The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited conditions known as lysosomal storage disorders (LSDs) The resulting enzyme deficiencies give rise to progressive symptoms. The United States Department of Health and Human Services' Recommended Uniform Screening Panel (RUSP) suggests LSDs for inclusion in state universal newborn screening (NBS) programs and has identified screening deficiencies in MPS I, KD, and PD NBS programs. MPS I NBS programs utilize newborn dried blood spots and assay alpha L-iduronidase (IDUA) enzyme to screen for potential cases.
View Article and Find Full Text PDFThe correction of the deformed arthritic foot and ankle is a complicated and somewhat controversial topic. After conservative methods fail, there is a wide range of possible bony procedures and arthrodesis that maybe performed. The appropriate work up and understanding of the pathomechanics is vital to the correct choice of procedures to correct these deformities.
View Article and Find Full Text PDFThere has been significant enhancement in surgical management of hallux valgus deformity. Recognition of the role of medial column hypermobility has resulted in better functional outcomes with decreased risk of recurrence. Modern techniques have evolved to include enhanced fixation in a move toward minimal postoperative downtime.
View Article and Find Full Text PDFFusion of the first metatarsophalangeal joint has been used by foot and ankle surgeons as a reproducible and useful means of treating end-stage arthritis of the great toe. However, the overall utility and successful outcomes of this procedure have led to its incorporation into the treatment of more significant bunion deformities, reconstruction forefoot, and salvage procedures. The authors review surgical fixation methods, offer insightful technical pearls for challenging cases and share examples of complex reconstructive and salvage procedures.
View Article and Find Full Text PDFVenous thromboembolic complications have emerged as serious sequelae in COVID-19 infections. This article summarizes the most current information regarding pathophysiology, risk factors and hematologic markers, incidence and timing of events, atypical venous thromboembolic complications, prophylaxis recommendations, and therapeutic recommendations. Data will likely to continue to rapidly evolve as more knowledge is gained regarding venous events in COVID-19 patients.
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