The Functional and Structural Evaluation of Small Fibers in Asymptomatic Carriers of p.Val50Met (Val30Met) Mutation

Infectious diseases have caused historical pandemics in the world. Three strategies, including sanitation programs, antimicrobial drugs, and vaccines are considered for the prevention and treatment of infectious diseases. Today, some infectious diseases cause millions of mortalities universally. Due to the emergence of antibiotic-resistant pathogens, as well as some limitations of traditional vaccines, focusing on novel strategies is essential. Multi-Epitope Vaccines (MEVs), as a novel strategy, have been designed based on immunoinformatics methods; epitope prediction by authentic servers, attachment of epitopes using proper linkers, physicochemical, immunological and structural evaluation by bioinformatics tools that are basic stages in MEVs designing. Advantages such as cost-effective, high safety, less time consumption in designing, the application of natural adjuvants, and satisfactory preclinical evaluation outstand MEVs than other types of vaccines. Therefore, MEVs are promising vaccines against resistant diseases such as lower respiratory infection and diarrhea.

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STRUCTURAL EVALUATION METHOD OF TRANSVERSE JOINT OF CONCRETE PAVEMENT CONSIDERING DEGRADATION PROCESS

Journal of Japan Society of Civil Engineers Ser E1 (Pavement Engineering) ◽

10.2208/jscejpe.74.42 ◽

2018 ◽

Vol 74 (2) ◽

pp. 42-51

Author(s):

Tatsuo NISHIZAWA ◽

Yuya WAKABAYASHI ◽

Masataka UCHIDA ◽

Masayuki YABU

Keyword(s):

Evaluation Method ◽

Degradation Process ◽

Concrete Pavement ◽

Structural Evaluation ◽

Transverse Joint

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X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers

Genes ◽

10.3390/genes10110919 ◽

2019 ◽

Vol 10 (11) ◽

pp. 919 ◽

Cited By ~ 1

Author(s):

Viggiano ◽

Madej-Pilarczyk ◽

Carboni ◽

Picillo ◽

Ergoli ◽

...

Keyword(s):

Muscular Dystrophy ◽

X Chromosome ◽

Clinical Symptoms ◽

Fibrous Tissue ◽

X Chromosome Inactivation ◽

Chromosome Inactivation ◽

Cardiac Conduction ◽

Asymptomatic Carriers ◽

Cardiac Symptoms ◽

Female Carriers

X-linked Emery–Dreifuss muscular dystrophy (EDMD1) affects approximately 1:100,000 male births. Female carriers are usually asymptomatic but, in some cases, they may present clinical symptoms after age 50 at cardiac level, especially in the form of conduction tissue anomalies. The aim of this study was to evaluate the relation between heart involvement in symptomatic EDMD1 carriers and the X-chromosome inactivation (XCI) pattern. The XCI pattern was determined on the lymphocytes of 30 symptomatic and asymptomatic EDMD1 female carriers—25 familial and 5 sporadic cases—seeking genetic advice using the androgen receptor (AR) methylation-based assay. Carriers were subdivided according to whether they were above or below 50 years of age. A variance analysis was performed to compare the XCI pattern between symptomatic and asymptomatic carriers. The results show that 20% of EDMD1 carriers had cardiac symptoms, and that 50% of these were ≥50 years of age. The XCI pattern was similar in both symptomatic and asymptomatic carriers. Conclusions: Arrhythmias in EDMD1 carriers poorly correlate on lymphocytes to a skewed XCI, probably due to (a) the different embryological origin of cardiac conduction tissue compared to lymphocytes or (b) the preferential loss of atrial cells replaced by fibrous tissue.

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