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1.
Am J Med Genet A ; 182(5): 1066-1072, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32100472

RESUMO

Familial cerebral cavernous malformations due to the common Hispanic mutation (FCCM1-CHM) is an endemic condition among the Hispanic population of the Southwestern United States associated with significant morbidity and mortality. Cutaneous vascular malformations (CVMs) can be found in individuals with FCCM1-CHM, but their morphology, prevalence, and association with cerebral cavernous malformations (CCMs) has not been well characterized. A cross-sectional study of 140 individuals with confirmed FCCM1-CHM was performed with statistical analyses of CVM, CCM, and patient characteristics. We then compared these findings to other cohorts with Familial cerebral cavernous malformations (FCCM) due to other mutations. We observed a higher overall prevalence and a different predominant morphological subtype of CVM compared to previous FCCM cohorts. While the number of CVMs was not a reliable indicator of the number of CCMs present, each person with one or more CVMs had evidence of central nervous system (CNS) disease. Awareness of the morphology of these cutaneous lesions can aid in the diagnosis of individuals with FCCM-CHM in Hispanic patients or those with family history of CCM.


Assuntos
Hemangioma Cavernoso do Sistema Nervoso Central/genética , Proteína KRIT1/genética , Dermatopatias Vasculares/genética , Adolescente , Adulto , Idoso , Criança , Feminino , Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem , Hemangioma Cavernoso do Sistema Nervoso Central/patologia , Hispânico ou Latino/genética , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Mutação/genética , Linhagem , Dermatopatias Vasculares/tratamento farmacológico , Dermatopatias Vasculares/patologia , Adulto Jovem
2.
Future Sci OA ; 7(2): FSO667, 2020 Dec 09.
Artigo em Inglês | MEDLINE | ID: mdl-33432272

RESUMO

This special report was developed to communicate policy and procedures for free-standing acute inpatient rehabilitation hospitals (AIRHs) to protect patients and healthcare personnel and to prevent further spread of severe acute respiratory syndrome coronavirus 2. The recommended policies were developed in conjunction with the New Mexico Department of Health and hospital leadership. As we attain additional knowledge and experience during this pandemic, suggestions of best practice will continue to evolve for AIRHs. The authors encourage readers to work with local regulatory officials to ensure regulatory compliance as well as respect of the availability of local resources.

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