Results 21 to 30 of about 1,407,914 (310)

Cystic fibrosis newborn screening: using experience to optimize the screening algorithm

, 2012
Newborn screening (NBS) for cystic fibrosis (CF) offers the opportunity for early diagnosis and improved outcomes in patients with CF and has been universally available in the state of Massachusetts since 1999 using an immunoreactive trypsinogen (IRT ...
Dorkin, Henry L., Spencer, L. Terry, Gerstle, Robert, O'Sullivan, Brian P., Parad, Richard B., Yee, William, Hale, Jaime E, Comeau, Anne Marie, Lapey, Allen   +8 more
core   +1 more source

Quantitative characterization of the urine and serum metabolomes of children is essential for ‘omics’ studies

BMC Medicine, 2018
Understanding the long-term health impacts of the early-life exposome requires the characterization and assimilation of multi ‘omics’ data to ultimately link molecular changes to exposures.
Alicia DiBattista, Pranesh Chakraborty
doaj   +1 more source

O-42 COSTA RICA NATIONAL NEWBORN SCREENING LABORATORY´S EXPERIENCE IN DIAGNOSING ALPHA-1 ANTITRYPSIN DEFICIENCY

Annals of Hepatology, 2023
Introduction and Objectives: Alpha-1 antitrypsin (AAT) is an acute-phase glycoprotein encoded by the SERPINA1 gene. This allele has a codominant expression and Alpha-1 antitrypsin deficiency (AATD) is caused by the inheritance of two affected alleles ...
Mariela Solano-Vargas, Juan Diego Gutiérrez-Ávila, Jessica Arroyo-Hernández, Danny Alvarado-Romero, Natassia Camacho-Matamoros, Mildred Jiménez-Hernández   +5 more
doaj   +1 more source

The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices

Frontiers in Immunology, 2020
Severe combined immunodeficiency (SCID) is T cell development disorders in the immune system and can be detected at birth. As of December 2018, all 53 newborn screening (NBS) programs within the United States and associated territories offer universal ...
Ruthanne Sheller, Jelili Ojodu, Emma Griffin, Sari Edelman, Careema Yusuf, Trey Pigg, Alissa Huston, Brian Fitzek, John G. Boyle, Sikha Singh   +9 more
doaj   +1 more source

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

Universal neonatal hearing screening moving from evidence to practice

, 2004
Recent technological advances have made feasible universal newborn hearing screening and therefore early detection of permanent childhood hearing impairment.
Kennedy, Colin R., McCann, Donna C., Alturo Mendigaña, Sandra, Vidal, Jaidith Eneth, Cárdenas Fragozo, Norelys   +4 more
core   +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

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

Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs [PDF]

, 2012
In November 2003, CDC and the Cystic Fibrosis Foundation cosponsored a workshop to review the benefits and risks associated with newborn screening for cystic fibrosis (CF).
Grosse, Scott D., Boyle, Coleen A., Wilfond, Benjamin S., Rosenfeld, Margaret, Kharrazi, Martin, Comeau, Anne Marie, Botkin, Jeffrey R.   +6 more
core  

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