Publications by authors named "A RAIMANN"
: X-linked hypophosphatemia (XLH, OMIM 307800) is a rare genetic disorder that affects phosphate metabolism. While lower limb deformity represents a hallmark symptom of patients with XLH, the effect on the foot has not been investigated. This study aimed to characterise foot pathologies and assess related outcome scores in adolescents and adults with XLH.
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- X-linked hypophosphatemia (XLH) is a rare genetic disorder leading to skeletal issues, particularly affecting a patient's gait due to lower limb deformities, but standardized data on these deformities are lacking.
- A study assessed lower limb maltorsion in children and adolescents with XLH, using advanced imaging techniques like MRI and CT to measure femoral and tibial torsion, acetabular anteversion, and hip coverage.
- Results indicated that many patients exhibited abnormal femoral and tibial torsion; notably, 47% had decreased femoral torsion, and 64% presented reduced external tibial torsion, raising concerns about the impact of these deformities on walking
Article Synopsis
- Osteogenesis imperfecta (OI) is a genetic disorder linked to type I collagen mutations, leading to bone fragility and deformities, with limited research on upper extremity issues in OI patients.
- A study assessed 14 patients aged 8 to 73, analyzing upper limb deformities through radiographic methods, clinical evaluations, and three-dimensional motion analysis, categorizing deformities as mild, moderate, or severe.
- Findings revealed that severe deformities, especially radial head dislocation, negatively impacted range of motion (ROM) and functional outcomes measured by the qDASH scores, indicating a spectrum of daily life activity limitations varying by deformity severity.
Introduction: Growth acceleration during postnatal growth only occurs during puberty as a physiological event and during catch-up growth mediated by growth-promoting therapies in growth disorders. Here we report on novel observations of skeletal symptoms during treatment with erdafitinib, a tyrosine kinase inhibitor (TKI) prescribed on the basis of a compassionate-use program.
Methods: Analysis of anthropometric, biochemical, clinical, and radiographic data of patients with CNS tumors who revealed an unanticipated growth spurt with initiation of therapy with erdafitinib was performed retrospectively.
Article Synopsis
- The study compared the effects of growth hormone therapy on children with growth hormone deficiency (GHD) and those born small for their gestational age (SGA), revealing significant differences in growth outcomes.
- After one year of therapy, children with GHD showed a greater increase in height compared to those with SGA, and this trend continued at their final height.
- The research indicated that short-term height increases were predictive of long-term growth outcomes in GHD patients, but not in SGA patients, suggesting differing responses to growth hormone therapy between these groups.