Genomic Unit for the Diagnosis of Human Pathologies

Milano, Italy

Genomic Unit for the Diagnosis of Human Pathologies

Milano, Italy
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Rama P.,San Raffaele Scientific Institute | Knutsson K.A.,San Raffaele Scientific Institute | Rojo C.,San Raffaele Scientific Institute | Carrera P.,Genomic Unit for the Diagnosis of Human Pathologies | And 4 more authors.
Arquivos Brasileiros de Oftalmologia | Year: 2013

We report an atypical case of granular corneal dystrophy recurrence after deep anterior lamellar keratoplasty. We describe clinical features, histopathological analysis of the lamellar graft specimen and DNA analysis results. The slit-lamp examination and histopathological findings from the graft specimen indicated the confinement of the typical deposits of granular corneal dystrophy deep in the graft interface area. This localization is atypical, since in most cases recurrences in grafts tend to be initially superficial and situated in the epithelial or subepithelial corneal layers. Molecular genetic analysis revealed an already described mutation and a new intronic variant. The unusual localization and timing of this recurrence of granular corneal dystrophy after deep anterior lamellar keratoplasty suggests that corneal stromal keratocytes may play a role in the formation of granular deposits.


Causarano V.,Genomic Unit for the Diagnosis of Human Pathologies | Galbiati S.,Genomic Unit for the Diagnosis of Human Pathologies | Smid M.,San Raffaele Scientific Institute | Cremonesi L.,Genomic Unit for the Diagnosis of Human Pathologies | And 3 more authors.
Biochimica Clinica | Year: 2011

The study of cell-free RNA in maternal plasma provides a promising tool for monitoring some pregnancy pathologies, such as preeclampsia (PE). Due to the scarcity of RNA molecules in maternal plasma we introduced substantial improvements to the protocol previously described in the literature, including a preamplification step before quantitative analysis of target genes. By applying the improved protocol for plasma RNA quantification, we obtained an increase in sensitivity of about 10 quantification cycle values in detection of both the reference and target genes in a reliable amplification range. Among mRNA markers, the corticotropin-releasing hormone (CRH) transcript has been reported to be elevated in preeclamptic patients compared to women with uncomplicated pregnancy at the same gestational age. We applied the optimized protocol to the quantitative evaluation of CRH mRNA in women with overt PE, in a small cohort of women at risk of developing this pathology and in controls. Our preliminary results confirmed the increase of CRH mRNA concentration in preeclamptic women and showed that the transcript levels were significantly elevated in the last plasma sample collected from women at risk for the disease before the PE onset.

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