Appendectomy or not in middle-aged male with non-inflamed appendix in Amyand’s hernia? Case report and literature review

Introduction: An Amyand's hernia is a rare disease where a vermiform appendix is found within an inguinal hernia sac. It is reported in the literature as having an incidence between 0.4%-1.0% of reported hernia cases. Typically, an incidental finding, Amyand's hernia is consequently found more frequently intra-operatively rather than preoperatively. Presentation of case: This case is a recount of a 56-year-old male, who presented in an outpatient setting for the evaluation of right inguinal pain and bulge. The patient was diagnosed with a vermiform appendix within the indirect hernia. The patient underwent elective repair of his inguinal hernia via Transabdominal Preperitoneal (TAPP) approach of the hernia with avoidance of appendectomy. Discussion: An Amyand's hernia presents a challenging diagnosis and the treatment algorithm is contingent on the condition of the appendix in individual cases. This case presents a Type 1 Amyand's hernia that was repaired through laparoscopic approach using prosthetic mesh. The aim of this case study highlights the approach to surgical decision making in the diagnosis and treatment of Amyand's hernia proposed in the current literature. Conclusion: This case presents a rare condition known as Amyand's hernia followed by a discussion on the epidemiology, diagnostic workup, and treatment options. Treatment is dependent on the state of the appendix found in the hernia sac and the clinical scenario. Comprehensive literature review shows that the true prevalence of this disease is lower than classically described and still has no clear standardized approaches

Calvarium Thinning in Patients with Spontaneous Cerebrospinal Fluid Leaks of the Anterior Skull Base

Objectives/Hypothesis Patients with spontaneous cerebrospinal fluid leaks (sCSF-L) of the temporal bone have isolated calvarial and skull base thinning that is independent of obesity. This study determines if anterior skull base (ASB) sCSF-L patients also have calvarial thinning. Study Design Retrospective Cohort Study. Methods This was a retrospective cohort study of ASB sCSF-L patients compared to nonobese (body mass index [BMI] < 30 kg/m2) and obese (BMI ≥ 30) control groups. Twenty-one patients in the ASB sCSF-L group and 25 patients in each control group were included. Calvarium and extracranial zygoma thicknesses were measured bilaterally with blinded, standardized, volumetric analysis. Results ASB sCSF-L patients had a mean (SD) age of 50.43 (10.19) years, an average (SD) BMI of 38.81 (8.92) kg/m2, and most were female (85.71%). The calvarium in patients with ASB sCSF-L was significantly thinner than the nonobese (2.55 mm [0.77] vs. 2.97 [0.67] mm; P = .006; 95% confidence intervals [CI], 0.12–0.30; Cohen d, 0.58) and obese control groups (2.55 [0.77] vs. 2.92 [0.76] mm; P = .02; 95% CI, 0.05–0.34; Cohen d, 0.66). The calvarium thickness of the nonobese patients was not significantly different from the obese patient controls (2.97 [0.67] vs. 2.92 [0.76] mm, P = .9). The extracranial zygoma was not significantly different among the groups (analysis of variance, P = .33). Conclusions ASB sCSF-L patients have isolated calvarial thinning that is independent of obesity. Like lateral skull base sCSF-L patients, these data suggest that the additional obesity-associated intracranial process contributes to skull thinning

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Mitochondrial Ca 2+ uptake has key roles in cell life and death. Physiological Ca 2+ signaling regulates aerobic metabolism, whereas pathological Ca 2+ overload triggers cell death. Mitochondrial Ca 2+ uptake is mediated by the Ca 2+ uniporter complex in the inner mitochondrial membrane, which comprises MCU, a Ca 2+ -selective ion channel, and its regulator, MICU1. Here we report mutations of MICU1 in individuals with a disease phenotype characterized by proximal myopathy, learning difficulties and a progressive extrapyramidal movement disorder. In fibroblasts from subjects with MICU1 mutations, agonist-induced mitochondrial Ca 2+ uptake at low cytosolic Ca 2+ concentrations was increased, and cytosolic Ca 2+ signals were reduced. Although resting mitochondrial membrane potential was unchanged in MICU1-deficient cells, the mitochondrial network was severely fragmented. Whereas the pathophysiology of muscular dystrophy and the core myopathies involves abnormal mitochondrial Ca 2+ handling, the phenotype associated with MICU1 deficiency is caused by a primary defect in mitochondrial Ca 2+ signaling, demonstrating the crucial role of mitochondrial Ca 2+ uptake in humans. © 2014 Nature America, Inc

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