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'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing.
BMJ Case Rep
January 2025
Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Paired box 2 ()-related disorder, also known as renal coloboma syndrome, is a variably penetrant autosomal dominant condition, associated with renal and ophthalmological abnormalities. We report a child with -related disorder who presented atypically with acute ataxia on a background of stage 3 chronic kidney disease. Extensive biochemical, radiological and gene agnostic rapid trio exome sequencing was non-diagnostic.
View Article and Find Full Text PDFRobot-assisted ureteral reconstruction for managing kidney transplant patients with ureteric complications.
Investig Clin Urol
January 2025
Department of Urology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Purpose: To evaluate the feasibility of robot-assisted ureteral reconstruction as a minimally invasive alternative to open surgery for managing ureteric complications in transplanted kidneys.
Materials And Methods: From January 2020 to December 2023, robot-assisted ureteral reconstruction was performed on fifteen kidney transplant patients with vesicoureteral reflux (VUR) or ureteral stricture who had previously failed endoscopic treatments.
Results: Twelve females and three males, with a mean age of 48.
Vesicoureteral Reflux in Transplanted Kidney Among Children With Congenital Anomalies of Kidney and Urinary Tract: Case-Control Study Assessing Impact on Renal Function and Graft Survival.
Pediatr Transplant
February 2025
Department of Pediatric Kidney Transplantation, Hospital Samaritano de São Paulo, São Paulo, Brazil.
Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are a common cause of kidney failure in childhood. Renal transplantation is the modality of treatment used for kidney failure that promotes improved quality of life for pediatric patients. It is believed that patients with CAKUT are more predisposed to developing graft reflux in the post-transplant period, but its influence on graft survival is poorly understood.
View Article and Find Full Text PDF[Urinary tract infection due to Streptococcus pneumoniae and its relationship with nephrourological malformations].
Andes Pediatr
August 2024
Unidad de Nefrología, Hospital General de Niños Pedro de Elizalde, Ciudad Autónoma de Buenos Aires, Argentina.
Article Synopsis
- Urinary tract infections (UTIs) in children are primarily caused by enterobacteria, but Streptococcus pneumoniae is a rare cause that can indicate underlying issues.
- A case study focused on a 2-year-old girl with recurrent UTIs, renal malformations, and a detected UTI caused by Streptococcus pneumoniae demonstrated the importance of thorough imaging studies for such cases.
- The findings highlight that UTIs from this atypical bacterium often correlate with serious renal-urological conditions, emphasizing the necessity for additional urinary tract evaluations in affected patients.
Urinary tract infections among under-five children with congenital anomalies of kidney and urinary tract in hospitalized patients in Addis Ababa.
BMC Pediatr
December 2024
School of Nursing and Midwifery, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
Background: Congenital anomalies of the kidney and urinary tract (CAKUT) and urinary tract infections (UTIs) are significant clinical concerns in children. Children who have UTIs are also at risk of developing long-term complications, notably kidney disease and scarring UTIs. The purpose of this study was to assess the prevalence of urinary tract infection and its determinants among under-five children with congenital anomalies of kidney and urinary tract in Addis Ababa.
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