Publications by authors named "C B Langman"
Article Synopsis
- In patients with X-linked hypophosphatemia (XLH), traditional treatments can lead to nephrocalcinosis, but the connections between XLH, its treatment, and kidney function are still unclear.
- A study analyzed kidney health in 196 children and 318 adults with XLH, with findings showing a significant prevalence of nephrocalcinosis, especially in children, and its association with reduced kidney function.
- Results indicated that nephrocalcinosis was common in both age groups, with children showing more symptoms related to kidney function compared to adults, highlighting the need for deeper understanding and monitoring of kidney health in XLH patients.*
Cystinosis is a rare, inherited, lysosomal storage disorder characterized by the progressive accumulation of intralysosomal cystine and subsequent organ and tissue damage. The kidneys are the first and most severely impacted organ. Although cystinosis was once considered a fatal pediatric disease, patients with cystinosis are living well into adulthood with advances in medical care, including kidney transplant and early and continuous use of cysteamine therapy.
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- Whole genome sequencing (WGS) is being increasingly used to diagnose rare diseases, but traditional methods often have low diagnostic yields, typically 25-30%.
- In a study involving 122 rare disease patients and their relatives, a comprehensive bioinformatics approach led to a diagnostic yield of 35%, with 39% solved when including novel gene candidates.
- The study also identified several novel genes, expanded the phenotypic understanding of existing conditions, and resulted in critical changes to clinical diagnoses and treatments for some patients.
Axillary crutches are the most common assistive devices given to individuals with musculoskeletal injuries in an acute care setting. Nurses are frequently the care provider fitting injured individuals with crutches. This study compared the crutch length determined by the crutch manufacturer's height setting with the crutch length attained after applying a standard clinical protocol for crutch fitting.
View Article and Find Full Text PDFOur objective was to examine serum ferritin trends after conversion to permanent vascular access (PVA) among children who started hemodialysis (HD) using tunneled cuffed catheters (TCC). Retrospective chart reviews were completed on 98 subjects from 20 pediatric HD centers. Serum ferritin levels were collected at the creation of PVA and for two years thereafter.
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