Results 71 to 80 of about 131,510 (260)

CRISPR/Cas9 editing of the MYO7A gene in rhesus macaque embryos to generate a primate model of Usher syndrome type 1B

Scientific Reports, 2022
Mutations in the MYO7A gene lead to Usher syndrome type 1B (USH1B), a disease characterized by congenital deafness, vision loss, and balance impairment.
Junghyun Ryu, John P. Statz, William Chan, Fernanda C. Burch, John V. Brigande, Beth Kempton, Edward V. Porsov, Lauren Renner, Trevor McGill, Benjamin J. Burwitz, Carol B. Hanna, Martha Neuringer, Jon D. Hennebold   +12 more
doaj   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Breastfeeding, Malta 2002 [PDF]

, 2002
Although the scientific and economic benefits in support of breastfeeding over formula feeds is overwhelming, Malta retains one of the lowest rates for breastfeeding in almost all developed and several under-developed countries.
Attard Montalto, Simon
core  

Marketing Mothers\u27 Milk: The Commodification of Breastfeeding and the New Markets for Breast Milk and Infant Formula [PDF]

, 2009
Today, breastfeeding, human breast milk, and its substitute, infant formula, are commodities. Mothers\u27 milk is marketed both literally and figuratively, as a good for sale, a normative behavior, and a cure for much of what ails twenty-first century ...
Fentiman, Linda C
core   +3 more sources

Psychological Impact of Autism Screening on Caregivers

Autism Research, EarlyView.
ABSTRACT Autism screening in childhood is common, yet little is known about its potential psychological impact on caregivers. The U.S. Preventive Services Task Force, an independent national panel of disease prevention experts, stated that this gap in knowledge limited their ability to endorse universal autism screening.
Ramkumar Aishworiya, Devon Gangi, Van Kim Ma, Chandni Parikh, Nor Azyati Yusoff, Narueporn Likhitweerawong, Sally Ozonoff   +6 more
wiley   +1 more source

Pentoxifylline dose finding trial in preterm neonates with suspected late onset sepsis (PTX‐trial)

British Journal of Clinical Pharmacology, EarlyView.
Aim The aim of this study (PTX‐trial) is to determine the optimal dose of pentoxifylline (PTX) in preterm neonates (gestational age < 30 weeks) with (suspected) late onset sepsis (LONS). Methods The PTX‐trial is a prospective multicentre open‐label sequential dose‐optimization study with an adapted continual reassessment method.
Serife Kurul, H. Rob Taal, Jan Mazela, Ryszard Lauterbach, Irwin K. M. Reiss, Karel Allegaert, Robert B. Flint, Sinno H. P. Simons   +7 more
wiley   +1 more source

Late-Onset Sepsis in a Premature Infant Mediated by Breast Milk: Mother-to-Infant Transmission of Group B Streptococcus Detected by Whole-Genome Sequencing

Infection and Drug Resistance, 2022
Aiyun Li,1,* Ming Fang,2,* Dongjie Hao,1 Qiaoai Wu,1 Yaqi Qian,1 Hao Xu,3,4 Bo Zhu1 1Department of Clinical Medicine, The Women’s Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, People’s Republic of China; 2Institute of ...
Li A, Fang M, Hao D, Wu Q, Qian Y, Xu H, Zhu B   +6 more
doaj  

NICU Infants & SNHL: Experience of a western Sicily tertiary care centre [PDF]

, 2019
Introduction: The variability of symptoms and signs caused by central nervous system (CNS) lesions make multiple sclerosis difficult to recognize,Introduction: This study adds the evaluation of the independent etiologic factors that may play a role in ...
Abita P, Alberti G, Caminiti F, Gargano R, Gazia F, Longo P, Loteta S   +6 more
core   +1 more source

The decline of 6‐thioguanine nucleotides is not linked to impaired efficacy or safety of thiopurines in pregnant women with inflammatory bowel disease

British Journal of Clinical Pharmacology, EarlyView.
Background Thiopurines are used to maintain remission in inflammatory bowel disease (IBD). These drugs are metabolized into 6‐thioguanine nucleotides (6‐TGN), associated with efficacy, and 6‐methylmercaptopurine ribonucleotides (6‐MMPR), associated with adverse drug reactions. Pregnancy has been linked to a shift in thiopurine metabolism, characterized
Dianne G. Bouwknegt, Paola Mian, Femke Groen, Denise van den Berg‐Zuiddam, Andrea E. van der Meulen, Femke Crouwel, Nanne K. de Boer, Debbie S. Deben, Dennis R. Wong, Luc J. J. Derijks, Gerard Dijkstra, Arno R. Bourgonje, C. Janneke van der Woude, Marijn C. Visschedijk   +13 more
wiley   +1 more source

Enabling precision medicine in neonatology, an integrated repository for preterm birth research. [PDF]

, 2018
Preterm birth, or the delivery of an infant prior to 37 weeks of gestation, is a significant cause of infant morbidity and mortality. In the last decade, the advent and continued development of molecular profiling technologies has enabled researchers to ...
Anderson, Rebecca, Banerjee, Payal, Butte, Atul J, Chappell, Joanne, Chubiz, Jessica, England, Sarah K, Grobman, William, Kim, Mara, Leite, Rita, Liu, Rebecca, March of Dimes Prematurity Research Centers, Parry, Samuel, Quaintance, Cecele C, Rokas, Antonis, Shaw, Gary M, Simpson, Joe Leigh, Sirota, Marina, Thomas, Cristel G, Thomson, Elizabeth, Wong, Ronald J, Zhang, Ge, Zuhl, Maya   +21 more
core   +1 more source