Results 41 to 50 of about 1,512,894 (302)

Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening

Frontiers in Genetics, 2019
Short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is an autosomal recessive disorder of impaired isoleucine catabolism caused by mutations in the ACADSB gene.
Yiming Lin, Hongzhi Gao, Chunmei Lin, Yanru Chen, Shuang Zhou, Weihua Lin, Zhenzhu Zheng, Xiaoqing Li, Min Li, Qingliu Fu   +9 more
doaj   +1 more source

Anticipated regret to increase uptake of colorectal cancer screening (ARTICS):a randomised controlled trial [PDF]

, 2015
Screening is important for early detection of colorectal cancer. Our aim was to determine whether a simple anticipated regret (AR) intervention could increase uptake of colorectal cancer screening. A randomised controlled trial of a simple, questionnaire-
Brownlee, Linda A., Steele, Robert J. C., O'Carroll, Ronan E., Steele, Robert, Chambers, Julie A., Chambers, Julie, Brownlee, Linda, Libby, Gillian, Steele, Robert J.C., O'Carroll, Ronan   +9 more
core   +1 more source

Safety and Effectiveness of a High‐Dose, Tailored Tissue Plasminogen Activator Therapy Protocol: A Joint Pediatric Hematology and Cardiac ICU Quality Improvement Initiative Analysis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric thromboembolism is increasingly encountered in critical care. Systemic thrombolysis with tissue plasminogen activator (tPA) facilitates vessel or valve patency, yet pediatric‐specific protocols remain undefined, and safety concerns persist. Objective To evaluate the efficacy and safety of a tailored, prolonged systemic tPA
Eran Shostak, Oded Gilad, Yael Feinstein, Sigal Nakav, Ofer Schiller, Joanne Yacobovich   +5 more
wiley   +1 more source

ISNS General Guidelines for Neonatal Bloodspot Screening 2025

Part of the vision of the ISNS is ‘to enhance the quality of neonatal screening and medical services through dissemination of information, guidelines and best practices.’ Although newborn screening encompasses testing in the newborn period ...
Howell, R, Rodney, James R. Bonham, Howell, R. Rodney, Cabello, Juan, Gaviglio, Amy, Østrup, Jan, Abdoh, Ghassan, Layachi Chabraoui, Amy Gaviglio, Ghassan Abdoh, Dianne Webster, Baker, Mei, Cheillan, David, Webster, Dianne, Schielen, Peter, C J I, Aysha Habib Khan, Dimitris Platis, Roberto Giugliani, Schielen, Peter C.J.I., Juan Cabello, Chabraoui, Layachi, Giugliani, Roberto, Platis, Dimitris, David Cheillan, Khan, Aysha Habib, Peter C. J. I. Schielen, Jan Østrup, Bonham, James R., Mei Baker, Khan, Aysha, Habib, Bonham, James, R, R. Rodney Howell   +31 more
core   +2 more sources

Genetic regulation of spermine oxidase activity and cancer risk: a Mendelian randomization study

Scientific Reports, 2021
Spermine oxidase (SMOX) catalyzes the oxidation of spermine to spermidine. Observational studies have reported SMOX as a source of reactive oxygen species associated with cancer, implying that inhibition of SMOX could be a target for chemoprevention ...
João Fadista, Victor Yakimov, Urmo Võsa, Christine S. Hansen, Silva Kasela, Line Skotte, Frank Geller, Julie Courraud, Tõnu Esko, Viktorija Kukuškina, Alfonso Buil, Mads Melbye, Thomas M. Werge, David M. Hougaard, Lili Milani, Jonas Bybjerg-Grauholm, Arieh S. Cohen, Bjarke Feenstra   +17 more
doaj   +1 more source

Neonatal haemoglobinopathy screening in Belgium

Journal of Clinical Pathology, 2008
Background: A neonatal haemoglobinopathy screening programme was implemented in Brussels more than a decade ago and in Liège 5 years ago; the programme was adapted to the local situation. Methods: Neonatal screening for ...
Gulbis, Béatrice, Cotton, Frédéric, Ferster, Alina, Ketelslegers, O, Dresse, Marie-Françoise, Ronge, Elisabeth, Minon, J M, Lê, Phu Quoc, Vertongen, Françoise   +8 more
openaire   +4 more sources

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

Engineering peptides into antibodies—opportunities and strategies for therapeutic innovation

FEBS Letters, EarlyView.
Peptides and antibodies occupy complementary therapeutic niches. Peptides recognize difficult targets in a compact format, while antibodies add specificity, long half‐life, and effector functions. This review examines strategies that merge both modalities—peptide grafting into loops, terminal and Fc fusions, and bioconjugation—highlighting how ...
Jinling Wang, Ruslana Romaniuk, Hristo L. Svilenov   +2 more
wiley   +1 more source

Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis

Orphanet Journal of Rare Diseases
Background Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive organic acidaemia. This paper aimed to describe the clinical, biochemical and molecular features of four Chinese patients with HLCS deficiency, and to research the novel ...
Zhenzhu Zheng, Weilin Peng, Yiming Lin, Weihua Lin, Gaoxiong Wang   +4 more
doaj   +1 more source

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

FEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee, Mingming Tong, Anna L. Gloyn   +2 more
wiley   +1 more source