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.

Objective To evaluate the effects of"PICC fixed standard operation flow chart"in PICC fixed quality management. Methods Patients with PICC were admitted to the control group from January to June in 2014, given the routine PICC fixed method. PICC patients in the observation group who were enrolled from July to December 2014 were given new PICC fixed method that obey the"PICC fixed standard operation flow chart", which was established from relevant norms and guidelines and related literature. The incidence rate of medical adhesive related skin injury and unplanned extubation of PICC were compared with those of the two groups. Results The incidence rate of medical adhesive related skin injury was decreased from 35.20％(70034/198962) to 18.03％(37862/209955) (Z=-3.363, P<0.01) and PICC unplanned extubation decreased from 1.31‰(20/15384) to 0.37‰(7/18919) , the difference was statistically significant (χ2=6.940, P<0.05). Conclusions The PICC fixed standard operating flow chart can be used as a guide to implement the PICC fixation. Based on this, the quantitative management index is applied to the PICC fixed quality management, which can standardize the fixation of the PICC , reduce the related complications caused by the fixation of the catheter, prevent the occurrence of unplanned extubation of PICC , provide effective protection to ensure safe PICC long-term use and improve the patient's comfort.

Unilateral enlargement of the vestibular aqueduct (EVA)is a relatively rare disease. Bilateral EVA was found to be more common than unilateral EVA. There are significant differences in clinical features and molecular etiology between unilateral EVA and bilateral one. This article reviewed related researches of the unilateral EVA in clinical characteristics, molecular etiology and pathogenic mechanism.
Vestibular Aqueduct ; pathology

OBJECTIVE: Mutations in the GJB2 are the most common cause of nonsyndromic autosomal recessive sensorineural hearing loss. A few mutations in GJB2 have also been reported to cause dominant nonsyndromic or syndromic hearing loss. This study analysised the GJB2 dominant mutation in Chinese deafness. METHOD: 1641 patients as GJB2-related hearing loss were enrolled, summarized the type of dominant mutaion, analyzed the hearing level and other systerm lesion. RESULT: Nine probands with severe-profound hearing loss were diagnosed as GJB2 domiant mutation (R75W,G130V, R143Q,p. R184Q). And one patient with R75W mutation was diagosed as hearing loss and palmoplantar keratoderma. CONCLUSION GJB2 dominant mutation can cause severe-to-profound bilateral sensorineural hearing impairment and not common with syndromic hearing loss in Chinese deafness.
Asian Continental Ancestry Group ; Connexin 26 ; Connexins ; genetics ; Deafness ; genetics ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans ; Keratoderma, Palmoplantar ; Mutation ; Phenotype

OBJECTIVE: To analyze the curative effect of CI in children with GJB2-associated NSSNHL. METHOD: The evaluations of curative effect with CI include auditory threshold, IT-MAIS/MAIS, CAP, SIR. MESP. The outcomes of 40 cases with GJB2-associated NSSNHI, were compared 80 patients with negative results of screening of gene mutation (control group). RESULT: In comparison with control group the auditory threshold in children with GJB2-associated NSSNIL is better, however had no significant difference in other tests (P > 0.05). CONCLUSION CI could he performed on children with GJB2-associated NSSNHL. Postoperative outcomes of hearing and speech were satisfied.
Child ; Child, Preschool ; Cochlear Implantation ; Connexin 26 ; Connexins ; genetics ; Female ; Hearing Loss, Sensorineural ; genetics ; surgery ; Humans ; Infant ; Male ; Mutation ; Treatment Outcome

Objective To explore the application effect of four integrated nursing model in rehabilitation nursing of elderly patients with lung cancer .Methods Eighty-four elderly patients with lung cancer were chosen and were randomly divided into the control group and the intervention group , each with 42 cases.The control group received the routine holistic nursing mode , and the intervention group received the four integrated nursing model on the basis of the control group .The nursing effect was evaluated by the FACT , self-rating depression scale ( SDS ) and self -rating anxiety scale ( SAS ) in two groups .Results No differences were found in the scores of FACT , SDS, SAS between two group before the intervention (P>0.05). The scores of every scales of FACT were respectively (69.99 ±1.45), (69.87 ±2.54), (70.24 ±1.36), (69.25 ±2.02), (68.24 ±1.41) in the intervention group after the intervention , and were higher than those of the control group and those before the intervention (P<0.05).No differences were found in the scores of every scales of FACT in the control group before and after the intervention (P>0.05).The scores of SDS and SAS were respectively (33.893 ±4.257), (29.754 ±3.896) in the intervention group after the intervention , and were lower than (39.450 ±5.058), (34.639 ±5.785) in the control group, and the differences were statistically significant (t=-1.023,1.903, respectively;P<0.05).Conclusions The four integrated nursing model has a positive significance on the improvement of the overall quality of life in patients with lung cancer , and is worthy of the clinical promotion .