RESUMEN
How should the medical team approach care for a very preterm infant with a significant painful and life-limiting condition when the parents wish to pursue all life-sustaining therapies? Here, we discuss a case of an infant born at 28 weeks' gestation with a diagnosis of Carmi syndrome (junctional epidermolysis bullosa and pyloric atresia). While the medical team felt that a do-not-resuscitate order and redirection to comfort care were appropriate, the family held on to hope for recovery and wished to continue with full intensive care measures.
Asunto(s)
Displasia Ectodérmica , Obstrucción de la Salida Gástrica , Recién Nacido , Humanos , Recien Nacido Prematuro , Píloro/anomalíasRESUMEN
The benefits of delayed cord clamping have been investigated in multiple studies and supported by various professional associations. Other aspects of umbilical cord management strategies occurring after cord clamping have not been fully thoroughly analyzed. This article will explore and deliberate elements of umbilical cord nonseverance, vascular access management, and blood banking.
Asunto(s)
Parto , Cordón Umbilical , Embarazo , Femenino , Humanos , Constricción , Factores de Tiempo , Almacenamiento de SangreRESUMEN
PURA syndrome is a rare, clinically heterogeneous disorder characterized by a wide spectrum of neurodevelopmental problems, and occasionally congenital heart defects, urogenital malformations, skeletal abnormalities and endocrine disorders. We describe the hospital course, diagnostic evaluations as well as neurologic and neuromuscular follow up of an infant diagnosed with PURA syndrome based on a pathogenic deletion at c.697_699 (p.Phe233del) of the PURA gene identified on whole exome sequencing. Upon initial examination, fluctuation of neuromuscular tone and reflexes were noted in conjunction with hypotonia and severe apneic episodes, suggestive of neuromuscular junction involvement. A definitive role of the neuromuscular junction has not been previously reported with PURA syndrome. The infant was started on pyridostigmine, an acetylcholinesterase inhibitor, with significant improvement in neuromuscular tone and motor movements. In addition, pyridostigmine also resulted in resolution of apneas and improved respiratory status which suggests its potential therapeutic role in patients with PURA syndrome.
Asunto(s)
Canalopatías , Epilepsia , Discapacidad Intelectual , Acetilcolinesterasa/genética , Apnea , Proteínas de Unión al ADN/genética , Epilepsia/genética , Humanos , Lactante , Discapacidad Intelectual/genética , Bromuro de Piridostigmina/uso terapéutico , Factores de Transcripción/genéticaRESUMEN
PURPOSE: To determine the importance of the neonatal microbiome in intestinal and overall health. METHOD: A review of existing literature. FINDINGS AND IMPLICATIONS: The microbiome is increasingly understood to have a significant role in health and disease. However, the microbiome of the preterm infant is unique, with simple microbial communities exposed to a consistent diet in a regulated environment, and development from naive to stable under the influence of the neonatal intensive care unit. This early microbiome encounters a still developing host and thus has the potential to program fundamental pathways with implications for neonatal and later outcomes.