Glomerular nephropathy resulting from the genetic defects in COL4A3/4/5 genes including the classical Alport syndrome (AS) is the second commonest hereditary kidney disease characterized by persistent haematuria progressing to the need of kidney replacement therapy, frequently associated with sensorineural deafness, and occasionally with ocular anomalies. Diagnosis and management of COL4A3/4/5 glomerulopathy is a great challenge due to its phenotypic heterogeneity, multiple modes of inheritance, variable expressivity, and disease penetrance of individual variants as well as imperfect prognostic and progression factors and scarce and limited clinical trials, especially in children. As a joint initiative of the European Rare Kidney disease reference Network (ERKNet), European Renal Association (ERA Genes&Kidney) and European Society for Paediatric Nephrology (ESPN) Working Group Hereditary Kidney Disorders, a team of experts including adult and paediatric nephrologists, kidney geneticists, audiologists, ophthalmologists and a kidney pathologist were selected to perform a systematic literature review on 21 clinically relevant PICO (Patient or Population covered, Intervention, Comparator, Outcome) questions.
View Article and Find Full Text PDFInt J Environ Res Public Health
October 2024
Background: Detraining refers to the decline in physical fitness that occurs after the cessation of exercise, compromising the adaptations resulting from regular exercise training. To understand how long the benefits acquired from an exercise program can be maintained, the present study evaluated the detraining effects of a 4-week exercise cessation period in older adults who performed combined training at various weekly frequencies for 12 weeks.
Methods: This randomized controlled trial assigned participants to one of two training programs: a combined training program twice a week (CT2) or four times a week (CT4) over a period of 12 weeks, followed by a four-week detraining period.
Importance: Colorectal cancer (CRC) screening is effective but remains underused in federally qualified health centers (FQHCs).
Objective: To assess the effectiveness of a centralized CRC screening outreach intervention involving mailed fecal immunochemical testing (FIT) outreach and patient navigation to colonoscopy after abnormal results of FIT.
Design, Setting, And Participants: A pragmatic randomized clinical trial was conducted, using intention-to-treat analysis.