Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An infant with neonatal Marfan syndrome is described who presented with arachnodactyly, distinctive dysmorphic features and prolapse of both atrioventricular valves and dilatation of both the aortic and pulmonary root. She died in cardiac failure shortly after pacemaker implantation, due to dysrhythmia and severe mitral insufficiency. At autopsy, apart from myxomatous changes of the valves and dilated aortic and pulmonary roots, an aneurysm of the sinus of Valsalva of the pulmonary valve and abnormal myxomatous connective tissue surrounding the AV node were also found. Molecular genetic studies showed a point mutation in the fibrillin 1 gene that creates a new N-glycosylation site, which has been described once before.
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PMID:Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome. 1009 May 57

This study aimed to examine the frequency and nature of complications of vaginal prolapse surgery performed by members of SGS over a year and to determine the feasibility and the problems associated with prospective, multicentered collaborative data acquisition. A survey form, which included demographics, surgical indications, colpopexy type, concomitant procedures, technique, estimated blood loss (EBL), OR time, and intra/postoperative complications, was distributed to society members. The nature, extent, and solution of the complications were examined. There were 147 members of SGS at the time of the study. Many were reproductive endocrinologists and gynecologic oncologists. Twenty-one (14%) members participated. Three hundred forty-nine (349) completed forms were received: 187 sacrospinous fixations (SSF), 92 colposacropexies (CSP), and 70 high utero sacral suspensions (HUS). There were seven (3.7%) intraoperative complications for SSF, seven (7.6%) for CSP and three (4.3%) for HUS. There were four (2.1%) postoperative complications for SSF, six (6.5%) for CSP and none for HUS (NS). OR time was significantly longer for CSP vs. HUS ( P<.003) and for SSF vs. HUS ( p=.042). The EBL was significantly higher for SSF compared with CSP for the colpopexy procedure ( p=.013) and for entire cases ( p<.003). Analysis showed that all three colpopexies had significant intraoperative and postoperative complications of less than 8%. Intraoperative visceral damage was a concern for all three procedures. With SSF and CSP there was risk of bleeding and with HUS there was a risk of ureteral obstruction. Postoperative CSP complications were bowel obstruction, bleeding or hernia; for SSF neuropathy, and for HUS none. No life-threatening intraoperative or postoperative complications were reported. OR time was significantly shorter for HUS than SSF. The highest EBL was with SSF. Only 14% of the SGS membership responded, despite multiple requests for participation, demonstrating the difficulty of multicenter data gathering.
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PMID:A survey of the complications of vaginal prolapse surgery performed by members of the Society Of Gynecologic Surgeons. 1516 94

Neonatal Marfan syndrome (nMFS), phenotypically and genotypically distinct from the classical syndrome, is rarely diagnosed prenatally, and the cardiovascular prognosis is poor. This case report described one fetus diagnosed with nMFS by fetal echocardiography. The main features were cardiomegaly, and atrioventricular valves prolapse with moderate regurgitation and dilated great vessels. Extracardiac malformations included right diaphragmatic eventration, bilateral pyelectasis, and lengthy femur. Pathological examination confirmed the findings of fetal echo, and all cardiac valves were dysplastic. Sanger sequencing revealed a deletion mutation affecting exon 30 of the fibrillin 1 (FBN1) gene. Echocardiography is essential for prenatal diagnosis, and multivalve dysplasia is common among those patients.
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PMID:Prenatal diagnosis of Marfan syndrome by fetal echocardiography: A case report and review of cardiovascular manifestations. 3187 71