Results 41 to 50 of about 148,879 (306)

Congenital hypothyroidism after newborn screening program reorganization in the Apulia region

Italian Journal of Pediatrics, 2022
Background Congenital hypothyroidism (CH) is the most frequent congenital endocrine disorder. The purpose of the present study was to evaluate the incidence and etiological classification of CH in Apulia in a three-year period according to the ...
Simonetta Simonetti, Gabriele D’Amato, Benedetta Esposito, Mariangela Chiarito, Domenico Dentico, Tania Lorè, Roberta Cardinali, Silvia Russo, Nicola Laforgia, Maria Felicia Faienza   +9 more
doaj   +1 more source

Sensitive and Robust LC-MS/MS Assay to Quantify 25-Hydroxyvitamin D in Leftover Protein Extract from Dried Blood Spots

International Journal of Neonatal Screening, 2021
Neonatal dried blood spots (DBS) provide a remarkable resource for biobanks. These microsamples can provide information related to the genetic correlates of disease and can be used to quantify a range of analytes, such as proteins and small molecules ...
Sanne Grundvad Boelt, Lars Melgaard, Marta Jadwiga Thorbek, Nadia Sara Jensen MacSween, John J. McGrath, Arieh S. Cohen   +5 more
doaj   +1 more source

ISNS General Guidelines for Neonatal Bloodspot Screening 2025 [PDF]

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   +1 more source

Clinical, Histopathological, and Molecular Characterization of Pediatric MN1::ZNF341‐Associated Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT A lethal round‐cell malignancy with an MN1::ZNF341 fusion has recently been reported in three infants. Here, we describe four further tumors, three in newborns (including monozygotic twins), and one in an adolescent. Detailed clinical, radiological, and histopathological data differentiate these tumors from their main mimics, neuroblastoma and
Thomas R. W. Oliver, Dyanne Rampling, Barbara Walkowiak, Nathaniel D. Anderson, Manas Dave, Henry Lee‐Six, Sadie Baskind, Pooja Balasubramanian, Glenn Anderson, Conor Parks, Toochi Ogbonnah, Emilia R. Robertson, Simon Hannam, Rohan Verma, John C. Achermann, Liina Palm, Neil Sebire, Thomas Jacques, Tom Watson, Carryl Dryden, Karin Straathof, Mette Jorgensen, Olga Slater, Sam Behjati, Sarita Depani, J. Ciaran Hutchinson   +25 more
wiley   +1 more source

National performance indicators to support neonatal hearing screening in Australia [PDF]

, 2013
This paper presents a set of performance indicators for monitoring neonatal hearing screening activity in Australia at a national level, to help measure how well neonatal hearing screening is achieving its aims.SummaryEach year in Australia ...

core  

Solid Pseudopapillary Neoplasm of the Pancreas in Children and Adolescents: Expert Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Solid pseudopapillary neoplasm of the pancreas (SPN) is a rare low‐grade malignant exocrine pancreatic tumor, mostly discovered during the second decade of life in females, with a very good prognosis, provided microscopically complete surgical excision is achieved.
Sabine Irtan, Michael Abele, Calogero Virgone, Michaela Kuhlen, Ricardo Lopez‐Almarez, Tal Ben‐Ami, Ewa Bien, Maja Cesen, Malgorzata A. Krawczyk, Andrea Ferrari, Gianni Bisogno, Yves Reguerre, Dominik T. Schneider, Louise Galmiche, Jorg Fuchs, Sarah Braungart, Bilgehan Yalcin, Ines B. Brecht, Daniel Orbach   +18 more
wiley   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

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

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