RESUMO
We report a case of nonfatal junctional epidermolysis bullosa and pyloric atresia in a newborn. We identified a substitution (c.914C>T) for the integrin ß4 gene that has been associated with favorable outcome. A novel mutation (c.2011T>G) of unknown significance was also found in this patient who is now thriving.
Assuntos
Epidermólise Bolhosa Juncional/genética , Obstrução da Saída Gástrica/genética , Integrina beta4/genética , Piloro/anormalidades , Epidermólise Bolhosa Juncional/complicações , Epidermólise Bolhosa Juncional/diagnóstico , Feminino , Obstrução da Saída Gástrica/complicações , Obstrução da Saída Gástrica/cirurgia , Heterozigoto , Humanos , Recém-Nascido , Laparotomia/métodos , Mutação , Piloro/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Pele/patologiaRESUMO
OBJECTIVE: To determine physician-reported adherence to and support of the 2010 Massachusetts youth concussion law, as well as barriers to care and clinical practice in the context of legislation. STUDY DESIGN: Primary care physicians (n = 272) in a large pediatric network were eligible for a cross-sectional survey in 2014. Survey questions addressed key policy and practice provisions: concussion knowledge, state regulations and training, practice patterns, referrals, patient characteristics, and barriers to care. Analyses explored relationships between practice and policy, adjusting for physician demographic and practice characteristics. RESULTS: The survey response rate was 64% among all responders (173 of 272). A total of 146 respondents who had evaluated, treated, or referred patients with a suspected sports-related concussion in the previous year were eligible for analysis. The vast majority (90%) of providers agreed that the current Massachusetts laws regarding sports concussions are necessary and support the major provisions. Three-quarters (74%) had taken a required clinician training course on concussions. Those who took training courses were significantly more likely to develop individualized treatment plans (OR, 3.6; 95% CI, 1.1-11.0). Physician training did not improve screening of youth with concussion for depression or substance use. Most physicians (77%) advised patients to refrain from computer, telephone, or television for various time periods. Physicians reported limited communication with schools. CONCLUSIONS: Primary care physicians report being comfortable with the diagnosis and management of concussions, and support statewide regulations; however, adherence to mandated training and specific legal requirements varied. Broader and more frequent training may be necessary to align current best evidence with clinical care and state-mandated practice.