ABSTRACT
OBJECTIVES@#To explore the genetic variation sites of caveolin （CAV） and their correlation with sudden unexplained death （SUD）.@*METHODS@#The blood samples were collected from SUD group （71 cases）, coronary artery disease （CAD） group （62 cases） and control group （60 cases）, respectively. The genome DNA were extracted and sequencing was performed directly by amplifying gene coding region and exon-intron splicing region of CAV1 and CAV3 using PCR. The type of heritable variation of CVA was confirmed and statistical analysis was performed.@*RESULTS@#A total of 4 variation sites that maybe significative were identified in SUD group, and two were newfound which were CAV1： c.45C>T （T15T） and CAV1：c.512G>A （R171H）, and two were SNP loci which were CAV1：c.246C>T （rs35242077） and CAV3：c.99C>T （rs1008642） and had significant difference （P<0.05） in allele and genotype frequencies between SUD and control groups. Forementioned variation sites were not found in CAD group.@*CONCLUSIONS@#The variants of CAV1 and CAV3 may be correlated with a part of SUD group.
Subject(s)
Humans , Male , Caveolins/genetics , Coronary Artery Disease , Death, Sudden/etiology , Exons , Genotype , Polymerase Chain Reaction , Polymorphism, Single NucleotideABSTRACT
Due to the negative autopsy and without cardiac structural abnormalities, unexpected sudden cardiac death （USCD） is always a tough issue for forensic pathological expertise. USCD may be associated with parts of fatal arrhythmic diseases. These arrhythmic diseases may be caused by disorders of cardiac ion channels or channel-related proteins. Caveolin can combine with multiple myocardial ion channel proteins through its scaffolding regions and plays an important role in maintaining the depolarization and repolarization of cardiac action potential. When the structure and function of caveolin are affected by gene mutations or abnormal protein expression, the functions of the regulated ion channels are correspondingly impaired, which leads to the occurrence of multiple channelopathies, arrhythmia or even sudden cardiac death. It is important to study the effects of caveolin on the functions of ion channels for exploring the mechanisms of malignant arrhythmia and sudden cardiac death.
Subject(s)
Humans , Arrhythmias, Cardiac/physiopathology , Autopsy , Caveolins/metabolism , Channelopathies/genetics , Death, Sudden, Cardiac/pathology , Forensic Pathology , Ion Channels/metabolism , Mutation , MyocardiumABSTRACT
OBJECTIVE: leaks from the body or the tip of the J-pouch can occur after restorative proctocolecotmy. Although it may follow an indolent clinical course, it often requires surgical repair or pouch revision. Here we describe a novel endoscopic approach to close the leak at the tip of the J pouch. DESIGN: pouchoscopy was performed under sedation and endoscopic over-the-scope clipping system was used for the management of a leak from the tip of a J-pouch. RESULTS: under sedation, a pouchoscopy was performed and the deep tip of "J" leak was detected with a guidewire, along with water-contrasted pouchogram. The contained cavity from the leak was cleaned with hydrogen peroxide and 50% dextrose. Debridement of the epithelialized mouth of the leak was performed with an endoscopic cytology brush. Then endoscopic over-the-scope clipping system was used and the leak defect was completely closed. There was no bleeding or perforation. The entire procedure took 25 min. The patient continued to do well and reported resolution of the low back pain symptom. CONCLUSION: we reported the first case in the literature that a leak from the tip of a J-pouch was endoscopically occluded using a novel over-the-scope clipping system. (AU)
OBJETIVE: vazamentos do corpo da bolsa e da extremidade da bolsa ileal em J podem ocorrer após proctocolectomia restauradora. Embora possam apresentar um curso clínico indolente, muitas vezes requerem procedimentos abdominais. DESENHO: endoscopia da bolsa ileal foi realizada sob sedação e clipagem endoscópica usando o sistema "over-the-scope" foi utilizada para fechar um vazamento na extremidade da bolsa ileal em "J". RESULTADOS: sob sedação, uma endoscopia de bolsa ileal foi realizada e a extremidade profunda do vazamento da bolsa ileal em "J" foi detectada com um fio-guia. A cavidade que continha o vazamento foi limpa com peróxido de hidrogênio e 50% de dextrose. Desbridamento da borda epitelizada do vazamento foi realizada com uma escova de citologia endoscópica. Então o sistema endoscópico "over-the-scope" clip foi usado e o vazamento foi completamente fechado. Não houve sangramento ou perfuração. O processo todo levou 25 minutos. O paciente evoluiu bem e relatou a resolução do sintoma de dor lombar. CONCLUSÃO: relatamos o primeiro caso na literatura de vazamento na extremidade de bolsa ileal em J que foi fechado através de procedimento endoscópico usando um novo sistema "over-the-scope" clip (OTSC). (AU)
Subject(s)
Humans , Female , Middle Aged , Surgical Stapling , Anastomotic Leak/surgery , Anastomosis, Surgical , Colonic Pouches/adverse effects , EndoscopyABSTRACT
Despite progress in the understanding of perirectal anatomy and subsequent adoption of total mesorectal excision,local recurrence after curative resection for rectal cancer continues to be a significant concern.Local recurrence of rectal cancer is associated with a wide spectrum of clinical symptoms and morbidities,and decreased quality of life.The management of locally recurrent rectal cancer is challenging because of the altered pelvic anatomy,postoperative adhesion and difficulty in obtaining a definite diagnosis before surgery.Surgery is the mainstay treatment for locally recurrent rectal cancer,and the use of radiation and chemotherapeutic agents provides significant improvement in survival rate and quality of life.