Publications by authors named "A Klein-Franke"

Article Synopsis
  • The study focuses on a specific genetic deficiency related to ZNFX1, which is crucial for regulating antiviral immune responses to viral nucleic acids.
  • Researchers examined 15 patients from 8 families who showed severe reactions to both RNA and DNA viral infections, including chronic inflammation and organ issues.
  • The findings revealed harmful genetic variants in ZNFX1 among patients, leading to unbalanced interferon-stimulated gene expression and difficulties in clearing viral infections.
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Neuroblastoma is a malignant embryonal tumor derived from the neural crest cells of the sympathetic nervous system. Curative therapy is challenging, especially because early-stage diagnosis in toddlers is difficult. Successful treatment of high-risk neuroblastoma is only achieved in approximately half of the cases and requires an immediate interdisciplinary approach.

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Background: Melanotic neuroectodermal tumor of infancy (MNTI) is a rare tumor, which usually occurs in infants under the age of one. Early diagnosis and radical surgery seem to be critical for long-term cure.

Case Presentation: We describe a case of a 4-month-old boy with a MNTI to the skull.

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Background: Anemia in toddlers may result from many disorders including excessive feeding with cow's milk. Another sequel of age-inadequate cow's milk nutrition may be gastric lactobezoar (GLB), a dense lump of coagulated milk and mucus in the stomach.

Patients: 3 toddlers presented with a history of excessive intake of full cream cow's milk, abdominal distension, vomiting, dehydration, fatigue, marked pallor and tachycardia.

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Background: Iron-refractory iron deficiency anaemia (IRIDA) is a rare disorder which was linked to mutations in two genes (SLC11A2 and TMPRSS6). Common polymorphisms within these genes were associated with serum iron levels. We identified a family of Serbian origin with asymptomatic non-consanguineous parents with three of four children presenting with IRIDA not responding to oral but to intravenous iron supplementation.

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