Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with inguinal hernia.

PURPOSE: Inguinal hernia repair is one of the most common procedures in general surgery. Males are seven times more likely than females to develop a hernia and have a 27 % lifetime 'risk' of inguinal hernia repair. Several studies have demonstrated that a positive family history is an important risk factor for the development of primary inguinal hernia, which indicates that genetic factors may play important roles in the etiology of the disease. So far, the contribution of genetic factors and underlying mechanisms for inguinal hernia remain largely unknown. The aim of this study was to investigate a multiplex Estonian family with inguinal hernia across four generations. METHODS: The whole-exome sequencing was carried out in three affected family members and subsequent mutation screening using Sanger sequencing was performed in ten family members (six affected and four unaffected). RESULTS: Whole-exome sequencing in three affected family members revealed a heterozygous missense mutation c.88880A>C (p.Lys29627Thr; RefSeq NM_001256850.1) in the highly conserved myosin-binding A-band of the TTN gene. Sanger sequencing demonstrated that this mutation cosegregated with the disease in this family and was not present in ethnically matched control subjects. CONCLUSION: We report that missense variant in the A-band of TTN is the strongest candidate mutation for autosomal-dominant inguinal hernia with incomplete penetrance.

Prospective study evaluating the impact of severity of chronic pain on quality of life after inguinal hernioplasty.

PURPOSE: The definition of chronic pain after inguinal hernioplasty and the methods of its assessment vary a great deal, which make it complicated to conduct meta-analyses. The primary aim of the present prospective study was to evaluate at which pain severity degree the quality-of-life scores will be reduced. METHOD: A prospective study of patients operated for inguinal hernia was conducted. A pain questionnaire and a quality-of-life (QoL) questionnaire were completed. RESULTS: Altogether, 370 patients were investigated and included in analysis. Of them, 33.8% experienced pain during different activities. Compared to the non-pain response group, significantly lower QoL scores for the Bodily pain domain were reported by patients who gave 1, 2, or 3 positive responses to the pain questionnaire. Patients with no pain as well as patients who gave 1 positive response to the pain questionnaire and whose VAS score was ≤20 had similar QoL scores for all domains. Patients who gave 1 positive response to the pain questionnaire and whose VAS score was >20, and patients who gave two or more positive responses to the pain questionnaire, showed significantly lower QoL scores in most of the domains compared with the non-pain group. When the patients who gave 1 positive response to the pain questionnaire and whose VAS score was ≤20 were excluded from the group of patients with pain, the rate of chronic pain was 19.7%. Considering the above result, the reduction in the rate of chronic pain from 33.8 to 19.7% was statistically significant. CONCLUSION: Pain scores 20 mm or less on the VAS (0 to 100 mm) have no impact on the patients' quality of life. Uniform assessment methods of chronic pain should be developed to improve the quality of research.

Three-Year Results of a Single-Centre Single-Blinded Randomised Study Evaluating the Impact of Mesh Pore Size on Chronic Pain after Lichtenstein Hernioplasty.

BACKGROUND AND AIMS: The aim of the present study was to determine whether usage of mesh with larger pores, compared with mesh with smaller pores, would result in a decreased rate of chronic pain at 3-year follow-up. According to earlier published short-term results, differences in mesh pore size do not influence the rate of chronic pain. MATERIAL AND METHODS: The patients were randomized into two study groups for which meshes with similar weight but different pore size were used: the UM group received Ultrapro mesh (pore size 3-4 mm) and the OM group received Optilene LP mesh (pore size 1 mm). Pain scores were measured on a visual analog scale. The feeling of a foreign body was a yes-or-no question. RESULTS: A total of 65 patients in the UM group and 63 patients in the OM group were included in analysis. Of the patients, 33.9% in the UM group and 15.9% in the OM group reported having experienced pain during different activities at 3-year follow-up (P = 0.025). Comparison with the results of 6-month follow-up (46.3% in the UM group, 34.3% in the OM group) showed that the rate of chronic pain had decreased significantly in the OM group (P = 0.009) but not in the UM group (P = 0.113). The feeling of a foreign body in the inguinal region was experienced by 23.1% of the patients in the UM group and by 15.9% in the OM group (P = 0.375). There was one hernia recurrence in the OM group. Severe preoperative pain and younger age were identified as risk factors for development of chronic pain. CONCLUSIONS: Mesh with larger pores, compared with mesh with smaller pores, has no advantages in reducing the rate of chronic pain. We speculate that the reason for the higher rate of chronic pain in the study group where the mesh with larger pores was used might have been the different composition of the meshes at implantation. Also, it is possible as development of chronic pain after inguinal hernia repair is multifactorial, we failed to find a plausible explanation for this difference. Low recurrence rates were achieved with both meshes used in our study.

Three-year results of randomised clinical trial comparing lightweight mesh with heavyweight mesh for inguinal hernioplasty.

PURPOSE: The aim of the present randomised study was to find out whether usage of lightweight mesh in inguinal hernia repair, compared with heavyweight mesh, results in decreased incidence of chronic groin pain and foreign body feeling, as well as to evaluate the risk factors for chronic pain development and hernia recurrences. METHODS: The patients were randomised into the heavyweight mesh (HW) group and lightweight mesh (LW) group. A tension-free mesh repair using the Lichtenstein technique was performed on all patients. Pain scores during different activities were measured on visual analogue scale. All patients underwent a clinical examination for any evidence of hernia recurrence. RESULTS: Of the patients, 17.2 % in the HW group and 29.3 % in the LW group reported that they experienced pain at 3-year follow-up (P = 0.1323). Pain was most often reported during physical activity. The median VAS score of all studied activities was 30.5 in the HW group and 30.0 in the LW group. There were more patients in the HW group than in the LW group who stated that they could feel the mesh in the groin (27.6 vs. 20.7 %, P = 0.3967). Among all patients, 42.9 % who had severe pain preoperatively also reported pain during different activities and 19.6 % of the patients who did not have severe pain preoperatively reported pain during different activities (P = 0.0481). At 3-year follow-up, there was 1 hernia recurrence in the HW group and 1 hernia recurrence in the LW group. CONCLUSIONS: Our study shows that compared with HW mesh, LW mesh has no advantage in reducing chronic groin pain and foreign body feeling at the operation site after inguinal hernioplasty at 3-year follow-up. Severe preoperative pain was correlated with the development of chronic pain. There was no difference between the two study groups in the recurrence rates.

Randomised clinical trial comparing lightweight mesh with heavyweight mesh for inguinal hernioplasty.

PURPOSE: The aim of the present randomised clinical study was to compare the incidence of post-operative chronic groin pain and the feeling of a foreign body after inguinal hernioplasty with lightweight (LW) and heavyweight (HW) mesh, as well as to evaluate the patient's quality of life after inguinal hernia repair. METHODS: A total of 135 patients were randomised into the HW mesh group (66 patients) and the LW mesh group (69 patients). A tension-free repair using the Lichtenstein technique was performed on all patients. Pain scores were measured on a visual analogue scale. To evaluate the patient's quality of life, the Medical Outcomes Study Short-Form (SF) 36 questionnaire was completed by the patient. RESULTS: There were significantly more patients with pain at rest in the HW mesh group than in the LW mesh group at 6 months follow-up (6.3 vs. 0%, P = 0.038). The feeling of a foreign body at the operation site was experienced by 32.8% of the patients in the HW group and by 20.9% of the patients in the LW group after 6 post-operative months (P = 0.123). There were no significant differences in any dimension of quality of life on the SF36 between the two study groups 6 months after surgery. CONCLUSIONS: Our study shows that, compared with HW mesh, LW mesh has some advantages in reducing chronic groin pain at the operation site after inguinal hernioplasty. According to our study, there was no difference in the feeling of a foreign body and in the quality of life between the two study groups.