Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

Congenital diaphragmatic hernia (CDH) is a relatively common, life--threatening birth defect. We present a family with recurrent CDH--paraesophageal and central--for whom exome sequencing (ES) revealed a frameshift mutation (c.4969_4970insA, p.Ile1657Asnfs*30) in the fibrillin 1 gene (FBN1) that causes Marfan syndrome. A diagnosis of Marfan syndrome had not been considered previously in this family. However, a review of the literature demonstrated that FBN1 mutations have an unusual pattern of CDH in which paraesophageal hernias are particularly common. Subsequent clinical evaluations revealed evidence for ectopia lentis in affected family members supporting a clinical diagnosis of Marfan syndrome. Since only two other cases of familial CDH have been described in association with FBN1 mutations, we investigated an oligogenic hypothesis by examining ES data for deleterious sequence changes in other CDH-related genes. This search revealed putatively deleterious sequence changes in four other genes that have been shown to cause diaphragm defects in humans and/or mice--FREM1, DES, PAX3 and MET. It is unclear whether these changes, alone or in aggregate, are contributing to the development of CDH in this family. However, their individual contribution is likely to be small compared to that of the frameshift mutation in FBN1. We conclude that ES can be used to identify both major and minor genetic factors that may contribute to CDH. These results also suggest that ES should be considered in the diagnostic evaluation of individuals and families with CDH, particularly when other diagnostic modalities have failed to reveal a molecular etiology.
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PMID:FBN1 contributing to familial congenital diaphragmatic hernia. 2573 69