Today is International Neonatal Screening Day. The field of newborn screening by mass spectrometry has come a long way in the past few decades, from a handful of metabolites to hundreds. CIL's isotope labeled standards have been used to research new markers for metabolic diseases that today are part of routine testing, and we are committed to helping researchers advance the future of newborn screening. https://lnkd.in/e-EsT5dV #NewbornScreening #MassSpectrometry #laboratorystandards #INSD2024
Cambridge Isotope Laboratories, Inc’s Post
More Relevant Posts
-
I am delighted to share our recent publication on the molecular investigation of Klebsiella pneumoniae at a neonatal intensive care unit of a secondary care maternal and pediatric hospital in Nepal. We document the occurrence of K. pneumoniae strains producing beta-lactamases, mostly extended-spectrum beta-lactamases, and harbouring accessory mechanisms of iron acquisition (the most prominent being yersiniabactin siderophore). Does this overlap between the mechanisms of drug resistance and accessory virulence hold any clinical significance? Also, we report two potential hypervirulent Klebsiella pneumoniae (HvKp) strains. Keeping in mind the high rates of mortality associated with HvKp invasive infections, are the healthcare settings, especially high-risk settings, in resource-limited settings equipped with laboratory infrastructures to promptly detect these strains of concern needed to limit their further spread? #antimicrobialresistance #Klebsiellapneumoniae #neonates #LMIC
To view or add a comment, sign in
-
Learn more about MCA Doppler scans from our "MCA May" series with The TAPS Support Foundation. Why are MCA dopplers so important? Because they are the most reliable, noninvasive way to detect fetal anemia. The Allo Hope Foundation and TAPS Support joined forces to talk about MCA Doppler Ultrasound and why it is so important in the monitoring of both of our diseases. #AlloHopeFoundation #TAPSSupport #FetalAnemia #MCADoppler #HDFN #maternalalloimmunization #tapsawareness
𝐖𝐡𝐚𝐭 𝐢𝐬 𝐌𝐚𝐭𝐞𝐫𝐧𝐚𝐥 𝐀𝐥𝐥𝐨𝐢𝐦𝐦𝐮𝐧𝐢𝐳𝐚𝐭𝐢𝐨𝐧 𝐚𝐧𝐝 𝐇𝐃𝐅𝐍? Maternal alloimmunization occurs when a woman makes red blood cell antibodies after being exposed to a blood type that is different from her own. These antibodies can cross the placenta and attack the unborn child, a disease called Hemolytic Disease of the Fetus and Newborn (HDFN). HDFN can have devastating consequences including anemia, hyperbilirubinemia, and death. With close monitoring and timely treatment, babies with HDFN have a very high survival rate. 𝐖𝐡𝐚𝐭 𝐢𝐬 𝐓𝐀𝐏𝐒? Twin Anemia Polycythemia Sequence is a rare disease affecting twins who share a placenta. Through shared, tiny connections in the placenta, one twin becomes dangerously anemic, and the other twin becomes polycythemic, due to a slow transfer of red blood cells. The only reliable way to detect TAPS is through MCA Doppler. In some cases, other signs can be seen on ultrasound. 𝐖𝐡𝐚𝐭 𝐝𝐨 𝐰𝐞 𝐡𝐚𝐯𝐞 𝐢𝐧 𝐜𝐨𝐦𝐦𝐨𝐧? 𝐅𝐞𝐭𝐚𝐥 𝐀𝐧𝐞𝐦𝐢𝐚, and the need for routine MCA Doppler tests. Learn more as we talk about fetal anemia, MCA Doppler and more in #MCAMay #allohopefoundation #tapssupport #fetalanemia #mcadoppler #hdfn #maternalalloimmunization #tapstwins #twinanemiapolycythemiasequence The Allo Hope Foundation Fetal Therapy LUMC, Leiden
To view or add a comment, sign in
-
-
𝐖𝐡𝐚𝐭 𝐢𝐬 𝐌𝐚𝐭𝐞𝐫𝐧𝐚𝐥 𝐀𝐥𝐥𝐨𝐢𝐦𝐦𝐮𝐧𝐢𝐳𝐚𝐭𝐢𝐨𝐧 𝐚𝐧𝐝 𝐇𝐃𝐅𝐍? Maternal alloimmunization occurs when a woman makes red blood cell antibodies after being exposed to a blood type that is different from her own. These antibodies can cross the placenta and attack the unborn child, a disease called Hemolytic Disease of the Fetus and Newborn (HDFN). HDFN can have devastating consequences including anemia, hyperbilirubinemia, and death. With close monitoring and timely treatment, babies with HDFN have a very high survival rate. 𝐖𝐡𝐚𝐭 𝐢𝐬 𝐓𝐀𝐏𝐒? Twin Anemia Polycythemia Sequence is a rare disease affecting twins who share a placenta. Through shared, tiny connections in the placenta, one twin becomes dangerously anemic, and the other twin becomes polycythemic, due to a slow transfer of red blood cells. The only reliable way to detect TAPS is through MCA Doppler. In some cases, other signs can be seen on ultrasound. 𝐖𝐡𝐚𝐭 𝐝𝐨 𝐰𝐞 𝐡𝐚𝐯𝐞 𝐢𝐧 𝐜𝐨𝐦𝐦𝐨𝐧? 𝐅𝐞𝐭𝐚𝐥 𝐀𝐧𝐞𝐦𝐢𝐚, and the need for routine MCA Doppler tests. Learn more as we talk about fetal anemia, MCA Doppler and more in #MCAMay #allohopefoundation #tapssupport #fetalanemia #mcadoppler #hdfn #maternalalloimmunization #tapstwins #twinanemiapolycythemiasequence The Allo Hope Foundation Fetal Therapy LUMC, Leiden
To view or add a comment, sign in
-
-
Check out our new study in Metabolites MDPI on the association of #MaternalAge and blood markers for metabolic disorders in healthy babies, with implications for improving newborn screening for #RareDiseases! https://lnkd.in/egb5h-A2
To view or add a comment, sign in
-
Spinal muscular atrophy (SMA) can have a devastating impact on the babies and families affected. Without treatment, it is the leading genetic cause of infant death in the UK; early detection and intervention on the other hand can drastically change outcomes. Despite this, SMA is not currently included within the Newborn Screening Programme in the UK. Developed with experts from across the SMA and rare disease communities, the Every Moment Matters report explores the potential benefits newborn screening for SMA could bring, both to the individuals and families affected, and to the UK's wider rare disease and life sciences ambitions. Read the report and recommendations here: https://lnkd.in/eznXsf9R #NovartisOK
Every Moment Matters
novartis.com
To view or add a comment, sign in
-
Authors studied 138,856 pediatric transfusions and 402 ATR reports. Data were dissected at 3 levels: pediatric (total), pediatric developmental stage, and chronological age to identify patients at high risk of ATRs. Risk factors were assessed by multivariate logistic regression. Blood Transfus 2023; 21: 428-436 doi: 10.2450/2022.0178-22 (https://lnkd.in/di7zPH2P) @Wen-Hua Wei; @Gavin Cho; Meredith Smith; Sarah Morley #adversetransfusionreaction, #allergicreaction, #hemovigilance, #pediatrictransfusion, #risk
To view or add a comment, sign in
-
-
Catheter ablation for AF was associated with reduced risk of HF events in patients with HFrEF but had limited or no benefit in HFpEF. https://ja.ma/4eiGQjk
Atrial Fibrillation Ablation in Heart Failure With Reduced vs Preserved Ejection Fraction
jamanetwork.com
To view or add a comment, sign in
-
Incredibly important manuscript on the need for universal screening for congenital hyperinsulinism. Please read this post, the Journal of Clinical Medicine article, and my blog about the article, all in the post from Congenital Hyperinsulinism International: "I am just thrilled there are neonatologists and perinatologists who, through their publication, are communicating to others in their field about this key issue. These physicians recognize and have now published vital information about how not performing a very simple and inexpensive test leads to lifelong disability for a significant portion of babies born with HI." You find my analysis as well as the paper at https://lnkd.in/eR5hBZ3i
NEW! CHI Collaborative Research Network (CRN) member and neonatologist Jeff Kaiser includes CHI’s HI Global Registry (HIGR) data in an important paper in the Journal of Clinical Medicine, "Proposed Screening for Congenital Hyperinsulinism in Newborns: Perspective from a Neonatal–Perinatal Medicine Group.” CHI COE Julie Raskin shared her thoughts on this collaboration in our blog post: "I am just thrilled there are neonatologists and perinatologists who, through their publication, are communicating to others in their field about this key issue. These physicians recognize and have now published vital information about how not performing a very simple and inexpensive test leads to lifelong disability for a significant portion of babies born with HI." You find Julie's full analysis as well as the paper at https://lnkd.in/eR5hBZ3i #hyperinsulinism #raredisease #congenitalhyperinsulinism #hypoglycemia | Hyperinsulinism | Congenital | HI | Hypoglycemia | Rare Disease
To view or add a comment, sign in
-
-
Metachromatic leukodystrophy (MLD) is a fatal inherited lysosomal storage disease that can be detected through newborn bloodspot screening. The feasibility of the screening assay and the clinical rationale for screening for MLD have been previously demonstrated, so the aim the newly published study by Bean et al. is to determine whether the addition of screening for MLD to the routine #newbornscreening program in the #UK is a cost-effective use of National Health Service (NHS) resources: Exploring the Cost-Effectiveness of Newborn Screening for #MetachromaticLeukodystrophy (#MLD) in the UK https://lnkd.in/ds4Ytgxd
Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK
mdpi.com
To view or add a comment, sign in
-
NEW! CHI Collaborative Research Network (CRN) member and neonatologist Jeff Kaiser includes CHI’s HI Global Registry (HIGR) data in an important paper in the Journal of Clinical Medicine, "Proposed Screening for Congenital Hyperinsulinism in Newborns: Perspective from a Neonatal–Perinatal Medicine Group.” CHI COE Julie Raskin shared her thoughts on this collaboration in our blog post: "I am just thrilled there are neonatologists and perinatologists who, through their publication, are communicating to others in their field about this key issue. These physicians recognize and have now published vital information about how not performing a very simple and inexpensive test leads to lifelong disability for a significant portion of babies born with HI." You find Julie's full analysis as well as the paper at https://lnkd.in/eR5hBZ3i #hyperinsulinism #raredisease #congenitalhyperinsulinism #hypoglycemia | Hyperinsulinism | Congenital | HI | Hypoglycemia | Rare Disease
To view or add a comment, sign in
-