Results 11 to 20 of about 550 (102)

Improvement of dermatological symptoms in patients with Bachmann–Bupp syndrome using difluoromethylornithine treatment

Pediatric Dermatology, 2022
AbstractBachmann–Bupp syndrome (OMIM #619075) is a novel autosomal dominant disorder caused by variants in the c‐terminus of the ornithine decarboxylase 1 gene, resulting in increased levels of ornithine decarboxylase. This case report includes two patients diagnosed with Bachmann–Bupp syndrome who were treated with difluoromethylornithine through ...
Antara Afrin, T. Afshan, Elizabeth VanSickle, Julianne Michael, Rachel Laarman, Caleb Bupp   +5 more
wiley   +4 more sources

Light Water: How the Nuclear Dream Dissolved. By Irvin C. Bupp and Jean-Claude Derian. (New York: Basic Books, 1978. Pp. xii + 241. $10.00.)

Medienimpulse, 1979
Im Folgenden werden drei digitale Spiele vorgestellt, die von der „BuPP – Bundesstelle für die Positivprädikatisierung von digitalen Spielen“ empfohlen wurden. Die BuPP ist eine Einrichtung des Bundeskanzleramts, Sektion Familie und Jugend. Infos zu diesen und weiteren Spielen, die pädagogisch unbedenklich sind, vielfältige Fähigkeiten fördern und Spaß
David Howard Davis
  +6 more sources

Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report [PDF]

BMC Pediatrics, 2023
Background Noonan Syndrome is caused by variants in a variety of genes found in the RAS/MAPK pathway. As more causative genes for Noonan Syndrome have been identified, more phenotype variability has been found, particularly congenital heart defects. Here,
Claudia V. Aniol, Jeremy W. Prokop, Surender Rajasekaran, Spencer Pageau, Sydney K. Elizer, Elizabeth A. VanSickle, Caleb P. Bupp   +6 more
doaj   +2 more sources

Impact of structure and formulation changes on the function of insulin products [PDF]

Frontiers in Endocrinology
Insulin has played an important role in the treatment of diabetes since its discovery in the early 1920s. Initially derived from animal sources, insulin production underwent significant changes with the advent of recombinant DNA technology, allowing for ...
YeonJin Yang, Md. Shahinozzaman, Hyunsu Shin, Sujata Bupp, Carole Sourbier   +4 more
doaj   +2 more sources

Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan’s Project Baby Deer [PDF]

Children, 2023
The integration of precision medicine in the care of hospitalized children is ever evolving. However, access to new genomic diagnostics such as rapid whole genome sequencing (rWGS) is hindered by barriers in implementation.
Caleb P. Bupp, Elizabeth G. Ames, Madison K. Arenchild, Sara Caylor, David P. Dimmock, Joseph D. Fakhoury, Padmani Karna, April Lehman, Cristian I. Meghea, Vinod Misra, Danielle A. Nolan, Jessica O’Shea, Aditi Sharangpani, Linda S. Franck, Andrea Scheurer-Monaghan   +14 more
doaj   +2 more sources

Healthcare Professionals’ Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care [PDF]

Children, 2022
We aimed to characterize knowledge and attitudes about rapid whole genome sequencing (rWGS) implementation of a broad constituency of healthcare professionals at hospitals participating in a statewide initiative to implement rWGS for hospitalized ...
Linda S. Franck, Andrea Scheurer-Monaghan, Caleb P. Bupp, Joseph D. Fakhoury, Thomas J. Hoffmann, Manasi Deshpandey, Madison Arenchild, David P. Dimmock   +7 more
doaj   +2 more sources

Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics [PDF]

Biomolecules, 2023
Insulin is amongst the human genome’s most well-studied genes/proteins due to its connection to metabolic health. Within this article, we review literature and data to build a knowledge base of Insulin (INS) genetics that influence transcription ...
Taylor W. Cook, Amy M. Wilstermann, Jackson T. Mitchell, Nicholas E. Arnold, Surender Rajasekaran, Caleb P. Bupp, Jeremy W. Prokop   +6 more
doaj   +2 more sources

Novel machine learning technique further clarifies unrelated donor selection to optimize transplantation outcomes [PDF]

Blood Advances
: We investigated the impact of donor characteristics on outcomes in allogeneic hematopoietic cell transplantation (HCT) recipients using a novel machine learning approach, the Nonparametric Failure Time Bayesian Additive Regression Trees (NFT BART). NFT
Stephen R. Spellman, Rodney Sparapani, Martin Maiers, Bronwen E. Shaw, Purushottam Laud, Caitrin Bupp, Meilun He, Steven M. Devine, Brent R. Logan   +8 more
doaj   +2 more sources

Donor telomeres and their magnitude of shortening post-allogeneic haematopoietic cell transplant impact survival for patients with early-stage leukaemia or myelodysplastic syndromeResearch in context [PDF]

EBioMedicine
Summary: Background: Donor selection is a key success factor in allogeneic haematopoietic cell transplant (HCT). We evaluated the potential impact of donor leucocyte telomere length (LTL) and LTL shortening in recipients at three-month post-HCT (LTL-3MS)
Shahinaz M. Gadalla, Hormuzd A. Katki, Tsung-Po Lai, Paul L. Auer, Casey L. Dagnall, Caitrin Bupp, Amy A. Hutchinson, James J. Anderson, Kyra J.W. Mendez, Stephen R. Spellman, Valerie Stewart, Sharon A. Savage, Stephanie J. Lee, John E. Levine, Wael Saber, Abraham Aviv   +15 more
doaj   +2 more sources

Matched unrelated vs haploidentical donor hematopoietic cell transplantation using posttransplant cyclophosphamide [PDF]

Blood Advances
: Posttransplant cyclophosphamide (PTCy)-based graft-versus-host disease (GVHD) prophylaxis is now standard for matched unrelated donor (MUD) hematopoietic cell transplantation (HCT). Previous studies comparing MUD and haploidentical donor HCT using PTCy
Dipenkumar Modi, Yosra M. Aljawai, Todd E. DeFor, Caitrin Bupp, Monzr M. Al Malki, Javier Bolaños-Meade, Mahasweta Gooptu, Antonio M. Jimenez Jimenez, Hongtao Liu, Felix A. Mensah, Marco Mielcarek, Brian C. Shaffer, Bronwen E. Shaw, Stephen R. Spellman, Heather E. Stefanski, Jeffery J. Auletta, Steven M. Devine, Farhad Khimani, Ramzi Abboud   +18 more
doaj   +2 more sources