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https://www.readbyqxmd.com/read/29053863/a-case-of-a-newborn-with-blocked-rhd-antigen-and-hdfn
#1
Haijuan Wang, Jian Chen, Yongmei Jiang
A group O RhD-negative pregnant patient with anti-D antibody at titer 1:2048 delivered a baby boy by cesarean section at 38 + 6 weeks gestational age. The neonate typed as group O, but D antigen was at first uncertain. DAT and antibody screen of newborn were both positive. Various assays were used for D antigen determination. Ultimately, D antigen blocked by high-titer maternal anti-D antibody was confirmed. Total bilirubin of the newborn was 52.7 umol/L, and hemoglobin was 1.46 mg/dL. O RhD-negative red cells were used for an exchange transfusion...
October 19, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/29053735/characterization-of-the-first-knock-out-aldh7a1-zebrafish-model-for-pyridoxine-dependent-epilepsy-using-crispr-cas9-technology
#2
Nikita Zabinyakov, Garrett Bullivant, Feng Cao, Matilde Fernandez Ojeda, Zheng Ping Jia, Xiao-Yan Wen, James J Dowling, Gajja S Salomons, Saadet Mercimek-Andrews
Pyridoxine dependent epilepsy (PDE) is caused by likely pathogenic variants in ALDH7A1 (PDE-ALDH7A1) and inherited autosomal recessively. Neurotoxic alpha-amino adipic semialdehyde (alpha-AASA), piperideine 6-carboxylate and pipecolic acid accumulate in body fluids. Neonatal or infantile onset seizures refractory to anti-epileptic medications are clinical features. Treatment with pyridoxine, arginine and lysine-restricted diet does not normalize neurodevelopmental outcome or accumulation of neurotoxic metabolites...
2017: PloS One
https://www.readbyqxmd.com/read/29048133/vasa-previa-prenatal-diagnosis-and-outcomes-thirty-five-cases-from-a-single-maternal-fetal-medicine-practice
#3
Ankita Kulkarni, Jennifer Powel, Michael Aziz, Leena Shah, Susan Lashley, Carlos Benito, Yinka Oyelese
OBJECTIVES: To assess the accuracy and effectiveness of routine screening for vasa previa, to describe our experience, and to assess factors that contribute to missed cases of vasa previa. METHODS: A retrospective descriptive study of all cases of vasa previa from a single maternal-fetal medicine service between 2009 and 2017 was performed. Ultrasound findings and obstetric and neonatal outcomes were reviewed and analyzed. RESULTS: Thirty-five cases of vasa previa were identified...
October 19, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29045255/listening-to-relaxing-music-improves-physiological-responses-in-premature-infants-a-randomized-controlled-trial
#4
Rafael A Caparros-Gonzalez, Alejandro de la Torre-Luque, Carolina Diaz-Piedra, Francisco J Vico, Gualberto Buela-Casal
BACKGROUND: Premature infants are exposed to high levels of noise in the neonatal intensive care unit (NICU). PURPOSE: This study evaluated the effect of a relaxing music therapy intervention composed by artificial intelligence on respiratory rate, systolic and diastolic blood pressure, and heart rate. METHODS: A double-blind, randomized, controlled trial was conducted in the NICUs of 2 general public hospitals in Andalusia, Spain. Participants were 17 healthy premature infants, randomly allocated to the intervention group or the control group (silence) at a 1:1 ratio...
October 17, 2017: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
https://www.readbyqxmd.com/read/29045045/mesenchymal-stromal-cell-therapy-in-bronchopulmonary-dysplasia-systematic-review-and-meta-analysis-of-preclinical-studies
#5
Sajit Augustine, Marc T Avey, Brittany Harrison, Tiffany Locke, Mona Ghannad, David Moher, Bernard Thébaud
Extreme prematurity is the leading cause of death among children under 5 years of age. Currently, there is no treatment for bronchopulmonary dysplasia (BPD), the most common complication of extreme prematurity. Experimental studies in animal models of BPD suggest that mesenchymal stromal cells (MSCs) are lung protective. To date, no systematic review and meta-analysis has evaluated the preclinical evidence of this promising therapy. Our protocol was registered with Collaborative Approach to Meta-Analysis and Review of Animal Data from Experimental Studies prior to searching MEDLINE (1946 to June 1, 2015), Embase (1947 to 2015 Week 22), Pubmed, Web of Science, and conference proceedings (1990 to present) for controlled comparative studies of neonatal animal models that received MSCs or cell free MSC-derived conditioned media (MSC-CM)...
October 17, 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/29039165/-screening-for-fatty-acid-oxidation-disorders-of-newborns-in-zhejiang-province-prevalence-outcome-and-follow-up
#6
Jing Zheng, Yu Zhang, Fang Hong, Jianbin Yang, Fan Tong, Huaqing Mao, Xiaolei Huang, Xuelian Zhou, Rulai Yang, Zhengyan Zhao, Xinwen Huang
OBJECTIVE: To screen fatty acid oxidation disorders (FAOD) in newborns in Zhejiang province. METHODS: A total of 1 861 262 newborns were screened for FAOD in Neonatal Screening Center of Zhejiang Province during January 2009 and December 2016. The blood samples from newborns were screened by tandem mass spectrometry, and diagnosis of FAOD was confirmed by urine organic acid measurement combined with genetic analysis. The prognosis and follow-up of patients with FAOD were also evaluated...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29039164/-screening-for-newborn-organic-aciduria-in-zhejiang-province-prevalence-outcome-and-follow-up
#7
Fang Hong, Xinwen Huang, Yu Zhang, Jianbin Yang, Fan Tong, Huaqing Mao, Xiaolei Huang, Xuelian Zhou, Rulai Yang, Zhengyan Zhao
OBJECTIVE: To analyze the results and follow up data of screening for newborn organic aciduria in Zhejiang province. METHODS: The results and follow-up data of 1 861 262 newborns from Zhejiang province undergoing screening for organic aciduria during January 2009 and December 2016 were retrospectively analyzed. The acylcarnitine spectrum in urine samples was detected by tandem mass spectrum (MS/MS) and the positive patients were confirmed by urine gas chromatography mass spectrometry and/or gene analysis...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29039163/-screening-for-amino-acid-metabolic-disorders-of-newborns-in-zhejiang-province-prevalence-outcome-and-follow-up
#8
Xinwen Huang, Yu Zhang, Fang Hong, Jing Zheng, Jianbin Yang, Fan Tong, Huaqing Mao, Xiaolei Huang, Xuelian Zhou, Rulai Yang, Zhengyan Zhao
OBJECTIVE: To analyze the result and follow-up data of screening for newborn amino acid metabolic disorders in Zhejiang province. METHODS: A total of 1 861 262 newborns were screened for amino acid metabolic disorders during January 2009 and December 2016 in Zhejiang province. The screening results and the follow-up data were analyzed retrospectively. RESULTS: One hundred and sixty four cases were diagnosed as amino acid metabolic disorders with a prevalence of 1:11 349, including 83 with hyperphenylalaninaemia (1:22 400), 29 with neonatal intrahepatic cholestasis caused by citrin deficiency (1:64 138), 16 with methionine S-adenosyltransferase deficiency (1:116 250), 9 with maple syrup urine disease (1:206 667), 8 with argininemia (1:232 500), 7 with citrullinemia type Ⅰ (1:265 700), 6 with hyperprolinemia type Ⅰ (1:310 000), and 2 with carbamylphosphate synthetase Ⅰ deficiency(1:930 000)...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29037552/the-impact-of-prenatal-group-b-streptococcus-screening-as-a-national-health-policy-in-taiwan
#9
Fung-Wei Chang, Chun-I Lee, Hueng-Chuen Fan, Her-Young Su, Yung-Liang Liu, Cheng-Yu Chen
OBJECTIVE: There was no national data on group B streptococcus (GBS) infections in Taiwan. Until 2012, when prenatal GBS screening was introduced to obstetric practices as a national health policy aimed at reducing neonatal GBS infections. The purpose of this study was to examine the impact of this national health policy on the incidence of maternal GBS colonization and neonatal GBS infection rate. Relatedly, the clinical characteristics of neonatal GBS infection were investigated to determine the correlations between the incidence of maternal GBS colonization and the neonatal GBS infection rate...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29037091/an-anthropometric-survey-of-u-s-preterm-and-full-term-neonates
#10
Susan M Abdel-Rahman, Ian M Paul, Paula Delmore, Laura James, Laura Fearn, Andrew M Atz, Brenda B Poindexter, Amira Al-Uzri, Andrew Lewandowski, Barrie L Harper, P Brian Smith
BACKGROUND: Anthropometric data prove valuable for screening and monitoring various medical conditions. In young infants, however, only weight, length and head circumference are represented in publically accessible databases. AIM: To characterise length and circumferential measures in preterm and full-term infants up to 90 days postnatal age. SUBJECTS AND METHODS: In eight U.S. medical centres, trained raters recorded humeral, ulnar, femoral, tibial, and fibular lengths along with mid-upper arm, mid-thigh, chest, abdominal, and neck circumference...
October 16, 2017: Annals of Human Biology
https://www.readbyqxmd.com/read/29034653/successful-delivery-in-a-woman-with-achondroplasia-a-case-report
#11
Mahbooheh Shirazi, Fateme Golshahi, Nastaran Teimoory
Achondroplasia is an autosomal dominant disease which is characterized by limb shortening and narrow trunk, and macrocephaly. Women with achondroplasia suffer from infertility, menorrhagia, dysmenorrhoea, leiomyomata and early menopause. Our case was a 26-year-old woman with achondroplasia who had scoliosis and osteoporosis. She referred to our clinic at 9 weeks of gestation and had all screenings completely. She had a single female fetus with no abnormalities. She had an emergent due to rupture of membranes at 37 weeks and 3 days under general anesthesia...
August 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/29034155/a-mobile-team-for-screening-of-retinopathy-of-prematurity-in-india-cost-effectiveness-outcomes-and-impact-assessment
#12
Jai Kelkar, Aditya Kelkar, Shubhangi Sharma, Jaya Dewani
PURPOSE: To study the cost effectiveness, outcomes and impact of retinopathy of prematurity (ROP) screening and management model for urban neonatal intensive care units (NICUs). STUDY DESIGN: Public health intervention study. METHODS: This study was conducted in 2013. Staff of a mobile unit assessed all infants aged less than 34 weeks of Gestation age at birth and/or birth weight 1700 GM or less admitted in five NICUs between 2013 and 2015...
July 2017: Taiwan Journal of Ophthalmology
https://www.readbyqxmd.com/read/29030871/fetal-neonatal-alloimmune-thrombocytopenia-due-to-anti-cd36-antibodies-antibody-evaluations-by-cd36-transfected-cell-lines
#13
Marie Lin, Xiuzhang Xu, Hui-Lin Lee, Der-Cheng Liang, Sentot Santoso
BACKGROUND: Isoantibodies against CD36 (platelet glycoprotein 4), developed in Type I CD36-deficient mothers are frequently reported as the cause of fetal/neonatal alloimmune thrombocytopenia in the Asian population. Therefore, further detailed characterization of anti-CD36-mediated fetal/neonatal alloimmune thrombocytopenia is warranted. Here, we report the characterization of a patient with fetal/neonatal alloimmune thrombocytopenia in a Taiwanese family caused by anti-CD36 isoantibodies using a novel antigen-capture method...
October 13, 2017: Transfusion
https://www.readbyqxmd.com/read/29028670/cord-blood-bisphenol-a-levels-and-reproductive-and-thyroid-hormone-levels-of-neonates-the-hokkaido-study-on-environment-and-children-s-health
#14
Machiko Minatoya, Seiko Sasaki, Atsuko Araki, Chihiro Miyashita, Sachiko Itoh, Jun Yamamoto, Toru Matsumura, Takahiko Mitsui, Kimihiko Moriya, Kazutoshi Cho, Keita Morioka, Hisanori Minakami, Nobuo Shinohara, Reiko Kishi
BACKGROUND: Bisphenol A (BPA) is widely used and BPA exposure is nearly ubiquitous in developed countries. While animal studies have indicated adverse health effects of prenatal BPA exposure including reproductive dysfunction and thyroid function disruption possibly in a sex-specific manner, findings from epidemiologic studies have not been enough to prove these adverse effects. Given very limited research on human, the aim of this study was to investigate associations between cord blood BPA levels and reproductive and thyroid hormone levels of neonates and whether associations differed by neonate sex...
October 2017: Epidemiology
https://www.readbyqxmd.com/read/29027708/advancing-prenatal-detection-of-congenital-heart-disease-a-novel-screening-protocol-improves-early-diagnosis-of-complex-congenital-heart-disease
#15
Karen M Letourneau, David Horne, Reeni N Soni, Keith R McDonald, Fern C Karlicki, Randy R Fransoo
OBJECTIVES: Prenatal diagnosis of complex congenital heart disease (CHD) during routine obstetric ultrasound (US) examinations improves postnatal outcomes, but sensitivity is low (<40%). Our objective was to improve our prenatal detection of complex CHD with implementation of a specific screening protocol. METHODS: From January 2003 to December 2013, 506 consecutive confirmed cases of complex CHD in the province of Manitoba, Canada, were analyzed to compare the sensitivity and positive predictive value of prenatal US detection of complex CHD before and after the introduction of a novel prenatal screening protocol...
October 13, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29025854/how-to-use%C3%A2-hip-examination-and-ultrasound-in-newborns
#16
Yoshua Colyn Collins-Sawaragi, Kapila Jain
Developmental dysplasia of the hip (DDH) ranges from a clinically detectable dislocation of the hip to radiologically diagnosed hip abnormalities. It is caused by both antenatal and postnatal factors. The Neonatal and Infant Physical Examination Screening Programme recommends that newborns should undergo a hip ultrasound (USS) when risk factor or clinical features suggestive of DDH are present. The aim of hip ultrasonography is to detect DDH early and prevent late complications through early treatment. Here, we discuss how to use hip examination and USS in newborns...
October 12, 2017: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/29021962/first-year-metabolic-control-guidelines-and-their-impact-on-future-metabolic-control-and-neurocognitive-functioning-in-children-with-pku
#17
Alicia de la Parra, María Ignacia García, Valerie Hamilton, Carolina Arias, Juan Francisco Cabello, Verónica Cornejo
There is a consensus on the importance of early and life-long treatment for PKU patients. Still, differences exist on target blood phenylalanine (Phe) concentrations for children with PKU in different countries and treatment centers. For the first time, long-term metabolic control and child development and cognitive functioning is compared between children with mean phenylalanine concentrations under 240 μmol/L (group A), between 240 and 360 μmol/L (group B) or over 360 μmol/L (group C) during their first year of life...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29020906/the-prevalence-of-monogenic-diabetes-in-australia-the-fremantle-diabetes-study-phase-ii
#18
Timothy Me Davis, Ashley E Makepeace, Sian Ellard, Kevin Colclough, Kirsten Peters, Andrew Hattersley, Wendy A Davis
OBJECTIVE: To determine the prevalence of monogenic diabetes in an Australian community. DESIGN: Longitudinal observational study of a cohort recruited between 2008 and 2011. SETTING: Urban population of 157 000 people (Fremantle, Western Australia). PARTICIPANTS: 1668 (of 4639 people with diabetes) who consented to participation (36.0% participation). MAIN OUTCOME MEASURES: Prevalence of maturity-onset diabetes of the young (MODY) and permanent neonatal diabetes in patients under 35 years of age, from European and non-European ethnic backgrounds, who were at risk of MODY according to United Kingdom risk prediction models, and who were then genotyped for relevant mutations...
October 16, 2017: Medical Journal of Australia
https://www.readbyqxmd.com/read/29020813/early-neonatal-hypoglycemia-incidence-of-and-risk-factors-a-cohort-study-using-universal-point-of-care-screening
#19
Ruben Bromiker, Assaf Perry, Yair Kasirer, Sharon Einav, Gil Klinger, Floris Levy-Khademi
OBJECTIVE: To determine the true incidence of early neonatal hypoglycemia and to confirm potential risk factors. STUDY DESIGN: The study was conducted at tertiary Medical Center in Israel, between June and September 2014. First blood glucose concentrations of all infants admitted to the nursery were measured using a "point of care" analyzer (Accu-Chek). We recorded risk factors for hypoglycemia such as birth weight, gestational age, maternal diabetes and demographics and analyzed their Association with two hypoglycemia cutoffs: 40 and 47 mg/dl...
October 11, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29017631/infants-born-with-critical-chd-in-arizona-and-capacities-of-birth-centres-for-screening-and-management
#20
Lydia Villa, Brent Bjornsen, Heather Giacone, Erica M Weidler, Ekta Bajaj, Andrew Muth, Melanie Kennedy, Timothy Flood, Dianna Contreras, Joseph Spadafino, Ashish Shah
OBJECTIVES: The aims of this study were to identify locations of births in Arizona with critical CHD, as well as to assess the current use of pulse-oximetry screening and capacities of birth centres to manage a positive screen. Study design Infants (n=487) with a potentially critical CHD were identified from the Arizona Department of Health Services from 2012 and 2013; charts were retrospectively reviewed. Diagnosis was confirmed using echocardiographies. ArcGIS was used to generate maps to visualise the location of treating facility and mother's residence...
October 11, 2017: Cardiology in the Young
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