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https://www.readbyqxmd.com/read/28934765/qualitative-study-the-experience-and-impact-of-living-with-behcet-s-syndrome
#1
Vicky Tai, Karen Lindsay, Joanne L Sims, Fiona M McQueen
AIM: Behcet's syndrome is a rare chronic multisystemic vasculitis of unknown aetiology, is unpredictable and can cause life-threatening complications. This qualitative study aims to explore the experiences of patients living with Behcet's syndrome in New Zealand. METHODS: Eight English-speaking patients participated in in-depth semi-structured interviews about their experiences of living with Behcet's syndrome. Interviews were recorded and transcribed. Data were analysed using a general inductive thematic approach...
September 22, 2017: New Zealand Medical Journal
https://www.readbyqxmd.com/read/28934528/the-impact-of-altitude-on-sleep-disordered-breathing-in-children-dwelling-at-high-altitude-a-crossover-study
#2
Benjamin H Hughes, John T Brinton, David G Ingram, Ann C Halbower
Study Objectives: Sleep-disordered breathing (SDB) is prevalent among children and is associated with adverse health outcomes. Worldwide, approximately 250 million individuals reside at altitudes higher than 2000 meters above sea level (masl). The effect of chronic high-altitude exposure on children with SDB is unknown. This study aims to determine the impact of altitude on sleep study outcomes in children with SDB dwelling at high altitude. Methods: A single-center crossover study was performed to compare results of high-altitude home polysomnography (H-PSG) with lower altitude laboratory polysomnography (L-PSG) in school-age children dwelling at high altitude with symptoms consistent with SDB...
September 1, 2017: Sleep
https://www.readbyqxmd.com/read/28934477/a-structural-map-of-oncomir-1-at-single-nucleotide-resolution
#3
Saikat Chakraborty, Yamuna Krishnan
The miR-17-92a cluster, also known as 'oncomiR-1', is an RNA transcript that plays a pivotal regulatory role in cellular processes, including the cell cycle, proliferation and apoptosis. Its dysregulation underlies the development of several cancers. Oncomir-1 comprises six constituent miRNAs, each processed with different efficiencies as a function of both developmental time and tissue type. The structural mechanisms that regulate such differential processing are unknown, and this has impeded our understanding of the dysregulation of oncomiR-1 in pathophysiology...
September 19, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28934387/mutations-in-tgm6-induce-the-unfolded-protein-response-in-sca35
#4
Debasmita Tripathy, Beatrice Vignoli, Nandini Ramesh, Maria Jose Polanco, Marie Coutelier, Christopher D Stephen, Marco Canossa, Marie-Lorraine Monin, Pascale Aeschlimann, Shannon Turberville, Daniel Aeschlimann, Jeremy D Schmahmann, Marios Hadjivassiliou, Alexandra Durr, Udai B Pandey, Maria Pennuto, Manuela Basso
Spinocerebellar ataxia type 35 (SCA35) is a rare autosomal-dominant neurodegenerative disease caused by mutations in the TGM6 gene, which codes for transglutaminase 6 (TG6). Mutations in TG6 induce cerebellar degeneration by an unknown mechanism. We identified seven patients bearing new mutations in TGM6. To gain insights into the molecular basis of mutant TG6-induced neurotoxicity, we analyzed all the seven new TG6 mutants and the five TG6 mutants previously linked to SCA35. We found that the wild-type (TG6-WT) protein mainly localized to the nucleus and perinuclear area, whereas five TG6 mutations showed nuclear depletion, increased accumulation in the perinuclear area, insolubility and loss of enzymatic function...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28933587/the-pro-apoptotic-bax-protein-influences-cell-growth-and-differentiation-from-the-nucleus-in-healthy-interphasic-cells
#5
Stéphanie Brayer, Audrey Joannes, Madeleine Jaillet, Elisa Gregianin, Souhir Mahmoudi, Joëlle Marchal Sommé, Aurélie Fabre, Pierre Mordant, Aurélie Cazes, Bruno Crestani, Arnaud A Mailleux
It has become more and more evident that the BCL-2 family proteins mediate a wide range of non-apoptotic functions. The pro-apoptotic BAX protein has been reported in interphasic nuclei. Whether the nuclear form of BAX could be involved in non-apoptotic function is still unknown. Our study showed for the first time that BAX was associated with chromatin in vitro. Next, we used gain and loss of function approaches to decipher the potential role of nuclear BAX in non-apoptotic cells. In vitro, nuclear BAX promoted cell proliferation in lung epithelial cells and primary human lung fibroblasts by modulating CDKN1A expression...
September 21, 2017: Cell Cycle
https://www.readbyqxmd.com/read/28933519/skin-metastasis-review-with-conceptual-and-practical-guide
#6
Martin R Dittmer, Vincent Liu
Of the outward manifestations of visceral malignancy, cutaneous metastases are of particular interest for their impact on identification, prognosis, and management of the primary tumor. Their diagnosis is often challenging and requires high clinical suspicion. The infrequency and clinicopathologic variability of cutaneous metastases can impede their recognition by physical exam and even histopathology. This review offers a practical approach to judicious utilization of the full repertoire of clinical and pathologic data in precise characterization of metastases to the skin...
September 20, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28932917/the-met-needs-for-pediatric-surgical-conditions-in-sierra-leone-estimating-the-gap
#7
Carmen Mesas Burgos, Håkon Angell Bolkan, Donald Bash-Taqi, Lars Hagander, Johan Von Screeb
BACKGROUND: In low- and middle-income countries, there is a gap between the need for surgery and its equitable provision, and a lack of proxy indicators to estimate this gap. Sierra Leone is a West African country with close to three million children. It is unknown to what extent the surgical needs of these children are met. AIM: To describe a nationwide provision of pediatric surgical procedures and to assess pediatric hernia repair as a proxy indicator for the shortage of surgical care in the pediatric population in Sierra Leone...
September 20, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28932808/two-sisters-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-and-serous-adenocarcinoma-of-the-ovary
#8
Sarah P Huepenbecker, Laura Divine, Christina S Chu, David G Mutch
BACKGROUND: Mayer-Rokitansky-Küster-Hauser syndrome is a rare entity with proposed genetic underpinnings. Ovarian carcinoma has well-described genetic associations and syndromes, although much of the etiology of the disease remains unknown. CASES: Two sisters present in the 1970s with primary amenorrhea, 46, XX karyotypes, and absent uteri consistent with MRKH syndrome. In the 2010s, both sisters again present for care. Case 1 presents one sister with stage IIIC serous ovarian adenocarcinoma and negative BRCA panel...
November 2017: Gynecologic Oncology Reports
https://www.readbyqxmd.com/read/28932579/patient-reported-outcomes-following-video-assisted-thoracoscopic-vats-resection-or-stereotactic-ablative-body-radiotherapy-sabr-for-treatment-of-non-small-cell-lung-cancer-protocol-for-an-observational-pilot-study-lilac
#9
Cecilia Pompili, Kevin N Franks, Alessandro Brunelli, Yusuf S Hussain, Patricia Holch, Matthew E Callister, Jonathan M Robson, Kostas Papagiannopoulos, Galina Velikova
BACKGROUND: Lung cancer is increasingly a disease of the elderly and frail population with a median age of 70 years at diagnosis. Therefore, consideration of the impact of interventions on health-related quality of life (HRQOL) and not only absolute survival is especially important. For non-small cell lung cancer (NSCLC), video-assisted thoracoscopic surgery (VATS) has been gaining popularity over the last few decades, replacing traditional open lobectomies. For high-risk patients who are not deemed suitable for surgery, stereotactic ablative body radiotherapy (SABR) provides a potentially curative alternative...
August 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28932189/delayed-mismatch-field-latencies-in-autism-spectrum-disorder-with-abnormal-auditory-sensitivity-a-magnetoencephalographic-study
#10
Junko Matsuzaki, Kuriko Kagitani-Shimono, Hisato Sugata, Ryuzo Hanaie, Fumiyo Nagatani, Tomoka Yamamoto, Masaya Tachibana, Koji Tominaga, Masayuki Hirata, Ikuko Mohri, Masako Taniike
Although abnormal auditory sensitivity is the most common sensory impairment associated with autism spectrum disorder (ASD), the neurophysiological mechanisms remain unknown. In previous studies, we reported that this abnormal sensitivity in patients with ASD is associated with delayed and prolonged responses in the auditory cortex. In the present study, we investigated alterations in residual M100 and MMFs in children with ASD who experience abnormal auditory sensitivity. We used magnetoencephalography (MEG) to measure MMF elicited by an auditory oddball paradigm (standard tones: 300 Hz, deviant tones: 700 Hz) in 20 boys with ASD (11 with abnormal auditory sensitivity: mean age, 9...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28931820/the-non-canonical-poly-a-polymerase-fam46c-acts-as-an-onco-suppressor-in-multiple-myeloma
#11
Seweryn Mroczek, Justyna Chlebowska, Tomasz M Kuliński, Olga Gewartowska, Jakub Gruchota, Dominik Cysewski, Vladyslava Liudkovska, Ewa Borsuk, Dominika Nowis, Andrzej Dziembowski
FAM46C is one of the most frequently mutated genes in multiple myeloma. Here, using a combination of in vitro and in vivo approaches, we demonstrate that FAM46C encodes an active non-canonical poly(A) polymerase which enhances mRNA stability and gene expression. Reintroduction of active FAM46C into multiple myeloma cell lines, but not its catalytically-inactive mutant, leads to broad polyadenylation and stabilization of mRNAs strongly enriched with those encoding endoplasmic reticulum-targeted proteins and induces cell death...
September 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/28931608/non-uniform-surround-suppression-of-visual-responses-in-mouse-v1
#12
Jason M Samonds, Berquin D Feese, Tai Sing Lee, Sandra Kuhlman
Complex receptive field characteristics, distributed across a population of neurons, are thought to be critical for solving perceptual inference problems that arise during motion and image segmentation. For example, in a class of neurons referred to as 'end-stopped', increasing the length of stimuli outside of the bar-responsive region into the surround suppresses responsiveness. It is unknown whether these properties exist for receptive field surrounds in the mouse. We examined surround modulation in layer 2/3 neurons of the primary visual cortex in mice using two-photon calcium imaging...
September 20, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28931182/-primary-open-angle-glaucoma
#13
Esther M Hoffmann, Verena Prokosch-Willing
Glaucoma leads to blindness but there are diagnostic and therapeutic developments that aid ophthalmologists in the improved mangement of the disease compared to the past. Known risk factors such as age, myopia, dark pigmented skin, genetics, and elevated intraocular pressure play an important role for the individual patient's prognosis, and many yet unknown or not sufficiently investigated risk factors come along. The structured examination of the optic nerve head is crucial for the clincial diagnosis by the ophthalmologist...
September 20, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28930973/intracortical-inhibition-within-the-primary-motor-cortex-can-be-modulated-by-changing-the-focus-of-attention
#14
Yves-Alain Kuhn, Martin Keller, Jan Ruffieux, Wolfgang Taube
It is well recognized that an external focus (EF) compared with an internal focus (IF) of attention improves motor learning and performance. Studies have indicated benefits in accuracy, balance, force production, jumping performance, movement speed, oxygen consumption, and fatiguing task. Although behavioral outcomes of using an EF strategy are well explored, the underlying neural mechanisms remain unknown. A recent TMS study compared the activity of the primary motor cortex (M1) between an EF and an IF. More precisely, this study showed that, when adopting an EF, the activity of intracortical inhibitory circuits is enhanced...
September 11, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28930478/mechanical-ventilation-induced-diaphragm-atrophy-strongly-impacts-clinical-outcomes
#15
Ewan C Goligher, Martin Dres, Eddy Fan, Gordon D Rubenfeld, Damon C Scales, Margaret S Herridge, Stefannie Vorona, Michael C Sklar, Nuttapol Rittayamai, Ashley Lanys, Alistair Murray, Deborah Brace, Cristian Urrea, W Darlene Reid, George Tomlinson, Arthur S Slutsky, Brian P Kavanagh, Laurent J Brochard, Niall D Ferguson
Rationale Diaphragm dysfunction worsens outcomes in mechanically ventilated patients but the clinical impact of potentially preventable changes in diaphragm structure and function due to mechanical ventilation is unknown. Objectives To determine whether diaphragm atrophy developing during mechanical ventilation leads to prolonged ventilation. Methods Diaphragm thickness was measured daily by ultrasound in adults requiring invasive mechanical ventilation; inspiratory effort was assessed by thickening fraction...
September 20, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28929313/an-anti-propionibacterium-acnes-antibody-shows-heterologous-resistance-to-an-actinobacillus-pleuropneumoniae-infection-independent-of-neutrophils-in-mice
#16
Jian-Fang Liu, Qiu-Yue Ma, Ri-Ning Zhu, Meng-Jun Cheng, Chun-Tong Bao, Jing-Min Gu, Chang-Jiang Sun, Paul Richard Langford, Wen-Yu Han, Lian-Cheng Lei
Porcine contagious pleuropneumonia is a highly fatal respiratory disease that is caused by Actinobacillus pleuropneumoniae (APP) and results in tremendous economic losses for the pig breeding industry worldwide. Previous studies have demonstrated that Propionibacterium acnes (PA) could effectively prevent APP infection in mice and pigs. The humoral immune response played a primary role during this process and anti-PA antibody could mediate macrophages to kill the bacteria. However, the role of neutrophils in this process is currently unknown...
September 20, 2017: Immunologic Research
https://www.readbyqxmd.com/read/28928394/rna-localization-is-a-key-determinant-of-neurite-enriched-proteome
#17
Alessandra Zappulo, David van den Bruck, Camilla Ciolli Mattioli, Vedran Franke, Koshi Imami, Erik McShane, Mireia Moreno-Estelles, Lorenzo Calviello, Andrei Filipchyk, Esteban Peguero-Sanchez, Thomas Müller, Andrew Woehler, Carmen Birchmeier, Enrique Merino, Nikolaus Rajewsky, Uwe Ohler, Esteban O Mazzoni, Matthias Selbach, Altuna Akalin, Marina Chekulaeva
Protein subcellular localization is fundamental to the establishment of the body axis, cell migration, synaptic plasticity, and a vast range of other biological processes. Protein localization occurs through three mechanisms: protein transport, mRNA localization, and local translation. However, the relative contribution of each process to neuronal polarity remains unknown. Using neurons differentiated from mouse embryonic stem cells, we analyze protein and RNA expression and translation rates in isolated cell bodies and neurites genome-wide...
September 19, 2017: Nature Communications
https://www.readbyqxmd.com/read/28928383/human-stem-cells-alter-the-invasive-properties-of-somatic-cells-via-paracrine-activation-of-mtorc1
#18
Margit Rosner, Ha Thi Thanh Pham, Richard Moriggl, Markus Hengstschläger
Controlled invasion is essential during many physiological processes, whereas its deregulation is a hallmark of cancer. Here we demonstrate that embryonic, induced pluripotent and amniotic fluid stem cells share the property to induce the invasion of primary somatic cells of various origins through insulin-like growth factor I (IGF-I)- or II (IGF-II)-mediated paracrine activation of mechanistic target of rapamycin complex 1 (mTORC1). We propose a model in which downstream of mTORC1 this stem cell-induced invasion is mediated by hypoxia-inducible factor 1-alpha (HIF-1α)-regulated matrix metalloproteinases...
September 19, 2017: Nature Communications
https://www.readbyqxmd.com/read/28928281/engrailed-acts-with-nejire-to-control-decapentaplegic-expression-in-the-drosophila-ovarian-stem-cell-niche
#19
Lichao Luo, Chia Keng Siah, Yu Cai
Homeostasis of adult tissues is maintained by a small number of stem cells, which are sustained by their niches. In the Drosophila female germline stem cell (GSC) niche, Decapentaplegic (Dpp) is the primary factor that promotes GSC self-renewal. However, the mechanism regulating dpp expression in the niche is largely unknown. Here, we identify a 2.0 kb fragment located in a 5' cis-regulatory region of the dpp locus containing enhancer activity that drives its expression in the niche. This region is distinct from a previously characterized 3' cis-regulatory enhancer responsible for dpp expression in imaginal discs...
September 15, 2017: Development
https://www.readbyqxmd.com/read/28927181/relationship-of-depression-screening-in-cardiometabolic-disease-with-vascular-events-and-mortality-findings-from-a-large-primary-care-cohort-with-4-years-follow-up
#20
Bhautesh Dinesh Jani, Charles Boachie, Colin McCowan, Sarah J E Barry, Jonathan Cavanagh, Frances S Mair
Aims: Benefits of routine depression screening for cardiometabolic disease patients remain unclear. We examined the association between depression screening and all-cause mortality and vascular events in cardiometabolic disease patients. Methods and results: 125 143 patients with cardiometabolic diseases (coronary heart disease, diabetes or previous stroke) in the UK participated in primary care chronic disease management in 2008/09, which included depression screening using the Hospital Anxiety and Depression Score...
January 1, 2017: European Heart Journal. Quality of Care & Clinical Outcomes
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