1.Clinical analysis of emergency rescue in whole-course integrated of abdominal injury with multitrauma
Jianwei YIN ; Wenbiao ZHAO ; Chunqiang ZHUANG ; Yong LI ; Songcheng XIA ; Jing WANG ; Jianying YUAN
Chinese Journal of Postgraduates of Medicine 2010;33(23):4-6
Objective To explore the effect of emergency rescue in whole-course integrated of abdominal injury with multitrauma. Methods Two hundred and eleven cases of abdominal injury with multitrauma from January 2004 to December 2006,before the emergency rescue in whole-course integrated, treating severe trauma 102 cases (group A),from January 2007 to December 2009,after the emergency rescue in whole-course integrated, treating severe trauma 109 cases (group B) .retrospectively analyzing and comparing the clinical effect between the two groups. Results In group A,injury severity score (ISS) was (24.7 ± 6.2) scores, 14 cases died, the mortality was 13.7% ,the time in emergency room and the time to operation room averaged (1.8 ± 0.2), (2.3 ± 0.3) h. While in group B, ISS was (26.6 ± 7.4) scores,6 cases died, the mortality was 5.5%, the time in emergency room and the time to operation room averaged (1.1 ± 0.1), (1.5 ± 0.2 ) h. ISS indicated no significant difference between the two groups ( P > 0.05 ), the mortality, the time in emergency room and the time to operation room indicated significant difference between the two groups (P < 0.05 ).Conclusion Emergency rescue in whole-course integrated of abdominal injury with multitrauma is an effective way to improve the curative rate.
2.Clinical features of five cases of 17q12 microdeletion
Chunqiang LIU ; Siyan LIN ; Qianmei ZHUANG ; Wanyu FU ; Linjun CHEN ; Baojia HUANG
Chinese Journal of Perinatal Medicine 2024;27(5):406-410
Objective:To investigate the clinical features of 17q12 microdeletion cases before and after delivery, and provide a reference for prenatal diagnosis and genetic counseling.Methods:A retrospective analysis was conducted on five fetuses diagnosed with 17q12 microdeletion by single nucleotide polymorphism array in Quanzhou Women's and Children's Hospital between April 2020 and June 2023. Clinical data including prenatal ultrasonography findings, genetic causes, parental clinical features, and postnatal outcomes were summarized and analyzed using descriptive statistical analysis.Results:The five fetuses had normal results of karyotype analysis of amniotic fluid, but carried a microdeletion of 1.4 to 1.8 Mb in the 17q12 region of the chromosome, involving 20 genes listed in the Online Mendelian Inheritance in Man database. Pedigree verification was performed on all five cases and the results indicated one maternally inherited case with the mother having polycystic kidneys complicated by left hydronephrosis, one de novo case, and three paternally inherited cases with one father having multiple cysts in both kidneys and two fathers showing no abnormalities. Multiple abnormalities were found in the five fetuses by prenatal ultrasonography, including enhanced renal parenchymal echogenicity in four cases and pyelectasis in one case. Two cases chose to terminate the pregnancies, while the other three continued the pregnancies to full term. Postnatal follow-ups showed that one case was normal in growth and development with no abnormalities by renal ultrasound; one case developed polycystic kidney; one case with normal renal ultrasound findings had a speech disorder and symptoms of suspected autism at the age of three. Conclusions:The main manifestation of 17q12 microdeletion is enhanced renal parenchymal echogenicity in the fetal stage and postnatal polycystic kidney. In prenatally diagnosed cases, pedigree verification is necessary as an objective and scientific genetic counseling is helpful in pregnancy decision-making.