Results 31 to 40 of about 220,107 (299)

Newborn hearing screening

Srpski arhiv za celokupno lekarstvo, 2007
Introduction: Prevalence of sensorineural hearing loss is 1-3 per 1,000 newborns. Transient evoked otoacoustic emission (TEOAE) and automated auditory brain stem responses (AABR) are most frequently used methods in newborn hearing screening programmes. Objective.
Babac Snežana, Đerić Dragoslava, Ivanković Zoran   +2 more
openaire   +4 more sources

Survival Outcomes and Complications Among Canadian Children With Retinoblastoma: A Population‐Based Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Retinoblastoma (RB) is the most common pediatric ocular cancer, yet population‐based data on survival and risk factors remain limited. This study aimed to describe survival in a large national RB cohort and identify predictors of death and complications.
Samuel Sassine, Ofélie Trudeau‐Ferrin, Caroline Laverdière, Patrick Hamel, Rosanne Superstein, Bénédicte Koukoui, Carole Provost, Paul C. Nathan, Vijay Ramaswamy, Furqan Shaikh, Brenda Gallie, Ashwin Mallipatna, Stephanie Kletke, Helen Dimaras, Hallie Coltin   +14 more
wiley   +1 more source

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors

International Journal of Neonatal Screening, 2022
Testing immunoreactive trypsinogen (IRT) is the first step in cystic fibrosis (CF) newborn screening. While high IRT is associated with CF, some cases are missed.
Martin Kharrazi, Charlene Sacramento, Anne Marie Comeau, Jaime E. Hale, Michele Caggana, Denise M. Kay, Rachel Lee, Brendan Reilly, John D. Thompson, Samya Z. Nasr, Mary Kleyn, Gary Hoffman, Mei W. Baker, Colleen Clarke, Cheryl L. Harris, M. Christine Dorley, Hilary Fryman, Ankit Sutaria, Amy Hietala, Holly Winslow, Holly Richards, Bradford L. Therrell   +21 more
doaj   +1 more source

Adherence to Protocol Recommendations for Children With Wilms Tumour in Two Consecutive Studies in the United Kingdom and Ireland—Does Variation Matter?

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background and Aims Wilms tumour (WT) has excellent event‐free and overall survival (OS). However, small differences exist between countries participating in the same international study. This led us to examine variation in adherence to protocol recommendations as a potential contributing factor.
Suzanne Tugnait, R. Al‐Saadi, A. Lopez‐Cortes, K. Dzhuma, M. Oostveen, J. Brok, S. Irtan, M. Weeks, J. Bate, S. Baker, R. Williams, M. Powis, D. Saunders, O. Olsen, T. Watson, S. Shelmerdine, S. Vaidya, L. Howell, C. Duncan, G. M. Vujanic, C. Stiller, G. P. Balchin, T. Chowdhury, K. Pritchard‐Jones   +23 more
wiley   +1 more source

Aetiologies after newborn hearing screening [PDF]

, 2014
C
Acke, Frederic, De Leenheer, Els, Dhooge, Ingeborg, Van Hoecke, Helen   +3 more
core   +1 more source

Dried blood spots in toxicology : from the cradle to the grave? [PDF]

, 2012
About a century after its first described application by Ivar Bang, the potential of sampling via dried blood spots (DBS) as an alternative for classical venous blood sampling is increasingly recognized.
De Kesel, Pieter, Ingels, Ann-Sofie, Lambert, Willy, Stove, Christophe   +3 more
core   +1 more source

Sirolimus for Extracranial Arteriovenous Malformations: A Scoping Review of the Evidence in Syndromic and Non‐Syndromic Cases

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Arteriovenous malformations (AVMs) are rare, high‐flow, vascular anomalies that can occur either sporadically or as part of a genetic syndrome. AVMs can progress with serious morbidity and even mortality if left unchecked. Sirolimus is an mTOR inhibitor that is effective in low‐flow vascular malformations; however, its role in AVMs is unclear.
Will Swansson, Ingrid Winship, Gary Hammerschlag, Laura Scardamaglia   +3 more
wiley   +1 more source

NRASQ61R Expression in Lymphatic Endothelial Cells Causes Enlarged Vessels, Hemorrhagic Chylous Effusions, and High Mortality in a Mouse Model of Kaposiform Lymphangiomatosis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Kaposiform lymphangiomatosis (KLA) is an aggressive complex lymphatic anomaly. Patients exhibit malformed lymphatic vessels and often develop hemorrhagic effusions and elevated angiopoietin‐2 (Ang‐2) levels. A somatic NRAS p.Q61R (NRASQ61R) mutation has been associated with KLA.
C. Griffin McDaniel, Patricia Pastura, Joshua P. Scallan, Timothy D. Le Cras   +3 more
wiley   +1 more source

Validation on the First-Tier Fully Automated High-Throughput SMN1, SMN2, TREC, and RPP30 Quantification by Quadruplex Droplet Digital PCR for Newborn Screening for Spinal Muscular Atrophy and Severe Combined Immunodeficiency

International Journal of Neonatal Screening
Newborn screening (NBS) for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) faces challenges. Accurate and precise SMN1 and SMN2 copy number determination, confirmed by two orthogonal methods, are vital for SMA prognostication ...
Chloe Miu Mak, Timothy Yiu Cheong Ho, Man Kwan Yip, Felicite Enyu Song, Raymond Chiu Mo Tam, Leanne Wing Ying Yu, Ann Anhong Ke, Eric Chun Yiu Law, Toby Chun Hei Chan, Matthew Chun Wing Yeung   +9 more
doaj   +1 more source

Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project

International Journal of Neonatal Screening, 2023
Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic pathogenic/likely pathogenic variants of the survival motor neuron 1 (SMN1) gene.
Farshad Niri, Jessie Nicholls, Kelly Baptista Wyatt, Christine Walker, Tiffany Price, Rhonda Kelln, Stacey Hume, Jillian Parboosingh, Margaret Lilley, Hanna Kolski, Ross Ridsdale, Andrew Muranyi, Jean K. Mah, Dennis E. Bulman   +13 more
doaj   +1 more source