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https://www.readbyqxmd.com/read/28319849/the-association-between-three-major-physiological-stress-systems-and-oxidative-dna-and-lipid-damage
#1
Catherine N Black, Mariska Bot, Dóra Révész, Peter G Scheffer, Brenda Penninx
BACKGROUND: Increased activity of the three major physiological stress systems (immune-inflammatory system, hypothalamic-pituitary-adrenal-axis [HPA-axis], and autonomic nervous system [ANS]) is part of the pathophysiology of various somatic and psychiatric diseases. Oxidative damage is a key mechanism in both ageing and disease. Elucidating the relationship between these stress systems and oxidative damage would contribute to the understanding of the role of physiological stress in disease...
March 6, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28319737/relationship-between-c9orf72-repeat-size-and-clinical-phenotype
#2
REVIEW
Sara Van Mossevelde, Julie van der Zee, Marc Cruts, Christine Van Broeckhoven
Patient carriers of a C9orf72 repeat expansion exhibit remarkable heterogeneous clinical and pathological characteristics suggesting the presence of modifying factors. In accordance with other repeat expansion diseases, repeat length is the prime candidate as a genetic modifier. Observations of earlier onset ages in younger generations of large families suggested a mechanism of disease anticipation. Yet, studies of repeat size and onset age have led to conflicting results. Also, the correlation between repeat size and diagnosis is poorly understood...
March 17, 2017: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/28319733/plasma-cell-and-memory-b-cell-differentiation-from-the-germinal-center
#3
REVIEW
Dan Suan, Christopher Sundling, Robert Brink
Germinal centers (GCs) form in secondary lymphoid tissues in response to antigenic challenge and are the site of somatic hypermutation, generating GC B cells with increasing affinity for the inciting agent that are positively selected over time. However, it is not until GC B cells differentiate into memory B cells and plasma cells and egress from the GC back into the circulation that effective long-lived humoral immunity is conferred upon the host. Here we review what is known about the signals that initiate the transition from a GC B cell into the memory B cell and plasma cell compartments and the downstream transcriptional regulation of these processes...
March 16, 2017: Current Opinion in Immunology
https://www.readbyqxmd.com/read/28319687/effects-of-subclinical-depression-anxiety-and-somatization-on-brain-structure-in-healthy-subjects
#4
Bianca Besteher, Christian Gaser, Kerstin Langbein, Maren Dietzek, Heinrich Sauer, Igor Nenadić
BACKGROUND: Dimensional approaches in highly prevalent psychiatric disorders like depression or anxiety could lead to a better understanding of pathogenesis and advantages in early detection and prevention. In an effort to better understand associations of brain structural variation across the depression/anxiety spectra, we investigated minor subclinical symptoms in a non-clinical healthy population. METHODS: We studied 177 healthy subjects from the community, who underwent high-resolution T1-weighted 3T MRI and completed the symptom-checklist-90 (SCL-90-R)...
March 16, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28319112/accurate-identification-of-single-nucleotide-variants-in-whole-genome-amplified-single-cells
#5
Xiao Dong, Lei Zhang, Brandon Milholland, Moonsook Lee, Alexander Y Maslov, Tao Wang, Jan Vijg
Mutation analysis in single-cell genomes is prone to artifacts associated with cell lysis and whole-genome amplification. Here we addressed these issues by developing single-cell multiple displacement amplification (SCMDA) and a general-purpose single-cell-variant caller, SCcaller (https://github.com/biosinodx/SCcaller/). By comparing SCMDA-amplified single cells with unamplified clones from the same population, we validated the procedure as a firm foundation for standardized somatic-mutation analysis in single-cell genomics...
March 20, 2017: Nature Methods
https://www.readbyqxmd.com/read/28319063/compromised-brca1-palb2-interaction-is-associated-with-breast-cancer-risk
#6
T K Foo, M Tischkowitz, S Simhadri, T Boshari, N Zayed, K A Burke, S H Berman, P Blecua, N Riaz, Y Huo, Y C Ding, S L Neuhausen, B Weigelt, J S Reis-Filho, W D Foulkes, B Xia
The major breast cancer suppressor proteins BRCA1 and BRCA2 play essential roles in homologous recombination (HR)-mediated DNA repair, which is thought to be critical for tumor suppression. The two BRCA proteins are linked by a third tumor suppressor, PALB2, in the HR pathway. While truncating mutations in these genes are generally pathogenic, interpretation of missense variants remains a challenge. To date, patient-derived missense variants that disrupt PALB2 binding have been identified in BRCA1 and BRCA2; however, there has not been sufficient evidence to prove their pathogenicity in humans, and no variants in PALB2 that disrupt either its BRCA1 or BRCA2 binding have been reported...
March 20, 2017: Oncogene
https://www.readbyqxmd.com/read/28318580/the-canadian-national-dairy-study-2015-adoption-of-milking-practices-in-canadian-dairy-herds
#7
E Belage, S Dufour, C Bauman, A Jones-Bitton, D F Kelton
Several studies have investigated which management practices have the greatest effect on udder health, but little information is available on how broadly the recommended milking practices are adopted across Canada. The National Dairy Study 2015 was designed to gather dairy cattle health and management data on dairy farms across Canada. The objectives of the present study were to describe the current proportions of adoption of milking practices on Canadian dairy farms, and identify factors associated with their use on farms...
March 16, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28318578/relationships-between-body-condition-score-change-prior-mid-lactation-phenotypic-residual-feed-intake-and-hyperketonemia-onset-in-transition-dairy-cows
#8
Francesca M Rathbun, Ryan S Pralle, Sandra J Bertics, Louis E Armentano, K Cho, C Do, Kent A Weigel, Heather M White
Extensive efforts have been made to identify more feed-efficient dairy cows, yet it is unclear how selection for feed efficiency will influence metabolic health. The objectives of this research were to determine the relationships between residual feed intake (RFI), a measure of feed efficiency, body condition score (BCS) change, and hyperketonemia (HYK) incidence. Blood and milk samples were collected twice weekly from cows 5 to 18 d postcalving for a total of 4 samples. Hyperketonemia was diagnosed at a blood β-hydroxybutyrate (BHB) ≥1...
March 16, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28318414/the-prevalence-of-self-reported-premenstrual-symptoms-and-evaluation-of-regular-exercise-with-premenstrual-symptoms-among-female-employees-in-taiwan
#9
Su-Ying Tsai, Fu-Chen Kuo, Hsin-Chih Kuo, Li-Ling Liao
Few studies have focused on premenstrual symptoms in employees. This study explored the prevalence of premenstrual symptoms in 7,193 female employees aged 18-55 years in a large electronics manufacturer in Taiwan from August 2014 to December 2014 and examined whether regular exercise was associated with premenstrual symptoms. Information was collected on demographics, lifestyle, menstrual history, menstrual pain, and premenstrual symptoms. Half of the participants reported irregular menstruation; 79.4% reported a moderate menstruation amount, and half reported little impact of menstrual pain at work...
March 20, 2017: Women & Health
https://www.readbyqxmd.com/read/28318335/the-cognitive-affective-and-somatic-empathy-scales-cases-for-children
#10
Adrian Raine, Frances R Chen
Although the assessment of empathy has moved from general empathy to differentiating between cognitive and affective empathy, no instruments have assessed somatic (motor) empathy, and none have separated positive from negative affect empathy. The main objective of this study was to develop a 30-item self-report cognitive, affective, and somatic empathy scale (CASES) with positive and negative affect components for use with children and adolescents. A community sample of 428 male and female 11-year-olds completed the CASES together with validity questionnaires and were assessed on IQ...
March 20, 2017: Journal of Clinical Child and Adolescent Psychology
https://www.readbyqxmd.com/read/28318095/clinicopathologic-and-molecular-characterization-of-myeloid-neoplasms-with-isolated-t-6-9-p23-q34
#11
V Visconte, S Shetty, B Przychodzen, C Hirsch, J Bodo, J P Maciejewski, E D Hsi, H J Rogers
INTRODUCTION: The t(6;9)(p23;q34);DEK-NUP214 [t(6;9)] abnormality is found in 0.7-1.8% of patients with acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS). FLT3-ITD mutations are detected in t(6;9) patients. The t(6;9) abnormality is associated with poor outcomes. We studied the clinicopathologic and molecular profiles of patients with AML/MDS carrying t(6;9). METHODS: We collected clinical data of nine patients with AML/MDS with isolated t(6;9) (median age = 41 years; male/female = 4/5) and genotyped DNAs using whole exome, Sanger, and targeted sequencing...
March 20, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28317937/identification-of-cancer-associated-missense-mutations-in-hace1-that-impair-cell-growth-control-and-rac1-ubiquitylation
#12
Emilie Andrio, Romain Lotte, Daniel Hamaoui, Jacqueline Cherfils, Anne Doye, Mads Daugaard, Poul H Sorensen, Frédéric Bost, Raymond Ruimy, Amel Mettouchi, Emmanuel Lemichez
The E3 ubiquitin ligase HACE1 is a potent tumor suppressor that controls cell proliferation and ubiquitylates the small GTPase Rac1 to target it to proteasomal degradation. Whether and how the activity of HACE1 is regulated by the N-terminal ankyrin (ANK) and the middle (MID) domains is ill defined. Here, we identified in the version 64 of the Catalogue of Somatic Mutations in Cancer (COSMIC) 13 missense mutations of hace1 located outside the HECT domain, and found that all lead to defective control of cell proliferation...
March 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28317819/-correlation-of-chronic-periodontal-disease-and-cardiovascular-disease
#13
A I Grudyanov, O N Tkacheva, T V Avraamova
The aim of the study was to assess correlative risk of progression of inflammatory periodontal lesions, the development of a systemic inflammatory reaction and cardiovascular diseases. The study involved 89 patients with chronic periodontal disease (CPD) of varying degrees. High cardiovascular disease risk was revealed in 8.8% of patients with moderate and 13.3% of patients with severe periodontal disease. It is proved that an additional factor contributing to the pathogenic relationship between periodontal inflammatory changes and the development of cardiovascular disease is systemic inflammatory response with increased hrC-reactive protein >3...
2017: Stomatologii︠a︡
https://www.readbyqxmd.com/read/28317121/divergence-in-physiological-factors-affecting-swimming-performance-between-anadromous-and-resident-populations-of-brook-charr-salvelinus-fontinalis
#14
A Crespel, A Dupont-Prinet, L Bernatchez, G Claireaux, R Tremblay, C Audet
In this study, an anadromous strain (L) and a freshwater-resident (R) strain of brook charr Salvelinus fontinalis as well as their reciprocal hybrids, were reared in a common environment and submitted to swimming tests combined with salinity challenges. The critical swimming speeds (Ucrit ) of the different crosses were measured in both fresh (FW) and salt water (SW) and the variations in several physiological traits (osmotic, energetic and metabolic capacities) that are predicted to influence swimming performance were documented...
March 19, 2017: Journal of Fish Biology
https://www.readbyqxmd.com/read/28316284/facial-cutaneo-mucosal-venous-malformations-can-develop-independently-of-mutation-of-tek-gene-%C3%AF-but-may-be-associated-with-excessive-expression-of-src-and-p-src
#15
Nabila Brahami, Selvakumar Subramaniam, Moudjahed Saleh Al-Ddafari, Cecile Elkaim, Pierre-Olivier Harmand, Badr-Eddine Sari, Gérard Lefranc, Mourad Aribi
We aimed to search for mutations in the germline and somatic DNA of the TEK gene and to analyze the expression level of Src and phospho-Src (p-Src) in tumor and healthy tissues from patients with facial cutaneo-mucosal venous malformations (VMCM). Eligible patients from twelve families and thirty healthy controls were recruited respectively at the Departments of Stomatology and Oral Surgery, and Transfusion Medicine of Tlemcen University Medical Centre. Immunoblot analyses of Src and p-Src were performed after direct DNA sequencing...
March 20, 2017: Journal of Negative Results in Biomedicine
https://www.readbyqxmd.com/read/28315838/germline-proliferation-is-regulated-by-somatic-endocytic-genes-via-jnk-and-bmp-signaling-in-drosophila
#16
Yaning Tang, Qing Geng, Di Chen, Shaowei Zhao, Xian Liu, Zhaohui Wang
Signals derived from the microenvironment contribute greatly to tumorigenesis. The underlying mechanism requires thorough investigation. Here, we use Drosophila testis as a model system to address this question, taking the advantage of the ease to distinguish germline and somatic cells and to track the cell numbers. In an EMS mutagenesis screen, we identified Rab5, a key factor in endocytosis, for its non-autonomous role in germline proliferation. The disruption of Rab5 in somatic cyst cells, which escort the development of germline lineage, induced the over-proliferation of under-differentiated but genetically wild-type germ cells...
March 17, 2017: Genetics
https://www.readbyqxmd.com/read/28315836/a-phylogenetic-codon-substitution-model-for-antibody-lineages
#17
Kenneth B Hoehn, Gerton Lunter, Oliver G Pybus
Phylogenetic methods have shown promise in understanding the development of broadly neutralizing antibody lineages (bNAbs). However, the mutational process that generates these lineages -- somatic hypermutation -- is biased by hotspot motifs, which violates important assumptions in most phylogenetic substitution models. Here, we develop a modified GY94-type substitution model that partially accounts for this context-dependency while preserving independence of sites during calculation. This model shows a substantially better fit to three well-characterized bNAb lineages than the standard GY94 model...
March 17, 2017: Genetics
https://www.readbyqxmd.com/read/28315794/initiation-of-leaf-somatic-embryogenesis-involves-high-pectin-esterification-auxin-accumulation-and-dna-demethylation-in-quercus-alba
#18
Elena Corredoira, Vanesa Cano, Ivett Bárány, María-Teresa Solís, Héctor Rodríguez, Ana-María Vieitez, María C Risueño, Pilar S Testillano
Somatic embryogenesis is considered a convenient tool for investigating the regulating mechanisms of embryo formation; it is also a feasible system for in vitro regeneration procedures, with many advantages in woody species. Nevertheless, trees have shown recalcitrance to somatic embryogenesis, and its efficiency remains very low in many cases. Consequently, despite the clear potential of somatic embryogenesis in tree breeding programs, its application is limited since factors responsible for embryogenesis initiation have not yet been completely elucidated...
March 1, 2017: Journal of Plant Physiology
https://www.readbyqxmd.com/read/28315434/identifying-the-clonal-relationship-model-of-multifocal-papillary-thyroid-carcinoma-by-whole-genome-sequencing
#19
Mao Xia, Hengyu Li, Qian Ma, Dong Yu, Jing Li, Yi Zhang, Yuan Sheng, Yingjun Guo
PURPOSE: To evaluate the application of whole genome sequencing (WGS) in determining the inter-foci clonal relationship of multifocal papillary thyroid carcinoma (mPTC). METHODS: After reviewing PTC patient profiles, 8 cancer foci and germline control samples from 3 mPTC patients were analyzed by WGS. Single nucleotide variations (SNVs), copy number variation (CNV), structural variation and mutational signature were examined. RESULTS: The multifocality rate of PTC was 35...
March 14, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28315130/relationships-between-quality-of-life-in-the-psychological-domain-acceptance-of-illness-and-healthcare-services-in-patients-with-asthma
#20
Bożena Mroczek, Katarzyna Parzuchowska, Maria Jasińska-Starczewska, Tomasz Grodzki, Donata Kurpas
Asthma patients should be considered not only in terms of the medical aspects, but also the nonmedical issues associated with the psychological domain, since these are factors that can significantly improve patients' health state, quality of life, and illness acceptance, and can contribute to the reduction of healthcare utilization. The purpose of this study was to assess the acceptance of illness among asthma patients and their quality of life in the psychological domain, as well as to identify factors that influence illness acceptance and quality of life in the psychological domain...
March 18, 2017: Advances in Experimental Medicine and Biology
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