A5041907537- Cancer, Hypoxia, and Metabolism
- Genetics and Neurodevelopmental Disorders
- Adrenal and Paraganglionic Tumors
- Immunodeficiency and Autoimmune Disorders
- Genomics and Rare Diseases
- Blood disorders and treatments
- Acute Myeloid Leukemia Research
- Erythrocyte Function and Pathophysiology
- Hormonal Regulation and Hypertension
- Genomic variations and chromosomal abnormalities
- Glioma Diagnosis and Treatment
- Congenital heart defects research
- Cerebral Palsy and Movement Disorders
- Acute Lymphoblastic Leukemia research
- Congenital Heart Disease Studies
- Thyroid Cancer Diagnosis and Treatment
- Kawasaki Disease and Coronary Complications
- Vestibular and auditory disorders
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Glycogen Storage Diseases and Myoclonus
- Leptospirosis research and findings
- Single-cell and spatial transcriptomics
- Renal cell carcinoma treatment
- Spinal Dysraphism and Malformations
- Head and Neck Anomalies
Klinikum Oldenburg
2016-2025
Zentrum für Kinderheilkunde
2023
Heidelberg University
2023
University Hospital Heidelberg
2023
Children's Clinical University Hospital
2010-2023
ORCID
2023
Carl von Ossietzky Universität Oldenburg
2021
University of Cologne
2020
University Hospital Münster
2007-2013
Klinik und Poliklinik für Kinder- und Jugendmedizin
2012-2013
Summary The procedure guideline for radioiodine (131I) therapy and 131I whole-body scintigraphy of differentiated thyroid cancer in paediatric patients is the counterpart to guidelines (version 3) adult specify interdisciplinary Deutsche Krebsgesellschaft concerning nuclear medicine part. Characteristics children are higher aggressiveness papillary cancer, frequency extrathyroidal extension disseminated pulmonary metastases as well high risk local recurrences. Radioiodine generally...
The heterodimeric hypoxia-inducible factor (HIF)-1 is a master regulator of oxygen homeostasis. Protein stability and transactivation function the α subunit are controlled by iron- oxygen-dependent hydroxylation proline asparagine residues. anti-mycotic ciclopirox olamine (CPX) lipophilic bidentate iron chelator that stabilizes HIF-1α under normoxic conditions at lower concentrations than other chelators, probably inhibiting hydroxylation. As shown inhibition iron-dependent quenching...
Increasing evidence links genetic defects affecting actin-regulatory proteins to diseases with severe autoimmunity and autoinflammation, yet the underlying molecular mechanisms are poorly understood. Dedicator of cytokinesis 11 (DOCK11) activates small Rho guanosine triphosphatase (GTPase) cell division cycle 42 (CDC42), a central regulator actin cytoskeleton dynamics. The role DOCK11 in human immune-cell function disease remains unknown.We conducted genetic, immunologic, assays four...
Hintergrund: THSD1 (thrombospondin type-1 domain-containing protein 1) ist ein Transmembranprotein, das zur Familie der Thrombospondin-Proteine gehört. Bekannt ist, dass heterozygote pathogene Varianten im THSD1-Gen mit intrakraniellen Aneurysmata assoziiert sind und bei Patienten biallelischen pathogenen lymphatischen Fehlbildungen, nicht-immunem Hydrops fetalis, Herzfehler Hämangiomen beschrieben wurden. Das Auftreten von Interstitiellen Lungenerkrankungen Kindesalter (chILD) sowie...
Background Chiari II malformation occurs in one of 1000 live births and causes posterior fossa malformation. In malformation, a lumbosacral meningomyelocele is nearly always present. Achondroplasia the most common cause dwarfism, occurring 26,000 births. Both achondroplasia can compression at craniocervical junction consecutive hydrocephalus. Case presentation The case three-year-old male with meningomyelocele, presented. To authors’ knowledge, this second such that has been reported so far....
In recent years, many mutations have been identified that affect the biosynthesis of glycosylphosphatidylinositol anchor, a biomolecule attaches surface molecules to cell membranes. Here, we present two second‐degree cousins with unexplained patterns seizures. Next‐generation sequencing homozygous c.460A>G; p.(R154G) PIGW mutation in both patients. Transfection mutated allele into Pigw ‐defective CHO cells indicated impaired enzymatic activity product. Alkaline phosphatase did not exceed...
Pathogenic variants in
Abstract While mostly de novo truncating variants in SCAF4 were recently identified 18 individuals with variable neurodevelopmental phenotypes, knowledge on the molecular and clinical spectrum is still limited. We assembled data 50 novel ascertained via GeneMatcher personal communication. With detailed evaluation of data, silico predictions structural modeling, we further characterized autosomal dominant -associated disorder. The comprises 25 truncating, eight splice-site five missense...
Abstract Background Adrenocortical tumours (ACT) in children are rare and, if malignant, often associated with poor prognosis. Relevant cytogenetic factors for prognosis hardly available. Procedures We analysed 14 adrenocortical cancers (ACC) of by comparative genomic hybridisation (CGH). Results The total number imbalances ranged from 1 to 17 individual tumour samples. most common were +1q (57%), +12p (50%), +12q +1p (43%), +7q (42%), +9q +15q and −4q −11q −4p −16q (42%). median changes was...
Reprogramming of somatic cells into patient-specific pluripotent analogues human embryonic stem (ESCs) emerges as a prospective therapeutic angle in molecular medicine and tool for basic cell biology. However, the combination relative inefficiency high variability non-defined culture conditions precluded use this technique clinical setting impeded comparability between laboratories. To overcome these obstacles, we sequentially devised reprogramming protocol using one lentiviral-based...
Prevalence of obesity increased noticeably during the last decades. Little is known so far about association between fat accumulation due to and skeletal muscle mass. The aim this study was describe mass after adjusting for relevant confounding factors in National Health Nutrition Examination Survey (NHANES) population children adolescents. We postulated a negative correlation lean body
Abstract Background Recently the UICC‐TNM classification for differentiated thyroid cancer (DTC) was changed neglecting special circumstances children affected by disease. While 1997 TNM grouped tumours ≤1 cm as T1, 2002 system this to a margin of ≤2 cm. The consequences change were evaluated analysing patients enrolled in multicentre interdisciplinary therapy study German Society Paediatric Oncology and Haematology (GPOH) on malignant endocrine adolescents, GPOH‐MET 97. Procedure Between...
Abstract We report a 6‐year‐old female with congenital bone marrow failure, who was referred for allogeneic stem cell transplantation. An initial work‐up in infancy had not revealed any consistent symptoms associated an inherited syndrome. Computed tomography of her abdomen gastrointestinal bleeding after transplantation incidentally fat‐replaced pancreas and led to the molecular diagnosis Shwachman–Diamond syndrome (SDS) absence clinical exocrine pancreatic insufficiency. conclude that SDS...
Abstract Acute lymphoblastic leukemia (ALL) can be preceded by a prodromal phase of bone marrow failure. In serial trephine biopsies in girl with acquired hypoplasia, we have identified monoclonal B‐cell precursor population characterized clone‐specific IgH‐FR3 gene rearrangement. Progression to ALL more than 4 months later was accompanied acquisition an additional T‐cell receptor Thus, hypoplastic pre‐ and overt share common clonal origin. Prospective biobanking extended molecular analysis...
ABSTRACT Generalised Lymphatic Dysplasia (GLD) is characterised by widespread lymphoedema, with at least one of the following: fetal hydrops, intestinal or pulmonary lymphangiectasia, pleural effusions, pericardial effusions and ascites. Satisfactory medical therapies are lacking. A genetic association has been identified that prevents expression surface trafficking PIEZO1, a subunit mechanically activated calcium-permeable channels. However, PIEZO1 large highly polymorphic gene...