Maximilian Zeyda
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View article: Newborn Screening Alone Cannot Prevent Most Cases of Severe Vitamin B12 Deficiency in the First Year of Life
Newborn Screening Alone Cannot Prevent Most Cases of Severe Vitamin B12 Deficiency in the First Year of Life Open
Background/Objectives: Vitamin B12 (B12) is essential for the provision of methyl groups for numerous essential pathways. Infant B12 deficiency (B12D) can lead to severe, even irreversible neurological abnormalities. Maternal B12 status in…
View article: Dried blood spots analysis for targeted and non-targeted exposomics
Dried blood spots analysis for targeted and non-targeted exposomics Open
Dried blood spots (DBS) are an established sample type, widely used in newborn screening programs for monitoring metabolic diseases. Their minimally invasive nature offers great promise for assessing chemical exposures, particularly during…
View article: A direct effect of the hematocrit on blood glucose: Evidence from hypoxia- and erythropoietin-treated mice
A direct effect of the hematocrit on blood glucose: Evidence from hypoxia- and erythropoietin-treated mice Open
Blood glucose is lower in mountain dwellers living under low partial oxygen pressure. We show that obese mice maintained under hypoxia exhibit a delayed but distinct decrease in blood glucose with improved insulin sensitivity, which is ind…
View article: Dried blood spots analysis for targeted and non-targeted exposomics
Dried blood spots analysis for targeted and non-targeted exposomics Open
Dried blood spots (DBS) are an established sample type, widely used in newborn screening programs for monitoring metabolic diseases. Their minimally invasive nature offers great promise for assessing chemical exposures, particularly during…
View article: The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear Open
Vitamin B12 (B12) deficiency (B12D) can have detrimental effects on early growth and development. The Austrian newborn screening (NBS) program targets inborn errors of cobalamin metabolism and also detects B12D. Of 59 included neonates wit…
View article: Macrophage-associated markers of metaflammation are linked to metabolic dysfunction in pediatric obesity
Macrophage-associated markers of metaflammation are linked to metabolic dysfunction in pediatric obesity Open
MAFLD and other metabolic disorders in pediatric patients with obesity are associated with an elevation of adipose tissue macrophage-related inflammation markers.
View article: ATRT-07. CLINICAL APPLICABILITY OF C19MC MIRNA DETECTION IN LIQUID BIOPSIES OF ETMR PATIENTS
ATRT-07. CLINICAL APPLICABILITY OF C19MC MIRNA DETECTION IN LIQUID BIOPSIES OF ETMR PATIENTS Open
Embryonal tumor with multilayered rosettes (ETMR) is a distinct central nervous system tumor entity which is characterized by dysregulation of oncogenic micro RNAs (miRNA). In the majority of cases (approx. 90%), tumors are characterized b…
View article: Clinical applicability of miR517a detection in liquid biopsies of ETMR patients
Clinical applicability of miR517a detection in liquid biopsies of ETMR patients Open
View article: European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance
European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance Open
View article: Plasma Myostatin Increases with Age in Male Youth and Negatively Correlates with Vitamin D in Severe Pediatric Obesity
Plasma Myostatin Increases with Age in Male Youth and Negatively Correlates with Vitamin D in Severe Pediatric Obesity Open
Obesity already causes non-communicable diseases during childhood, but the mechanisms of disease development are insufficiently understood. Myokines such as myostatin and irisin are muscle-derived factors possibly involved in obesity-assoc…
View article: Tryptophan Metabolism Is Associated with BMI and Adipose Tissue Mass and Linked to Metabolic Disease in Pediatric Obesity
Tryptophan Metabolism Is Associated with BMI and Adipose Tissue Mass and Linked to Metabolic Disease in Pediatric Obesity Open
The obesity epidemic has contributed to an escalating prevalence of metabolic diseases in children. Overnutrition leads to increased tryptophan uptake and availability. An association between the induction of the tryptophan catabolic pathw…
View article: Leptin Increases Hepatic Triglyceride Export via a Vagal Mechanism in Humans
Leptin Increases Hepatic Triglyceride Export via a Vagal Mechanism in Humans Open
View article: Supplementary Material for: Risk scores for metabolic dysfunction-associated fatty liver disease in pediatric obesity
Supplementary Material for: Risk scores for metabolic dysfunction-associated fatty liver disease in pediatric obesity Open
Introduction: Early non-invasive detection of incipient liver damage is crucial to prevent long-term adverse health outcomes. A variety of scores to assess liver status have been proposed, mostly for adult populations. Validation of non-in…
View article: Risk Scores for Metabolic Dysfunction-Associated Fatty Liver Disease in Pediatric Obesity
Risk Scores for Metabolic Dysfunction-Associated Fatty Liver Disease in Pediatric Obesity Open
Introduction: Early noninvasive detection of incipient liver damage is crucial to prevent long-term adverse health outcomes. A variety of scores to assess liver status have been proposed, mostly for adult populations. Validat…
View article: Österreichisches Neugeborenen-Screening – Früherkennung von Vitamin-B12-Mangel im Fokus
Österreichisches Neugeborenen-Screening – Früherkennung von Vitamin-B12-Mangel im Fokus Open
Zusammenfassung Das österreichische Neugeborenen-Screening ist seit mehr als 50 Jahren eine sehr erfolgreiche Errungenschaft der Präventivmedizin und wird kontinuierlich an die Entwicklungen von Diagnostika, Therapien und Kenntnissen über …
View article: Circulating microRNAs 34a, 122, and 192 are linked to obesity-associated inflammation and metabolic disease in pediatric patients
Circulating microRNAs 34a, 122, and 192 are linked to obesity-associated inflammation and metabolic disease in pediatric patients Open
Background Obesity-associated chronic low-grade inflammation leads to dysregulation of central lipid and glucose metabolism pathways leading to metabolic disorders. MicroRNAs (miRNAs) are known to control regulators of metabolic homeostasi…
View article: Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 Open
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 tande…
View article: Cystic Fibrosis Newborn Screening in Austria Using PAP and the Numeric Product of PAP and IRT Concentrations as Second-Tier Parameters
Cystic Fibrosis Newborn Screening in Austria Using PAP and the Numeric Product of PAP and IRT Concentrations as Second-Tier Parameters Open
In Austria, newborns have been screened for cystic fibrosis (CF) by analyzing immunoreactive trypsinogen (IRT) from dried blood spots (DBS)s for nearly 20 years. Recently, pancreatitis-associated protein (PAP) analysis was introduced as a …
View article: Gluconeogenesis, But Not Glycogenolysis, Contributes to the Increase in Endogenous Glucose Production by SGLT-2 Inhibition
Gluconeogenesis, But Not Glycogenolysis, Contributes to the Increase in Endogenous Glucose Production by SGLT-2 Inhibition Open
OBJECTIVE Recent studies indicate that sodium-glucose cotransporter 2 (SGLT-2) inhibition increases endogenous glucose production (EGP), potentially counteracting the glucose-lowering potency, and stimulates lipid oxidation and lipolysis. …
View article: A branched‐chain amino acid‐based metabolic score can predict liver fat in children and adolescents with severe obesity
A branched‐chain amino acid‐based metabolic score can predict liver fat in children and adolescents with severe obesity Open
Summary Background Eighty percent of adolescents with severe obesity suffer from non‐alcoholic fatty liver disease (NAFLD). Non‐invasive prediction models have been tested in adults, however, they performed poorly in paediatric populations…
View article: Regulatory landscape of providing information on newborn screening to parents across Europe
Regulatory landscape of providing information on newborn screening to parents across Europe Open
View article: Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns
Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns Open
Early diagnostics and treatment of vitamin B12 deficiency (B12D) in infants, mainly maternally conditioned, is crucial in preventing possible developmental delay and neurological deficits. Currently, B12D is rarely listed in regular newbor…
View article: Impact of osteopontin on the development of non‐alcoholic liver disease and related hepatocellular carcinoma
Impact of osteopontin on the development of non‐alcoholic liver disease and related hepatocellular carcinoma Open
Background & aims Osteopontin, a multifunctional protein and inflammatory cytokine, is overexpressed in adipose tissue and liver in obesity and contributes to the induction of adipose tissue inflammation and non‐alcoholic fatty liver (NAFL…
View article: Brain leptin reduces liver lipids by increasing hepatic triglyceride secretion and lowering lipogenesis
Brain leptin reduces liver lipids by increasing hepatic triglyceride secretion and lowering lipogenesis Open
View article: Antibody-mediated targeting of cleavage-specific OPN-T cell interactions
Antibody-mediated targeting of cleavage-specific OPN-T cell interactions Open
T cells are crucial players in obesity-mediated adipose tissue inflammation. We hypothesized that osteopontin (OPN), an inflammatory protein with enhanced activity when proteolytically cleaved, affects the number of viable T cells in adipo…
View article: Newborn screening for homocystinurias: Recent recommendations versus current practice
Newborn screening for homocystinurias: Recent recommendations versus current practice Open
Purpose To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. Methods Twenty‐two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. …
View article: Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders
Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders Open
Synthetic substrates play a pivotal role in the development of enzyme assays for medical diagnostics. However, the preparation of these chemical tools often requires multistep synthetic procedures complicating structural optimization and l…
View article: 25th Annual Meeting of the German Society of Newborn Screening
25th Annual Meeting of the German Society of Newborn Screening Open
From 15–16 June 2018, the 25th Annual Meeting of the German Society for Newborn Screening (Deutsche Gesellschaft für Neugeborenenscreening, DGNS) was held at the Van Swieten Hall of the Medical University of Vienna, Vienna, Austria. For th…
View article: WS10.3 CF newborn screening in Austria: after 20 years changing the algorithm from IRT/IRT to IRT/PAP/IRT
WS10.3 CF newborn screening in Austria: after 20 years changing the algorithm from IRT/IRT to IRT/PAP/IRT Open
View article: Correction: Corrigendum: Genetic identification of thiosulfate sulfurtransferase as an adipocyte-expressed antidiabetic target in mice selected for leanness
Correction: Corrigendum: Genetic identification of thiosulfate sulfurtransferase as an adipocyte-expressed antidiabetic target in mice selected for leanness Open