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Neonatal hyperbilirubinemia

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https://www.readbyqxmd.com/read/28213806/clinical-ugt1a1-genetic-analysis-in-pediatric-patients-experience-of-a-reference-laboratory
#1
Ann M Moyer, Jennifer M Skierka, Katrina E Kotzer, Michelle L Kluge, John L Black, Linnea M Baudhuin
BACKGROUND: Neonatal hyperbilirubinemia can be severe or prolonged and warrant exploration into the underlying etiology, which may include genetic assessment of UGT1A1 for inherited disorders (i.e. Crigler-Najjar syndrome or Gilbert syndrome). METHODS: In our reference laboratory, we performed UGT1A1 gene sequencing analysis on 346 pediatric patients referred for a clinical indication of hyperbilirubinemia. RESULTS: Males (n = 241) had significantly higher mean total bilirubin concentration compared to females (n = 105) (9...
February 17, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28206992/heme-oxygenase-1-promoter-polymorphisms-do-they-modulate-neonatal-hyperbilirubinemia
#2
M Kaplan, R J Wong, D K Stevenson
The role of genetic factors in the modulation of serum bilirubin levels and the pathophysiology of neonatal hyperbilirubinemia is being increasingly recognized. Heme oxygenase-1 (HO-1) is the rate-limiting enzyme by which heme is catabolized to biliverdin and thence to bilirubin, with the simultaneous release of equimolar quantities of ferrous iron (Fe(3+)) and carbon monoxide. Polymorphisms of the HO-1 gene promoter may modulate transcriptional activity, thereby augmenting or attenuating HO-1 expression with resultant modulation of the production of bilirubin...
February 16, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28206723/clinical-study-on-amplitude-integrated-electroencephalogram-in-cerebral-injury-caused-by-severe-neonatal-hyperbilirubinemia
#3
Hongwei Wu, Zhenguang Li, Jinfeng Liu, Gang Liu, Xia Yang
BACKGROUND: This study was designed in order to assess the validity of the use of amplitude-integrated electroencephalogram (aEEG) in cerebral injury caused by severe neonatal hyperbilirubinemia. METHODS: A total of 56 full-term neonates diagnosed with severe neonatal hyperbilirubinemia and admitted to the NICU of our hospital from July 2013 to December 2014 were continuously selected for the study. The total serum bilirubin (TSB) was higher than 342 μmo/l, and was dominated by a higher amount of unconjugated bilirubin...
February 15, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28202110/-neurodevelopmental-features-of-preterm-infants-at-the-corrected-age-of-1-year
#4
Mei Zhang, Hong-Yan Qian, Xiao-Ni Kuang, Zhong Yu, Lin Tan, Chan Xia
OBJECTIVE: To investigate the neurodevelopmental level of preterm infants at the corrected age of 1 year and the effect of complications on neurodevelopment. METHODS: The clinical data and follow-up data of hospitalized preterm infants were retrospectively studied. The Bayley Scales of Infant Development was used to assess the neurodevelopmental level. Preterm infants were divided into groups according to gestational age, birth weight, and the presence or absence of complications...
February 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28192492/transcutaneous-bilirubin-nomograms-in-african-neonates
#5
Bolajoko O Olusanya, Cecilia A Mabogunje, Donald O Imosemi, Abieyuwa A Emokpae
BACKGROUND: The use of transcutaneous bilirubin (TcB) as a screening tool, based on relevant population-specific nomogram, or proxy for total serum bilirubin (TSB) levels in assessing the risk of subsequent hyperbilirubinemia is supported by several clinical guidelines on the management of neonatal hyperbilirubinemia. However, while TcB has been found to significantly over-estimate TSB in neonates of African-American ancestry, with variations across TcB devices, no nomogram has been specifically reported for this racial group...
2017: PloS One
https://www.readbyqxmd.com/read/28167773/intestinal-ncor1-a-regulator-of-epithelial-cell-maturation-controls-neonatal-hyperbilirubinemia
#6
Shujuan Chen, Wenqi Lu, Mei-Fei Yueh, Eva Rettenmeier, Miao Liu, Johan Auwerx, Ruth T Yu, Ronald M Evans, Kepeng Wang, Michael Karin, Robert H Tukey
Severe neonatal hyperbilirubinemia (SNH) and the onset of bilirubin encephalopathy and kernicterus result in part from delayed expression of UDP-glucuronosyltransferase 1A1 (UGT1A1) and the inability to metabolize bilirubin. Although there is a good understanding of the early events after birth that lead to the rapid increase in serum bilirubin, the events that control delayed expression of UGT1A1 during development remain a mystery. Humanized UGT1 (hUGT1) mice develop SNH spontaneously, which is linked to repression of both liver and intestinal UGT1A1...
February 6, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28139952/the-correlation-between-frequency-and-duration-of-breastfeeding-and-the-severity-of-neonatal-hyperbilirubinemia
#7
Hassan Boskabadi, Maryam Zakerihamidi
Introduction inadequate intake of calorie or inadequate breastfeeding can cause neonatal hyperbilirubinemia. The present study was conducted to examine the correlation between frequency and duration of breastfeeding and the severity of neonatal hyperbilirubinemia amongnewborns admitted toGhaem Hospital of Mashhad (Iran) due to neonatal hyperbilirubinemia. Methodology the present cross-sectional study was conducted on 634 newborns with idiopathic hyperbilirubinemia referred to either Emergency Department or Neonatal Clinic in Ghaem Hospital...
January 31, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28117009/update-on-predicting-severe-hyperbilirubinemia-and-bilirubin-neurotoxicity-risks-in-neonates
#8
Pearl W Chang, Thomas B Newman, M Jeffrey Maisels
Extreme hyperbilirubinemia and kernicterus, though rare, continue to occur despite the adoption of universal screening. Unless they are known to have glucose-6-phosphate dehydrogenase deficiency, infants who currently develop kernicterus in high resource countries are often otherwise healthy newborns discharged from the well-baby nursery. In this review, we highlight risk factors that increase the risk of a newborn ≥35 weeks gestational age developing severe hyperbilirubinemia, as well as the risk factors that increase the hyperbilirubinemic infant's risk of kernicterus...
January 23, 2017: Current Pediatric Reviews
https://www.readbyqxmd.com/read/28109243/neonatal-hyperbilirubinemia-in-a-marginalized-population-on-the-thai-myanmar-border-a-study-protocol
#9
Laurence Thielemans, Margreet Trip-Hoving, Germana Bancone, Claudia Turner, Julie A Simpson, Borimas Hanboonkunupakarn, Michaël Boele van Hensbroek, Patrick van Rheenen, Moo Kho Paw, François Nosten, Rose McGready, Verena I Carrara
BACKGROUND: This study aims to identify risk factors and the neurodevelopmental impact of neonatal hyperbilirubinemia in a limited-resource setting among a refugee and migrant population residing along the Thai-Myanmar border, an area with a high prevalence of glucose-6-phosphate dehydrogenase-deficiency. METHODS: This is an analytic, observational, prospective birth cohort study including all infants of estimated gestational age equal to or greater than 28 weeks from mothers who followed antenatal care in the Shoklo Malaria Research Unit clinics...
January 21, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28102362/evaluation-of-region-selective-bilirubin-induced-brain-damage-as-a-basis-for-a-pharmacological-treatment
#10
Matteo Dal Ben, Cristina Bottin, Fabrizio Zanconati, Claudio Tiribelli, Silvia Gazzin
The neurologic manifestations of neonatal hyperbilirubinemia in the central nervous system (CNS) exhibit high variations in the severity and appearance of motor, auditory and cognitive symptoms, which is suggestive of a still unexplained selective topography of bilirubin-induced damage. By applying the organotypic brain culture (OBC: preserving in vitro the cellular complexity, connection and architecture of the in vivo brain) technique to study hyperbilirubinemia, we mapped the regional target of bilirubin-induced damage, demonstrated a multifactorial toxic action of bilirubin, and used this information to evaluate the efficacy of drugs applicable to newborns to protect the brain...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28099134/carboxyhemoglobin-the-forgotten-parameter-of-neonatal-hyperbilirubinemia
#11
Douggl G N Bailey, Hans Fuchs, Roland Hentschel
BACKGROUND: Neonatal hyperbilirubinemia is influenced by a wide variety of factors, one of which is hemolysis. Serious hyperbilirubinemia may lead to a kernicterus with detrimental neurologic sequelae. Patients suffering from hemolytic disease have a higher risk of developing kernicterus. Carbon monoxide (CO), a byproduct of hemolysis or heme degradation, was described by Sjöstrand in the 1960s. It is transported as carboxyhemoglobin (COHb) and exhaled through the lungs. We were interested in a potential correlation between COHb and total serum bilirubin (TSB) and the time course of both parameters...
January 18, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28094087/-management-of-jaundice-in-the-newborn%C3%A2-35%C3%A2-gw-from-screening-to-follow-up-after-discharge-guidelines-for-clinical-practice
#12
A Cortey, L Renesme, J Raignoux, A Bedu, C Casper, P Tourneux, P Truffert
Jaundice due to unconjugated bilirubin is an everyday condition in the neonatal period because it results from the adaptation of bilirubin metabolism at this time of life. Hyperbilirubinemia has a potential neurotoxicity and although it most often resolves spontaneously, it can lead to acute and sometimes chronic encephalopathy. The latter condition is called kernicterus and induces severe and irreversible neurological sequelae. This rare complication is still reported in all countries throughout the world even if severe hyperbilirubinemia can be prevented and critical points points of failure in jaundice management are identified...
February 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28093008/hearing-loss-associated-gene-detection-in-neonatal-intensive-care-unit
#13
S M Yang, Ying Liu, C Liu, A H Yin, Y F Wu, X E Zheng, H M Yang, J Yang
OBJECTIVE: To investigate the frequency and mutation spectrum of hearing loss associated gene mutation in Neonatal Intensive Care Unit (NICU). METHODS: Neonates (n = 2305) admitted to NICU were enrolled in this study. Nine prominent hearing loss associated genes, GJB2 (35 del G, 176 del 16,235 del C, 299 del AT), GJB3 (538 C > T), SLC26A4 (IVS7-2A > G, 2168 A > G) and mtDNA 12S rRNA(1555 A > G, 1494 C > T), were detected. RESULT: There were 73 cases hearing-loss-associated gene mutation among 2305 cases, the mutation frequency was 3...
January 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28090778/three-novel-spectrin-variants-in-jaundiced-neonates
#14
Robert D Christensen, Archana M Agarwal, Hassan M Yaish, N Scott Reading, Elizabeth A O'Brien, Josef T Prchal
Various mutations in the genes encoding alpha spectrin (SPTA1) or beta spectrin (SPTB) are known to cause erythrocyte membrane disorders, sometimes associated with severe neonatal jaundice and anemia. We used a next-generation sequencing panel to evaluate 3 unrelated neonates who had puzzling cases of nonimmune hemolytic jaundice. In each case, we identified novel mutations in either SPTA1 or SPTB. Correlating erythrocyte morphology, clinical course, and computational analysis, we submit that each of the 3 variants is a probable pathogenic cause of the hereditary hemolytic conditions in these patients...
January 1, 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/28076300/usefulness-of-maternal-red-cell-antibodies-to-predict-hemolytic-disease-of-the-fetus-and-newborn-and-significant-neonatal-hyperbilirubinemia-a-retrospective-study
#15
Bart Peeters, Inge Geerts, Anne-Mie Badts, Veroniek Saegeman, Jan Moerman
No abstract text is available yet for this article.
January 11, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28073104/use-of-transcutaneous-bilirubin-to-determine-the-need-for-phototherapy-in-resource-limited-settings
#16
Bolajoko O Olusanya, Abieyuwa A Emokpae
BACKGROUND: Routine and timely determination of total serum bilirubin (TSB) remains a challenge in many resource-limited countries with substantial burden of severe neonatal hyperbilirubinemia. Limited evidence exists on the potential usefulness of transcutaneous bilirubin (TcB) to identify infants who may require phototherapy based on possible treatment criteria in such settings. OBJECTIVE: To compare the number of infants requiring phototherapy across different TSB criteria and determine the predictive performance of TcB under each criterion...
January 11, 2017: Neonatology
https://www.readbyqxmd.com/read/28072860/hyperbilirubinemia-influences-sleep-wake-cycles-of-term-newborns-in-a-non-linear-manner
#17
Lian Zhang, Yanxia Zhou, Xufang Li, Tingting Cheng
Hyperbilirubinemia is a common cause for irreversible neuronal influence in the brain of term newborns, while the feature of neurological symptoms associated with hyperbilirubinemia has not been well characterized yet. In the present study, we examined a total of 203 neonates suffering from hyperbilirubinemia with a bedside amplitude-integrated Electroencephalography (aEEG) device, in order to determine whether there is any special change in sleep-wake cycles (SWCs). Among these patients, 14 cases showed no recognizable SWCs with the total serum bilirubin (TSB) level at 483...
2017: PloS One
https://www.readbyqxmd.com/read/28071585/newborn-bilirubin-screening-for-preventing-severe-hyperbilirubinemia-and-bilirubin-encephalopathy-a-rapid-review
#18
Kalpana Bhardwaj, Tiffany Locke, Anne Biringer, Allyson Booth, Elizabeth Kathleen Darling, Shelley Dougan, Jane Harrison, Stephen Hill, Ana Johnson, Susan Makin, Beth Potter, Thierry Lacaze-Masmonteil, Julian Little
: hyperbilirubinemia [2], every newborn should be assessed for the risk of developing severe hyperbilirubinemia with the help of predischarge total serum bilirubin or transcutaneous bilirubin measurements and/or assessments of clinical risk factors. The aim of this rapid review is 1) to review the evidence for 1) predicting and preventing severe hyperbilirubinemia and bilirubin encephalopathy, 2) determining the efficacy of home/community treatments (home phototherapy) in the prevention of severe hyperbilirubinemia, and 3) non-invasive/transcutaneous methods for estimating serum bilirubin level...
January 10, 2017: Current Pediatric Reviews
https://www.readbyqxmd.com/read/28069791/prolonged-indirect-hyperbilirubinemia-in-a-moderately-preterm-boy-with-mediterranean-glucose-6-phosphate-dehydrogenase-and-glutathione-s-transferase-mu-1-null-mutations
#19
Sameer Yaseen Al-Abdi
A 33-week gestation boy with Mediterranean glucose-6-phosphate dehydrogenase (G6PD) and a glutathione S-transferase Mu 1 null mutations (GSTM1*0/*0) developed prolonged indirect hyperbilirubinemia (PIH). He had no laboratory evidence of haemolysis or infection, and no exposure to oxidising agents. He has two full-term older brothers who have no history of neonatal hyperbilirubinemia. One brother, who was exclusively breast fed, has only Mediterranean G6PD and the other has only GSTM1*0/*0. The three boys have no mutation in the uridine diphosphate glucuronosyltransferase 1A1 gene...
January 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28051047/evaluation-of-the-use-of-laparoscopic-guided-cholecystocholangiography-and-liver-biopsy-in-definitive-diagnosis-of-neonatal-cholestatic-jaundice
#20
Khalid Shreef, Abdullah Alhelal
BACKGROUND: Once it is established that a jaundiced infant has direct hyperbilirubinemia, the principal diagnostic concern is to differentiate hepatocellular from obstructive cholestasis. Traditional tests such as ultrasonography, percutaneous liver biopsy and technetium 99 m hepatobiliary iminodiacetic acid (HIDA) scan are often not sufficiently discriminating. Definitive exclusion of biliary atresia (BA) in the infant with cholestatic jaundice usually requires mini-laparotomy and intra-operative cholangiography...
October 2016: African Journal of Paediatric Surgery: AJPS
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