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Myelodysplastic Syndrome Occurring in a Patient with Gorlin Syndrome
We report a case of myelodysplastic syndrome (MDS) occurring in an African American boy with Gorlin syndrome with a novel PTCH1 mutation. Before developing MDS, the patient had been treated with chemotherapy and radiation for a medulloblastoma. He received a bone marrow transplant for the MDS and eventually died of treatment complications. Secondary hematologic malignancies are a known complication of certain chemotherapeutics, although whether a patient with Gorlin syndrome has a greater propensity for the development of such malignancies is unclear.
Source: Pediatric Dermatology - May 30, 2016 Category: Dermatology Authors: Jamie L. Mull, Lisa M. Madden, Susan J. Bayliss Tags: Brief Report Source Type: research

Is a Matched Unrelated Donor Search Needed for All Allogeneic Transplant Candidates?
ConclusionsRace, haplotype frequency and disease status at the time of MUD search influence probability to identify a MUD and receive a transplant. Patients with low likelihood to receive a MUD transplant may proceed to a haploidentical transplant as soon as indicated, as this approach does not appear to compromise transplant outcomes.DisclosuresKonopleva: Stemline Therapeutics: Research Funding. Oran: AROG pharmaceuticals: Research Funding; Celgene: Consultancy, Research Funding; ASTEX: Research Funding. Champlin: Otsuka: Research Funding; Sanofi: Research Funding.
Source: Blood - November 21, 2018 Category: Hematology Authors: Ciurea, S. O., Borges Bittencourt, M. C., Milton, D. R., Cao, K., Kongtim, P., Rondon, G., Chen, J., Konopleva, M. Y., Ramos Perez, J. M., Elshazly, M., Aljadayeh, M., Alvarez, M., Im, J. S., Alatrash, G., Mehta, R. S., Popat, U., Bashir, Q., Oran, B., Ho Tags: 732. Clinical Allogeneic Transplantation: Results: Poster II Source Type: research

The Rome Transplant Network model compared to the Italian Bone Marrow Donor Registry activity for unrelated donor search process and transplant efficiency for hematologic malignancy.
CONCLUSIONS: Both PQ and HR HLA at the start of the process represents a useful tool to address the search towards the best and timely donor choice. Moreover, establishing a specific donor policy significantly improves the transplant efficiency. PMID: 28608367 [PubMed - as supplied by publisher]
Source: Transfusion - June 13, 2017 Category: Hematology Authors: Picardi A, Arcese W, Pollichieni S, Di Piazza F, Mangione I, Gallina AM, Cerretti R, Cudillo L, De Angelis G, Mengarelli A, Dentamaro T, Tirindelli MC, Chierichini A, Ferrari A, Marciano R, Andreani M, Bonifazi F, Sacchi N Tags: Transfusion Source Type: research

Outcome of patients activating an unrelated donor search for severe acquired aplastic anemia
This study analyzes the outcome of ATG‐refractory SAA patients activating a VUD search. Of 179 patients, 68 had at least one HLA‐A, –B and –DR matched donor identified and underwent HSCT while 50 also with a donor were not transplanted because of early death (8), late response to IST (34), transplant refusal (1) or other (7). Conversely, 61 had no matched donor, 13 of those ultimately received a mismatched HSCT. All but one received marrow stem cells. Among patients aged <17 years, those with at least one matched donor had a significant higher 4‐year survival as compared to others (79%+/‐6% versus 53%+/‐10...
Source: American Journal of Hematology - June 27, 2013 Category: Hematology Authors: Sébastien Maury, Marie‐Lorraine Balère‐Appert, Simona Pollichieni, Rosi Oneto, Ibrahim Yakoub‐Agha, Franco Locatelli, Jean‐Hugues Dalle, Edoardo Lanino, Alain Fischer, Andrea Pession, Anne Huynh, Walter Barberi, Mohamad Mohty, Antonio Risitano, Tags: Research Article Source Type: research

Using Haplogictm & Recipient Ancestry: The Likelihood of Identifying an 8/8 HLA-Matched Unrelated Donor Can be Accurately Predicted at the Time of the Preliminary Search Markedly Improving Search Efficiency & Speed to Allograft: An 830 Patient Analysis
Background: As many searches are urgent, a strategy to rapidly& efficiently establish if a suitable unrelated donor (URD) can be identified is needed. The standard URD HLA-match requirement at our center is 8/8 HLA-A,B,C,DRB1 alleles. The National Marrow Donor Program (NMDP) provides a computerized % chance of 8/8& individual locus HLA-match predictions (HapLogic ™) for URDs on the NMDP search based on available HLA-typing& ancestry of the patient (pt)& URD. We hypothesized that the likelihood of an 8/8 URD could be accurately estimated by devising a Search Prognosis Categorization (SPC) based upon the number of potentia...
Source: Biology of Blood and Marrow Transplantation - February 22, 2017 Category: Hematology Authors: Eric Davis, Sean M. Devlin, Candice Cooper, Melissa Nhaissi, Jennifer Paulson, Deborah S. Wells, Andromachi Scaradavou, Sergio A. Giralt, Esperanza B. Papadopoulos, Nancy A. Kernan, Courtney Byam, Juliet N. Barker Source Type: research

Comparison of Search Prognosis Algorithms Demonstrates the Value of HapLogicTM-Based Assessment in Predicting the Likelihood of Identifying 8/8 HLA-Allele Matched Unrelated Donors (URD) & Receiving an 8/8 URD Transplant
Using preliminary search National Marrow Donor Program (NMDP) HapLogic ™ predictions, we have developed a search prognosis algorithm that accurately predicts the likelihood of patients having an 8/8 HLA-matched URD (Davis et al, BBMT 2018). An alternative approach is to categorize search prognosis by patient HLA genotype frequency& ancestry (Wadsworth et al, BMT 2016). We compared these search prognosis assessment methods.
Source: Biology of Blood and Marrow Transplantation - January 24, 2020 Category: Hematology Authors: Eric Davis, Sean M. Devlin, Candice Cooper, Melissa Nhaissi, Deborah S. Wells, Sergio A. Giralt, Esperanza B. Papadopoulos, Ioannis Politikos, Juliet N. Barker Tags: 451 Source Type: research

Influence of the HLA characteristics of Italian patients on donor search outcome in unrelated hematopoietic stem cell transplantation
In this study, we retrospectively analyzed 315 Italian patients who started a search for a MUD, in order to assess the distribution of human leukocyte antigen (HLA) alleles and haplotypes in this population of patients and to evaluate the probability of finding a donor. Comparing two groups of patients based on whether or not a 10/10 HLA‐matched donor was available, we found that patients who had a fully‐matched MUD possessed at least one frequent haplotype more often than the others (45.6% vs 14.3%; P = 0.000003). In addition, analysis of data pertaining to the HLA class I alleles distribution showed that, in the ...
Source: Tissue Antigens - April 18, 2014 Category: Allergy & Immunology Authors: M. Testi, M. Andreani, F. Locatelli, W. Arcese, M. Troiano, M. Battarra, J. Gaziev, G. Lucarelli Tags: Original article Source Type: research

High-performance information search filters for acute kidney injury content in PubMed, Ovid Medline and Embase
Conclusions PubMed, Ovid Medline and Embase can be filtered for articles relevant to AKI in a reliable manner. These high-performance information filters are now available online and can be used to better identify AKI content in large bibliographic databases.
Source: Nephrology Dialysis Transplantation - March 27, 2014 Category: Urology & Nephrology Authors: Hildebrand, A. M., Iansavichus, A. V., Haynes, R. B., Wilczynski, N. L., Mehta, R. L., Parikh, C. R., Garg, A. X. Tags: Acute Kidney Injury Source Type: research

A novel tool for the identification of correlations in medical data by faceted search
We describe the details of the use case of transplant medicine and the resulting technical architecture of the faceted search application.
Source: Computers in Biology and Medicine - April 14, 2017 Category: Bioinformatics Authors: Danilo Schmidt, Oliver Staeck, Klemens Budde, Daniel Sonntag, Hans-J ürgen Profitlich, Matthias Ihle Source Type: research

Validation of an Algorithm to Predict the Likelihood of an 8/8 HLA-Matched Unrelated Donor at Search Initiation
• HapLogic™ provides reliable 8/8 and individual locus HLA-match predictions for unrelated donors (URDs).• A novel Search Prognosis patient categorization can accurately predict 8/8 HLA-matched URD likelihood at search initiation.• Rapid recognition of poor, very poor or futile searches can facilitate immediate pursuit of alternative graft sources.
Source: Biology of Blood and Marrow Transplantation - December 26, 2017 Category: Hematology Authors: Eric Davis, Sean Devlin, Candice Cooper, Melissa Nhaissi, Jennifer Paulson, Deborah Wells, Andromachi Scaradavou, Sergio Giralt, Esperanza Papadopoulos, Nancy A. Kernan, Courtney Byam, Juliet N. Barker Source Type: research

Outcomes of strategic alternative donor selection or suspending donor search based on Japan Marrow Donor Program coordination status.
Abstract In allogeneic hematopoietic stem cell transplantation (allo-HSCT) from unrelated donors, delays in donor search are adversely associated with patient outcome. However, the optimal duration for either waiting for an unrelated donor or selecting alternative sources remains undetermined. Using data from the Japan Marrow Donor Program (JMDP) registry, we retrospectively analyzed 349 adult patients who had searched for unrelated donors. Two hundred and three patients received allo-HSCT from JMDP donors (Group A) with a median of 140 days required to identify a donor, 60 received allo-HSCT from alternative sou...
Source: International Journal of Hematology - January 27, 2018 Category: Hematology Authors: Kawashima N, Nishiwaki S, Shimizu N, Kamoshita S, Watakabe K, Yokohata E, Kurahashi S, Ozawa Y, Miyamura K Tags: Int J Hematol Source Type: research

Improved accuracy of clinical HLA genotyping by next-generation DNA sequencing affects unrelated donor search results for hematopoietic stem cell transplantation.
Abstract Matching of human leukocyte antigen (HLA) genes is critically important in hematopoietic stem cell transplantation (HSCT). HLA genes are highly polymorphic and HLA matching has historically been limited by technologies that are unable to unambiguously determine HLA genotypes. Next generation DNA sequencing (NGS) overcomes these limitations by enabling near full-gene sequences with phase determination for heterozygous alleles. Here we examine the efficacy and utility of HLA-NGS in the clinical setting. In a 54-sample validation study and 955 patient samples subsequently tested using HLA-NGS, we observed si...
Source: Human Immunology - October 11, 2018 Category: Allergy & Immunology Authors: Allen ES, Yang B, Garrett J, Ball ED, Maiers M, Morris GP Tags: Hum Immunol Source Type: research

What Defines an Urgent Time to Transplant (TtT)? a National Marrow Donor Program (NMDP) Survey of Transplant Physicians and Search Coordinators ’ Unrelated Donor Selection Practices
Unrelated donor search and selection practices by hematopoietic cell transplant (HCT) physicians and search coordinators are not standardized across centers, and what defines urgent TtT is not well understood.
Source: Biology of Blood and Marrow Transplantation - January 31, 2019 Category: Hematology Authors: Joseph A. Pidala, Tatenda G Mupfudze, Tammy Payton, Juliet N. Barker, Miguel-Angel Perales, Bronwen E. Shaw, Marcelo Fern ández-Viña, Linda J. Burns, Jason Dehn Tags: 45 Source Type: research

In search of the pivot point of mechanotransduction: Mechanosensing of stem cells.
This article mainly focuses on the mechanosensing, which is the upstream event of stem cell mechanotransduction and the downstream one of physical stimuli. Putative mechanosensors such as ion channels, integrins, cell membrane, as well as primary cilia are discussed. Since mechanical environment is an important stem cell niche, identification of mechanosensors can not only elucidate the mechanisms of mechanotransduction and fate commitments, but also bring new prospects of the mechanical control as well as drug development for clinical application. PMID: 23294564 [PubMed - as supplied by publisher]
Source: Cell Transplantation - January 2, 2013 Category: Cytology Authors: Liu YS, Lee OK Tags: Cell Transplant Source Type: research

Fibrinogen: A Circulating Factor in Search for Its Genetic Architecture.
Abstract Fibrinogen (Coagulation factor I) is a major player in thrombus formation; it is cleaved by thrombin to form fibrin, which is the most abundant component of a blood clot(1). Beyond the role played in the coagulation and cardiovascular diseases (CVD), fibrinogen is a proinflammatory factor in autoimmune and inflammatory diseases (such as rheumatoid arthritis, vasculitides, inflammatory bowel disease, multiple sclerosis, chronic obstructive pulmonary diseases and kidney disorders and post-transplant-fibrosis)(2) as well as in several types of cancer(3). Fibrinogen has been demonstrated to interfere with the...
Source: Circulation - August 22, 2013 Category: Cardiology Authors: Arbustini E, Narula N, D'Armini AM Tags: Circulation Source Type: research