Irish journal of medical science
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Case Reports
A novel deletion mutation in the ATP6V0A2 gene in an Iranian patient affected by autosomal recessive cutis laxa.
Cutis laxa (CL) can be caused by mutations in a number of genes. Cutis laxa with autosomal recessive inheritance due to mutations in several genes, including mutations in the ATP6V0A2 gene, causes autosomal recessive cutis laxa type 2A (ARCL2A). The ATP6V0A2 gene encodes the a2 subunit in the V-ATPases pump. ⋯ A potentially pathogenic homozygous deletion mutation was detected in the ATP6V0A2 gene related to ARCL2A. This mutation has not been reported in the other patients with ARCL2A. A novel homozygous deletion mutation in ATP6V0A2 is supposed to be the reason for disease in our proband.
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Irritable bowel syndrome (IBS) is the most common functional gastrointestinal disorder that affects patients both physically and mentally. Our study aimed to investigate the burden of psychiatric disorders in IBS patients. ⋯ The presence of IBS is associated with an increased associated prevalence of psychiatric disorders such as anxiety, depression, and suicide attempt/ideation.
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Fragility fractures are described as fractures resulting from low-energy trauma and are considered diagnostic of reduced bone mineral density or osteoporosis. They often present as hip fractures with hip fractures remaining a common but devastating injury among older patients. Many factors influence a patient's risk of hip fracture and their subsequent risk of death. ⋯ We found that previous fragility fracture does not impact upon mortality in a hip fracture cohort. However, gender and age did impact upon mortality in this study.
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Clinical genetics is an under-resourced service in the Republic of Ireland. There can be a number of avenues that lead to barriers in patient triage noted within the department. ⋯ The majority of referrals are rejected for non-enclosure of patient genetic reports. Many referrals would have accepted to the waiting list if the appropriate report had been attached. This means patients at risk of genetic disorders are not accessing clinical services because the referrer is not providing the necessary information to allow triage. Active management of the waiting list via upfront letters is costly, with a 57% response rate. Should similar rejection rates exist in other specialities, we estimate this would equate to a cost of €2,714,214.40/year to the HSE.
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Renal scarring is prominently observed in children with vesicoureteral reflux (VUR) and can lead to complicated renal outcomes. Although biopsy is the gold standard to detect renal scarring, it is an invasive procedure. There are established renal biomarkers which can help detect renal scarring. Individual biomarkers have not shown to have extensively good discriminatory ability for this. ⋯ Combining the values of renal biomarkers through a statistical or machine learning model to detect renal scarring is a better approach as compared to considering individual renal biomarkers.