A5076820159- Thyroid Disorders and Treatments
- Regulation of Appetite and Obesity
- Biochemical Analysis and Sensing Techniques
- Congenital heart defects research
- Receptor Mechanisms and Signaling
- Genetics and Neurodevelopmental Disorders
- Thyroid Cancer Diagnosis and Treatment
- Growth Hormone and Insulin-like Growth Factors
- Neuroscience of respiration and sleep
- Diet and metabolism studies
- Sexual Differentiation and Disorders
- Adrenal Hormones and Disorders
- Adipose Tissue and Metabolism
- Neonatal Health and Biochemistry
- Neonatal Respiratory Health Research
- Genomics and Rare Diseases
- Pancreatic function and diabetes
- RNA modifications and cancer
- melanin and skin pigmentation
- Diabetes Treatment and Management
- Neuropeptides and Animal Physiology
- Ion channel regulation and function
- Epigenetics and DNA Methylation
- Obesity, Physical Activity, Diet
- Diet, Metabolism, and Disease
Charité - Universitätsmedizin Berlin
2016-2025
Freie Universität Berlin
1993-2025
Humboldt-Universität zu Berlin
2014-2025
Institute of Experimental Endocrinology of the Slovak Academy of Sciences
2008-2016
Endokrinologikum
2015
deCODE Genetics (Iceland)
2009
Sexual Health Clinic
2008
Centre Virchow-Villermé
2008
Klinik und Poliklinik für Kinder- und Jugendmedizin
2005
Zentrum für Kinderheilkunde
2003
The aim was to formulate practice guidelines for the diagnosis and management of congenital hypothyroidism (CH).A systematic literature search conducted identify key articles relating screening, diagnosis, CH. evidence-based were developed with Grading Recommendations, Assessment, Development Evaluation (GRADE) system, describing both strength recommendations quality evidence. In absence sufficient evidence, conclusions based on expert opinion.Thirty-two participants drawn from European...
Patients with rare defects in the gene encoding proopiomelanocortin (POMC) have extreme early-onset obesity, hyperphagia, hypopigmentation, and hypocortisolism, resulting from lack of proopiomelanocortin-derived peptides melanocyte-stimulating hormone corticotropin. In such patients, adrenal insufficiency must be treated hydrocortisone early life. No effective pharmacologic treatments been available for hyperphagia obesity that characterize condition. this investigator-initiated, open-label...
<b><i>Objective:</i></b> The aim was to formulate practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). <b><i>Evidence:</i></b> A systematic literature search conducted identify key articles relating screening, diagnosis, CH. evidence-based were developed with Grading Recommendations, Assessment, Development Evaluation (GRADE) system, describing both strength recommendations quality evidence. In absence...
At present, no European recommendations for the management of pediatric thyroid nodules and differentiated carcinoma (DTC) exist. Differences in clinical, molecular, pathological characteristics between adult DTC emphasize need specific population. An expert panel was instituted by executive committee Thyroid Association including an international community experts from a variety disciplines endocrinology, pathology, endocrine surgery, nuclear medicine, clinical genetics, oncology. The 2015...
The occurrence of neurological symptoms and developmental delay in patients affected by congenital hypothyroidism (CH) has been attributed to the lack thyroid hormone developing CNS. Accordingly, after introduction neonatal screening programs for CH, which allowed early adequate treatment, an almost normal outcome most CH could be achieved. However, a few did not reach this favorable despite treatment. Here we describe five with variable degrees who suffered from choreoathetosis, muscular...
The symptoms of severe early-onset obesity, adrenal insufficiency, and red hair define the proopiomelanocortin (POMC) deficiency syndrome as described so far in two children with complete loss-of-function mutations human POMC gene. In deficiency, obesity reflects lack POMC-derived peptides ligands at melanocortin (MC) MC4 MC3 receptors, which are expressed hypothalamic leptin-melanocortin pathway body weight regulation. Hypocortisolism alteration pigmentation caused by MC2 receptor skin MC1...
The occurrence of neurological symptoms and developmental delay in patients affected by congenital hypothyroidism (CH) has been attributed to the lack thyroid hormone developing CNS. Accordingly, after introduction neonatal screening programs for CH, which allowed early adequate treatment, an almost normal outcome most CH could be achieved. However, a few did not reach this favorable despite treatment. Here we describe five with variable degrees who suffered from choreoathetosis, muscular...
The individual risk for common diseases not only depends on genetic but also epigenetic polymorphisms. To assess the role of variations in obesity, we have determined methylation status two CpG islands at POMC locus obese and normal-weight children. We found a hypermethylation variant targeting CpGs intron 2-exon 3 boundary gene by bisulphite sequencing that was significantly associated with obesity. exon interferes binding transcription enhancer P300 reduces expression transcript. Since 2...
Background Taste sensitivity varies between individuals. Several studies describe differences obese and non-obese subjects concerning their taste perception. However, data are partly contradictory insufficient. Therefore, in this study of children/adolescents was analysed. Methods In a cross-sectional gustatory n=99 (body mass index (BMI) >97th percentile) n=94 normal weight (BMI <90th percentile), 6–18 years age, compared. Sensitivity for the qualities sweet , sour salty umami bitter...
<h3>Background</h3> <i>NKX2-1</i> encodes a transcription factor with large impact on the development of brain, lung and thyroid. Germline mutations can lead to dysfunction malformations these organs. Starting from largest coherent collection patients suspected phenotype date, we systematically evaluated frequency, quality spectrum phenotypic consequences mutations. <h3>Methods</h3> After identifying by Sanger sequencing array CGH, comprehensively reanalysed affected their relatives. We...