Results 21 to 30 of about 105,938 (265)

Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots—Reinstate the Potential Use for Newborn Screening of Wilson Disease

International Journal of Neonatal Screening, 2022
In this study, we modified a fully automatic immunoassay on ceruloplasmin concentration on dried blood spots (DBS) to increase its analytical sensitivity in order to accurately differentiate newborns from true Wilson disease (WD) patients.
Chloe Miu Mak, Ching Tung Choi, Tsz Ki Wong, Hanson Heearn Chin, Hillman Kai Yin Lai, Koon Yu Yuet   +5 more
doaj   +1 more source

Are Fertility Preservation Procedures Before Gonadotoxic Therapy and Hematopoietic Stem Cell Transplantation Feasible and Safe in Very Young Children? A Retrospective Cohort Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Fertility preservation (FP) is increasingly integrated into the care of pediatric patients exposed to gonadotoxic therapy or conditioning for hematopoietic stem cell transplantation (HSCT), yet perioperative data in infants and toddlers remain scarce.
Kerstin Saalabian, Yannick Braun, Till‐Martin Theilen, Anke Barnbrock, Theresa Rohm, Fabienne Hammant, Nicole Sänger, Aynura Abbasova‐Semiz, Jan‐Henning Klusmann, Thomas Klingebiel, Udo Rolle, Peter Bader, Henning C. Fiegel, Andrea Jarisch   +13 more
wiley   +1 more source

Newborn screening for galactosaemia [PDF]

Cochrane Database of Systematic Reviews, 2016
Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. This is a rare and potentially lethal condition that classically presents in the first week of life once milk feeds have commenced.
Rohollah, Lak, Bahareh, Yazdizadeh, Majid, Davari, Mojtaba, Nouhi, Roya, Kelishadi   +4 more
openaire   +4 more sources

Leukemia and Exposure to Potential Benzene Sources in Children From the Mexico City Metropolitan Area, 2010–2021: A Geospatial Analysis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Leukemia is the most common childhood cancer in Mexico, and acute lymphoblastic leukemia (ALL) is the most frequent subtype. Exposure to high concentrations of benzene has been associated with ALL incidence, particularly in urban areas. This study evaluated the relationship between distance to benzene emission sources and the number
Orlando Rivera Zurita, Norma Candelaria López Santiago, Claudia Maria García Cuellar, Karla Maldonado Silva, Nancy Reynoso Noverón, Leticia Hernández Cadena   +5 more
wiley   +1 more source

Early Impact of Childhood Opportunity on Neurocognitive Outcomes in Sickle Cell Disease

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Neurocognitive impairment is a well‐recognized complication of sickle cell disease (SCD) that begins early in childhood and persists across development. While cerebrovascular injury contributes substantially to risk, neurocognitive deficits are also observed in children without overt or silent cerebral infarctions, suggesting ...
Julia E. LaMotte, Hannah Koch, Olivia A. Coughlin, Jillian R. Bouck, Allie Carter, Seethal A. Jacob   +5 more
wiley   +1 more source

A 25-Year Retrospective on Bavaria’s Newborn Screening Programme: Achievements, Challenges and Long-Term Follow-Up

International Journal of Neonatal Screening
The German federal state of Bavaria implemented newborn screening (NBS) using dried blood spots (DBS) as an integrated public health programme with centralised coordination.
Uta Nennstiel, Inken Brockow, Birgit Odenwald, Carola Marzi, Marianne Hanauer, Esther Maier, Wulf Röschinger, Ralph Fingerhut, Bernhard Liebl   +8 more
doaj   +1 more source

Clinical, Histopathological, and Molecular Characterization of Pediatric MN1::ZNF341‐Associated Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT A lethal round‐cell malignancy with an MN1::ZNF341 fusion has recently been reported in three infants. Here, we describe four further tumors, three in newborns (including monozygotic twins), and one in an adolescent. Detailed clinical, radiological, and histopathological data differentiate these tumors from their main mimics, neuroblastoma and
Thomas R. W. Oliver, Dyanne Rampling, Barbara Walkowiak, Nathaniel D. Anderson, Manas Dave, Henry Lee‐Six, Sadie Baskind, Pooja Balasubramanian, Glenn Anderson, Conor Parks, Toochi Ogbonnah, Emilia R. Robertson, Simon Hannam, Rohan Verma, John C. Achermann, Liina Palm, Neil Sebire, Thomas Jacques, Tom Watson, Carryl Dryden, Karin Straathof, Mette Jorgensen, Olga Slater, Sam Behjati, Sarita Depani, J. Ciaran Hutchinson   +25 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

Solid Pseudopapillary Neoplasm of the Pancreas in Children and Adolescents: Expert Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Solid pseudopapillary neoplasm of the pancreas (SPN) is a rare low‐grade malignant exocrine pancreatic tumor, mostly discovered during the second decade of life in females, with a very good prognosis, provided microscopically complete surgical excision is achieved.
Sabine Irtan, Michael Abele, Calogero Virgone, Michaela Kuhlen, Ricardo Lopez‐Almarez, Tal Ben‐Ami, Ewa Bien, Maja Cesen, Malgorzata A. Krawczyk, Andrea Ferrari, Gianni Bisogno, Yves Reguerre, Dominik T. Schneider, Louise Galmiche, Jorg Fuchs, Sarah Braungart, Bilgehan Yalcin, Ines B. Brecht, Daniel Orbach   +18 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