Results 11 to 20 of about 2,257,975 (340)

The Importance of Neonatal Screening for Galactosemia. [PDF]

Nutrients, 2022
Galactosemia is an inborn metabolic disorder caused by a deficient activity in one of the enzymes involved in the metabolism of galactose. The first description of galactosemia in newborns dates from 1908, ever since complex research has been performed ...
Badiu Tișa I, Achim AC, Cozma-Petruț A.   +2 more
europepmc   +2 more sources

Information and Parental Consent for French Neonatal Screening: A Qualitative Study on Parental Opinion. [PDF]

Int J Neonatal Screen, 2023
Neonatal screening has excellent coverage in France. Data from the foreign literature raise questions about the informed consent to this screening. The Neonatal Screening and Informed Consent Dépistage Néonatal Information et Consentement Eclairé (DENICE)
Pinel J, Bellanger A, Jamet C, Moreau C.
europepmc   +2 more sources

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

International Journal of Neonatal Screening, 2021
Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass ...
J. Loeber, Dimitris Platis, R. Zetterström, S. Almashanu, F. Boemer, J. Bonham, P. Borde, Ian Brincat, D. Cheillan, E. Dekkers, Dobry Dimitrov, R. Fingerhut, L. Franzson, U. Grošelj, D. Hougaard, M. Knapkova, M. Kocova, V. Kotori, V. Kožich, A. Kremezna, Riikka Kurkijärvi, G. la Marca, R. Mikelsaar, T. Milenković, V. Mitkin, F. Moldovanu, U. Ceglarek, L. O’Grady, M. Ołtarzewski, R. Pettersen, D. Ramadža, D. Salimbayeva, M. Samardzic, Markhabo Shamsiddinova, J. Songailienė, I. Szatmári, N. Tabatadze, B. Tezel, A. Toromanović, Irina Tovmasyan, N. Usurelu, P. Vēvere, L. Vilarinho, M. Vogazianos, R. Yahyaoui, M. Zeyda, P. Schielen   +46 more
semanticscholar   +1 more source

Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening

European Journal of Pediatrics, 2022
The possibility to identify patients with spinal muscular atrophy through neonatal screenings has highlighted the need for clinical assessments that may systematically evaluate the possible presence of early neurological signs.
M. Pane, M. Donati, C. Cutrona, R. de Sanctis, Matteo Pirinu, G. Coratti, M. Ricci, C. Palermo, B. Berti, D. Leone, C. Ticci, M. Sacchini, Margherita Cerboneschi, A. Capasso, G. Cicala, M. Pera, Chiara Bravetti, E. Abiusi, Alessandro Vaisfeld, G. Vento, F. Tiziano, E. Mercuri   +21 more
semanticscholar   +1 more source

Neonatal Screening for Congenital Metabolic and Endocrine Disorders.

Deutsches Ärzteblatt International, 2021
BACKGROUND The purpose of neonatal screening is the early detection of congenital metabolic and endocrine disorders that, if untreated, could lead to fatal crises or other long-term adverse sequelae.
A. Lüders, O. Blankenstein, I. Brockow, R. Ensenauer, M. Lindner, A. Schulze, U. Nennstiel   +6 more
semanticscholar   +1 more source

Incidence of Neonatal Developmental Dysplasia of the Hip and Late Detection Rates Based on Screening Strategy

JAMA Network Open, 2022
Key Points Question Is universal ultrasonographic screening of developmental dysplasia of the hip associated with detecting more patients and reducing the late operative treatment rates compared with selective ultrasonographic and clinical screening ...
I. Kuitunen, M. Uimonen, M. Haapanen, R. Sund, I. Helenius, V. Ponkilainen   +5 more
semanticscholar   +1 more source

Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis

Clinical and experimental pediatrics, 2020
Phenylketonuria is a disease caused by congenital defects in phenylalanine metabolism that leads to irreversible nerve cell damage. However, its detection in the early days of life can reduce its severity.
H. Shoraka, A. Haghdoost, M. Baneshi, Z. Bagherinezhad, Farzaneh Zolala   +4 more
semanticscholar   +1 more source

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn

BMC Pediatrics, 2020
Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder affecting the carnitine cycle and resulting in defective fatty acid oxidation.
Yiming Lin, Weihua Lin, Yanru Chen, Chunmei Lin, Zhenzhu Zheng, Jianlong Zhuang, Qingliu Fu   +6 more
doaj   +1 more source

Delivery Modality Affect Neonatal Levels of Inflammation, Stress, and Growth Factors

Frontiers in Pediatrics, 2021
Introduction: As part of the study CODIBINE, Correlations and Diagnoses for Biomarkers in New-borns, the main objective of the study was to explore neonatal inflammation, stress, neurodevelopment, and growth factors after in-labor and pre-labor cesarean ...
Pia Kiilerich, Rikke Cortes, Ulrik Lausten-Thomsen, Nis Borbye-Lorenzen, Solveig Holmgaard, Kristin Skogstrand   +5 more
doaj   +1 more source

Chlamydia trachomatis Screening and Treatment in Pregnancy to Reduce Adverse Pregnancy and Neonatal Outcomes: A Review

Frontiers in Public Health, 2021
Chlamydial trachomatis infection has been associated with adverse pregnancy and neonatal outcomes such as premature rupture of membranes, preterm birth, low birth weight, conjunctivitis, and pneumonia in infants. This review evaluates existing literature
K. Adachi, K. Nielsen‐Saines, J. Klausner   +2 more
semanticscholar   +1 more source