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3.
Dermatol Online J ; 27(3)2021 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-33865274

RESUMEN

In the United States access to healthcare continues to be a major issue. Although "top down" public policy approaches hold promise for expanding access, a lack of political consensus has hindered progress. A review of the literature was conducted to investigate the efficacy of clinical interventions aimed at expanding access to care from the "bottom up." The greatest improvements in access to care over the past decade have harnessed teledermatology, shared care, appointment scheduling strategies, and team-based care. Optimization of these approaches will require additional population-based, dermatology-specific research. It is clear that dermatologists, using a "bottom up approach," can significantly expand access to care in their communities in a manner that is economically viable and maintains quality of care and patient satisfaction.


Asunto(s)
Dermatología/organización & administración , Accesibilidad a los Servicios de Salud , Telemedicina , Citas y Horarios , Dermatología/normas , Política de Salud , Humanos , Área sin Atención Médica , Grupo de Atención al Paciente , Satisfacción del Paciente , Calidad de la Atención de Salud , Citas Médicas Compartidas , Estados Unidos
4.
Am J Med Genet A ; 155A(7): 1640-5, 2011 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-21626678

RESUMEN

Haploinsufficiency of RASA1, located on chromosome 5q14.3, has been identified as the etiology underlying the disorder capillary malformation-arteriovenous malformation (CM-AVM). Recently, haploinsufficiency of MEF2C, located 1.33 Mb distal to RASA1 on chromosome 5q14.3, has been implicated as the genetic etiology underlying a complex array of deficits including mental retardation, hypotonia, absent speech, seizures, and brain anomalies. Here we report a patient who is haploinsufficient in both RASA1 and MEF2C who presents with dermatologic and neurologic abnormalities that constitute a 5q14.3 neurocutaneous syndrome. This finding highlights the need to assess for CM-AVM in patients with neurologic features consistent with MEF2C haploinsufficiency, and vice versa.


Asunto(s)
Cromosomas Humanos Par 5/genética , Eliminación de Gen , Proteínas de Dominio MADS/genética , Factores Reguladores Miogénicos/genética , Síndromes Neurocutáneos/genética , Proteína Activadora de GTPasa p120/genética , Adolescente , Encéfalo/patología , Niño , Preescolar , Bandeo Cromosómico , Hibridación Genómica Comparativa , Orden Génico , Haploinsuficiencia , Humanos , Lactante , Recién Nacido , Factores de Transcripción MEF2 , Imagen por Resonancia Magnética , Masculino , Síndromes Neurocutáneos/diagnóstico , Fenotipo , Piel/patología
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