OBJECTIVETo explore the genetic etiology for fetuses with increased nuchal translucency (NT) but a normal karyotype at whole genome level by chromosome microarray analysis (CMA).

METHODSSeventy-eight fetuses with increased NT (≥ 3.0 mm) but a normal karyotype were collected between 11(+0) and 13(+6) gestational weeks. Genomic DNA was extracted, and microarray testing was performed using Affymetrix CytoScan(TM) HD arrays. The data was analyzed by CHAS software. All detected copy number variations (CNVs) were confirmed with real-time quantitative polymerase chain reaction.

RESULTSThe CMA assay has detected pathogenic CNVs in 6 fetuses (7.69%), which have ranged from 0.41 Mb to 15.87 Mb. Well-known microdeletion or microduplication syndromes including Wolf-Hirschhorn syndrome, 22q11 microdeletion syndrome and ATR-16 syndrome were identified in three cases. The detection rates in fetuses with or without structural abnormalities were 18.18% and 5.97%, respectively (P=0.198 with Fisher's Exact Test). The average NT in fetuses with pathogenic CNVs and non-pathogenic CNVs has measured 4.48 mm and 4.22 mm (P=0.735 by Mann-Whitney Test).

CONCLUSIONFor fetuses with increased NT, CMA can identify chromosomal microdeletion/microduplication unrecognizable by conventional karyotyping analysis. It may therefore play an important role in prenatal diagnosis and genetic counseling by improving the diagnostic rate.

Adult ; Chromosome Aberrations ; Chromosome Disorders ; diagnosis ; diagnostic imaging ; genetics ; Female ; Fetal Diseases ; diagnosis ; diagnostic imaging ; genetics ; Humans ; Karyotype ; Karyotyping ; Nuchal Translucency Measurement ; Oligonucleotide Array Sequence Analysis ; Pregnancy ; Prenatal Diagnosis

OBJECTIVE:To study the hemostatic effect of porcine fibrin sealant patch (DBT) on bleeding wound of liver in rats and gluteus maximus in heparinized rabbits. METHODS:48 rats and 24 rabbits were randomly divided into sham operation group,operation control group (gauze hemostasis),medical collagen sponge group and DBT group. Except for sham operation group,animals in other groups were reduced for rat model with liver bleeding or heparinized rabbit model with gluteus maximus bleeding. The hemostatic time was recorded,bleeding amount was calculated;DBT degradation and wound adhesion in liver after 3,13 weeks were observed;re-bleeding rate of heparinized rabbits in medical collagen sponge group and DBT group were investi-gated. RESULTS:Compared with sham operation group,the hemostatic time and bleeding amount of animals in operation control group were significantly increased(P<0.01). Compared with operation control group,the hemostatic time and bleeding amount of animals in DBT group and medical collagen sponge group were significantly reduced (P<0.01). After 3,13 weeks,different de-gree of adhesion appeared in the wound of rats in each group,while the adhesion scores had no statistical significances(P>0.05). After 13 weeks,liver margin of rats in administration groups was slightly blunt,but it basically had been restored to preoperative state,with good healing. DBT can be degraded and absorbed completely. The re-bleeding rate of rabbits in DBT group were33.3%,66.7% in medical collagen sponge group. CONCLU-SIONS:DBT has good hemostatic effect on fragile organs and the body with blood coagulation dysfunction,and can be de-graded and absorbed. Its effect is equivalent to medical colla-gen,while the adhesive strength is slightly better than the latter.

Pulmonary blast injury has become the main type of trauma in modern warfare, characterized by externally mild injuries but internally severe injuries, rapid disease progression, and a high rate of early death. The injury is complicated in clinical practice, often with multiple and compound injuries. Currently, there is a lack of effective protective materials, accurate injury detection instrument and portable monitoring and transportation equipment, standardized clinical treatment guidelines in various medical centers, and evidence-based guidelines at home and abroad, resulting in a high mortality in clinlcal practice. Therefore, the Trauma Branch of Chinese Medical Association and the Editorial Committee of Chinese Journal of Trauma organized military and civilian experts in related fields such as thoracic surgery and traumatic surgery to jointly develop the Clinical treatment guideline for pulmonary blast injury ( version 2023) by combining evidence for effectiveness and clinical first-line treatment experience. This guideline provided 16 recommended opinions surrounding definition, characteristics, pre-hospital diagnosis and treatment, and in-hospital treatment of pulmonary blast injury, hoping to provide a basis for the clinical treatment in hospitals at different levels.