HLA-E*0101/0103X is associated with susceptibility to pemphigus vulgaris: a case-control study

Pemphigus vulgaris (PV) is a life-threatening, autoimmune blistering disease of the skin and mucous membranes. The relationship between PV and human leukocyte antigen (HLA) has been studied in several reports. Previous reports have demonstrated that HLA-E polymorphisms may have a role in the susceptibility to various autoimmune diseases. Our aim was to evaluate the role of HLA-E gene polymorphisms in the pathogenesis of PV in a Turkish population. A total of 49 patients with PV and 50 healthy subjects were enrolled into the study. We sequenced and analyzed the HLA-E gene from genomic DNA obtained from peripheral blood samples of the study groups. HLA-E haplotyping was performed by Sanger sequencing of PCR products of the HLA-E gene and HLA-E alleles determined by using SeqScape® software according to the World Health Organization (WHO) Nomenclature Committee for Factors of the HLA System. The frequency of the HLA-E*0101/*0103X genotype in male patients with PV was found to be significantly higher than in men in the control group (P=0.023). In addition, the frequency of the HLA-E*0103X/*0103X genotype was significantly lower in patients with PV than the control group (P=0.040). We also detected that the frequency of the HLA-E*0101/*0103X genotype in patients with mucocutaneous type PV and the frequency of the HLA-E*0101/*0101 genotype in patients with mucosal type PV was significantly higher than those in other types of PV (P=0.001 and P=0.006). The results of this study indicate that carrying the HLA-E*0101/0103X genotype may increase the risk of PV in male patients.  </p

Changes of surface properties of calcite particles with calcium stearate using conventional experimental design and properties of coated calcite

Calcite is utilized as a filler mineral in the industries such as plastics, rubber, and paint, to gain products with a variety of features. In order to use a calcite ore as a filler, some specific physical and physico-chemical properties are required such as ultra-fine sizes and conversion of hydrophilic to hydrophobic structure. In the present study, for these purposes, surfaces of the ultra-fine calcite powder (d50=2.94 ?m) were coated by a mechano-chemical process with calcium stearate [Ca(C17H35COO)2] in a stirred ball mill. The influence of operating parameters such as calcite filling-ratio, ball-filling ratio, operation speed, grinding time and chemical dosage on the active ratio (%) was systematically examined. Then, the properties of modified calcite product were measured and evaluated by contact angle, TGA, DTA, FTIR, and SEM. The results showed that the mechano-chemical technology is very effective for modifying the surface of micronized calcite products using calcium stearate chemical. © Wroclaw University of Science and Technology

Changes of surface properties of calcite particles with calcium stearate using conventional experimental design and properties of coated calcite

Calcite is utilized as a filler mineral in the industries such as plastics, rubber, and paint, to gain products with a variety of features. In order to use a calcite ore as a filler, some specific physical and physico-chemical properties are required such as ultra-fine sizes and conversion of hydrophilic to hydrophobic structure. In the present study, for these purposes, surfaces of the ultra-fine calcite powder (d50=2.94 μm) were coated by a mechano-chemical process with calcium stearate [Ca(C17H35COO)2] in a stirred ball mill. The influence of operating parameters such as calcite filling-ratio, ball-filling ratio, operation speed, grinding time and chemical dosage on the active ratio (%) was systematically examined. Then, the properties of modified calcite product were measured and evaluated by contact angle, TGA, DTA, FTIR, and SEM. The results showed that the mechano-chemical technology is very effective for modifying the surface of micronized calcite products using calcium stearate chemical

A Dosimetric Plan Study to Increase the Dose from 63 Gy to 70 Gy in Early-Stage Glottic Larynx Cancer

OBJECTIVE The present study aims to compare the treatment plan parameters of different radiotherapy techniques [3D-Conformal Radiotherapy (3D-CRT), Dynamic – Intensity Modulated Radiotherapy (D-IMRT), Intensity Modulated Arc Therapy (IMAT) and Helical Tomotherapy (HT)] in Early-Stage Glottic Larynx (EGL) cancer to increase the treatment dose from 63 Gy to 70 Gy. METHODS The dose prescription was defined as 2.12 Gy per fraction to a total of 33 fractions. 95% of Planning Treatment Volume-63 Gy (PTV-63) and Planning Treatment Volume-70 (PTV- 70) treatment volumes received the treatment dose of at least 63 and 70 Gy, respectively. The conventional-boost technique was used for 3D-CRT and the simultaneous integrated boost technique was used for other techniques. RESULTS The doses obtained from carotid arteries, thyroid and submandibular glands using IMRT, IMAT, and HT were significantly lower than 3D-CRT. The study results pointed out the possibility of giving a treatment dose of 70 Gy to the PTV of EGL with all planning techniques, with some advantages and disadvantages between them. All IMRT techniques provided superiority to 3D-CRT on the doses of the carotid artery, the thyroid gland, the submandibular glands, and the pharyngeal constrictor muscles with less variation between them. CONCLUSION The IMAT and 3D-CRT techniques yielded lower monitor unit values compared to other techniques. Normal tissue radiation exposure was lowest with the 3D-CRT technique. We recommend to increase the treatment dose from 63 Gy to 70 Gy in the radiotherapy of EGL cancer but to select the technique according to the patient’s condition

Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations

Background: Genetic etiologies of autism spectrum disorders (ASD) are complex, and the genetic factors identified so far are very diverse. In complex genetic diseases such as ASD, de novo or inherited chromosomal abnormalities are valuable findings for researchers with respect to identifying the underlying genetic risk factors. With gene mapping studies on these chromosomal abnormalities, dozens of genes have been associated with ASD and other neurodevelopmental genetic diseases. In the present study, we aimed to idenitfy the causative genetic factors in patients with ASD who have an apparently balanced chromosomal translocation in their karyotypes. Methods: For mapping the broken genes as a result of chromosomal translocations, we performed whole genome DNA sequencing. Chromosomal breakpoints and large DNA copy number variations (CNV) were determined after genome alignment. Identified CNVs and single nucleotide variations (SNV) were evaluated with VCF-BED intersect and Gemini tools, respectively. A targeted resequencing approach was performed on the JMJD1C gene in all of the ASD cohorts (220 patients). For molecular modeling, we used a homology modeling approach via the SWISS-MODEL. Results: We found that there was no contribution of the broken genes or regulator DNA sequences to ASD, whereas the SNVs on the JMJD1C, CNKSR2 and DDX11 genes were the most convincing genetic risk factors for underlying ASD phenotypes. Conclusions: Genetic etiologies of ASD should be analyzed comprehensively by taking into account of the all chromosomal structural abnormalities and de novo or inherited CNV/SNVs with all possible inheritance patterns

Mutations In Ripk4 Cause The Autosomal-Recessive Form Of Popliteal Pterygium Syndrome

The autosomal-recessive form of popliteal pterygium syndrome, also known as Bartsocas-Papas syndrome, is a rare, but frequently lethal disorder characterized by marked popliteal pterygium associated with multiple congenital malformations. Using Affymetrix 250K SNP array genotyping and homozygosity mapping, we mapped this malformation syndrome to chromosomal region 21q22.3. Direct sequencing of RIPK4 (receptor-interacting serine/threonine kinase protein 4) showed a homozygous transversion (c.362T>A) that causes substitution of a conserved isoleucine with asparagine at amino acid position 121 (p.Ile121Asn) in the serine/threonine kinase domain of the protein. Additional pathogenic mutations-a homozygous transition (c.551C>T) that leads to a missense substitution (p.Thr184Ile) at a conserved position and a homozygous one base-pair insertion mutation (c.777_778insA) predicted to lead to a premature stop codon (p.Arg260ThrfsX14) within the kinase domain-were observed in two families. Molecular modeling of the kinase domain showed that both the Ile121 and Thr184 positions are critical for the protein's stability and kinase activity. Luciferase reporter assays also demonstrated that these mutations are critical for the catalytic activity of RIPK4. RIPK4 mediates activation of the nuclear factor-kappa B (NF-kappa B) signaling pathway and is required for keratinocyte differentiation and craniofacial and limb development. The phenotype of Ripk4(-/-) mice is consistent with the human phenotype presented herein. Additionally, the spectrum of malformations observed in the presented families is similar, but less severe than the conserved helix-loop-helix ubiquitous kinase (CHUK)-deficient human fetus phenotype; known as Cocoon syndrome; this similarity indicates that RIPK4 and CHUK might function via closely related pathways to promote keratinocyte differentiation and epithelial growth.WoSScopu

Editor-in-Chief

Andrejs Geske (University of Latvia, Latvia) B. N. Ghosh (Eastern Med. Univ. North Cyprus) Bayram Ürekli (University of Selçuk, Türkiye) Erdinç Didar (American University, Bulgaria) Ercan Tatlıdil (University of Ege, Türkiye) Erman Artun (University of Çukurova, Türkiye) Hikmet Y. Celkan (University of Gaziantep, Türkiye) Hüseyin Bağcı (METU, Türkiye) Jean Crombois (American University, Bulgaria) Kemal Silay (Indiana University, USA) Lelio Iapadre (University of L'Aquila, Italy) Michael Goldman (University of Minnesota, USA

Translating Biotechnology To Knowledge-Based Innovation, Peace, And Development? Deploy A Science Peace Corps-An Open Letter To World Leaders

Scholarship knows no geographical boundaries. This science diplomacy and biotechnology journalism article introduces an original concept and policy petition to innovate the global translational science, a Science Peace Corps. Service at the new Corps could entail volunteer work for a minimum of 6 weeks, and up to a maximum of 2 years, for translational research in any region of the world to build capacity manifestly for development and peace, instead of the narrow bench-to-bedside model of life science translation. Topics for translational research are envisioned to include all fields of life sciences and medicine, as long as they are linked to potential or concrete endpoints in development, foreign policy, conflict management, post-crisis capacity building, and/or peace scholarship domains. As a new instrument in the global science and technology governance toolbox, a Science Peace Corps could work effectively, for example, towards elucidating the emerging concept of "one health"-encompassing human, environmental, plant, microbial, ecosystem, and planet health-thus serving as an innovative crosscutting pillar of 21st century integrative biology. An interdisciplinary program of this caliber for development would link 21st century life sciences to foreign policy and peace, in ways that can benefit many nations despite their ideological differences. We note that a Science Peace Corps is timely. The Intergovernmental Panel on Climate Change (IPCC) of the United Nations released the Fifth Assessment Report on March 31, 2014. Worrisomely, the report underscores that no person or nation will remain untouched by the climate change, highlighting the shared pressing life sciences challenges for global society. To this end, we recall that President John F. Kennedy advocated for volunteer work that has enduring, transgenerational, and global impacts. This culminated in establishment of the Peace Corps in 1961. Earlier, President Abraham Lincoln aptly observed, "nearly all men can stand adversity, but if you want to test a man's character, give him power." We therefore petition President Barack Obama, other world leaders, and international development agencies in positions of power around the globe, to consider deploying a Science Peace Corps to cultivate the essential (and presently missing) ties among life sciences, foreign policy, development, and peace agendas. A Science Peace Corps requires support by a credible and independent intergovernmental organization or development agency for funding, and arbitration in the course of volunteer work when the global versus local (glocal) value-based priorities and human rights intersect in synergy or conflict. In all, Science Peace Corps is an invitation to a new pathway for competence in 21st century science that is locally productive and globally competitive. It can open up scientific institutions to broader considerations and broader inputs, and thus cultivate vital translational science in a world sorely in need of solidarity and sustainable responses to the challenges of 21st century science and society.Wo

Analysis of Centrosome and Dna Damage Response In Plk4 Associated Seckel Syndrome

Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth failure. Seckel syndrome is the most common form of the MPD. Ten genes are known with Seckel syndrome. Using genome-wide SNP genotyping and homozygosity mapping we mapped a Seckel syndrome gene to chromosomal region 4q28.1-q28.3 in a Turkish family. Direct sequencing of PLK4 (polo-like kinase 4) revealed a homozygous splicing acceptor site transition (c.31-3 A>G) that results in a premature translation termination (p.[=,Asp11Profs*14]) causing deletion of all known functional domains of the protein. PLK4 is a master regulator of centriole biogenesis and its deficiency has recently been associated with Seckel syndrome. However, the role of PLK4 in genomic stability and the DNA damage response is unclear. Evaluation of the PLK4-Seckel fibroblasts obtained from patient revealed the expected impaired centriole biogenesis, disrupted mitotic morphology, G2/M delay, and extended cell doubling time. Analysis of the PLK4-Seckel cells indicated that PLK4 is also essential for genomic stability and DNA damage response. These findings provide mechanistic insight into the pathogenesis of the severe growth failure associated with PLK4-deficiency.WoSScopu