Results 31 to 40 of about 1,407,914 (310)

Integration of new genetic diseases into statewide newborn screening: New England experience

, 2012
Using a data set of newborn screening specimens tested by the New England Newborn Screening Program (NENSP) between January 1999 and February 2003, we analyzed the number of infants with positive newborn screening results and determined how many positive
Larson, Cecilia A., Comeau, Anne Marie, Eaton, Roger B.   +2 more
core   +1 more source

Bone and Soft Tissue Neoplasms in Infants Versus Older Children: A Report From the Cancer in Young People in Canada Program

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background and Aims Infant bone and soft tissue neoplasms present distinct clinical challenges and lack large‐scale data to inform treatment decisions. This study aims to characterize bone and soft tissue neoplasms in infants in Canada and to compare their outcomes with those of older pediatric patients.
Samuel Sassine, Hallie Coltin, Maria Kondyli, Monia Marzouki, Nicolas Prud'homme, Nida Usmani, Rebecca J. Deyell, Lesleigh Abbott, Tony H. Truong, Sapna Oberoi, Ketan Kulkarni, Josée Brossard, Lynette Bowes, Paul Gibson, Sarah McKillop, Roona Sinha, Lillian Sung, Catherine Vezina, Laura Wheaton, Alexandra P. Zorzi, Marie‐Claude Pelland‐Marcotte, Thai Hoa Tran   +21 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

Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency

, 2012
Severe combined immunodeficiency (SCID) is a Primary Immune Deficiency that is under consideration for population-based newborn screening (NBS) by many NBS programs, and has recently been recommended for inclusion in the US uniform panel of newborn ...
Pai, Sung-Yun, DeMaria, Alfred, Meissner, H. Cody, Bonilla, Francisco A., Cooper, Ellen Rae, Pasternack, Mark S., Notarangelo, Luigi D., Sahai, Inderneel, Comeau, Anne Marie, Hale, Jaime E, Eaton, Roger B.   +10 more
core   +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

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

Therapeutic Apheresis in Nigeria: A Multi‐Center Summary of Abstracts From the Inaugural Nigerian Society for Apheresis Scientific Meeting

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Therapeutic apheresis (TA) is an established treatment modality for hematologic, neurologic, and immunologic disorders, yet access remains severely limited in sub‐Saharan Africa. Donor apheresis, including platelet apheresis collection from healthy donors, represents an important complementary modality supporting blood product ...
Nosa Bazuaye, Chimezie Okwuonu, Evelyn Idam, Folasade Adelekan‐Popoola, Shakirat Gold‐Olufadi, Olufunto Olufela Kalejaiye, Abdullateef Ogala, Zinnah Aloziem, Blossom Amamchukwu, Patience Elimia, Mkpoikanabasi Obot‐Obot, Henry Mbakwe, Praises Maduagwuna, Olatunji Akinrodoye, Chiamaka Anyanwu, Benjamin Anyanwu, Adedamola Akinsiku, Oluwatoyin A. Akinsiku, Muzamil O. Hassan, Fatiu A. Arogundade, Olalekan E. Ojo, Homayemem Weli, Jesupelumi Adenihun, Aderemi Adelaja, Ebun Bamgboye, Olalekan Olatise, Ade E. Faponle, Ayoola Odeyemi, Michael Muoka, Stephen Asaolu, Qudrat Busari, Blessing Dawudu, Michael Naiyeju, Rasheed A. Balogun   +33 more
wiley   +1 more source

Newborn Screening for Glutaric Aciduria-II: The New England Experience

, 2015
Newborn screening (NBS) using tandem mass spectrometry (MS/MS) permits detection of neonates with Glutaric Aciduria-Type II (GA-II). We report follow-up of positive GA-II screens by the New England Newborn Screening Program.
Neilan, E., James, P., Sweetser, D. A., Garganta, C. L., Sahai, Inderneel, Zytkovicz, Thomas H., Phornphutkul, C., Levy, H. L., Martin, M., Bailey, J., Eaton, Roger B.   +10 more
core   +1 more source

Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance [PDF]

, 2018
Newborn screening (NBS) identifies infants with rare conditions to prevent death or the onset of irreversible morbidities. Conditions on the Health and Human Services Secretary’s Recommended Uniform Screening Panel have been adopted by most state ...
Kathryn Hassell, Susan R. Rose, Cynthia Hinton, Marci K. Sontag, Kupper A. Wintergerst, Ojodu, Jelili, Careema Yusuf, Rose, Susan R., Sikha Singh, Cynthia F. Hinton, Deboshree Sarkar, Smith-Whitley, Kim, Yusuf, Careema, Copeland, Sara, Parad, Richard, Lorenzo D. Botto, Marci K. Sontag, Cynthia F. Hinton, Sontag, Marci K., Singh, Sikha, Lorenzo D. Botto, Sara Copeland, Susan Rose, Hinton, Cynthia F., Anne M. Comeau, Botto, Lorenzo D., Comeau, Anne M., Kim Smith-Whitley, Jelili Ojodu, Marci Sontag, Anne M. Comeau, Richard Parad, Lorenzo Botto, Sarkar, Deboshree, Hassell, Kathryn, Kupper Wintergerst, Kupper A. Wintergerst, Susan R. Rose, Comeau, Anne Marie, Wintergerst, Kupper A., Anne Comeau   +40 more
core   +1 more source

The human gut microbiome across the life course

FEBS Letters, EarlyView.
Despite significant individual variation and continuous change throughout life, the human gut microbiome follows some life stage‐specific trends. This article provides a brief overview of how gut microbiome composition shifts across different phases of life. Created in BioRender. Özkurt, E. (2026) https://BioRender.com/8q4nrnc.
Alise J. Ponsero, Basak Bahcivanci, Antonietta Hayhoe, Animesh Acharjee, Ezgi Özkurt   +4 more
wiley   +1 more source