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https://www.readbyqxmd.com/read/28650581/deficiency-of-wars2-encoding-mitochondrial-tryptophanyl-trna-synthetase-causes-severe-infantile-onset-leukoencephalopathy
#1
Benjamin E Theisen, Anastasia Rumyantseva, Julie S Cohen, Wendy A Alcaraz, Deepali N Shinde, Sha Tang, Siddarth Srivastava, Jonathan Pevsner, Aleksandra Trifunovic, Ali Fatemi
Pathogenic variants in the mitochondrial aminoacyl tRNA synthetases lead to deficiencies in mitochondrial protein synthesis and are associated with a broad range of clinical presentations usually with early onset and inherited in an autosomal recessive manner. Of the 19 mitochondrial aminoacyl tRNA synthetases, WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, was as of late the only one that had not been associated with disease in humans. A case of a family with pathogenic variants in WARS2 that caused mainly intellectual disability, speech impairment, aggressiveness, and athetosis was recently reported...
June 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28650411/recording-fewer-than-20-potential-pairs-with-sfemg-may-suffice-for-the-diagnosis-of-myasthenia-gravis
#2
Alon Abraham, Ari Breiner, Carolina Barnett, Hans D Katzberg, Vera Bril
PURPOSE: Our aim in the current study was to determine the minimum number of SFEMG potential pairs required to confirm neuromuscular junction impairment and relate this number to disease severity. METHODS: Ninety-four patients with myasthenia gravis (MG) attending the neuromuscular clinic from February 2013 to November 2015 were included. The SFEMG sensitivity was determined for each number of recorded pairs up to 20. In addition, we compared clinical and electrophysiologic characteristics between patients with abnormality within the first 3, 4 to 7, and ≥8 recorded pairs to determine whether this number is associated with disease severity...
June 20, 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28647421/evaluation-of-respiratory-muscle-strength-in-the-acute-phase-of-stroke-the-role-of-aging-and-anthropometric-variables
#3
Gustavo José Luvizutto, Maria Regina Lopes Dos Santos, Lorena Cristina Alvarez Sartor, Josiela Cristina da Silva Rodrigues, Rafael Dalle Molle da Costa, Gabriel Pereira Braga, Letícia Cláudia de Oliveira Antunes, Juli Thomaz Souza, Hélio Rubens de Carvalho Nunes, Silméia Garcia Zanati Bazan, Rodrigo Bazan
BACKGROUND: During hospitalization, stroke patients are bedridden due to neurologic impairment, leading to loss of muscle mass, weakness, and functional limitation. There have been few studies examining respiratory muscle strength (RMS) in the acute phase of stroke. OBJECTIVE: This study aimed to evaluate the RMS of patients with acute stroke compared with predicted values and to relate this to anthropometric variables, risk factors, and neurologic severity. METHODS: This is a cross-sectional study in the acute phase of stroke...
June 21, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28646236/rapamycin-adjuvant-and-exacerbation-of-severe-influenza-in-an-experimental-mouse-model
#4
Ching-Tai Huang, Chen-Yiu Hung, Tse-Ching Chen, Chun-Yen Lin, Yung-Chang Lin, Chia-Shiang Chang, Yueh-Chia He, Yu-Lin Huang, Avijit Dutta
Influenza virus infection often causes severe disease and acute respiratory distress syndrome. It is a common belief that overwhelming immune response contributes to the severe illness. Physicians and researchers have put forth immune modulation as salvage therapy for better recovery. However, empiric corticosteroid failed in both humans and animal models. Reported success with Rapamycin in humans prompted a comprehensive animal study and mechanistic dissection. Here we report the effect of Rapamycin alone or in combination with Oseltamivir for severe influenza in BALB/c mice...
June 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28646038/aging-impairs-alveolar-macrophage-phagocytosis-and-increases-influenza-induced-mortality-in-mice
#5
Christine K Wong, Candice A Smith, Koji Sakamoto, Naftali Kaminski, Jonathan L Koff, Daniel R Goldstein
Influenza viral infections often lead to increased mortality in older people. However, the mechanisms by which aging impacts immunity to influenza lung infection remain unclear. We employed a murine model of influenza infection to identify these mechanisms. With aging, we found reduced numbers of alveolar macrophages, cells essential for lung homeostasis. We also determined that these macrophages are critical for influenza-induced mortality with aging. Furthermore, aging vastly alters the transcriptional profile and specifically downregulates cell cycling pathways in alveolar macrophages...
June 23, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28645332/effects-of-air-pollution-and-seasons-on-health-related-quality-of-life-of-mongolian-adults-living-in-ulaanbaatar-cross-sectional-studies
#6
Motoyuki Nakao, Keiko Yamauchi, Yoko Ishihara, Hisamitsu Omori, Dashtseren Ichinnorov, Bandi Solongo
BACKGROUND: Ulaanbaatar, Mongolia, is known as severely air-polluted city in the world due to increased coal consumption in the cold season. The health effects of air pollution in Mongolia such as mortality, morbidity and symptoms have been previously reported. However, the concept of health-related quality of life (HR-QoL), which refers to the individual's perception of well-being, should also be included as an adverse health outcome of air pollution. METHODS: Surveys on the Mongolian people living in Ulaanbaatar were performed in the warm and cold seasons...
June 23, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28642106/ecmo-for-adult-respiratory-failure-2017-update
#7
REVIEW
Darryl Abrams, Daniel Brodie
The use of extracorporeal membrane oxygenation (ECMO) for respiratory failure in adults is growing rapidly, driven in large part by advances in technology, which have made ECMO devices easier to implement, safer and more efficient. Accompanying this increase in utilization is a nearly exponential increase in ECMO-related literature. However, the great majority of the literature is comprised of retrospective observational data, often in the form of single-center studies with relatively small numbers of subjects...
June 19, 2017: Chest
https://www.readbyqxmd.com/read/28638712/frontal-assessment-battery-and-frontal-atrophy-in-amyotrophic-lateral-sclerosis
#8
Tatsuhiro Terada, Jun Miyata, Tomokazu Obi, Manabu Kubota, Miho Yoshizumi, Kinya Yamazaki, Kouichi Mizoguchi, Toshiya Murai
OBJECTIVES: To determine the potential utility of the frontal assessment battery (FAB) in assessing cognitive impairments in amyotrophic lateral sclerosis (ALS), we investigated the association between the FAB score and regional gray matter volume, and ascertained whether the regional brain alterations related to cognitive impairments occur in relatively mild stage of ALS. MATERIALS AND METHODS: Twenty-four ALS patients with a Mini-Mental State Examination score of >23, a normal score on the Self-Rating Depression Scale, little or no disturbance in speech and handling utensils on the ALS Functional Rating Scale (ALSFRS), and normal measures on respiratory tests (respiratory function test and arterial blood gas analysis), and two age-matched normal control groups (one for FAB assessment and the other for brain morphometry) underwent FAB testing and structural magnetic resonance imaging...
June 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28638663/acute-abdominal-compartment-syndrome-following-extraperitoneal-bladder-perforation
#9
Ana Licina
Extraperitoneal bladder perforation is a known complication of a commonly performed rigid cystoscopy. If unrecognized, this complication can lead to continuous intra-abdominal fluid leakage with consequent organ function impairment and symptoms. This is the first case report in literature of a transurethral bladder perforation causing an acute abdominal compartment syndrome, which was subsequently managed conservatively with supportive management only. Case Presentation. We describe a clinical course of a 73-year-old Caucasian female whose initial acute presentation involved urinary symptoms...
2017: Case Reports in Anesthesiology
https://www.readbyqxmd.com/read/28636794/differences-and-similarities-between-bronchopulmonary-dysplasia-and-asthma-in-schoolchildren
#10
Björn Nordlund, Anna James, Christina Ebersjö, Gunilla Hedlin, Eva B Broström
BACKGROUND: The long-term respiratory characteristics of ex-preterm children with bronchopulmonary dysplasia (BPD) are not established. The objective of this study was to describe hallmarks of BPD at school age in comparison to children with atopic asthma. METHODS: This study was a cross-sectional descriptive comparative study in a hospital-based setting. Thirty schoolchildren diagnosed with BPD (10.4 years/born at 26.6 weeks' gestation) and 30 age- and sex-matched children with asthma and sensitized to airborne allergens (IgE >0...
June 21, 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28635907/-the-problem-of-obstructive-sleep-apnea-syndrome-in-asthmatic-patients
#11
E G Sheludko, D E Naumov, Yu M Perelman, V P Kolosov
Asthma and obstructive sleep apnea syndrome (OSAS) are one of the most common chronic respiratory diseases. These have common risk factors that include obesity, gastroesophageal reflux disease (GERD) and impaired nasal breathing (allergic rhinitis, sinusitis). At the same time, experimental evidence demonstrates common pathophysiological mechanisms of these diseases, such as involvement in the process of the respiratory tract, a systemic inflammatory response, and implementation of neuromechanical reflexes...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28634220/tidal-changes-on-ct-and-progression-of-ards
#12
Maurizio Cereda, Yi Xin, Hooman Hamedani, Giacomo Bellani, Stephen Kadlecek, Justin Clapp, Luca Guerra, Natalie Meeder, Jennia Rajaei, Nicholas J Tustison, James C Gee, Brian P Kavanagh, Rahim R Rizi
BACKGROUND: Uncertain prediction of outcome in acute respiratory distress syndrome (ARDS) impedes individual patient management and clinical trial design. OBJECTIVES: To develop a radiological metric of injurious inflation derived from matched inspiratory and expiratory CT scans, calibrate it in a model of experimental lung injury, and test it in patients with ARDS. METHODS: 73 anaesthetised rats (acid aspiration model) were ventilated (protective or non-protective) for up to 4 hours to generate a spectrum of lung injury...
June 20, 2017: Thorax
https://www.readbyqxmd.com/read/28633384/correlates-of-dyspnoea-and-its-association-with-adverse-outcomes-in-a-cohort-of-adults-aged-80-and-over
#13
Eralda Hegendörfer, Bert Vaes, Catharina Matheï, Gijs Van Pottelbergh, Jean-Marie Degryse
Background: adults aged 80 and over, a fast growing age-group, with increased co-morbidity and frailty have not been the focus of previous research on dyspnoea. We investigate the correlates of dyspnoea and its association with adverse outcomes in a cohort of adults aged 80 and over. Methods: about 565 community-dwelling adults aged 80 and over of the BELFRAIL prospective cohort had assessment of Medical Research Council dyspnoea scale (MRC), forced expiratory volume in 1 s (FEV1), N-terminal pro-brain natriuretic peptide (NT-proBNP), physical performance tests, grip strength, 15 items geriatric depression scale, activities of daily living (ADL), body mass index (BMI) and demographics data...
June 14, 2017: Age and Ageing
https://www.readbyqxmd.com/read/28631296/hydrogen-sulphide-as-a-signaling-molecule-regulating-physiopathological-processes-in-gastrointestinal-motility
#14
REVIEW
M Jimenez, V Gil, M Martinez-Cutillas, N Mañé, D Gallego
The biology of H2 S is an emerging area of research since several biological functions have been recently attributed to this gaseous molecule in a vast number of regions including the cardiovascular, urogenital, respiratory, digestive and central nervous system. H2 S exerts anti-inflammatory effects and can be considered an endogenous mediator with potential effects on gastrointestinal motility. During the last years, our research group has investigated the role of H2 S as a regulator of gastrointestinal motility using both animal and human tissues...
June 20, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28630166/deficiency-of-phb-complex-impairs-respiratory-supercomplex-formation-and-activates-mitochondrial-flashes
#15
Chongshu Jian, Fengli Xu, Tingting Hou, Tao Sun, Li Jinghang, Heping Cheng, Xianhua Wang
Prohibitins (prohibitin 1, PHB1, and prohibitin 2, PHB2) are evolutionally conserved and ubiquitously expressed mitochondrial protein. PHBs form multimeric ring complexes acting as scaffolds in the inner mitochondrial membrane. Mitochondrial flashes (mitoflashes) are newly discovered mitochondrial signaling events which reflect electrical and chemical excitations of the organelle. Here we investigate possible roles of PHBs in the regulation of mitoflash signaling. Down-regulation of PHBs increases mitoflash frequency by up to 5...
June 19, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28629917/personalized-management-approach-for-obstructive-sleep-apnea
#16
REVIEW
Jayne C Carberry, Jason Amatoury, Danny J Eckert
Obstructive sleep apnea (OSA) is a heterogeneous disorder. If left untreated, OSA has major health, safety and economic consequences. In addition to varying levels of impairment in pharyngeal anatomy (narrow/collapsible airway), non-anatomical 'phenotypic traits' are also important contributors to OSA for most patients. However, the majority of existing therapies only target the anatomical cause (e.g. continuous positive airway pressure [CPAP], oral appliances, weight loss, positional therapy, and upper airway surgery)...
June 16, 2017: Chest
https://www.readbyqxmd.com/read/28626858/antibiotics-for-acute-bronchitis
#17
REVIEW
Susan M Smith, Tom Fahey, John Smucny, Lorne A Becker
BACKGROUND: The benefits and risks of antibiotics for acute bronchitis remain unclear despite it being one of the most common illnesses seen in primary care. OBJECTIVES: To assess the effects of antibiotics in improving outcomes and to assess adverse effects of antibiotic therapy for people with a clinical diagnosis of acute bronchitis. SEARCH METHODS: We searched CENTRAL 2016, Issue 11 (accessed 13 January 2017), MEDLINE (1966 to January week 1, 2017), Embase (1974 to 13 January 2017), and LILACS (1982 to 13 January 2017)...
June 19, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28625882/analysis-of-sarcoidosis-in-the-oporto-region-portugal
#18
A V Cardoso, P C Mota, N Melo, S Guimarães, C Souto Moura, J M Jesus, R Cunha, A Morais
BACKGROUND: Sarcoidosis is a systemic granulomatous disease of unknown etiology. Epidemiological studies of different populations are essential because clinical presentation, organ involvement, disease severity, and prognosis vary significantly according to region and population. The aim of this study was to assess epidemiological and clinical characteristics, staging factors, and clinical course in patients with sarcoidosis from a tertiary hospital in Oporto, Portugal. METHODS: A retrospective analysis of patients with sarcoidosis and at least 2 years of follow-up evaluated at the Centro Hospitalar de São João between 2000 and 2014...
June 15, 2017: Revista Portuguesa de Pneumologia
https://www.readbyqxmd.com/read/28624659/surface-engineering-of-solid-lipid-nanoparticle-assemblies-by-methyl-%C3%AE-d-mannopyranoside-for-the-active-targeting-to-macrophages-in-anti-tuberculosis-inhalation-therapy
#19
Eleonora Maretti, Luca Costantino, Cecilia Rustichelli, Eliana Leo, Maria Antonietta Croce, Francesca Buttini, Eleonora Truzzi, Valentina Iannuccelli
This study describes the development of new mannosylated Solid Lipid Nanoparticle assemblies (SLNas) delivering rifampicin for an inhaled treatment of tuberculosis. SLNas were surface engineered with mannose residues to recognize mannose receptors located on infected alveolar macrophages and facilitate cell internalization. Two sets of SLNas were produced by the melt emulsifying technique using biocompatible lipid components, i.e. cholesteryl myristate combined with palmitic acid (PA set) or tripalmitin (TP set), in the presence of the targeting moiety, methyl α-d-mannopyranoside...
June 15, 2017: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/28624095/fontan-circulation-over-time
#20
Djoeke Wolff, Joost P van Melle, Beatrijs Bartelds, Floris-Jan S Ridderbos, Graziella Eshuis, Elisabeth B H J van Stratum, Salvador J Recinos, Brigitte W M Willemse, Hans Hillege, Tineke P Willems, Tjark Ebels, Rolf M F Berger
The unique, unphysiological Fontan circulation is associated with an impaired functional status of the patients that is suggested to deteriorate over time. Unfortunately, previous studies did not integrate both pulmonary and cardiac determinants of functional status. In addition, a comparison with the natural decrease in exercise capacity in healthy subjects (in both children and adults) is lacking. This single-center study aims to investigate the functional status in a cohort of Fontan patients in relation to time since Fontan completion and to identify its determinants, including cardiac characteristics and pulmonary characteristics...
May 11, 2017: American Journal of Cardiology
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