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Pediatr Blood Cancer 2020 Aug 11:e28652. Epub 2020 Aug 11.

Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Background: Myelodysplastic syndromes (MDS) represent a group of clonal hematopoietic stem cell disorders that commonly progress to acute myeloid leukemia (AML). The diagnostics, prognostics, and treatment of adult MDS are established but do not directly translate to children and adolescents. Pediatric MDS is a rare disease, characterized by unique cytogenetics and histology compared with adult MDS, and often arises secondary to germline predisposition or cytotoxic exposures. Read More

Bone Marrow Transplant 2020 Aug 10. Epub 2020 Aug 10.

Department of Oncology and Hematology, Shimane University Hospital, Izumo, Japan.

Aggressive NK-cell leukemia (ANKL) has a fulminant clinical course with a poor prognosis. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is currently the only curative treatment. Using the Japanese transplant registry data, the outcomes of 59 ANKL patients who underwent first allo-HSCT were analyzed. Read More

Pediatr Transplant 2020 Aug 10:e13802. Epub 2020 Aug 10.

Department of Pediatrics, Seoul National University Hospital, Seoul, Korea.

DC is caused by defects at the level of telomere maintenance, and cells from patients with this disease have abnormally short telomeres and show premature senescence. One consequence of DC is bone marrow failure. Thus, patients with DC often require HSCT. Read More

Pediatr Blood Cancer 2020 Aug 9:e28444. Epub 2020 Aug 9.

Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.

Background: Recent data show survival after matched unrelated donor (MUD) bone marrow transplantation (BMT) is similar to matched sibling procedures for young patients with severe aplastic anemia (SAA). Donor delays, risk of transplant-related mortality (TRM), and concern about chronic graft versus host disease raise questions about whether MUD BMT or immune suppression therapy (IST) should be preferred initial therapy for young patients lacking matched sibling donors.

Procedure: We performed a pilot trial to assess the feasibility of randomizing patients under age 26 with newly diagnosed SAA to receive IST versus MUD BMT. Read More

J Cardiol Cases 2020 Aug 13;22(2):48-51. Epub 2020 May 13.

Department of Cardiology and Catheterization Laboratories, Shonan Kamakura General Hospital, Kamakura, Japan.

Amyloid light-chain (AL) amyloidosis is a systemic disease characterized by the deposition of misfolded immunoglobulin light chain, causing organ failure, and in particular cardiac involvement is a leading cause of morbidity and mortality. We report the case of a 47-year-old man without prior cardiovascular events who presented with shortness of breath. He was diagnosed with primary AL cardiac amyloidosis (CA) from the laboratory test, the endomyocardial biopsy, the bone marrow examination, and the cardiovascular imaging. Read More

Case Rep Oncol 2020 May-Aug;13(2):783-788. Epub 2020 Jul 2.

Department of Hematology, National Centre for Cancer Care and Research, Hamad Medical Corporation, Doha, Qatar.

The commonest etiologies of new-onset pancytopenia are congenital bone marrow failure syndromes, marrow space-occupying lesions, infections, and peripheral destruction. Nutritional deficiencies, including folate and vitamin B12, can occasionally cause pancytopenia. We report a 48-year-old gentleman who presented with a 1-week history of dizziness and upper gastrointestinal bleeding. Read More

Blood Adv 2020 Aug;4(15):3621-3625

Department of Pediatric and Adolescent Oncology, Gustave Roussy, Paris-Saclay University, Villejuif, France; and.

To identify the factors influencing outcome in childhood mature B-cell non-Hodgkin lymphoma and acute leukemia (B-NHL/AL) with central nervous system (CNS) disease (CNS+), we analyzed patients <18 years with newly diagnosed B-NHL/AL registered in 3 Lymphomes Malins B studies in France between 1989 to 2011. CNS+ was diagnosed on fulfillment of ≥1 of the following criteria: any L3 cerebrospinal fluid (CSF) blasts (CSF+), cranial nerve palsy, isolated intracerebral mass but also clinical spinal cord compression, and cranial or spinal parameningeal extension. Two hundred seventeen out of 1690 patients (12. Read More

Case Rep Hematol 2020 18;2020:5638262. Epub 2020 Jul 18.

Albert Einstein Medical Center, Philadelphia, PA 19141, USA.

Hemophagocytic lymphohistiocytosis (HLH) is a rare condition characterized by an overwhelming inflammatory cascade activation which is often associated with rapid progression and high mortality. It may be familial with an underlying genetic mutation or triggered by infection, malignancy, and autoimmune disease. Disseminated histoplasmosis caused by histoplasma capsulatum is a granulomatous fungal disease seen typically in immunocompromised patients with varied clinical manifestations and requires long-term antifungal therapy. Read More

Leuk Res 2020 Jul 30;97:106430. Epub 2020 Jul 30.

Tisch Cancer Institute, Division of Hematology/Oncology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1079, New York, NY, 10029, United States. Electronic address:

Myelodysplastic syndromes (MDS) encompass a clinically heterogenous group of diseases defined by a clonal bone marrow failure state. Patients with lower-risk MDS primarily suffer from the consequences of anemia, with a subset having increased risks of bleeding and infection. There are few good therapeutic options for this patient population, as patients are dependent on cytokine support to improve hematopoiesis. Read More

Rinsho Ketsueki 2020 ;61(7):753-763

Department of Hematology, Sapporo Medical University School of Medicine.

Iron is essential to maintain cellular homeostasis, such as hemoglobin synthesis, mitochondrial respiratory chain formation, DNA replication, DNA demethylation, and histone demethylation. In addition, iron acts as a catalyst to produce reactive oxygen species, including hydroxyl radicals, which induce 8-OHdG production and DNA double strand breaks. Hence, the total body iron level should be strictly regulated. Read More

Stem Cell Res Ther 2020 Aug 5;11(1):340. Epub 2020 Aug 5.

São Paulo State University, UNESP - Campus de Assis, Assis, Brazil.

In the clinical study by Le Thi Bich et al., allogeneic expanded umbilical cord-derived mesenchymal stem cells (UC-MSCs) were intravenously infused to treat patients with chronic obstructive pulmonary disease (COPD). No severe or significant adverse effects were observed, while a significant improvement in COPD patients' quality of life was reported up to 6 months. Read More

Nutrition 2020 Jul 4;81:110931. Epub 2020 Jul 4.

Division of Biochemistry, Department of Biomedical Sciences, Nihon University School of Medicine, Itabashi-ku, Tokyo, Japan. Electronic address:

Objectives: Accidental exposure to high-dose radiation causes life-threatening acute radiation syndrome, features that include gastrointestinal syndrome (GIS) and hematopoietic syndrome (HS). Administration of vitamin C (VC), a free radical scavenger, has been reported to increase survival of mice in GIS and HS models. The effect of nutritional VC status on radiation injury remains unknown because, unlike humans, mice can synthesize VC. Read More

Circ Arrhythm Electrophysiol 2020 Jul 29. Epub 2020 Jul 29.

Heart and Vascular Research Center, MetroHealth Campus, Case Western Reserve University, Cleveland, OH.

- The mesenchymal stem cell (MSC), known to remodel in disease and have an extensive secretome, has recently been isolated from the human heart. However, the effects of normal and diseased cardiac MSCs on myocyte electrophysiology remain unclear. We hypothesize that in disease the inflammatory secretome of cardiac hMSCs remodels and can regulate arrhythmia substrates. Read More

Int J Mol Sci 2020 Jul 30;21(15). Epub 2020 Jul 30.

Hematology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20100 Milan, Italy.

There is growing interest in the contribution of the marrow niche to the pathogenesis of bone marrow failure syndromes, i.e., aplastic anemia (AA) and myelodysplastic syndromes (MDSs). Read More

Int J Hematol 2020 Aug 3. Epub 2020 Aug 3.

Department of Pediatrics, Nagoya University Graduate School of Medicine, 65, Tsurumai-cho, Showa-ku, Nagoya, Aichi, 466-8550, Japan.

Recently, several studies have been conducted to generate considerable evidence regarding unique treatments for severe aplastic anemia (SAA) in China. Haploidentical donor hematopoietic stem cell transplantation (HID-HSCT) showed an overall survival rate (80.3-86. Read More

In Vitro Cell Dev Biol Anim 2020 Aug 3. Epub 2020 Aug 3.

Department of Cardiology, Drum Tower Hospital, Medical School of Nanjing University , Nanjing, 210008, China.

The multiple therapeutic effects of bone marrow mesenchymal stem cells (BM-MSCs) have been verified in ischemic and reperfusion diseases. Exosomes are thought to play vital roles in MSCs-related cardioprotective effects. Recently, more and more evidences indicated that apoptosis and fibrosis were crucial pathological mechanisms in cardiac remodeling. Read More

Stem Cell Res Ther 2020 Aug 3;11(1):337. Epub 2020 Aug 3.

Laboratory of Biotechnology and Radiobiology, Hadassah - Hebrew University Medical Center, POB 12000, 91120, Jerusalem, Israel.

Purpose: Selected placental mesenchymal stromal cells isolated from the fetal mesenchymal placental tissues (f-hPSCs) were tested as cell therapy of lethal acute radiation syndrome (ARS) with bone marrow regeneration and induced extramedullary hematopoiesis.

Methods And Materials: f-hPSCs were isolated from the chorionic plate of human placentae and further expanded in regular culture conditions. 2 × 10 f-hPSCs were injected on days 1 and 4 to 8-Gy total body irradiated (TBI) C3H mice, both intramuscularly and subcutaneously. Read More

Am J Hematol 2020 Aug 3. Epub 2020 Aug 3.

Section of MDS, Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX.

Disease Overview: The myelodysplastic syndromes (MDS) are a very heterogeneous group of myeloid disorders characterized by peripheral blood cytopenias and increased risk of transformation to acute myelogenous leukemia (AML). MDS occurs more frequently in older males and in individuals with prior exposure to cytotoxic therapy.

Diagnosis: Diagnosis of MDS is based on morphological evidence of dysplasia upon visual examination of a bone marrow aspirate and biopsy. Read More

Br J Haematol 2020 Aug 3. Epub 2020 Aug 3.

Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Aachen, Germany.

Dyskeratosis Congenita (DKC) is a systemic disorder caused by mutations resulting in impaired telomere maintenance. Clinical features include bone marrow failure and an increased risk of developing hematological malignancies. There are conflicting data whether androgen derivatives (AD) can elongate telomeres in vivo and whether AD treatment enhances the risk of gaining myelodysplastic syndrome-related mutations. Read More

Front Pharmacol 2020 9;11:1044. Epub 2020 Jul 9.

Department of Oncology, The Johns Hopkins Hospital, Johns Hopkins Medicine, Baltimore, MD, United States.

Myelodysplastic syndromes (MDS) are a heterogeneous group of malignant disorders of hematopoietic stem and progenitor cells (HSPC), mainly characterized by ineffective hematopoiesis leading to peripheral cytopenias and progressive bone marrow failure. While clonal dominance is nearly universal at diagnosis, most genetic mutations identified in patients with MDS do not provide a conspicuous advantage to the malignant cells. In this context, malignant cells alter their adjacent bone marrow microenvironment (BME) and rely on cell extrinsic factors to maintain clonal dominance. Read More

J Pharm Bioallied Sci 2020 Apr-Jun;12(2):163-170. Epub 2020 Apr 10.

Unit of Pharmacology, Faculty of Medicine and Defence Health, Universiti Pertahanan Nasional Malaysia (National Defence University of Malaysia), Kuala Lumpur, Malaysia.

Introduction: Diamond-Blackfan anemia (DBA), one of a rare group of inherited bone marrow failure syndromes, is characterized by red cell failure, the presence of congenital anomalies, and cancer predisposition. It can be caused by mutations in the gene (25% of the cases).

Methods: This case report describes a 10-month-old boy who presented with 2 months' history of gradually increasing weakness and pallor. Read More

J Nippon Med Sch 2020 Aug 1. Epub 2020 Aug 1.

Department of General Medicine and Health Science, Nippon Medical School.

We describe a case of fever of unknown origin (FUO), renal failure, and pancytopenia. Initially, lymph proliferative disorder was suspected; therefore, bone marrow biopsy and 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography/computed tomography (PET/CT) were performed. Bronchoscopy and lung biopsy were performed because of abnormal FDG uptake in both lung fields. Read More

Stem Cells Dev 2020 Aug 1. Epub 2020 Aug 1.

Instituto de Cardiologia, 123206, Porto Alegre, Brazil;

Although anthracycline (ANT)-based treatment strongly contributes to cancer survivorship, the use of these agents is limited by the risk of induced cardiomyopathy. For those patients who develop heart failure, myocardial regenerative approaches are of particular interest, and a growing body of preclinical studies have been investigating the use of cell therapy for ANT-induced cardiomyopathy (AIC). However, since animal models and modalities of cell therapy are highly heterogeneous between studies, the efficacy of cell therapy for AIC is not clear. Read More

J Card Surg 2020 Aug 2. Epub 2020 Aug 2.

Georgetown University School of Medicine, Washington, District of Columbia.

Mycobacterium chimaera can cause disseminated infection following cardiac surgery with cardiopulmonary bypass and contaminated heater-cooler devices. We discuss a 41-year-old man with a disseminated M. chimaera infection following surgery for a type A aortic dissection. Read More

Mol Cell Biochem 2020 Jul 31. Epub 2020 Jul 31.

Dr. Panjwani Center for Molecular Medicine and Drug Research, International Center for Chemical and Biological Sciences, University of Karachi, Karachi, 75270, Pakistan.

Loss of cardiomyocytes due to myocardial infarction results in ventricular remodeling which includes non-contractile scar formation, which can lead to heart failure. Stem cell therapy aims to replace the scar tissue with the functional myocardium. Mesenchymal stem cells (MSCs) are undifferentiated cells capable of self-renewal as well as differentiation into multiple lineages. Read More

Blood 2020 Jul 31. Epub 2020 Jul 31.

Dana-Farber Cancer Institute, Boston, Massachusetts, United States.

Inherited bone marrow failure syndromes (IBMFS) are characterized by ineffective hematopoiesis and increased risk of developing myeloid malignancy. The pathophysiologies of different IBMFS are variable, and can relate to defects in diverse biological processes, including DNA damage repair (Fanconi anemia), telomere maintenance (dyskeratosis congenita), and ribosome biogenesis (Diamond-Blackfan anemia, Shwachman-Diamond syndrome). Somatic mutations leading to clonal hematopoiesis have been described in IBMFS, but the distinct mechanisms by which mutations drive clonal advantage in each disease and their associations with leukemia risk are not well understood. Read More

Cancer Res 2020 Jul 30. Epub 2020 Jul 30.

Comprehensive Cancer Center, Ohio State University Wexner Medical Center.

Heterozygous mutations in the BRCA1 gene predispose women to breast and ovarian cancer, while biallelic BRCA1 mutations are a cause of Fanconi Anemia (FA), a rare genetic disorder characterized by developmental abnormalities, early-onset bone marrow failure, increased risk of cancers, and hypersensitivity to DNA-crosslinking agents. BRCA1 is critical for homologous recombination of DNA double strand breaks (DSB). Through its coiled-coil domain, BRCA1 interacts with an essential partner, PALB2, recruiting BRCA2 and RAD51 to sites of DNA damage. Read More

Rev Chil Pediatr 2020 Feb 3;91(1):105-110. Epub 2019 Dec 3.

Unidad de Cuidados Intensivos, Servicio de Pediatría, Complejo Asistencial Dr. Sótero del Río, Chile.

Introduction: Guillain-Barre Syndrome (GBS) is rarely diagnosed in the first year of life. The association of GBS with Wiskott-Aldrich syndrome (WAS) is even less frequent and has been previously reported in only two children to our knowledge. Hydrocephalus is a known but rare complication of GBS. Read More

Ecancermedicalscience 2020 25;14:1063. Epub 2020 Jun 25.

Faculty of Medicine, University Mayor, Providencia, Santiago 7601003, Chile.

Objective: The objective of this study was to compare the CAPRA-S score (based on clinicopathological findings) and the subtypes of minimal residual disease (MRD) (based on the biological properties of cancer cells) to predict biochemical failure (BF) after prostatectomy radical.

Patients And Methods: This was a prospective single-centre study of men who underwent radical prostatectomy. One month after surgery, the blood and bone marrow were taken for circulating prostate cell (CPC) and micrometastasis detection, identified using anti-PSA immunocytochemistry and defined as positive or negative. Read More

Essays Biochem 2020 Jul 29. Epub 2020 Jul 29.

Genome Stability Unit, St. Vincent's Institute of Medical Research, Fitzroy, Victoria 3065, Australia.

The Fanconi anemia (FA) pathway coordinates a faithful repair mechanism for DNA damage that blocks DNA replication, such as interstrand cross-links. A key step in the FA pathway is the conjugation of ubiquitin on to FANCD2 and FANCI, which is facilitated by a large E3 ubiquitin ligase complex called the FA core complex. Mutations in FANCD2, FANCI or FA core complex components cause the FA bone marrow failure syndrome. Read More

Cureus 2020 Jun 24;12(6):e8806. Epub 2020 Jun 24.

Internal Medicine/Nephrology, Shifa International Hospital, Islamabad, PAK.

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hematopoietic stem cell (HSC) disorder characterized by a partial or complete deficiency of glycosyl-phosphatidylinositol (GPI)-linked membrane proteins, which leads to intravascular hemolysis. The loss of CD55 and CD59, two GPI-anchored proteins on red blood cell surfaces, from mutations in the X-linked phosphatidylinositol glycan class A (PIGA) gene, causes unrestricted proliferation of complement activation. The loss of CD59 especially leads to 'paroxysms' of acute intravascular hemolysis during events of stress. Read More

Stem Cells Int 2020 7;2020:1498315. Epub 2020 Jul 7.

Department of Gastroenterology, Wuxi People's Hospital Affiliated to Nanjing Medical University, Wuxi, Jiangsu 214023, China.

Background: Mesenchymal stem cells (MSCs), with the powerful metabolic and functional supporting abilities for inflammatory diseases, may be an effective therapeutic strategy for acute liver failure (ALF). However, the efficacy of MSCs can still be promoted if pretreatment is applied to enhance their poor migration towards the damaged liver. The purpose of this study is to determine the effect of IL-1 pretreatment on the efficacy and homing ability of MSCs in ALF. Read More

Acta Haematol 2020 Jul 28:1-4. Epub 2020 Jul 28.

Queensland Children's Hospital, Haematology Department, Brisbane, Queensland, Australia.

Histiocytoses are a diverse group of rare, clinically heterogeneous disorders characterised by tissue infiltration of histiocytes, which may result in organ dysfunction and failure. Over 100 different subtypes of histiocytoses have been recognised, including rare cases of ALK-positive histiocytosis. We report a case of histiocytosis in a neonate who presented with refractory thrombocytopenia, anaemia, and intermittent neutropenia. Read More

Turk J Gastroenterol 2020 Jun;31(6):459-465

Kunming Medical University Second Hospital, Hepatology Center, Kunming, China.

Background/aims: Previous studies have found that the injection of rat bone marrow mesenchymal stem cells (rBMSCs) in a mouse model of acute hepatic failure significantly relieves intestinal damage and endotoxemia. However, the mechanism of this process remains unknown. This study demonstrated the differentiation of rBMSCs into enterocyte-like cells and possible molecular mechanisms for this with the aim of finding a new treatment for intestinal epithelial injury and endotoxemia during liver failure. Read More

Biol Blood Marrow Transplant 2020 Jul 24. Epub 2020 Jul 24.

Department of Hematology Oncology and Stem Cell Transplant, Quaid-e-Azam International Hospital, Islamabad Pakistan, 44000.

Background: Cyclosporine (CsA) combined with short course methotrexate (MTX) is considered standard of care graft versus host disease (GVHD) prophylaxis for severe aplastic anemia (AA) patients transplanted using cyclophosphamide (Cy) plus anti-thymocyte globulin (ATG) conditioning. However, there is no consensus on optimal post-transplant GVHD prophylaxis for patients undergoing matched related donor (MRD) transplantation using fludarabine (Flu) based conditioning.

Methods: We conducted a single center retrospective analysis of acquired AA (n=106) patients undergoing MRD transplantation from July 2007 till January 2019. Read More

J Intern Med 2020 Jul 27. Epub 2020 Jul 27.

From the, Hematovascular Biology Center, Robert M. Berne Cardiovascular Research Center, University of Virginia School of Medicine, Charlottesville, VA, USA.

Clonal haematopoiesis results from acquired mutations in haematopoietic stem and progenitor cells (HSPCs). These mutations can confer the HSPC with a competitive advantage, leading to their clonal expansion within the limiting bone marrow niche. This process is often insufficient to produce a haematologic malignancy; however, the expanding HSPC clones increasingly give rise to progeny leucocytes whose phenotypes can be altered by the somatic mutations that they harbour. Read More

Bol Med Hosp Infant Mex 2020 ;77(4):207-211

Departmento de Gastroenterología Pediátrica. Centro Médico Nacional 20 de Noviembre, Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado, Mexico City, Mexico.

Background: Hemophagocytic lymphohistiocytosis (HLH) is considered a medical emergency that should be recognized in patients with fever, splenomegaly, and progressive deterioration of the general condition. Laboratory findings include cytopenia, hypertriglyceridemia, hypofibrinogenemia, and hyperferritinemia. For HLH diagnosis, it is essential, although not mandatory, to perform a bone marrow biopsy. Read More

Transplant Proc 2020 Jul 23. Epub 2020 Jul 23.

Department of Pediatric Bone Marrow Transplantation, Oncology, and Hematology, Wroclaw Medical University, Wroclaw, Poland. Electronic address:

Peripheral blood hematopoietic stem cell mobilization is widely performed in a variety of clinical facilities and is believed to be a safe outpatient procedure. In this report, we describe a child with neuroblastoma who developed an extremely severe acute lung injury after granulocyte colony-stimulating factor was used for peripheral hematopoietic stem cell mobilization. A 3-year-old boy with a medical history of patent foramen ovale and secundum atrial septal defect was diagnosed with an MYCN-amplified neuroblastoma and treated with chemotherapy. Read More

Hematol Transfus Cell Ther 2020 Jul 6. Epub 2020 Jul 6.

Centro de Hematologia e Hemoterapia, Universidade Estadual de Campinas, (HEMOCENTRO-UNICAMP), Campinas, SP, Brazil; Instituto Nacional de Ciência e Tecnologia do Sangue (INCT-S), Campinas, SP, Brazil.

Paroxysmal nocturnal hemoglobinuria is a chronic, multi-systemic, progressive and life-threatening disease characterized by intravascular hemolysis, thrombotic events, serious infections and bone marrow failure. Paroxysmal nocturnal hemoglobinuria results from the expansion of a clone of hematopoietic cells that due to an inactivating mutation of the X-linked gene PIG-A are deficient in glycosylphosphatidylinositol-linked proteins. Early diagnosis, using flow cytometry performed on peripheral blood, the gold standard test to confirm the diagnosis of paroxysmal nocturnal hemoglobinuria, is essential for improved patient management and prognosis. Read More

Biol Blood Marrow Transplant 2020 Jul 23. Epub 2020 Jul 23.

Department of Medicine, Adult Bone Marrow Transplant Service, Memorial Sloan Kettering Cancer Center, New York, NY; Department of Medicine, Weill Cornell Medical College, New York, New York; The Rockefeller University, New York, NY. Electronic address:

Background: Allogeneic hematopoietic cell transplantation (alloHCT) for multiple myeloma (MM), with its underlying graft-versus-tumor capacity, is a potentially curative approach for high-risk patients. Relapse is the main cause of treatment failure, but predictors for post-relapse survival are not well-characterized.

Methods: Retrospective analysis to evaluate predictors for post-relapse overall survival (OS) in 60 MM patients who progressed after myeloablative T cell-depleted alloHCT. Read More

Nat Commun 2020 Jul 24;11(1):3702. Epub 2020 Jul 24.

Department of Neuroscience, The Ohio State University, Columbus, OH, USA.

Spinal cord injury (SCI) causes immune dysfunction, increasing the risk of infectious morbidity and mortality. Since bone marrow hematopoiesis is essential for proper immune function, we hypothesize that SCI disrupts bone marrow hematopoiesis. Indeed, SCI causes excessive proliferation of bone marrow hematopoietic stem and progenitor cells (HSPC), but these cells cannot leave the bone marrow, even after challenging the host with a potent inflammatory stimulus. Read More

Turk J Urol 2020 Jul 2. Epub 2020 Jul 2.

Department of Medicine, Hospital de Carabineros de Chile, Ñuñoa, Santiago, Chile.

Objective: The Epstein criteria (EC) used to select men for active surveillance do not predict biologically insignificant diseases. Minimal residual disease (MRD) is an undetected microscopic disease that remains after radical prostectomy (RP) and is a biological classification associated with the risk of treatment failure. Subtypes of MRD, the 10-year biochemical failure free survival (BFFS), and restricted mean biochemical failure free survival time (RMST) were determined and compared in EC patients treated with RP. Read More

Eur Rev Med Pharmacol Sci 2020 Jul;24(13):7320-7323

Department of Emergency Medicine, Fondazione Policlinico A. Gemelli IRCCS, Rome, Italy.

Macrophage activation syndrome (MAS) is a life-threatening condition and a medical emergency with a high-risk of mortality. It belongs to a group of diseases known as "hemophagocytic lymphohistiocytosis", characterized by a cytokine storm, with secretion of tumor necrosis factor, interleukins and interferon-gamma, and an inappropriate activation of macrophages and T-lymphocytes. Some inflammatory and systemic autoimmune diseases, such as systemic juvenile idiopathic arthritis, Still's disease and systemic lupus erythematosus, can develop into macrophage activation syndrome. Read More

Haematologica 2020 Jul 23. Epub 2020 Jul 23.

Central Research Facility Cell Sorting, Hannover Medical School, Hannover, Germany

Congenital amegakaryocytic thrombocytopenia caused by deleterious homozygous or compound heterozygous mutations in (CAMT-MPL) is a rare inherited bone marrow failure syndrome presenting as an isolated thrombocytopenia at birth progressing to pancytopenia due to exhaustion of hematopoietic progenitors. The analysis of samples and clinical data from a large cohort of 56 patients with CAMT-MPL resulted in a detailed description of the clinical picture and reliable genotype-phenotype correlations for this rare disease. We extended the spectrum of CAMT causing mutations regarding number (17 novel mutations) and impact. Read More

Medicine (Baltimore) 2020 Jul;99(29):e21015

aDepartment of Neonatology bDepartment of Oncology, Jingmen No.1 People's Hospital, Jingmen, Hubei, P.R. China.

Background: Down syndrome (DS) also known as Trisomy 21, is a chromosomal disorder affecting approximately 1 in 732newborns annually in the United States. Children with DS are more likely to develop acute lymphoblastic leukemia (ALL). For the management of pediatric ALL, different treatment protocols have been set up since years. Read More

Blood 2020 Jul 23. Epub 2020 Jul 23.

New York Blood Center, New York, New York, United States.

Diamond-Blackan anemia (DBA) is the first ribosomopathy described and one of the constitutional inherited bone marrow failure syndromes. Erythroblastopenia is the major characteristic feature of the disease, which is a model for ribosomal diseases, related to a heterozygous allelic variation in one of the 20 ribosomal protein (RP) genes of either small or large ribosomal subunit. The salient feature of classical DBA is a defect in ribosomal RNA (rRNA) maturation, generating a nucleolar stress leading to stabilization of p53 and activation of its targets that result in cell cycle arrest and apoptosis. Read More

Sci Rep 2020 Jul 22;10(1):12223. Epub 2020 Jul 22.

School of Applied Science, The University of Mississippi, P.O. Box 1848, University, MS, 38677, USA.

Whether telomere attrition reducing proliferative reserve in blood-cell progenitors is causal has important public-health implications. Mendelian randomization (MR) is an analytic technique using germline genetic variants as instrumental variables. If certain assumptions are met, estimates from MR should be free from most environmental sources of confounding and reverse causation. Read More

J Clin Immunol 2020 Jul 21. Epub 2020 Jul 21.

Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

This is a report of a successful bone marrow transplant in an IFN-γR1 patient with progressive mycobacterial infection.

Purpose: Hematopoietic cell transplant in patients with interferon gamma receptor deficiencies has been fraught with challenges, not the least of which is failure of engraftment and infectious complications.

Methods: This is a report of a successful hematopoietic cell transplant in an actively infected patient of advanced age. Read More

Mol Genet Genomic Med 2020 Jul 21:e1405. Epub 2020 Jul 21.

Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA.

Background: Over half of children with rare genetic diseases remain undiagnosed despite maximal clinical evaluation and DNA-based genetic testing. As part of an Undiagnosed Diseases Program applying transcriptome (RNA) sequencing to identify the causes of these unsolved cases, we studied a child with severe infantile osteopetrosis leading to cranial nerve palsies, bone deformities, and bone marrow failure, for whom whole-genome sequencing was nondiagnostic.

Methods: We performed transcriptome (RNA) sequencing of whole blood followed by analysis of aberrant transcript isoforms and osteoclast functional studies. Read More

Pediatr Nephrol 2020 Jul 19. Epub 2020 Jul 19.

Division of Critical Care Medicine, Nicklaus Children's Hospital, Miami, FL, USA.

Background: Kidney replacement therapy (KRT) is frequently used in critically ill children. The objective of this study is to investigate if the requirement for hemodialysis (HD) is an independent risk factor for mortality in mechanically ventilated children METHODS: In this retrospective cohort study, we analyzed the 2012 and 2016 Kids Inpatient Database and used a weighted sample to obtain a national outcome estimate. For our analysis, we included children aged one month to 17 years who were mechanically ventilated; we then compared the demographics, comorbidities, and mortality rates of those patients who had undergone HD with those who did not. Read More