Identification of three novel pathogenic ITGA2B and one novel pathogenic ITGB3 mutations in patients with hereditary Glanzmann's thrombasthenia living in Eastern Turkey.

Identification of three novel pathogenic ITGA2B and one novel pathogenic ITGB3 mutations in patients with hereditary Glanzmann's thrombasthenia living in Eastern Turkey. Platelets. 2020 Feb 22;:1-5 Authors: Karaman K, Yürektürk E, Geylan H, Yaşar AŞ, Karaman S, Aymelek HS, Çetin M, Oner AF Abstract Glanzmann's thrombasthenia (GT) is an autosomal recessive disorder in which the underlying problem is the lack or dysfunction of the GpIIb/IIIa receptor on the platelet surface. The present study determines the genetic mutation typology and analyzes the association between mutation types and clinical findings in patients diagnosed with GT who were followed up in Department of Pediatric Hematology of the Yüzüncü Yıl University School of Medicine. The medical charts of 17 patients who underwent therapy and that were followed up in the Department of Pediatric Hematology of the Yüzüncü Yıl University Dursun Odabaş Medical Center between January 2008 and April 2018 were reviewed retrospectively. Data on such patient characteristics as present genetic mutations, age, gender, age at diagnosis, presenting symptoms, clinical findings, and platelet count and volume were garnered from the patient records. Of the 12 patients identified with genetic mutations, six had the same type of mutation, while four were identified with novel mutations that have to date not been defined in literature. Of these four mutations, three w...
Source: Platelets - Category: Hematology Tags: Platelets Source Type: research

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Authors: Li W, Zhou Y, Shang C, Sang H, Zhu H Abstract Background: Proton pump inhibitor (PPI) and other acid-suppressing drugs are widely used in the treatment of gastrointestinal ulcer, upper gastrointestinal bleeding, gastritis, and gastric cancer (GC). About 80% of GC patients receive acid suppression treatment. PPI suppresses the production of gastric acid by inhibiting the function of H+/K+-ATPase in gastric parietal cells and raises the pH value to achieve therapeutic purposes. Some studies have found that PPI had a certain antitumor effect in the proliferation and apoptosis of tumor cells. But the effects o...
Source: Gastroenterology Research and Practice - Category: Gastroenterology Tags: Gastroenterol Res Pract Source Type: research
Serious Complication of Anticoagulation in Vessel Thrombosis-associated Behçet Disease. Intern Med. 2020 Mar 26;: Authors: Ouchi K, Narui R, Sakuma T, Ojiri H Abstract Anticoagulation in venous thrombosis associated with Behçet disease (BD) is controversial. We herein report a 47-year-old woman with vessel thrombosis and pulmonary artery aneurysm (PAA) associated with BD who died of massive hemoptysis under oral anticoagulant. Although she was initially diagnosed with oral contraceptive-induced venous thromboembolism, a subsequent investigation led to a diagnosis of BD. Follow-up computed...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
We report a case of a 48-year-old woman with 9 months of rectal swelling and bleeding. Physical examination revealed a mass about 5 × 6 cm on the anterior wall of the rectum, 3 cm from the anal verge, and the patient underwent abdominoperineal resection (APR). After hematoxylin-eosin staining and immunohistochemical staining, it was considered an ARM, which is an aggressive disease with a poor survival. Immunohistochemical staining showed the tumor to be positive for S-100, Melan A, Ki67 proliferative index of 70%, and negative for HMB45. The melanoma had infiltrated the adventitia and metastasized to the (intestinal...
Source: International Journal of Clinical and Experimental Pathology - Category: Pathology Authors: Tags: Int J Clin Exp Pathol Source Type: research
RARITAN, NJ, March 28, 2020 – The Janssen Pharmaceutical Companies of Johnson &Johnson today announced the VOYAGER PAD study met its primary efficacy and principal safety endpoints, demonstrating the XARELTO® (rivaroxaban) vascular dose (2.5 mg twice daily) plus aspirin (100 mg once daily) was superior to aspirin alone in reducing the risk of major adverse limb and cardiovascular (CV) events by 15 percent in patients with symptomatic peripheral artery disease (PAD) after lower-extremity revascularization, with similar rates of TIMI[1] major bleeding. VOYAGER PAD is the only study to show a significant benefit...
Source: Johnson and Johnson - Category: Pharmaceuticals Tags: Innovation Source Type: news
Authors: Casajuana E, Mellado M, Cebrià M, Marcos L, Calsina L, Paredes E, Monreal M, Clarà A Abstract BACKGROUND: The present study aimed to evaluate changes in the incidence, patients' profile and indications of inferior vena cava filters at a single-center over the past two decades. METHODS: We retrospectively analyzed 187 consecutive patients with a venous thromboembolism requiring a filter at a tertiary hospital between 1999-2018. Within this period the availability of retrievable filters (since 2007) and the withdrawal of filter indication for recurrent venous thromboembolism from guidelines...
Source: International Angiology - Category: Cardiology Tags: Int Angiol Source Type: research
Conclusion: This study has a total complication rate of 16%, approximately 10% of those are severe. The most common complication to PCNL was infection (60%), followed by bleeding (5.4%), reoperation (1.6%) and pain (0.5%). The high prevalence of E. faecalis might need to be considered, however the results should be validated in a larger cohort, possibly with a higher rate of antibiotic resistance, before a change of guidelines regarding prophylactic antibiotics could be proposed. PMID: 32208808 [PubMed - as supplied by publisher]
Source: Scandinavian Journal of Urology - Category: Urology & Nephrology Tags: Scand J Urol Source Type: research
AbstractPurposeTo investigate risk factors for severe bleeding during warfarin treatment, including the influence of sex, age, comorbidity and co-medication on bleeding risk.MethodsPatients initiating warfarin treatment between 2007 and 2011 were identified in the nationwide Swedish Prescribed Drug Register, and diagnoses of severe bleeding were retrieved from the National Patient Register. Hazard ratios (HR) with 95% confidence intervals (CI) for severe bleeding were estimated using multiple Cox regression adjusting for indications and including covariates age, sex, comorbidities and co-medications. Interactions between s...
Source: European Journal of Clinical Pharmacology - Category: Drugs & Pharmacology Source Type: research
Carotid body tumors (CBTs) are rare tumors in the neck. Surgical resection is the gold standard of treatment. Surgical resection may be complicated by bleeding. Pre-operative embolization has recently been introduced for the treatment to reduce the quantity of blood loss; however, the outcomes of this procedure are still under debate. In this article; we have presented the outcomes of patients, who underwent surgical resection for CBT without undergoing pre-operative embolization in our institution.
Source: Annals of Vascular Surgery - Category: Surgery Authors: Tags: Clinical Research, Basic Science Source Type: research
ConclusionBC  007 is demonstrated to be safe and well tolerated. BC 007 neutralisedfGPCR-AAb, showing a trend for a dose-response relationship in elderly healthy butfGPCR-AAb-positive Registration NumberNCT02955420.
Source: Clinical Drug Investigation - Category: Drugs & Pharmacology Source Type: research
Publication date: April 2020Source: Medicina Intensiva (English Edition), Volume 44, Issue 3Author(s): J.I. Chico Carballas, S. Freita Ramos, D. Mosquera Rodriguez, E.M. Menor Fernandez, M. Piñon Esteban, R. Casais Pampin
Source: Medicina Intensiva - Category: Intensive Care Source Type: research
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