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https://www.selleckchem.com/ Cerebral cavernous malformations (CCMs) are vascular malformations that may result in headaches, seizures, focal neurological deficits, and hemorrhage. CCMs occur sporadically (80%) or in familial form (20%), with autosomal dominant inheritance. Among the three CCM-related genes, mutations in KRIT1 account for 53-65% of familial cases and more than 100 different mutations have been identified so far. In the present work, we describe the clinical, neuroradiological, and genetic findings of sixteen CCM Italian patients, 13 belonging to 4 unrelated families and 3 sporadic cases. Six distinct KRIT1 gene variants, two novel (c.1730+1_1730+3del, c.1664 C>T) and four previously described (c.966G>A, c.1255-1G>A c.1197_1200del, c.1255-1_1256del), were identified, including a possible de novo mutation. All the variants resulted in a premature stop codon. Cerebral 1.5 T magnetic resonance imaging showed multiple CCMs in all the mutation carriers for whom it was available, including sporadic cases. One patient had also cutaneous angiomas. Among the mutation carriers, symptomatic patients constituted 66% and a variable phenotypic expression was observed. Our data confirms phenotypic variability and incomplete penetrance of neurological symptoms in KRIT1-positive families, expands the mutational spectrum of this gene, and highlights how sporadic cases with multiple lesions need an approach similar to individuals with familial CCM.Porphyrin iron molecules (hemin) were successfully grafted on the channeled mesoporous silica of SBA-15 (FeIX-SBA-15), in which attached hemin molecules acted as the enzyme mimic for catalyzing oxidation reactions. In the presence of H2O2, the prepared FeIX-SBA-15 composite effectively degraded industrial dye Orange II and catalyzed tetramethylbenzidine hydrochloride (TMB) both in the solution and on the membrane, from which the colorimetric H2O2 detection was achieved. Moreover, the hemin-grafted composites showed high loadi

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