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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 PDFEfficacy and safety of Jianpi Qinghua granules for non-erosive reflux disease with spleen deficiency and damp-heat syndrome: a multicenter, randomized, double-blind, placebo-controlled clinical trial.
Front Nutr
January 2025
Peking University Traditional Chinese Medicine Clinical Medical School (Xiyuan), Peking University Health Science Center, Beijing, China.
Background: Non-erosive reflux disease (NERD), the most frequent phenotype of gastroesophageal reflux disease, presents without visible esophageal mucosal damage but significantly impacts patients' quality of life. Current treatments like proton pump inhibitors show limited efficacy for many NERD patients, necessitating alternative approaches. Jianpi Qinghua (JQ) granules, a traditional Chinese medicine, have shown promise in treating NERD by targeting symptoms of spleen deficiency and damp-heat syndrome.
View Article and Find Full Text PDFOutcomes of Coronary Artery Bypass Grafting (CABG) Patients With and Without a History of Liver Transplant.
Cureus
December 2024
Gastroenterology, Northwell Health, Bay Shore, USA.
Background: Liver transplant (LT) patients face various challenges, including an increased risk of coronary artery disease (CAD) for a variety of reasons, with 70% of LT recipients having one cardiovascular event. Coronary artery bypass grafting (CABG) remains one of the most commonly performed major surgical procedures in the United States, with 20-30% of LT patients requiring a CABG. Many studies have analyzed when to perform a CABG and CAD workup pre-LT, but this population remains a problem.
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.
Genetic Links Between Gastrointestinal Disorders and Kidney Stone Disease: Insights from Genome-Wide Cross-Trait Analysis.
Kidney360
January 2025
Department of Urology, Beijing Chao-Yang Hospital, Capital Medical University, Beijing, China.
Background: Epidemiological associations between kidney stone disease (KSD) and gastrointestinal disorders have been reported, and intestinal homeostasis plays a critical role in stone formation. However, the underlying intrinsic link is not adequately understood. This study aims to investigate the genetic associations between these two types of diseases.
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