Publications by authors named "Anna Maria Jung"
Background: Turner Syndrome (TS) is a relatively rare X-chromosomal disease with increased cardiovascular morbidity and mortality. This study aimed to identify whether the circulating miR-126-3p/5p are involved in the pathophysiology of vascular dysfunction in TS. Methods: Using the RT-qPCR, the abundance levels of miR-126-3p and miR-126-5p were determined in 33 TS patients and 33 age-matched healthy volunteers (HVs).
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- * Infection rates were higher among children with a migrant background, and younger children under three had higher initial seropositivity rates compared to older kids.
- * The findings suggest that serologic testing could give a better estimation of actual infection rates since many cases don't show symptoms, highlighting the importance of understanding infection spread and risks.
Background: To assess (I) the left atrial (LA) size, function and (II) the impact of excess weight on the LA and left ventricular (LV) performance in Turner syndrome (TS) patients.
Methods: Twenty-five TS patients without congenital heart disease (CHD) and 19 healthy, age-matched controls underwent three-dimensional echocardiography (3DE) for LA volume measurements and two-dimensional speckle tracking echocardiography (2DSTE) for LA strain measurements. LV performance was measured through LV Tei-index, indexed isovolumetric contraction (ICT/√RR interval), indexed relaxation (IVRT/√RR interval) and indexed filling time (FT/√RR interval).
Background: Turner syndrome (TS) is a chromosomal disorder, in which a female is partially or entirely missing one of the two X chromosomes, with a prevalence of 1:2500 live female births. The present study aims to identify a circulating microRNA (miRNA) signature for TS patients with and without congenital heart disease (CHD).
Methods: Microarray platform interrogating 2549 miRNAs were used to detect the miRNA abundance levels in the blood of 33 TS patients and 14 age-matched healthy volunteer controls (HVs).
Article Synopsis
- - Turner syndrome (TS) is a chromosomal disorder linked to cardiovascular issues, prompting a study to examine heart function through left ventricular pressure-strain loop (PSL) analysis among TS patients and healthy controls.
- - The study involved 38 TS patients and 19 healthy individuals, revealing no significant differences in global peak systolic strain (GLPS) but identifying higher myocardial work and increased heart rates in TS patients compared to controls.
- - The findings suggest that TS patients experience greater myocardial workload, only noticeable by the new PSL method, and indicate a potential risk for developing left ventricular systolic dysfunction later in life.
Background: Turner syndrome (TS) is a X-chromosomal disease affecting one in 2500-3000 female newborns. TS individuals are at high cardiovascular risk and more likely to be overweight or obese. The aim of this study was to assess left ventricular performance in TS patients through three-dimensional speckle tracking echocardiography (3DSTE) and non-invasive left ventricular pressure-volume loop (PVL) analysis.
View Article and Find Full Text PDFBackground: Turner syndrome (TS) is an X-chromosomal disease affecting one in 2,500-3,000 female newborns. Girls and women with TS show multiple cardiovascular risk factors that all have an impact on arteriosclerosis and thus arterial stiffness. An accurate and non-invasive screening of arterial stiffness is essential to improve the overall outcome in these patients.
View Article and Find Full Text PDFDermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence.
J Dtsch Dermatol Ges
October 2018
With an incidence of 1 in 700 births, Down syndrome (DS) is not an uncommon condition. It is associated with various disorders of different organ systems. Serious disorders include cardiac defects and leukemia.
View Article and Find Full Text PDFDermatologische Aspekte aus der S2k-Leitlinie zum Down-Syndrom im Kindes- und Jugendalter.
J Dtsch Dermatol Ges
October 2018
Das Down-Syndrom (DS) ist mit einer Inzidenz von 1 : 700 aller Geburten nicht selten und mit diversen Erkrankungen unterschiedlicher Organsysteme assoziiert. Zu den schwerwiegenden Erkrankungen zählen Herzfehler und Leukämie. Letztere zeigt sich im Neugeborenenalter und geht nicht immer in eine klassische myeloische Leukämie über (transiente myeloproliferative Erkrankung).
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- - Short stature affects around 3% of children, but 80% of cases remain unexplained due to clinical variability and genetic differences.
- - Recent research found that mutations in the ACAN gene, which is linked to cartilage development, may contribute to idiopathic short stature in some patients.
- - In a study involving 428 families, 1.4% showed ACAN mutations, indicating that these genetic changes could be a common factor in both isolated and inherited cases of short stature.
Article Synopsis
- Growth hormone deficiency (GHD) is treated with recombinant human GH (rhGH), but individual responses to the treatment can differ due to genetic factors.
- Researchers analyzed genetic polymorphisms in 101 pediatric GHD patients to identify variants that might predict how well they respond to rhGH therapy.
- They found significant associations between two specific genetic variations (SNPs) and an exon 3 deletion with the treatment response, suggesting that genetic testing could help personalize GHD treatment.
Background: Neonates with Down syndrome (DS) weigh less, are smaller and have increased first-year mortality, especially if born small for gestational age (GA). DS-specific GA-related neonatal anthropometrics for Germany are lacking.
Objectives: To construct reference tables and centile curves for birth weight (g), crown-heel length (cm) and head circumference (cm) by sex and GA for German DS neonates.