Irish journal of medical science
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The prevalence of obstructive sleep apnea (OSA) in older people (aged over 65 years) is high. However, OSA in older populations has not received sufficient attention. This study examined the clinical phenotypic characteristics of older patients with newly diagnosed OSA. ⋯ The presence of OSA in older adults was associated with significant abnormalities of sleep architecture, aggravated nocturnal hypoxia and increased risks of hypertension, CAD, and stroke, which can be distinguished as a unique clinical phenotype.
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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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To evaluate urodynamic examination results and treatment methods of neurogenic lower urinary tract dysfunction (NLUTD) in patients with traumatic thoracic spinal cord injury (SCI). ⋯ Our results demonstrate that there are differences in neurogenic lower urinary tract dysfunction features in subgroups of traumatic thoracic SCI patients. Regular urinary system evaluation and necessary changes in treatment should be carried out in this patient group.
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Limited evidence has examined the association between balance and mobility measures with risk of fall. ⋯ Adults living in Saudi Arabia had a low prevalence of falls. The 5XSST was the only significant balance/mobility measure that distinguished fallers from non-fallers.
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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.