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1.
Genes (Basel) ; 11(2)2020 01 21.
Article in English | MEDLINE | ID: mdl-31973088

ABSTRACT

Scrotal hernias (SH) are common congenital defects in commercial pigs, characterized by the presence of abdominal contents in the scrotal sac, leading to considerable production and animal welfare losses. Since the etiology of SH remains obscure, we aimed to identify the biological and genetic mechanisms involved in its occurrence through the whole transcriptome analysis of SH affected and unaffected pigs' inguinal rings. From the 22,452 genes annotated in the pig reference genome, 13,498 were expressed in the inguinal canal tissue. Of those, 703 genes were differentially expressed (DE, FDR < 0.05) between the two groups analyzed being, respectively, 209 genes upregulated and 494 downregulated in the SH-affected group. Thirty-seven significantly overrepresented GO terms related to SH were enriched, and the most relevant biological processes were muscular system, cell differentiation, sarcome reorganization, and myofibril assembly. The calcium signaling, hypertrophic cardiomyopathy, dilated cardiomyopathy, and cardiac muscle contraction were the major pathways possibly involved in the occurrence of the scrotal hernias. The expression profile of the DE genes was associated with the reduction of smooth muscle differentiation, followed by low calcium content in the cell, which could lead to a decreased apoptosis ratio and diminished muscle contraction of the inguinal canal region. We have demonstrated that genes involved with musculature are closely linked to the physiological imbalance predisposing to scrotal hernia. According to our study, the genes MYBPC1, BOK, SLC25A4, SLC8A3, DES, TPM2, MAP1CL3C, and FGF1 were considered strong candidates for future evaluation.


Subject(s)
Hernia, Inguinal/genetics , Inguinal Canal/physiopathology , Transcriptome/genetics , Animals , Base Sequence/genetics , Gene Expression Profiling/methods , Genome/genetics , Hernia, Inguinal/physiopathology , Inguinal Canal/physiology , Male , Scrotum/metabolism , Scrotum/physiopathology , Sequence Analysis, RNA/methods , Swine , Swine Diseases , Exome Sequencing/methods
2.
Biomed Res Int ; 2017: 5926370, 2017.
Article in English | MEDLINE | ID: mdl-29445742

ABSTRACT

OBJECTIVES: To assess the incidence of testicular appendices (Tas), epididymal anomalies (EAs), and processus vaginalis (PV) patency in patients with undescended testis (UT) according to testicular position and to compare them with human fetuses. METHODS: We studied 85 patients (108 testes) with cryptorchidism and compared the features with those of 15 fetuses (30 testes) with scrotal testes. We analyzed the relationships among the testis and epididymis, patency of PV, and the presence of TAs. We used the Chi-square test for statistical analysis (p < 0.05). RESULTS: In 108 UT, 72 (66.66%) had PV patent, 67 (62.03%) had TAs, and 39 (36.12%) had EAs. Of the 108 UT, 14 were abdominal (12.96%; 14 had PV patency, 9 TAs, and 7 EAs); 81 were inguinal (75%; 52 had PV patency, 45 TAs, and 31 EAs), and 13 were suprascrotal (12.03%; 6 had PV patency, 13 TAs, and 1 EAs). The patency of PV was more frequently associated with EAs (p = 0.00364). The EAs had a higher prevalence in UT compared with fetuses (p = 0.0005). CONCLUSIONS: Undescended testis has a higher risk of anatomical anomalies and the testes situated in abdomen and inguinal canal have a higher risk of presenting patency of PV and EAs.


Subject(s)
Cryptorchidism/physiopathology , Epididymis/abnormalities , Peritoneum/abnormalities , Testis/abnormalities , Child , Child, Preschool , Epididymis/physiopathology , Fetus , Humans , Infant , Inferior Colliculi/abnormalities , Inferior Colliculi/physiopathology , Inguinal Canal/abnormalities , Inguinal Canal/physiopathology , Male , Peritoneum/physiopathology , Risk Factors , Testicular Hydrocele/physiopathology , Testis/physiopathology
3.
In. Meneghello Rivera, Julio. Diálogos en pediatría. Santiago de Chile, Mediterráneo, 1990. p.125-30, ilus. (Diálogos en Pediatría, 3).
Monography in Spanish | LILACS | ID: lil-156660
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