RESUMO
This article presents a case review of a newborn diagnosed with a complex chromosomal rearrangement, as demonstrated through a painted chromosomal analysis. This infant presented with multiple dysmorphology including cutis aplasia, multiple ocular malformations, bilateral cleft lip and palate, and postnatal hydrocephaly. A chromosomal analysis revealed multiple-ways, balanced translocation involving chromosomes 3, 4, 6, 8, and 9. This case study provides a unique opportunity to, in retrospect, trace each malformation exploring the pathophysiology, etiology, and correlating origin with chromosomal variation. Careful review of this case, enhanced by the visually augmented representation of each translocation, will increase understanding of chromosomal anomalies and their implications in embryological development and clinical presentation.
Assuntos
Anormalidades Múltiplas/genética , Síndrome de Dandy-Walker/genética , Displasia Ectodérmica/genética , Anormalidades do Olho/genética , Translocação Genética/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/embriologia , Anormalidades Múltiplas/enfermagem , Síndrome Acrocalosal/genética , Coloração Cromossômica , Cromossomos Humanos Par 3/genética , Cromossomos Humanos Par 4/genética , Cromossomos Humanos Par 6/genética , Cromossomos Humanos Par 8/genética , Cromossomos Humanos Par 9/genética , Fenda Labial/genética , Fissura Palatina/genética , Orelha/anormalidades , Aconselhamento Genético , Humanos , Recém-Nascido , Terapia Intensiva Neonatal , Masculino , Avaliação em EnfermagemRESUMO
Despite multiple organizational incentives, the neonatal ICU (NICU) in an urban teaching hospital remained below the national average for certified nurses. A peer-to-peer program was developed to motivate, support, and encourage participants throughout the process of obtaining a national specialty certification. A detailed promotion campaign, certification packet, and process map were developed and implemented. At completion of this first-year initiative, the program yielded a 38% increase in certified unit nurses. The organization's unit total is now 59% of eligible certified neonatal nurses, well above the national average.
