Missouri Medicine

Prader-Willi syndrome (PWS) is a complex genetic neurodevelopmental disorder with multisystem impact and a unique behavior profile that evolves over the life span. Beyond the primary care needs of all children and adults, the unique medical concerns and management needs of those with PWS are best served in a multidisciplinary academic center. Our PWS center has provided care for individuals with PWS and their families since 1981. Our growth hormone studies contributed to growth hormone supplementation becoming standard of care in this country...

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The incidence of diabetes and hyperlipidemia are increasing at rapid rates in children. These conditions are associated with increased risk of macrovascular and microvascular complications causing major morbidity and mortality later in life. Early diagnosis and treatment can reduce the lifelong risk of complications from these diseases, exemplifying the importance of screening in the pediatric population. The following article presents a summary of the current guidelines for diabetes and hyperlipidemia screening in pediatric patients...

Neonatal abstinence syndrome (NAS)/Neonatal opioid withdrawal syndrome (NOWS) and substance abuse disorder (SUD) rates are undeniably linked with the outcomes of mothers and babies. This essential relationship emphasizes the importance of quality improvement work done jointly, treating mother and infant as a dyad, not as separate entities. In 2020 the Missouri Hospital Association (MHA) partnered with Show-Me ECHO, a state-funded telehealth project, to initiate a state-wide quality improvement (QI) project to improve and standardize care delivery to the mother-baby dyad affected by SUD...

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Medical therapies for hemophilia patients over the past 60 years have included several blessings and a curse. The long-sought cure with gene therapy may have finally arrived. Unfortunately, preclinical animal models are now raising concerns for genotoxicity with gene therapy. Although no cancers have been detected in humans, it may be a few decades before we know if gene therapy for hemophilia is another blessing, or another curse.

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