Publications by authors named "J Allgrove"
Article Synopsis
- Pathogenic variants in the SLC34A1 and SLC34A3 genes, responsible for sodium-phosphate transport, lead to rare phosphate wasting conditions, primarily in children, with various clinical presentations and outcomes.
- A study analyzed data from 113 patients across 90 families, revealing distinct symptoms: SLC34A1 carriers mostly show issues in infancy, while SLC34A3 carriers experience symptoms into childhood and adulthood, including a significantly higher prevalence of chronic kidney disease in adulthood.
- Biochemical markers were similar for both groups, indicating some common underlying mechanisms, and phosphate treatment yielded partial improvements in certain enzyme levels but raised parathyroid hormone levels, suggesting a complex interaction between treatments and kidney function.
Article Synopsis
- Two patients of East African descent have been identified with a novel homozygous variant in the parathyroid hormone receptor type 1 (PTH1R), which is linked to Eiken syndrome features such as brachydactyly and skeletal abnormalities.
- Both patients showed parathyroid hormone resistance, resulting in low calcium and high phosphate levels, which initially pointed to pseudohypoparathyroidism, yet genetic testing confirmed a specific PTH1R mutation.
- Functional analysis revealed that both PTH1R variants caused increased basal cAMP signaling and reduced responsiveness to PTH and PTH-related peptide, indicating a disruption in PTH1R signaling pathways associated with their clinical symptoms.
Mosaic mutations in genes GNAQ or GNA11 lead to a spectrum of diseases including Sturge-Weber syndrome and phakomatosis pigmentovascularis with dermal melanocytosis. The pathognomonic finding of localized "tramlining" on plain skull radiography, representing medium-sized neurovascular calcification and associated with postnatal neurological deterioration, led us to study calcium metabolism in a cohort of 42 children. In this study, we find that 74% of patients had at least one abnormal measurement of calcium metabolism, the commonest being moderately low serum ionized calcium (41%) or high parathyroid hormone (17%).
View Article and Find Full Text PDFBackground: Burosumab, an antifibroblast growth factor 23 monoclonal antibody, improves rickets severity, symptoms and growth in children with X-linked hypophosphataemia (XLH) followed up to 64 weeks in clinical trials. International dosing guidance recommends targeting normal serum phosphate concentration; however, some children may not achieve this despite maximal dosing. This study compares clinical outcomes in children with XLH on long-term burosumab treatment who achieved normal phosphate versus those who did not.
View Article and Find Full Text PDFSingle bouts of land-based exercise suppress appetite and do not typically alter energy intake in the short-term, whereas it has been suggested that water-based exercise may evoke orexigenic effects. The primary aim was to systematically review the available literature investigating the influence of water-based exercise on energy intake in adults (PROSPERO ID number CRD42022314349). PubMed, Medline, Sport-Discus, Academic Search Complete, CINAHL and Public Health Database were searched for peer-reviewed articles published in English from 1900 to May 2022.
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