Results 91 to 100 of about 1,407,914 (310)

OTHER TITLE: Annual Report for State Fiscal Year 2011 (July 2010 - June 2011)

, 2011
"December 2011."Gavin, a Mother's Story -- Why Newborn Screening? -- Goals of the Kansas Newborn Screening Program -- Program Overview -- Advisory Council -- A Systems Approach to Newborn Screening -- Newborn Screening Test Results -- Positive ...
Kansas Newborn Screening Program.
core   +1 more source

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism

International Journal of Neonatal Screening
In this study, we evaluated the implementation of a second-tier genetic screening test using an amplicon-based next-generation sequencing (NGS) panel in our laboratory during the period of 1 September 2021 to 31 August 2022 for the newborn screening (NBS)
Toby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, Eric Chun-Yiu Law, Jana Cheung, Tsz Ki Wong, Vincent Wing-Sang Cheng, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, Cheuk Wing Fung, Kiran Moti Belaramani, Anne Mei Kwun Kwok, Kwok Yeung Tsang   +12 more
doaj   +1 more source

Newborn screening for cystic fibrosis - The parent perspective. [PDF]

, 2016
BACKGROUND Newborn screening for CF started 01/2011 in Switzerland. We investigated the parents' opinions about the information received, their feelings, and overall approval of the screening.
Rueegg, Corina S, Fingerhut, R., Moeller, A., Rueegg, C.S., Moeller, Alexander, Jurca, M., Kuehni, C.E., Barben, Jürg, Barben, J., Hafen, Gaudenz M, Fingerhut, Ralph, Kuehni, Claudia E, Hafen, G.M., Jurca, Maja, Barben J, Fingerhut R, Moeller A, Hafen GM, Rueegg CS, Jurca M, Kuehni CE   +20 more
core   +2 more sources

Newborn screening in India

Indian Pediatrics, 2015
Newborn screening for common metabolic and genetic disorders should be an integral part of neonatal care as early detection and treatment can help prevent intellectual and physical defects and life threatening illnesses [1]. The list of conditions for which screening is carried out differs from country to country, based on the prevalence of the ...
openaire   +2 more sources

Real‐Time Holographic Feedback via Mixed Reality Sensorized Laryngoscope Training System Enhances Pediatric Intubation Training

Advanced Robotics Research, EarlyView.
We proposed a Mixed Reality Sensorized Laryngoscope Training System to provide real‐time holographic torque feedback during pediatric endotracheal intubation simulation. Visualization formats are evaluated to reduce tracking error and visual demand.
Jiaqi Li, Ryman Hashem, Ningzhe Hou, Perla Maiolino, Louis Halamek, Liang He   +5 more
wiley   +1 more source

The First Results of Extended Newborn Screening in Slovakia—Differences between the Majority and the Roma Ethnic Group

International Journal of Neonatal Screening, 2017
The authors present the first results of the National Extended Newborn Screening (ENS) in Slovakia in the majority (M) and the Roma (R) ethnic populations.
Svetozár Dluholucký, Mária Knapková
doaj   +1 more source

Newborn screening for homocystinuria

Early Human Development, 1997
It is becoming increasingly apparent that pyridoxine responsive homocystinuria patients are being missed by newborn screening programs. The possibility that screening for homocystine, rather than the methionine, might be more effective was investigated by comparing homocystine and methionine levels of non-responsive patients at diagnosis.
S E, Snyderman, C, Sansaricq
openaire   +2 more sources

An Anti‐Amyloidogenic Approach to Specifically Block Memory Consolidation in Mice for Therapeutic Intervention

Advanced Science, EarlyView.
Functional amyloid conversion of the translation regulator CPEB3 is essential for long‐term memory persistence. This study demonstrates that targeting this molecular switch with the anti‐amyloidogenic peptide QBP1 selectively blocks CPEB3 fibrillation without disrupting phase separation.
Paula López‐García, Kerry R. McGreevy, Maria Eugenia Vaquero, Juan M. Suarez‐Rivero, Antonio Moreno‐Rodríguez, Antonio J. Pérez‐Pulido, Daniel Ramírez de Mingo, Anna Pallé, Helena Akiko Popiel, Andrea Santi, Mario D. Cordero, José Luis Trejo, Yoshitaka Nagai, Mariano Carrión‐Vázquez   +13 more
wiley   +1 more source

American College of Medical Genetics and Genomics ACT Sheets Are a Vital Resource for State Newborn Screening Programs

International Journal of Neonatal Screening
The American College of Medical Genetics and Genomics (ACMG) and the National Coordinating Center for the Regional Genetics Networks (NCC)-developed ACT sheets are a vital resource for state newborn screening (NBS) programs. They allow NBS programs to be
Virginia Sack, Sara Etienne, Grace Beal, Sarah Bradley, Michele Caggana   +4 more
doaj   +1 more source

Charting Endocrine Progenitors Across Species and Organs

Advanced Science, EarlyView.
Endocrine progenitors give rise to the hormone‐producing cells of the pancreas and intestine. Using single‐cell multiomics and proteomics, this study compares these progenitors across species, systems, and organs, mapping the conserved and species‐specific gene regulatory networks that guide their formation.
Changying Jing, Michael Sterr, Özüm Sehnaz Caliskan, Lama Saber, Nicole Katarina Rogers, Samuel Ogden, Kei Kozawa, Christos Karampelias, Jessica Jaki, Aimée Bastidas‐Ponce, Falk Janos Farkas, Oliver Czarnecki, Osvaldo Rodrigues Pereira, Perla Cota, Valerie Vandenbempt, Diego Balboa, Anika Böttcher, Natalie Krahmer, Mohammad Lotfollahi, Julie B. Sneddon, Heiko Lickert, Mostafa Bakhti   +21 more
wiley   +1 more source