Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes.

Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes. Hematology Am Soc Hematol Educ Program. 2017 Dec 08;2017(1):79-87 Authors: West AH, Churpek JE Abstract Patients with inherited bone marrow failure syndromes (IBMFSs) classically present with specific patterns of cytopenias along with congenital anomalies and/or other physical features that are often recognizable early in life. However, increasing application of genomic sequencing and clinical awareness of subtle disease presentations have led to the recognition of IBMFS in pediatric and adult populations more frequently than previously realized, such as those with early onset myelodysplastic syndrome (MDS). Given the well-defined differences in clinical management needs and outcomes for aplastic anemia, acute myeloid leukemia, and MDS in patients with an IBMFS vs those occurring sporadically, as well as nonhematologic comorbidities in patients with IBMFSs, it is critical for hematologists to understand how to approach screening for the currently known IBMFSs. This review presents a practical approach for the clinical hematologist that outlines when to suspect an IBMFS and how to use various diagnostic tools, from physical examination to screening laboratory tests and genomics, for the diagnosis of the most frequent IBMFSs: Fanconi anemia, telomere biology disorders, Diamond-Blackfan anemia, GATA2 deficiency syndrome, Shwachman-Diamond syndrome, and severe congenital n...
Source: Hematology ASH Education Program - Category: Hematology Tags: Hematology Am Soc Hematol Educ Program Source Type: research

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Publication date: Available online 14 October 2019Source: Molecular Aspects of MedicineAuthor(s): Nithya Mudgapalli, Palanisamy Nallasamy, Haritha Chava, Srinivas Chava, Anup S. Pathania, Venugopal Gunda, Santhi Gorantla, Manoj K. Pandey, Subash C. Gupta, Kishore B. ChallagundlaAbstractAcute myeloid leukemia (AML) is caused by abnormal production of white blood cells, red blood cells or platelets. The leukemia cells communicate with their microenvironment through nano-vesicle exosomes that are 30–100 nm in diameter. These nano-vesicles are released from body fluids upon fusion of an endocytic compartment with the c...
Source: Molecular Aspects of Medicine - Category: Molecular Biology Source Type: research
ConclusionMacrophage activation syndrome is a rare entity, rarely reported during primary Sj ögren’s syndrome. Its spontaneous evolution is invariably fatal. There is no consensus on therapeutic treatment. Etoposide is a therapeutic option especially in forms refractory to corticosteroid therapy.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
This study aimed to investigate the expression of these genes, also their correlation with immunophenotypic subtypes of ALL and the percentage of blasts. Real-time PCR was performed for the expression analysis of P53, MDM2, c-MYC, and P14ARF in the bone marrow or peripheral blood samples of 52 ALL patients and 13 normal samples as controls. The morphological analysis and flow cytometry were carried out to examine the phenotypes and percentage of lymphoblasts. The decreased expression levels of P53 and MDM2 were seen in ALL patients compared with control group. In T cell subgroup of ALL the expression of P14ARF gene was mor...
Source: Indian Journal of Hematology and Blood Transfusion - Category: Hematology Source Type: research
ConclusionGISTs most commonly affect the stomach, most tumors are treated by primary surgical excision with normal safety margins, advanced disease may need imatinib before surgery which helps in decreasing the size of the tumor and makes surgery easier.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
The introduction of the drug imatinib in 2001 revolutionized the treatment of a type of cancer called chronic myelogenous leukemia. In more than 80% of people with CML who received the drug, the disease went into complete remission.However, in most people with chronic myelogenous leukemia, cancerous stem cells remain in the body for years after their cancer has gone into remission. If treatment with imatinib or another similar medication is stopped — and in some cases, even while treatment continues — the leukemia stem cells can cause cancer to recur.Now, in experiments in mice as well as isolated human cancer ...
Source: UCLA Newsroom: Health Sciences - Category: Universities & Medical Training Source Type: news
Publication date: November–December 2019Source: Journal of Orthopaedics, Volume 16, Issue 6Author(s): Bhaveen H. Kapadia, Barrett B. Torre, Nicholas Ullman, Andrew Yang, Matthew A. Harb, Preston W. Grieco, Jared M. Newman, Steven F. Harwin, Aditya V. MaheshwariAbstractTotal hip and knee arthroplasties may be associated with a significant amount of perioperative blood loss. The severity of blood loss may be great enough to require the use of blood transfusions to treat perioperative anemia. Various methods of blood preservation have been studied. The use of antifibrinolytics and antifibrinolytic-like agents to reduce ...
Source: Journal of Orthopaedics - Category: Orthopaedics Source Type: research
ConclusionSame-day discharge after vaginal hysterectomy with pelvic floor reconstruction appears to be safe and feasible. Patients who were discharged the same-day did not require a higher volume of emergency department or office evaluations.
Source: Journal of Minimally Invasive Gynecology - Category: OBGYN Source Type: research
Publication date: Available online 14 October 2019Source: IDCasesAuthor(s): Jaineel Ramnarain, Jang Yoon, Naomi RunnegarAbstractStaphylococcus pasteuri is a coagulase negative bacterium which although formally described in 1993, has only recently become possible to reliably speciate in diagnostic microbiology laboratories. S. pasteuri remains an extremely infrequent cause of human infection to date, namely bacteremia in an individual suffering acute myeloid leukemia, catheter-associated urinary tract infection in a patient receiving chemotherapy and endocarditis within a case series without specific clinical information. A...
Source: IDCases - Category: Infectious Diseases Source Type: research
This study is registered with the ISRCTN registry, number ISRCTN49407852, and clinicaltrialsregister.eu, number 2009–010956–93, and has completed recruitment.FindingsBetween Nov 15, 2010, and July 28, 2016, 583 patients were enrolled to the intensification randomisation, representing 48% of the 1217 patients who achieved partial or minimal response after initial induction therapy. 289 patients were assigned to CVD treatment and 294 patients to no treatment. After a median follow-up of 29·7 months (IQR 17·0–43·5), median progression-free survival was 30 months (95% CI 25–36) with...
Source: The Lancet Haematology - Category: Hematology Source Type: research
We present a retrospective analysis of 10 patients that were treated for high risk APL based on the consolidation treatment phase of APL 0406 study without subsequent maintenance. With a median follow up of 38 months, all patients remain in remission.
Source: Hematology Oncology and Stem Cell Therapy - Category: Cancer & Oncology Source Type: research
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