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Autosomal Dominant Aplasia and Myelodysplasia

Bone Marrow Failure Syndrome Type 1


  • Anemia and cleft palatal (6,7,8 of the Stark and Kernahan Classification) were presented at birth and 1 month later, a palatal obturator was installed and the patient presents onychophagy at present.[revistas.ucr.ac.cr]
  • Pure red cell aplasia: normal WCC and platelets Presents at 1yr/neonatal[brainscape.com]
  • Case 2 An 18 mo old boy of Laotian descent presents for a WCC. He has pallor and fatigue. He has splenomegaly and slight jaundice on exam. He has good nutrition. PCP checks venous CBC.[docslide.us]
  • […] free Hb in plasma absent present urine hemosiderin absent present Slide 20 Causes of intravascular hemolysis Mechanical prosthetic heart valve, tight AS march & bongo drummers hemoglobinuria Microangiopathic DIC, TTP, HUS Immunological acute hemolytic[docslide.us]
  • Comprehensive in scope, it's a must-have resource for both residents and practicing pathologists alike. Authored by the chief architects of the WHO classification in neoplasms of hematopoietic and lymphoid tissue.[books.google.com]
  • Confidently prepare for the upcoming recertification exams for clinical pathologists set to begin in 2016.[books.google.com]
  • It was used by pathologists and clinicians for almost 20 years.[en.wikipedia.org]
  • PMID: 20301488 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion[invitae.com]
  • […] all the latest approaches in clinical laboratory medicine with new and updated coverage of: the chemical basis for analyte assays and common interferences; lipids and dyslipoproteinemia; markers in the blood for cardiac injury evaluation and related stroke[books.google.com]
  • Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke (summary by Bergmann et al., 2009 ).[mendelian.co]
  • […] overhydration, transfusions Splenic sequestration Young children, except in SC dz Monitoring, cautious transfusion Sepsis Encapsulated organisms due to functional asplenia PCN prophylaxis up to age 5, immunizations, fever precautions Empiric antibiotics Stroke[docslide.us]


  • The workup in patients with possible MDS includes a complete blood count with differential, peripheral blood smear, and bone marrow studies (see Workup ).[emedicine.medscape.com]
  • 2013 Nick Fustino, MD Blank Childrens Hospital Cancer and Blood Disorders Center Objectives Define anemia and red blood cell (RBC) indices in pediatric patients Learn to categorize anemias based on RBC size and mechanism Understand the presentation, workup[docslide.us]


  • Authored by international experts in the field, it covers a broad range of hematologic disorders -- both benign and malignant -- with information on the pathogenesis, clinical and pathologic diagnosis, and treatment for each.[books.google.com]
  • Effectively monitor the pace of drug clearing in patients undergoing pharmacogenomic treatments with a new chapter on this groundbreaking new area.[books.google.com]
  • Medical Treatment Guidelines , Jersey State Board of Physical Therapy , Premier Issue 2009[new-york-library.com]
  • […] cells, RBC Elevated Hgb A2 on electropheresis thal trait Extramedullary hematopoiesis Cunningham, Hem Onc Clin NA, 2010 Thalassemia Treatment and Prognosis Treatment Varies as above Genetic counseling Prognosis Excellent in mild-intermediate Worse in[docslide.us]
  • […] most patients do not need treatment splenectomy counsel patient and family about inheritance Slide 35 An approach to hemolytic anemia ImmuneNon-immune CongenitalAcquired Defects of: RBC membrane/ skeleton (eg.[docslide.us]


  • PMID: 7577623 Prognosis de la Fuente J, Dokal I Pediatr Transplant 2007 Sep;11(6):584-94. doi: 10.1111/j.1399-3046.2007.00721.x. PMID: 17663679 Smith OP, Reeves BR, Kempski HM, Evans JP Br J Haematol 1995 Sep;91(1):150-3.[ncbi.nlm.nih.gov]
  • Constipation, metallic taste, teeth staining IV iron if malabsorption suspected Anaphylaxis, hypotension Iron content of foods (mg) IDA - Prognosis Prognosis Retic should in 4-6 days Hgb should 1 g/dL/week Once CBC normalized, treat 3 more months to replete[docslide.us]
  • Typically, prognosis for these patients is favorable, with a 63-month median survival.[en.wikipedia.org]
  • These patients have a worse prognosis and response to treatment.[emedicine.medscape.com]
  • Prognosis The prognosis is poor. Nearly all reported patients have died of their disease. Note Complete or partial monosomy may be associated with other abnormalities including 8, 5q-, and t(1;7).[atlasgeneticsoncology.org]


  • Etiology Calvo KR, Vinh DC, Maric I, Wang W, Noel P, Stetler-Stevenson M, Arthur DC, Raffeld M, Dutra A, Pak E, Myung K, Hsu AP, Hickstein DD, Pittaluga S, Holland SM Haematologica 2011 Aug;96(8):1221-5.[ncbi.nlm.nih.gov]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Etiology and Pathogenesis Clinical Features Laboratory Features Differential Diagnosis Therapy, Course, and Prognosis Chronic Pure Red Cell Aplasia—Acquired Definition and History Etiology and Pathogenesis Clinical Features Laboratory Features Differential[medtextfree.wordpress.com]
  • These etiologies involve the following: A decrease in or damage to the hematopoietic stem cells and their microenvironment, resulting in hypoplastic or aplastic bone marrow Maturation defects, such as in vitamin B-12 or folate deficiency Differentiation[emedicine.medscape.com]
  • Determine etiology: decreased production, increased consumption, or both Careful review of peripheral blood smear Additional testing as needing: iron studies, Hgb electropheresis, EMA, etc.[docslide.us]


  • Epidemiology: There is an even male to female distribution. Median age at presentation age 8 years although adult presentations also have been reported.[atlasgeneticsoncology.org]
  • The underlying mechanisms may also be caused by a genetic predisposition or treatment for infections or autoimmune conditions. [6] Epidemiology The actual incidence of MDS in the United States is unknown.[emedicine.medscape.com]
  • In Mexico, there are, to our knowledge, no epidemiological data on FA, and it is thought that many cases are underdiagnosed. This document reports the clinical case of a patient diagnosed with FA who the cardinal signs of this rare pathology.[revistas.ucr.ac.cr]
  • Applying Molecular Epidemiology in Pediatric Leukemia. J. Investig. Med. 2015; :None. PMID: 25973690 Owen, C, et al. Familial myelodysplasia and acute myeloid leukaemia--a review. Br. J. Haematol. 2008; 140(2):123-32.[invitae.com]
  • "Epidemiological features of myelodysplastic syndromes: results from regional cancer surveys and hospital-based statistics". Int. J. Hematol . 73 (4): 405–10. doi : 10.1007/BF02994001 . PMID 11503953 . Block M, Jacobson LO, Bethard WF (July 1953).[en.wikipedia.org]
Sex distribution
Age distribution


  • These results suggest that inherited mutations in a component of the SRP have a role in the pathophysiology of AA/MDS, identifying a third pathway for developing these disorders alongside transcription factor and telomerase mutations.[ncbi.nlm.nih.gov]
  • Molecular and cellular studies now suggest that accelerated apoptosis of neutrophil precursors in the bone marrow is the common pathophysiologic mechanism.[link.springer.com]
  • Published on 15-Dec-2015 View 219 Download 0 Transcript Slide 1Normocytic Anemia David Lee, MD, FRCPC Slide 2 Normocytic anemia a heterogenous group of anemias normocytosis implies normal DNA metabolism and hemoglobin synthesis no common pathophysiology[docslide.us]
  • Post on 15-Dec-2015 219 views TRANSCRIPT Slide 1Normocytic Anemia David Lee, MD, FRCPC Slide 2 Normocytic anemia a heterogenous group of anemias normocytosis implies normal DNA metabolism and hemoglobin synthesis no common pathophysiology Slide 3 Approach[vdocuments.net]
  • Defects of immune surveillance offer new insights into the pathophysiology and therapy of myelodysplastic syndromes. Leukemia (2007) 21(11):2237–9. doi:10.1038/sj.leu.2404868 CrossRef Full Text Google Scholar 51.[frontiersin.org]


  • Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection.[books.google.com]
  • Inhibitors of MAPK pathway ERK1/2 or p38 prevent the IL-1{beta}-induced up-regulation of SRP72 autoantigen in Jurkat cells.[antibodies-online.com]
  • The pediatric approach involved was performed with a preventive and restorative approach, in addition to the design and placement of a palatal shutter.[revistas.ucr.ac.cr]
  • Childhood, 7th ed. 65% of TBI is in HEMOGLOBIN Cows Milk is for Baby Cows Causes of IDA in children Nutritional Excessive Cows Milk Intake Chronic low grade hemorrhagic enteropathy Low iron content Poor bioavailability of iron (50% in BM, 5-10% cows milk) Prevention[docslide.us]
  • In the same line, some therapeutic strategies have been designed to boost the immunosurveillance for preventing relapse and eventually cure cancer ( 4 ).[frontiersin.org]

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