Heme oxygenase-1 promoter polymorphisms and risk of spina bifida
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
2015; 103 (9): 741-746
A randomized clinical trial of therapeutic hypothermia mode during transport for neonatal encephalopathy.
journal of pediatrics
2015; 166 (4): 856-61 e1 2
Spina bifida is the most common form of neural tube defects (NTDs). Etiologies of NTDs are multifactorial, and oxidative stress is believed to play a key role in NTD development. Heme oxygenase (HO), the rate-limiting enzyme in heme degradation, has multiple protective properties including mediating antioxidant processes, making it an ideal candidate for study. The inducible HO isoform (HO-1) has two functional genetic polymorphisms: (GT)n dinucleotide repeats and A(-413)T SNP (rs2071746), both of which can affect its promoter activity. However, no study has investigated a possible association between HO-1 genetic polymorphisms and risk of NTDs.This case-control study included 152 spina bifida cases (all myelomeningoceles) and 148 nonmalformed controls obtained from the California Birth Defects Monitoring Program reflecting births during 1990 to 1999. Genetic polymorphisms were determined by polymerase chain reaction and amplified fragment length polymorphisms/restriction fragment length polymorphisms using genomic DNA extracted from archived newborn blood spots. Genotype and haplotype frequencies of two HO-1 promoter polymorphisms between cases and controls were compared.For (GT)n dinucleotide repeat lengths and the A(-413)T SNP, no significant differences in allele frequencies or genotypes were found. Linkage disequilibrium was observed between the HO-1 polymorphisms (D': 0.833); however, haplotype analyses did not show increased risk of spina bifida overall or by race/ethnicity.Although, an association was not found between HO-1 polymorphisms and risk of spina bifida, we speculate that the combined effect of low HO-1 expression and exposures to known environmental oxidative stressors (low folate status or diabetes), may overwhelm antioxidant defenses and increase risk of NTDs and warrants further study. Birth Defects Research (Part A), 2014. © 2014 Wiley Periodicals, Inc.
View details for DOI 10.1002/bdra.23343
View details for Web of Science ID 000361245800001
View details for PubMedID 26173399
SUNDROP: six years of screening for retinopathy of prematurity with telemedicine
CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE
2015; 50 (2): 101-106
To determine if temperature regulation is improved during neonatal transport using a servo-regulated cooling device when compared with standard practice.We performed a multicenter, randomized, nonmasked clinical trial in newborns with neonatal encephalopathy cooled during transport to 9 neonatal intensive care units in California. Newborns who met institutional criteria for therapeutic hypothermia were randomly assigned to receive cooling according to usual center practices vs device servo-regulated cooling. The primary outcome was the percentage of temperatures in target range (33°-34°C) during transport. Secondary outcomes included percentage of newborns reaching target temperature any time during transport, time to target temperature, and percentage of newborns in target range 1 hour after cooling initiation.One hundred newborns were enrolled: 49 to control arm and 51 to device arm. Baseline demographics did not differ with the exception of cord pH. For each subject, the percentage of temperatures in the target range was calculated. Infants cooled using the device had a higher percentage of temperatures in target range compared with control infants (median 73% [IQR 17-88] vs 0% [IQR 0-52], P < .001). More subjects reached target temperature during transport using the servo-regulated device (80% vs 49%, P <.001), and in a shorter time period (44 ± 31 minutes vs 63 ± 37 minutes, P = .04). Device-cooled infants reached target temperature by 1 hour with greater frequency than control infants (71% vs 20%, P < .001).Cooling using a servo-regulated device provides more predictable temperature management during neonatal transport than does usual care for outborn newborns with neonatal encephalopathy.
View details for DOI 10.1016/j.jpeds.2014.12.061
View details for PubMedID 25684087
A Randomized Clinical Trial of Therapeutic Hypothermia Mode during Transport for Neonatal Encephalopathy
JOURNAL OF PEDIATRICS
2015; 166 (4): 856-U138
New technique for umbilical artery catheter placement in the neonate.
journal of pediatrics
2015; 166 (2): 501-?
Index of suspicion.
Pediatrics in review
2014; 35 (10): 439-446
Red Blood Cell Transfusion Is Not Associated with Necrotizing Enterocolitis: A Review of Consecutive Transfusions in a Tertiary Neonatal Intensive Care Unit
JOURNAL OF PEDIATRICS
2014; 165 (4): 678-682
Mediastinal Kaposiform Hemangioendothelioma and Kasabach-Merritt Phenomenon in a Patient with no Skin Changes and a Normal Chest CT
PEDIATRIC HEMATOLOGY AND ONCOLOGY
2014; 31 (6): 563-567
To report the 6-year results of the Stanford University Network for Diagnosis of Retinopathy of Prematurity (SUNDROP) initiative in the context of telemedicine screening initiatives for retinopathy of prematurity (ROP).A retrospective analysis.Premature newborns requiring ROP screening at 6 neonatal intensive care units from December 1, 2005, to November 30, 2011.Infants were evaluated via remote retinal photography by an ROP specialist. A total of 608 preterm infants meeting ROP examination criteria were screened with the RetCam II/III (Clarity Medical Systems, Pleasanton, Calif.). Primary outcomes were treatment-warranted ROP (TW-ROP) and adverse anatomical events.During the 6 years, 1216 total eyes were screened during 2169 examinations, generating 26 970 retinal images, an average of 3.56 examinations and 44.28 images per patient. Twenty-two (3.6%) of the infants screened met criteria for TW-ROP. Compared with bedside binocular ophthalmoscopy, remote interpretation of RetCam II/III images had a sensitivity of 100%, specificity of 99.8%, positive predicative value of 95.5%, and negative predicative value of 100% for the detection of TW-ROP. No adverse anatomical outcomes were observed for any enrolled patient.The 6-year results for the SUNDROP telemedicine initiative were highly favourable with respect to diagnostic accuracy. Telemedicine appears to be a safe, reliable, and cost-effective complement to the efforts of ROP specialists, capable of increasing patient access to screening and focusing the resources of the current ophthalmic community on infants with potentially vision-threatening disease.
View details for DOI 10.1016/j.jcjo.2014.11.005
View details for Web of Science ID 000355555300008
View details for PubMedID 25863848
Pulmonary hypertensive crisis following ethanol sclerotherapy for a complex vascular malformation
JOURNAL OF PERINATOLOGY
2014; 34 (9): 713-715
A 16-month-old previously healthy boy was admitted to the hospital with respiratory distress and thrombocytopenia. Initial workup demonstrated large pleural and pericardial effusions. The patient had no cutaneous abnormality on physical examination, and his initial chest CT (computed tomography) was nondiagnostic. He required multiple platelet transfusions, chest tube placement, and pericardiocentesis. Sixteen days after admission, a chest MRI (magnetic resonance imaging) revealed a large infiltrative mass of the superior mediastinum, consistent with kaposiform hemangioendothelioma (KHE). The patient's thrombocytopenia was due to associated Kasabach-Merritt phenomenon (KMP). The patient now has complete resolution of KMP after medical treatment with prednisolone, aminocaproic acid, vincristine, and aspirin.
View details for DOI 10.3109/08880018.2013.825356
View details for Web of Science ID 000340894200009
View details for PubMedID 24047193
Stanford University Network for Diagnosis of Retinopathy of Prematurity (SUNDROP): Five Years of Screening With Telemedicine
OPHTHALMIC SURGERY LASERS & IMAGING
2014; 45 (2): 106-113
Stanford University Network for Diagnosis of Retinopathy of Prematurity (SUNDROP): five years of screening with telemedicine.
Ophthalmic surgery, lasers & imaging retina
2014; 45 (2): 106-113
Anhydrous ethanol is a commonly used sclerotic agent for treating vascular malformations. We describe the case of a full-term 15-day-old female with a complex venolymphatic malformation involving the face and orbit. During treatment of the lesion with ethanol sclerotherapy, she suffered acute pulmonary hypertensive crisis. We discuss the pathophysiology of pulmonary hypertension related to ethanol sclerotherapy, and propose that hemolysis plays a significant role. Recommendations for evaluation, monitoring and management of this complication are also discussed.
View details for DOI 10.1038/jp.2014.88
View details for Web of Science ID 000341403600014
View details for PubMedID 25179381
Jaundice and Kernicterus in the Moderately Preterm Infant
CLINICS IN PERINATOLOGY
2013; 40 (4): 679-?
Jaundice and kernicterus in the moderately preterm infant.
Clinics in perinatology
2013; 40 (4): 679-688
To report the 5-year results of the Stanford University Network for Diagnosis of Retinopathy of Prematurity (SUNDROP) telemedicine initiative.Infants requiring retinopathy of prematurity (ROP) screening at six neonatal intensive care units from December 1, 2005, to November 30, 2010, were evaluated with remote retinal photography by an ROP specialist. Every infant received outpatient binocular indirect ophthalmoscope examinations until termination criteria were achieved or until treatment. Outcomes were treatment-warranted ROP (TW-ROP, ETROP type 1) and adverse anatomical events.Five hundred eleven infants (1,022 eyes) were screened. Fifteen infants had TW-ROP and underwent laser photocoagulation. The TW-ROP cohort had significantly lower birth weight and gestational age (both P < .001). No patient progressed to adverse anatomical outcomes and no case of TW-ROP was missed. Tele-medicine had 100% sensitivity, 99.8% specificity, 93.8% positive predictive value, and 100% negative predictive value for detection of TW-ROP.Telemedicine demonstrates high diagnostic accuracy for detection of TW-ROP and can complement ROP screening. [Ophthalmic Surg Lasers Imaging Retina. 2014;45:106-113.].
View details for DOI 10.3928/23258160-20140122-01
View details for PubMedID 24444469
Periconceptional nutrient intakes and risks of orofacial clefts in California
2013; 74 (4): 457-465
Moderate preterm infants remain at increased risk for adverse outcomes, including acute bilirubin encephalopathy (ABE). Evidence-based guidelines for management of hyperbilirubinemia in preterm infants less than 35 weeks' gestational age are not yet optimized. High concentrations of unconjugated bilirubin can cause permanent posticteric neurologic sequelae (kernicterus). Clinical manifestations of ABE in preterm infants are similar to, but often more subtle than, those of term infants. This review outlines clinical strategies to operationalize management of hyperbilirubinemia in moderately preterm infants to meet recently published consensus-based recommendations.
View details for DOI 10.1016/j.clp.2013.07.007
View details for PubMedID 24182955
Fever Literacy and Fever Phobia
2013; 52 (3): 254-259
Background:Evidence indicates that maternal nutrient intake may play a role in the development of birth defects. We investigated the association of maternal periconceptional intake of vitamin supplements and dietary nutrients with risk of developing cleft palate (CP) and cleft lip with or without cleft palate (CLP).Methods:Data were from a population-based, case-control study of fetuses and liveborn infants delivered in California,1999-2003. Analyses included 170 cases with CP, 425 with CLP, and 534 nonmalformed controls. Dietary intake was estimated from a food frequency questionnaire.Results:Vitamin supplement intake was associated with a modestly decreased risk of clefts, but the confidence intervals include one. Among women who did not use vitamin supplements, dietary intake of several micronutrients was associated with risk of clefts. We found at least a two-fold elevated risk of CP with low intake of riboflavin, magnesium, calcium, vitamin B12, and zinc; all CIs excluded 1.0. For CLP, we found at least a two-fold elevated risk with low intake of niacin, riboflavin, vitamin B12, and calcium, and a decreased risk with high intake of folate and cryptoxanthin; all CIs excluded 1.0.Conclusion:Results suggest that periconceptional nutrient intake may be associated with risk of CP and CLP.Pediatric Research (2013); doi:10.1038/pr.2013.115.
View details for DOI 10.1038/pr.2013.115
View details for Web of Science ID 000326060000015
Stanford University Network for Diagnosis of Retinopathy of Prematurity (SUNDROP): Four-years of Screening with Telemedicine
CURRENT EYE RESEARCH
2013; 38 (2): 283-291
To identify the percentage of parents who define the threshold for fever between 38.0°C and 38.3°C, which has not been reported previously, and to describe parental attitudes toward fever and antipyretic use.Thirteen-question survey study of caregivers.Overall, 81% of participants defined the threshold for fever as <38.0°C, 0% correctly defined fever between 38.0°C and 38.3°C, and 19% defined fever as >38.3°C. Twenty percent of children brought to clinic for a chief complaint of fever were never truly febrile. Ninety-three percent of participants believed that high fever can cause brain damage. For a comfortable-appearing child with fever, 89% of caregivers reported that they would give antipyretics and 86% would schedule a clinic visit.Our finding that 0% of parents correctly defined fever is both surprising and unsettling, and it should inform future discussions of fever between parents and clinicians.
View details for DOI 10.1177/0009922812472252
View details for Web of Science ID 000317849900007
To report the four-year experience of the Stanford University Network for Diagnosis of Retinopathy of Prematurity (SUNDROP) telemedicine initiative, which was developed to reduce the risk of blindness from retinopathy of prematurity (ROP).A retrospective analysis of the SUNDROP archival data between 12/1/2005 and 11/30/2009. A total of 410 consecutively enrolled infants meeting ROP screening criteria had nurse-obtained fundoscopic images evaluated remotely by an ROP specialist. Every infant then received at least one dilated bedside binocular indirect ophthalmoscope (BIO) examination within one week of discharge. All infants were then followed with both telemedicine images and bedside evaluation in clinic according to recommended screening timelines. Primary outcomes were treatment-warranted ROP (TW-ROP), defined as Early Treatment of ROP Type 1, and adverse anatomical outcomes.The SUNDROP telemedicine screening initiative has not missed any TW-ROP in its four-year evaluation period. A total of 410 infants (820 eyes) were imaged, resulting in 1486 examinations and 18,097 unique images. An average of 12.2 images were obtained per patient. Fourteen infants met TW-ROP criteria on telemedicine examination. After bedside evaluation, 13 infants required laser photocoagulation and one was followed until he spontaneously regressed. Infants with TW-ROP had a significantly lower gestational age (24.9 weeks), birth weight (658.7 grams), and were more likely to be male than the no TW-ROP cohort (all p values <0.00001). Telemedicine had a calculated sensitivity of 100%, specificity of 99.8%, positive predicative value of 92.9% and negative predictive value of 100% for the detection of TW-ROP. No patient progressed to retinal detachment or any adverse anatomical outcome.The SUNDROP initiative demonstrated a high degree of diagnostic reliability and was able to capture all infants with TW-ROP. Telemedicine offers a cost-effective, reliable and accurate screening methodology for identifying infants with TW-ROP without sacrificing quality of care.
View details for DOI 10.3109/02713683.2012.754902
View details for Web of Science ID 000314900400008
View details for PubMedID 23330739