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OBJECTIVE: We investigated the trends of blood absolute monocyte count (AMC) over 72 h after suspecting necrotizing enterocolitis (NEC). STUDY DESIGN: A single center, retrospective study, the AMC was plotted over 72 h after NEC evaluation. Receiver operating characteristic (ROC) curve analysis assessed change in AMC to identify absence of NEC and different NEC stages. RESULTS: In 130 infants, the AMC decreased in patients with NEC stage 2 or 3. Stages 2 and 3 NEC experienced a drop in AMC compared to an increase in no NEC, possible NEC, or positive culture (p < 0.05). AMC increase 24% or less can differentiate NEC stage 2/3 from possible NEC with an area under the curve (AUC) of 0.78. While decrease of more than 32% can differentiate stage 2/3 vs. possible or no NEC with AUC of 0.71. DISCUSSION/CONCLUSIONS: A decrease in AMC can be an adjunct biomarker to confirm the diagnosis of NEC.
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Multidisciplinary bronchopulmonary dysplasia (BPD) programs provide improved and consistent medical management, care of the developing infant, family support, and smoother transitions in care resulting in improved survival, pulmonary, and extra-pulmonary outcomes. This review summarizes the benefits of interdisciplinary BPD management, as well as strategies for initial programmatic development, program growth, and maintenance at centers across the United States factoring in institutional, provider, and parent reported goals that were derived from a consensus conference on BPD management.
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OBJECTIVE: To provide the best clinical practice guidance for surfactant use in preterm neonates with respiratory distress syndrome (RDS). The RDS-Neonatal Expert Taskforce (RDS-NExT) initiative was intended to add to existing evidence and clinical guidelines, where evidence is lacking, with input from an expert panel. STUDY DESIGN: An expert panel of healthcare providers specializing in neonatal intensive care was convened and administered a survey questionnaire, followed by 3 virtual workshops. A modified Delphi method was used to obtain consensus around topics in surfactant use in neonatal RDS. RESULT: Statements focused on establishing RDS diagnosis and indicators for surfactant administration, surfactant administration methods and techniques, and other considerations. After discussion and voting, consensus was achieved on 20 statements. CONCLUSION: These consensus statements provide practical guidance for surfactant administration in preterm neonates with RDS, with a goal to contribute to improving the care of neonates and providing a stimulus for further investigation to bridge existing knowledge gaps.
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Surfactantes Pulmonares , Síndrome de Dificultad Respiratoria del Recién Nacido , Recién Nacido , Humanos , Recien Nacido Prematuro , Tensoactivos/uso terapéutico , Síndrome de Dificultad Respiratoria del Recién Nacido/tratamiento farmacológico , Surfactantes Pulmonares/uso terapéutico , Cuidado Intensivo NeonatalRESUMEN
Total parental nutrition (TPN) is a critical component of neonatal intensive care. Supply shortages leading to deficiencies in TPN constituents can have devastating consequences for critically ill patients in the neonatal intensive care unit (NICU), who may be initially misdiagnosed as potential inborn errors of metabolism. Here, we present three cases of patients with prolonged TPN dependence due to intra-abdominal pathology who presented with signs and symptoms concerning for metabolic disorders and who were ultimately determined to be a result of vitamin deficiencies in the TPN after unnecessary testing and interventions had occurred. These diagnostic errors highlight the need for clinicians to maintain a high index of suspicion for nutritional deficiencies when treating patients in the NICU with potential metabolic disorders during times when TPN constituents are not available, as well as advocating to ensure that adequate supplies are maintained for this vulnerable population.
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OBJECTIVE: This study aimed to assess interaction effects between gestational age and birth weight on 30-day unplanned hospital readmission following discharge from the neonatal intensive care unit (NICU). STUDY DESIGN: This is a retrospective study that uses the study site's Children's Hospitals Neonatal Database and electronic health records. Population included patients discharged from a NICU between January 2017 and March 2020. Variables encompassing demographics, gestational age, birth weight, medications, maternal data, and surgical procedures were controlled for. A statistical interaction between gestational age and birth weight was tested for statistical significance. RESULTS: A total of 2,307 neonates were included, with 7.2% readmitted within 30 days of discharge. Statistical interaction between birth weight and gestational age was statistically significant, indicating that the odds of readmission among low birthweight premature patients increase with increasing gestational age, whereas decrease with increasing gestational age among their normal or high birth weight peers. CONCLUSION: The effect of gestational age on odds of hospital readmission is dependent on birth weight. KEY POINTS: · Population included patients discharged from a NICU between January 2017 and March 2020.. · A total of 2,307 neonates were included, with 7.2% readmitted within 30 days of discharge.. · The effect of gestational age on odds of hospital readmission is dependent on birth weight..
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OBJECTIVE: To quantify the effect of early rescue surfactant administration techniques for preterm infants with respiratory distress syndrome (RDS) from a health care delivery system perspective. METHODS: A cost-consequence model was developed based on previously published literature to compare the health economic impact of implementing early surfactant administration strategies vs standard surfactant administration via endotracheal intubation and mechanical ventilation (MV). RESULTS: Early rescue surfactant treatment strategies are associated with a decrease in the number of patients requiring MV, cumulative MV days, and rate of neonatal complications. Total annual surfactant costs are higher than standard surfactant administration, but this is offset by savings in total hospital and complication costs. CONCLUSIONS: This cost-consequence analysis suggests selective early rescue surfactant administration strategies are associated with a lower health care burden in premature infants with RDS.
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We describe a case of osteogenesis imperfecta (OI) in a late preterm female of 35-week gestation. The mother did have a history of substance abuse, poor prenatal care, and hypertension. On the day of delivery, an ultrasound revealed skeletal dysplasia and breech with nonreassuring fetal tracing, leading to an emergency cesarean. The clinical exam was concerning for OI, and postnatal care was focused on optimizing respiratory status and minimizing pain and discomfort during routine care. Genetics, endocrine, orthopaedics, and palliative care were all involved to diagnose and educate the family. Support and education were needed for bedside staff to minimize angst at performing routine care, given the high risk of fractures. While initially stable on minimal oxygen, once the diagnosis of type III OI was made, a progressively deforming condition with respiratory status decompensation, the family wished to minimize suffering, limited aggressive medical care, and focused on comfort. The infant eventually died from respiratory failure in the neonatal intensive care unit. We present this case to demonstrate the need for an interdisciplinary team approach to support both family and staff in cases of OI.
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We describe a case of osteogenesis imperfecta (OI) in a late preterm female of 35-week gestation. The mother did have a history of substance abuse, poor prenatal care, and hypertension. On the day of delivery, an ultrasound revealed skeletal dysplasia and breech with nonreassuring fetal tracing, leading to an emergency cesarean. The clinical exam was concerning for OI, and postnatal care was focused on optimizing respiratory status and minimizing pain and discomfort during routine care. Genetics, endocrine, orthopaedics, and palliative care were all involved to diagnose and educate the family. Support and education were needed for bedside staff to minimize angst at performing routine care, given the high risk of fractures. While initially stable on minimal oxygen, once the diagnosis of type III OI was made, a progressively deforming condition with respiratory status decompensation, the family wished to minimize suffering, limited aggressive medical care, and focused on comfort. The infant eventually died from respiratory failure in the neonatal intensive care unit. We present this case to demonstrate the need for an interdisciplinary team approach to support both family and staff in cases of OI.
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OBJECTIVES: Data on coronavirus disease 2019 (COVID-19) infections in neonates are limited. We aimed to identify and describe the incidence, presentation, and clinical outcomes of neonatal COVID-19. METHODS: Over 1 million neonatal encounters at 109 United States health systems, from March 2020 to February 2021, were extracted from the Cerner Real World Database. COVID-19 diagnosis was assessed using severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) laboratory tests and diagnosis codes. Incidence of COVID-19 per 100 000 encounters was estimated. RESULTS: COVID-19 was diagnosed in 918 (0.1%) neonates (91.1 per 100 000 encounters [95% confidence interval 85.3-97.2]). Of these, 71 (7.7%) had severe infection (7 per 100 000 [95% confidence interval 5.5-8.9]). Median time to diagnosis was 14.5 days from birth (interquartile range 3.1-24.2). Common signs of infection were tachypnea and fever. Those with severe infection were more likely to receive respiratory support (50.7% vs 5.2%, P < .001). Severely ill neonates received analgesia (38%), antibiotics (33.8%), anticoagulants (32.4%), corticosteroids (26.8%), remdesivir (2.8%), and COVID-19 convalescent plasma (1.4%). A total of 93.6% neonates were discharged home after care, 1.1% were transferred to another hospital, and discharge disposition was unknown for 5.2%. One neonate (0.1%) with presentation suggestive of multisystem inflammatory syndrome in children died after 11 days of hospitalization. CONCLUSIONS: Most neonates infected with SARS-CoV-2 were asymptomatic or developed mild illness without need for respiratory support. Some had severe illness requiring treatment of COVID-19 with remdesivir and COVID-19 convalescent plasma. SARS-CoV-2 infection in neonates, though rare, may result in severe disease.
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COVID-19 , Antibacterianos , Anticoagulantes , COVID-19/complicaciones , COVID-19/epidemiología , COVID-19/terapia , Prueba de COVID-19 , Niño , Humanos , Inmunización Pasiva , Recién Nacido , SARS-CoV-2 , Síndrome de Respuesta Inflamatoria Sistémica , Estados Unidos/epidemiología , Sueroterapia para COVID-19RESUMEN
OBJECTIVE: To describe characteristics, outcomes, and risk factors for death or tracheostomy with home mechanical ventilation in full-term infants with chronic lung disease (CLD) admitted to regional neonatal intensive care units. STUDY DESIGN: This was a multicenter, retrospective cohort study of infants born ≥37 weeks of gestation in the Children's Hospitals Neonatal Consortium. RESULTS: Out of 67,367 full-term infants admitted in 2010-2016, 4886 (7%) had CLD based on receiving respiratory support at either 28 days of life or discharge. 3286 (67%) were still hospitalized at 28 days receiving respiratory support, with higher mortality risk than those without CLD (10% vs. 2%, p < 0.001). A higher proportion received tracheostomy (13% vs. 0.3% vs. 0.4%, p < 0.001) and gastrostomy (30% vs. 1.7% vs. 3.7%, p < 0.001) compared to infants with CLD discharged home before 28 days and infants without CLD, respectively. The diagnoses and surgical procedures differed significantly between the two CLD subgroups. Small for gestational age, congenital pulmonary, airway, and cardiac anomalies and bloodstream infections were more common among infants with CLD who died or required tracheostomy with home ventilation (p < 0.001). Invasive ventilation at 28 days was independently associated with death or tracheostomy and home mechanical ventilation (odds ratio 7.6, 95% confidence interval 5.9-9.6, p < 0.0001). CONCLUSION: Full-term infants with CLD are at increased risk for morbidity and mortality. We propose a severity-based classification for CLD in full-term infants. Future work to validate this classification and its association with early childhood outcomes is necessary.
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Cuidado Intensivo Neonatal , Enfermedades Pulmonares , Niño , Preescolar , Enfermedad Crónica , Femenino , Hospitales Pediátricos , Humanos , Lactante , Recién Nacido , Enfermedades Pulmonares/epidemiología , Enfermedades Pulmonares/etiología , Enfermedades Pulmonares/terapia , Estudios RetrospectivosRESUMEN
OBJECTIVE: To compare three bronchopulmonary dysplasia (BPD) definitions against hospital outcomes in a referral-based population. STUDY DESIGN: Data from the Children's Hospitals Neonatal Consortium were classified by 2018 NICHD, 2019 NRN, and Canadian Neonatal Network (CNN) BPD definitions. Multivariable models evaluated the associations between BPD severity and death, tracheostomy, or length of stay, relative to No BPD references. RESULTS: Mortality was highest in 2019 NRN Grade 3 infants (aOR 225), followed by 2018 NICHD Grade 3 (aOR 145). Infants with lower BPD grades rarely died (<1%), but Grade 2 infants had aOR 7-21-fold higher for death and 23-56-fold higher for tracheostomy. CONCLUSIONS: Definitions with 3 BPD grades had better discrimination and Grade 3 2019 NRN had the strongest association with outcomes. No/Grade 1 infants rarely had severe outcomes, but Grade 2 infants were at risk. These data may be useful for counseling families and determining therapies for infants with BPD.
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Displasia Broncopulmonar , Displasia Broncopulmonar/complicaciones , Canadá , Niño , Edad Gestacional , Hospitales , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro , Estudios RetrospectivosRESUMEN
OBJECTIVE: This work aimed to study perinatal, maternal, and neonatal characteristics of birth tourism (BT) mother-baby dyads and the rate of neonatal intensive care unit (NICU) admissions of BT infants. STUDY DESIGN: Retrospective study at a regional perinatal center comparing BT mother-baby dyads to all dyads. BT infants admitted to the NICU were compared with a randomly selected group of infants admitted to the NICU during the same time period. RESULTS: A total of 1,755 BT dyads were identified over 4 years. BT mothers were older (32 vs. 28 years, p < 0.0001), more likely to carry multiples (5.5 vs. 1.4%, p < 0.0001), deliver via cesarean section (40 vs. 34%, p < 0.0001), and require postpartum intensive care (0.6 vs. 0.1%, p < 0.0001). BT infants had significantly fewer NICU admissions 96 (5.5%) versus 3,213 (11.3%; p < 0.0001). There were no statistically significant differences in NICU course and outcome between BT and non-BT control infants. CONCLUSION: Birth tourism is associated with unique determinants of health. In our study, there were fewer NICU admissions, potentially explained by the healthy migrant effect. KEY POINTS: · Birthright citizenship attracts foreigners to give birth in the United States.. · BT is associated with unique social determinants of health.. · Fewer NICU admissions in our study are possibly explained by the healthy migrant effect..
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Unidades de Cuidado Intensivo Neonatal , Migrantes , Cesárea , Femenino , Humanos , Lactante , Recién Nacido , Embarazo , Estudios Retrospectivos , TurismoRESUMEN
We describe a case of late onset Morganella morganii sepsis in an extremely low birth weight male neonate born at 23 and 4/7 weeks gestational age to a 30-year-old primigravid mother due to preterm labor. The mother was otherwise healthy with an unremarkable prenatal course. She received steroids and ampicillin prior to delivery. While initial blood cultures were negative, at day of life 4, the neonate developed signs of sepsis with leukocytosis and bandemia, and subsequent blood culture demonstrated growth of M. morganii . The patient then had spontaneous intestinal perforation on day of life 8 with peritoneal cultures growing M. morganii . The infant responded to standard therapy and survived to discharge, with few mild developmental delays upon outpatient follow-up. While M. morganii has been demonstrated in the neonatal population, it generally causes early onset sepsis and is associated with high mortality in preterm neonates. Here, we present this case of late onset neonatal sepsis with M. morganii complicated by spontaneous intestinal perforation, with survival in a 23 weeks gestation infant.
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OBJECTIVE: To evaluate the association between the time of first systemic corticosteroid initiation and bronchopulmonary dysplasia (BPD) in preterm infants. STUDY DESIGN: A multi-center retrospective cohort study from January 2010 to December 2016 using the Children's Hospitals Neonatal Database and Pediatric Health Information System database was conducted. The study population included preterm infants <32 weeks' gestation treated with systemic corticosteroids after 7 days of age and before 34 weeks' postmenstrual age. Stepwise multivariable logistic regression was used to assess the association between timing of corticosteroid initiation and the development of Grade 2 or 3 BPD as defined by the 2019 Neonatal Research Network criteria. RESULTS: We identified 598 corticosteroid-treated infants (median gestational age 25 weeks, median birth weight 760 g). Of these, 47% (280 of 598) were first treated at 8-21 days, 25% (148 of 598) were first treated at 22-35 days, 14% (86 of 598) were first treated at 36-49 days, and 14% (84 of 598) were first treated at >50 days. Infants first treated at 36-49 days (aOR 2.0, 95% CI 1.1-3.7) and >50 days (aOR 1.9, 95% CI 1.04-3.3) had higher independent odds of developing Grade 2 or 3 BPD when compared to infants treated at 8-21 days after adjusting for birth characteristics, admission characteristics, center, and co-morbidities. CONCLUSIONS: Among preterm infants treated with systemic corticosteroids in routine clinical practice, later initiation of treatment was associated with a higher likelihood to develop Grade 2 or 3 BPD when compared to earlier treatment.
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Displasia Broncopulmonar , Corticoesteroides/uso terapéutico , Displasia Broncopulmonar/tratamiento farmacológico , Displasia Broncopulmonar/epidemiología , Niño , Edad Gestacional , Glucocorticoides , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro , Estudios RetrospectivosRESUMEN
OBJECTIVE: To compare the abilities of bronchopulmonary dysplasia (BPD) definitions to predict hospital charges as a surrogate of disease complexity. METHODS: Retrospective study of infants admitted to the neonatal intensive care unit (NICU) less than 32 weeks gestational age. Subjects were classified according to the Canadian Neonatal Network (CNN), the National Institute of Child Health and Human Development (NICHD) (2018), and Jensen BPD definitions as none, mild (1), moderate (2), or severe (3) BPD. Spearman's correlation was performed to evaluate the association of BPD definitions with health economics outcomes. RESULTS: One hundred and sixty-eight infants were included with mean birth weight of 1197 g and mean gestational age of 28.4 weeks. More infants were classified as no BPD according to CNN definition (79%) in comparison to NICHD 2018 (64.3%) and Jensen (59.5%) definitions. There were fewer infants as the grade of severity increased for all definitions, this was most linear for Jensen definition with Grade 1 present in 25%, Grade 2 in 12.5%, and Grade 3 in 3%. A stronger correlation with NICU length of stay, NICU hospital charges, NICU charges per day, and first year of life hospital charges was detected for Jensen definition (correlation coefficient of 0.58, 0.66, 0.64, 0.67, respectively) in comparison to CNN and NICHD 2018 definitions (p < .0001). CONCLUSION: Jensen BPD definition had the strongest correlation with first year health economics outcomes in our study. Validating recent BPD definitions using population-based data is imperative to improve family counseling and enhance the designs of quality improvement initiatives and therapeutic research studies targeting patient-centric outcomes.
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Displasia Broncopulmonar/economía , Precios de Hospital , Unidades de Cuidado Intensivo Neonatal/economía , Índice de Severidad de la Enfermedad , Canadá , Femenino , Humanos , Recien Nacido Extremadamente Prematuro , Recién Nacido , Masculino , Estudios RetrospectivosRESUMEN
We describe a fetus at 24 3/7 weeks' gestation that showed ultrasound evidence of anemia, hydrops, and severe growth restriction. Both parents were known to be cis heterozygous carriers for SEA α-thalassemia deletion (αα/-). Cordocentesis confirmed fetal anemia and homozygous α-thalassemia (-/-) in the fetus. Fetal intrauterine transfusions corrected the anemia, treated the hydrops, and improved fetal growth. The postnatal course was complicated by hypoxic respiratory failure and persistent pulmonary hypertension of the newborn, which resolved only after partial volume exchange transfusion. This case report is presented to point out the potential unintended outcomes with transplacental transfusion via delayed cord clamping and cord milking at delivery in the setting of congenital Bart's hemoglobinopathy, and demonstrates that partial exchange transfusion of the newborn may optimize oxygen delivery due to the more favorable oxygen affinity of transfused adult hemoglobin compared with the Bart's hemoglobin.
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BACKGROUND: Recent studies reported conflicting results on the relationship between antenatal magnesium sulfate (MgSO4) exposure and neonatal intestinal injury. Most studies have not assessed MgSO4 exposure quantitatively and none reported the exposure timing. OBJECTIVES: The aim of this work was to assess whether there is a temporal or dose-dependent relationship between antenatal MgSO4 exposure and intestinal injury in extremely preterm neonates. METHODS: A retrospective study was made of inborn neonates with gestational age ≤28 weeks and/or birth weights ≤1,000 g. Primary outcomes included necrotizing enterocolitis (NEC), spontaneous intestinal perforation (SIP), and/or death prior to discharge or in the first 2 weeks of life. Outcome comparisons were made based on the timing of MgSO4 exposure, within 7 days (Mg7D) or within 3 days (Mg3D) of birth. Total cumulative doses for the Mg3D group were also computed. RESULTS: A total of 302 neonates were included, 210 in the Mg7D group, out of whom 179 (85.2%) constituted the Mg3D group. There were no differences noted when comparing MgSO4 exposure timing and the likelihood of NEC, SIP, and/or death. This remained the same for subgroup analysis of neonates < 26 weeks' gestation. Each 10-g increase in MgSO4 cumulative dose correlated with a decrease in SIP/NEC/death by 18.9% prior to discharge and by 21.9% in the first 2 weeks of life. Small for gestational age (SGA) was a potential effect modifier by a likelihood ratio test with p = 0.07. CONCLUSIONS: Antenatal MgSO4 exposure in extremely preterm neonates was not associated with an increased risk of intestinal injury or death, and might have reduced these complications in a dose-dependent manner in our study. This protective effect was more noticeable in SGA neonates.
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Recien Nacido Extremadamente Prematuro , Enfermedades del Prematuro/inducido químicamente , Perforación Intestinal/inducido químicamente , Sulfato de Magnesio/efectos adversos , Efectos Tardíos de la Exposición Prenatal/inducido químicamente , California , Relación Dosis-Respuesta a Droga , Femenino , Edad Gestacional , Humanos , Recién Nacido , Enfermedades del Prematuro/prevención & control , Recién Nacido Pequeño para la Edad Gestacional , Modelos Logísticos , Sulfato de Magnesio/administración & dosificación , Masculino , Análisis Multivariante , Embarazo , Efectos Tardíos de la Exposición Prenatal/epidemiología , Estudios RetrospectivosRESUMEN
OBJECTIVES: Determine incidence of preoperative adrenal insufficiency in neonates >35 weeks gestation with congenital heart disease undergoing cardiothoracic surgery with bypass and effects of prophylactic methylprednisolone on postoperative hypothalamic-pituitary-adrenal function and hemodynamic stability. DESIGN: Prospective observational study in 36 neonates with preoperative adrenocorticotrophic hormone stimulation tests and serial total cortisol and adrenocorticotrophic hormone measurements before and after surgery. Data analyses: analysis of variance and regression. RESULTS: Baseline circulating adrenocorticotrophic hormone and cortisol were unchanged 4-20 days postnatal (P > 0.1); however, cortisol levels rose with increasing adrenocorticotrophic hormone, P = 0.02. Ten neonates (29%) demonstrated preoperative adrenal insufficiency (∆cortisol ≤9 µg/dl); one had postoperative hemodynamic instability. Growth-restricted neonates had lower baseline cortisol, but normal stimulation tests and responded well to surgical stresses. Seventy-five percent of neonates receiving perioperative methylprednisolone demonstrated postoperative hypothalamic-pituitary-adrenal inhibition. CONCLUSION: Adrenal insufficiency appears common in neonates >35 weeks gestation with congenital heart disease, but did not contribute to postoperative hemodynamic instability despite hypothalamic-pituitary-adrenal inhibition.
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Insuficiencia Suprarrenal/fisiopatología , Puente Cardiopulmonar/efectos adversos , Glucocorticoides/uso terapéutico , Cardiopatías Congénitas/cirugía , Sistema Hipotálamo-Hipofisario/fisiopatología , Sistema Hipófiso-Suprarrenal/fisiopatología , Insuficiencia Suprarrenal/tratamiento farmacológico , Hormona Adrenocorticotrópica/sangre , Femenino , Cardiopatías Congénitas/complicaciones , Humanos , Hidrocortisona/sangre , Recién Nacido , Modelos Lineales , Masculino , Estudios ProspectivosRESUMEN
OBJECTIVE: To compare the effect of two-hourly (Q2H) vs. three-hourly (Q3H) feeding on time to achieve full enteral feeding, growth metrics and respiratory tolerance in very preterm infants with birth weightâ¯≤â¯1250â¯g. STUDY DESIGN: Retrospective study review of 18â¯months before and after a change in our feeding guideline from Q3H to Q2H feedings. RESULTS: 113 infants were included, 59 in Q3H and 54 in Q2H groups. Q2H infants required 10% more days to achieve full enteral feeding, however it was not statistically significant (Pâ¯=â¯0.054). Q2H feeding was associated with 16% more central catheter days (Pâ¯=â¯0.02) and 17% more parenteral nutrition days (Pâ¯=â¯0.019). There were no differences in respiratory outcomes or growth metrics between the groups. CONCLUSION: Very preterm infants fed Q3H had less central catheter and parenteral nutrition days when compared to those fed Q2H, without significant differences in growth or respiratory outcomes.
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Nutrición Enteral/métodos , Recien Nacido Extremadamente Prematuro/fisiología , Adulto , Femenino , Humanos , Recien Nacido Extremadamente Prematuro/crecimiento & desarrollo , Recién Nacido , Recién Nacido Pequeño para la Edad Gestacional , Cuidado Intensivo Neonatal/métodos , Masculino , Análisis Multivariante , Nutrición Parenteral , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
Epidermolysis bullosa (EB) is characterized by blistering of the skin and mucosal erosions caused by hemidesmosomal abnormalities. EB is divided into 3 major subgroups depending on the particular location of tissue separation: EB simplex, dystrophic EB, and junctional EB. Junctional EB (JEB) can further be broken down into Herlitz, non-Herlitz, and JEB with pyloric atresia (Carmi syndrome) depending on genetic and histologic testing. When extensive, management of a patient with EB can be challenging due to not only cutaneous but also extracutaneous manifestations as well. Families and health care teams are often faced with difficult decisions in their infant's best interest. We report a case of a preterm neonate with Carmi syndrome and unique findings on immunofluorescence studies. The patient's course was complicated by multisystem involvement and ultimately death. A multidisciplinary approach was crucial in the light of diagnostic, therapeutic, and ethical challenges.