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https://www.readbyqxmd.com/read/28550758/platelets-and-hemophilia-a-review-of-the-literature
#1
REVIEW
Julia Riedl, Cihan Ay, Ingrid Pabinger
Hemophilia A and B are inherited bleeding disorders due to deficiencies of the clotting factors VIII and IX, respectively. The severity of the disease correlates with remaining factor levels, although individual differences in bleeding tendency are seen despite similar factor levels. While thrombin generation is severely impaired in persons with hemophilia, primary hemostasis, i.e. platelet function, has been generally considered to be normal. However, some studies reported prolonged bleeding times in hemophilia, suggesting that also primary hemostasis is affected...
May 13, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28550741/exploring-syndrome-differentiation-using-non-negative-matrix-factorization-and-cluster-analysis-in-patients-with-atopic-dermatitis
#2
Younghee Yun, Wonmo Jung, Hyunho Kim, Bo-Hyoung Jang, Min-Hee Kim, Jiseong Noh, Seong-Gyu Ko, Inhwa Choi
Syndrome differentiation (SD) results in a diagnostic conclusion based on a cluster of concurrent symptoms and signs, including pulse form and tongue color. In Korea, there is a strong interest in the standardization of Traditional Medicine (TM). In order to standardize TM treatment, standardization of SD should be given priority. The aim of this study was to explore the SD, or symptom clusters, of patients with atopic dermatitis (AD) using non-negative factorization methods and k-means clustering analysis...
May 22, 2017: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/28550735/clarithromycin-inhibits-tnf-%C3%AE-induced-muc5ac-mucin-gene-expression-via-the-mkp-1-p38mapk-dependent-pathway
#3
Said Ahmad Shah, Hajime Ishinaga, Kazuhiko Takeuchi
Clarithromycin is a 14-membered macrolide antibiotic. Low-dose, long-term macrolide therapy is effective in patients with chronic airway diseases, such as diffuse panbronchitis, chronic bronchitis, and chronic sinusitis. However, the mechanism underlying this clinical efficacy remains unclear. The dual specificity phosphatase MKP-1 (MAPK phosphatase-1), also called DUSP (dual specificity phosphatase-1), was initially identified as an in vitro ERK-specific phosphatase, but depending on the cell type, it can also dephosphorylate other members of the MAPK family, such as p38 and JNK, and thus suppress downstream signaling of these kinases...
May 24, 2017: International Immunopharmacology
https://www.readbyqxmd.com/read/28550723/tyrosine-receptor-kinase-b-gene-variants-ntrk2-variants-are-associated-with-depressive-disorders-in-temporal-lobe-epilepsy
#4
Carolina Machado Torres, Marina Siebert, Hugo Bock, Suelen Mandelli Mota, Juliana Unis Castan, Francisco Scornavacca, Luiza Amaral de Castro, Maria Luiza Saraiva-Pereira, Marino Muxfeldt Bianchin
RATIONALE: Psychiatric comorbidities are highly prevalent in epilepsy, adding an important burden to the disease and profoundly affecting the quality of life of these individuals. Patients with temporal lobe epilepsy (TLE) are especially at risk to develop depression and several lines of evidence suggest that the association of depression with epilepsy might be related to common biological substrates. In this study, we test whether NTRK2 allele variants are associated with mood disorders or depressive disorders in patients with TLE...
May 24, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28550707/micrornas-correlate-with-multiple-sclerosis-and-neuromyelitis-optica-spectrum-disorder-in-a-chinese-population
#5
Jianglong Chen, Jiting Zhu, Zeng Wang, Xiaoping Yao, Xuan Wu, Fang Liu, Weidong Zheng, Zhiwen Li, Aiyu Lin
BACKGROUND Recent studies identified a set of differentially expressed miRNAs in whole blood that may discriminate neuromyelitis optica spectrum disorders (NMOSD) from relapsing-remitting multiple sclerosis (RRMS). This study invalidated 9 known miRNAs in Chinese patients. MATERIAL AND METHODS The levels of miRNAs in whole blood were assayed in healthy controls (n=20) and patients with NMOSD (n=45), RRMS (n=17) by quantitative real-time polymerase chain reaction (qRT-PCR), and pairwise-compared between groups...
May 27, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28550591/cardiovascular-risk-in-survivors-of-cancer
#6
REVIEW
Henry Chen Zheng, Laura Onderko, Sanjeev A Francis
PURPOSE OF REVIEW: Survivors of childhood and adult cancers face increased risk of cardiovascular disease. We review the current evidence base and guidelines for this rapidly growing population. RECENT FINDINGS: Research continues to show that cardiovascular disease is an important cause of morbidity and mortality in cancer survivors. Cardiotoxicity related to chemotherapy and radiotherapy accounts for part of this increased risk. There is emerging evidence that cancer and cardiovascular disease share a similar biology and risk factors...
July 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28550590/exome-sequencing-identifies-candidate-genetic-modifiers-of-syndromic-and-familial-thoracic-aortic-aneurysm-severity
#7
Benjamin J Landis, Jeffrey A Schubert, Dongbing Lai, Anil G Jegga, Amy R Shikany, Tatiana Foroud, Stephanie M Ware, Robert B Hinton
Thoracic aortic aneurysm (TAA) is a genetic disease predisposing to aortic dissection. It is important to identify the genetic modifiers controlling penetrance and expressivity to improve clinical prognostication. Exome sequencing was performed in 27 subjects with syndromic or familial TAA presenting with extreme phenotypes (15 with severe TAA; 12 with mild or absent TAA). Family-based analysis of a subset of the cohort identified variants, genes, and pathways segregating with TAA severity among three families...
May 26, 2017: Journal of Cardiovascular Translational Research
https://www.readbyqxmd.com/read/28550491/influence-of-diet-on-the-course-of-inflammatory-bowel-disease
#8
Laura Tasson, Cristina Canova, Maria Grazia Vettorato, Edoardo Savarino, Renzo Zanotti
BACKGROUND: While the importance of diet in the pathogenesis of inflammatory bowel disease (IBD) is generally recognized, influence of food on the course of IBD is little understood. AIM: The purpose of this study was to assess the association between food intake and course of disease in patients with IBD. METHODS: We performed a cross-sectional study on 103 adult patients (50 with active disease and 53 in remission, divided by their calprotectin level), who completed a food frequency questionnaire on their intake of several foods over 1 year...
May 26, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28550490/the-use-of-temporary-fecal-diversion-in-colonic-and-perianal-crohn-s-disease-does-not-improve-outcomes
#9
Andrea C Bafford, Anastasiya Latushko, Natasha Hansraj, Guruprasad Jambaulikar, Leyla J Ghazi
AIMS: To determine whether temporary fecal diversion for refractory colonic and/or perianal Crohn's disease can lead to clinical remission and restoration of intestinal continuity after optimization of medical therapy. METHODS: We retrospectively reviewed our prospectively maintained database of patients treated at the University of Maryland for Crohn's disease between May 2004 and July 2014. Patients with colonic, perianal, or colonic and perianal Crohn's disease, who had fecal diversion for control of medically refractory and/or severe disease, were included...
May 26, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28550484/respiratory-involvement-in-ambulant-and-non-ambulant-patients-with-facioscapulohumeral-muscular-dystrophy
#10
Sandra Moreira, Libby Wood, Debbie Smith, Chiara Marini-Bettolo, Michela Guglieri, Grace McMacken, Geraldine Bailey, Anna Mayhew, Robert Muni-Lofra, Gail Eglon, Maggie Williams, Volker Straub, Hanns Lochmüller, Teresinha Evangelista
Understand the occurrence and predictors of respiratory impairment in FSHD. Data from 100 FSHD patients was collected regarding demographics, genetics, respiratory status and pulmonary function tests, clinical manifestations and Clinical Severity Scale (CSS) scores. Patients were assigned to two severity groups using CSS: mild (scores <3.5) and moderate/severely affected (scores ≥3.5). Forced Vital Capacity (FVC) was classified as severely impaired if less than 50% of the predicted. Statistical analysis was performed using IBM SPSS Statistics 23, tests were two-tailed and the level of significance set at 5%...
May 26, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28550477/iodinated-contrast-agents-in-patients-with-myasthenia-gravis-a-retrospective-cohort-study
#11
Jakob Rath, Matthias Mauritz, Gudrun Zulehner, Eva Hilger, Hakan Cetin, Gregor Kasprian, Eduard Auff, Fritz Zimprich
Currently, it has not been satisfactorily established, whether modern low-osmolality iodinated contrast agents (ICAs) used in computed tomography (CT) studies are a risk factor for exacerbation of myasthenic symptoms. The rate of acute adverse events as well as delayed clinical worsening up to 30 days were analyzed in 73 patients with confirmed myasthenia gravis (MG) who underwent contrast-enhanced CT studies and compared to 52 patients who underwent unenhanced CT studies. One acute adverse event was documented...
May 26, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28550476/stroke-and-other-cardiovascular-events-in-patients-with-obstructive-sleep-apnea-and-the-effect-of-continuous-positive-airway-pressure
#12
Mirjam H Schipper, Korne Jellema, Bregje J W Thomassen, Diego Alvarez-Estevez, Johan Verbraecken, Roselyne M Rijsman
Obstructive sleep apnea (OSA) is a known-risk factor for cardiovascular diseases. There are indications that treatment with continuous positive airway pressure (CPAP) reduces the risk of new cardiovascular events. In this study, we analyzed the incidence of cardiovascular events in patients with OSA and compared for the impact of CPAP therapy. All polysomnographies performed in 2009 and 2010 were selected with an AHI ≥5 and patients older than 18 years. These 1110 patients were approached with a questionnaire about cardiovascular events and CPAP treatment...
May 26, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28550457/treatment-of-juvenile-dermatomyositis-an-update
#13
REVIEW
Charalampia Papadopoulou, Lucy R Wedderburn
The idiopathic inflammatory myopathies of childhood consist of a heterogeneous group of autoimmune diseases characterised by proximal muscle weakness and pathognomonic skin rashes. The overall prognosis of juvenile myositis has improved significantly over recent years, but the long-term outcome differs substantially from patient to patient, suggestive of distinct clinical phenotypes with variable responses to treatment. High doses of corticosteroids remain the cornerstone of therapy along with other immunosuppressant therapies depending on disease severity and response...
May 26, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28550444/illness-perception-is-a-strong-parameter-on-anxiety-and-depression-scores-in-early-stage-breast-cancer-survivors-a-single-center-cross-sectional-study-of-turkish-patients
#14
Tulay Kus, Gokmen Aktas, Hatice Ekici, Gulcin Elboga, Sabire Djamgoz
BACKGROUND: Illness perception has been suggested to have a significant effect on anxiety and depression in cancer patients. In this cross-sectional study, we aimed to evaluate this on Turkish breast cancer patients with follow-up periods up to 12 years. PATIENTS AND METHODS: A total of 225 patients (with 6 months to 12 years follow-up) were recruited in this cross-sectional study. The patients were divided into three groups of follow-up: 6 months-2 years, 2-5 years, and >5 years...
May 26, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28550440/csf-concentrations-of-adipsin-and-adiponectin-in-patients-with-amyotrophic-lateral-sclerosis
#15
Héctor R Martínez, César E Escamilla-Ocañas, Carlos R Camara-Lemarroy, María T González-Garza, Juan M Tenorio-Pedraza, Martín Hernández-Torre
Amyotrophic lateral sclerosis (ALS) is described as a neurodegenerative disorder. However, neuroinflammation and chemokine expression are prominent pathological finding at sites of injury. Adipsin and adiponectin are molecules that are implicated in the pathogenesis of neurodegenerative and neuroimmune disorders. Adipsin and adiponectin concentrations were determined in the CSF of ALS patients and controls and the relationship of these chemokines with clinical severity and disease duration in ALS was determined...
May 26, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28550408/bacillus-pumilus-strain-yspmk11-as-plant-growth-promoter-and-bicontrol-agent-against-sclerotinia-sclerotiorum
#16
Manoj Kaushal, Ajay Kumar, Rajesh Kaushal
A study was executed in a direction to attenuate Sclerotinia stalk rot (SSR) disease through biocontrol agent and also to enhance crop productivity. Culture filtrate of bacterial strain YSPMK11 inhibited growth of Sclerotinia sclerotiorum in vitro which also exhibited higher plant growth promoting attributes. Interaction studies revealed maximum (81.50%) growth inhibition at 35 °C and pH 7.0 after 72 h incubation period with 15% culture filtrate. Based upon 16S rRNA gene sequence strain, YSPMK11 was identified as Bacillus pumilus...
June 2017: 3 Biotech
https://www.readbyqxmd.com/read/28550381/treatment-of-dyslipidemia-using-crispr-cas9-genome-editing
#17
REVIEW
Alexandra C Chadwick, Kiran Musunuru
PURPOSE OF REVIEW: Clustered regularly interspaced short palindromic repeat (CRISPR)/CRISPR-associated 9 (Cas9) has recently emerged as a top genome editing technology and has afforded investigators the ability to more easily study a number of diseases. This review discusses CRISPR/Cas9's advantages and limitations and highlights a few recent reports on genome editing applications for alleviating dyslipidemia through disruption of proprotein convertase subtilisin/kexin type 9 (PCSK9)...
July 2017: Current Atherosclerosis Reports
https://www.readbyqxmd.com/read/28550266/assessing-decline-visualising-progression-in-huntington-s-disease-using-a-clinical-dashboard-with-enroll-hd-data
#18
Thomas Walker, Boyd Ghosh, Christopher Kipps
BACKGROUND: In Huntington's disease (HD), it remains unclear how symptom severity and rate of symptomatic change relates to age and CAG repeat number (CAGn). It is often difficult for clinicians to assess whether an affected individual's symptoms are progressing at a similar rate to their affected peers, limiting their ability to intervene at the most appropriate time. OBJECTIVE: To develop a clinical dashboard that compares an individual's total motor score (TMS), total functional capacity (TFC) and symbol digit modality test (SDMT) scores against a global cohort, controlling for age and CAGn...
May 24, 2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28550255/sembragiline-in-moderate-alzheimer-s-disease-results-of-a-randomized-double-blind-placebo-controlled-phase-ii-trial-mayflower-road
#19
Stephane Nave, Rachelle S Doody, Mercè Boada, Timo Grimmer, Juha-Matti Savola, Paul Delmar, Meike Pauly-Evers, Tania Nikolcheva, Christian Czech, Edilio Borroni, Benedicte Ricci, Juergen Dukart, Marie Mannino, Tracie Carey, Emma Moran, Inma Gilaberte, Nicoletta Milani Muelhardt, Irene Gerlach, Luca Santarelli, Susanne Ostrowitzki, Paulo Fontoura
BACKGROUND: Sembragiline is a potent, selective, long-acting, and reversible MAO-B inhibitor developed as a potential treatment for Alzheimer's disease (AD). OBJECTIVE: To evaluate the safety, tolerability, and efficacy of sembragiline in patients with moderate AD. METHODS: In this Phase II study (NCT01677754), 542 patients with moderate dementia (MMSE 13-20) on background acetylcholinesterase inhibitors with/without memantine were randomized (1:1:1) to sembragiline 1 mg, 5 mg, or placebo once daily orally for 52 weeks...
May 26, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28550252/exploring-potential-electrophysiological-biomarkers-in-mild-cognitive-impairment-a-systematic-review-and-meta-analysis-of-event-related-potential-studies
#20
Lihua Gu, Zhijun Zhang
BACKGROUND: Early diagnosis and effective management are pivotal steps in preventing the transition from mild cognitive impairment (MCI) to Alzheimer's disease. Previous investigations indicated that some event-related potential (ERP) components in MCI are sensitive to cognitive decline. However, several comparative analyses of these components in MCI and healthy controls (HC) yielded inconsistent results. OBJECTIVE: The aim was to perform a systematic review and meta-analysis of ERP studies on MCI patients...
May 26, 2017: Journal of Alzheimer's Disease: JAD
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