Inguinal Ring RNA Sequencing Reveals Downregulation of Muscular Genes Related to Scrotal Hernia in Pigs

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.

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Genetic Background of Congenital Erythrocytosis

Genes ◽

10.3390/genes12081151 ◽

2021 ◽

Vol 12 (8) ◽

pp. 1151

Author(s):

Mary Frances McMullin

Keyword(s):

Receptor Gene ◽

Cell Mass ◽

Oxygen Affinity ◽

Young Age ◽

Erythropoietin Receptor ◽

Congenital Defects ◽

History Of ◽

Genetic Mechanisms ◽

High Oxygen Affinity ◽

Hemoglobin Variants

True erythrocytosis is present when the red cell mass is greater than 125% of predicted sex and body mass, which is reflected by elevated hemoglobin and hematocrit. Erythrocytosis can be primary or secondary and congenital or acquired. Congenital defects are often found in those diagnosed at a young age and with a family history of erythrocytosis. Primary congenital defects mainly include mutations in the Erythropoietin receptor gene but SH2B3 has also been implicated. Secondary congenital erythrocytosis can arise through a variety of genetic mechanisms, including mutations in the genes in the oxygen sensing pathway, with high oxygen affinity hemoglobin variants and mutations in other genes such as BPMG, where ultimately the production of erythropoietin is increased, resulting in erythrocytosis. Recently, mutations in PIEZ01 have been associated with erythrocytosis. In many cases, a genetic variant cannot be identified, leaving a group of patients with the label idiopathic erythrocytosis who should be the subject of future investigations. The clinical course in congenital erythrocytosis is hard to evaluate as these are rare cases. However, some of these patients may well present at a young age and with sometimes catastrophic thromboembolic events. There is little evidence to guide the management of congenital erythrocytosis but the use of venesection and low dose aspirin should be considered.

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Surgical Trap of a Routine Procedure. Scrotal Hernia with Concomitant Sliding of the Urinary Bladder – Case Report

Polish Journal of Surgery ◽

10.1515/pjs-2016-0007 ◽

2015 ◽

Vol 87 (11) ◽

Cited By ~ 2

Author(s):

Bartosz Cybułka ◽

Marek Podgórny ◽

Jacek Rapeła ◽

Andrzej Wach

Keyword(s):

Adipose Tissue ◽

Urinary Bladder ◽

Inguinal Canal ◽

Bladder Wall ◽

Greater Omentum ◽

Routine Procedure ◽

Scrotal Hernia ◽

Urinary Bladder Wall ◽

Amyand Hernia ◽

Visceral Adipose

AbstractThe content of the hernial sac may comprise peritoneal cavity elements, such as small and large bowel loops, visceral adipose tissue, the greater omentum, appendix (amyand hernia), and Meckel's diverticulum. The sliding of part of the urinary bladder wall to the inguinal canal is rare, being observed in 1%-4% (0.5%-3%) of inguinal hernia cases. Complete migration of the urinary bladder to the scrotum is considered a rare anomaly. As of today, 100 such cases have been described.

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Introductory Remarks

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s1431927600002646 ◽

1980 ◽

Vol 38 ◽

pp. 598-599

Author(s):

H. Mohri

Keyword(s):

Muscle Contraction ◽

Experimental Evidence ◽

Sea Urchin ◽

Constant Length ◽

Thin Filaments ◽

Bridge Formation ◽

Thick Filaments ◽

Sliding Mechanism ◽

Radial Spokes ◽

Cilia And Flagella

In 1959, Afzelius observed the presence of two rows of arms projecting from each outer doublet microtubule of the so-called 9 + 2 pattern of cilia and flagella, and suggested a possibility that the outer doublet microtubules slide with respect to each other with the aid of these arms during ciliary and flagellar movement. The identification of the arms as an ATPase, dynein, by Gibbons (1963)strengthened this hypothesis, since the ATPase-bearing heads of myosin molecules projecting from the thick filaments pull the thin filaments by cross-bridge formation during muscle contraction. The first experimental evidence for the sliding mechanism in cilia and flagella was obtained by examining the tip patterns of molluscan gill cilia by Satir (1965) who observed constant length of the microtubules during ciliary bending. Further evidence for the sliding-tubule mechanism was given by Summers and Gibbons (1971), using trypsin-treated axonemal fragments of sea urchin spermatozoa. Upon the addition of ATP, the outer doublets telescoped out from these fragments and the total length reached up to seven or more times that of the original fragment. Thus, the arms on a certain doublet microtubule can walk along the adjacent doublet when the doublet microtubules are disconnected by digestion of the interdoublet links which connect them with each other, or the radial spokes which connect them with the central pair-central sheath complex as illustrated in Fig. 1. On the basis of these pioneer works, the sliding-tubule mechanism has been established as one of the basic mechanisms for ciliary and flagellar movement.

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Novel Genetic Mechanisms in Development

Developmental Biology ◽

10.1016/j.ydbio.2006.04.005 ◽

2006 ◽

Author(s):

I CHOW

Keyword(s):

Genetic Mechanisms

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Herniation of the urinary bladder through a congenitally enlarged inguinal canal in a cat

Schweizer Archiv für Tierheilkunde ◽

10.1024/0036-7281.149.12.559 ◽

2007 ◽

Vol 149 (12) ◽

pp. 559-562 ◽

Cited By ~ 8

Author(s):

D. Zulauf ◽

K. Voss ◽

I. M. Reichler

Keyword(s):

Urinary Bladder ◽

Inguinal Canal

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Congenital defects: An evaluation and assessment of the state of the science

PsycEXTRA Dataset ◽

10.1037/e481292008-001 ◽

1981 ◽

Author(s):

Allen S. Goldman ◽

James W. Lash ◽

Delbert Dayton ◽

Daniel Nebert

Keyword(s):

The State ◽

Congenital Defects ◽

State Of The Science ◽

Evaluation And Assessment

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Estimation of muscle contraction forces and joint reaction forces at the low back and shoulder during drywall installation

PsycEXTRA Dataset ◽

10.1037/e577952012-019 ◽

2007 ◽

Cited By ~ 2

Author(s):

Lu Yuan ◽

Bryan Buchholz ◽

Laura Punnett ◽

David Kriebel

Keyword(s):

Muscle Contraction ◽

Low Back ◽

Joint Reaction Forces ◽

Reaction Forces ◽

Drywall Installation ◽

Joint Reaction

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Deficiency of (33P)2MeS-ADP Binding Sites on Platelets with Secretion Defect, Normal Granule Stores and Normal Thromboxane A2 Production

Thrombosis and Haemostasis ◽

10.1055/s-0038-1656090 ◽

1997 ◽

Vol 77 (05) ◽

pp. 0986-0990 ◽

Cited By ~ 66

Author(s):

Marco Cattaneo ◽

Rossana Lombardi ◽

Maddalena L Zighetti ◽

Christian Gachet ◽

Philippe Ohlmann ◽

...

Keyword(s):

Binding Sites ◽

Specific Binding ◽

Thromboxane A2 ◽

Normal Subjects ◽

Congenital Defects ◽

Normal Production ◽

Adp Receptor ◽

Partial Deficiency ◽

Induced Aggregation ◽

Platelet Secretion

SummaryBy the term “Primary Secretion Defect” (PSD), we mean a common heterogeneous group of congenital defects of platelet secretion, characterized by a normal primary wave of platelet aggregation induced by ADP and other agonists, a normal concentration of platelet granule contents, and normal production of thromboxane A2. The biochemical abnormalities responsible for PSD are not well known. Since a secretion defect similar to PSD is found in platelets that are severely deficient of binding sites for the ADP analogue 2MeS-ADP and do not aggregate in response to ADP, we tested the hypothesis that PSD platelets have moderately decreased 2MeS-ADP binding sites, which may be sufficient for normal ADP-induced aggregation but not for potentiating platelet secretion. The specific binding of [33P]2MeS-ADP to platelets from 3 PSD patients (347,443 and 490 sites/platelet; KD 2.8-3.9 nM) was lower than to platelets from 24 normal subjects (647 [530-1102]; KD = 3.8 [2.3-7.3]) (median [range]). Normal values were found in a fourth PSD patient (710; KD 3.7). The degree of inhibition of PGE1- induced cAMP increase by 0.1 |μM ADP was lower in patients than in controls. The secretion induced by the endoperoxide analogue U46619 from normal, acetylsalicylic acid-treated platelets under conditions that prevented the formation of large aggregates was potentiated by 1 fimol/1 ADP and inhibited by apyrase. These findings indicate that a partial deficiency of the platelet ADP receptor(s) might be responsible for the defect of platelet secretion in some PSD patients and that ADP potentiates platelet secretion independently of the formation of large aggregates and thromboxane A2 production.

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