Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations.

Infantile-onset Pompe disease (IOPD) is a rare, severe disorder of lysosomal storage of glycogen that leads to progressive cardiac and skeletal myopathy. IOPD is a fatal disease in childhood unless treated with enzyme replacement therapy (ERT) from an early age. Sickle cell anemia (SCA) is a relatively common hemoglobinopathy caused by a specific variant in the hemoglobin beta-chain. Here we report a case of a male newborn of African ancestry diagnosed and treated for IOPD and SCA. Molecular testing confirmed two GAA variants, NM_000152.5: c.842G>C, p.(Arg281Pro) and NM_000152.5: c.2560C>T, p.(Arg854*) in trans, and homozygosity for the HBB variant causative of SCA, consistent with his diagnosis. An acute neonatal presentation of hypotonia and cardiomyopathy required ERT with alglucosidase alfa infusions preceded by immune tolerance induction (ITI), as well as chronic red blood cell transfusions and penicillin V potassium prophylaxis for treatment of IOPD and SCA. Clinical course was further complicated by multiple respiratory infections. We review the current guidelines and interventions taken to optimize his care and the pitfalls of those guidelines when treating patients with concomitant conditions. To the best of our knowledge, no other case reports of the concomitance of these two disorders was found. This report emphasizes the importance of newborn screening, early intervention, and treatment considerations for this complex patient presentation of IOPD and SCA.

College Warrior Athlete Initiative and academic nursing.

OBJECTIVE: The College Warrior Athlete Initiative (CWAI) determined if a key element of military occupational culture, referred to as the "battle-buddy" concept of pairing college athletes with veterans, could be applied to Student Service Members/Veterans (SSM/V) health promotion. Participants: Fifty veterans of fifty-seven enrolled completed the program in seven separate cohorts between 2016 and 2017. Methods: The veteran-student athlete pairs or small groups exercised twice a week for 75 min under the supervision of a certified athletic trainer and attended wellness classes. Results: Of the data from 50 veterans, over 2/3rd of veterans lost weight during their 12-week program and reported increased overall health, mood, energy levels and social engagement. Conclusions: This exercise intervention program implemented at two university campuses indicates the benefits of engaging SSM/Vs and college students for physical exercise to improve health. Results provide a foundation for academic nursing in conjunction with other university departments to increase peer cohesion and a sense of community for SSM/Vs.