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https://www.readbyqxmd.com/read/29350460/three-generation-family-with-novel-contiguous-gene-deletion-on-chromosome-2p22-associated-with-thoracic-aortic-aneurysm-syndrome
#1
Bianca Quiñones-Pérez, Grace E VanNoy, Meghan C Towne, Yiping Shen, Michael N Singh, Pankaj B Agrawal, Sharon E Smith
Latent transforming growth factor binding proteins (LTBP) are a family of extracellular matrix glycoproteins that play an important role in the regulation of transforming growth factor beta (TGF-ß) activation. Dysregulation of the TGF-ß pathway has been implicated in the pathogenesis of inherited disorders predisposing to thoracic aortic aneurysms syndromes (TAAS) including Marfan syndrome (MFS; FBN1) and Loeys-Dietz syndrome (LDS; TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3). While these syndromes have distinct clinical criteria, they share clinical features including aortic root dilation and musculoskeletal findings...
January 19, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29345750/mobility-trajectories-at-the-end-of-life-comparing-clinical-condition-and-latent-class-approaches
#2
June R Lunney, Steven M Albert, Robert Boudreau, Diane Ives, Suzanne Satterfield, Anne B Newman, Tamara Harris
OBJECTIVES: To assess mobility disability trajectories before death in a large sample of very old adults using two analytical approaches to determine how well they corresponded. DESIGN: Decedent sample from the Health, Aging and Body Composition (Health ABC) Study. Data were collected between 1997 and 2015. SETTING: Pittsburgh, Pennsylvania, and Memphis, Tennessee. PARTICIPANTS: Individuals randomly selected from well-functioning white Medicare beneficiaries and all black community residents meeting age criteria (70-79) (N = 3,075)...
January 18, 2018: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/29345000/cell-death-under-epithelial-mesenchymal-transition-control-in-prostate-cancer-therapeutic-response
#3
REVIEW
Diane Begemann, Harry Anastos, Natasha Kyprianou
Prostate cancer is a widespread problem among men, with >160 000 new cases in 2017 alone. Androgen deprivation therapy is commonly used in prostate cancer treatment to block androgens required for cancer growth, but disease relapse after androgen deprivation therapy is both common and severe. Changes in androgen receptor signaling from androgen deprivation therapy have been linked to therapeutic resistance and tumor progression. Resistant cells can become reprogrammed to undergo epithelial-mesenchymal transition, a phenotypic switch from benign, epithelial cells to a mobile cell with mesenchymal traits...
January 17, 2018: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/29340541/safety-criteria-to-start-early-mobilization-in-intensive-care-units-systematic-review
#4
Thais Martins Albanaz da Conceição, Ana Inês Gonzáles, Fernanda Cabral Xavier Sarmento de Figueiredo, Danielle Soares Rocha Vieira, Daiana Cristine Bündchen
Mobilization of critically ill patients admitted to intensive care units should be performed based on safety criteria. The aim of the present review was to establish which safety criteria are most often used to start early mobilization for patients under mechanical ventilation admitted to intensive care units. Articles were searched in the PubMed, PEDro, LILACS, Cochrane and CINAHL databases; randomized and quasi-randomized clinical trials, cohort studies, comparative studies with or without simultaneous controls, case series with 10 or more consecutive cases and descriptive studies were included...
October 2017: Revista Brasileira de Terapia Intensiva
https://www.readbyqxmd.com/read/29339773/postural-adaptations-to-unilateral-knee-joint-hypomobility-induced-by-orthosis-wear-during-gait-initiation
#5
A Delafontaine, P Fourcade, J L Honeine, S Ditcharles, E Yiou
Balance control and whole-body progression during gait initiation (GI) involve knee-joint mobility. Single knee-joint hypomobility often occurs with aging, orthopedics or neurological conditions. The goal of the present study was to investigate the capacity of the CNS to adapt GI organization to single knee-joint hypomobility induced by the wear of an orthosis. Twenty-seven healthy adults performed a GI series on a force-plate in the following conditions: without orthosis ("control"), with knee orthosis over the swing leg ("orth-swing") and with the orthosis over the contralateral stance leg ("orth-stance")...
January 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29338722/development-and-pilot-evaluation-of-a-clinic-based-mhealth-app-referral-service-to-support-adult-cancer-survivors-increase-their-participation-in-physical-activity-using-publicly-available-mobile-apps
#6
Camille E Short, Amy Finlay, Ilea Sanders, Carol Maher
BACKGROUND: Participation in regular physical activity holds key benefits for cancer survivors, yet few cancer survivors meet physical activity recommendations. This study aimed to develop and pilot test a mHealth app referral service aimed at assisting cancer survivors to increase their physical activity. In particular, the study sought to examine feasibility and acceptability of the service and determine preliminary efficacy for physical activity behaviour change. METHODS: A systematic search identified potentially appropriate Apple (iOS) and Android mHealth apps...
January 16, 2018: BMC Health Services Research
https://www.readbyqxmd.com/read/29335522/pyruvate-kinase-m2-promotes-pancreatic-ductal-adenocarcinoma-invasion-and-metastasis-through-phosphorylation-and-stabilization-of-pak2-protein
#7
Tsu-Yao Cheng, Yi-Chieh Yang, Hsiu-Po Wang, Yu-Wen Tien, Chia-Tung Shun, Hsin-Yi Huang, Michael Hsiao, Kuo-Tai Hua
Pyruvate kinase muscle isozymes (PKMs) have crucial roles in regulating metabolic changes during carcinogenesis. A switch from PKM1 to PKM2 isoform was thought to lead to aerobic glycolysis promoting carcinogenesis, and was considered as one of the cancer signatures. However, recent evidence has argued against the existence of PKM isoform switch and related metabolic effects during cancer progression. We compared the effects of PKM1 and PKM2 in cell invasiveness and metastasis of pancreatic ductal adenocarcinoma (PDAC)...
January 16, 2018: Oncogene
https://www.readbyqxmd.com/read/29335232/smartphone-app-using-mindfulness-meditation-for-women-with-chronic-pelvic-pain-memphis-protocol-for-a-randomized-feasibility-trial
#8
Elizabeth Ball, Sian Newton, Brennan C Kahan, Gordon Forbes, Neil Wright, Clara Cantalapiedra Calvete, Harry A L Gibson, Ewelina Rogozinska, Carol Rivas, Stephanie J C Taylor, Judy Birch, Julie Dodds
BACKGROUND: Female chronic pelvic pain (CPP) is defined as intermittent or constant pelvic or lower abdominal pain occurring in a woman for at least 6 months. Up to a quarter of women are estimated to be affected by CPP worldwide and it is responsible for one fifth of specialist gynecological referrals in the United Kingdom. Psychological interventions are commonly utilized. As waiting times and funding capacity impede access to face-to-face consultations, supported self-management (SSM) has emerged as a viable alternative...
January 15, 2018: JMIR Research Protocols
https://www.readbyqxmd.com/read/29331668/earlier-and-enhanced-rehabilitation-of-mechanically-ventilated-patients-in-critical-care-a-feasibility-randomised-controlled-trial
#9
David McWilliams, Charlotte Jones, Gemma Atkins, James Hodson, Tony Whitehouse, Tonny Veenith, Emma Reeves, Lauren Cooper, Catherine Snelson
BACKGROUND: Systematic reviews of early rehabilitation within intensive care units have highlighted the need for robust multi-centre randomised controlled trials with longer term follow up. This trial aims to explore the feasibility of earlier and enhanced rehabilitation for patients mechanically ventilated for ≥5days and to assess the impact on possible long term outcome measures for use in a definitive trial. METHODS: Patients admitted to a large UK based intensive care unit and invasively ventilated for ≥5days were randomised to the rehabilitation intervention or standard care on a 1:1 basis, stratified by age and SOFA score...
January 4, 2018: Journal of Critical Care
https://www.readbyqxmd.com/read/29331134/coarse-grained-model-of-nanoscale-segregation-water-diffusion-and-proton-transport-in-nafion-membranes
#10
Aleksey Vishnyakov, Runfang Mao, Ming-Tsung Lee, Alexander V Neimark
We present a coarse-grained model of the acid form of Nafion membrane that explicitly includes proton transport. This model is based on a soft-core bead representation of the polymer implemented into the dissipative particle dynamics (DPD) simulation framework. The proton is introduced as a separate charged bead that forms dissociable Morse bonds with water beads. Morse bond formation and breakup artificially mimics the Grotthuss hopping mechanism of proton transport. The proposed DPD model is parameterized to account for the specifics of the conformations and flexibility of the Nafion backbone and sidechains; it treats electrostatic interactions in the smeared charge approximation...
January 14, 2018: Journal of Chemical Physics
https://www.readbyqxmd.com/read/29330707/effects-of-periodontal-treatment-on-carotid-intima-media-thickness-in-patients-with-lifestyle-related-diseases-japanese-prospective-multicentre-observational-study
#11
Chieko Kudo, Wee Soo Shin, Nobuhiro Sasaki, Kazuo Harai, Kai Kato, Hiroaki Seino, Eiji Goke, Takemasa Fujino, Nobuichi Kuribayashi, Youko Onuki Pearce, Masato Taira, Ryoji Matsushima, Masato Minabe, Shogo Takashiba
Atherosclerosis, a chronic inflammatory disease in arterial blood vessels, is one of the major causes of death in worldwide. Meanwhile, periodontal disease is a chronic inflammatory disease caused by infection with periodontal pathogens such as P. gingivalis (Porphyromonas gingivalis). Several studies have reported association between periodontal infection and atherosclerosis, but direct investigation about the effects of periodontal treatment on atherosclerosis has not been reported. We have planned Japanese local clinics to determine the relationship between periodontal disease and atherosclerosis under collaborative with medical and dental care...
January 12, 2018: Odontology
https://www.readbyqxmd.com/read/29329530/design-and-evaluation-of-a-mobile-application-to-assist-the-self-monitoring-of-the-chronic-kidney-disease-in-developing-countries
#12
Alvaro Sobrinho, Leandro Dias da Silva, Angelo Perkusich, Maria Eliete Pinheiro, Paulo Cunha
BACKGROUND: The chronic kidney disease (CKD) is a worldwide critical problem, especially in developing countries. CKD patients usually begin their treatment in advanced stages, which requires dialysis and kidney transplantation, and consequently, affects mortality rates. This issue is faced by a mobile health (mHealth) application (app) that aims to assist the early diagnosis and self-monitoring of the disease progression. METHODS: A user-centered design (UCD) approach involving health professionals (nurse and nephrologists) and target users guided the development process of the app between 2012 and 2016...
January 12, 2018: BMC Medical Informatics and Decision Making
https://www.readbyqxmd.com/read/29328367/tumorigenic-proteins-upregulated-in-the-mycn-amplified-imr-32-human-neuroblastoma-cells-promote-proliferation-and-migration
#13
Hayat Zaatiti, Jad Abdallah, Zeina Nasr, George Khazen, Anthony Sandler, Tamara J Abou-Antoun
Childhood neuroblastoma is one of the most common types of extra-cranial cancer affecting children with a clinical spectrum ranging from spontaneous regression to malignant and fatal progression. In order to improve the clinical outcomes of children with high-risk neuroblastoma, it is crucial to understand the tumorigenic mechanisms that govern its malignant behaviors. MYCN proto-oncogene, bHLH transcription factor (MYCN) amplification has been implicated in the malignant, treatment-evasive nature of aggressive, high-risk neuroblastoma...
January 4, 2018: International Journal of Oncology
https://www.readbyqxmd.com/read/29327598/sensitivity-to-change-of-mobility-measures-in-musculoskeletal-conditions-on-lower-extremities-in-outpatient-rehabilitation-settings
#14
Esther Navarro-Pujalte, Mariano Gacto-Sánchez, Joaquina Montilla-Herrador, Pilar Escolar-Reina, María Ángeles Franco-Sierra, Francesc Medina-Mirapeix
STUDY DESIGN: Prospective longitudinal study. OBJECTIVE: To examine the sensitivity of the Mobility Activities Measure for lower extremities and to compare it to the sensitivity of the Physical Functioning Scale (PF-10) and the Patient-Specific Functional Scale (PSFS) at week 4 and week 8 post-hospitalization in outpatient rehabilitation settings. BACKGROUND: Mobility Activities Measure is a set of short mobility measures to track outpatient rehabilitation progress: its scales have shown good properties but its sensitivity to change has not been reported...
January 12, 2018: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29327302/diffuse-idiopathic-skeletal-hyperostosis-is-associated-with-lumbar-spinal-stenosis-requiring-surgery
#15
Kentaro Yamada, Shigenobu Satoh, Hiroshi Hashizume, Noriko Yoshimura, Ryohei Kagotani, Yuyu Ishimoto, Yuichiro Abe, Hiromitsu Toyoda, Hidetomi Terai, Takeshi Masuda, Shigeyuki Muraki, Hiroaki Nakamura, Munehito Yoshida
Factors related to the onset and progression of lumbar spinal stenosis (LSS) have not yet been identified. Diffuse idiopathic skeletal hyperostosis (DISH) increases mechanical loading on the non-fused lumbar levels and may therefore lead to LSS. This cross-sectional study aimed to identify associations between LSS and DISH. This study included 2363 consecutive patients undergoing surgery for LSS and 787 general inhabitants without symptoms of LSS as participants of the population-based cohort study, Research on Osteoarthritis/Osteoporosis Against Disability...
January 11, 2018: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/29325415/recrystallization-of-manganite-%C3%AE-mnooh-and-implications-for-trace-element-cycling
#16
Tobias Hens, Joël Brugger, Susan Cumberland, Barbara Etschmann, Andrew J Frierdich
The recrystallization of Mn(III,IV) oxides is catalyzed by aqueous Mn(II) (Mn(II)aq) during (bio)geochemical Mn redox cycling. It is poorly understood how trace metals associated with Mn oxides (e.g., Ni) are cycled during such recrystallization. Here, we use X-ray absorption spectroscopy (XAS) to examine the speciation of Ni associated with manganite (γ-Mn(III)OOH) suspensions in the presence or absence of Mn(II)aq under variable pH conditions (pH 5.5 and 7.5). In a second set of experiments, we used a 62Ni isotope tracer to quantify the amount of dissolved Ni that exchanges with Ni incorporated in the manganite crystal structure during reactions in 1 mM Mn(II)aq and in Mn(II)-free solutions...
January 11, 2018: Environmental Science & Technology
https://www.readbyqxmd.com/read/29325112/autologous-haematopoietic-stem-cell-transplantation-ahsct-in-severe-crohn-s-disease-a-review-on-behalf-of-ecco-and-ebmt
#17
John A Snowden, Julián Panés, Tobias Alexander, Matthieu Allez, Sandro Ardizzone, Daan Dierickx, Jürgen Finke, Peter Hasselblatt, Chris Hawkey, Majid Kazmi, James O Lindsay, Francesco Onida, Azucena Salas, Riccardo Saccardi, Severine Vermeire, Montserrat Rovira, Elena Ricart
Despite the major recent progress in the treatment of Crohn's disease (CD), there is a subset of patients in whom the disease runs an aggressive course with progressive tissue damage requiring early and repeated surgical management. Increasing evidence supports sustained and profound improvement in gastrointestinal parameters and quality of life following high dose immunosuppressive therapy and autologous haematopoietic stem cell transplantation (AHSCT) compared to standard therapy in this context. In addition, international transplant registry data reflects the use of AHSCT in CD outside of trials in selected patients...
January 8, 2018: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/29322255/-electronic-vision-aids-new-options-for-rehabilitation-of-the-visually-impaired
#18
REVIEW
N Celik, K Rohrschneider
Due to technical advances, there has been an enormous improvement of electronic vision aids in recent years. New developments are especially small portable devices which can be easily carried. The majority of electronic vision aids serve as a reading aid. Electronic magnifiers are a portable alternative to conventional screen readers. In addition, there are mobile reading devices and special computer tools. Color recognition devices and barcode scanners are helpful in everyday life. Ultrasonic orientation systems enable the recognition of obstacles also at head height...
January 10, 2018: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/29316384/hmga1-overexpression-is-associated-with-the-malignant-status-and-progression-of-breast-cancer
#19
Cuiling Qi, Cao Jinghua, Li Mengshi, Chenghua Liang, Yajun He, Yuanyuan Li, Jialin Li, Xiaoming Zheng, Wang Lijing, Bo Wei
Breast cancer is the most common malignant tumor among women, and the incidence and mortality of breast cancer has rapidly increased in recent years. Studies have indicated that high mobility group A1 (HMGA1), an important member of the HMGA family, plays a role in the pathogenesis and progression of malignant tumors, including breast cancer. The present study aims to evaluate the effect of HMGA1 in breast cancer. Interestingly, we found that HMGA1 expression was significantly higher in breast cancer tissues than in adenoma tissues and closely correlated with the clinical stage and histological grade in breast cancer patients...
January 6, 2018: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/29314775/the-relationship-between-digit-independence-and-digital-sesamoids-in-humans-and-a-proposal-of-a-new-digital-sesamoid-evolutionary-hypothesis
#20
Kaissar Yammine
Digital sesamoids are found in the metapodial-phalangeal joints of most mammals and quadrupedal tetrapods, yet their functional significance is still unclear. During primate evolution, a slight decline in their frequency has been associated with brachiation in gibbons, followed by a quasi-complete absence in orangutans then a slight resurgence occurred in gorillas and chimpanzees. Simultaneously, forearm muscles showed a progressive division in hominoid evolution towards a more "individualistic" musculature yielding more mobility and independence to some fingers...
January 3, 2018: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
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