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https://www.readbyqxmd.com/read/28918392/cnvs-affecting-cancer-predisposing-genes-cpgs-detected-as-incidental-findings-in-routine-germline-diagnostic-chromosomal-microarray-cma-testing
#1
Josie Innes, Lisa Reali, Jill Clayton-Smith, Georgina Hall, Derek Hk Lim, George J Burghel, Kim French, Unzela Khan, Daniel Walker, Fiona Lalloo, D Gareth R Evans, Dominic McMullan, Eamonn R Maher, Emma R Woodward
BACKGROUND: Identification of CNVs through chromosomal microarray (CMA) testing is the first-line investigation in individuals with learning difficulties/congenital abnormalities. Although recognised that CMA testing may identify CNVs encompassing a cancer predisposition gene (CPG), limited information is available on the frequency and nature of such results. METHODS: We investigated CNV gains and losses affecting 39 CPGs in 3366 pilot index case individuals undergoing CMA testing, and then studied an extended cohort (n=10 454) for CNV losses at 105 CPGs and CNV gains at 9 proto-oncogenes implicated in inherited cancer susceptibility...
September 16, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28917235/reconfirmation-of-improved-tolerance-to-a-new-amino-acid-based-formula-by-infants-with-cow-s-milk-protein-allergy
#2
Pipop Jirapinyo, Narumon Densupsoontorn, Channagan Kangwanpornsiri, Renu Wongarn, Hathaichanok Tirapongporn, Kwanjai Chotipanang, Phakkanan Phuangphan
BACKGROUND AND OBJECTIVES: Reasons for intolerance to commercial amino acid-based formulas (cAAF) in infants diagnosed with cow's milk protein allergy (CMA) remain unknown. We assume that minute amounts of proteins, presenting in the glucose polymers derived from corn starch (cGPs), can elicit the intolerance to the cAAFs observed in some infants with CMA. By replacing cGPs with glucose polymers derived from rice starch (rGPs), a new amino acid-based (nAAF) formula has been shown to be better tolerated than an existing cAAF...
2017: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28916500/early-life-stress-modulates-neural-networks-associated-with-habitual-use-of-reappraisal
#3
Elissa El Khawli, Yan Fan, Sabine Aust, Katharina Wirth, Luisa Bönke, Amie Stevense, Ana Herrera, Sophie Metz, Andrea Loayza, Malek Bajbouj, Simone Grimm
Recent evidence shows that early life stress (ELS) is associated with altered resting-state functional connectivity (RSFC) between amygdala and the prefrontal cortex, as well as with maladaptive emotion regulation strategies and negative mood. However, the relation between ELS and maladaptive emotion regulation is not deterministic. Adaptive emotion regulation strategies such as reappraisal can also ensue from experience and learning in adulthood and can prevent negative mood. The present study aims to investigate the joint influence of ELS, in particular early-life emotional abuse (EA), and habitual use of reappraisal on amygdala-centered RSFC and mood...
September 12, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28915119/cytogenetic-analysis-in-fetuses-with-late-onset-abnormal-sonographic-findings
#4
Ron Bardin, Eran Hadar, Lylach Haizler-Cohen, Rinat Gabbay-Benziv, Israel Meizner, Sarit Kahana, Josepha Yeshaya, Shiri Yacobson, Lital Cohen-Vig, Ifaat Agmon-Fishman, Lina Basel-Vanagaite, Idit Maya
OBJECTIVE: To determine the rate of chromosomal cytogenetic abnormalities in fetuses with late onset abnormal sonographic findings. DESIGN: Retrospective cohort of women who underwent amniocentesis at or beyond 23 weeks of gestation, for fetal karyotype and chromosomal microarray analysis, indicated due to late onset abnormal sonographic findings. RESULTS: All 103 fetuses had a normal karyotype. Ninety-five women also had chromosomal microarray analysis (CMA) performed...
September 15, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28912621/faqs-from-the-2012-cma-annual-conference
#5
(no author information available yet)
No abstract text is available yet for this article.
August 2017: Linacre Quarterly
https://www.readbyqxmd.com/read/28905509/de-novo-setd5-loss-of-function-variant-as-a-cause-for-intellectual-disability-in-a-10-year-old-boy-with-an-aberrant-blind-ending-bronchus
#6
Claire Green, Joshua Willoughby, Meena Balasubramanian
Although rare, 3p microdeletion cases have been well described in the clinical literature. The clinical phenotype includes; intellectual disability (ID), growth retardation, facial dysmorphism, and cardiac malformations. Advances in chromosome microarray (CMA) testing narrowed the 3p25 critical region to a 124 kb region, and recent Whole Exome Sequencing (WES) studies have suggested that the SETD5 gene contributes significantly to the 3p25 phenotype. Loss-of-Function (LoF) variants in SETD5 are now considered a likely cause of ID...
September 14, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28902922/molecular-clustering-of-patients-with-diabetes-and-pulmonary-tuberculosis-a-systematic-review-and-meta-analysis
#7
Francles Blanco-Guillot, Guadalupe Delgado-Sánchez, Norma Mongua-Rodríguez, Pablo Cruz-Hervert, Leticia Ferreyra-Reyes, Elizabeth Ferreira-Guerrero, Mercedes Yanes-Lane, Rogelio Montero-Campos, Miriam Bobadilla-Del-Valle, Pedro Torres-González, Alfredo Ponce-de-León, José Sifuentes-Osornio, Lourdes Garcia-Garcia
INTRODUCTION: Many studies have explored the relationship between diabetes mellitus (DM) and tuberculosis (TB) demonstrating increased risk of TB among patients with DM and poor prognosis of patients suffering from the association of DM/TB. Owing to a paucity of studies addressing this question, it remains unclear whether patients with DM and TB are more likely than TB patients without DM to be grouped into molecular clusters defined according to the genotype of the infecting Mycobacterium tuberculosis bacillus...
2017: PloS One
https://www.readbyqxmd.com/read/28894984/multifidelity-cma-a-multifidelity-approach-for-efficient-personalisation-of-3d-cardiac-electromechanical-models
#8
Roch Molléro, Xavier Pennec, Hervé Delingette, Alan Garny, Nicholas Ayache, Maxime Sermesant
Personalised computational models of the heart are of increasing interest for clinical applications due to their discriminative and predictive abilities. However, the simulation of a single heartbeat with a 3D cardiac electromechanical model can be long and computationally expensive, which makes some practical applications, such as the estimation of model parameters from clinical data (the personalisation), very slow. Here we introduce an original multifidelity approach between a 3D cardiac model and a simplified "0D" version of this model, which enables to get reliable (and extremely fast) approximations of the global behaviour of the 3D model using 0D simulations...
September 11, 2017: Biomechanics and Modeling in Mechanobiology
https://www.readbyqxmd.com/read/28893892/cma-must-address-physician-burnout-pharmacare-say-doctors
#9
Lauren Vogel
No abstract text is available yet for this article.
September 11, 2017: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/28893891/health-leaders-must-share-the-reins-of-reform-outgoing-cma-pres
#10
Lauren Vogel
No abstract text is available yet for this article.
September 11, 2017: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/28893890/healthier-doctors-means-healthier-patients-cma-president-elect
#11
Roger Collier
No abstract text is available yet for this article.
September 11, 2017: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/28893889/lively-debate-on-disability-insurance-for-medical-students-at-cma-meeting
#12
Roger Collier
No abstract text is available yet for this article.
September 11, 2017: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/28893888/focus-on-patients-the-rest-will-follow-says-new-cma-pres
#13
Lauren Vogel
No abstract text is available yet for this article.
September 11, 2017: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/28893885/physicians-debate-tax-reforms-at-cma-annual-meeting
#14
Roger Collier
No abstract text is available yet for this article.
September 11, 2017: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/28893883/cma-s-new-mission-and-vision-statements-rankle-some-members
#15
Roger Collier
No abstract text is available yet for this article.
September 11, 2017: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/28893881/cma-votes-for-review-of-medical-liability-system
#16
Roger Collier
No abstract text is available yet for this article.
September 11, 2017: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/28891592/decreased-gaba-levels-in-the-brainstem-in-patients-with-possible-sleep-bruxism-a-pilot-study
#17
Xiao Fan, Fang Qu, Ji-Jun Wang, Xue Du, Wei-Cai Liu
BACKGROUND: An increasing number of studies have indicated that the central and autonomic nervous systems play roles in the genesis of sleep bruxism (SB). The role of specific neurochemicals in SB has been a subject of interest. OBJECTIVE: In this study, we use proton magnetic resonance spectroscopy ((1) H-MRS) to determine whether the levels of γ-aminobutyric acid (GABA) and glutamate (Glu) are different in the brainstem and bilateral cortical masticatory area (CMA) between possible sleep bruxism (SB) patients and controls, and discuss whether the brainstem or cortical networks which may affect the central masticatory pathways are under the genesis of SB...
September 11, 2017: Journal of Oral Rehabilitation
https://www.readbyqxmd.com/read/28889126/chromosomal-microarray-analysis-in-fetuses-with-growth-restriction-and-normal-karyotype-a-systematic-review-and-meta-analysis
#18
Antoni Borrell, Maribel Grande, Montse Pauta, Laia Rodriguez-Revenga, Francesc Figueras
OBJECTIVE: To perform a systematic review of the literature and a meta-analysis to estimate the incremental yield of chromosomal microarray analysis (CMA) over karyotyping in fetal growth restriction (FGR). METHODS: This was a systematic review conducted in accordance with the PRISMA criteria. All articles identified in PubMed, Ovid Medline, and ISI Web of Knowledge (Web of Science) from January 2009 to November 2016 describing pathogenic copy number variants (CNVs) in fetuses with growth restriction were included...
September 9, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28882078/detection-of-fetal-duplication-16p11-2q12-1-by-next-generation-sequencing-of-maternal-plasma-and-invasive-diagnosis
#19
Min Chen, Xiao-Ying Fu, Yu-Qin Luo, Ye-Qing Qian, Ling Pan, Li-Ya Wang, Min-Yue Dong
OBJECTIVE: The objective of study is to report the feasibility of non-invasive prenatal screening (NIPS) combined with invasive detection by chromosomal analysis in identifying fetal duplication, providing clinical performance of NIPS on copy number variations (CNVs) detection. MATERIAL AND METHODS: NIPS was offered to a 35-year-old pregnant woman. Amniocentesis was performed to confirm the positive screening result. Fetal sample was detected by karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray (CMA)...
September 7, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28881704/chaperone-mediated-autophagy-substrate-proteins-in-cancer
#20
REVIEW
Ying Tang, Xiong-Wen Wang, Zhan-Hua Liu, Yun-Ming Sun, Yu-Xin Tang, Dai-Han Zhou
All intracellular proteins undergo continuous synthesis and degradation. Chaperone-mediated autophagy (CMA) is necessary to maintain cellular homeostasis through turnover of cytosolic proteins (substrate proteins). This degradation involves a series of substrate proteins including both cancer promoters and suppressors. Since activating or inhibiting CMA pathway to treat cancer is still debated, targeting to the CMA substrate proteins provides a novel direction. We summarize the cancer-associated substrate proteins which are degraded by CMA...
August 1, 2017: Oncotarget
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