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DOI 10.1055/s-00000034

Klinische Pädiatrie

In dieser Ausgabe:

Rare Tumors in Children and Adolescents – the STEP Working Groupʼs Evolution to a Prospective Registry

Background Very rare tumors (VRT) in children and adolescents have such a low incidence that until recently, they have not been integrated into the clinical and scientific network of pediatric oncology. Data is very limited and consistent treatment strategies are missing. Thus, VRTs are classic orphan diseases. To counteract this problem, the Arbeitsgemeinschaft für Seltene Tumorerkrankungen in der Pädiatrie (STEP) was founded. Here we report on patient recruitment during the first 10 years. Pat...

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Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families

Background Xeroderma pigmentosum (XP) is a rare recessively inherited disorder that presents clinical and genetic heterogeneity. Mutations in eight genes, of which seven are involved in nucleotide excision repair (NER) pathway have been reported to cause the XP.

Methods and Results Three large consanguineous families of Pakistani origin displaying typical clinical hallmarks of XP were evaluated at clinical and molecular level. Homozygosity mapping using microsatellite markers established linkage of...

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Secondary Biphenotypic Acute Leukemia Following Rosai-Dorfman-Disease A Coincidence?

RDD Rosai-Dorfman-Disease

TP53 Tumor protein p53

CNS Central nervous system

Dexa dexamethasone

ESR Erythrocyte sedimentation rate

IC-2 Initial Course 2 of LCH-registry Therapy (Vinblastine and Prednisolone)LCH-registry International Collaborative TreatmentProtocol for Children and Adolescents with Langerhans Cell Histiocytosis

LDH Lactate dehydrogenase

MRD Minimal residual disease

MRI Magnetic resonance imaging

N-LCH Non-Langerhans cell histiocytosis

Nel Nelarabine

Cyt Cytarabine

Eto Etoposide

Dara Daratumom...

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Infant Acute Myeloid Leukemia Presenting as Acute Appendicitis: A Case Report

Acute leukemia is among the most common malignancy in infancy and childhood. The distinction between lymphoblastic and myeloid leukemia is crucial for appropriate therapy. Acute myeloid leukemia (AML) is less common than lymphoblastic leukemia, but sometimes presents with equally nonspecific symptoms at initial diagnosis. Timely detection of the disease affects treatment and prognosis.

At initial diagnosis, leukemias are often recognized by the consequences of the pathologically altered blood cel...

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Differenzialdiagnosen in der Kinder- und Jugendmedizin
Robert PloierDifferenzialdiagnosen in der Kinder- und Jugendmedizin

EUR [D] 52,99Inkl. gesetzl. MwSt.

Praktische Pneumologie in der Pädiatrie - Diagnostik
Matthias Griese, Thomas Nicolai, Robert Dalla, Christoph Döhlemann, Richard dePraktische Pneumologie in der Pädiatrie - Diagnostik

Rationale Differenzialdiagnostik

EUR [D] 29,99Inkl. gesetzl. MwSt.

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