably underlay the disorder in this pedigree, and the resulth asenabled genetic counseling and prenatal diagnosis for this pedigree.
Amino-Acid N-Acetyltransferase/genetics* ; China ; Female ; Genetic Testing ; Humans ; Male ; Mutation/genetics* ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Urea Cycle Disorders, Inborn/genetics* ; Whole Exome Sequencing

Objective: To explore the safety management of implantable venous infusion port, prevent and reduce the occurrence of catheter rupture and other related complications, and implement effective treatment measures after occurrence. Methods: A patient with an implantable venous transfusion port suffered from complete rupture of the catheter outside the hospital. Under multidisciplinary consultation, the condition of the catheter inside the port was clarified, and a safe treatment plan was worked out. The multidisciplinary venous transfusion treatment team cooperated with each other to correctly implement the capture, catching and nursing in vivo. Results: With the cooperation of multidisciplinary team, the broken port and catheter were successfully and safely removed without any discomfort. Conclusions Establishing a multi-disciplinary cooperation mechanism, standardizing the quality control of implantation in infusion port, popularizing the knowledge of post-implantation maintenance and implementing the safety management of infusion port can ensure the safe and long-term application of implanted intravenous infusion port.

Objective? To investigate the current situation of intravenous therapy in 38 ClassⅡ and above hospitals in Hu'nan Province and analyze the existing problems. Methods? A questionnaire survey was conducted in 38 hospitals in Hu'nan Province in November 2018 using the Nursing Situation of Intravenous Therapy in Hospitals at All Levels designed by the Professional Committee of Intravenous Therapy and Chinese Nursing Association. To understand the status quo of intravenous therapy, quality management of intravenous therapy, and the status of specialist nurses in intravenous therapy. Results? In 38 hospitals, totally 36 hospitals provided continuous intravenous therapy services through intravenous therapy/peripherally inserted central catheter (PICC) clinics and a designated hospital department; 21 hospitals had established intravenous therapy/PICC clinics; the outpatient service was flexible in form, but the qualification certification of outpatient nurses needed further regulation. The proportion of hospitals carrying out medium and long-term catheter infusion and hospitals carrying out PICC transfusion with Modified Sedinger Technique (MST) puncture guided by ultrasound was 100.00% and 72.22%, respectively. In vascular visualization technology, hospitals using infrared, ultrasound and X-ray technology were 2.63%, 63.16% and 34.21% respectively. There were some gaps in the skin disinfectant and disinfection scope, concentration of flushing and sealing fluid and maintenance frequency between the hospitals and the national standards in peripheral and central venipuncture and catheter maintenance. In terms of quality management of intravenous therapy, 34 hospitals had established intravenous therapy teams, whose quality evaluation criteria are different. In terms of specialist nurses team construction, there were 505 specialist nurses in venous therapy/PICC in 38 hospitals. The structure of specialist nurses had been continuously optimized in terms of education, title and length of service. However, hospitals needed to pay more attention to the development of specialist nurses. Conclusions? The contents of continuous nursing of intravenous therapy need to be further expanded, the management of PICC clinic needs to be strengthened, the standardized use of infusion devices and connectors needs to be improved, the knowledge and practice gap between puncture nursing and catheter maintenance of intravenous therapy exists, and the quality control standards of hospitals need to be standardized and regulated, more attention should be paid to the development of specialist nurses.