Recent advances in inherited platelet disorders

Purpose of review The increasing use of high throughput sequencing and genomic analysis has facilitated the discovery of new causes of inherited platelet disorders. Studies of these disorders and their respective mouse models have been central to understanding their biology, and also in revealing new aspects of platelet function and production. This review covers recent contributions to the identification of genes, proteins and variants associated with inherited platelet defects, and highlights how these studies have provided insights into platelet development and function. Recent findings Novel genes recently implicated in human platelet dysfunction include the galactose metabolism enzyme UDP-galactose-4-epimerase in macrothrombocytopenia, and erythropoietin-producing hepatoma-amplified sequence receptor transmembrane tyrosine kinase EPHB2 in a severe bleeding disorder with deficiencies in platelet agonist response and granule secretion. Recent studies of disease-associated variants established or clarified roles in platelet function and/or production for the membrane receptor G6b-B, the FYN-binding protein FYB1/ADAP, the RAS guanyl-releasing protein RASGRP2/CalDAG-GEFI and the receptor-like protein tyrosine phosphatase PTPRJ/CD148. Studies of genes associated with platelet disorders advanced understanding of the cellular roles of neurobeachin-like 2, as well as several genes influenced by the transcription regulator RUNT-related transcription factor 1 (RUNX1), includin...
Source: Current Opinion in Hematology - Category: Hematology Tags: HEMOSTASIS AND THROMBOSIS: Edited by Alvin H. Schmaier Source Type: research

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CONCLUSION: Living-donor LT in BCS with IVC thrombosis is feasible using a meticulous surgical technique and tailored strategies. PMID: 33584994 [PubMed]
Source: World Journal of Hepatology - Category: Gastroenterology Tags: World J Hepatol Source Type: research
Conclusions: Digestive cancer-associated SVTs constitute 10% of all SVT related hospitalizations and are significantly increasing in the past decade. We report the baseline characteristics and predictors of inpatient mortality in this study.Gastrointest Tumors
Source: Gastrointestinal Tumors - Category: Gastroenterology Source Type: research
β-blockers in advanced cirrhosis: more friend than enemy. Clin Mol Hepatol. 2020 Dec 03;: Authors: Yoon KT, Liu H, Lee SS Abstract Nonselective beta-adrenergic blocker (NSBB) therapy for the prevention of initial and recurrent gastrointestinal bleeding in cirrhotic patients with gastroesophageal varices have been used for the past four decades. They are considered the treatment cornerstone for varices and have become the standard of care. However, a 2010 study from the group that pioneered β-blocker therapy suggested a detrimental effect of NSBBs in decompensated cirrhosis, especially in pati...
Source: Clinical and molecular hepatology - Category: Gastroenterology Tags: Clin Mol Hepatol Source Type: research
Systemic treatment of hepatocellular carcinoma (HCC) has seen significant progress in recent years including the arrival of immunotherapy. While several large phase III trials have built the fundament for multi-line treatment, they have focused on a highly selected group of patients excluding potentially confounding comorbidities. As a result, high quality evidence for the systemic treatment of HCC patients with various comorbidities is missing. This review summarises the current knowledge on the use of currently approved medicines in patients with solid organ transplantation, human immunodeficiency virus, autoimmune disea...
Source: Journal of Hepatology - Category: Gastroenterology Authors: Tags: Review Source Type: research
rauner Matthias Pinter VEGF(R)-targeted therapies are associated with an increased risk of thromboembolism and bleeding, which might be pronounced in patients with increased cardiovascular risk. Nevertheless, sorafenib represents an important treatment option in patients with hepatocellular carcinoma (HCC). We retrospectively investigated the risk of arterial/venous thromboembolic and bleeding events in 252 patients treated with sorafenib for HCC between 05/2006 and 03/2020 at the Medical University of Vienna. Cardiovascular risk was assessed using Framingham score. Eight patients (3.2%) experienced 11 arterial/venou...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
Authors: Midorikawa Y, Takayama T, Higaki T, Aramaki O, Teramoto K, Yoshida N, Mitsuka Y, Tsuji S Abstract Multiplicity is one of the characteristics of hepatocellular carcinoma (HCC), and patients with multiple HCC (≤ 3 nodules) are recommended as candidates for liver resection. To confirm the validity of resecting multiple HCC, we compared the surgical outcomes in patients with synchronous and metachronous multiple HCC. Patients who underwent resection for multiple HCC (2 or 3 nodules) were classified into the "synchronous multiple HCC" group, while those undergoing resection for solitary HCC and rep...
Source: BioScience Trends - Category: Biomedical Science Tags: Biosci Trends Source Type: research
Liver cirrhosis is characterized by complex coagulation abnormalities with alterations of both pro- and anticoagulant factors – which, according to current knowledge, leads to a balanced overall situation [1]. Disturbances of this balance lead to either bleeding or thrombosis. Recent studies have shown that patients with liver cirrhosis have a substantially increased risk of deep vein thrombosis and pulmonary embolism (P E), and this is independent of international normalized ratio (INR) or platelet count [2].
Source: Thrombosis Research - Category: Hematology Authors: Tags: Letter to the Editors-in-Chief Source Type: research
CONCLUSIONS: PVS-125I-TACE-S is safe for patients with HCC with PVTT and may extend the TTP and survival of patients with Vp4 PVTT. ADVANCES IN KNOWLEDGE: PVS implantation promptly restored flow in the obstructed portal vein, which can reduce the risk of hepatic failure and upper gastrointestinal bleeding. Implantation of iodine-125 seed-strips may directly expose the portal tumor thrombus to radiation and kill cancer cells. Their combined use with TACE-S has a strong scientific rationale. PMID: 32464068 [PubMed - as supplied by publisher]
Source: The British Journal of Radiology - Category: Radiology Authors: Tags: Br J Radiol Source Type: research
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Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
ConclusionBiliary drainage is one of the key points for successful treatment of icteric-type HCC patients. A staged approach with initial tumor thrombectomy followed by hepatectomy should be considered as one of the options for icteric-type HCC.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
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