A5078099590- Connective tissue disorders research
- Neonatal Respiratory Health Research
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Diabetes Management and Research
- Pancreatitis Pathology and Treatment
- Diabetes and associated disorders
- Metabolism and Genetic Disorders
- Thyroid Disorders and Treatments
- Lipid metabolism and disorders
- Medical Practices and Rehabilitation
- Congenital Diaphragmatic Hernia Studies
- Bone health and treatments
- Growth Hormone and Insulin-like Growth Factors
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Lipid metabolism and biosynthesis
- Lysosomal Storage Disorders Research
- Glycosylation and Glycoproteins Research
- Bone and Dental Protein Studies
- Scoliosis diagnosis and treatment
- Genomics and Rare Diseases
- Ergonomics and Musculoskeletal Disorders
- Medical and Health Sciences Research
- Carbohydrate Chemistry and Synthesis
- Mitochondrial Function and Pathology
- Craniofacial Disorders and Treatments
Otto-von-Guericke University Magdeburg
2021-2025
Universitätskinderklinik
2021-2024
University Hospital Magdeburg
2020-2024
Klinikum Magdeburg
2020-2024
Abstract Objective This study aims to elucidate the long‐term benefit of newborn screening (NBS) for individuals with long‐chain 3‐hydroxy‐acyl‐CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiency, inherited metabolic diseases included in NBS programs worldwide. Methods German national multicenter confirmed LCHAD/MTP deficiency identified by between 1999 2020 or selective screening. Analyses focused on results, confirmatory diagnostics, clinical outcomes....
Vosoritide is the first approved pharmacological treatment for achondroplasia and indicated at-home injectable administration by a trained caregiver. This research aimed to explore parents' children's experience of initiating vosoritide administering this at home.Qualitative telephone interviews were conducted with parents children being treated in France Germany. Interviews transcribed analysed using thematic analysis.Fifteen participated September October 2022. The median age sample was 8...
Vosoritide is a C-type natriuretic peptide analog that addresses an underlying pathway causing reduced bone growth in achondroplasia. Understanding the vosoritide treatment effect requires evaluation over extended duration and comparison with outcomes untreated children.
Abstract Congenital primary hypothyroidism (CH) and congenital adrenal hyperplasia (CAH) are targeted by the German Austrian newborn screening. For both diseases, there registries for quality improvement, based on standardized observational data from long-term patient follow-up, under auspices of DGKED study group. By September 2021, CH registry HypoDOK includes datasets 23,348 visits 1,840 patients, CAH contains 36,237 1,976 patients. Here, we report recruitment process, characteristics,...
Neonatal screening for congenital primary hypothyroidism (CH) is mandatory in Germany but medical care thereafter remains inconsistent. Therefore, the registry HypoDok of German Society Pediatric Endocrinology and Diabetology (DGKED) was analyzed to evaluate implementation evidence-based guidelines assess number included patients. Inclusion criteria were (i) date birth between 10/2001 05/2020 (ii) increased thyroid-stimulating hormone (TSH) at and/or confirmation. The cohort divided into...
Hintergrund: Die Häufigkeit der diabetischen Ketoazidose (DKA) bei Manifestation eines Typ-1-Diabetes (T1D) im Kindesalter ist in den vergangenen Jahren angestiegen. Es gibt Hinweise, dass T1D-Früherkennungsprogramme und/oder Aufklärungskampagnen die DKA-Rate senken können. Unklar ist, ob bzw. wann dadurch eine relevante Reduktion auf Populationsebene erreicht werden kann. Dies sollte anhand von bundesweiten Daten des DPV-Registers untersucht werden.
Hintergrund: Die Inzidenz des Diabetes mellitus Typ 2 bei Kindern und Jugendlichen steigt in Deutschland kontinuierlich an [1]. Daten US-amerikanischer Kohortenstudien zeigen, dass arterielle Hypertension, diabetische Nephropathie, Retinopathie Neuropathie mit Typ-2-Diabetes (T2D) früher häufiger als Typ-1-Diabetes auftreten (T1D) [2] [3]. Ob diese Beobachtungen auch für Kinder Jugendliche T2D zutreffen, ist derzeit unbekannt.
<title>Abstract</title> <bold>Background:</bold> Neonatal screening for congenital primary hypothyroidism (CH) is mandatory in Germany but medical care thereafter remains inconsistent. Therefore, the multicentre database <italic>HypoDok</italic> was analysed to evaluate implementation of evidence-based guidelines children with CH and assess number patients this registry German society paediatric endocrinology diabetology (DGKED).<bold>Methods:</bold> includes prospective documentation 1,630...
Abstract BackgroundFinding a diagnosis for rare diseases is challenge patients and those treating them. Establishing uniform methodology specifying the symptoms of patient seems useful. This, as well database with clinical parameters reported in already diagnosed corresponding disease or that have led to diagnosis, would facilitate global data exchange between specialists subsequently diagnosis. The aim this work develop standardized sets most frequent exemplarily three late-onset Pompe...