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2.
J Pediatr ; 207: 130-135.e2, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30612812

RESUMEN

OBJECTIVE: To use a large current prospective cohort of infants <29 weeks to compare bronchopulmonary dysplasia (BPD) rates in black and white infants. STUDY DESIGN: The Prematurity and Respiratory Outcome Program (PROP) enrolled 835 infants born in 2011-2013 at <29 weeks of gestation; 728 black or white infants survived to 36 weeks postmenstrual age (PMA). Logistic regression was used to compare BPD outcomes (defined as supplemental oxygen requirement at 36 weeks PMA) between the races, adjusted for gestational age (GA), antenatal steroid use, intubation at birth, and surfactant use at birth. RESULTS: Of 707 black or white infants with available BPD outcomes, BPD was lower in black infants (38% vs 45%), even though they were of significantly lower GA. At every GA, BPD was more common in white infants. The aOR for BPD was 0.60 (95% CI, 0.42-0.85; P = .004) for black infants compared with white infants after adjusting for GA. Despite the lower rate of BPD, black infants had a higher rate of first-year post-prematurity respiratory disease (black, 79%; white, 63%). CONCLUSIONS: In this large cohort of recently born preterm infants at <29 weeks GA, compared with white infants, black infants had a lower risk of BPD but an increased risk of persistent respiratory morbidity.


Asunto(s)
Negro o Afroamericano , Displasia Broncopulmonar/etnología , Hospitalización/tendencias , Recien Nacido Prematuro , Unidades de Cuidado Intensivo Neonatal/estadística & datos numéricos , Medición de Riesgo/métodos , Estudios de Seguimiento , Edad Gestacional , Humanos , Enfermedades del Prematuro/etnología , Morbilidad/tendencias , Estudios Prospectivos , Factores de Riesgo , Tasa de Supervivencia/tendencias , Estados Unidos/epidemiología , Población Blanca
3.
J Pediatr ; 163(2): 383-7, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23477994

RESUMEN

OBJECTIVE: To determine whether individuals with primary ciliary dyskinesia (PCD) from unrelated Amish and Mennonite families harbor a single and unique founder mutation. STUDY DESIGN: Subjects from Amish and Mennonite communities in several states were enrolled in the study. All subjects were clinically characterized, and nasal nitric oxide levels were measured. Nasal epithelial scrapings were collected from several subjects for ciliary ultrastructural analyses. DNA was isolated from patients with PCD and their unaffected first- and second-degree relatives. Genome-wide homozygosity mapping, linkage analyses, targeted mutation analyses, and exome sequencing were performed. RESULTS: All subjects from Old-Order Amish communities from Pennsylvania were homozygous for a nonsense mutant DNAH5 allele, c.4348C>T (p.Q1450X). Two affected siblings from an unrelated Mennonite family in Arkansas were homozygous for the same nonsense DNAH5 mutation. Children with PCD from an Amish family from Wisconsin had biallelic DNAH5 mutations, c.4348C>T (p.Q1450X) and c.10815delT (p.P3606HfsX23), and mutations in other genes associated with PCD were also identified in this community. CONCLUSION: The Amish and Mennonite subjects from geographically dispersed and socially isolated communities had the same founder DNAH5 mutation, owing to the common heritage of these populations. However, disease-causing mutations in other PCD-associated genes were also found in affected individuals in these communities, illustrating the genetic heterogeneity in this consanguineous population.


Asunto(s)
Amish/genética , Síndrome de Kartagener/genética , Mutación , Adolescente , Arkansas , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Linaje , Pennsylvania , Wisconsin
5.
J Pediatr ; 156(6): 1023-1025, 2010 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-20350728

RESUMEN

Primary ciliary dyskinesia is an autosomal recessive multigenic disease that results in impaired mucociliary clearance. We have diagnosed 9 subjects with primary ciliary dyskinesia from geographically dispersed Amish communities, on the basis of clinical characteristics and ciliary ultrastructural defects. Despite consanguinity, affected individuals had evidence of genetic heterogeneity.


Asunto(s)
Trastornos de la Motilidad Ciliar/epidemiología , Adolescente , Adulto , Niño , Preescolar , Cristianismo , Cilios/ultraestructura , Trastornos de la Motilidad Ciliar/genética , Consanguinidad , Análisis Mutacional de ADN , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Depuración Mucociliar/genética , Linaje , Adulto Joven
6.
J Pediatr ; 151(1): 90-2, 2007 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-17586197

RESUMEN

Panton-Valentine leukocidin-producing Staphylococcus aureus is an emerging pathogen world-wide, causing necrotizing lung infections in otherwise healthy individuals. We describe 2 episodes of patient-to-patient transmission of Panton-Valentine leukocidin-producing S. aureus, resulting in acute, life-threatening pulmonary complications in patients with cystic fibrosis. Appropriate infection control measures may be warranted to prevent similar episodes.


Asunto(s)
Toxinas Bacterianas/biosíntesis , Fibrosis Quística/complicaciones , Transmisión de Enfermedad Infecciosa , Exotoxinas/biosíntesis , Leucocidinas/biosíntesis , Neumonía Bacteriana/microbiología , Neumonía Bacteriana/transmisión , Infecciones Estafilocócicas/microbiología , Infecciones Estafilocócicas/transmisión , Antibacterianos/uso terapéutico , Preescolar , Trazado de Contacto , Fibrosis Quística/diagnóstico , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Resistencia a la Meticilina , Medición de Riesgo , Índice de Severidad de la Enfermedad , Hermanos , Infecciones Estafilocócicas/diagnóstico , Infecciones Estafilocócicas/tratamiento farmacológico , Staphylococcus aureus/aislamiento & purificación , Resultado del Tratamiento
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