Intrathoracic Gastric Volvulus presenting with GIT Bleed.
Ontology highlight
ABSTRACT:
SUBMITTER: Kadam R
PROVIDER: S-EPMC5538605 | biostudies-other | 2017 Apr-Jun
REPOSITORIES: biostudies-other
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Project description:An intrathoracic mass, which persisted during the remaining pregnancy, was first seen during routine ultrasound examination performed at 20 weeks gestation. After birth, the child was asymptomatic. Echocardiography showed the mass to be located intrapericardially. The mass was electively resected via sternotomy 3 weeks after the birth. Microscopic examination showed normal lung tissue surrounded by pleura corresponding to the diagnosis of extralobar pulmonary sequestration. To the authors' knowledge, this is the earliest described detection of such a lesion. Furthermore, this article reports the unique finding of a feeding vessel from the right pulmonary artery.
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Project description:Canine gastric dilatation-volvulus (GDV) is a common life-threatening condition occurring primarily in large and giant breeds with a 3.9% to 36.7% lifetime risk. GDV is a complex disease with risk factors including age, diet, behavior, family history, and genetics. The genetic correlates of GDV have not previously been systematically explored. We undertook multiplatform genome-wide association analysis (GWAS) of 253 dogs including 106 healthy dogs and 147 dogs with at least one GDV episode. The study included ten dog breeds enriched for Borzoi, German Shepherd (GSD), Great Dane, and Standard Poodle. SNP array genotyping was performed on constitutional DNA from all 241 samples to identify GDV-associated SNPs and CNVs. To increase the coverage of our study we performed imputation analysis of the SNP data as well as additional whole genome sequencing (WGS) on a subset of 33 dogs (15 healthy dogs and 18 GDV patients from the three most represented breeds). Twenty-one patients were genotyped by both SNP and WGS platforms. The GWAS was conducted across breeds as well as on specific breeds using a mixed linear model adjusting for relatedness, population structure and sex. After genome-wide Bonferroni correction, we identified a significant protective GDV-associated SNP, rs851737064, occurring in an intergenic region, across all breeds. The signal was most significant in Collies, German Shorthaired Pointers, and Great Danes. Subsequent focused analysis across these three breeds identified 12 additional independent, protective and deleterious SNPs with significant GDV association. Additional GWAS conducted on Borzoi, GSD and Great Dane yielded significant genome-wide GDV associations in 11 independent SNPs, while that in Borzoi alone identified 2 independent GDV-associated SNPs. We then used WGS data to validate the imputation analysis. Notable significant SNPs included genes involved in gastric tone and motility including VHL, NALCN, and PRKCZ. From the WGS data we also detected two independent GDV-associated SNPs in Borzoi, GSD and Great Dane breeds on an intergenic region on chromosome 7 not covered by previous analyses. These data provide important new information regarding canine GDV risk factors and facilitate generation of hypotheses regarding the genetic and molecular underpinnings this syndrome.
2020-12-01 | GSE141128 | GEO
Project description:Video 1An overview of the case, background information on gastric volvulus, 3-dimensional models of the different types of gastric volvuli, and novel endoscopic and surgical techniques.
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Project description:We describe a case of a patient with an intrathoracic gastric perforation, 6 months after she underwent a gastric banding procedure for the treatment of morbid obesity. After an urgent laparotomy during which the stomach was replaced and oversewn, she recovered uneventfully. The possible mechanism of this severe complication is discussed.
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Project description:The concurrence of wandering spleen, organoaxial gastric volvulus, and pancreatic volvulus is very rare. They have been associated with symptoms such as severe abdominal pain, abdominal distention, and vomiting. However, the diagnosis remains complicated and any delay can result in ischemia and necrosis of the organs involved. In this case presentation, we present a unique case involving a 14-year-old girl who presented initially with acute abdominal pain. Assessment with enhanced computed tomography scan led to the diagnosis of wandering spleen, organoaxial gastric volvulus, and pancreatic volvulus, in addition to cholestasis, making it the first study to report on the simultaneous occurrence of this triad and cholestasis.
| S-EPMC6543132 | biostudies-literature
Project description:Canine gastric dilatation-volvulus (GDV) is a common life-threatening condition occurring primarily in large and giant breeds with a 3.9% to 36.7% lifetime risk. The genetic correlates of GDV have not previously been systematically explored. We undertook an inter-breed genome-wide association analysis (GWAS) of 253 dogs from ten breeds including 106 healthy dogs and 147 dogs with at least one GDV episode. SNP array genotyping followed by imputation was conducted on 241 samples to identify GDV-associated single-nucleotide polymorphisms (SNPs) and copy number variations (CNVs). A subset of 33 dogs (15 healthy dogs and 18 GDV patients from the three most represented breeds) was characterized by whole genome sequencing (WGS). After genome-wide Bonferroni correction, we identified a significant putatively protective intergenic SNP (rs851737064) across all breeds. The signal was most significant in Collies, German Shorthaired Pointers, and Great Danes. Subsequent focused analysis across these three breeds identified 12 significant additional putatively protective or deleterious SNPs. Notable significant SNPs included those occurring in genes involved in gastric tone and motility including VHL, NALCN, and PRKCZ. These data provide important new clues to canine GDV risk factors and facilitate generation of hypotheses regarding the genetic and molecular underpinnings this syndrome.
| S-EPMC7694454 | biostudies-literature
Project description: Not available
| S-EPMC8058105 | biostudies-literature
Project description:This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ Onchocerca volvulus is a filarial nematode parasite of humans, causing Onchocerciasis, or River Blindness, which affects over 37 million people, mainly in Africa. It is a severely debilitating disease, which is transmitted to humans by black fly. This project aims to undertake high-throughput sequencing of Onchocerca volvulus transcriptome for de novo assembly of transcripts. The main objective of this project is to recognize genes expressed in given life stages.
2013-01-28 | E-ERAD-67 | biostudies-arrayexpress
Project description:BackgroundMorgagni's hernia (MH) is a rare type of congenital diaphragmatic hernia with limited available literature. Late presentations are infrequent and the ones complicated due to gastric volvulus are even rarer. Another uncommon association of MH is with small bowel diverticulosis. We herein discussed a case of gastric volvulus as the content of MH, and small bowel diverticulosis present in a patient concomitantly.Case presentationA 30 year old woman, who presented with a one year history of epigastric burning and indigestion, occasionally associated with pain and vomiting. On clinical examination, no clue to the diagnosis could be ascertained. Her chest and abdominal x-ray indicated an abnormal air-fluid level at right hemithorax, which prompted a Computed Tomography (CT) scan, showing organo-axial gastric volvulus. MH with gastric volvulus was observed during laparotomy and trans-thoracic reduction of the contents was performed, along with repair of the defect. Multiple intestinal diverticuli were also found and the largest diverticulum was excised.ConclusionsGastric volvulus through MH is a rare but potentially life-threatening condition. Non-specific symptoms like epigastric pain and vomiting can delay the diagnosis and management, however, advanced imaging techniques like CT scan can speed up this process. After the diagnosis is made, surgical repair should be attempted regardless of symptoms.
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