Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience

Article Urology & Nephrology

Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain

Chen-Han Wilfred Wu et al.

Summary: The genetic prevalence of cystine stone disease was estimated to be 1 in 30,585, significantly lower than the clinical prevalence of 1 in 7,000, suggesting a more complex etiology that current genetic knowledge cannot fully explain.

UROLITHIASIS (2023)

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Article Urology & Nephrology

Korean Society of Endourology and Robotics (KSER) recommendation on the diagnosis, treatment, and prevention of urolithiasis

Do Hae Jung et al.

Summary: This article provides evidence-based recommendations and expert opinions to help urologists make optimal decisions in managing urolithiasis. Frequently asked questions by urologists in clinical practice are addressed based on the latest evidence and expert opinions. The authors offer practical guidance for the diagnosis, treatment, and prevention of urolithiasis in various clinical scenarios. It serves as a valuable resource for urologists.

INVESTIGATIVE AND CLINICAL UROLOGY (2023)

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Article Urology & Nephrology

Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability

Beomki Lee et al.

Summary: Cystinuria is a genetic disorder caused by defects in the b(0,+) transporter system. Variants in SLC3A1 and SLC7A9 follow different inheritance patterns and complicate variant interpretation. This study identified novel variants and used in silico analysis to predict functional loss and protein expression changes.

UROLITHIASIS (2023)

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Review Pediatrics

Cystinuria: an update on pathophysiology, genetics, and clinical management

Viola D'Ambrosio et al.

Summary: Cystinuria is a common genetic cause of nephrolithiasis in children, characterized by increased excretion of cystine leading to stone formation. Diagnosis usually occurs in childhood, with treatment involving dietary modifications and pharmacological interventions, sometimes requiring surgical procedures.

PEDIATRIC NEPHROLOGY (2022)

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Article Biochemistry & Molecular Biology

Relationship between Urinary Calcium Excretion and Lower Urinary Tract Symptoms

Tomohiro Matsuo et al.

Summary: Few studies have been conducted on markers for the prevalence of lower urinary tract symptoms (LUTS). This study revealed that hypercalciuria is significantly associated with OAB, nocturia, and nocturnal polyuria.

METABOLITES (2022)

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Review Surgery

Cystinuria: An Overview of Challenges and Surgical Management

Calum Stephen Clark et al.

FRONTIERS IN SURGERY (2022)

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Article Urology & Nephrology

Genetic and clinical analysis of Chinese pediatric patients with cystinuria

Ruichao Zhan et al.

Summary: This study investigated the genotypic and phenotypic characteristics of Chinese pediatric patients with cystinuria. The results showed that patients with SLC7A9 gene mutations were more likely to develop bilateral stones than those with SLC3A1 mutations. A wide mutation spectrum and potential mutation hotspots associated with cystinuria were also identified.

UROLITHIASIS (2022)

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Article Medicine, General & Internal

In Vivo Feasibility Test of a New Flexible Ureteroscopic Robotic System, easyUretero, for Renal Stone Retrieval in a Porcine Model

Joonhwan Kim et al.

Summary: This study evaluated the feasibility and safety of renal stone retrieval using the easyUretero system in a porcine model. The results showed that the easyUretero system had lower radiation exposure dose, higher satisfaction in surgeon's fatigue category, and shorter stone retrieval time compared to manual RIRS.

YONSEI MEDICAL JOURNAL (2022)

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Article Urology & Nephrology

A mouse model of type B cystinuria due to spontaneous mutation in FVB/NJcl mice

Hayato Sasaki et al.

Summary: Cystinuria is a metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes, resulting in excessive excretion of cystine and dibasic amino acids in the urine and increasing the risk of stone formation. This study presents a new mouse model of cystinuria, providing insights into the mechanisms of stone formation.

UROLITHIASIS (2022)

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Article Medicine, General & Internal

The First 100 Cases of Endoscopic Combined Intrarenal Surgery in Korea: Matched Cohort Analyses versus Shock-Wave Lithotripsy

Hae Do Jung et al.

Summary: This study presents the initial experience with endoscopic combined intrarenal surgery (ECIRS) for large renal stones and compares it with shock-wave lithotripsy (SWL). The results show that ECIRS has a higher stone-free rate (SFR) and success rate compared to SWL for large renal stones. Smaller stone size and lower complexity of stones are associated with a higher likelihood of successful ECIRS.

YONSEI MEDICAL JOURNAL (2022)

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Article Crystallography

Correlation between Ion Composition of Oligomineral Water and Calcium Oxalate Crystal Formation

Manuela Rossi et al.

Summary: The study found that the ion combination in drinking water has a significant impact on the precipitation of calcium oxalate in vitro, rather than a single ionic species. The ability of ions to strengthen/weaken the aqueous medium structure affects the interfacial energy, modulating the formation and growth of CaOx crystals.

CRYSTALS (2021)

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Article Urology & Nephrology

Large database study of urinary stone composition in South Korea: Korean Society of Endourology and Robotics (KSER) research series

Hae Do Jung et al.

Summary: There are differences in the percentages of each stone composition according to sex, age, geographic region, month, and season. Identifying these differences is crucial for the treatment and prevention of urinary stones.

INVESTIGATIVE AND CLINICAL UROLOGY (2021)

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Article Pediatrics