Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 4 de 4
Filtrar
1.
Genet Med ; 21(3): 631-640, 2019 03.
Artículo en Inglés | MEDLINE | ID: mdl-30093709

RESUMEN

PURPOSE: We conducted a consented pilot newborn screening (NBS) for Pompe, Gaucher, Niemann-Pick A/B, Fabry, and MPS 1 to assess the suitability of these lysosomal storage disorders (LSDs) for public health mandated screening. METHODS: At five participating high-birth rate, ethnically diverse New York City hospitals, recruiters discussed the study with postpartum parents and documented verbal consent. Screening on consented samples was performed using multiplexed tandem mass spectrometry. Screen-positive infants underwent confirmatory enzymology, DNA testing, and biomarker quantitation when available. Affected infants are being followed for clinical management and long-term outcome. RESULTS: Over 4 years, 65,605 infants participated, representing an overall consent rate of 73%. Sixty-nine infants were screen-positive. Twenty-three were confirmed true positives, all of whom were predicted to have late-onset phenotypes. Six of the 69 currently have undetermined disease status. CONCLUSION: Our results suggest that NBS for LSDs is much more likely to detect individuals at risk for late-onset disease, similar to results from other NBS programs. This work has demonstrated the feasibility of using a novel consented pilot NBS study design that can be modified to include other disorders under consideration for public health implementation as a means to gather critical evidence for evidence-based NBS practices.


Asunto(s)
Enfermedades por Almacenamiento Lisosomal/diagnóstico , Enfermedades por Almacenamiento Lisosomal/genética , Tamizaje Neonatal/métodos , Pruebas con Sangre Seca/métodos , Femenino , Pruebas Genéticas/métodos , Genómica , Humanos , Recién Nacido , Masculino , Ciudad de Nueva York , Padres , Proyectos Piloto , Análisis de Secuencia de ADN , Espectrometría de Masas en Tándem
2.
Laryngoscope Investig Otolaryngol ; 6(2): 362-364, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33821215

RESUMEN

At the height of the coronavirus pandemic in New York City, at our hospital (NYC Health/Hospitals-Elmhurst) 95% of inpatients tested positive for COVID-19 and it operated at 500% surge ICU capacity-one of the greatest impacted centers in the nation. In the face of this we established a systematic multidisciplinary approach to manage ventilated ICU patients and select those appropriate for tracheostomy. Members from Pulmonary Critical Care, Anesthesiology, Surgery, Ethics, and Otolaryngology, created a protocolized way to assess all ICU patients in our hospital and, if deemed appropriate, help them towards weaning or tracheostomy and subsequent discharge. Given the climbing COVID numbers throughout the nation, and once again in NY, we believe sharing our protocol and brief outcomes will be very helpful for hospitals who are struggling with what we did, as it may serve as a blueprint for these institutions.

3.
PLoS One ; 15(12): e0238409, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33301498

RESUMEN

BACKGROUND: Universal screening for SARS-CoV-2 infection on Labor and Delivery (L&D) units is a critical strategy to manage patient and health worker safety, especially in a vulnerable high-prevalence community. We describe the results of a SARS-CoV-2 universal screening program at the L&D Unit at Elmhurst Hospital in Queens, NY, a 545-bed public hospital serving a diverse, largely immigrant and low-income patient population and an epicenter of the global pandemic. METHODS AND FINDINGS: We conducted a retrospective cross-sectional study. All pregnant women admitted to the L&D Unit of Elmhurst Hospital from March 29, 2020 to April 22, 2020 were included for analysis. The primary outcomes of the study were: (1) SARS-CoV-2 positivity among universally screened pregnant women, stratified by demographic characteristics, maternal comorbidities, and delivery outcomes; and (2) Symptomatic or asymptomatic presentation at the time of testing among SARS-CoV-2 positive women. A total of 126 obstetric patients were screened for SARS-CoV-2 between March 29 and April 22. Of these, 37% were positive. Of the women who tested positive, 72% were asymptomatic at the time of testing. Patients who tested positive for SARS-CoV-2 were more likely to be of Hispanic ethnicity (unadjusted difference 24.4 percentage points, CI 7.9, 41.0) and report their primary language as Spanish (unadjusted difference 32.9 percentage points, CI 15.8, 49.9) than patients who tested negative. CONCLUSIONS: In this retrospective cross-sectional study of data from a universal SARS-Cov-2 screening program implemented in the L&D unit of a safety-net hospital in Queens, New York, we found over one-third of pregnant women testing positive, the majority of those asymptomatic. The rationale for universal screening at the L&D Unit at Elmhurst Hospital was to ensure safety of patients and staff during an acute surge in SARS-Cov-2 infections through appropriate identification and isolation of pregnant women with positive test results. Women were roomed by their SARS-CoV-2 status given increasing space limitations. In addition, postpartum counseling was tailored to infection status. We quickly established discharge counseling and follow-up protocols tailored to their specific social needs. The experience at Elmhurst Hospital is instructive for other L&D units serving vulnerable populations and for pandemic preparedness.


Asunto(s)
COVID-19/diagnóstico , Complicaciones Infecciosas del Embarazo/diagnóstico , Adulto , COVID-19/epidemiología , Prueba de COVID-19 , Estudios Transversales , Femenino , Humanos , New York/epidemiología , Embarazo , Complicaciones Infecciosas del Embarazo/epidemiología , Mujeres Embarazadas , Estudios Retrospectivos , Factores de Riesgo , SARS-CoV-2/aislamiento & purificación
4.
J Perinatol ; 40(10): 1455-1458, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32778684
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA