Nonlethal multiple pterygium syndrome: Escobar syndrome.

Nonlethal Escobar is a rare disorder that is a variant of multiple pterygium syndromes. It is a form of arthrogryposis multiplex congenita characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. It is usually diagnosed in utero on fetal ultrasound and then confirmed in the neonatal period. A case of nonlethal neonatal Escobar is reported in a 35-week-and-6-day old infant who presented in utero with decreased fetal movement, oligohydramnios, and arthrogryposis. The etiologies from maternal causes were excluded prior to birth. Subsequent workup after birth led to a highly suspected diagnosis of nonlethal Escobar by the geneticist. The diagnosis was confirmed by a positive CHRNG gene sequence analysis after discharge. The infant demonstrated contractures and bilateral hip subluxation but was feeding well and was discharged home with outpatient follow-up. Treatment after discharge has been extensive secondary to difficulties associated with this disease. The clinical presentation of nonlethal Escobar, as well as diagnosis and treatment strategies, is provided with caregiving strategies.

Antibiotic timing in neonates with suspected hospital-acquired infections.

There exists general agreement within neonatology that antibiotics should be administered promptly to neonates with possible bacterial sepsis and meningitis. We initiated a series of quality improvement cycles designed to reduce delays in the initiation of antibiotic therapy to less than 2 hours when hospital-acquired infection (HAI) was suspected. All infants in this study were in neonatal intensive care (level II or III) who were started on antibiotics for a suspected HAI (defined as an infection that occurred 72 hours after admission to the NICU) were audited. Through a series of quality improvement cycles, we analyzed sources of delays in the initiation of antibiotic therapy from the time the order was written through administration. In subsequent cycles, we intervened to reduce delays through education, standardize the evaluation process, and develop an online ordering system that streamlined the workflow patterns in the nurseries and pharmacy. Using a prospective cohort design, we compared antibiotic delivery times after each process improvement cycle. Antibiotic delivery time was reduced from a median of 137.5 minutes to 75 minutes and variation of practice was reduced in terms of standard deviation and range (P < .001). The use of computerized physician order entry significantly improved the writing of STAT orders (P < .0001). A systematic analysis of workflow patterns and efficiencies, coupled with improvement cycles targeting delays and development of a computerized physician order entry system, allowed us to improve antibiotic delivery time in neonates with suspected HAI in an intensive care nursery system.

Congenital central hypoventilation syndrome: a case report.

Congenital central hypoventilation syndrome (CCHS) is a relatively rare, life-threatening, and lifelong multisystem disorder characterized by autonomic nervous system dysfunction, which mostly manifests as failure to maintain ventilatory homeostasis during sleep. Infants with CCHS have inadequate sensitivity to hypoxia and hypercapnia during sleep and in some cases during wakefulness, leading to persistent apnea. This article reports a case of CCHS in a 38-week-gestation infant who presented on day of life 2 with persistent apnea. Diagnosis of primary pulmonary, cardiac, metabolic, neurologic disease, or injury was excluded before the diagnosis of CCHS was made. The diagnosis was confirmed by a PHOX2B sequence analysis. A tracheotomy was performed and the infant was discharged home on a home ventilator with outpatient follow-up. The clinical presentation of CCHS, as well as diagnosis and treatment strategies, is reviewed.

Thermoregulation in very low-birth-weight infants during the golden hour: results and implications.

The survival of very low-birth-weight (VLBW) infants has been shown to be effected by alterations in thermoregulation. Morbidity and mortality in these VLBW infants has remained higher than those in any other group of infants because of their innate vulnerability and because of exposure to risk factors in the environment. This leaves the premature infant vulnerable to cold stress especially in the first hours to weeks of life. At birth, the VLBW infant emerges from a warm, fluid environment and is thrust into a cold, abrasive environment before the protective layers of the epidermis have developed. Within minutes of birth, the core temperature begins to fall, particularly in infants whose birth weights are less than 1500 g. Hypothermia is a major cause of morbidity and mortality in infants; therefore, maintaining normal body temperatures in the delivery room is crucial. We reviewed evidence related to thermoregulation at birth in VLBW infants, including transepidermal water loss and temperature control in the delivery room, during stabilization and upon admission to the neonatal intensive care unit. Delivery room management that focuses on the adaptation of the infant as well as early interventions that improve long-term outcomes may emphasize the "golden hour" of care and improve outcomes in this extremely vulnerable population.