ABSTRACT
OBJECTIVE@#To explore the molecular basis for two brothers affected with globozoospermia.@*METHODS@#Whole exome sequencing was carried out for both patients. Candidate variant was verified by Sanger sequencing and quantitative real-time PCR (qRT-PCR).@*RESULTS@#Whole exome sequencing, Sanger sequencing and qRT-PCR verification revealed a heterozygous c.384dup (p.Glu129*) variant in the DPY19L2 gene in the two brothers and their mother. A large heterozygous deletion, spanning approximately 164.5 kb and encompassing the entire DPY19L2 gene, was detected on chromosome 12 of the two patients and their father.@*CONCLUSION@#The c.384dup (p.Glu129*) variant and deletion of the DPY19L2 gene probably underlie the pathogenesis of globozoospermia in the two patients, which was in keeping with the autosomal recessive inheritance of disease in this pedigree.
Subject(s)
Humans , Male , Gene Deletion , Genetic Variation , Infertility, Male , Genetics , Membrane Proteins , Genetics , Pedigree , Siblings , Teratozoospermia , Genetics , Exome SequencingABSTRACT
Objective To summarize the experiences of diagnosing and treating acute pancreatitis (AP) after kidney transplantation .Methods From September 2007 to December 2017 , clinical data were retrospectively analyzed for 12 AP patients after kidney transplantation .Results They were diagnosed as AP within 72 h after an onset of abdominal pain .Among 4 recurrent cases within 1 week post-transplantation ,the curative interventions included non-operative therapy (n=2) and peripancreatic puncture & drainage (n=2) .AP occurred at 1 year post-transplantation (n=8) . Three cases were cured non-surgically while another 5 cases underwent surgery . The procedures included laparoscopic cholecystectomy ( n = 1 ) , endoscopic retrograde cholangiopancreatography (ERCP) for cholelithiasis (n=1) and peripancreatic puncture & drainage (n= 2) .One patient died after surgical debridement for adjacent pancreatic tissue .Conclusions After kidney transplantation , the occurrence of AP may be associated with immunosuppressants interfering with triglyceride metabolism and pancreatic microcirculation .For those with cholelithiasis-related pancreatitis ,surgical removal of precipitating factor is required .Mini-invasive puncture and drainage are preferred for severe non-gallstone pancreatitis while surgery is performed whenever necessary .
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OBJECTIVE@#To investigate the clinical effect of negative pressure drainage after septum surgery.@*METHOD@#One hundred and two cases with septum deviation were randomly divided into two groups, i. e. experimental group and controlling one. With 51 cases in each. Degree of comfort and complication of two groups were compared.@*RESULT@#The cases in experimental group showed significantly relieved postoperative reaction with negative pressure drainage, when compared with that of controls, the incidence of complication were not increased.@*CONCLUSION@#Negative pressure drainage can be taken as one of the ideal materials for hemostasia after septum surgery.
Subject(s)
Humans , Drainage , Endoscopy , Incidence , Nasal Septum , General Surgery , Nose Deformities, Acquired , Postoperative PeriodABSTRACT
Objective:To prepare the vaccine of DC derived from human peripheral blood and transfected with HPV16E6 antigen gene, and to detect its morphological character,surface marker and immunological effect.Methods:DC-enriched populations were prepared from human peripheral blood mononuclear cell(PBMC) with the combination of rhGM-CSF,rhIL-4 and rhTNF-?. The plasmid containing HPV16E6 gene was transfected into DC with lipofectamine. The morphology of DC was observed dynamically, and the expression of surface markers of DC vaccine could be detected using immuno-cytochemical staining and flow cytometry. MTT assay was applied to detect the activity of CTL in vitro.Results:The transfected DC had typical morphologic and phenotypic characteristics, and expressed E6 protein 47.3%, CD80 82.5%, CD86 79.8% and CD83 85.7%. The killing activities of CTL to Caski cells induced by transfected DC were higher evidently than that of control groups(P