Maor Chavkin

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Over the last decade a significant increase in the life expectancy of people with Down syndrome (DS) has been observed, which has caused a higher incidence of morbidity as they age. However, there is a lack of literature regarding morbidity and hospitalization of adults with DS. Analysis of 297 hospitalizations of 120 adults with DS aged 18-73 years(More)
INTRODUCTION Children with Down syndrome present with multiple medical problems in a higher prevalence compared with the general population, which may lead to hospitalizations. METHODS Analysis of 560 hospitalizations of 162 children aged 0-16 years with Down syndrome at Hadassah Medical Center during the years 1988-2007 compared with data on children in(More)
Genetic deficiencies provide insights into gene function in humans. Here we describe a patient with a very rare genetic deficiency of ADAM17. We show that the patient's PBMCs had impaired cytokine secretion in response to LPS stimulation, correlating with the clinical picture of severe bacteremia from which the patient suffered. ADAM17 was shown to cleave(More)
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