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)

Barraquer-Simons syndrome, a disorder of unknown etiology, is characterized by a cephalothoracic lipodystrophy. We present 2 patients treated with a bilateral free transverse rectus abdominis myocutaneous (TRAM) flap to restore facial contour. Our technique of using a muscle component to fill the cheek defect was based on our experience with free muscle transfer in facial reanimation. In comparison with adipose tissue, muscle tissue does not show a tendency for ptosis because of its consistency and firm attachment of the muscle surface to the surrounding tissues. These cases demonstrate the possibility for the use of simultaneous dissection of the face and flaps, and the reliability of the vascular pedicle. The stability of the abdominal wall was secured by closure of the rectus sheath over Teflon mesh, which has been proven to prevent hernia. Our long-term follow-up demonstrates a stable symmetrical facial appearance.
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PMID:Facial contour restoration in Barraquer-Simons syndrome using two free TRAM flaps: Presentation of two case reports and long-term follow-up. 1221 Sep 68

Congenital diaphragmatic hernia (CDH) is a serious birth defect that accounts for 8% of all major birth anomalies. Approximately 40% of cases occur in association with other anomalies. As sporadic complex CDH likely has a significant impact on reproductive fitness, we hypothesized that de novo variants would account for the etiology in a significant fraction of cases. We performed exome sequencing in 39 CDH trios and compared the frequency of de novo variants with 787 unaffected controls from the Simons Simplex Collection. We found no significant difference in overall frequency of de novo variants between cases and controls. However, among genes that are highly expressed during diaphragm development, there was a significant burden of likely gene disrupting (LGD) and predicted deleterious missense variants in cases (fold enrichment = 3.2, P-value = 0.003), and these genes are more likely to be haploinsufficient (P-value = 0.01) than the ones with benign missense or synonymous de novo variants in cases. After accounting for the frequency of de novo variants in the control population, we estimate that 15% of sporadic complex CDH patients are attributable to de novo LGD or deleterious missense variants. We identified several genes with predicted deleterious de novo variants that fall into common categories of genes related to transcription factors and cell migration that we believe are related to the pathogenesis of CDH. These data provide supportive evidence for novel genes in the pathogenesis of CDH associated with other anomalies and suggest that de novo variants play a significant role in complex CDH cases.
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PMID:Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia. 2603 37