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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/29149776/effect-of-nebulized-3-hypertonic-saline-with-salbutamol-on-management-of-acute-asthma-in-outpatient-adults-a-double-blind-randomized-clinical-trial-in-emergency-department
#2
Arash Forouzan, Kambiz Masoumi, Ali Delirrooyfard, Ali Asgari Darian, Laaya Mokhtar Gandomani
Asthma is one of the most common disorders of respiratory tract, management of which still remains as a serious health problem. This study aimed to compare the efficacy of 3% hypertonic saline (HS) plus salbutamol with solely salbutamol on management of acute adults' asthma based on peak flow meter findings. In this double-blind randomized clinical trial, 340 adult patients with acute asthma attacks admitted to emergency department of Ahvaz Golestan and Emam hospitals were enrolled during 2014-2015. The patients were allocated randomly to intervention group (nebulized 2...
October 2017: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/29149182/comparison-between-public-and-private-sectors-of-care-and-disparities-in-adverse-neonatal-outcomes-following-emergency-intrapartum-cesarean-at-term-a-retrospective-cohort-study
#3
Woonji Jang, Christopher Flatley, Ristan M Greer, Sailesh Kumar
BACKGROUND: Perinatal outcomes may be influenced by a variety of factors including maternal demographics and medical condition as well as socio-economic status. The evidence for disparities in health outcomes stratified by type of care (public or private) is lacking. The aim of this study was to investigate short term neonatal outcomes following category 1 and 2 emergency cesareans at term between publicly and privately funded women at a single major tertiary centre in Australia. Category 1-immediate threat to life (maternal or fetal); Category 2-maternal or fetal compromise that is not immediately life-threatening...
2017: PloS One
https://www.readbyqxmd.com/read/29148977/the-role-of-micrornas-in-chronic-respiratory-disease-recent-insights
#4
Lindsay R Stolzenburg, Ann Harris
Chronic respiratory diseases encompass a group of diverse conditions affecting the airways, which all impair lung function over time. They include cystic fibrosis, idiopathic pulmonary fibrosis, chronic obstructive pulmonary disease, and asthma, which together affect hundreds of millions of people worldwide. MicroRNAs (miRNAs), a class of small non-coding RNAs involved in post-transcriptional gene repression, are now recognized as major regulators in the development and progression of chronic lung disease. Alterations in miRNA abundance occur in lung tissue, inflammatory cells, and freely circulating in blood and are thought to function both as drivers and modifiers of disease...
November 27, 2017: Biological Chemistry
https://www.readbyqxmd.com/read/29148881/ultrarapid-influence-of-buprenorphine-on-major-depression-in-opioid-dependent-patients-a-double-blind-randomized-clinical-trial
#5
Jamshid Ahmadi, Mina Sefidfard Jahromi
OBJECTIVE: To examine the impact of different doses of buprenorphine on depression symptoms in opioid dependent inpatient over a three-day interval, using a randomized clinical trial design (RCT). DESIGN: Patients were randomized and assigned to three groups. PARTICIPANTS: Forty males who were admitted to an inpatient psychiatric unit and who fulfilled the DSM-5 criteria for both opioid dependence and major depressive disorder. INTERVENTION: Patients randomly received 32 mg, 64 mg, or 96 mg of buprenorphine as a single high dose...
November 17, 2017: Substance Use & Misuse
https://www.readbyqxmd.com/read/29148123/donohue-syndrome-a-review-of-literature-case-series-and-anesthetic-considerations
#6
REVIEW
Alana Kirkwood, Grant Stuart, Louise Harding
BACKGROUND: Donohue syndrome is a rare autosomal recessive disorder of insulin resistance, causing a functional defect in insulin receptor function, and affecting the ability of the insulin to bind the receptor. Features include severe hyperinsulinism and fasting hypoglycemia, along with severe failure to thrive despite feeding. An accelerated fasting state results in muscle wasting, decreased subcutaneous fat, and an excess of thick skin. A reduced thoracic diameter is accentuated by increased abdominal distension, which impacts on respiratory reserve...
November 17, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29146723/nocturnal-serum-melatonin-levels-in-sulfur-mustard-exposed-patients-with-sleep-disorders
#7
Seyyedeh Soghra Mousavi, E Vahedi, M Shohrati, Y Panahi, S Parvin
BACKGROUND: Sulfur mustard (SM) exposure causes respiratory disorders, progressive deterioration in lung function and mortality in injured victims and poor sleep quality is one of the most common problems among SM-exposed patients. Since melatonin has a critical role in regulation of sleep and awareness, this study aimed to evaluate the serum melatonin levels in SM-injured subjects. METHODS: A total of 30 SM-exposed male patients and 10 controls was evaluated. Sleep quality was evaluated by the Pittsburgh Sleep Quality Index (PSQI); daytime sleepiness was measured by the Epworth Sleepiness Scale (ESS), and the risk of obstructive sleep apnoea was determined by the STOP-Bang questionnaire...
November 16, 2017: Journal of the Royal Army Medical Corps
https://www.readbyqxmd.com/read/29145311/pulmonary-hypertension-as-a-manifestation-of-mitochondrial-disease-a-case-report-and-review-of-the-literature
#8
Shan Xu, Xiaoling Xu, Jisong Zhang, Kejing Ying, Yuquan Shao, Ruifeng Zhang
BACKGROUND: Mitochondrial diseases are a group of multisystem heterogeneous diseases caused by pathologic dysfunction of the mitochondrial respiratory chain. A wide range of clinical expression has been described. However, pulmonary hypertension has rarely been described in association with mitochondrial disease until the past decade, and there is no currently recognized treatment for the pulmonary hypertension complicated with mitochondrial disorder. PATIENT CONCERNS: We reported the case of a 15-year-old boy who presented with shortness of breath and exercise limitation after a cold, and the diagnosis of pulmonary hypertension was confirmed by right heart catheter...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29144565/rethinking-status-dystonicus
#9
REVIEW
Marta Ruiz-Lopez, Alfonso Fasano
Status dystonicus is a movement disorder emergency that has been a source of controversy in terms of terminology, phenomenology, and management since it was first described in 1982. Here we argue that the current use of the term status dystonicus falls well short of the precision needed for either clinical or academic use. We performed a critical review on this topic, describing possible pathophysiological mechanisms and areas of uncertainties. This review also addresses the problems derived by the extreme clinical heterogeneity of this condition, as the lack of an objective criterion useful for the definition, or the fact that status dystonicus may present not only in the context of a known dystonic syndrome...
November 16, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29144446/structure-and-assembly-of-the-ebola-virus-nucleocapsid
#10
William Wan, Larissa Kolesnikova, Mairi Clarke, Alexander Koehler, Takeshi Noda, Stephan Becker, John A G Briggs
Ebola and Marburg viruses are filoviruses: filamentous, enveloped viruses that cause haemorrhagic fever. Filoviruses are within the order Mononegavirales, which also includes rabies virus, measles virus, and respiratory syncytial virus. Mononegaviruses have non-segmented, single-stranded negative-sense RNA genomes that are encapsidated by nucleoprotein and other viral proteins to form a helical nucleocapsid. The nucleocapsid acts as a scaffold for virus assembly and as a template for genome transcription and replication...
November 16, 2017: Nature
https://www.readbyqxmd.com/read/29142792/spinal-muscular-atrophy-the-treatment-approved
#11
Rabih Tabet, Sandy El Bitar, Julie Zaidan, Garbis Dabaghian
Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder resulting in progressive muscle weakness and atrophy. It is universally fatal, especially if the respiratory muscles are involved leading to repetitive aspiration and respiratory failure. Historically, the treatment for this disease was only supportive. Herein we describe an adult patient who presented with worsening weakness and fatigue and was subsequently diagnosed with spinal muscular atrophy. Increased awareness of this condition and a new treatment modality is required...
September 2, 2017: Curēus
https://www.readbyqxmd.com/read/29142554/vitamin-d-supplementation-improves-fev1-in-patients-of-bronchial-asthma
#12
Muhammad Zafar Majeed Babar, Mazhar Hussain, Sadia Abdul Majeed
Background and Objective: Vitamin D deficiency has strong association with various respiratory disorders in which bronchial asthma is one of them. The objective was to determine the efficacy of vitamin D supplementation in cases with bronchial asthma. Methods: This case control study was conducted at private clinical set up of district, Rahim Yar Khan from August to October 2016 in which 100 cases of bronchial asthma were randomly divided into Group-A and Group-B each contained 50 patients...
September 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29142091/physiological-and-pathophysiological-firing-properties-of-single-postganglionic-sympathetic-neurons-in-humans
#13
Vaughan G Macefield, B Gunnar Wallin
It has long been known from microneurographic recordings in human subjects that activity of postganglionic sympathetic axons occurs as spontaneous bursts, with muscle sympathetic nerve activity (MSNA) exhibiting strong cardiac rhythmicity via the baroreflex and skin sympathetic nerve activity (SSNA) showing much weaker cardiac modulation. Here we review the firing properties of single sympathetic neurons, obtained using highly selective microelectrodes. Individual vasoconstrictor neurons supplying muscle or skin, or sudomotor neurones supplying sweat glands, always discharge with a low firing probability (~30%) and at very low frequencies (~0...
November 15, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/29139381/-titin-related-muscle-disorders-an-expanding-spectrum
#14
Ana Ferreiro, J Andoni Urtizberea
Titin-related diseases of the skeletal and cardiac muscles open a new, fruitful chapter of myology. Confined for a long time to a limited number of clinical entities, the phenotypic spectrum of titinopthies is nowadays expanding rapidly together with the discovery of many pathogenic mutations of the TTN gene. Like for many genes of large size, the fine tuning and use of high-throughput sequencing (NGS) constitutes a little revolution in the field. This powerful tool allows, although with real technical hurdles, the establishment of the definite diagnosis of titinopathy...
November 2017: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/29138863/therapeutic-effect-of-ulinastatin-on-pulmonary-fibrosis-via-downregulation-of-tgf%C3%A2-%C3%AE-1-tnf%C3%A2-%C3%AE-and-nf%C3%A2-%C3%AE%C2%BAb
#15
Dejun Li, Hongsheng Ji, Bao Zhao, Chunyang Xu, Wenjun Xia, Lihui Han, Dongqing Yu, Yuanrong Ju, Changjun Jin
Pulmonary fibrosis is a chronic, progressive, lethal lung disease characterized by alveolar cell necrosis and dysplasia of interstitial fibrotic tissue, resulting in loss of lung function and eventual respiratory failure. Previously, glucocorticoid drugs were used to treat this lung disorder. However, positive responses were recorded in less than half of treated patients and the cytotoxicity caused by high dosage treatment is still a concern. The present study investigated whether ulinastatin, a typical urinary trypsin inhibitor that mitigates numerous inflammatory responses, could be a treatment option for lung fibrosis...
November 14, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29138672/testosterone-upregulates-the-expression-of-mitochondrial-nd1-and-nd4-and-alleviates-the-oxidative-damage-to-the-nigrostriatal-dopaminergic-system-in-orchiectomized-rats
#16
Wensheng Yan, Yunxiao Kang, Xiaoming Ji, Shuangcheng Li, Yingkun Li, Guoliang Zhang, Huixian Cui, Geming Shi
Testosterone deficiency, as a potential risk factor for aging and aging-related neurodegenerative disorders, might induce mitochondrial dysfunction and facilitate the declines of the nigrostriatal dopaminergic system by exacerbating the mitochondrial defects and increasing the oxidative damage. Thus, how testosterone levels influence the mitochondrial function in the substantia nigra was investigated in the study. The present studies showed that testosterone deficiency impaired the mitochondrial function in the substantia nigra and induced the oxidative damage to the substantia nigra as well as the deficits in the nigrostriatal dopaminergic system...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29138550/overlaps-and-uncertainties-of-smoking-related-idiopathic-interstitial-pneumonias
#17
REVIEW
So Hyeon Bak, Ho Yun Lee
Smoking-related interstitial lung disease (ILD) consists of a heterogeneous group of disorders that are considered a distinct entity. The 2013 American Thoracic Society and European Respiratory Society recommendations classified respiratory bronchiolitis (RB)/RB-ILD and desquamative interstitial pneumonia (DIP) as smoking-related idiopathic interstitial pneumonias (IIPs). The overlapping histopathological and radiological patterns of smoking-related IIPs must be considered. Overlap patterns of smoking-related IIPs are not easily classified as a single disorder...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/29138047/antibacterial-effect-and-dna-delivery-using-a-combination-of-an-arsonium-containing-lipophosphoramide-with-an-n-heterocyclic-carbene-silver-complex-potential-benefits-for-cystic-fibrosis-lung-gene-therapy
#18
Angélique Mottais, Mathieu Berchel, Yann Sibiril, Véronique Laurent, Deborah Gill, Stephen Hyde, Paul-Alain Jaffrès, Tristan Montier, Tony Le Gall
Cystic Fibrosis (CF), the most common chronic genetic disorder among the Caucasian population, is a life-threatening disease mainly due to respiratory failures resulting from chronic infections and inflammation. Although research in the pharmacological field has recently made significant progress, gene therapy still remains a promising strategy to cure CF, especially because it should be applicable to any patient whatever the mutation profile. Until now, little attention has been paid to bacterial lung infections with regard to gene delivery to the airways; yet, this could greatly impact on the success of gene therapy...
November 11, 2017: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/29137869/morbidity-and-mortality-in-homeless-individuals-prisoners-sex-workers-and-individuals-with-substance-use-disorders-in-high-income-countries-a-systematic-review-and-meta-analysis
#19
Robert W Aldridge, Alistair Story, Stephen W Hwang, Merete Nordentoft, Serena A Luchenski, Greg Hartwell, Emily J Tweed, Dan Lewer, Srinivasa Vittal Katikireddi, Andrew C Hayward
BACKGROUND: Inclusion health focuses on people in extremely poor health due to poverty, marginalisation, and multimorbidity. We aimed to review morbidity and mortality data on four overlapping populations who experience considerable social exclusion: homeless populations, individuals with substance use disorders, sex workers, and imprisoned individuals. METHODS: For this systematic review and meta-analysis, we searched MEDLINE, Embase, and the Cochrane Library for studies published between Jan 1, 2005, and Oct 1, 2015...
November 10, 2017: Lancet
https://www.readbyqxmd.com/read/29137224/role-of-the-inflammasome-in-chronic-obstructive-pulmonary-disease-copd
#20
Chiara Colarusso, Michela Terlizzi, Antonio Molino, Aldo Pinto, Rosalinda Sorrentino
Inflammation is central to the development of chronic obstructive pulmonary disease (COPD), a pulmonary disorder characterized by chronic bronchitis, chronic airway obstruction, emphysema, associated to progressive and irreversible decline of lung function. Emerging genetic and pharmacological evidence suggests that IL-1-like cytokines are highly detected in the sputum and broncho-alveolar lavage (BAL) of COPD patients, implying the involvement of the multiprotein complex inflammasome. So far, scientific evidence has focused on nucleotide-binding oligomerization domain-like receptors protein 3 (NLRP3) inflammasome, a specialized inflammatory signaling platform that governs the maturation and secretion of IL-1-like cytokines through the regulation of caspase-1-dependent proteolytic processing...
October 10, 2017: Oncotarget
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