Altered Transcript Levels of MMP13 and VIT Genes in the Muscle and Connective Tissue of Pigs with Umbilical Hernia.
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SUBMITTER: Wozniak J
PROVIDER: S-EPMC10606093 | biostudies-literature | 2023 Oct
REPOSITORIES: biostudies-literature
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Altered Transcript Levels of <i>MMP13</i> and <i>VIT</i> Genes in the Muscle and Connective Tissue of Pigs with Umbilical Hernia.
Wozniak Jakub J Loba Weronika W Wysocka Alicja A Dzimira Stanislaw S Przadka Przemyslaw P Switonski Marek M Nowacka-Woszuk Joanna J
Genes 20231001 10
Umbilical hernia (UH) and inguinal hernia (IH) are among the most common defects in pigs, affecting their welfare and resulting in economic losses. In this study, we aimed to verify the association of previously reported differences in transcript levels of the <i>ACAN</i>, <i>COL6A5</i>, <i>MMP13</i>, and <i>VIT</i> genes with the occurrence of UH and IH. We examined mRNA levels in muscle and connective tissue from 68 animals-34 affected by UH and 34 controls. In a second cohort, we examined ing ...[more]
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Project description:BackgroundUmbilical Hernia (UH) is characterized by the passage of part of the intestine through the umbilical canal forming the herniary sac. There are several potential causes that can lead to the umbilical hernia such as bacterial infections, management conditions and genetic factors. Since the genetic components involved with UH are poorly understood, this study aimed to identify polymorphisms and genes associated with the manifestation of umbilical hernia in pigs using exome and transcriptome sequencing in a case and control design.ResultsIn the exome sequencing, 119 variants located in 58 genes were identified differing between normal and UH-affected pigs, and in the umbilical ring transcriptome, 46 variants were identified, located in 27 genes. Comparing the two methodologies, we obtained 34 concordant variants between the exome and transcriptome analyses, which were located in 17 genes, distributed in 64 biological processes (BP). Among the BP involved with UH it is possible to highlight cell adhesion, cell junction regulation, embryonic morphogenesis, ion transport, muscle contraction, within others.ConclusionsWe have generated the first exome sequencing related to normal and umbilical hernia-affected pigs, which allowed us to identify several variants possibly involved with this disorder. Many of those variants present in the DNA were confirmed with the RNA-Seq results. The combination of both exome and transcriptome sequencing approaches allowed us to better understand the complex molecular mechanisms underlying UH in pigs and possibly in other mammals, including humans. Some variants found in genes and other regulatory regions are highlighted as strong candidates to the development of UH in pigs and should be further investigated.
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Project description:IntroductionUmbilical hernia usually manifests as a bulging of umbilicus. Invisible incarcerated umbilical hernia has never been reported.Case presentationA 53-years-old obese woman admitted to hospital with abdominal pain and vomitus one day after discharged from other hospital, was managed conservatively as an adhesion small bowel obstruction (ASBO) for seven days. There was history of caesarean section 20 years ago. Abdomen was bloated, there was transverse scar wound in hypogastric region and no signs of external abdominal hernia. Plain abdominal x-ray showed dilated small bowel located in the central part of the abdomen. Abdominal CT scan was done to determine the other cause besides adhesion, it showed incarcerated umbilical hernia and gallbladder stone. Herniorrhaphy and laparoscopic cholecystectomy were performed. During surgery, there was a loop of vital small bowel, trapped in the umbilical defect. Mayo method was performed to close the defect.DiscussionThe other causes of small bowel obstruction should be determined besides adhesion, infectious disease and trauma. Umbilical hernia should be considered in obese women even without bulging in the umbilicus. Abdominal CT scan with oral water-soluble contrast is preferred as diagnostic tool to identify the cause of small bowel obstruction.ConclusionInvisible incarcerated umbilical hernia is possible in obese patients. Routine palpation on potential sites of developing hernia and abdominal CT Scan are necessary to be done in obese patients with small bowel obstruction.
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Project description:BackgroundBoar taint is an unpleasant odor and flavor of the meat and occurs in a high proportion of uncastrated male pigs. Androstenone, a steroid produced in testis and acting as a sex pheromone regulating reproductive function in female pigs, is one of the main compounds responsible for boar taint. The primary goal of the present investigation was to determine the differential gene expression of selected candidate genes related to levels of androstenone in pigs.ResultsAltogether 2560 boars from the Norwegian Landrace and Duroc populations were included in this study. Testicle samples from the 192 boars with most extreme high or low levels of androstenone in fat were used for RNA extraction, and 15 candidate genes were selected and analyzed by real-competitive PCR analysis. The genes Cytochrome P450 c17 (CYP17A1), Steroidogenic acute regulatory protein (STAR), Aldo-keto reductase family 1 member C4 (AKR1C4), Short-chain dehydrogenase/reductase family member 4 (DHRS4), Ferritin light polypeptide (FTL), Sulfotransferase family 2A, dehydroepiandrosterone-preferring member 1 (SULT2A1), Cytochrome P450 subfamily XIA polypeptide 1 (CYP11A1), Cytochrome b5 (CYB5A), and 17-beta-Hydroxysteroid dehydrogenase IV (HSD17B4) were all found to be significantly (P < 0.05) up-regulated in high androstenone boars in both Duroc and Landrace. Furthermore, Cytochrome P450 c19A2 (CYP19A2) was down-regulated and progesterone receptor membrane component 1 (PGRMC1) was up-regulated in high-androstenone Duroc boars only, while CYP21 was significantly down-regulated (2.5) in high-androstenone Landrace only. The genes Nuclear Receptor co-activator 4 (NCOA4), Sphingomyrlin phosphodiesterase 1 (SMPD1) and 3beta-hydroxysteroid dehydrogenase (HSD3B) were not significantly differentially expressed in any breeds. Additionally, association studies were performed for the genes with one or more detected SNPs. Association between SNP and androstenone level was observed in CYB5A only, suggesting cis-regulation of the differential transcription in this gene.ConclusionA large pig material of highly extreme androstenone levels is investigated. The current study contributes to the knowledge about which genes that is differentially expressed regard to the levels of androstenone in pigs. Results in this paper suggest that several genes are important in the regulation of androstenone level in boars and warrant further evaluation of the above mentioned candidate genes, including analyses in different breeds, identification of causal mutations and possible gene interactions.
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Project description:Rapid metabolic responses to pathogens are essential for plant survival and depend on numerous transcription factors. Mediator is the major transcriptional co-regulator for integration and transmission of signals from transcriptional regulators to RNA polymerase II. Using four Arabidopsis Mediator mutants, med16, med18, med25 and cdk8, we studied how differences in regulation of their transcript and metabolite levels correlate to their responses to Pseudomonas syringae infection. We found that med16 and cdk8 were susceptible, while med25 showed increased resistance. Glucosinolate, phytoalexin and carbohydrate levels were reduced already before infection in med16 and cdk8, but increased in med25, which also displayed increased benzenoids levels. Early after infection, wild type plants showed reduced glucosinolate and nucleoside levels, but increases in amino acids, benzenoids, oxylipins and the phytoalexin camalexin. The Mediator mutants showed altered levels of these metabolites and in regulation of genes encoding key enzymes for their metabolism. At later stage, mutants displayed defective levels of specific amino acids, carbohydrates, lipids and jasmonates which correlated to their infection response phenotypes. Our results reveal that MED16, MED25 and CDK8 are required for a proper, coordinated transcriptional response of genes which encode enzymes involved in important metabolic pathways for Arabidopsis responses to Pseudomonas syringae infections.
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Project description:ImportanceUmbilical hernia repair is one of the most commonly performed general surgical procedures. However, there is little consensus about the factors that lead to umbilical hernia recurrence.ObjectiveTo better understand the factors associated with long-term umbilical hernia recurrence.Design, setting, and participantsA retrospective cohort of 332 military veteran patients who underwent umbilical hernia repair was studied between January 1, 1998, and December 31, 2008, at the VA Boston Healthcare System. Recurrence and mortality outcomes were tracked from that period until June 1, 2014. Data were collected on patient characteristics, operative, and postoperative factors and univariate and multivariable analyses were used to assess which factors were significantly associated with umbilical hernia recurrence and mortality. All patients with primary umbilical hernia repair, with or without a concurrent unrelated procedure, were included in the study. Patients excluded were those who underwent umbilical hernia repair as a part of another major planned procedure with abdominal incisions. Data were collected from June 1, 2014, to November 1, 2015. Statistical analysis was performed from November 2, 2015, to April 1, 2016.Main outcomes and measuresThe primary study outcomes were umbilical hernia recurrence and death.ResultsOf the 332 patients in this study, 321 (96.7%) were male, mean age was 58.4 years, and mean (SD) time of follow-up was 8.5 (4.1) years. The hernia recurrence rate was 6.0% (n = 20) at a mean 3.1 years after index repair (median, 1.0-year; range, 0.33-13 years). The primary suture repair recurrence rate was 9.8% (16 of 163 patients), and the mesh repair recurrence rate was 2.4% (4 of 169 patients). On univariate analysis, ascites (P = .02), liver disease (P = .02), diabetes (P = .04), and primary suture (nonmesh) repairs (P = .04) were significantly associated with increased recurrence rates. Patients who had a history of hernias (125 [39%]) were less likely to have umbilical hernia recurrences (χ21 = 4.65, P = .03). On multivariable regression analysis, obesity and ascites were associated with significantly increased odds ratios of recurrence of 3.3 (95% CI, 1.0-10.1) and 8.0 (95% CI, 1.8-34.4), respectively. Mesh repair was seen to decrease recurrence with odds of 0.28 (95% CI, 0.08-0.95). There was no significant difference in complication rates between mesh repair and primary suture repair. The survival rate was 73% (n = 242) at the end of the study. Factors associated with mortality were older age, smoking, liver disease, ascites, emergency or semiurgent repair, and need for intraoperative bowel resection.Conclusions and relevanceAscites, liver disease, diabetes, obesity, and primary suture repair without mesh are associated with increased umbilical hernia recurrence rates. Elective umbilical hernia repair with mesh should be considered in patients with multiple comorbidities given that the use of mesh offers protection from recurrence without major morbidity.
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Project description:IntroductionUmbilical hernia repair, despite its perceived simplicity, is associated with recurrence between 2.7 and 27%, in mesh repair and non mesh repair respectively. Many factors are recognized contributors to recurrence however multiple defects in the linea alba, known to occur in up to 30% of patients, appear to have been overlooked by surgeons.AimsThis systematic review assessed reporting of second or multiple linea alba defects in patients undergoing umbilical hernia repair to establish if these anatomical variations could contribute to recurrence along with other potential factors.MethodsA systematic review of all published English language articles was undertaken using databases PubMed, Embase, Web of Science and Cochrane Library from January 2014 to 2019. The search terms 'Umbilical hernia' AND 'repair' AND 'recurrence' were used across all databases. Analysis was specified in advance to avoid selection bias, was registered with PROSPERO (154173) and adhered to PRISMA statement.ResultsSix hundred and forty-six initial papers were refined to 10 following article review and grading. The presence of multiple linea alba defects as a contributor to recurrence was not reported in the literature. One paper mentioned the exclusion of six participants from their study due multiple defects. In all 11 factors were significantly associated with umbilical hernia recurrence. These included: large defect, primary closure without mesh, high BMI in 5/10 publications; smoking, diabetes mellitus, surgical site Infection (SSI) and concurrent hernia in 3/10. In addition, the type of mesh, advanced age, liver disease and non-closure of the defect were identified in individual papers.ConclusionThis study identified many factors already known to contribute to umbilical hernia recurrence in adults, but the existence of multiple defects in the linea, despite it prevalence, has evaded investigators. Surgeons need to be consider documentation of this potential confounder which may contribute to recurrence.
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Project description:IntroductionUmbilical hernias are found in 2% of the American adult population with increasing prevalence in overweight and multiparous women. A mesh repair is considered to be a suitable option for those desiring non-cosmetic surgical repair. Despite the mesh plug's reported value in reduction of the recurrence of umbilical hernia from 11% to 1%, there is an increased risk in de-vascularizing the umbilicus with its use.Presentation of caseWe present a case which avoids fascial incisions near the umbilicus, thus preserving the blood supply employing sutures to reduce the small abdominal wall defect which is then further reinforced by overlying rectus muscle plication.Discussion of caseHernia repair can be associated with a host of issues, minor and major, including regional tissue ischemia and the distortion of natural anatomy, likely due to ischemia of the epigastric vessels. Abdominoplasty is a suitable option for patients with redundancy of the abdominal skin and laxity abdominal wall musculature. Abdominoplasty has excellent exposure and correction of abdominal wall hernias. This "anatomic repair" employing sutures to reduce the small abdominal wall defect which is then further reinforced by overlying rectus muscle plication can be used in place of a mesh overlay for the purposes of umbilical hernia repair especially when the hernia may be asymptomatic.ConclusionAbdominoplasty uniquely allows for an open hernia repair when anticipated or discovered at the time of surgery and is considered a true anatomical repair of an umbilical hernia which does not necessitates the use of foreign materials.
| S-EPMC9577829 | biostudies-literature