Dataset Information

A Comprehensive Review: Molecular and Genetic Background of Indirect Inguinal Hernias

ABSTRACT:

Background

The occurrence of indirect inguinal hernias (IIH) is 5 times more prevalent than that of direct inguinal hernias (IH) and it is 7 times more common in males, owing to the attendance of the processus vaginalis (PV) throughout testicular descent.

Summary

In children, the immense mainstream of IH is indirect. The progress of IIH development in children is instigated with a patent PV, which is mostly treated by simple herniorrhaphy. Syndromes of the collagen, microfibril, elastin, and glycosaminoglycan constituents of the extracellular matrix may attend to the development of IH. Our recent research showed that the lack of epithelial-mesenchymal transition (EMT) in children contributes to the development of IIH, while the scenario is defined as the opposite in adults. However, there is still a lack of knowledge on all of the genetic and molecular causes of the disease.

Key Messages

Here we aimed to review the published genetic background of IH, the deficiencies of connective tissue causing the disease, recently defined molecular pathways involved including EMT, and possible recurrence reasons. This comprehensive study can deliver an analytic outline aiding to define patients with IH combined with fundamental genetic diseases.

SUBMITTER: Somuncu S

PROVIDER: S-EPMC8543302 | biostudies-literature |

REPOSITORIES: biostudies-literature

ACCESS DATA

Similar Datasets

Project description:ImportanceDespite availability of evidence-based guidelines for surgery, many patients receive guideline-discordant care. Reasons for this are largely unknown. For example, evidence-based guidelines recommend a minimally invasive approach for persons with bilateral or recurrent unilateral inguinal hernias. Benefits are also noted for primary unilateral inguinal hernia. However, findings from previous quantitative research indicate that only 26% of patients receive this treatment and only 42% of surgeons offer a minimally invasive approach, even for recurrent or bilateral hernias.ObjectiveTo explore factors associated with surgeon choice of approach (minimally invasive vs open) in inguinal hernia repair as a tool to gain an understanding of guideline-discordant care.Design, setting, and participantsQualitative study performed as part of a larger explanatory sequential mixed methods design. Purposive sampling was used to recruit 21 practicing surgeons from a large statewide quality collaborative who were diverse with regard to practice type, geographic location, and surgical specialty. Qualitative interviews consisted of a clinical vignette, followed by semi-structured interview questions. Through thematic analysis using qualitive data analysis software, patterns within the data were located, analyzed, and identified. All data were collected between April 24 and July 31, 2018.ExposureClinical vignette as part of the qualitative interviews.Main outcomes and measuresCapture of surgical approaches and factors motivating decision-making for inguinal hernia repair.ResultsOf the 21 participating surgeons, 17 (81%) were men, 18 (86%) were White, and all were 35 years of age or older. Data revealed 3 dominant themes: surgeon preference and autonomy (eg, favoring one approach over the other), access and resources (eg, availability of robot), and patient characteristics (eg, age, comorbidities).Conclusions and relevanceDecision-making for the approach to inguinal hernia repair is largely influenced by surgeon preference and access to resources rather than patient factors. Although a one-size-fits-all approach is not recommended, the operative approach should ideally be informed by patient factors, including hernia characteristics. Addressing surgeon preference and available resources with a clinician-facing decision aid may provide an opportunity to optimize care for patients undergoing inguinal hernia repair.

Project description:The Hui minority is predominantly composed of Chinese-speaking Islamic adherents distributed throughout China, of which the individuals are mainly concentrated in Northwest China. In the present study, we employed the length and sequence polymorphisms-based typing system of 231 molecular markers, i.e., amelogenin, 22 phenotypic-informative single nucleotide polymorphisms (PISNPs), 94 identity-informative single nucleotide polymorphisms (IISNPs), 24 Y-chromosomal short tandem repeats (Y-STRs), 56 ancestry-informative single nucleotide polymorphisms (AISNPs), 7 X-chromosomal short tandem repeats (X-STRs), and 27 autosomal short tandem repeats (A-STRs), into 90 unrelated male individuals from the Chinese Northwest Hui group to comprehensively explore its forensic characteristics and genetic background. Total of 451 length-based and 652 sequence-based distinct alleles were identified from 58 short tandem repeats (STRs) in 90 unrelated Northwest Hui individuals, denoting that the sequence-based genetic markers could pronouncedly provide more genetic information than length-based markers. The forensic characteristics and efficiencies of STRs and IISNPs were estimated, both of which externalized high polymorphisms in the Northwest Hui group and could be further utilized in forensic investigations. No significant departure from the Hardy-Weinberg equilibrium (HWE) expectation was observed after the Bonferroni correction. Additionally, four group sets of reference population data were exploited to dissect the genetic background of the Northwest Hui group separately from different perspectives, which contained 26 populations for 93 IISNPs, 58 populations for 17 Y-STRs, 26 populations for 55 AISNPs (raw data), and 109 populations for 55 AISNPs (allele frequencies). As a result, the analyses based on the Y-STRs indicated that the Northwest Hui group primarily exhibited intimate genetic relationships with reference Hui groups from Chinese different regions except for the Sichuan Hui group and secondarily displayed close genetic relationships with populations from Central and West Asia, as well as several Chinese groups. However, the AISNP analyses demonstrated that the Northwest Hui group shared more intimate relationships with current East Asian populations apart from reference Hui group, harboring the large proportion of ancestral component contributed by East Asia.