Irish journal of medical science
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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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Frailty is a clinical syndrome characterized by a decrease in strength, resistance and body physiological condition, making the individual more vulnerable, and increasing his/her risk of dependence and death. Kidney transplant (KT) is currently the best end-stage renal disease therapeutic alternative for certain individuals. Frailty status occurs in approximately 20% of KT patients. Thus, it was evaluated if there would be any change in frailty status level in a population of adult patients on chronic HD after receiving KT. ⋯ A significant improvement was found between pre- and post-transplant clinical frailty scores in hemodialysis adult patients.
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Optimal trunk control relies on adequate musculoskeletal, motor, and somatosensory systems that are often affected in people with Alzheimer's disease (AD). Therefore, the aim of this study was to compare trunk control between people with AD and healthy older adults, and investigate the relationship between trunk control and balance, gait, functional mobility, and fear of falling in people with AD. ⋯ Trunk control is affected and related with balance, gait, functional mobility, and fear of falling in people with AD. For this reason, we think that trunk control should be evaluated in the early period, and applications for trunk control should be included in rehabilitation approaches in order to improve balance, gait, functional mobility, and reduce fear of falling.
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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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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.