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Hali Weiss, MD

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Especialidades

Neonatology

Trabajo y Educación

Formación Profesional

Mount Sinai Medical Center, New York, NY, 1990

Internado

Mount Sinai Medical Center, New York, NY, 1991

Residencia

Mount Sinai Medical Center, New York, NY, 1993

Compañerismo

UCSF Medical Center, San Francisco, CA, 1996

Certificaciones Médicas

Pediatrics, American Board of Pediatrics

Todo Publicaciones

Consensus Statement on Standard of Care for Congenital Myopathies JOURNAL OF CHILD NEUROLOGY Wang, C. H., Dowling, J. J., North, K., Schroth, M. K., Sejersen, T., Shapiro, F., Bellini, J., Weiss, H., Guillet, M., Amburgey, K., Apkon, S., Bertini, E., Bonnemann, C., Clarke, N., Connolly, A. M., Estournet-Mathiaud, B., Fitzgerald, D., Florence, J. M., Gee, R., Gurgel-Giannetti, J., Glanzman, A. M., Hofmeister, B., Jungbluth, H., Koumbourlis, A. C., Laing, N. G., Main, M., Morrison, L. A., Munns, C., Rose, K., Schuler, P. M., Sewry, C., Storhaug, K., Vainzof, M., Yuan, N. 2012; 27 (3): 363-382

Abstract

Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies. The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail correspondences, periodic conference calls, 2 rounds of online surveys, and a 3-day workshop to achieve a consensus for diagnostic and clinical care recommendations. The committee includes 59 members from 10 medical disciplines. They are organized into 5 working groups: genetics/diagnosis, neurology, pulmonology, gastroenterology/nutrition/speech/oral care, and orthopedics/rehabilitation. In each care area the authors summarize the committee's recommendations for symptom assessments and therapeutic interventions. It is the committee's goal that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome.

View details for DOI 10.1177/0883073812436605

View details for Web of Science ID 000301794400011

View details for PubMedID 22431881