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https://www.readbyqxmd.com/read/28527173/gaucher-disease-presenting-in-an-adult-with-intracerebral-bleed
#1
Sandeep Nemani, Bhumi Agrawal, Sumita Danda, Biju George
Gaucher disease (GD) is the most common lysosomal storage disorder, caused by deficiency of acid beta glucosidase. GD usually presents in children but occasional cases can present in adulthood. Here we report a case of type I GD in a 37 year old female who presented with intracerebral bleed due to long standing thrombocytopenia. She underwent splenectomy in view of limited resources for enzyme replacement therapy. With splenectomy her platelet counts normalised and neurological status also improved.
April 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28523956/pathogen-reduction-technologies-the-pros-and-cons-for-platelet-transfusion
#2
Audrey Magron, Jonathan Laugier, Patrick Provost, Eric Boilard
The transfusion of platelets is essential for diverse pathological conditions associated with thrombocytopenia or platelet disorders. To maintain optimal platelet quality and functions, platelets are stored as platelet concentrates (PCs) at room temperature under continuous agitation-conditions that are permissive for microbial proliferation. In order to reduce these contaminants, pathogen reduction technologies (PRTs) were developed by the pharmaceutical industry and subsequently implemented by blood banks...
May 19, 2017: Platelets
https://www.readbyqxmd.com/read/28522826/disruption-of-melatonin-synthesis-is-associated-with-impaired-14-3-3-and-mir-451-levels-in-patients-with-autism-spectrum-disorders
#3
Cécile Pagan, Hany Goubran-Botros, Richard Delorme, Marion Benabou, Nathalie Lemière, Kerren Murray, Frédérique Amsellem, Jacques Callebert, Pauline Chaste, Stéphane Jamain, Fabien Fauchereau, Guillaume Huguet, Erik Maronde, Marion Leboyer, Jean-Marie Launay, Thomas Bourgeron
Autism spectrum disorders (ASD) are characterized by a wide genetic and clinical heterogeneity. However, some biochemical impairments, including decreased melatonin (crucial for circadian regulation) and elevated platelet N-acetylserotonin (the precursor of melatonin) have been reported as very frequent features in individuals with ASD. To address the mechanisms of these dysfunctions, we investigated melatonin synthesis in post-mortem pineal glands - the main source of melatonin (9 patients and 22 controls) - and gut samples - the main source of serotonin (11 patients and 13 controls), and in blood platelets from 239 individuals with ASD, their first-degree relatives and 278 controls...
May 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28515471/clinical-and-molecular-investigation-of-14-japanese-patients-with-complete-tfp-deficiency-a-comparison-with-caucasian-cases
#4
Ryosuke Bo, Kenji Yamada, Hironori Kobayashi, Purevsuren Jamiyan, Yuki Hasegawa, Takeshi Taketani, Seiji Fukuda, Ikue Hata, Yo Niida, Yosuke Shigematsu, Kazumoto Iijima, Seiji Yamaguchi
Mitochondrial trifunctional protein (TFP) deficiency is an inherited metabolic disorder of mitochondrial fatty-acid oxidation. Isolated long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is often reported in Caucasian countries due to a common mutation. However, the molecular and clinical basis of complete TFP deficiency has not been extensively reported. In this study, 14 Japanese cases (13 families) with complete TFP deficiency, including 9 previously reported cases, were analyzed to clarify the clinical and molecular characteristics of TFP deficiency...
May 18, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28514344/-erbium-laser-application-for-oral-surgery-in-patients-with-platelet-hemostatic-disorders
#5
E V Makarova, S V Tarasenko, A L Melikyan, A V Ponomarenko
Hemostatic disorders are typically associated with prolonged bleeding after or during surgical procedures. The aim of the study was to increase the efficiency of oral surgery in these patients using erbium laser. Selected 46 patients receiving oral surgery were randomly divided in 2 groups: 43 patients with thrombocytopenia, trombocytemia and other platelet disorders treated with erbium laser and a control group of 43 patients without concomitant pathology determined for conventional surgical treatment. No postoperative bleeding was seen in group 1...
2017: Stomatologii︠a︡
https://www.readbyqxmd.com/read/28513614/recurrent-somatic-jak-stat-pathway-variants-within-a-runx1-mutated-pedigree
#6
Kiran Tawana, Jun Wang, Péter A Király, Krisztián Kállay, Gábor Benyó, Marianna Zombori, Judit Csomor, Ahad Al Seraihi, Ana Rio-Machin, András Matolcsy, Claude Chelala, Jamie Cavenagh, Jude Fitzgibbon, Csaba Bödör
Germline variants within the transcription factor RUNX1 are associated with familial platelet disorder and acute leukemia in over 40% of carriers. At present, the somatic events triggering leukemic transformation appear heterogeneous and profiles of leukemia initiation across family members are poorly defined. We report a new RUNX1 family where three sisters harboring a germline nonsense RUNX1 variant, c.601C>T (p.(Arg201*)), developed acute myelomonocytic leukemia (AML) at 5 years of age. Whole-exome sequencing of tumor samples revealed all three siblings independently acquired variants within the JAK-STAT pathway, specifically targeting JAK2 and SH2B3 (a negative regulator of JAK2), while also sharing the 46/1 haplotype linked with sporadic JAK2-positive myeloproliferative neoplasms...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28506946/maternal-mortality-due-to-hypertensive-disorders-in-pregnancy-childbirth-and-the-puerperium-between-2012-and-2015-in-turkey-a-nation-based-study
#7
Bekir Keskinkılıç, Yaprak Engin-Üstün, Sema Sanisoğlu, Dilek Şahin Uygur, Hüseyin Levent Keskin, Selma Karaahmetoğlu, Ayşe Özcan, Meral Esen, Afra Alkan, Aysun Kabasakal, İrfan Şencan
OBJECTIVE: To analyze maternal deaths in Turkey due to hypertensive disorders. MATERIAL AND METHODS: In this retrospective study 812 maternal deaths were analyzed. Maternal demographic features, presence of antenatal care, medical and obstetric history, mode of delivery, and use emergency antihypertensive therapy were recorded. The delay model for each case was investigated. RESULTS: Hypertensive disorders accounted for 15.5% (n=126) out of all maternal mortality...
March 15, 2017: Journal of the Turkish German Gynecological Association
https://www.readbyqxmd.com/read/28504079/a-novel-nonsense-nbeal2-gene-mutation-causing-severe-bleeding-in-a-patient-with-gray-platelet-syndrome
#8
Lijuan Cao, Jian Su, Jiaming Li, Ziqiang Yu, Xia Bai, Zhaoyue Wang, Lijun Xia, Changgeng Ruan
Gray platelet syndrome (GPS) is a rare, inherited bleeding disorder characterized by the defect of platelet α-granule. Up to date, these are only four studies identifying NBEAL2 gene correlated with GPS. In the current report, we present a Chinese GPS patient who had severe bleeding tendency, abnormalities of platelet functions, and absence of platelet α-granules. Genomic DNA sequencing for the patient identified a nonsense mutation (g.27713C>A) of NBEAL2 gene (g.NG_031914.1) resulting in a premature protein (p...
May 15, 2017: Platelets
https://www.readbyqxmd.com/read/28501326/management-of-platelet-disorders-and-platelet-transfusions-in-icu-patients
#9
REVIEW
Neil Blumberg, Jill M Cholette, Amy E Schmidt, Richard P Phipps, Sherry L Spinelli, Joanna M Heal, Anthony P Pietropaoli, Majed A Refaai, Patricia J Sime
Thrombocytopenia or receipt of antiplatelet drugs, with or without bleeding, is a common indication for platelet transfusions in the ICU. However, there is almost no evidence base for these practices other than expert opinion. Also common is use of platelet transfusions prior to invasive procedures or surgery in patients with thrombocytopenia. Likewise, there is no high-quality evidence that such practices are efficacious or safe. Recently, it has become clear that, whether causal or not, patients receiving prophylactic platelet transfusions experience high rates of nosocomial infection, thrombosis, organ failure, and mortality, which increase the urgency and need for randomized trials to assess these practices...
May 4, 2017: Transfusion Medicine Reviews
https://www.readbyqxmd.com/read/28500685/analysis-of-serum-markers-of-cellular-immune-activation-in-patients-with-bullous-pemphigoid
#10
Katja Bieber, Anna Lara Ernst, Stefan Tukaj, Maike M Holtsche, Enno Schmidt, Detlef Zillikens, Ralf J Ludwig, Michael Kasperkiewicz
Experimental models of bullous pemphigoid (BP), the most frequent subepidermal autoimmune bullous disease, revealed that the immune response leading to blister formation represents an incompletely understood complex process involving different inflammatory cells. In contrast to previous reports commonly focusing on limited molecular and cellular phenotypes of the disease, the aim of this study was to investigate a broad spectrum of markers of cellular immune activation in patients with BP. We found that serum levels of soluble CD4, myeloperoxidase, S100A12, eosinophil cationic protein, and soluble P-selectin were significantly elevated in patients with active BP compared with normal controls...
May 13, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28497841/effect-of-fluid-resuscitation-with-balanced-solutions-on-platelets-in-vitro-simulation-of-20-volume-substitution
#11
Łukasz J Krzych, Piotr F Czempik
BACKGROUND: Fluid resuscitation in massive bleeding may cause coagulation disorders by dilution of platelets and clotting factors or by the definite influence on theirfunction. The aim of this study was to investigate the effects of balanced crystalloid and colloid solutions on platelets (PLT) in vitro using complex assessment of coagulation. METHODS: The study group was comprised of 32 American Society of Anesthesiologists physical status class I male volunteers, aged 21-35 (29 ± 4) years, weighting 59-103 (81...
May 12, 2017: Cardiology Journal
https://www.readbyqxmd.com/read/28493902/circulating-levels-of-sclerostin-but-not-dkk1-associate-with-laboratory-parameters-of-ckd-mbd
#12
Geert J Behets, Liesbeth Viaene, Björn Meijers, Frank Blocki, Vincent M Brandenburg, Anja Verhulst, Patrick C D'Haese, Pieter Evenepoel
INTRODUCTION: Mounting evidence indicates that a disturbed Wnt-β-catenin signaling may be involved in the pathogenesis of chronic kidney disease-mineral and bone and mineral disorder (CKD-MBD). Data on the impact of CKD on circulating levels of the Wnt antagonists sclerostin and Dickkopf related protein 1 (DKK1) and the relationship with laboratory parameters of CKD-MBD are incomplete. METHODS: We analyzed serum sclerostin and DKK1 in 308 patients across the stages of chronic kidney disease (kDOQI stage 1-2 n = 41; CKD stage 3 n = 54; CKD stage 4-5 n = 54; hemodialysis n = 100; peritoneal dialysis n = 59) as well as in 49 healthy controls...
2017: PloS One
https://www.readbyqxmd.com/read/28491138/clinicohematological-and-cytogenetic-profile-of-myelodysplastic-syndromes-in-pakistan-compare-and-contrast
#13
Nida Anwar, Aisha Arshad, Muhammad Nadeem, Sana Khurram, Naveena Fatima, Sumaira Sharif, Saira Shan, Tahir Shamsi
BACKGROUND: Myelodysplastic syndromes (MDS) are clonal stem cell disorders exhibiting cytopenias, ineffective hematopoiesis and morphological dysplasia. Bone marrow cytogenetics, inspite of being incorporated as mandatory tool in diagnosis are done less frequently due to limited availability of this technique in Pakistan. The aim of the study was to study baseline clinicohematological and cytogenetic characteristics of patients presenting with de novo MDS. RESULTS: A retrospective cross sectional study was done at National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, Pakistan from 2010 to 2016...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28490713/phospholipase-d-is-dispensable-for-epidermal-growth-factor-induced-chemotaxis
#14
Chihoko Hirai, Shaymaa Mohamed Mohamed Badawy, Lifang Zhang, Taro Okada, Taketoshi Kajimoto, Shunichi Nakamura
α-Synuclein (α-Syn) is implicated in several neurodegenerative disorders, including Parkinson's disease, known collectively as the synucleinopathies. α-Syn is known to be secreted from the cells and may contribute to the progression of the disease. Although extracellular α-Syn is shown to impair platelet-derived growth factor-induced chemotaxis, molecular mechanism of α-Syn-induced motility failure remains elusive. Here we have aimed at phospholipase D (PLD) as a potential target for α-Syn and examined the involvement of this enzyme in α-Syn action...
May 9, 2017: Kobe Journal of Medical Sciences
https://www.readbyqxmd.com/read/28487393/potent-thrombolytic-effect-of-n-acetylcysteine-on-arterial-thrombi
#15
Sara Martinez de Lizarrondo, Clément Gakuba, Bradley A Herbig, Yohann Repessé, Carine Ali, Cécile V Denis, Peter Lenting, Emmanuel Touzé, Scott L Diamond, Denis Vivien, Maxime Gauberti
Background -Platelet crosslinking during arterial thrombosis involves von Willebrand Factor (VWF) multimers. Therefore, proteolysis of VWF appears promising to disaggregate platelet-rich thrombi and restore vessel patency in acute thrombotic disorders such as ischemic stroke, acute coronary syndrome or acute limb ischemia. N-Acetylcysteine (NAC, a clinically approved mucolytic drug) can reduce intrachain disulfide bonds in large polymeric proteins. In the present study, we postulated that NAC might cleave the VWF multimers inside occlusive thrombi, thereby leading to their dissolution and arterial recanalization...
May 9, 2017: Circulation
https://www.readbyqxmd.com/read/28487256/lipopolysaccharide-lps-induced-pulmonary-neutrophil-recruitment-and-platelet-activation-is-mediated-via-the-p2y1-and-p2y14-receptors-in-mice
#16
R T Amison, S Arnold, B G O'Shaughnessy, S J Cleary, J Ofoedu, M Idzko, C P Page, S C Pitchford
Platelet activation occurs during host defence and in various inflammatory disorders. In animal models of infection and inflammation, experimental depletion of platelets leads to significantly reduced leukocyte recruitment and impaired clearance of pathogens from the lung. It is now appreciated that purinergic receptor activation is required for leukocyte activation, motility and adhesion, and platelet interactions with leukocytes can be modulated by purinergic stimulation of platelets. Here, we have investigated the role of platelet P2Y1, P2Y12, P2Y14, and P2X1 receptors on leukocyte recruitment and chemotaxis...
May 6, 2017: Pulmonary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28480350/therapeutic-efficacy-of-the-platelet-glycoprotein-ib-antagonist-anfibatide-in-murine-models-of-thrombotic-thrombocytopenic-purpura
#17
Liang Zheng, Yingying Mao, Mohammad S Abdelgawwad, Nicole K Kocher, Mandy Li, Xiangrong Dai, Benjamin Li, X Long Zheng
Thrombotic thrombocytopenic purpura (TTP), a potentially fatal blood clot disorder, is primarily caused by severe deficiency of plasma ADAMTS13 activity resulting from acquired autoantibodies. Plasma exchange is the only effective initial therapy. However, the high mortality rate and the complications associated with plasma exchange therapy remain a major concern. To address unmet clinical needs, therapeutic efficacies of anfibatide, a snake venom-derived platelet glycoprotein Ib antagonist, in murine models of spontaneous thrombocytopenia and shigatoxin-induced TTP were determined...
November 29, 2016: Blood Advances
https://www.readbyqxmd.com/read/28479792/platelet-serotonin-level-and-impulsivity-in-human-self-destructive-behavior-a-biological-and-psychological-study
#18
S Era Dutta, Sriniwas Gupta, M S V K Raju, Abhishek Kumar, Alka Pawar
CONTEXT: Suicide is a disease and a global public health problem. Suicidology has come to become a topic of study for intervention and research. The serotonin (5-hydroxytryptamine [5HT]) system has remained a prime area of investigation. The neurons and platelets display structural and functional similarities. Ninety-nine percent of 5HT is contained in platelets, which shares similar 5HT uptake and release mechanisms with 5HT neurons. AIMS: This study aims to study human self-destructive behavior (HSDB)...
April 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28479788/mean-platelet-volume-and-platelet-distribution-width-level-in-patients-with-panic-disorder
#19
Ramdas Sarjerao Ransing, Bharat Patil, Omityah Grigo
BACKGROUND: Changes in platelet indices have been reported in patients with panic disorder (PD). However, previous study findings are contradictory and inconclusive. The aim of this study was to evaluate and compare the platelet indices in patients with PD. MATERIALS AND METHODS: Patients with PD (n = 123) and healthy controls (n = 133) were enrolled in this case control study. The platelet indices (mean platelet volume [MPV] and platelet distribution width [PDW]) along with red blood cell (RBC) indices (RBC count and red cell distribution width [RDW]) were compared between the two groups using the unpaired t-test...
April 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28479785/red-blood-cell-and-platelet-indices-a-potential-biomarker-for-panic-disorder
#20
EDITORIAL
Roshan Bhad
No abstract text is available yet for this article.
April 2017: Journal of Neurosciences in Rural Practice
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