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https://www.readbyqxmd.com/read/29691892/congenital-titinopathy-comprehensive-characterisation-and-pathogenic-insights
#1
Emily C Oates, Kristi J Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E Smith, James S Ware, Kyle S Yau, Lindsay C Swanson, Nicola Whiffin, Anthony J Peduto, Adam Bournazos, Leigh B Waddell, Michelle A Farrar, Hugo A Sampaio, Hooi Ling Teoh, Phillipa J Lamont, David Mowat, Robin B Fitzsimons, Alastair J Corbett, Monique M Ryan, Gina L O'Grady, Sarah A Sandaradura, Roula Ghaoui, Himanshu B Joshi, Jamie L Marshall, Melinda A Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A Genetti, Minttu Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason R Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, Meganne E Leach, A Reghan Foley, Diana Bharucha-Goebel, James Collins, Anne M Connolly, Heather R Gilbreath, Susan T Iannaccone, Diana Castro, Beryl B Cummings, Richard I Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho-Ming Luk, Neil H Thomas, Nicola C Foulds, Marjorie A Illingworth, Sian Ellard, Catriona A McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T Cooper, Erik-Jan Kamsteeg, Eric P Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N North, Nigel F Clarke, Monkol Lek, Alan H Beggs, Carsten G Bönnemann, Daniel G MacArthur, Henk Granzier, Mark R Davis, Nigel G Laing
OBJECTIVE: Comprehensive clinical characterisation of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. METHODS: Using massively parallel sequencing we identified 30 patients from 27 families with two pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathology and imaging features of these patients. RESULTS: All patients had prenatal- or early-onset hypotonia and/or congenital contractures...
April 25, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29691836/early-life-regional-and-temporal-variation-in-filaggrin-derived-natural-moisturising-factor-filaggrin-processing-enzyme-activity-corneocyte-phenotypes-and-plasmin-activity-implications-for-atopic-dermatitis
#2
M A McAleer, I Jakasa, N Raj, C P F O'Donnell, M E Lane, A V Rawlings, R Voegeli, W H I McLean, S Kezic, A D Irvine
BACKGROUND: Filaggrin is central to the pathogenesis of atopic dermatitis (AD). The cheeks are a common initiation site of infantile AD. Regional and temporal expression of levels of filaggrin degradation products (natural moisturising factors, NMF), activities of filaggrin processing enzymes (bleomycin hydrolase; BH and calpain-1; C-1) and plasmin, and corneocyte envelope (CE) maturity in early life are largely unknown. OBJECTIVES: We did a cross-sectional, observational study investigating regional and age dependent variations in NMF levels, activity of proteases and CE maturity in stratum corneum (SC) from infants to determine if these could explain the observed predilection sites for AD in early life...
April 25, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29691802/the-localization-of-%C3%AE-synuclein-in-the-process-of-differentiation-of-human-erythroid-cells
#3
Katsuya Araki, Kotomi Sugawara, Eri H Hayakawa, Kumi Ubukawa, Isuzu Kobayashi, Hideki Wakui, Naoto Takahashi, Kenichi Sawada, Hideki Mochizuki, Wataru Nunomura
Although the neuronal protein α-synuclein (α-syn) is thought to play a central role in the pathogenesis of Parkinson's disease (PD), its physiological function remains unknown. It is known that α-syn is also abundantly expressed in erythrocytes. However, its role in erythrocytes is also unknown. In the present study, we investigated the localization of α-syn in human erythroblasts and erythrocytes. Protein expression of α-syn increased during terminal differentiation of erythroblasts (from day 7 to day 13), whereas its mRNA level peaked at day 11...
April 24, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29691792/effect-of-enzymatic-digestion-of-protein-derivatives-obtained-from-mucuna-pruriens-l-on-production-of-proinflammatory-mediators-by-balb-c-mouse-macrophages
#4
Edwin E Martínez Leo, Victor E Arana Argáez, Juan J Acevedo Fernández, Rosa Moo Puc, Maira R Segura Campos
Inflammation is considered to be a major risk factor for the pathogenesis of chronic non-communicable diseases. Macrophages are important immune cells, which regulate inflammation and host defense by secretion of proinflammatory mediators. Obtaining biopeptides by enzymatic hydrolysis adds value to proteins of vegetative origin, such as Mucuna pruriens L. The present study evaluated the effect of enzymatic digestion of protein derivatives obtained from M. pruriens L. on the production of proinflammatory mediators by BALB/c mouse macrophages...
April 25, 2018: Applied Biochemistry and Biotechnology
https://www.readbyqxmd.com/read/29691708/generation-of-insulin-deficient-piglets-by-disrupting-ins-gene-using-crispr-cas9-system
#5
Bumrae Cho, Su Jin Kim, Eun-Jin Lee, Sun Mi Ahn, Jin Seok Lee, Dal-Young Ji, Kiho Lee, Jung-Taek Kang
Diabetes mellitus is a chronic disease with accompanying severe complications. Various animal models, mostly rodents due to availability of genetically modified lines, have been used to investigate the pathophysiology of diabetes. Using pigs for diabetic research can be beneficial because of their similarity in size, pathogenesis pathway, physiology, and metabolism with human. However, the use of pigs for diabetes research has been hampered due to only few pig models presenting diabetes symptoms. In this study, we have successfully generated insulin-deficient pigs by generating the indels of the porcine INS gene in somatic cells using CRISPR/Cas9 system followed by somatic cell nuclear transfer...
April 24, 2018: Transgenic Research
https://www.readbyqxmd.com/read/29691607/protective-effect-of-nerolidol-loaded-in-nanospheres-against-cerebral-damage-caused-by-trypanosoma-evansi
#6
Matheus D Baldissera, Carine F Souza, Roberta C Riéffel, Maiara C Velho, Andiara P Ramos, Kátia Nascimento, Michele R Sagrillo, Aline F Ourique, Aleksandro S da Silva, Lenita M Stefani, Silvia G Monteiro
Trypanosoma evansi is a zoonotic parasite associated with high animal mortality that has gained importance due to its capacity to infect humans. Recently, some evidences have demonstrated that T. evansi infection causes severe genotoxic and cytotoxic damage in brain cells, contributing to the pathogenesis and clinical signs of the disease. In this sense, the aim of this study was to evaluate whether nerolidol-loaded in nanospheres, a natural compound with trypanocidal and neuroprotective effects, is able to protect the brain tissue from the cytotoxic and genotoxic effects found during T...
April 24, 2018: Naunyn-Schmiedeberg's Archives of Pharmacology
https://www.readbyqxmd.com/read/29691584/high-level-of-mn-in-brain-is-a-risk-for-alzheimer-disease
#7
Qin Yu, Yuan-Zhong Zhou
Alzheimer disease (AD) is a neurodegenerative disease. Manganese (Mn) is an essential trace element in the human body. It can enter the brain through the blood-brain barrier and blood-cerebrospinal fluid barrier. Excessive accumulation of Mn in the brain may disturb the homeostasis of the central nervous system (CNS) microenvironment and cause severe neuronal damage. The most recent data suggest that excessive Mn is associated with impaired learning and memory in animal models, and may lead to irreversible and progressive mild cognitive impairment and AD...
April 25, 2018: Sheng Li Xue Bao: [Acta Physiologica Sinica]
https://www.readbyqxmd.com/read/29691481/metabolic-principles-of-persistence-and-pathogenicity-in-mycobacterium-tuberculosis
#8
REVIEW
Sabine Ehrt, Dirk Schnappinger, Kyu Y Rhee
Metabolism was once relegated to the supply of energy and biosynthetic precursors, but it has now become clear that it is a specific mediator of nearly all physiological processes. In the context of microbial pathogenesis, metabolism has expanded outside its canonical role in bacterial replication. Among human pathogens, this expansion has emerged perhaps nowhere more visibly than for Mycobacterium tuberculosis, the causative agent of tuberculosis. Unlike most pathogens, M. tuberculosis has evolved within humans, which are both host and reservoir...
April 24, 2018: Nature Reviews. Microbiology
https://www.readbyqxmd.com/read/29691439/reversal-of-memory-and-neuropsychiatric-symptoms-and-reduced-tau-pathology-by-selenium-in-3xtg-ad-mice
#9
Ann Van der Jeugd, Arnaldo Parra-Damas, Raquel Baeta-Corral, Carlos M Soto-Faguás, Tariq Ahmed, Frank M LaFerla, Lydia Giménez-Llort, Rudi D'Hooge, Carlos A Saura
Accumulation of amyloid-β plaques and tau contribute to the pathogenesis of Alzheimer's disease (AD), but it is unclear whether targeting tau pathology by antioxidants independently of amyloid-β causes beneficial effects on memory and neuropsychiatric symptoms. Selenium, an essential antioxidant element reduced in the aging brain, prevents development of neuropathology in AD transgenic mice at early disease stages. The therapeutic potential of selenium for ameliorating or reversing neuropsychiatric and cognitive behavioral symptoms at late AD stages is largely unknown...
April 24, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29691416/virus-encoded-mirnas-in-ebola-virus-disease
#10
Janice Duy, Anna N Honko, Louis A Altamura, Sandra L Bixler, Suzanne Wollen-Roberts, Nadia Wauquier, Aileen O'Hearn, Eric M Mucker, Joshua C Johnson, Joshua D Shamblin, Justine Zelko, Miriam A Botto, James Bangura, Moinya Coomber, M Louise Pitt, Jean-Paul Gonzalez, Randal J Schoepp, Arthur J Goff, Timothy D Minogue
Ebola virus (EBOV) is a negative-strand RNA virus that replicates in the cytoplasm and causes an often-fatal hemorrhagic fever. EBOV, like other viruses, can reportedly encode its own microRNAs (miRNAs) to subvert host immune defenses. miRNAs are short noncoding RNAs that can regulate gene expression by hybridizing to multiple mRNAs, and viral miRNAs can enhance viral replication and infectivity by regulating host or viral genes. To date, only one EBOV miRNA has been examined in human infection. Here, we assayed mouse, rhesus macaque, cynomolgus macaque, and human samples infected with three EBOV variants for twelve computationally predicted viral miRNAs using RT-qPCR...
April 24, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29691386/toll-like-receptors-mediated-pathways-activate-inflammatory-responses-in-the-esophageal-mucosa-of-adult-eosinophilic-esophagitis
#11
Ángel Arias, María Vicario, David Bernardo, José M Olalla, Marina Fortea, Ana Montalban-Arques, Pilar Martínez-Fernández, Ana M González-Castro, Teresa Mota-Huertas, Laura Arias-González, Alfredo J Lucendo
OBJECTIVES: Esophageal microbiota and regulation of adaptive immunity are increasingly being investigated in eosinophilic esophagitis (EoE). Toll-like receptors (TLRs) play a central role in the initiation and maintenance of innate immune activity. Our objective was to characterize the esophageal and duodenal innate immune response in EoE and its modulation by dietary therapy. METHODS: Esophageal and duodenal biopsy samples were collected from 10 adults with untreated EoE, before and after effective treatment with a six-food elimination diet (SFED), and 10 controls with normal esophagus...
April 25, 2018: Clinical and Translational Gastroenterology
https://www.readbyqxmd.com/read/29691378/blockade-of-the-c5a-c5ar-axis-alleviates-lung-damage-in-hdpp4-transgenic-mice-infected-with-mers-cov
#12
Yuting Jiang, Guangyu Zhao, Nianping Song, Pei Li, Yuehong Chen, Yan Guo, Junfeng Li, Lanying Du, Shibo Jiang, Renfeng Guo, Shihui Sun, Yusen Zhou
The pathogenesis of highly pathogenic Middle East respiratory syndrome coronavirus (MERS-CoV) remains poorly understood. In a previous study, we established an hDPP4-transgenic (hDPP4-Tg) mouse model in which MERS-CoV infection causes severe acute respiratory failure and high mortality accompanied by an elevated secretion of cytokines and chemokines. Since excessive complement activation is an important factor that contributes to acute lung injury after viral infection, in this study, we investigated the role of complement in MERS-CoV-induced lung damage...
April 24, 2018: Emerging Microbes & Infections
https://www.readbyqxmd.com/read/29691371/helicobacter-pylori-induced-il-33-modulates-mast-cell-responses-benefits-bacterial-growth-and-contributes-to-gastritis
#13
Yi-Pin Lv, Yong-Sheng Teng, Fang-Yuan Mao, Liu-Sheng Peng, Jin-Yu Zhang, Ping Cheng, Yu-Gang Liu, Hui Kong, Ting-Ting Wang, Xiao-Long Wu, Chuan-Jie Hao, Weisan Chen, Shi-Ming Yang, Yong-Liang Zhao, Bin Han, Qiang Ma, Quan-Ming Zou, Yuan Zhuang
Interleukin (IL)-induced inflammatory responses are critical for the pathogenesis of Helicobacter pylori (H. pylori)-induced gastritis. IL-33 represents a recently discovered proinflammatory cytokine involved in inflammatory diseases, but its relevance to H. pylori-induced gastritis is unknown. Here, we found that gastric IL-33 mRNA and protein expression were elevated in gastric mucosa of both patients and mice infected with H. pylori, which is positively correlated with bacterial load and the degree of gastritis...
April 25, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29691362/neurotropism-and-behavioral-changes-associated-with-zika-infection-in-the-vector-aedes-aegypti
#14
Julie Gaburro, Asim Bhatti, Jenni Harper, Isabelle Jeanne, Megan Dearnley, Diane Green, Saeid Nahavandi, Prasad N Paradkar, Jean-Bernard Duchemin
Understanding Zika virus infection dynamics is essential, as its recent emergence revealed possible devastating neuropathologies in humans, thus causing a major threat to public health worldwide. Recent research allowed breakthrough in our understanding of the virus and host pathogenesis; however, little is known on its impact on its main vector, Aedes aegypti. Here we show how Zika virus targets Aedes aegypti's neurons and induces changes in its behavior. Results are compared to dengue virus, another flavivirus, which triggers a different pattern of behavioral changes...
April 25, 2018: Emerging Microbes & Infections
https://www.readbyqxmd.com/read/29691144/papillary-tumor-of-the-pineal-region-case-report-and-review-of-the-literature
#15
M A Cañizares Méndez, Manuel Amosa Delgado, Juan Antonio Álvarez Salgado, Jorge Javier Villaseñor Ledezma, Elena Capilla Cabezuelo, Francisco Díaz Crespo
Papillary tumor of the pineal region is a rare neuroepithelial tumor characterized by papillary architecture and epithelial cytology, immunopositivity for cytokeratin and ependymal differentiation. It is considered grade II-III by the World Health Organization and was first described by Jouvet in 2003. We present a 34-year-old male with headaches, blurred vision and normal examination. Radiological study showed a nodulocystic lesion in the pineal region compatible with pineocytoma. Surgery was performed using an infratentorial supracerebellar approach, finding a cystic tumor in the quadrigeminal cistern which was completely resected...
April 21, 2018: Neurocirugía
https://www.readbyqxmd.com/read/29691143/a-low-glycemic-index-and-glycemic-load-diet-decreases-insulin-like-growth-factor-1-among-adults-with-moderate-and-severe-acne-a-short-duration-2-week-randomized-controlled-trial
#16
Jennifer Burris, James M Shikany, William Rietkerk, Kathleen Woolf
BACKGROUND: A high glycemic index (GI) and glycemic load (GL) diet may stimulate acne proliferative pathways by influencing biochemical factors associated with acne. However, few randomized controlled trials have examined this relationship, and this process is not completely understood. OBJECTIVE: This study examined changes in biochemical factors associated with acne among adults with moderate to severe acne after following a low GI and GL diet or usual eating plan for 2 weeks...
April 21, 2018: Journal of the Academy of Nutrition and Dietetics
https://www.readbyqxmd.com/read/29691058/er-stress-a-therapeutic-target-in-rheumatoid-arthritis
#17
REVIEW
Marveh Rahmati, Mohammad Amin Moosavi, Michael F McDermott
Diverse physiological and pathological conditions that impact on protein folding of the endoplasmic reticulum (ER) cause ER stress. The unfolded protein response (UPR) and the ER-associated degradation (ERAD) pathway are activated to cope with ER stress. In rheumatoid arthritis (RA), inflammation and ER stress work in parallel by driving inflammatory cells to release cytokines that induce chronic ER stress pathways. This chronic ER stress may contribute to the pathogenesis of RA through synoviocyte proliferation and proinflammatory cytokine production...
April 22, 2018: Trends in Pharmacological Sciences
https://www.readbyqxmd.com/read/29690969/molecular-pathogenesis-of-chewable-tobacco
#18
Saeeda Baig, Zile Rubab, Wasfa Farooq
In Pakistan, extensive use of several precarious chewable tobacco formulations has made oral cancer the second leading malignancy. Selection of literature was done by a survey of studies published from 1990 to 2017 mainly, from PUBMED and few from other search engines, on naswar, gutka, areca nut and betel quid, which included published reviews, original articles and other data sources on chewable tobacco, its epidemiology, pathological implications, and psychological effects. These studies have revealed that the chemicals in these formulations bind and mutate DNA of oral mucosa through down regulating cellular repair pathways and upregulating genetic networks associated with pathogenesis...
May 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29690931/modelling-upper-respiratory-tract-diseases-getting-grips-on-host-microbe-interactions-in-chronic-rhinosinusitis-using-in-vitro-technologies
#19
REVIEW
Charlotte De Rudder, Marta Calatayud Arroyo, Sarah Lebeer, Tom Van de Wiele
Chronic rhinosinusitis (CRS) is a chronic inflammation of the mucosa of the nose and paranasal sinuses affecting approximately 11% of the adult population in Europe. Inadequate immune responses, as well as a dysbiosis of the sinonasal microbiota, have been put forward as aetiological factors of the disease. However, despite the prevalence of this disease, there is no consensus on the aetiology and mechanisms of pathogenesis of CRS. Further research requires in vitro models mimicking the healthy and diseased host environment along with the sinonasal microbiota...
April 24, 2018: Microbiome
https://www.readbyqxmd.com/read/29690919/lack-of-human-like-extracellular-sortilin-neuropathology-in-transgenic-alzheimer-s-disease-model-mice-and-macaques
#20
Feng-Qin Zhou, Juan Jiang, Chelsea M Griffith, Peter R Patrylo, Huaibin Cai, Yaping Chu, Xiao-Xin Yan
BACKGROUND: Alzheimer's disease (AD) is a devastating neurodegenerative disorder bearing multiple pathological hallmarks suggestive of complex cellular/molecular interplay during pathogenesis. Transgenic mice and nonhuman primates are used as disease models for mechanistic and translational research into AD; the extent to which these animal models recapitulate AD-type neuropathology is an issue of importance. Putative C-terminal fragments from sortilin, a member of the vacuolar protein sorting 10 protein (Vps10p) family, have recently been shown to deposit in the neuritic β-amyloid (Aβ) plaques in the human brain...
April 24, 2018: Alzheimer's Research & Therapy
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