Search results for "HEREDITARY"

Combined effect of AAV-U7-induced dystrophin exon skipping and soluble activin Type IIB receptor in mdx mice.

2012

Adeno-associated virus (AAV)-U7-mediated skipping of dystrophin-exon-23 restores dystrophin expression and muscle function in the mdx mouse model of Duchenne muscular dystrophy. Soluble activin receptor IIB (sActRIIB-Fc) inhibits signaling of myostatin and homologous molecules and increases muscle mass and function of wild-type and mdx mice. We hypothesized that combined treatment with AAV-U7 and sActRIIB-Fc may synergistically improve mdx muscle function. Bioactivity of sActRIIB-Fc on skeletal muscle was first demonstrated in wild-type mice. In mdx mice we show that AAV-U7-mediated dystrophin restoration improved specific muscle force and resistance to eccentric contractions when applied a…

Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis

2009

Abstract Background Undiagnosed patients with the attenuated form of mucopolysaccharidosis (MPS) type I often have joint symptoms in childhood that prompt referral to a rheumatologist. A survey conducted by Genzyme Corporation of 60 European and Canadian rheumatologists and pediatric rheumatologists demonstrated that Bone and joint manifestations are prominent among most patients with MPS disorders. These life-threatening lysosomal storage diseases are caused by deficient activity of specific enzymes involved in the degradation of glycosaminoglycans. Patients with attenuated MPS disease often experience diagnostic delays. Enzyme replacement therapy is now commercially available for MPS I (l…

Systemic circulating microRNA landscape in Lynch syndrome

2022

AbstractMicroRNAs (miRs) are non-coding RNA-molecules that regulate gene expression. Global circulating miR (c-miR) expression patterns (c-miRnome) change with carcinogenesis in various sporadic cancers. Therefore, aberrantly expressed c-miRs could have diagnostic, predictive and prognostic potential in molecular profiling of cancers. c-miR functions in carriers of inherited pathogenic mismatch-repair gene variants (path_MMR), also known as Lynch syndrome (LS), have remained understudied. LS cohort provides an ideal population for biomarker mining due to increased lifelong cancer risk and excessive cancer occurrence. Using high-throughput sequencing and bioinformatic approaches, we conducte…

Multiscale Biomechanical Characterization of Ligaments and Tendons of the Human Knee

2020

Testing for Lynch Syndrome in Endometrial Carcinoma: From Universal to Age-Selective MLH1 Methylation Analysis

2022

Simple Summary International guidelines recommend universal screening of endometrial carcinoma patients for Lynch syndrome, a hereditary cancer predisposition syndrome. Screening is based on mismatch repair protein immunohistochemistry and reflex MLH1 methylation analysis to exclude the likely sporadic cases of MMR deficiency. As sporadic MLH1 protein loss is common in endometrial carcinoma, the ability to target methylation testing would save efforts and costs. We discovered that limiting methylation testing to patients under 65 years would have significantly reduced the testing effort while maintaining a low false negative rate for MLH1-LS detection (0% and 3% in our clinic and registry-b…

Race in Young Adult Speculative Fiction by Gilbert-Hickey and Gren-Barteet - books in review

2022

Race in Young Adult Speculative Fiction by Gilbert-Hickey and Gren-Barteet - books in review

Oral manifestations of Cowden?s disease : presentation of a clinical case

2006

Cowden?s disease, or multiple hamartoma syndrome, is an autosomal dominant genodermatosis, characterized by the presence of multiple cutaneous hamartomas, oral fibromas and benign acral keratosis. It affects multiple organs (breast, thyroids, stomach, colon), with the strong possibility of malignant neoplasia developing in these organs. We present a case of this rare syndrome, highlighting the presentation of some clinical characteristics that, in suspected cases, can help to establish an early diagnosis of this disease, this being of great importance given the high frequency of tumors in people with this clinical picture.

I nomi del male e i segni dell'eredità. Pensare, nominare e curare la malattia "genetica" dai Greci a noi

2019

Il volume indaga le radici storiche delle malattie che oggi definiamo genetiche e/o ereditarie, ponendo le premesse terminologiche e scientifiche che stanno a fondamento della riflessione moderna e contemporanea sulla malattia genetica, qui animata dal filo della continuità e della pur forte discontinuità con il pensiero antico. In tal senso, si presenta una retrospettiva storico-critica che, affondando le proprie radici nell’indagine lessicografica dei termini fondanti il pensiero embriogenetico moderno, interroga la validità storica ed epistemica di alcuni concetti e parole-chiave dell’era post-genomica, tra cui quello di causalità, o il rapporto tra natura e cultura, per toccare il nucle…

Interaction of the n-terminal domain of human t1r2 taste receptor with brazzein, a sweet-tasting protein

2015

Brazzein is a small (6.5 kDa) sweet-tasting protein originating from the fruit of Pentadiplandra brazzeana, a plant found in West Africa. Brazzein like all classes of sweet compounds is perceived through the activation of the T1R2/T1R3 heterodimeric sweet-taste receptor. T1R2 and T1R3 subunits are members of the small family of class C G-protein coupled receptors (GPCRs). Class C GPCRs possess a large N-terminal domain (NTD) linked to seven transmembrane domain by a cysteine rich domain (CRD). The NTD of T1R2 (T1R2-NTD) has been shown to contain the primary binding site for most of the sweet ligands. However, brazzein has been shown to require CRD of human T1R3 for receptor activation [1]. …

Mercato digitale e sistema delle successioni mortis causa

2022

The work aims to examine the curvature impressed by the current order of the market and of the "algorithmic" society, centered on social network platforms, on principles and categories of classical hereditary law, putting the system of mortis causa succession into reaction with the matter of relationships and personal rights developed on the web, marked by the changes that shake the European and internal legal framework. The study is organized according to a tripartite scheme, which distinguishes the succession in contracts for the supply of digital services, from the transmission of rights on user-generated content and on the personal data of the deceased. To then keep a unity in the const…