Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia

We describe two brothers who were diagnosed with hematological malignancies (one with AML and the other with T-cell lymphoblastic lymphoma). There was a history of leukemia in the paternal family and two of their siblings presented with low platelet counts and no history of significant bleeding. A microdeletion encompassing exons 1–2 of RUNX1 (outside the cluster region of the Runt Homology domain and the transactivation domain) was detected in six family members using array-CGH and MLPA validation. A low platelet count was not present in all deletion carriers and, therefore, it should not be used as an indication for screening in suspected families and family members.
Source: Cancer Genetics - Category: Cancer & Oncology Source Type: research

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CONCLUSIONS: This study demonstrated the increased risk of skin cancer in transplant patients during the first 7 years of follow-up and made the dermatologists aware about the need of a regular cutaneous follow up for this subset of patients. PMID: 30229636 [PubMed - as supplied by publisher]
Source: Giornale Italiano di Dermatologia e Venereologia - Category: Dermatology Tags: G Ital Dermatol Venereol Source Type: research
Authors: Day D, Burgess CM, Kircik LH Abstract BACKGROUND: Melatonin is an endogenous hormone commonly associated with regulation of sleep. However, over the last two decades, research has elucidated a range of effects associated with the compound, including anti-inflammatory, both direct and indirect antioxidant activity, tissue regenerative benefits, and preservation of mitochondrial function. Melatonin's anti-inflammatory and antioxidant support, coupled with its mitochondrial support, make it an intriguing target for use to support skin health. Human skin and hair follicles express functional melatonin receptor...
Source: Journal of Drugs in Dermatology - Category: Dermatology Tags: J Drugs Dermatol Source Type: research
Publication date: Available online 20 September 2018Source: Journal of Biomedical InformaticsAuthor(s): Alex Graudenzi, Davide Maspero, Marzia Di Filippo, Marco Gnugnolo, Claudio Isella, Giancarlo Mauri, Enzo Medico, Marco Antoniotti, Chiara DamaniAbstractEffective stratification of cancer patients on the basis of their molecular make-up is a key open challenge. Given the altered and heterogenous nature of cancer metabolism, we here propose to use the overall expression of central carbon metabolism as biomarker to characterize groups of patients with important characteristics, such as response to ad-hoc therapeutic strateg...
Source: Journal of Biomedical Informatics - Category: Information Technology Source Type: research
Publication date: Available online 21 September 2018Source: The Lancet HIVAuthor(s): Silvia Franceschi
Source: The Lancet HIV - Category: Infectious Diseases Source Type: research
Publication date: Available online 21 September 2018Source: The Lancet HIVAuthor(s): Nancy A Hessol, Hannah Whittemore, Eric Vittinghoff, Ling C Hsu, Danning Ma, Susan Scheer, Sandra K SchwarczSummaryBackgroundCancer survivors are at increased risk for subsequent primary cancers. People living with HIV are at increased risk for AIDS-defining and non-AIDS-defining cancers, but little is known about their risk of first versus second primary cancers. We identified first and second primary cancers that occurred in above population expected numbers among people diagnosed with HIV in San Francisco, and compared first and second ...
Source: The Lancet HIV - Category: Infectious Diseases Source Type: research
Publication date: Available online 19 September 2018Source: Microbial PathogenesisAuthor(s): Govindan Rajivgandhi, Thillaichidambaram Muneeswaran, Muthuchamy Maruthupandy, Kandasamy Saravanan, Vilwanathan Ravikumar, Natesan ManoharanAbstractThe current study aimed to identify bioactive compound from marine endophytic actinomycetes isolated from Gulf of Mannar, southeast coast of India. Among the isolated actinomycetes, strain GRG 4 exhibited excellent ability to inhibit colistin resistant (CR) Pseudomonas aeruginosa and Klebsiella pneumonia, which emerging threat to the world. The strain was identified as Streptomyces coer...
Source: Microbial Pathogenesis - Category: Infectious Diseases Source Type: research
ConclusionsThis study has elucidated the genome-wide effects of several adaptogenic herbal extracts in brain cells culture. These data highlight the consistent activation of ASRSPs by adaptogens in T98G neuroglia cells. The extracts affected many genes playing key roles in modulation of adaptive homeostasis, indicating their ability to modify gene expression to prevent stress-induced and aging-related disorders. Overall, this study provides a comprehensive look at the molecular mechanisms by which adaptogens exerts stress-protective effects.Graphycal abstract
Source: Phytomedicine - Category: Drugs & Pharmacology Source Type: research
ConclusionThis is the first study demonstrating efficacy of DLA and mechanistic differences of DLAe vs. AS, against NSCLC cells. Compared to AS, DLA possesses qualities of a novel therapeutic for patients with NSCLC.Graphical abstract
Source: Phytomedicine - Category: Drugs & Pharmacology Source Type: research
Publication date: Available online 20 September 2018Source: Revista Portuguesa de Cardiologia (English Edition)Author(s): Liliana Reis, Luís Paiva, Marco Costa, Joana Silva, Rogério Teixeira, Ana Botelho, Paulo Dinis, Marta Madeira, Joana Ribeiro, José Nascimento, Lino GonçalvesAbstractIntroductionPercutaneous closure of the left atrial appendage (LAA) is a promising therapy in patients with atrial fibrillation with high risk for stroke and contraindication for oral anticoagulation (OAC). Intracardiac echocardiography (ICE) may make this percutaneous procedure feasible in patients in whom transe...
Source: Revista Portuguesa de Cardiologia - Category: Cardiology Source Type: research
Mihnea Dragomir, George A. Calin
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
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