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Newborn Screening

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https://www.readbyqxmd.com/read/28749392/evaluation-of-evidence-for-pharmacokinetics-pharmacodynamics-based-dose-optimization-of-antimicrobials-for-treating-gram-negative-infections-in-neonates
#1
REVIEW
Nusrat Shafiq, Samir Malhotra, Vikas Gautam, Harpreet Kaur, Pravin Kumar, Sourabh Dutta, Pallab Ray, Nilima A Kshirsagar
BACKGROUND & OBJECTIVES: Neonates present a special subgroup of population in whom optimization of antimicrobial dosing can be particularly challenging. Gram-negative infections are common in neonates, and inpatient treatment along with critical care is needed for the management of these infections. Dosing recommendations are often extrapolated from evidence generated in older patient populations. This systematic review was done to identify the knowledge gaps in the pharmacokinetics-pharmacodynamics (PK-PD)-based optimized dosing schedule for parenteral antimicrobials for Gram-negative neonatal infections...
March 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28748527/the-prevalence-of-dicer1-pathogenic-variation-in-population-databases
#2
Jung Kim, Amanda Field, Kris Ann P Schultz, D Ashley Hill, Douglas R Stewart
The DICER1 syndrome is associated with a variety of rare benign and malignant tumors, including pleuropulmonary blastoma (PPB), cystic nephroma (CN) and Sertoli-Leydig cell tumor (SLCT). The prevalence and penetrance of pathogenic DICER1 variation in the general population is unknown. We examined three publicly-available germline whole exome sequence datasets: Exome Aggregation Consortium (ExAC), 1000 Genomes (1000G), and the Exome Sequencing Project (ESP). To avoid over-estimation of pathogenic DICER1 variation from cancer-associated exomes, we excluded The Cancer Genome Atlas (TCGA) variants from ExAC...
July 27, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28748224/utility-of-genetic-testing-for-confirmation-of-abnormal-newborn-screening-in-disorders-of-long-chain-fatty-acids-a-missed-case-of-carnitine-palmitoyltransferase-1a-cpt1a-deficiency
#3
Leah Dowsett, Lauren Lulis, Can Ficicioglu, Sanmati Cuddapah
An 18-month-old male was evaluated after presenting with disproportionately elevated liver transaminases in the setting of acute gastroenteritis. He had marked hepatomegaly on physical exam that was later confirmed with an abdominal ultrasound. Given this clinical picture, suspicion for a fatty acid oxidation disorder was raised. Further investigation revealed that his initial newborn screen was positive for carnitine palmitoyltransferase 1A (CPT1A) deficiency-a rare autosomal recessive disorder of long-chain fatty acid oxidation...
June 2017: International Journal of Neonatal Screening
https://www.readbyqxmd.com/read/28747913/family-history-of-early-infant-death-correlates-with-earlier-age-at-diagnosis-but-not-shorter-time-to-diagnosis-for-severe-combined-immunodeficiency
#4
Anderson Dik Wai Luk, Pamela P Lee, Huawei Mao, Koon-Wing Chan, Xiang Yuan Chen, Tong-Xin Chen, Jian Xin He, Nadia Kechout, Deepti Suri, Yin Bo Tao, Yong Bin Xu, Li Ping Jiang, Woei Kang Liew, Orathai Jirapongsananuruk, Tassalapa Daengsuwan, Anju Gupta, Surjit Singh, Amit Rawat, Amir Hamzah Abdul Latiff, Anselm Chi Wai Lee, Lynette P Shek, Thi Van Anh Nguyen, Tek Jee Chin, Yin Hsiu Chien, Zarina Abdul Latiff, Thi Minh Huong Le, Nguyen Ngoc Quynh Le, Bee Wah Lee, Qiang Li, Dinesh Raj, Mohamed-Ridha Barbouche, Meow-Keong Thong, Maria Carmen D Ang, Xiao Chuan Wang, Chen Guang Xu, Hai Guo Yu, Hsin-Hui Yu, Tsz Leung Lee, Felix Yat Sun Yau, Wilfred Hing-Sang Wong, Wenwei Tu, Wangling Yang, Patrick Chun Yin Chong, Marco Hok Kung Ho, Yu Lung Lau
BACKGROUND: Severe combined immunodeficiency (SCID) is fatal unless treated with hematopoietic stem cell transplant. Delay in diagnosis is common without newborn screening. Family history of infant death due to infection or known SCID (FH) has been associated with earlier diagnosis. OBJECTIVE: The aim of this study was to identify the clinical features that affect age at diagnosis (AD) and time to the diagnosis of SCID. METHODS: From 2005 to 2016, 147 SCID patients were referred to the Asian Primary Immunodeficiency Network...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28747839/etiological-evaluation-of-primary-congenital-hypothyroidism-cases
#5
Diğdem Bezen, Emine Dilek, Neşe Torun, Filiz Tütüncüler
AIM: Primary congenital hypothyroidism is frequently seen endocrine disorder and one of the preventable cause of mental retardation. Aim of study was to evaluate the frequency of permanent/transient hypothyrodism, and to detect underlying reason to identfy any marker which carries potential to discriminate permanent/transient form. MATERIAL AND METHODS: Forty eight cases older than 3 years of age, diagnosed as primary congenital hypothyroidism and started thyroxin therapy in newborn-period, and followed up between January 2007-June 2013 were included in the study...
June 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28747690/postmortem-genetic-analysis-of-sudden-unexpected-death-in-infancy-neonatal-genetic-screening-may-enable-the-prevention-of-sudden-infant-death
#6
Yuki Oshima, Takuma Yamamoto, Taisuke Ishikawa, Hiroyuki Mishima, Aya Matsusue, Takahiro Umehara, Takehiko Murase, Yuki Abe, Shin-Ichi Kubo, Koh-Ichiro Yoshiura, Naomasa Makita, Kazuya Ikematsu
Tandem mass screening has recently been started in Japan, but genetic screening has yet to be widely performed in neonates and many unexpected deaths are still being reported. We previously reported two cases of sudden infant death that may have been prevented had newborn screening been performed. In this study, we retrospectively reviewed 71 cases of sudden infant death for 66 arrhythmia- and 63 metabolic disease-related genes to identify how many cases of sudden infant death may have been prevented had mass screening been performed...
July 27, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28747600/severe-combined-immunodeficiency-from-its-discovery-to-the-perspective
#7
Hirokazu Kanegane, Kohsuke Imai, Tomohiro Morio
  Severe combined immunodeficiency (SCID) is impaired in lymphocyte development and function. Affected children have extreme susceptibility to infections, which are fatal in the first year of life without treatment. The estimate of incidence is one in approximately 50,000 live birth. The first series of diseases were described in 1950s, and all patients died in infancy. The first transplant for SCID was carried out in 1968, and it has been described that SCID patients could be treated by hematopoietic stem cell transplantation (HSCT) since then...
2017: Nihon Rinshō Men'eki Gakkai Kaishi, Japanese Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28742401/chikungunya-virus-seroprevalence-and-associated-factors-among-hospital-attendees-in-two-states-of-southwest-nigeria-a-preliminary-assessment
#8
Olayinka M Olajiga, Olajumoke E Adesoye, Adewale P Emilolorun, Abiodun J Adeyemi, Emmanuel O Adeyefa, Ismail A Aderibigbe, Salmot A Adejumo, Wasiu O Adebimpe, Oluyinka O Opaleye, Waidi F Sule, Daniel O Oluwayelu
Chikungunya virus (CHIKV) is a re-emerging pathogen causing long-term polyarthritis and encephalitis. In conducting a preliminary investigation, we hypothesized that there is no serologic evidence of CHIKV infection among attendees of selected hospitals in Lagos and Osun States, Nigeria. Sera from 304 consecutively selected participants were screened for CHIKV IgG and IgM using ELISA. Findings were analyzed vis-à-vis participants' demographic and clinical data. Over 90.0% of the participants had never heard of CHIKV despite the fact that a large proportion of them (88...
July 25, 2017: Immunological Investigations
https://www.readbyqxmd.com/read/28739201/neonatal-detection-of-aicardi-gouti%C3%A3-res-syndrome-by-increased-c26-0-lysophosphatidylcholine-and-interferon-signature-on-newborn-screening-blood-spots
#9
Thais Armangue, Joseph J Orsini, Asako Takanohashi, Francesco Gavazzi, Alex Conant, Nicole Ulrick, Mark A Morrissey, Norah Nahhas, Guy Helman, Heather Gordish-Dressman, Simona Orcesi, Davide Tonduti, Chloe Stutterd, Keith van Haren, Camilo Toro, Alejandro D Iglesias, Marjo S van der Knaap, Raphaela Goldbach Mansky, Anne B Moser, Richard O Jones, Adeline Vanderver
BACKGROUND: Aicardi Goutières Syndrome (AGS) is a heritable interferonopathy associated with systemic autoinflammation causing interferon (IFN) elevation, central nervous system calcifications, leukodystrophy and severe neurologic sequelae. An infant with TREX1 mutations was recently found to have abnormal C26:0 lysophosphatidylcholine (C26:0 Lyso-PC) in a newborn screening platform for X-linked adrenoleukodystrophy, prompting analysis of this analyte in retrospectively collected samples from individuals affected by AGS...
July 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28737759/outcome-of-universal-newborn-eye-screening-with-wide-field-digital-retinal-image-acquisition-system-a-pilot-study
#10
P Goyal, T R Padhi, T Das, L Pradhan, S Sutar, S Butola, U C Behera, L Jain, S Jalali
PurposeTo evaluate the outcome of universal newborn eye screening with wide-field digital retinal imaging (WFDRI) system.MethodsIn this pilot study, we examined 1152 apparently healthy newborn infants in the obstetrics and gynecology ward of a civil hospital in Eastern India over 1.5 years. The examination included external eye examination, red reflex test and fundus imaging by WFDRI (RetCam II, Clarity medical system, Pleasanton, CA, USA) by a trained optometrist. The pathologies detected, net monetary gain and skilled manpower saved were documented...
July 24, 2017: Eye
https://www.readbyqxmd.com/read/28735580/high-protein-goat-s-milk-diet-identified-through-newborn-screening-clinical-warning-of-a-potentially-dangerous-dietetic-practice
#11
Evelina Maines, Giorgia Gugelmo, Elisa Tadiotto, Angelo Pietrobelli, Natascia Campostrini, Andrea Pasini, Florina Ion-Popa, Monica Vincenzi, Francesca Teofoli, Marta Camilot, Andrea Bordugo
OBJECTIVE: Breast-feeding is an unequalled way of providing optimal food for infants' healthy growth and development and the WHO recommends that infants should be exclusively breast-fed for the first 6 months of life. For mothers who are unable to breast-feed or who decide not to, infant formulas are the safest alternative. Despite recommendations, it is possible that parents make potentially harmful nutritional choices for their children because of cultural beliefs or misinformation on infant nutrition...
July 24, 2017: Public Health Nutrition
https://www.readbyqxmd.com/read/28734895/a-sensitive-and-convenient-method-for-clinical-detection-of-non-syndromic-hearing-loss-associated-common-mutations
#12
Er-Feng Yuan, Wei Xia, Jing-Tao Huang, Ling Hu, Xing Liao, Xiang Dai, Song-Mei Liu
BACKGROUND: The majority of non-syndromic hearing loss (NSHL) patients result from causative mutations in GJB2, SLC26A4 and mitochondrial 12S rRNA genes. Accurate detection of these genetic mutations is increasingly recognized for its clinical significance to reduce incidence and guide individual treatment of NSHL. Current methods for clinical practice are labor intensive, expensive or of low sensitivity. METHODS: Genomic DNA from 7 newborns not passing the hearing screening and 94 newborns passing the hearing screening were analyzed for the common mutations using high resolution melting analysis (HRMA) and Sanger sequencing...
July 19, 2017: Gene
https://www.readbyqxmd.com/read/28734160/selective-and-accurate-c5-acylcarnitine-quantitation-by-uhplc-ms-ms-distinguishing-true-isovaleric-acidemia-from-pivalate-derived-interference
#13
Paul E Minkler, Maria S K Stoll, Stephen T Ingalls, Charles L Hoppel
Tandem MS acylcarnitine "profiles" are extremely valuable. Although used appropriately in newborn screening programs to identify patients with possible diseases, their inadequate quantitative accuracy and lack of selectivity is problematic for confirmatory testing. In this report, we show the application of our validated, selective, accurate, precise, and robust UHPLC-MS/MS method for quantitation of acylcarnitines, specifically to C5 acylcarnitines: pivaloyl-, 2-methylbutyryl-, isovaleryl-, and valerylcarnitine...
July 12, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28731912/assessing-infant-and-maternal-readiness-for-newborn-discharge
#14
Ling Jing, Casidhe-Nicole Bethancourt, Thomas McDonagh
PURPOSE OF REVIEW: The review highlights the shift from prescribed length of stay (LOS) to mother-infant dyad readiness as the basis for making discharge decisions for healthy term newborns. We describe the components of readiness that should be considered in making the decision, focusing on infant clinical readiness, and maternal and familial readiness. RECENT FINDINGS: Although the Newborns' and Mothers' Health Protection Act of 1996 aimed to protect infants and mothers by establishing a minimum LOS, the American Academy of Pediatrics 2015 policy on newborn discharge acknowledges the shift from LOS-based to readiness-based discharge decision-making...
July 20, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28731056/universal-newborn-eye-screening-an-effective-strategy-to-improve-ocular-health
#15
EDITORIAL
R I Chee, R V P Chan
No abstract text is available yet for this article.
July 21, 2017: Eye
https://www.readbyqxmd.com/read/28730953/an-update-on-predicting-severe-hyperbilirubinemia-and-bilirubin-neurotoxicity-risks-in-neonates
#16
Tom 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...
July 20, 2017: Current Pediatric Reviews
https://www.readbyqxmd.com/read/28730329/an-evaluation-of-the-addition-of-critical-congenital-heart-defect-screening-in-georgia-newborn-screening-procedures
#17
Shelby T Rentmeester, Johanna Pringle, Carol R Hogue
Objectives Each year in the U.S., approximately 7200 infants are born with a critical congenital heart defect (CCHD). The Georgia Department of Public Health (DPH) mandated routine screening for CCHD starting January 2015. The current study evaluated hospital performance of the mandated CCHD screenings in Georgia. Methods Utilizing the DPH newborn screening surveillance system, data from 6 months before and after the mandate were analyzed for reports submitted and positive CCHD screening results. Chi square tests of independence were performed to examine the association between reporting of results for CCHD screening after the mandate and hospital nursery level [level I (well-baby/newborn); level II (special care); level III (neonatal intensive care unit-NICU)] and NICU submissions...
July 20, 2017: Maternal and Child Health Journal
https://www.readbyqxmd.com/read/28730181/newborn-screening-for-lysosomal-storage-diseases-a-concise-review-of-the-literature-on-screening-methods-therapeutic-possibilities-and-regional-programs
#18
Peter C J I Schielen, Evelien A Kemper, Michael H Gelb
Newborn screening for lysosomal storage diseases (LSDs) is increasingly being considered as an option. The development of analytical screening methods, of second-tier methods, and of therapeutic possibilities, are paving the way for routine screening for LSDs in the coming years. Here, we give a brief description of the current status quo, what screening methods are currently available or are in the pipeline, what is the current status of therapeutic possibilities for LSDs, what LSDs are the most obvious candidates for introduction in screening programs, and what LSDs are already part of regional or national pilot or routine screening programs worldwide...
June 2017: International Journal of Neonatal Screening
https://www.readbyqxmd.com/read/28729746/the-incidence-and-effects-of-alloimmunization-in-pregnancy-during-the-period-2000%C3%A2-%C3%A2-2013
#19
Marjana Jerković Raguž, Darinka Šumanovic Glamuzina, Jerko Brzica, Tonći Gruica
INTRODUCTION: The objective of the analysis was to examine the epidemiological aspects of maternal alloimmunization and to determine the most common antibody specificities resulting in hemolytic disease of the newborn (HDN). MATERIALS AND METHODS: The retrospective epidemiological study encompasses all pregnant women who underwent immunohematological screening and the newborn treated for HDN in the period from 2000 to 2013 in the Herzegovina region. RESULTS: The indirect Coombs test (ICT) detected antibodies against antigens in 384 (2...
July 2017: Geburtshilfe und Frauenheilkunde
https://www.readbyqxmd.com/read/28729230/x-linked-agammaglobulinaemia-outcomes-in-the-modern-era
#20
REVIEW
Ben Shillitoe, Andrew Gennery
Colonel Ogden Bruton reported X-Linked Agammaglobulinaemia in 1952 and treated the child with replacement immunoglobulin therapy. Over 60years later, the treatment for XLA has largely remained unchanged. Replacement immunoglobulin lacks the isotypes IgA and IgM, leading to concerns that patients continue to experience recurrent sinopulmonary tract infections and be at increased risk of bronchiectasis. There is potential hope of earlier diagnosis with newborn screening, and a potential cure for these patients, in the form of gene therapy...
July 17, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
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