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https://www.readbyqxmd.com/read/28640947/clinico-molecular-analysis-of-eleven-patients-with-hermansky-pudlak-type-5-syndrome-a-mild-form-of-hps
#1
Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, Alain Verloes, Yaumara Perdomo-Trujillo, Christian Hamel, Nursel H Elcioglu, Bart Leroy, Josseline Kaplan, Pierre-Simon Jouk, Didier Lacombe, Patricia Fergelot, Fanny Morice-Picard, Benoit Arveiler
Hermansky-Pudlak syndrome (HPS), first described in 1959, is a rare form of syndromic oculocutaneous albinism associated with bleeding diathesis and in some cases pulmonary fibrosis and granulomatous colitis. All 10 HPS types are caused by defects in vesicle trafficking of lysosomes-related organelles (LRO) proteins. The HPS5 protein associates with HPS3 and HPS6 to form the Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2). Here we report the clinical and genetic data of 11 HPS-5 patients analyzed in our laboratory...
June 22, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28640782/perioperative-venous-thromboembolism-a-review
#2
Ronald J Gordon, Frederick W Lombard
Venous thromboembolism (VTE) is a significant problem in the perioperative period, increasing patient morbidity, mortality, and health care costs. It is also considered the most preventable of the major postoperative complications. Despite widespread adoption of prophylaxis guidelines, it appears that morbidity from the disease has not substantially changed within the past 2 decades. It is becoming clear that current prophylaxis efforts are not sufficient. Using more potent anticoagulants may decrease the incidence of VTE, but increase the risk for bleeding and infection...
June 20, 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28636084/co-morbidities-and-bleeding-in-elderly-patients-with-haemophilia-a-survey-of-the-german-austrian-and-swiss-society-of-thrombosis-and-haemostasis-research-gth
#3
W Miesbach, S-E Reitter-Pfoertner, R Klamroth, F Langer, H-H Wolf, A Tiede, B Siegmund, U Scholz, P R Müller, H Eichler, I Pabinger
BACKGROUND: Nowadays patients with haemophilia survive longer due to improvements in haemophilia care. It has been hypothesized that the bleeding type and frequency may vary with age and are influenced by co-morbidities and co-medication in elderly patients. OBJECTIVES: To investigate a large group of patients older than 60 years of age with haemophilia concerning haemophilia treatment, bleeding pattern changes, co-morbidities, co-medication, bleeding sites and patient mortality...
June 21, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28635328/dietary-implications-for-patients-receiving-long-term-oral-anticoagulation-therapy-for-treatment-and-prevention-of-thromboembolic-disease
#4
Emmanouela Kampouraki, Farhad Kamali
The effectiveness of oral anticoagulation therapy with warfarin (a vitamin K antagonist) in the treatment of thromboembolic disease, including stroke prophylaxis in patients with atrial fibrillation is well recognised. However, warfarin has a narrow therapeutic window and an unpredictable anticoagulation response, which make it difficult to achieve and maintain optimal anticoagulation. Various dietary factors, including sudden changes in eating patterns, can significantly alter anticoagulation control, thereby potentially exposing patients to the risk of bleeding or thromboembolic complications...
June 21, 2017: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/28635202/palliative-treatment-of-life-threatening-hemoptysis-with-silicone-stent-insertion-in-advanced-lung-cancer
#5
Emanuela Barisione, Carlo Genova, Marco Grosso, Mercedes Pasquali, Alessandro Blanco, Raffaella Felletti, Mario Salio
Massive hemoptysis is a stressful and life-threatening event that can occur in lung cancer patients. The management of this event is usually challenging, and can involve surgery, embolization, and bronchoscopy. Unfortunately, while surgery can offer a definitive solution to hemoptysis, lung cancer patients are often excluded from this approach. On the other hand, bronchial arterial embolization rarely results in long-term control of bleeding. Endoscopy allows a skilled physician to perform mechanical tamponade or laser photocoagulation of bleeding lesions and preserve the main airways...
May 18, 2017: Monaldi Archives for Chest Disease, Archivio Monaldi Per le Malattie del Torace
https://www.readbyqxmd.com/read/28634523/mallory-weiss-tear-after-violent-hiccups-a-rare-association
#6
Sankalp Dwivedi, Hussein Al-Hamid, Bradley J Warren
We present an unusual case of a 44-year-old male who developed violent hiccups soon after a ureteroscopy for nephrolithiasis; later, the forceful hiccups were followed by hematemesis. Upper esophagogastroduodenoscopy revealed Mallory-Weiss tears and esophageal erosions in the lower esophagus. Esophageal biopsy was unremarkable. The patient did not have a prior history of the gastrointestinal disorder. Although extracorporeal shock wave lithotripsy has on rare occasion been implicated in the development of gastrointestinal erosions, no such correlation exists for ureteroscopy and upper gastrointestinal bleeding in the management of nephrolithiasis...
January 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28633127/successful-endoscopic-treatment-of-gastric-phytobezoar-a-case-report
#7
Ippazio Ugenti, Elisabetta Travaglio, Elpiniki Lagouvardou, Onofrio Caputi Iambrenghi, Gennaro Martines
INTRODUCTION: Gastric bezoars are a rare condition associated with situations of gastric dysmotility and prior gastric surgery, though sometimes they can present without any risk factor. We describe the first successful treatment in medical literature of a large gastric bezoar in the outpatient setting through endoscopic fragmentation. CASE PRESENTATION: A 76-year-old man was referred to our outpatient endoscopy clinic because of dyspepsia and epigastric pain. Upper GI endoscopy with a standard endoscope revealed a 10-cm-diameter gastric phytobezoar with necrotic pressure ulcer of the angulus...
June 15, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28632810/hydralazine-associated-cutaneous-casculitis-presenting-with-aerodigestive-tract-involvement
#8
Laura E Levin, Cynthia Magro, James Horowitz, Joanna Harp
Hydralazine-induced small vessel vasculitis is a rare entity with a limited number of cases reported in the dermatologic literature. A characteristic pattern of acral pseudoembolic vesiculopustules with necrosis and ulceration has been suggested along with involvement of the aerodigestive tract, indicating mucosal involvement is an important feature of this disease. We report the case of a patient with hydralazine-induced vasculitis who exemplified this characteristic presentation associated with severe involvement of the aerodigestive tract and gastrointestinal tract bleeding...
May 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28632502/targeting-activated-protein-c-to-treat-hemophilia
#9
Stéphanie G I Polderdijk, Trevor P Baglin, James A Huntington
PURPOSE OF REVIEW: Hemophilia is a debilitating disease, marked by frequent, painful bleeding events, joint deterioration and early death. All current treatments consist of i.v. infusions of replacement factor or other procoagulant factors, and are incompletely effective, due in part to the short half-lives of the proteins. An alternative approach is to rebalance hemostasis by inhibiting natural anticoagulant mechanisms. In this article, we explain why activated protein C (APC) is an appropriate and safe target for the treatment of hemophilia...
June 16, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28630246/ominous-triad-triggered-by-high-dose-glucocorticosteroid-therapy
#10
Sarah Bär, Fritz Daudel, Thomas Zueger
Glucocorticosteroids (CS) play a key role in the treatment of numerous diseases. Nonetheless, they can be accompanied by several adverse effects. We present the case of a 51-year-old woman who was treated with high-dose CS for a relapse of her multiple sclerosis. After 5 days of treatment, the patient developed severe diabetic ketoacidosis, hypertriglyceridemia and acute pancreatitis-a potentially life-threatening triad which has previously been described, in our case, however, for the first time as a complication of CS therapy...
June 18, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28630121/a-novel-recombinant-human-thrombopoietin-therapy-for-the-management-of-immune-thrombocytopenia-in-pregnancy
#11
Zhangyuan Kong, Ping Qin, Shan Xiao, Hai Zhou, Hong Li, Renchi Yang, Xiaofan Liu, Jianmin Luo, Zhichun Li, Guochao Ji, Zhongguang Cui, Yusheng Bai, Yuxia Wu, Linlin Shao, Jun Peng, Jun Ma, Ming Hou
The aim of this study was to determine the safety and efficacy of recombinant human thrombopoietin (rhTPO) for the management of immune thrombocytopenia (ITP) during pregnancy. Pregnant ITP patients were enrolled in the study if they had a platelet count of < 30 × 10(9)/L, were experiencing bleeding manifestations, had failed to respond to corticosteroids and/or intravenous immunoglobulin (IVIG), and had developed refractoriness to platelet transfusion. Thirty-one patients received rhTPO at an initial dose of 300U/kg once daily for 14 days...
June 19, 2017: Blood
https://www.readbyqxmd.com/read/28630059/the-role-of-contraindications-in-prescribing-anticoagulants-to-patients-with-atrial-fibrillation-a-cross-sectional-analysis-of-primary-care-data-in-the-uk
#12
Nicola Adderley, Ronan Ryan, Tom Marshall
BACKGROUND: Underuse of anticoagulants in atrial fibrillation (AF) is an international problem, which has often been attributed to the presence of contraindications to treatment. No studies have assessed the influence of contraindications on anticoagulant prescribing in the UK. AIM: To determine the influence of contraindications on anticoagulant prescribing in patients with AF in the UK. DESIGN AND SETTING: Cross-sectional analysis of primary care data from 645 general practices contributing to The Health Improvement Network, a large UK database of electronic primary care records...
June 19, 2017: British Journal of General Practice: the Journal of the Royal College of General Practitioners
https://www.readbyqxmd.com/read/28629937/the-multi-mode-modulator-a-versatile-fluidic-device-for-two-dimensional-gas-chromatography
#13
John V Seeley, Nicolaas E Schimmel, Stacy K Seeley
A fluidic device called the multi-mode modulator (MMM) has been developed for use as a comprehensive two-dimensional gas chromatography (GC x GC) modulator. The MMM can be employed in a wide range of capacities including as a traditional heart-cutting device, a low duty cycle GC x GC modulator, and a full transfer GC x GC modulator. The MMM is capable of producing narrow component pulses (widths <50ms) while operating at flows compatible with high resolution chromatography. The sample path of modulated components is confined to the interior of a joining capillary...
June 13, 2017: Journal of Chromatography. A
https://www.readbyqxmd.com/read/28629420/comparison-of-the-effects-of-platelet-rich-or-growth-factor-rich-plasma-on-intestinal-anastomosis-healing-in-pigs
#14
Gessica Giusto, Cristina Vercelli, Selina Iussich, Massimiliano Tursi, Giovanni Perona, Marco Gandini
BACKGROUND: The use of autologous platelet-rich plasma (PRP) and plasma rich in growth factors (PRGF) has been proposed for the treatment of several acute and chronic syndromes, such as corneal epithelial defects and dry eye syndrome, gum bleeding during oral surgery, and in orthopaedic surgery. We hypothesized that PRGF, rather than PRP, could be more effective because of its intrinsic characteristics in promoting the healing of intestinal anastomosis. The purpose of the present study was to evaluate and compare the effects of PRP and PRGF on various parameters of anastomotic healing in a swine model...
June 19, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28629414/fibrinogen-deficiency-in-a-dog-a-case-report
#15
Franck Jolivet, Armelle Diquélou, Catherine Trumel, Simon Privat, Olivier Dossin
BACKGROUND: Among coagulation disorders, primary fibrinogen deficiency is very rare in dogs. It is divided into hypofibrinogenemia, afibrinogenemia and dysfibrinogenemia. Afibrinogenemia has been described in three dogs. There are, however, no published case reports of primary hypofibrinogenemia in dogs. CASE PRESENTATION: A 1.5 year-old male German Pointer dog was evaluated for a locked-jaw syndrome associated with eye protrusion which appeared after a minor head trauma...
June 19, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28629235/atrial-fibrillation-as-a-complication-of-ibrutinib-therapy-clinical-features-and-challenges-of-management
#16
Bronwyn C Thorp, Xavier Badoux
Ibrutinib is a Bruton's tyrosine kinase (BTK) inhibitor finding increasingly widespread use in non-Hodgkin lymphoma. Evidence of an increased risk of atrial fibrillation (AF) emerged in Phase III studies with a median incidence of approximately 6%. The mechanism remains unknown, but inhibition of a cardioprotective pathway has been proposed. Ibrutinib induces a platelet function defect, increasing the bleeding risk of anticoagulation for AF stroke prophylaxis. Multiple potential drug interactions are an added complication...
June 20, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28627951/the-safety-of-bruton-s-tyrosine-kinase-inhibitors-for-the-treatment-of-chronic-lymphocytic-leukemia
#17
Phu N Tran, Susan O'Brien
The approval of ibrutinib has revolutionized the therapeutic landscape of chronic lymphocytic leukemia (CLL). Currently ibrutinib is indicated for patients that are both treatment naïve as well as those with relapsed CLL. Ibrutinib is generally well-tolerated with durable responses that improve over time in most patients. Important toxicities include atrial fibrillation and bleeding. Areas Cover: This review covers the pharmacokinetics, pharmacodynamics, safety and efficacy of ibrutinib in the treatment of CLL...
June 19, 2017: Expert Opinion on Drug Safety
https://www.readbyqxmd.com/read/28626087/effect-of-obesity-and-underweight-status-on-perioperative-outcomes-of-congenital-heart-operations-in-children-adolescents-and-young-adults-an-analysis-of-data-from-the-society-of-thoracic-surgeons-database
#18
Michael L O'Byrne, Sunghee Kim, Christoph P Hornik, Babatunde A Yerokun, Roland A Matsouaka, Jeffrey P Jacobs, Marshall L Jacobs, Richard A Jonas
Background -Extreme BMI (either very high or very low) has been associated with increased risk of adverse perioperative outcome in adults undergoing cardiac surgery. The effect of body-mass index (BMI) on perioperative outcomes in congenital heart disease patients has not been evaluated. Methods -A multicenter retrospective cohort study was performed studying patients 10-35 years undergoing a congenital heart disease operation in the Society of Thoracic Surgeons Congenital Heart Surgery Database between 1/1/2010-12/31/2015...
June 16, 2017: Circulation
https://www.readbyqxmd.com/read/28625908/-on-the-spot-the-use-of-4d-cta-to-differentiate-a-true-spot-sign-from-a-distal-intracranial-aneurysm
#19
Johanna P de Jong, Leo Kluijtmans, Martinus J van Amerongen, Mathias Prokop, Hieronymus D Boogaarts, Frederick J A Meijer
BACKGROUND: Spontaneous intracerebral hemorrhage may arise from underlying abnormalities including aneurysms. Computed tomography angiography (CTA) is widely used for the detection of possible underlying causes, which is important since it may have immediate therapeutic consequences. In addition, CTA is used to detect the so-called "spot sign", indicating active hemorrhage which carries a worse prognosis. CTA is, however, a snapshot in time. Four-dimensional CTA (4D-CTA) is a dynamic type of imaging and has emerged as a valuable imaging technique for different neurovascular disorders...
June 15, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28625692/implementation-of-clinical-effectiveness-guidelines-for-solid-organ-injury-after-trauma-10-year-experience-at-a-level-1-pediatric-trauma-center
#20
Christine M Leeper, Isam Nasr, Abigail Koff, Christine McKenna, Barbara A Gaines
BACKGROUND: Diagnostic imaging of pediatric blunt abdominal trauma is evolving in light of increased attention to radiation exposure. We hypothesize that the implementation of imaging guidelines has reduced total CT scans without missing clinically significant injury. METHODS: We retrospectively reviewed blunt trauma patients age 0-17 with solid organ injury who underwent CT scan at our academic level 1 pediatric trauma center between 2005 and 2014. Variables including total annual trauma admissions and CT scans, demographics, injury characteristics, and procedures were recorded...
June 6, 2017: Journal of Pediatric Surgery
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