Synthesis and Thermodynamic Evaluation of Sialyl-Tn MUC1 Glycopeptides Binding to Macrophage Galactose-Type Lectin.

Interactions between the tumor-associated carbohydrate antigens of Mucin 1 (MUC1) and the carbohydrate-binding proteins, lectins, often lead to the creation of a pro-tumor microenvironment favoring tumor initiation, progression, metastasis, and immune evasion. Macrophage galactose binding lectin (MGL) is a C-type lectin receptor found on antigen-presenting cells that facilitates the uptake of carbohydrate antigens for antigen presentation, modulating the immune response homeostasis, autoimmunity, and cancer. Considering the crucial role of tumor-associated forms of MUC1 and MGL in tumor immunology, a thorough understanding of their binding interaction is essential for it to be exploited for cancer vaccine strategies.

Comprehensive Genetic Evaluation of Bulgarian Children with Syndromic Craniosynostosis.

Syndromic craniosynostosis (SC) is a genetically determined premature closure of one or more of the cranial sutures, which may result in severe dysmorphism, increased intracranial pressure along with many other clinical manifestations. The considerable risk of complications along with their significant incidence makes these cranial deformations an important medical problem. Aiming to elucidate the complex genetic etiology of syndromic craniosynostosis, we investigated 39 children, screened systematically with a combination of conventional cytogenetic analysis, multiplex ligation-dependent probe amplification (MLPA) and array-based comparative genomic hybridisation (aCGH).

ShExML: improving the usability of heterogeneous data mapping languages for first-time users.

Integration of heterogeneous data sources in a single representation is an active field with many different tools and techniques. In the case of text-based approaches-those that base the definition of the mappings and the integration on a DSL-there is a lack of usability studies. In this work we have conducted a usability experiment ( = 17) on three different languages: ShExML (our own language), YARRRML and SPARQL-Generate.

[Morphologically qnd immunohistochemically based screening criteria for selection of patients with possible mutation of BRCA1 gene in primary ovarian cancer].

Unlabelled: SUMMARY AND AIM: Breast cancer (BC) and Ovarian cancer (OC) are some of the most common cancers affecting women. Environmental factors and genetic alterations are involved in the etiology of both cancers. The main susceptibility genes that predisposed to BC and OC are BRCA1 (BReast CAncer 1) and BRCA 2 (BReast CAncer 2).

Gelastic seizures in ring chromosome 20 syndrome: a case report with video illustration.

Although increasingly recognised, ring chromosome 20 (r[20]) syndrome is still diagnosed with delay, sometimes leading to inappropriate presurgical evaluation. The focal, presumed frontal, character of the seizures manifesting with fear and hypermotor behaviour and episodes of non-convulsive status epilepticus (NCSE) are most typical, as well as cognitive impairment with behavioural problems and, sometimes, dysmorphic signs. We present a girl diagnosed at the age of 13 years who suffered from an atypical clinical presentation, with minimal cognitive problems, absence of dysmorphic symptoms, and hypermotor/gelastic seizures.