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https://www.readbyqxmd.com/read/28944135/management-of-syndromic-diarrhea-tricho-hepato-enteric-syndrome-a-review-of-the-literature
#1
REVIEW
Alexandre Fabre, Patrice Bourgeois, Marie-Edith Coste, Céline Roman, Vincent Barlogis, Catherine Badens
Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare disease linked to the loss of function of either TTC37 or SKIV2L, two components of the SKI complex. It is characterized by a combination of 9 signs (intractable diarrhea, hair abnormalities, facial dysmorphism, immune abnormalities, IUGR/SGA, liver abnormalities, skin abnormalities, congenital heart defect and platelet abnormalities). We present a comprehensive review of the management of SD/THE and tested therapeutic regimens. A review of the literature was conducted in May 2017: 29 articles and 2 abstracts were included describing a total of 80 patients, of which 40 presented with mutations of TTC37, 14 of SKIV2L...
August 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28943549/extramedullary-gastric-relapse-at-the-time-of-bone-marrow-relapse-of-acute-lymphoblastic-leukemia-after-allogeneic-bone-marrow-transplantation
#2
Kazuhiko Ikeuchi, Noriko Doki, Akinari Takao, Tsunekazu Hishima, Yuta Yamada, Tatsuya Konishi, Akihito Nagata, Toshiaki Takezaki, Satoshi Kaito, Shuhei Kurosawa, Masahiro Sakaguchi, Kaito Harada, Shunichiro Yasuda, Kosuke Yoshioka, Kyoko Watakabe-Inamoto, Aiko Igarashi, Yuho Najima, Hideharu Muto, Takeshi Kobayashi, Kazuhiko Kakihana, Hisashi Sakamaki, Kazuteru Ohashi
Extramedullary relapse (EMR) after allogeneic hematopoietic stem cell transplantation (allo-HSCT) is relatively rare. The most commonly reported sites in acute lymphoblastic leukemia (ALL) patients after allo-HSCT are soft tissue and the central nervous system, and the gastrointestinal system is an uncommon site. We herein report a unique case with massive hematemesis resulting from gastrointestinal relapse of ALL after allo-HSCT. Upper gastrointestinal endoscopy showed bleeding from a 1.5-cm submucosal tumorous lesion with central ulceration on the anterior wall of the stomach...
September 25, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28943319/clotting-protein-an-extracellular-matrix-ecm-protein-involved-in-crustacean-hematopoiesis
#3
Kingkamon Junkunlo, Kenneth Söderhäll, Irene Söderhäll
Hematopoietic progenitor cells in crustaceans are organized in lobule-like structures surrounded by different types of cells and extracellular matrix (ECM) protein in a Hematopoietic tissue (HPT). Here we show that the clotting protein (CP) is part of the ECM in HPT and is secreted during HPT cell culture. The formation of a filamentous network of CP was observed in HPT cell culture. A high amount of CP protein was detected at the surfaces of undifferentiated cells (round-shaped) compared with migrating cells (spindle shaped)...
September 21, 2017: Developmental and Comparative Immunology
https://www.readbyqxmd.com/read/28943295/the-slippery-slope-of-hematopoietic-stem-cell-aging
#4
Martin Wahlestedt, David Bryder
The late stages of life are in most species, including humans, associated with a decline in overall organism maintenance/health. This applies also to the hematopoietic system, where aging associates not only to an increased predisposition for hematological malignancies, but also as a strong comorbidity factor for other diseases. Research during the last two decades have proposed that alterations at the level of hematopoietic stem cells (HSCs) might be a root cause for the hematological changes observed with age...
September 21, 2017: Experimental Hematology
https://www.readbyqxmd.com/read/28943250/in%C3%A2-vivo-generation-of-engraftable-murine-hematopoietic-stem-cells-by-gfi1b-c-fos-and-gata2-overexpression-within-teratoma
#5
Masao Tsukada, Yasunori Ota, Adam C Wilkinson, Hans J Becker, Motomi Osato, Hiromitsu Nakauchi, Satoshi Yamazaki
Generation of hematopoietic stem cells (HSCs) from pluripotent stem cells (PSCs) could potentially provide unlimited HSCs for clinical transplantation, a curative treatment for numerous blood diseases. However, to date, bona fide HSC generation has been largely unsuccessful in vitro. We have previously described proof of concept for in vivo HSC generation from PSCs via teratoma formation. However, our first-generation system was complex and the output low. Here, we further optimize this technology and demonstrate the following: (1) simplified HSC generation using transcription factor overexpression; (2) improved HSC output using c-Kit-deficient host mice, and (3) that teratomas can be transplanted and cryopreserved...
September 8, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28941241/recent-progress-of-national-banking-project-on-homozygous-hla-typed-induced-pluripotent-stem-cells-in-south-korea
#6
Yeri Alice Rim, Narae Park, Yoojun Nam, Dong-Sik Ham, Ji-Won Kim, Hye-Yeong Ha, Ji-Won Jung, Seung Min Jung, In Cheol Baek, Su-Yeon Kim, Tai-Gyu Kim, Jihwan Song, Jennifer Lee, Sung-Hwan Park, Nak-Gyun Chung, Kun-Ho Yoon, Ji Hyeon Ju
Induced pluripotent stem cells (iPSCs) can be generated by introducing several factors into mature somatic cells. Banking of iPSCs can lead to wider application for treatment and research. In an economical view, it is important to store cells that can cover a high percentage of the population. Therefore, the use of homozygous human leukocyte antigen-iPSCs (HLA-iPSCs) is thought as a potential candidate for effective iPSC banking system for further clinical use. We screened the database stored in the Catholic Hematopoietic Stem Cell Bank of Korea and sorted the most frequent homozygous HLA types of the South Korean population...
September 23, 2017: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/28941161/from-clinical-observations-and-molecular-dissection-to-novel-therapeutic-strategies-for-primary-immunodeficiency-disorders
#7
REVIEW
Hans D Ochs, Daniel Petroni
The field of primary immunodeficiency diseases (PID) is rapidly expanding with more than 300 genetically defined disorders that have been clinically described and molecularly analyzed. The molecular dissection of these entities has led to the discovery of new immunologic pathways and to novel and effective disease-specific therapies. This review provides a summary of these primary immune defects categorized by clinical phenotype and molecular similarity as defined by the International Union of Immunologic Societies (IUIS) Expert Committee for PID...
September 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28940837/a-case-of-the-nephrotic-syndrome-in-bone-marrow-transplantation-recipient-histologically-showing-overlapped-glomerular-lesions-of-thrombotic-microangiopathy-and-membranous-nephropathy
#8
Naoko Masuzawa, Ayako Nishimura, Takashi Kitani, Keiichi Tamagaki, Mio Sugitani, Hisao Nagoshi, Junya Kuroda, Eiichi Konishi
Nephrotic syndrome (NS) rarely occurs in post-hematopoietic stem cell transplantation (HSCT) recipients but represents the renal manifestation of graft-versus-host disease (GVHD). Membranous nephropathy (MN) accounts for almost two thirds of post-HSCT NS and is caused by immune complex deposition. Renal thrombotic microangiopathy (TMA) without fulfillment of clinical criteria for TMA has been underreported because of reduced opportunity for histological examination. However, renal TMA has recently been reported in association with GVHD and humoral immunological reactions...
September 20, 2017: Pathology International
https://www.readbyqxmd.com/read/28939926/a-systematic-literature-review-of-the-efficacy-effectiveness-and-safety-of-filgrastim
#9
REVIEW
David C Dale, Jeffrey Crawford, Zandra Klippel, Maureen Reiner, Timothy Osslund, Ellen Fan, Phuong Khanh Morrow, Kim Allcott, Gary H Lyman
PURPOSE: Filgrastim (NEUPOGEN(®)) is the originator recombinant human granulocyte colony-stimulating factor widely used for preventing neutropenia-related infections and mobilizing hematopoietic stem cells. This report presents findings of a systematic literature review and meta-analysis of efficacy and safety of originator filgrastim to update previous reports. METHODS: A literature search of electronic databases, congress abstracts, and bibliographies of recent reviews was conducted to identify English-language reports of clinical trials and observational studies evaluating filgrastim in its US-approved indications up to February 2015...
September 22, 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28939557/a-chemical-modulator-of-p53-transactivation-that-acts-as-a-radioprotective-agonist
#10
Akinori Morita, Ippei Takahashi, Megumi Sasatani, Shin Aoki, Bing Wang, Shinya Ariyasu, Kaoru Tanaka, Tetsuji Yamaguchi, Akiko Sawa, Yurie Nishi, Tatsuro Teraoka, Shohei Ujita, Yosuke Kawate, Chihiro Yanagawa, Keiji Tanimoto, Atsushi Enomoto, Mitsuru Nenoi, Kenji Kamiya, Yasushi Nagata, Yoshio Hosoi, Toshiya Inaba
Inhibiting p53-dependent apoptosis by inhibitors of p53 is an effective strategy for preventing radiation-induced damage in hematopoietic lineages, while p53 and p21 also play radioprotective roles in the gastrointestinal epithelium. We previously identified some zinc(II) chelators, including 8-quinolinol derivatives that suppress apoptosis in attempts to discover compounds that target the zinc-binding site in p53. We found that 5-chloro-8-quinolinol (5CHQ) has a unique p53-modulating activity that shifts its transactivation from proapoptotic to protective responses including enhancing p21 induction and suppressing PUMA induction...
September 22, 2017: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/28939456/combination-of-high-dose-methylprednisolone-and-defibrotide-for-veno-occlusive-disease-in-pediatric-hematopoietic-stem-cell-transplant-recipients
#11
Nicholas J Gloude, Sonata Jodele, Ashley Teusink-Cross, Michael Grimley, Stella M Davies, Adam Lane, Kasiani C Myers
Veno-occlusive disease (VOD) is a serious complication of hematopoietic stem cell transplant (HSCT), with high mortality in severe cases, and until recently very limited therapeutic options, consisting largely of supportive care. Defibrotide was recently approved in the United States for the treatment of severe VOD in patients with renal or pulmonary dysfunction following HSCT. Our group previously published on the use of high-dose methylprednisolone (500 mg/m(2)/dose every 12 hours for 6 doses) in patients with VOD showing good success...
September 19, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28939453/bone-marrow-wt1-levels-in-allogeneic-hematopoietic-stem-cell-transplant-hct-for-acute-myeloid-leukemia-and-myelodysplasia-clinically-relevant-time-points-and-100-copies-threshold-value
#12
Josep F Nomdedéu, Albert Esquirol, Maite Carricondo, Marta Pratcorona, Montserrat Hoyos, Ana Garrido, Miguel Rubio, Elena Bussaglia, Irene García-Cadenas, Camino Estivill, Salut Brunet, Rodrigo Martino, Jorge Sierra
The outcome of allogeneic hematopoietic stem cell transplant (HCT) in patients with myeloid malignancies is better in those without minimal residual disease (MRD) than in those with MRD+ as assessed by multiparametric flow cytometry (MPFC). WT1 quantitation has also been used to assess the probability of relapse in acute myeloid leukemia treated with chemotherapy. We analyzed the clinical value of normalized bone marrow WT1 levels as a measure of the expanded myeloid progenitor compartment in a consecutive series of 193 adult patients with myeloid malignancies who underwent HCT...
September 19, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28939421/theaflavin-ameliorates-ionizing-radiation-induced-hematopoietic-injury-via-the-nrf2-pathway
#13
Xiaodan Han, Junling Zhang, Xiaolei Xue, Yu Zhao, Lu Lu, Ming Cui, Weimin Miao, Saijun Fan
It has been well established that reactive oxygen species (ROS) play a critical role in ionizing radiation (IR)-induced hematopoietic injury. Theaflavin (TF), a polyphenolic compound from black tea, has been implicated in the regulation of endogenous cellular antioxidant systems. However, it remains unclear whether TF could ameliorate IR-induced hematopoietic injury, particularly the hematopoietic stem cell (HSC) injury. In this study, we explored the potential role of TF in IR-induced HSC injury and the underlying mechanism in a total body irradiation (TBI) mouse model...
September 19, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28939416/the-gnas-r201c-mutation-associated-with-clonal-hematopoiesis-supports-transplantable-hematopoietic-stem-cell-activity
#14
Elizabeth L Ostrander, Won Kyun Koh, Cates Mallaney, Ashley C Kramer, W Casey Wilson, Bo Zhang, Grant A Challen
Genome sequencing efforts have identified virtually all of the important mutations in adult myeloid malignancies. More recently, population studies have identified cancer-associated variants in the blood of otherwise healthy individuals as they age, a phenomenon termed clonal hematopoiesis of indeterminate potential (CHIP). This suggests these mutations may occur in HSCs long before any clinical presentation, but are not necessarily harbingers of transformation as only a fraction of individuals with CHIP develop hematopoietic pathologies...
September 19, 2017: Experimental Hematology
https://www.readbyqxmd.com/read/28938875/predictive-implications-of-albumin-and-c-reactive-protein-for-progression-to-pneumonia-and-poor-prognosis-in-stenotrophomonas-maltophilia-bacteremia-following-allogeneic-hematopoietic-stem-cell-transplantation
#15
Kaito Harada, Noritaka Sekiya, Tatsuya Konishi, Akihito Nagata, Yuta Yamada, Toshiaki Takezaki, Satoshi Kaito, Shuhei Kurosawa, Masahiro Sakaguchi, Shunichiro Yasuda, Shugo Sasaki, Kosuke Yoshioka, Kyoko Watakabe-Inamoto, Aiko Igarashi, Yuho Najima, Takeshi Hagino, Hideharu Muto, Takeshi Kobayashi, Noriko Doki, Kazuhiko Kakihana, Hisashi Sakamaki, Kazuteru Ohashi
BACKGROUND: Stenotrophomonas maltophilia (S. maltophilia) bacteremia causes significant morbidity and mortality in immunocompromised hosts. However, incidence and risk factors for mortality in S. maltophilia bacteremia following allogeneic hematopoietic stem cell transplantation (allo-HSCT) remain controversial. The primary aim of this study is to clarify factors associated with poor prognosis of allo-HSCT recipients with S. maltophilia bacteremia. METHODS: From January 2005 to December 2014, patients with hematological diseases and S...
September 22, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28938702/correction-endothelial-microparticles-delivering-microrna-155-into-t-lymphocytes-are-involved-in-the-initiation-of-acute-graft-versus-host-disease-following-allogeneic-hematopoietic-stem-cell-transplantation
#16
Ran Zhang, Xiaoxiao Wang, Mei Hong, Ting Luo, Miaomiao Zhao, Haorui Shen, Jun Fang, Xiaojie Li, Sibin Zang, Ping Chen, Dimin Nie, Peng Zheng, Qiuling Wu, Linghui Xia
[This corrects the article DOI: 10.18632/oncotarget.15579.].
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28937794/nutritional-status-of-hematological-patients-before-hematopoietic-stem-cell-transplantation-and-in-early-posttransplantation-period
#17
Joanna Krawczyk, Leszek Kraj, Teresa Korta, Wiesław Wiktor-Jędrzejczak
Hematopoietic stem cell transplantation (HSCT) is an aggressive method of treatment affecting patient's homeostasis. The aim of the study was to evaluate the initial nutritional status of HSCT patients and nutritional status in early posttransplantation period. The prospective study included 100 consecutive patients with hematological malignancies subjected to HSCT. The nutritional status evaluation was made using the nutritional screening scales, anthropometric and biochemical parameters, as well. On the day +7 following HSCT significant decrease in concentration of total protein (5...
September 22, 2017: Nutrition and Cancer
https://www.readbyqxmd.com/read/28936743/therapeutic-potential-of-hematopoietic-stem-cell-derived-exosomes-in-cardiovascular-disease
#18
Jana Radosinska, Monika Bartekova
As other stem cells, hematopoietic stem cells (HSCs) are able to produce extracellular vesicles (EVs) including exosomes and microvesicles. This chapter summarizes the knowledge about the production of EVs by the HSCs, their role in the intercellular communication, and will discuss the cargo of these EVs as well as protective effects of HSCs-derived exosomes and microvesicles in cardiovascular diseases (CVD). Available data showed that cardioprotective action of injected HSCs could not be explained by direct transdifferentiationof injected cells into the cardiomyocytes, this effect is suggested to be mediated via paracrine communication (by EVs) between donor and recipient cells...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28936210/novel-mutations-of-the-tetratricopeptide-repeat-domain-7a-gene-and-phenotype-genotype-comparison
#19
Reyin Lien, Yung-Feng Lin, Min-Wei Lai, Hui-Ying Weng, Ren-Chin Wu, Tang-Her Jaing, Jing-Long Huang, Shih-Feng Tsai, Wen-I Lee
The gastrointestinal tract contains the largest lymphoid organ to react with pathogenic microorganisms and suppress excess inflammation. Patients with primary immunodeficiency diseases (PIDs) can suffer from refractory diarrhea. In this study, we present two siblings who began to suffer from refractory diarrhea with a poor response to aggressive antibiotic and immunosuppressive treatment after surgical release of neonatal intestinal obstruction. Their lymphocyte proliferation was low, but superoxide production and IL-10 signaling were normal...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28935977/zebrafish-in-vivo-screening-for-compounds-amplifying-hematopoietic-stem-and-progenitor-cells-preclinical-validation-in-human-cd34-stem-and-progenitor-cells
#20
Guruchandar Arulmozhivarman, Martin Kräter, Manja Wobus, Jens Friedrichs, Elham Pishali Bejestani, Katrin Müller, Katrin Lambert, Dimitra Alexopoulou, Andreas Dahl, Martin Stöter, Marc Bickle, Nona Shayegi, Jochen Hampe, Friedrich Stölzel, Michael Brand, Malte von Bonin, Martin Bornhäuser
The identification of small molecules that either increase the number and/or enhance the activity of human hematopoietic stem and progenitor cells (hHSPCs) during ex vivo expansion remains challenging. We used an unbiased in vivo chemical screen in a transgenic (c-myb:EGFP) zebrafish embryo model and identified histone deacetylase inhibitors (HDACIs), particularly valproic acid (VPA), as significant enhancers of the number of phenotypic HSPCs, both in vivo and during ex vivo expansion. The long-term functionality of these expanded hHSPCs was verified in a xenotransplantation model with NSG mice...
September 21, 2017: Scientific Reports
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