Results 41 to 50 of about 13,071,153 (288)

Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease [PDF]

Genetics in Medicine, 2018
To describe a novel biochemical marker in dried blood spots suitable to improve the specificity of newborn screening for Pompe disease.The new marker is a ratio calculated between the creatine/creatinine (Cre/Crn) ratio as the numerator and the activity of acid α-glucosidase (GAA) as the denominator.
Silvia, Tortorelli, Jason S, Eckerman, Joseph J, Orsini, Colleen, Stevens, Jeremy, Hart, Patricia L, Hall, John J, Alexander, Dimitar, Gavrilov, Devin, Oglesbee, Kimiyo, Raymond, Dietrich, Matern, Piero, Rinaldo   +11 more
openaire   +2 more sources

The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing

BMC Medical Genomics, 2020
Background Intellectual disability (ID) is a heterogeneous neurodevelopmental disorder with a complex genetic underpinning in its etiology. Chromosome microarray (CMA) is recommended as the first-tier diagnostic test for ID due to high detection rate of ...
Jun Wang, Yan Wang, Liwen Wang, Wang Yang Chen, Min Sheng   +4 more
doaj   +1 more source

Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism

Journal of Laboratory Medicine, 2021
Next generation sequencing (NGS) technology has allowed cost-effective massive parallel DNA sequencing. To evaluate the utility of NGS for newborn screening (NBS) of inborn errors of metabolism (IEM), a custom panel was designed to target 87 disease ...
Tsang Kwok Yeung, Chan Toby Chun Hei, Yeung Matthew Chun Wing, Wong Tsz Ki, Lau Wan Ting, Mak Chloe Miu   +5 more
doaj   +1 more source

ANALISIS TINGKAT PEMAHAMAN KONSEP SISWA KELAS XI IPA SMAN 3 MATARAM MENGGUNAKAN ONE TIER DAN TWO TIER TEST MATERI KELARUTAN DAN HASIL KALI KELARUTAN [PDF]

, 2013
Abstrak: Penelitian ini bertujuan untuk menganalisis tingkat pemahaman konsep siswa kelas XI IPA SMAN 3 Mataram menggunakan one tier dan two tier test materi kelarutan dan hasil kali kelarutan.
Laksmiwati, Dwi, Andayani, Yayuk, Dwi Laksmiwati, Nabilah, Nabilah, Yayuk Andayani, Nabilah Nabilah   +5 more
core   +1 more source

Neonatal Screening for CAH in Sweden-Results of Implementing Second-Tier Testing. [PDF]

Int J Neonatal Screen
Newborn screening for congenital adrenal hyperplasia (CAH) is effective in identifying patients with severe forms before a potentially lethal crisis, but has a relatively high false-positive rate. The aim of this study was to improve the national neonatal screening program in Sweden and the positive predictive value by implementing LC-MS/MS second-tier
Engström K, Zetterström RH, Wedell A, Nordenström A.   +3 more
europepmc   +2 more sources

First-tier next-generation sequencing for newborn screening: An important role for biochemical second-tier testing

Genetics in Medicine Open, 2023
There is discussion of expanding newborn screening (NBS) through the use of genomic sequence data; yet, challenges remain in the interpretation of DNA variants. Population-level DNA variant databases are available, and it is possible to estimate the number of newborns who would be flagged as having a risk for a genetic disease (including rare variants ...
Sarah L. Stenton, Madelynn Campagna, Anthony Philippakis, Anne O'Donnell-Luria, Michael H. Gelb   +4 more
openaire   +3 more sources

Evidence‐Informed Multidisciplinary Consensus Guidance for the Psychosocial Care of Adolescents With High‐Risk Cancer: Recommendations From the Italian Association of Pediatric Hematology and Oncology

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Adolescents with high‐risk cancer face complex developmental, psychosocial, and ethical challenges that extend beyond disease‐directed treatment. Although international recommendations exist for communication, psychosocial care, pediatric palliative care, survivorship, and shared decision‐making, these have largely evolved within ...
Johanna M. C. Blom, Dorella Scarponi, Giulia Zucchetti, Teresa Perillo, Maria Montanaro, Elisa Marconi, Chiara Rutigliano, Paolo Colavero, Paola Quarello, Marina Bertolotti, Monica Cellini, Carlo Clerici, Maurizio Mascarin, Francesca Bomben, Andrea Ferrari, the expert workgroup   +15 more
wiley   +1 more source

Bridging the Loneliness Gap: Depression, Connectivity, and Isolation in Pediatric Oncology Patients and Their Peers

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Loneliness is associated with adverse physical and mental health outcomes and remains understudied in children and adolescents undergoing cancer therapy. Pediatric oncology patients may be at increased risk due to medical isolation and disruption of social networks.
Charlotte N. Stahlfeld, Scott H. Maurer, Michelle D. Watkinson, John Nury, Elise Barberis, Molly C. Mack   +5 more
wiley   +1 more source

Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine, Hallie Coltin, Sylvia Cheng, Lucie Lafay‐Cousin, Vanan Issai Magimairajan, Craig Erker, Stéphanie Vairy, Lynette Bowes, Adam Fleming, Donna Johnston, Sarah McKillop, Roona Sinha, Julie Bennett, Christina Coleman, Laura Wheaton, Shayna Zelcer, Samuele Renzi, Thai Hoa Tran   +17 more
wiley   +1 more source

Wiener-Tier-Schutzverein

WIENER-TIER-SCHUTZVEREIN Wiener-Tier-Schutzverein ( -
Wiener-Tier-Schutzverein
core   +3 more sources