A5005394317- Thyroid Disorders and Treatments
- Genetic Associations and Epidemiology
- Hypothalamic control of reproductive hormones
- Stress Responses and Cortisol
- Hormonal and reproductive studies
- Sexual Differentiation and Disorders
- Cystic Fibrosis Research Advances
- Nutrition, Genetics, and Disease
- Adrenal Hormones and Disorders
- Eating Disorders and Behaviors
- Diabetes Management and Research
- Diabetes and associated disorders
- Genetic Syndromes and Imprinting
- Birth, Development, and Health
- Vitamin D Research Studies
- Thyroid Cancer Diagnosis and Treatment
- Genomics and Rare Diseases
- Human Health and Disease
- Health and Lifestyle Studies
- Radiation Dose and Imaging
- Dysphagia Assessment and Management
- Pediatric health and respiratory diseases
- Behavioral Health and Interventions
- Attention Deficit Hyperactivity Disorder
- Genomic variations and chromosomal abnormalities
University of Duisburg-Essen
2020-2025
Helios Universitätsklinikum Wuppertal
2023-2025
Witten/Herdecke University
2023-2025
St. Josef-Hospital
2023-2024
Ruhr University Bochum
2023-2024
Zentrum für Kinderheilkunde
2022-2024
Essen University Hospital
2018-2024
Ruhrlandklinik
2022-2023
Universitätskinderklinik
2021
Friedrich Schiller University Jena
2018
Abstract Individuals with ultrarare disorders pose a structural challenge for healthcare systems since expert clinical knowledge is required to establish diagnoses. In TRANSLATE NAMSE, 3-year prospective study, we evaluated novel diagnostic concept based on multidisciplinary expertise in Germany. Here present the systematic investigation of phenotypic and molecular genetic data 1,577 patients who had undergone exome sequencing were partially analyzed next-generation phenotyping approaches....
Introduction: Recently, cystic fibrosis transmembrane regulator modulator therapy with elexacaftor/tezacaftor/ivacaftor has become available for children (CF) carrying at least one F508del mutation. Objective: To assess the intermediate term effects of in a real-world setting. Methods: We performed retrospective analysis records fibrosis, who started between 8/2020 and 10/2022. Pulmonary function tests, nutritional status, sweat chloride laboratory data were assessed before, 3 6 months after...
Abstract Purpose While observational studies revealed inverse associations between serum vitamin D levels [25(OH)D] and depression, randomized controlled trials (RCT) in children adolescents are lacking. This RCT examined the effect of an untreated deficiency compared to immediate 3 supplementation on depression scores during standard day in-patient psychiatric treatment. Methods Patients with [25(OH)D ≤ 30 nmol/l] at least mild [Beck Depression Inventory II (BDI-II) > 13] ( n = 113) were...
OBJECTIVE The aim of this study was to investigate the frequency newly diagnosed type 1 diabetes without evidence autoimmunity and respective frequencies ketoacidosis in children, adolescents, young adults during coronavirus disease 2019 (COVID-19) pandemic Germany compared with previous decade. RESEARCH DESIGN AND METHODS Based on data from German Diabetes Prospective Follow-up Registry (DPV), we 715 adults, COVID-19 between March 30 June 2020, 5,428 same periods 2011 2019. Adjusted...
A fair number of epidemiological studies suggest that age at menarche (AAM) is associated with depression, but the reported effect sizes are small, and there evidence residual confounding. Moreover, previous Mendelian randomization (MR) to avoid inferential problems inherent have provided mixed findings. To clarify causal relationship between broadly defined depression risk, we used 360 genome-wide significantly AAM-related single-nucleotide polymorphisms (SNPs) as instrumental variable data...
Abstract Very preterm infants are at higher risk of long‐term neurodevelopmental and psychiatric impairments, including anxiety. Prematurity is also linked to altered programming the hypothalamus–pituitary–adrenal (HPA) axis, associated with stress‐related diseases. The cortisol awakening response (CAR), marked by a rapid increase after waking, biomarker HPA reactivity disorders. This study aimed evaluate for first time CAR in adults born very explore its association anxiety stress....
Abstract Background Preexisting epidemiological studies suggest that early pubertal development in males is associated with externalizing (e.g. conduct problems, risky behavior, and aggression) internalizing depression anxiety) traits disorders. However, due to problems inherent observational studies, especially of residual confounding, it remains unclear whether these associations are causal. Mendelian randomization (MR) take advantage the random allocation genes at conception can establish...
Abstract Most individuals with rare diseases initially consult their primary care physician. For a subset of diseases, efficient diagnostic pathways are available. However, ultra-rare often require both expert clinical knowledge and comprehensive genetic diagnostics, which poses structural challenges for public healthcare systems. To address these within Germany, novel structured concept, based on multidisciplinary expertise at established university hospital centers (CRDs), was evaluated in...
Abstract The higher prevalence of attention-deficit/hyperactivity disorder (ADHD) in males raises the question whether testosterone is implicated ADHD risk. However, cross-sectional studies did not identify an association between and levels. Mendelian randomization (MR) can overcome limitations inherent to studies, especially reverse causation residual confounding. In current study, sex-combined sex-specific two-sample MR analyses were conducted address has a causal influence on Sex-combined...
In adults with major depressive disorder (MDD), a dysfunction between the hypothalamus-pituitary-adrenal (HPA) and hypothalamus-pituitary-thyroid (HPT) axis has been shown, but interaction of both axes not yet studied in adolescent (MDD). Data from 273 adolescents diagnosed MDD two single center cross-sectional studies were used for analysis. Serum levels thyrotropin (TSH), free levothyroxine (fT4), cortisol determined as indicators basal HPT HPA functioning compared to that controls by...
In males, the relationship between pubertal timing and depression is understudied less consistent than in females, likely for reasons of unmeasured confounding. To clarify this relationship, a combined epidemiological genetic approach was chosen to exploit methodological advantages both approaches.
The number of children with acute and chronic liver disease is rising. Moreover, involvement may be limited to subtle changes in organ texture especially early childhood some syndromic conditions, such as ciliopathies. Attenuation imaging coefficient (ATI), shear wave elastography (SWE), dispersion (SWD) are emerging ultrasound technologies providing data about attenuation, elasticity, viscosity tissue. This additional qualitative information has been correlated certain pathologies. However,...
While there is a growing body of evidence regarding the behavioral and neurofunctional changes in response to longitudinal delivery transcranial direct current stimulation (tDCS), limited its structural effects. Therefore, present study was intended investigate effect repeatedly applied anodal tDCS over primary somatosensory cortex on gray matter (GM) white (WM) compartment brain. Structural effects were, moreover, related evidenced by functional imaging assessment. course 5 days 25 subjects...
Abstract Background The present study evaluates personality traits in adult patients with cystic fibrosis (CF) and correlates these results health-related quality of life (HRQoL) other clinical parameters indicative disease severity. Methods Seventy adults completed the Cystic Fibrosis Questionnaire-Revised (CFQ-R 14+), a CF-specific measure HRQoL, self-administered questionnaire about disorders. Mean subscale scores prevalence extreme on `Persönlichkeits-Stil- und Störungs-Inventar (PSSI)´...
Abstract There is preliminary evidence that adrenal steroids other than cortisol may be valuable biomarkers for major depressive disorder (MDD). So far, studies have been conducted in adults only, and conclusions are limited, mainly due to small sample sizes. Therefore, the present study assessed whether serve as adolescent MDD. In 261 depressed adolescents (170 females) treated at a single psychiatric hospital, serum (progesterone, 17-hydroxyprogesterone, 21-deoxycortisol, 11-deoxycortisol,...
Increased thermogenesis in brown adipose tissue might have an obesity-reducing effect humans. In transgenic mice, depletion of genes involved creatine metabolism results disrupted thermogenic capacity and altered effects high-fat feeding on body weight. Data analyses a sex-stratified genome-wide association study (GWAS) for mass index (BMI) within the genomic regions this pathway (
Abstract Context Reliable reference values for thyroid ultrasound measurements are essential to effectively guide individual diagnostics and direct health care measures at the population level, such as iodine fortification programs. However, latest total volume (Tvol) provided by WHO in 2004 only apply 6 12-year-old age group limited countries with a long history of sufficiency, which does not reflect situation most European countries, including Germany. Objective The present aims derive up...
<title>Abstract</title> Background Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive ciliopathy with pathogenic variants in at least 26 BBS genes. It affects multiple organs including kidney and liver, however, organ involvement differs widely regarding extent time of first manifestation. Structural renal anomalies are an early feature frequency > 50% end-stage disease (ESKD) cumulates to 25% adolescence. Early-onset hyperphagia-associated obesity another major symptom contributes...
Background: In adults, a significant impact of thyroid dysfunction and autoimmunity on health-related quality life (HRQoL) mental health is described. However, studies in children adolescents are sparse, underpowered, findings ambiguous. Methods: Data from 759 German affected by disease (subclinical hypothyroidism: 331; subclinical hyperthyroidism: 276; overt 20; 28; Hashimoto's thyroiditis (HT): 68; thyroid-peroxidase antibody (TPO)-AB positivity without apparent dysfunction: 61) 7293...
There is a distinct increase in the prevalence of depression with onset puberty. The role peripubertal testosterone levels boys this context insufficiently understood and may be modulated by functional polymorphism androgen receptor gene (AR), variable number CAG repeats. Moreover, there preliminary evidence that relationship between testosterone, repeat length, severity depressive symptoms differ subclinical overt depression, but has neither been studied clinical sample adolescents nor...
Abstract Polygenic factors are relevant for the genetic predispositions to eating disorder anorexia nervosa (AN). The most recent genome-wide association study (GWAS) AN comprised almost 17,000 patients with and controls. A total of eight significant polygenic loci associated have been identified. Each single locus makes only a small contribution development AN. Analyses across different traits successfully identified regions/genes that had not detected by analyses traits. Functional studies...