ABSTRACT
Branchio-oto-renal syndrome is characterized by branchial defects, hearing loss, preauricular pits, and renal anomalies. Mutations in EYA1 are the most common cause of branchio-oto-renal and branchio-otic syndromes. Large chromosomal aberrations of 8q13, including complex rearrangements occur in about 20% of these individuals. However, submicroscopic deletions and the molecular characterization of genomic rearrangements involving the EYA1 gene have rarely been reported. Using the array-comparative genomic hybridization, we identified non-recurrent genomic deletions including the EYA1 gene in three patients with branchio-oto-renal syndrome, short stature, and developmental delay. One of these deletions was mediated by two human endogenous retroviral sequence blocks, analogous to the AZFa microdeletion on Yq11, responsible for male infertility. This report describes the expanded phenotype of individuals, resulting from contiguous gene deletion involving the EYA1 gene and provides a molecular description of the genomic rearrangements involving this gene in branchio-oto-renal syndrome.
Subject(s)
Branchio-Oto-Renal Syndrome/genetics , Endogenous Retroviruses/genetics , Gene Rearrangement/genetics , Intracellular Signaling Peptides and Proteins/genetics , Nuclear Proteins/genetics , Protein Tyrosine Phosphatases/genetics , Child , Child, Preschool , Chromosome Deletion , Comparative Genomic Hybridization , Female , Gene Deletion , Genome, Human/genetics , Humans , Infant , Infant, Newborn , Male , Pregnancy , Protein Tyrosine Phosphatase, Non-Receptor Type 11/geneticsABSTRACT
Much has been written on parental involvement in decision making when dealing with critically ill children, but few articles have touched upon parental refusal of treatment in noncritically ill children. What steps should be taken when a parent refuses what is generally considered "standard of care" medicine for their hospitalized child? Does medical advice outweigh parental views or wishes, and what does one do when our role as physician turns from medical expert into one of medical negotiator? The following case and discussion deal with parental refusal of conventional medical care, and how one may find peaceful resolutions to challenging situations for the ultimate good of the child.
Subject(s)
Dissent and Disputes , Intensive Care Units, Neonatal , Medical Staff, Hospital/psychology , Parents/psychology , Professional-Family Relations , Treatment Refusal , Adult , Conflict, Psychological , Decision Making , Homeopathy , Humans , Infant, Newborn , Pneumonia/therapyABSTRACT
En un estudio prospectivo, determinamos en una forma secuencial la actividad plasmática de renina (PRA) en los días 1, 3, 10, 17 y 24 de vida, en 16 recién nacidos prematuros no enfermos con una edad gestacional de 34.5+ - 0.9 semanas y un peso de 1,830 + - 268 g. Todos los pacientes incluidos en el estudio tenían que cumplir con los siguientes criterios: alimentación con leche materna, Apgar mayor de 7 a los 5 minutos y no padecer de ningún problema. La PRA alcanzó su pico máxima al 10o. día: 139.1 + - 82.9 ng/mLh. Los niveles séricos de sodio estuvieron en límites bajos desde el primer día de vida, y permanecieron así durante todo el tiempo de estudio. En base a nuestros resultados se puede especular que la actividad plasmática de renina en el recién nacido pretérmino persiste elevada durante el primer mes de vida, y parece estar relacionada con la hiponatremia fisiológica del prematuro que se acentúa más alrededor de la tercera y cuarta semana de vida