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https://www.readbyqxmd.com/read/29149851/identification-of-gaa-variants-through-whole-exome-sequencing-targeted-to-a-cohort-of-606-patients-with-unexplained-limb-girdle-muscle-weakness
#1
Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G MacArthur, Volker Straub
BACKGROUND: Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosidase can often be detected using an inexpensive and readily accessible dried blood spot test when Pompe disease is suspected. Like several neuromuscular disorders, Pompe disease typically presents with progressive weakness of limb-girdle muscles and respiratory insufficiency...
November 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29147538/scaling-behaviour-and-rate-determining-steps-in-filamentous-self-assembly
#2
Georg Meisl, Luke Rajah, Samuel A I Cohen, Manuela Pfammatter, Anđela Šarić, Erik Hellstrand, Alexander K Buell, Adriano Aguzzi, Sara Linse, Michele Vendruscolo, Christopher M Dobson, Tuomas P J Knowles
The formation of filaments from naturally occurring protein molecules is a process at the core of a range of functional and aberrant biological phenomena, such as the assembly of the cytoskeleton or the appearance of aggregates in Alzheimer's disease. The macroscopic behaviour associated with such processes is remarkably diverse, ranging from simple nucleated growth to highly cooperative processes with a well-defined lagtime. Thus, conventionally, different molecular mechanisms have been used to explain the self-assembly of different proteins...
October 1, 2017: Chemical Science
https://www.readbyqxmd.com/read/29144580/higher-retransplantation-rate-following-extended-right-split-liver-transplantation-an-analysis-from-the-eurotransplant-liver-follow-up-registry
#3
J Andrassy, S Wolf, M Lauseker, M Angele, M D van Rosmalen, U Samuel, X Rogiers, J Werner, M Guba
Split liver transplantation (SLT) has been perceived as an important strategy to increase the supply of liver grafts by creating 2 transplants from 1 allograft. The Eurotransplant allocation system (ELAS) envisages that the ERLs after splitting (usually in the pediatric center) are almost exclusively shipped to a second center. Whether the ELAS policy impacts the graft and patient survival of ERLT in comparison to WLT recipients remains unclear. Data on all LTs performed between 2007 and 2013 were retrieved from the ET Liver follow-up Registry (n=5351)...
November 16, 2017: Liver Transplantation
https://www.readbyqxmd.com/read/29133294/proinflammatory-t-cell-status-associated-with-early-life-adversity
#4
Martha M C Elwenspoek, Xenia Hengesch, Fleur A D Leenen, Anna Schritz, Krystel Sias, Violetta K Schaan, Sophie B Mériaux, Stephanie Schmitz, Fanny Bonnemberger, Hartmut Schächinger, Claus Vögele, Jonathan D Turner, Claude P Muller
Early life adversity (ELA) has been associated with an increased risk for diseases in which the immune system plays a critical role. The ELA immune phenotype is characterized by inflammation, impaired cellular immunity, and immunosenescence. However, data on cell-specific immune effects are largely absent. Additionally, stress systems and health behaviors are altered in ELA, which may contribute to the generation of the ELA immune phenotype. The present investigation tested cell-specific immune differences in relationship to the ELA immune phenotype, altered stress parameters, and health behaviors in individuals with ELA (n = 42) and those without a history of ELA (control, n = 73)...
November 13, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29119945/mechanical-force-induces-mitochondrial-fission
#5
Sebastian Carsten Johannes Helle, Qian Feng, Mathias J Aebersold, Luca Hirt, Raphael R Grüter, Afshin Vahid, Andrea Sirianni, Serge Mostowy, Jess G Snedeker, Anđela Šarić, Timon Idema, Tomaso Zambelli, Benoît Kornmann
Eukaryotic cells are densely packed with macromolecular complexes and intertwining organelles, continually transported and reshaped. Intriguingly, organelles avoid clashing and entangling with each other in such limited space. Mitochondria form extensive networks constantly remodeled by fission and fusion. Here, we show that mitochondrial fission is triggered by mechanical forces. Mechano-stimulation of mitochondria - via encounter with motile intracellular pathogens, via external pressure applied by an atomic force microscope, or via cell migration across uneven microsurfaces - results in the recruitment of the mitochondrial fission machinery, and subsequent division...
November 9, 2017: ELife
https://www.readbyqxmd.com/read/29107202/defining-the-phenotype-of-young-adults-with-family-histories-of-alcohol-and-other-substance-use-disorders-studies-from-the-family-health-patterns-project
#6
Ashley Acheson, Andrea S Vincent, Andrew J Cohoon, William R Lovallo
Individuals with a family history of alcohol and other drug use disorders (FH+) are at increased risk for developing substance use disorders themselves relative to those with no such histories (FH-). Here we sought to identify key characteristics associated with FH+ status and alcohol and other drug use disorder status in a large cohort of FH+ and FH- young adults. We conducted principal component analyses on demographic, temperament, and cognitive measures differentiating 506 FH+ and 528 FH- young adults. Three principal components were identified, and these component scores were then used to predict the odds of being FH+ and the odds of having an alcohol or other drug use disorder...
October 20, 2017: Addictive Behaviors
https://www.readbyqxmd.com/read/29100513/ghrelin-therapy-improves-lung-and-cardiovascular-function-in-experimental-emphysema
#7
Nazareth de Novaes Rocha, Milena Vasconcellos de Oliveira, Cássia Lisboa Braga, Gabriela Guimarães, Lígia de Albuquerque Maia, Gisele de Araújo Padilha, Johnatas Dutra Silva, Christina Maeda Takiya, Vera Luiza Capelozzi, Pedro Leme Silva, Patricia Rieken Macedo Rocco
BACKGROUND: Emphysema is a progressive disease characterized by irreversible airspace enlargement followed by a decline in lung function. It also causes extrapulmonary effects, such as loss of body mass and cor pulmonale, which are associated with shorter survival and worse clinical outcomes. Ghrelin, a growth-hormone secretagogue, stimulates muscle anabolism, has anti-inflammatory effects, promotes vasodilation, and improves cardiac performance. Therefore, we hypothesized that ghrelin might reduce lung inflammation and remodelling as well as improve lung mechanics and cardiac function in experimental emphysema...
November 3, 2017: Respiratory Research
https://www.readbyqxmd.com/read/29096413/the-physical-activity-environment-and-academic-achievement-in-massachusetts-schoolchildren
#8
Sarah A Amin, Catherine M Wright, Rebecca Boulos, Virginia R Chomitz, Kenneth Chui, Christina D Economos, Jennifer M Sacheck
BACKGROUND: A supportive school-based physical activity environment (PAE) is integral to children's physical activity behaviors, but less understood is its association with academic achievement. We aimed to assess the association between PAE and academic performance and whether a stronger relationship exists in lower-income schools (LIS) compared to middle-income schools (MIS). METHODS: Schoolchildren (grades 3rd to 5th) were recruited from 17 Massachusetts public schools...
December 2017: Journal of School Health
https://www.readbyqxmd.com/read/29095115/the-contribution-of-mastery-to-mental-health-and-purpose-in-life-among-female-veterans-with-disabilities-in-israel
#9
Ela Koren, Alana Siegel, Avital Shlezinger, Maayan Sher-Dotan, Rachel Dekel
Self-report questionnaires assessing mental health, purpose in life (PIL) and mastery were administered to 61 female veterans with disabilities (FVWD) and compared 72 demographically matched women in control group without disabilities to learn about use of personal resources in promoting well-being and resilience. Age range was 20-82; average age was 48.87. Data were collected in Israel.  FVWD reported significantly lower levels of mental health, PIL, and mastery than the comparison group. Group affiliation moderated association between mastery and mental health, and between mastery and purpose in life...
November 2, 2017: Health Care for Women International
https://www.readbyqxmd.com/read/29094812/validation-and-cross-cultural-adaptation-of-the-compass-31-in-croatian-and-serbian-patients-with-multiple-sclerosis
#10
Jelena Drulović, Anđela Gavrilović, Luka Crnošija, Darija Kisić-Tepavčević, Magdalena Krbot Skorić, Jovana Ivanović, Ivan Adamec, Irena Dujmović, Anamari Junaković, Gorica Marić, Vanja Martinović, Tatjana Pekmezović, Mario Habek
AIM: To validate and cross-culturally adapt Croatian and Serbian versions of composite autonomic symptom score-31 (COMPASS-31) for the detection of dysautonomia in patients with multiple sclerosis (MS). METHODS: A total of 179 patients, 67 with clinically isolated syndrome (CIS) and 112 with MS, completed the COMPASS-31 at two MS centers in Zagreb and Belgrade between April 1 and October 31, 2016. Demographic and clinical data including age, gender, MS phenotypes, and the Expanded Disability Status Scale (EDSS) score were collected...
October 31, 2017: Croatian Medical Journal
https://www.readbyqxmd.com/read/29089944/t-cell-immunosenescence-after-early-life-adversity-association-with-cytomegalovirus-infection
#11
Martha M C Elwenspoek, Krystel Sias, Xenia Hengesch, Violetta K Schaan, Fleur A D Leenen, Philipp Adams, Sophie B Mériaux, Stephanie Schmitz, Fanny Bonnemberger, Anouk Ewen, Hartmut Schächinger, Claus Vögele, Claude P Muller, Jonathan D Turner
Early life adversity (ELA) increases the risk for multiple age-related diseases, such as diabetes type 2 and cardiovascular disease. As prevalence is high, ELA poses a major and global public health problem. Immunosenescence, or aging of the immune system, has been proposed to underlie the association between ELA and long-term health consequences. However, it is unclear what drives ELA-associated immunosenescence and which cells are primarily affected. We investigated different biomarkers of immunosenescence in a healthy subset of the EpiPath cohort...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29084136/association-between-the-prevalence-of-indigestible-foreign-objects-in-the-gastrointestinal-tract-of-slaughtered-cattle-and-body-condition-score
#12
Vikhaya Vincent Nongcula, Leocadia Zhou, Kenneth Nhundu, Ishmael Festus Jaja
It is estimated that South Africa's population will be above 65 million in 2050. Thus, food production needs to triple to alleviate poverty and food insecurity. However, infectious and non-infectious diseases affect livestock productivity, thereby hampering food supply. Non-infectious disease/conditions caused by the consumption of solid waste material are rarely reported. Hence, this study investigates the occurrence and type of indigestible foreign objects (IFOs) in the stomach of slaughtered cattle in two high-throughput abattoirs (n = 4424) in the Eastern Cape Province of South Africa...
October 30, 2017: Animals: An Open Access Journal From MDPI
https://www.readbyqxmd.com/read/29079204/hormones-and-fish-monosex-farming-a-spotlight-on-immunity
#13
REVIEW
Haitham G Abo-Al-Ela
Aquaculture is a promising and developing industry worldwide. One of the first step in monosex culturing, particularly in Nile tilapia, is the production of all-male fry; hormones are widely used in this respect. It is known that exogenous treatment with hormones disrupts various systems in the body including the immune and endocrine systems. There has been a growing interest in how hormones shape the biology of the fish. Many researchers all over the world explored how androgen can interact with many of the body systems; however, rarely any of them tried to improve the hormonal method or to find an alternative...
October 25, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/29071705/vigilance-for-threat-accounts-for-inter-individual-variation-in-physiological-responses-to-adversity-in-rhesus-macaques-a-cognition%C3%A2-%C3%A3-%C3%A2-environment-approach
#14
Tara M Mandalaywala, Lauren A Petrullo, Karen J Parker, Dario Maestripieri, James P Higham
Early life adversity (ELA) can lead to poor health later in life. However, there is significant variation in outcomes, with some individuals displaying resilience even in the face of adversity. Using longitudinal data collected from free-ranging rhesus macaques between birth and 3 years, we examined whether individual variation in vigilance for threat, an early emerging attentional bias, can account for variation in long-term outcomes between individuals reared in similar environments. We found that ELA and vigilance during infancy interact to predict physiological dysregulation in Sympathetic Nervous System (SNS) and Hypothalamic-Pituitary-Adrenal (HPA) stress responses during juvenility...
December 2017: Developmental Psychobiology
https://www.readbyqxmd.com/read/29069709/ptosis-surgery-in-patients-with-myasthenia-gravis-a-useful-adjunct-to-medical-therapy
#15
Kerr Brogan, Maria E Farrugia, Kevin Crofts
INTRODUCTION: Medical management can have limitations in improving ptosis in patients with myasthenia gravis (MG). We present our experience of ptosis surgery in MG. MATERIALS AND METHODS: Clinical records of all patients with MG undergoing ptosis surgery from September 2007 to November 2013 in a single center were retrospectively reviewed. Change in upper marginal reflex distance (uMRD) was the main outcome measure. RESULTS: Sixteen external levator advancement (ELA) procedures were performed on 11 MG patients...
February 22, 2017: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/29067749/combined-brain-and-peripheral-nerve-stimulation-in-chronic-stroke-patients-with-moderate-to-severe-motor-impairment
#16
Isabella S Menezes, Leonardo G Cohen, Eduardo A Mello, André G Machado, Paul Hunter Peckham, Sarah M Anjos, Inara L Siqueira, Juliana Conti, Ela B Plow, Adriana B Conforto
OBJECTIVES: To evaluate effects of somatosensory stimulation in the form of repetitive peripheral nerve sensory stimulation (RPSS) in combination with transcranial direct current stimulation (tDCS), tDCS alone, RPSS alone, or sham RPSS + tDCS as add-on interventions to training of wrist extension with functional electrical stimulation (FES), in chronic stroke patients with moderate to severe upper limb impairments in a crossover design. We hypothesized that the combination of RPSS and tDCS would enhance the effects of FES on active range of movement (ROM) of the paretic wrist to a greater extent than RPSS alone, tDCS alone or sham RPSS + tDCS...
October 25, 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/29062440/the-feasibility-and-safety-of-thoracoscopic-surgery-under-epidural-and-or-local-anesthesia-for-spontaneous-pneumothorax-a-meta-analysis
#17
Wei Chen, Chenlei Zhang, Gebang Wang, Zhengjun Li, Hailong Wang, Hongxu Liu
The aim of this study was to compare thoracoscopic surgery for spontaneous pneumothorax under epidural and/or local anesthesia (ELA) with that under general anesthesia and prove the feasibility and safety of thoracoscopic surgery under ELA for spontaneous pneumothorax. Relevant studies were searched in five databases from their date of publication to June 2016. We collected and analyzed the data concerning operative time, hospital stay, complications, air leak, recurrence and perioperative mortality. A forest plot was performed to compare the differences between the two groups...
September 2017: Wideochirurgia i Inne Techniki Mało Inwazyjne, Videosurgery and Other Miniinvasive Techniques
https://www.readbyqxmd.com/read/29062281/maternal-heart-rate-variability-during-the-first-stage-of-labor
#18
Shaza M Musa, Ishag Adam, Nada G Hassan, Duria A Rayis, Mohamed F Lutfi
Labor necessitates continuous adjustments of cardiac autonomic reflexes by alternate activation of the sympathetic and parasympathetic nervous systems. The division of the autonomic nervous system (ANS) that predominates during the first stage of labor is unclear and needs to be further investigated. The study aimed to compare heart rate variability (HRV) in pregnant women in the third trimester with those during the first stage of labor. We conducted a case-control study at Saad Abul Ela Maternity Hospital, Khartoum, Sudan...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29044029/determining-residual-adipose-tissue-characteristics-with-mri-in-patients-with-various-subtypes-of-lipodystrophy
#19
Canan Altay, Mustafa Seçil, Tevfik Demir, Tahir Atik, Gülçin Akıncı, Nilüfer Özdemir Kutbay, Ela Keskin Temeloğlu, Ilgın Yıldırım Şimşir, Seçil Özışık, Leyla Demir, Erdal Eren, Emine Burçin Tuna, Hasibe Aytaç, Hüseyin Onay, Barış Akıncı
PURPOSE: We aimed to investigate residual adipose tissue with whole-body magnetic resonance imaging to differentiate between subtypes of lipodystrophy. METHODS: A total of 32 patients (12 with congenital generalized lipodystrophy [CGL], 1 with acquired generalized lipodystrophy [AGL], 12 with familial partial lipodystrophy [FPLD], and 7 with acquired partial lipodystrophy [APL]) were included. RESULTS: Despite generalized loss of metabolically active adipose tissue, patients with CGL1 caused by AGPAT2 mutations had a significant amount of residual adipose tissue in the scalp, earlobes, retro-orbital region, and palms and soles...
November 2017: Diagnostic and Interventional Radiology: Official Journal of the Turkish Society of Radiology
https://www.readbyqxmd.com/read/29034864/evaluation-of-two-commercial-real-time-pcr-assays-for-detection-of-carbapenemase-genes-in-enterobacteriaceae
#20
Liat Ashkenazi Hoffnung, Ela Burdelova, Amos Adler
The implementation of PCR for the detection of carbapenemase genes enables rapid results with significant epidemiological implications. Two commercial real-time PCR assays, the Hylabs Hy-CRE and Sacace MDR MBL+KPC/OXA, were evaluated for the detection of the genes blaKPC, blaVIM, blaNDM, blaIMP and blaOXA-48-carbapenemasein a collection of 96 carbapenem-resistant Enterobacteriaceae strains with different resistant mechanisms. Both assays exhibited excellent diagnostic performance, with 100 % sensitivity and specificity...
October 16, 2017: Journal of Medical Microbiology
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