Results 71 to 80 of about 2,136,941 (364)

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

Deciphering transcriptional plasticity in pancreatic ductal adenocarcinoma reveals alterations in sensory neuron innervation

Molecular Oncology, EarlyView.
Pancreatic sensory neurons innervating healthy and PDAC tissue were retrogradely labeled and profiled by single‐cell RNA sequencing. Tumor‐associated innervation showed a dominant neurofilament‐positive subtype, altered mitochondrial gene signatures, and reduced non‐peptidergic neurons.
Elena Genova, Michele Montrone, Uday Rangaswamy, Francesco Diversi, Irene Schiavo, Denise Ferrarini, Roberta Di Florio, Irene Longo, Michele Coscia, Nicola Zamboni, Giorgia Demontis, Lisa Veghini, Vincenzo Corbo, Remo Sanges, Paul Heppenstall   +14 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

Erythropoietin modulates hepatic inflammation, glucose homeostasis, and soluble epoxide hydrolase and epoxides in high‐fat diet‐induced obese mice

FEBS Open Bio, EarlyView.
Erythropoietin administration suppresses hepatic soluble epoxide hydrolase (sEH) expression, leading to increased CYP‐derived epoxides. This is associated with a shift in hepatic macrophage polarization characterized by reduced M1 markers and increased M2 markers, along with reduced hepatic inflammation, suppressed hepatic lipogenesis, and attenuated ...
Takeshi Goda, Satoru Sugimoto, Chiharu Cho, Madoka Konishi, Nozomi Inoue, Satoshi Miyagaki, Yasuhiro Kawabe, Takuro Okamura, Masahide Hamaguchi, Hisakazu Nakajima, Michiaki Fukui, Masakazu Shinohara, Tomoko Iehara   +12 more
wiley   +1 more source

Acute caffeine treatment protects the developing retina from ischemia‐induced cell death

FEBS Open Bio, EarlyView.
Caffeine reduces cell death in the developing retina under ischemia (OGD). This effect does not involve BDNF upregulation or antioxidant pathways (NRF2/VEGF). Neuroprotection occurs mainly through adenosine A2A receptor antagonism, decreasing glutamate release and excitotoxicity, highlighting caffeine's potential as an acute neuroprotective agent in ...
Amanda Alves Nascimento, Danniel Pereira‐Figueiredo, Gabriella Grossi de Lima Dias, Gabriel Ferreira dos Santos, Mariana Rodrigues Pereira, Rafael Brito, Karin C Calaza   +6 more
wiley   +1 more source

Newborn screening for homocystinuria [PDF]

Cochrane Database of Systematic Reviews, 2010
Homocystinuria is a rare inherited disorder due to a deficiency in cystathionine beta synthase. Individuals with this condition appear normal at birth but develop serious complications in childhood. Diagnosis and treatment started sufficiently early in life can effectively prevent or reduce the severity of these complications.
John H, Walter, Nikki, Jahnke, Tracey, Remmington   +2 more
openaire   +4 more sources

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.

American Journal of Human Genetics, 2020
Newborn screening (NBS) was established as a public health program in the 1960s and is crucial for facilitating detection of certain medical conditions in which early intervention can prevent serious, life-threatening health problems.
Tamara S. Roman, Stephanie B. Crowley, M. Roche, A. K. Foreman, Julianne M. O’Daniel, Bryce A. Seifert, Kristy Lee, A. Brandt, C. Gustafson, Daniela M. DeCristo, Natasha T. Strande, L. Ramkissoon, L. Milko, Phillips Owen, Sayanty Roy, M. Xiong, Ryan S. Paquin, Rita M. Butterfield, Megan A. Lewis, Katherine J Souris, D. Bailey, C. Rini, J. Booker, B. Powell, K. Weck, C. Powell, J. Berg   +26 more
semanticscholar   +1 more source

The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China

Orphanet Journal of Rare Diseases
Background The global incidence of Hyperphenylalaninemia (HPA) demonstrates significant geographical variations, exhibiting distinct regional and ethnic characteristics in both phenotypic manifestations and genotypic profiles.
Qiong Wang, Jiang Duan, Xiaolong Zhao, Zhiye Qi   +3 more
doaj   +1 more source

A pilot study of newborn screening for Duchenne muscular dystrophy in Guangzhou

Heliyon, 2022
Background: To estimate the overall situation of Duchenne muscular dystrophy (DMD) screening in newborns in Guangzhou, China. Method: A total of 62553 newborns including 44268 males and 18285 females were screened for DMD by measuring muscle specific ...
Xuefang Jia, Xiang Jiang, Yonglan Huang
doaj   +1 more source

From energy provision to protein synthesis: Tunnelling nanotubes as mediators of intercellular metabolic cooperation in cancer

FEBS Open Bio, EarlyView.
The cytoskeleton‐mediated transport of mitochondria via tunnelling nanotubes restores respiration, increases ATP production, rescues cells from apoptosis, activates the AKT/mTOR signalling pathway, promotes cell migration and invasiveness, contributes to cancer progression and treatment resistance.
Stanislava Martínková, Jan Trnka
wiley   +1 more source