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https://www.readbyqxmd.com/read/28725570/enzyme-activities-of-%C3%AE-glucosidase-in-japanese-neonates-with-pseudodeficiency-alleles
#1
Ryuichi Mashima, Torayuki Okuyama
Lysosomal storage disorders (LSDs) are caused by defective enzyme activities in lysosomes, characterized by the accumulation of sphingolipids, glycolipids, oligosaccharides, mucopolysaccharides, the oxidation products of cholesterol, and other biological substances. A growing number of clinical studies have suggested the enhanced efficacy of existing therapies, including enzyme replacement therapy, which is effective when it is initiated during the presymptomatic period. Thus, the identification of disease-affected individuals by newborn screening has been considered an effective platform...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28725112/evaluation-of-transmission-infrared-spectroscopy-and-digital-and-optical-refractometers-to-identify-low-immunoglobulin-g-concentrations-in-alpaca-serum
#2
Ibrahim Elsohaby, Jennifer J Burns, Christopher B Riley, J Trenton McClure
This study aimed to evaluate the digital Brix and optical serum total protein (STP) refractometers for measuring concentrations of serum immunoglobulin G (IgG) in alpacas and compare them to IgG concentrations measured by the reference method of radial immunodiffusion (RID) assay. The appropriate cutoff point for Brix and STP refractometers and the transmission infrared (TIR) spectroscopy method was determined for low IgG concentrations (< 10 g/L). Serum samples were collected from alpacas (N = 169) and tested by both refractometers...
July 2017: Canadian Journal of Veterinary Research, Revue Canadienne de Recherche Vétérinaire
https://www.readbyqxmd.com/read/28723800/effects-of-somatostatin-octreotide-treatment-in-neonates-with-congenital-chylothorax
#3
Rong Yin, Rong Zhang, Jin Wang, Lin Yuan, Liyuan Hu, Siyuan Jiang, Chao Chen, Yun Cao
The influence of somatostatin/octreotide treatment on outcomes of neonates with congenital chylothorax remains controversial. We retrospectively reviewed our experience with somatostatin/octreotide therapy in neonates with this very rare disease.Fourteen neonates with congenital chylothorax who were treated with somatostatin (3.5-7 μg/kg/h, before 2016) or octreotide (1-6 μg/kg/h, after January 2016), along with traditional management between 2013 and 2016, were retrospectively reviewed in this observational study...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#4
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28715154/the-role-of-oxidative-stress-in-acute-renal-injury-of-newborn-rats-exposed-to-hypoxia-and-endotoxin
#5
Egor Y Plotnikov, Tatiana A Pavlenko, Irina B Pevzner, Ljubava D Zorova, Vasily N Manskikh, Denis N Silachev, Gennady T Sukhikh, Dmitry B Zorov
Neonatal kidney injury is a frequent pathology, especially among premature infants. The search for effective nephroprotection requires the creation of adequate experimental models of nephropathy in newborns. In this study, we explored the development of acute kidney injury (AKI) in neonatal rats during hypoxia or administration of endotoxin. We found that 2-h hypoxia (8% O2 ) and the intraperitoneal injection of 4 mg/kg lipopolysaccharide (LPS) causes the appearance of AKI markers, such as КIM-1 and NGAL in the rat urine after 24 and 72 h of exposure...
July 17, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28712949/role-of-early-second-trimester-uterine-artery-doppler-screening-to-predict-small-for-gestational-age-babies-in-nulliparous-women
#6
Samuel Parry, Anthony Sciscione, David M Haas, William A Grobman, Jay D Iams, Brian M Mercer, Robert M Silver, Hyagriv N Simhan, Ronald J Wapner, Deborah A Wing, Michal A Elovitz, Frank P Schubert, Alan Peaceman, M Sean Esplin, Steve Caritis, Michael P Nageotte, Benjamin A Carper, George R Saade, Uma M Reddy, Corette B Parker
BACKGROUND: Trophoblastic invasion of the uterine spiral arteries substantially increases compliance to accommodate increased blood flow to the placenta. Failure of this process impedes uterine artery blood flow, and this may be detected by uterine artery Doppler flow studies. However, the clinical utility of uterine artery Doppler flow studies in the prediction of adverse pregnancy outcomes in a general population remains largely unknown. OBJECTIVE: To determine the utility of early second trimester uterine artery Doppler studies as a predictor of small for gestational age (SGA) neonates...
July 13, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28711318/procalcitonin-guided-decision-making-for-duration-of-antibiotic-therapy-in-neonates-with-suspected-early-onset-sepsis-a-multicentre-randomised-controlled-trial-neopins
#7
Martin Stocker, Wendy van Herk, Salhab El Helou, Sourabh Dutta, Matteo S Fontana, Frank A B A Schuerman, Rita K van den Tooren-de Groot, Jantien W Wieringa, Jan Janota, Laura H van der Meer-Kappelle, Rob Moonen, Sintha D Sie, Esther de Vries, Albertine E Donker, Urs Zimmerman, Luregn J Schlapbach, Amerik C de Mol, Angelique Hoffman-Haringsma, Madan Roy, Maren Tomaske, René F Kornelisse, Juliette van Gijsel, Eline G Visser, Sten P Willemsen, Annemarie M C van Rossum
BACKGROUND: Up to 7% of term and late-preterm neonates in high-income countries receive antibiotics during the first 3 days of life because of suspected early-onset sepsis. The prevalence of culture-proven early-onset sepsis is 0·1% or less in high-income countries, suggesting substantial overtreatment. We assess whether procalcitonin-guided decision making for suspected early-onset sepsis can safely reduce the duration of antibiotic treatment. METHODS: We did this randomised controlled intervention trial in Dutch (n=11), Swiss (n=4), Canadian (n=2), and Czech (n=1) hospitals...
July 12, 2017: Lancet
https://www.readbyqxmd.com/read/28710204/bio-plex-immunoassay-measuring-the-quantity-of-lysosomal-n-acetylgalactosamine-6-sulfatase-protein-in-dried-blood-spots-for-the-screening-of-mucopolysaccharidosis-iva-in-newborn-a-pilot-study
#8
Chih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, Sung-Fa Huang, Shuan-Pei Lin
OBJECTIVE: Mucopolysaccharidosis (MPS) IVA (Morquio syndrome A) is an autosomal-recessive lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS) resulting in excessive lysosomal storage of keratan sulfate. Treatments for MPS IVA have recently become available with optimal outcomes associated with early diagnosis and treatment which can be achieved by newborn screening. DESIGN: Newborn screening programme for MPS IVA pilot study...
July 13, 2017: BMJ Open
https://www.readbyqxmd.com/read/28704835/high-prevalence-of-pulmonary-hypertension-complicates-the-care-of-infants-with-omphalocele
#9
Shandee Hutson, Joanne Baerg, Douglas Deming, Shawn D St Peter, Andrew Hopper, Donna A Goff
BACKGROUND: Omphalocele is one of the most common abdominal wall defects. Many newborn infants born with omphalocele present with significant respiratory distress at birth, requiring mechanical ventilatory support, and have clinical evidence of pulmonary hypertension. Little information exists on the prevalence of and risk factors associated with pulmonary hypertension in this cohort of infants. OBJECTIVES: To describe the prevalence of and risk factors associated with pulmonary hypertension among infants with omphalocele...
July 14, 2017: Neonatology
https://www.readbyqxmd.com/read/28704828/extremely-high-prevalence-of-maternal-and-neonatal-vitamin-d-deficiency-in-the-arab-population
#10
Mona A Fouda, Iqbal Z Turkestani, Sara Almusharraf, Abdulrahman Al-Ajlan, Fatima F Angkaya-Bagayawa, Shaun Sabico, Ashry Gad Mohammed, Rana Hassanato, Amal Al-Serehi, Naemah M Alshingetti, Nasser M Al-Daghri
BACKGROUND: Vitamin D deficiency is a global public health problem. The published literature on vitamin D deficiency is limited among Arab pregnant women and its association with different metabolic markers. OBJECTIVE: To determine the prevalence of vitamin D deficiency in Arab pregnant women and neonates and its association with various biomarker profiles. METHODS: This is a multicenter study taken from a large prospective project in Riyadh, the capital city of Saudi Arabia...
July 14, 2017: Neonatology
https://www.readbyqxmd.com/read/28697824/-analysis-of-treatment-efficacy-for-congenital-hypothyroidism-in-some-regions-of-yunnan-province-china
#11
Jing-Hui Yang, Jing-Hui Zhang, Yin-Hong Zhang, Xiao-Zhi Xu, Hong Chen, Yuan Li, Yan Jiang, Zheng Wang, Bao-Sheng Zhu, Li Li
OBJECTIVE: To observe the effects of initial doses and treatment timing of levothyroxine (L-T4) on the clinical efficacy in children with congenital hypothyroidism (CH). METHODS: This study included 98 children who had an abnormal level of thyroid stimulating hormone (TSH) in neonatal screening in four regions of Yunnan Province and who finally had a confirmed diagnosis of CH. They received treatment with L-T4 and were divided into standard dose group (10-15 μg/kg per day) and low dose group (<10 μg/kg per day) by the therapeutic dose of L-T4...
July 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28697724/early-characteristics-of-infants-with-pulmonary-hypertension-in-a-referral-neonatal-intensive-care-unit
#12
Shilpa Vyas-Read, Usama Kanaan, Prabhu Shankar, Jane Stremming, Curtis Travers, David P Carlton, Anne Fitzpatrick
BACKGROUND: Approximately 8-23% of premature infants develop pulmonary hypertension (PH), and this diagnosis confers a higher possibility of mortality. As a result, professional societies recommend PH screening in premature infants. However, the risk factors for and the outcomes of PH may differ depending on the timing of its diagnosis, and little evidence is available to determine at-risk infants in the referral neonatal population. The objective of this study was to define clinical and echocardiographic characteristics of infants with pulmonary hypertension during the neonatal hospital course and at or near-term...
July 11, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28697684/what-is-the-accuracy-of-an-early-third-trimester-sonogram-for-identifying-lga-infants-born-to-gdm-patients-diagnosed-with-the-one-step-approach
#13
Kelsey J Simpson, Meredith Pavicic, Gene T Lee
PURPOSE: The one-step approach for screening of GDM will increase the incidence 2- to 3-fold. These larger cohorts may need to target high-morbidity subsets to be cost-effective. We asked whether ultrasound could stratify the GDM patients with the highest risk for a large for gestational age (LGA) infant. MATERIALS AND METHODS: A retrospective analysis was performed on 413 GDM patients diagnosed using the one-step approach. Ultrasound data from 28 weeks 0 day to 34 weeks 6 days was studied...
July 11, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28697607/wideband-acoustic-immittance-for-assessing-middle-ear-functioning-for-preterm-neonates-in-the-neonatal-intensive-care-unit
#14
Nandel Gouws, De Wet Swanepoel, Leigh Biagio De Jager
BACKGROUND: The primary aim of newborn hearing screening is to detect permanent hearing loss. Because otoacoustic emissions (OAEs) and automated auditory brainstem response (AABR) are sensitive to hearing loss, they are often used as screening tools. On the other hand, false-positive results are most often because of transient outer- and middle ear conditions. Wideband acoustic immittance (WAI), which includes physical measures known as reflectance and absorbance, has shown potential for accurate assessment of middle ear function in young infants...
June 28, 2017: South African Journal of Communication Disorders. die Suid-Afrikaanse Tydskrif Vir Kommunikasieafwykings
https://www.readbyqxmd.com/read/28695774/regulatory-risk-assessments-is-there-a-need-to-reduce-uncertainty-and-enhance-robustness-update-on-propylparaben-in-relation-to-its-eu-regulatory-status
#15
D Snodin
Over 10 years ago, propylparaben (propyl- p-hydroxybenzoate; PP) was withdrawn as a permitted food preservative in the EU based entirely on findings reported in a single dietary study in juvenile rats claiming to show adverse effects on male reproductive parameters [Oishi S. Effects of propyl paraben on the male reproductive system. Food Chem Toxicol 2002; 40(12): 1807 -1813]. Subsequent data reviews have cast serious doubt on the validity of the Oishi results, mainly in relation to aberrant concurrent-control values, and in two further comprehensive studies using neonatal and juvenile rats there were no adverse effects in males at oral doses up to 1000 mg/kg/day...
January 1, 2017: Human & Experimental Toxicology
https://www.readbyqxmd.com/read/28695637/antenatal-management-of-fetal-intrapericardial-teratoma-a-systematic-review
#16
REVIEW
Ahmed A Nassr, Sherif A Shazly, Shaine A Morris, Nancy Ayres, Jimmy Espinoza, Hadi Erfani, Olutoyin A Olutoye, Sara K Sexson, Oluyinka O Olutoye, Charles D Fraser, Michael A Belfort, Alireza A Shamshirsaz
OBJECTIVES: The purpose of this systematic review is to provide a comprehensive overview on the clinical course, perinatal outcome and effectiveness of antenatal management options for pericardial teratoma. METHODS: A comprehensive search including Ovid MEDLINE, Ovid EMBASE, and Scopus was conducted from inception to September 2016. All studies that reported the antenatal course of pericardial teratoma in singleton or twin gestations were considered eligible Standardized forms were used for data abstraction by two independent reviewers...
July 10, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28695165/neonatal-retinoblastoma
#17
REVIEW
Tero T Kivelä, Theodora Hadjistilianou
From 7% to 10% of all retinoblastomas and from 44% to 71% of familial retinoblastomas in developed countries are diagnosed in the neonatal period, usually through pre- or post-natal screening prompted by a positive family history and sometimes serendipitously during screening for retinopathy of prematurity or other reasons. In developing countries, neonatal diagnosis of retinoblastoma has been less common. Neonatal retinoblastoma generally develops from a germline mutation of RB1, the retinoblastoma gene, even when the family history is negative and is thus usually hereditary...
July 2017: Asia-Pacific Journal of Oncology Nursing
https://www.readbyqxmd.com/read/28694389/are-lower-tsh-cutoffs-in-neonatal-screening-for-congenital-hypothyroidism-warranted-a-debate
#18
Samantha Lain, Caroline Trumpff, Scott D Grosse, Antonella Olivieri, Guy Van Vliet
When newborn screening (NBS) for congenital hypothyroidism (CH) using thyroid stimulating hormone (TSH) as a primary screening test was introduced, typical TSH screening cutoffs were 20 to 50 mU/L of whole blood. Over the years, lowering of TSH cutoffs has contributed to an increased prevalence of detected CH. However, a consensus on the benefit deriving from lowering TSH cutoffs at screening is lacking. The present paper outlines arguments both for and against the lowering of TSH cutoffs at NBS. It includes a review of recently published evidence from Australia, Belgium, and Italy...
July 10, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28693667/distribution-of-chlamydia-trachomatis-genotypes-in-neonatal-conjunctivitis-in-hungary
#19
Eszter Balla, Fruzsina Petrovay, Tímea Erdősi, Andrea Balázs, Judit Henczkó, Edit Urbán, Gilbert G G Donders
The objective of the present study was to determine the frequency and age distribution of different Chlamydia trachomatis (CT) genotypes causing ophthalmia neonatorum (ON) in Hungary. Using CT specific PCR, we tested 76 conjunctival samples from symptomatic infants up to 3 months old in the National Centre for Epidemiology, Budapest between 2008 and 2016. CT tested positive in 30 of 76 conjunctival samples (39.5 %). The sequencing of the positive samples was successful in every case but one, and resulted in 48 % dominance for genotype E (14/29), followed by 24 % for genotype G (7/29), 10 % for J (3/29), 6...
July 10, 2017: Journal of Medical Microbiology
https://www.readbyqxmd.com/read/28693459/screening-for-glucose-6-phosphate-dehydrogenase-deficiency-in-neonates-a-comparison-between-cord-and-peripheral-blood-samples
#20
Saif AlSaif, Ma Bella Ponferrada, Khalid AlKhairy, Khalil AlTawil, Adel Sallam, Ibrahim Ahmed, Mohammed Khawaji, Khalid AlHathlol, Beverly Baylon, Ahmed AlSuhaibani, Mohammed AlBalwi
BACKGROUND: The use of cord blood in the neonatal screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency is being done with increasing frequency but has yet to be adequately evaluated against the use of peripheral blood sample which is usually employed for confirmation. We sought to determine the incidence and gender distribution of G6PD deficiency, and compare the results of cord against peripheral blood in identifying G6PD DEFICIENCY neonates using quantitative enzyme activity assay...
July 11, 2017: BMC Pediatrics
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