From: Pediatric Heme/Oncology News
Urology
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Sirolimus and tuberous sclerosis-associated renal angiomyolipomas
We present here the case of a paediatric patient with TSC in whom
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Tuberous sclerosis complex (TSC) is an autosomal dominant disorder,
with 95% penetrance and a birth incidence of 1 in 6000–11
000.1 TSC is caused by germline mutations in either the TSC1 gene
on chromosome 9q34 encoding the protein hamartin or the TSC2 gene
on chromosome 16p13 encoding tuberin.1 Tuberin and hamartin form a
complex that regulates signalling through the mammalian target of
rapamycin (Rheb/mTOR/p70S6K) pathway, which controls processes such
as growth, cell cycle progression and apoptosis.2 Mutations of
these proteins permit aberrant upregulation of the mTOR signalling
pathway and cellular proliferations (subependymal giant cell
astrocytoma...
New research reports evaluating nephrology market in Europe released
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disturbances in their dialysis and chronic kidney disease patients.
EMEA Validates Cell Therapeutics, Inc.'s (CTI) Expanded Pixantrone Pediatric Investigation Plan (PIP)
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Are intracardiac shunts a risk factor for stroke in sickle cell disease?
Patients with sickle cell disease are at risk for ischemic stroke.
There is increasing interest in the role of intracardiac shunts,
such as a patent foramen ovale, which can result in paradoxical
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(Source: The Journal of Pediatrics)
