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The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.
J Nephrol
January 2025
Department of Nephrology, Beaumont Hospital, Dublin, Ireland.
Background: Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by pathogenic variants in the PKD1 and PKD2 genes. Although the type of ADPKD variant can influence disease severity, rare, hypomorphic PKD1 variants have also been reported to modify disease severity or cause biallelic ADPKD. This study examines whether rare, additional, potentially protein-altering, non-pathogenic PKD1 variants contribute to ADPKD phenotypic outcomes.
View Article and Find Full Text PDFReport of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome).
Turk J Ophthalmol
January 2025
İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Ophthalmology, İstanbul, Türkiye.
Jeune syndrome (JS), first described by Jeune as asphyxiating thoracic dystrophy, is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities and variable renal, hepatic, pancreatic, and ocular complications. Approximately 1 in every 100,000 to 130,000 babies is born with JS. Most patients with JS have respiratory distress due to inadequate lung development and many lose their lives due to respiratory failure.
View Article and Find Full Text PDFPrognostic scores for predicting overall survival in patients with metastatic renal and urothelial cancer undergoing immunotherapy - which one to use?
World J Urol
January 2025
Department of Urology, University of Kiel (UKSH), Arnold-Heller-Strasse 1-3, 24105, Kiel, Germany.
Purpose: Evaluation of the prognostic significance of four different scoring systems in a real-world cohort of patients with metastatic urothelial carcinoma (mUC) or renal cell carcinoma (mRCC) undergoing immunotherapy (IO).
Methods: For 120 patients with mUC (n = 67) and mRCC (n = 53) who received IO between July 2016 and December 2020 at the tertiary Urological University Medical Centre Mannheim, the following scores were recorded at pre-treatment baseline: modified Glasgow prognostic score (mGPS), systemic immune-inflammation index (SII), neutrophil-to-lymphocyte ratio (NLR), neutrophil-to-eosinophil ratio (NER). Overall survival (time between the beginning of IO until the patients' death or last contact) was determined for every patient.
Posterior urethral valves: Examining the relationship of socioeconomic factors in disease presentation and progression.
J Pediatr Urol
January 2025
Division of Pediatric Urology, Department of Urology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Introduction: A significant portion of posterior urethral valve patients continue to progress to end stage renal disease despite improvements in medical care. Socioeconomic status has been connected to various healthcare outcomes but has not been evaluated in relation to longitudinal outcomes of posterior urethral valves.
Objective: To evaluate the effect of socioeconomic status on the progression to renal failure among patients with posterior urethral valves.
Identification and Management of Medical Comorbidities in Patients With HR+/HER2- Metastatic Breast Cancer Treated With CDK4/6 Inhibitors: Literature Review and Recommendations From Experts in Spain Opinion.
Clin Breast Cancer
December 2024
Navarra University Hospital, Pamplona, Navarra, Spain. Electronic address:
Approximately one-third of patients with breast cancer have comorbidities at the time of their diagnosis. Recommendations for managing metastatic breast cancer are usually based on the results of clinical trials, which often limit patients with comorbidities. However, comorbidities greatly influence the quality of life, patient survival rate and treatment choice, particularly in older patients.
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