International Journal of Neonatal Screening

We are pleased to share that the International Journal of Neonatal Screening (IJNS) was awarded an increased Impact Factor of 4.0 in the 2023 Journal Citation Reports™ released by Clarivate in June 2024. IJNS ranks in Q1 (12 among 186 titles) in “PEDIATRICS” and Q1 (40 among 191 titles) in “GENETICS & HEREDITY”.   Additionally, according to data released by Scopus (Elsevier), IJNS received an updated CiteScore™ of 6.7, an increase of 34% compared with the 2021 metric. IJNS’s CiteScore ranks as follows: Q1 (32 out of 330 journals) in "Pediatrics, Perinatology and Child Health"  Q1 (25 out of 209 journals) in "Obstetrics and Gynecology"  Q1 (4 out of 29 journals) in "Immunology and Microbiology (miscellaneous)" For further statistics, please visit https://lnkd.in/dumwUUrq.

Three incidents that impacted two #US #newbornscreening (#NBS) programs highlight the importance of contingency planning for the continuity of operations (COOP). Other NBS programs may benefit from the experience of these state programs for their own contingency planning efforts. Dorley et al. detail the strengths, weaknesses, improvements needed, and future actions that will assist in preparing for other incidents as lessons learned: Continuity of Operations in Newborn Screening: Lessons Learned from Three Incidents https://lnkd.in/dWfbZ-J8

MDPI is pleased to invite nominations for the prestigious "Tu Youyou Award," established in 2016 to celebrate the extraordinary achievements of Professor Tu Youyou. Awarded the Nobel Prize in Physiology or Medicine in 2015, Professor Tu's groundbreaking discovery of artemisinin has revolutionized malaria treatment, saving millions of lives globally. 🌍 In honor of her remarkable contributions, this award seeks to recognize exceptional scholars who have made significant advancements in natural products chemistry and medicinal chemistry. ✅The winner(s) will be awarded a total of 100,000 CHF prize money. ✅Scientists with outstanding achievements in natural products chemistry and medicinal chemistry are eligible for nomination. ✅Only nominations from Research Institutions, Universities and Academic Societies will be accepted. Personal nominations will not. Join us in celebrating and continuing the legacy of Professor Tu Youyou by nominating distinguished researchers who have made impactful contributions to the field. Together, let’s honor those who push the boundaries of science and contribute to global health advancements. For more information on the nomination process and deadlines, please visit: https://brnw.ch/21wLAMI #MDPI #TuYouyouAward #MDPIAwards #NaturalProductsChemistry #MedicinalChemistry #ScientificExcellence #GlobalHealth #NobelPrize #Artemisinin #MalariaResearch #InnovationInScience

Utah was the first state in the #UnitedStates to implement population-wide state #newbornscreening for spinal muscular atrophy (#SMA). From 2018 to 2023, a total of 239,844 infants were screened. Wong & colleagues describe it a newly published review: A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned https://lnkd.in/dGQMUJNB

Methylmalonyl-CoA epimerase enzyme (#MCEE) is responsible for catalyzing the isomeric conversion between D- and L-methylmalonyl-CoA, an intermediate along the conversion of propionyl-CoA to succinyl-CoA. A dedicated test for MCEE deficiency is not included in the #newbornscreening (#NBS) panels but it can be incidentally identified when investigating methylmalonic acidemia and propionic acidemia. Maines & colleague report for the first time the biochemical description of a case detected by NBS: Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report https://lnkd.in/dr6GuUW2

Neonatal screening for #CongenitalHypothyroidism is a milestone in the prevention of severe neurological sequelae, enabling the timely identification and treatment of affected newborns. Teixeira Palla Braga & colleagues evaluated the impact of reducing the blood-spot TSH cut-off (b-TSH) from 10 (Group 2) to 6 mIU/L (Group 1) in a public #neonatalscreening program: Impact of Lowering TSH Cut-Off on Neonatal Screening for Congenital Hypothyroidism in Minas Gerais, Brazil https://lnkd.in/du72jW-H #newbornscreening

Spinal muscular atrophy (#SMA) was added to the HHS Secretary’s Recommended Uniform Screening Panel for #newbornscreening (#NBS) in 2018, enabling early diagnosis and treatment of impacted infants to prevent irreversible motor neuron damage. Lee & colleagues describe the efforts to facilitate the full implementation of SMA screening in all 50 U.S. states in February 2024: CDC’s Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy https://lnkd.in/g6snWSjc

Šimić & colleagues present the results of the #SMA #NBS during the one-year pilot project in #Croatia and verify the suitability of the Targeted qPCR™ SMA assay for SMA NBS: One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia https://lnkd.in/dgTgJAdK #newbornscreening #SpinalMuscularAtrophy

Spinal muscular atrophy (#SMA) is a genetic neuromuscular disorder causing the degeneration of motor neurons in the spinal cord. Recent studies suggest greater effectiveness of treatment in the presymptomatic stage. The systematic review by Cooper et al. synthesises findings from 37 studies (and 3 overviews) of #newbornscreening for SMA published up to November 2023 across 17 countries to understand the methodologies used; test accuracy performance; and timing, logistics and feasibility of screening: Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy https://lnkd.in/dwu37WNC