keyword
MENU ▼
Read by QxMD icon Read
search

Newborn Screening

keyword
https://www.readbyqxmd.com/read/29339739/newborn-screening-of-glucose-6-phosphate-dehydrogenase-deficiency-in-guangxi-china-determination-of-optimal-cutoff-value-to-identify-heterozygous-female-neonates
#1
Chunyun Fu, Shiyu Luo, Qifei Li, Bobo Xie, Qi Yang, Guoxing Geng, Caijuan Lin, Jiasun Su, Yue Zhang, Jin Wang, Zailong Qin, Jingsi Luo, Shaoke Chen, Xin Fan
The aim of this study is to assess the disease incidence and mutation spectrum of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangxi, China, and to determine an optimal cutoff value to identify heterozygous female neonates. A total of 130, 635 neonates were screened from the year of 2013 to 2017. Neonates suspected for G6PD deficiency were further analyzed by quantitatively enzymatic assay and G6PD mutation analysis. The overall incidence of G6PD deficiency was 7.28%. A total of 14 G6PD mutations were identified, and different mutations lead to varying levels of G6PD enzymatic activities...
January 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29338783/children-with-premature-pubarche-is-an-alterated-neonatal-17-ohp-screening-test-a-predictive-factor
#2
Paolo Cavarzere, Margherita Mauro, Monica Vincenzi, Silvana Lauriola, Francesca Teofoli, Rossella Gaudino, Diego Alberto Ramaroli, Rocco Micciolo, Marta Camilot, Franco Antoniazzi
BACKGROUND: Neonatal screening for 21 hydroxylase deficiency is designed to detect classical form of congenital adrenal hyperplasia (CAH). It is still unclear whether newborns who result false positives at neonatal screening might later develop signs of androgen excess. The aim of this study is to verify whether a slightly elevated 17-OHP at newborn screening is a predictive factor for premature pubarche. METHODS: We evaluated all infants born between 2001 and 2014 with premature pubarche...
January 16, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29337843/evaluation-of-a-decision-tree-for-efficient-antenatal-red-blood-cell-antibody-screening
#3
Isabelle le Ray, Brian Lee, Agneta Wikman, Marie Reilly
BACKGROUND: Hemolytic disease of the fetus and newborn due to maternal red blood cell alloimmunization can have serious consequences. Since early detection enables careful monitoring of affected pregnancies, programs to routinely screen all pregnant women have been widely adopted. Due to the low prevalence of alloimmunization, these require large investments of resources to detect a small number of cases. METHODS: We conducted a validation study of a decision tree developed in the Netherlands for determining whether to screen for alloimmunization...
January 15, 2018: Epidemiology
https://www.readbyqxmd.com/read/29336944/editorial-commentary-newborn-screening-for-fabry-disease-too-much-too-soon
#4
EDITORIAL
M Langeveld
No abstract text is available yet for this article.
January 5, 2018: Trends in Cardiovascular Medicine
https://www.readbyqxmd.com/read/29336486/preventing-posttraumatic-stress-disorder-following-childbirth-and-traumatic-birth-experiences-a-systematic-review
#5
Lisanne F de Graaff, Adriaan Honig, Mariëlle G van Pampus, Claire A I Stramrood
INTRODUCTION: Between 9 and 44% of women experience giving birth as traumatic, and 3% of women develop a posttraumatic stress disorder following childbirth. Knowledge on risk factors is abundant, but studies on treatment are limited. This study aimed to present an overview of means to prevent traumatic birth experiences and childbirth-related posttraumatic stress disorder. MATERIAL AND METHODS: Major databases (Cochrane; Embase; PsycINFO; PubMed (Medline)) were searched using combinations of the key words and their synonyms...
January 16, 2018: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/29335813/organic-acidurias-in-adults-late-complications-and-management
#6
Ali Tunç Tuncel, Nikolas Boy, Marina A Morath, Friederike Hörster, Ulrike Mütze, Stefan Kölker
Organic acidurias (synonym, organic acid disorders, OADs) are a heterogenous group of inherited metabolic diseases delineated with the implementation of gas chromatography/mass spectrometry in metabolic laboratories starting in the 1960s and 1970s. Biochemically, OADs are characterized by accumulation of mono-, di- and/or tricarboxylic acids ("organic acids") and corresponding coenzyme A, carnitine and/or glycine esters, some of which are considered toxic at high concentrations. Clinically, disease onset is variable, however, affected individuals may already present during the newborn period with life-threatening acute metabolic crises and acute multi-organ failure...
January 15, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29335023/early-neonatal-glutaric-aciduria-type-i-hidden-by-perinatal-asphyxia-a-case-report
#7
Giacomo Biasucci, Nicola Morelli, Federica Natacci, Massimo Mastrangelo
BACKGROUND: Perinatal asphyxia (PA) occurs in about 2 to 10 per 1000 live full-term births. Although neonatal epileptic seizures are observed in up to 60% of cases, PA may mimic or subtend other conditions. Hypoxia related brain injury is particularly relevant, as it may have permanent effects on neuropsychomotor development. Antepartum obstetric conditions, may, in turn, lead to hypoxic-ischemic damage to the fetus and the newborn, often underlying PA. Herein, a case of PA that hid and triggered signs and symptoms of Glutaric Aciduria type I (GA-I), is reported...
January 15, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29328469/human-cytomegalovirus-ul141-protein-interacts-with-celf5-and-affects-viral-dna-replication
#8
Fei Zou, Zhi-Tao Lu, Shuang Wang, Si Wu, Ying-Ying Wu, Zheng-Rong Sun
Human cytomegalovirus (HCMV) infection is the primary viral cause of congenital abnormalities and mental retardation in newborns. The HCMV UL141‑encoded glycoprotein has been previously revealed to inhibit the cell‑surface expression of cluster of differentiation (CD)155, CD122, tumor necrosis factor‑related apoptosis‑inducing ligand death (TRAIL)‑receptor 1 (R1) and TRAIL‑receptor 2 (R2), thus protecting virally‑infected cells by allowing them to escape natural killer cell‑mediated cytotoxicity...
January 10, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29326876/mildly-elevated-succinylacetone-and-normal-liver-function-in-compound-heterozygotes-with-pathogenic-and-pseudodeficient-fah-alleles
#9
Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J Waters, Grant A Mitchell
Background: A high level of succinylacetone (SA) in blood is a sensitive, specific marker for the screening and diagnosis of hepatorenal tyrosinemia (HT1, MIM 276700). HT1 is caused by mutations in the FAH gene, resulting in deficiency of fumarylacetoacetate hydrolase. HT1 newborns are usually clinically asymptomatic, but have coagulation abnormalities revealing liver dysfunction. Treatment with nitisinone (NTBC) plus dietary restriction of tyrosine and phenylalanine prevents the complications of HT1...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326865/rectal-atresia-and-congenital-hypothyroidism-an-association-or-coincidence
#10
Feride Mehmetoğlu
Rectal atresia is a rare anorectal malformation, and its association with other anomalies is even more rare. This study presents a unique case of co-twin in which the surviving newborn male underwent surgery due to rectal atresia. Newborn screening tests identified congenital hypothyroidism. The surgical treatment consisted of three stages and thyroid hormones were replaced.
January 2018: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/29326055/a-retrospective-biochemical-molecular-and-neurocognitive-review-of-saudi-patients-with-argininosuccinic-aciduria
#11
Ruqaiah AlTassan, Dalal Bubshait, Faiqa Imtiaz, Zuhair Rahbeeni
A retrospective review was compiled of 54 patients with argininosuccinic aciduria who were either identified through the Saudi National Newborn Screening Program or diagnosed clinically from January 2000 to December 2015. The duration of follow-up is from 2 to 19 years. The majority of patients (65%) originated from the central province of Saudi Arabia. The mean patient age at review was 10 years (2-19 years), 92% received an early diagnosis (<28 days of age) and most were symptomatic at the time of the diagnosis (n = 34)...
January 8, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29325045/mean-high-dose-l-thyroxine-treatment-is-efficient-and-safe-to-achieve-a-normal-iq-in-young-adult-patients-with-congenital-hypothyroidism
#12
Paulina Aleksander, Michaela Brückner-Spieler, Anne-Marie Stöhr, Erwin Lankes, Peter Kühnen, Dirk Schnabel, Andrea Ernert, Walter Stäblein, Maria E Craig, Oliver Blankenstein, Annette Grüters, Heiko Krude
Context: The optimal levothyroxine (LT4) dose required to treat congenital hypothyroidism (CH) remains unclear, with a debate if higher starting doses (>10µg/kg) are necessary and safe for normal Intelligence Quotient (IQ). Objective: To examine the psychomotor, metabolic and quality of life outcome in patients with CH treated with a mean high initial LT4 dose. Design, settings, participants: A cross- sectional cohort study of CH patients identified in the Berlin newborn screening programme from 1979-2003...
January 9, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29315321/inner-cell-mass-incarceration-in-8-shaped-blastocysts-does-not-increase-monozygotic-twinning-in-preimplantation-genetic-diagnosis-and-screening-patients
#13
Yi-Fan Gu, Qin-Wei Zhou, Shuo-Ping Zhang, Chang-Fu Lu, Fei Gong, Yue-Qiu Tan, Guang-Xiu Lu, Ge Lin
BACKGROUND: The use of assisted reproductive technology (ART) has been reported to increase the incidence of monozygotic twinning (MZT) compared with the incidence following natural conception. It has been hypothesized that splitting of the inner cell mass (ICM) through a small zona hole may result in MZT. In this study, using a cohort of patients undergoing preimplantation genetic diagnosis/screening (PGD/PGS), we compared the clinical and neonatal outcomes of human 8-shaped blastocysts hatching with ICM incarceration with partially or fully hatched blastocysts, and attempted to verify whether this phenomenon increases the incidence of MZT pregnancy or negatively impact newborns...
2018: PloS One
https://www.readbyqxmd.com/read/29315182/enlarged-vestibular-aqueduct-and-cochlear-implants-the-effect-of-early-counseling-on-the-length-of-time-between-candidacy-and-implantation
#14
Katlyn Bostic, Rebecca M Lewis, Brianna Chai, Juliana L Manganella, Devon L Barrett, Kosuke Kawai, Margaret A Kenna, Derek J Stiles, Terrell Clark
OBJECTIVE: To determine if discussing cochlear implantation (CI) with patients with enlarged vestibular aqueducts (EVA) and their families before reaching audiological criteria for CI candidacy effects the length of time between reaching audiological candidacy and CI surgery, and to describe the universal newborn hearing screening (UNHS) results and communication modality in this sample. PATIENTS: Forty-two patients (25 females) with confirmed EVA and cochlear implants...
February 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29314759/reduced-specificity-of-erns-antibody-elisas-for-samples-from-piglets-with-maternally-derived-antibodies-induced-by-vaccination-of-sows-with-classical-swine-fever-marker-vaccine-cp7_e2alf
#15
D Meyer, W Loeffen, A Postel, S Fritsche, P Becher
Successful implementation of marker vaccines against classical swine fever virus is dependent on a reliable accompanying diagnostic assay that allows differentiation of infected from vaccinated animals (DIVA) as well as the development of a testing scheme during emergency vaccination. In this context, special attention needs to be paid to breeding farms, because the offspring of marker vaccinated sows possess maternally derived antibodies (MDAs). So far, limited information is available on the influence of MDAs on serological testing in the context of a DIVA strategy...
January 4, 2018: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/29311095/5-of-healthy-newborns-have-an-etv6-runx1-fusion-as-revealed-by-dna-based-gipfel-screening
#16
Daniel Schäfer, Marianne Olsen, David Lähnemann, Martin Stanulla, Robert Slany, Kjeld Schmiegelow, Arndt Borkhardt, Ute Fischer
No abstract text is available yet for this article.
January 8, 2018: Blood
https://www.readbyqxmd.com/read/29310763/abnormal-t-cell-receptor-excision-circle-newborn-screen-what-next
#17
Benjamin T Prince, John M Routes
No abstract text is available yet for this article.
January 2018: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/29310675/failure-to-shorten-the-diagnostic-delay-in-two-ultra-orphan-diseases-mucopolysaccharidosis-types-i-and-iii-potential-causes-and-implications
#18
Gé-Ann Kuiper, Olga L M Meijer, Eveline J Langereis, Frits A Wijburg
BACKGROUND: Rare diseases are often un- or misdiagnosed for extended periods, resulting in a long diagnostic delay that may significantly add to the burden of the disease. An early diagnosis is particularly essential if a disease-modifying treatment is available. The purpose of this study was to assess the extent of the diagnostic delay in the two ultra-rare diseases, i.e., mucopolysaccharidosis I (MPS I) and III (MPS III), both of which are lysosomal storage disorders with different phenotypic severities (MPS 1 is characterized by the severe Hurler and the more attenuated non-Hurler phenotypes, MPS III is characterized by the severe rapidly progressing (RP) phenotype and more attenuated slowly progressing (SP) phenotype)...
January 8, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29310632/biomarkers-of-inflammation-in-infants-with-cystic-fibrosis
#19
Theresa A Laguna, Cynthia B Williams, Myra G Nunez, Cole Welchlin-Bradford, Catherine E Moen, Cavan S Reilly, Chris H Wendt
BACKGROUND: There are urgent needs for clinically relevant biomarkers to identify children with cystic fibrosis (CF) at risk for more progressive lung disease and to serve as outcome measures for clinical trials. Our objective was to investigate three targeted biomarkers in a population of asymptomatic CF infants. METHODS: Urine, blood and lung function data were collected for 2 years from clinically stable infants diagnosed with CF by newborn screening. A subset of CF infants had bronchoscopy with lavage performed at 6 months and 1 year...
January 8, 2018: Respiratory Research
https://www.readbyqxmd.com/read/29308354/ethnic-disparities-in-chronic-hepatitis-b-infection-african-americans-and-hispanic-americans
#20
Kimberly A Forde
Chronic infection with hepatitis B affects more than 240 million persons worldwide and is a major public health concern. Despite national and global initiatives to promote hepatitis B elimination, including newborn vaccination, catch up vaccination in adolescents and high-risk adults, screening of the blood supply and treatment of those in need, both new infections and a reservoir of chronic infections continue to result in morbidity and mortality. As with many chronic diseases, racial and ethnic disparities are seen in hepatitis B virus infection...
June 2017: Current Hepatology Reports
keyword
keyword
2466
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"