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Fanconi anemia romana

Abstract Fanconi anemia is a rare bone marrow failure and cancer predisposition syndrome. Childhood onset of aplastic anemia is one of the hallmarks of this condition. Supportive therapy in the form of blood products, androgens, and hematopoietic growth factors may boost blood counts temporarily Non-malignant hematological diseases (e.g. autoimmune and metabolic disorders, aplastic anemia, Sickle cell anemia, Fanconi anemia, Diamond-Blackfan anemia, thalassemia, osteopetrosis, Wiskott-Aldrich syndrome, severe combined immunodeficiency, Hemophagocytic lymphohistiocytosis and other immunoregulatory disorders) Romana Dallamano +41 79. Medulloblastoma, the most common pediatric malignant brain tumor often arises sporadically; however, in a subgroup of patients, there exist familial conditions such as Fanconi anemia with biallelic B.. Anemia Fanconi este o entitate specială asociată aplaziilor medulare, apărând în aproximativ 25% din cazuri, cu transmitere x-lincată. Aceasta se asociază cu o serie de anomalii congenitale asociate: hipostaturalitatea, hiperpigmentarea cutanată sau pete cafe-au-lait,.

(PDF) Triplication of 1q in Fanconi anemia Carlos Roman

  1. i. non-malignant hematological disease (e.g. autoimmune and metabolic disorders, aplastic anemia, Sickle cell anemia, Fanconi anemia, Diamond-blackfan anemia, thalassemia, osteopetrosis, Wiskott-Aldrich syndrome, severe combined immunodeficiency) or ii. malignant disease with higher risk of GF, i.e. Acute Myeloid Leukemia (AML) and Acute.
  2. Fanconi anemia (FA) is a DNA repair syndrome generated by mutations in any of the 22 FA genes discovered to date1,2. Mutations in FANCA account for more than 60% of FA cases worldwide3,4
  3. Romana's sign 2. Chronic infection usu. asymptomatic, but some can develop myocarditis 3. Caused by trypanosoma cruzi 4. Treatment: nifurtimox or benznidazole Fanconi Anemia ___ is the most common form of inherited aplastic anemia. Fanconi Anemia. Name the condition: 1. hypo and hyper-pigmented spot
  4. Fanconi Anemia (FA) is a genetically and phenotypically heterogeneous disorder, inherited with an autosomal (or rarely X-linked) recessive pattern, occurring in approximately 1/100,000 births per year [].Main features of FA are the presence of multiple congenital somatic abnormalities, the gradual onset of bone marrow failure, and a strong predisposition to cancer
  5. Fanconi anemia HSCs have proven to be the proverbial needle in the hay stack. Improving cell-based therapies for FA will likely require a combination of several strategies ().Despite evidence pointing to the role of pro-apoptotic cytokines , , the precise mechanism by which HSCs are progressively lost in children with FA remains an enigma.. Supportive care using hematopoietic growth factors or.

(PDF) Fanconi anemia gene variants in therapy-related

Fanconi Anemia (FA) is an inherited disorder characterized by the variable presence of multiple congenital somatic abnormalities, bone marrow failure and cancer susceptibility. Medulloblastoma (MB).. A) 2D-DIGE comparison of cells grown in the presence or absence of VSG221 RNAi. T. brucei 221VB1.1 cells were either grown in the absence of tetracycline, or in the presence of tetracycline (Tet. Fanconi Anemia (FA) is an inherited disorder characterized by the variable presence of multiple congenital somatic abnormalities, bone marrow failure and cancer susceptibility. Medulloblastoma (MB) has been described only in few cases of FA with biallelic inactivation in the tumor suppressor gene BRCA2/FANCD1or its associated gene PALB2/FANCN

CRISPR/Cas9 Targeted Gene Editing and Cellular Engineering in Fanconi Anemia (doi: 10.1089/scd.2016.0149) This article has been peer-reviewed and accepted for publication, but has yet to undergo. Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup . By Evelina Miele, Angela Mastronuzzi Luisa Strocchio, Manila Antonelli, Francesca Romana Buttarelli, Massimo Zani, Sergio Ferraro, Amelia Buffone, Alessandra Vacca, Isabella Screpanti, Felice Giangaspero, Giuseppe. Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. Hum Mutat 2005;25:142-9. DOI PubMed; 13. Lo ten Foe JR, Barel MT, Thuss P, Digweed M, Arwert F, Joenje H. Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic.

Bone Marrow Transplant For Fanconi Anemia | Milaap

Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. DBA causes low red blood cell counts (anemia), without substantially affecting the other blood components (the platelets and the white blood cells), which are usually normal Looking for abbreviations of FRTS? It is Fanconi Renotubular Syndrome. Fanconi Renotubular Syndrome listed as FRTS. Fanconi Renotubular Syndrome - How is Fanconi Renotubular Syndrome abbreviated? Federatia Romana de Turism Sportiv (Romanian: Romanian Federation of Sports Tourism) Fanconi anemia; Fanconi anemia; Fanconi anemia; Fanconi. Fanconi anemia. Aplastic anemia not present at birth, develops about 6 years of life. CHARGE syndrome. Coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth or development, genital or urinary abnormalities, and ear abnormalities and deafnes Fanconi anemia (FA) is an inherited cancer predisposition and bone marrow failure syndrome, affecting about 1 in 100,000 births. The clinical presentation of FA is highly heterogeneous. Approximately two thirds of patients present with physical anomalies, which may vary greatly in number and severity

Finding the needle in the hay stack: Hematopoietic stem

  1. The most devastating associated condition is Fanconi anemia. Children with Fanconi anemia do not have signs of bone marrow failure at birth; therefore, the diagnosis is not initially apparent. The..
  2. Myeloid neoplasia develops in a large fraction of patients with Fanconi anaemia during childhood or early adult life. The risk varies according to genetic subgroup and associated abnormalities (Rosenberg et al, 2004) (Cioc et al, 2010). The traits of Fanconi anaemia may be unrecognized and the diagnosis should always be considered even in adults
  3. For example, PGD may be performed when a prior child has an inherited disorder, such as Fanconi anemia, which might be treated by a stem cell transplant. The couple may opt for PGD during the next pregnancy in order to deselect an affected embryo, but at the same time select an embryo that is HLA compatible with their affected child
  4. Anemia (also spelled anaemia) is a decrease in the total amount of red blood cells (RBCs) or hemoglobin in the blood, or a lowered ability of the blood to carry oxygen. When anemia comes on slowly, the symptoms are often vague and may include feeling tired, weakness, shortness of breath, and a poor ability to exercise. When the anemia comes on quickly, symptoms may include confusion.
  5. Approximately 30% of children with MDS or MDS-related AML have a recognizable genetic predisposition to leukemia such as neurofibromatosis 1 (NF1), Fanconi Anemia, or severe congenital neutropenia. These associations may provide a starting point for elucidating genes and growth control pathways that may be critical in adult MDS and MDS-related AML
  6. ate the main causes. As genetic aberrations are the main causes of all forms of hereditary anemia, the optimal approach involves.
  7. Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study [see comments] A Butturini, RP Gale, PC Verlander, B Adler-Brecher, AP Gillio, AD Auerbach. J Starck, R Sarkar, M Romana, A Bhargava, AL Scarpa, M Tanaka, JW Chamberlain, SM Weissman, BG Forget

The Fanconi anemia pathway repairs DNA interstrand crosslinks in the genome. Anam Farooqui, Mahboubeh Mehmankhah, Safia Tazyeen & Romana Ishrat. Medical Laboratory Technology Department, Jazan. Anemia aplastică, anemie Fanconi. Pre sau post transplant medular. Administrare imediat după diagnostic. Pentru ca imunoterapia să aibă rezultate maxime și succesul dorit, și să poată duce chiar la vindecarea completă a pacientului, se recomandă administrarea acesteia imediat după diagnosticare, indiferent de stadiul determinat al.

Anemia (din grecescul Ἀναιμία anaîmia, insemnând fără sânge) este definită ca o deficiență calitativă sau cantitativă a hemoglobinei, moleculă ce se găsește in globulele roșii. Deoarece hemoglobina transportă oxigenul de la plămâni la țesuturi, anemia conduce la hipoxie (lipsă de oxigen) în organe Cea mai frecventa cauza a anemiei este carenta de fier, provocata la randul ei de o pierdere cronica de sange.Pierderea de sange se poate priduce fie prin fie prin menstruatie, fie printr-o hemoragie digestiva (cauzata de ulcer peptic, gastrita, hemoroizietc.) Cresterea necesitatii de fier in timpul sarcinii sau in perioadele de crestere rapida la copii si adolescenti pot fi alte cauze ale. HLA (antigenul leucocitar uman) este denumirea pentru antigenele care sunt produsele unui complex de gene situate pe mai mulți loci strâns înlănțuiți, numit complexul major de histocompatibilitate (MHC), localizat pe cromozomul 6.Acest grup de gene este legat de funcția sistemului imunitar la oameni și codifică proteinele aflate pe suprafața celulelor prezentatoare de antigen Haplo-identical or mismatched unrelated donor hematopoietic cell transplantation for Fanconi anemia: Results from the Severe Aplastic Anemia Working Party of the EBMT. Loss of alpha globin genes is associated with improved microvascular function in patients with sickle cell anemia. Marc Romana, Karen Reminy, Berenike Moeckesch, Keyne.

Anemia Fanconi. Este o anemie foarte rară care are un debut tardiv, la vârsta preșcolară sau școlară fiind tot un tip de insuficiență a măduvei sau aplazie medulară. Se transmite tot genetic, autozomal recesiv. Revista Romana de pediatrie, Florea Iordachescu, Constantin Arion- pag. 364, 365,366,. Serge Romana. Maryvonne Le Coniat. Clonal chromosome abnormalities were detected in bone marrow cells of 20 patients with Fanconi anemia investigated at various stages of the disease. Two. Constitutive elevation of serum alpha-fetoprotein in Fanconi anemia Clinical Trials & Observations Bruno Cassinat , Philippe Guardiola , Sylvie Chevret , Marie-Hélène Schlageter , Marie-Elisabeth Toubert , Jean-Didier Rain , Eliane Gluckma

Study to Investigate the Pharmacokinetics

  1. Anemia Fanconi -este o afecţiune a sângelui cauzată de anomalii înnăscute; problemele pot începe la o vârstă timpurie şi pot duce la leucemie sau anemie aplastică (riscul de cancer oral în rândul persoanelor cu anemia Fanconi este de până la 500 de ori mai mare decât la populaţia generală)
  2. Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population (839 Online Views) Orna Steinberg-Shemer, Tracie A. Goldberg, Joanne Yacobovich, Carina Levin, Ariel Koren, Shoshana Revel-Vilk, Tal Ben-Ami, Amir A. Kuperman, Vered Shkalim Zemer, Amos Toren, Joseph Kapelushnik, Ayelet Ben-Barak.
  3. Fanconi anemia is a syndrome characterized by high risk of bone marrow failure and malignancy, and malformations in about 60% of patients . Whole FANCB gene deletions in males with Fanconi anemia presenting as VACTERL have been reported twice, in both cases the aberrations were detected by array-CGH screening [30] , [31]

Fanconi anemia and biallelic BRCA2 mutation diagnosed in a

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Anemia aplastică - ROmedi

There are concerns that, as in patients with Fanconi anemia Moshous D, Pannetier C, Chasseval Rd, Deist FL, Cavazzana-Calvo M, Romana S, et al. Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. J Clin Invest. (2003) 111:381-7. doi: 10.1172/JCI16774. Objectives: To investigate the associations between several sickle cell disease genetic modifiers (beta-globin haplotypes, alpha-thalassemia, and glucose-6-phosphate dehydrogenase deficiency) and the level of oxidative stress and to evaluate the association between oxidative stress and the rates of vaso-occlusive events. Study design: Steady-state oxidative and nitrosative stress markers. Acute lymphoblastic leukemia (ALL) is the most common cancer seen in the pediatric population and accounts for greater than 50% of hematopoietic malignancies in this age group. By contrast, ALL is a relatively rare leukemia subtype in adults, accounting for only 2%-3% of hematopoietic malignancies Volunteer-lifeguard at the Bereavement, Fanconi Anemia, and Lupus sessions. Volunteer Alternative Spring-Break (H.O.P.E.) Program. • Hogar del Nino; La Romana, Dominican Republi

A Clinical Study to Investigate Interferon Gamma (IFNɣ

The maintenance of a pristine genome, free from errors, is necessary to prevent cellular transformation and degeneration. When errors in DNA are detected, DNA damage repair (DDR) genes and their regulators are activated to effect repair. When these DDR pathways are themselves mutated or aberrantly downregulated, cancer and neurodegenerative disorders can ensue Luptele grele se duc chiar și sub apa! Un antrenament inedit pentru #InczeKriszta și #AxenteCătălina! #FRLupte #MTS #COSR #wrestlingROmania.. A novel classification of hematologic conditions in patients with Fanconi anemia Andrea Visentin, Laura Bonaldi, Gian Matteo Rigolin, Francesca Romana Mauro, Annalisa Martines, Federica Frezzato, Stefano Pravato, Leila Romano Gargarella, Maria Antonella Bardi, Maurizio Cavallari, Eleonora Volta, Francesco Cavazzini, Mauro Nanni, Monica. Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 20, one copy inherited from each parent, form one of the pairs. Chromosome 20 spans about 63 million DNA building blocks (base pairs) and represents approximately 2 percent of the total DNA in cells. Identifying genes on each chromosome is an. paper: CHILDS NERVOUS SYSTEM (Heidelberg Germany: Springer Verlag Germany) pp. 809-818 - issn: 0256-7040 - wos: WOS:000583116800001 (1) - scopus: 2-s2.0-85094818579 (1

Sickle cell trait describes a condition in which a person has one abnormal allele of the hemoglobin beta gene (is heterozygous), but does not display the severe symptoms of sickle-cell disease that occur in a person who has two copies of that allele (is homozygous). Those who are heterozygous for the sickle cell allele produce both normal and abnormal hemoglobin (the two alleles are codominant. Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas. Chioma J Madubata, Alireza Roshan-Ghias, Timothy Chu, Samuel Resnick, Junfei Zhao, Luis Arnes, Jiguang Wang & Raul Rabadan The pre-implantation process is a futuristic procedure that scientist use to genetically sort out embryo's to have the desired cells to implant into babies (Oliver, 2000). Adam Nash is the first designer baby in history to go through this procedure for his sister that was dying from Fanconi's anemia (Oliver, 2000) Chromosoma. The 2019-2020 Journal Impact IF of Chromosoma is 3.442, which is just updated in 2020. The highest Journal Impact IF of Chromosoma is 4.602. The lowest Journal Impact IF of Chromosoma is 3.26. The total growth rate of Chromosoma IF is -10.5% Leucemia. La leucemia es un tipo de cáncer en el cual el cuerpo produce grandes cantidades de glóbulos sanguíneos anormales (generalmente blancos). Cada año se diagnostican alrededor de 28,500 casos nuevos de leucemia. Existen varios tipos de leucemia, agrupados como aguda (la enfermedad progresa rápidamente) o crónica (la enfermedad.

(PDF) Development of Lentiviral Vectors with Optimized

This chapter offers literary review of most frequently observed brain tumors in childhood. It offers basics of epidemiology, clinical presentation and diagnostics of most often occurring types of tumors according to new WHO classification of brain tumors from 2016 and emphasizes molecular biological characteristics and role of altered genes and genetic pathways in brain tumor etiology. False; There is an upper limit, beyond which you probably WON'T get blood from the blood bank. Below the limit, you CAN give a transfusion, but you would still base it on symptom CA: A Cancer Journal for Clinicians publishes information about the prevention, early detection, and treatment of cancer, as well as nutrition, palliative care, survivorship, and additional topics of interest related to cancer care The Journal Impact 2019-2020 of Expert Review of Hematology is 2.610, which is just updated in 2020. Compared with historical Journal Impact data, the Metric 2019 of Expert Review of Hematology grew by 33.85% . The Journal Impact Quartile of Expert Review of Hematology is Q2 . The Journal Impact of an academic journal is a scientometric Metric.

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How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies (1206 Online Views) David Wu, Xi Luo, Simone Feurstein, Chimene Kesserwan, Shruthi Mohan, Daniel E. Pineda-Alvarez, Lucy A. Godley, on behalf of the collaborative group of the. A Biblioteca Virtual em Saúde é uma colecao de fontes de informacao científica e técnica em saúde organizada e armazenada em formato eletrônico nos países da Região Latino-Americana e do Caribe, acessíveis de forma universal na Internet de modo compatível com as bases internacionais The hallmarks of the rare inherited disorder Fanconi anemia (FA) are progressive bone marrow failure and susceptibility to cancer. The former is the major cause of death for patients with FA, as it usually occurs earlier in life than cancer development. Mohammed Zarhrate, Isabelle Radford-Weiss, Serge P. Romana, Capucine Picard, Alain. Subsequently, several studies reported somatic mutations in RUNX1 in patients with primary MDS, therapy-related MDS, and AML from progression of MDS. 111-118 RUNX1 mutations also occur in ∼20% of Fanconi anemia and 64% of congenital neutropenia (CN) patients who develop MDS. 119,120 RUNX1 mutations in MDS are distributed throughout the gene.

pigmentosum, Fanconi anemia, and Lynch syndrome/Muir-Torre syndrome [36]. 4. Clinical Features The clinical features of cSCC are extremely polymorphous, and they depend also on the anatomical site and subtype. 4.1. Bowen's Disease (BD) BD, also known as in situ cSCC, is mostly characterized by a red, sharply demarcated, scaly plaque Hemolytic anemia (PCN, NSAID, ceph), TCP (Heparin), Neutropenia (PTU) Fanconi's, cystinosis, galactosemia, tyrosinemia, Wilson's, Lowe, hereditary fructose intolerance. Type 4 RTA. Most common, low aldosterone (or resistance to), adrenal insufficiency, CAH, obstructive uropathy Romana sign, LAD, can lead to hear block and achalasia if. Tumor Onset in Fanconi Anemia Mice. Qing-Shuo Zhang, Laura Eaton, Eric R. Snyder, Scott Houghtaling, James B. Mitchell, Milton Finegold, Carter Van Waes, and Markus Grompe.....1601 Corrections Correction: Ada3 Requirement for ER-Dependen Dr. Erich M. Sturgis is a ENT-Otolaryngologist in Houston, TX. Find Dr. Sturgis's phone number, address, insurance information, hospital affiliations and more Congenital (Wiskott-Aldrich syndrome, TAR syndrome, Fanconi anemia) Acquired (aplastic anemia, bone marrow disease, Vitamin B12- or folic acid deficiency) Shortened life expectancy: Antibody response (transfusion incident, hemolytic disease of the newborn, idiopathic thrombocytopenic purpura) Coagulation (heparin-induced thrombocytopenia type II

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Levran O, Diotti R, Pujara K, Batish SD, Hanenberg H, Auerbach AD: Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. Hum Mutat. 2005, 25: 142-149. 10.1002/humu.20125. CAS Article PubMed Google Scholar 48 Oncology 91%. Key Factor Analysis. Journal Impact IF Ranking. · In the Hematology research field, the Quartile of Blood Reviews is Q1. Blood Reviews has been ranked #7 over 123 related journals in the Hematology research category. The ranking percentile of Blood Reviews is around 94% in the field of Hematology

Gene therapies are classified into two major categories, namely, in vivo and ex vivo. Clinical trials of human gene therapy began with the ex vivo techniques. Based on the initial successes of gene-therapy clinical trials, these approaches have spread worldwide. The number of gene therapy trials approved worldwide increased gradually starting in 1989, reaching 116 protocols per year in 1999. Sickle cell disease (SCD) affects millions of individuals worldwide, including about 100,000 Americans [1,2]. It is an autosomal-recessive disorder in which a single nucleotide mutation of the beta-globin gene causes the deoxygenated form of hemoglobin to polymerize. This results in rigid, sickle-shaped red blood cells that aggregate and occlude microvasculature

Sickle Cell Anemia, a Molecular Disease is a 1949 scientific paper by Linus Pauling, Harvey A. Itano, Seymour J. Singer and Ibert C. Wells that established sickle-cell anemia as a genetic disease in which affected individuals have a different form of the metalloprotein hemoglobin in their blood Serum alpha fetoprotein levels in Fanconi anaemia. Br J Haematol. 2019;184:1074-1076. PubMed BERGER G, van den Berg E, Smetsers S, Leegte BK, et al Fanconi anaemia presenting as acute myeloid leukaemia and myelodysplastic syndrome in adulthood: a family report on co-occurring FANCC and CHEK2 mutations. Br J Haematol. 2019;184:1071-1073. PubMe Exames que confirmam a anemia - Tua Saúde. Para diagnosticar a anemia é necessário fazer um exame de sangue para avaliar a quantidade de glóbulos vermelhos e hemoglobina, sendo normalmente indicativo de anemia quando os valores de hemoglobina estão abaixo de 12 g/dL no caso das mulheres e 14 g/dL no caso dos homens Fanconi anemia 113. Felty syndrome 114. Fick principle 115. Fitz-Hugh/Curtis syndrome 116. Friedreich ataxia 117. Galant reflex 118. Great vein of Galen 119. Gardner syndrome 120. Gartner duct 121. Gaucher disease 122. Gaussian distribution 123. Ghon complex 124. Giemsa stain 125. Gilbert syndrome 126. Gitelman syndrome 127. Glanzmann. The following article is from The Great Soviet Encyclopedia (1979). It might be outdated or ideologically biased. Lindsay, Jack Born Oct. 28, 1900, in Melbourne, Australia. English writer, scholar, and public figure. Lindsay moved to Great Britain in 1926 and joined the Communist Party of Great Britain in 1941. In the historical novels 1649 (1938), Men.

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Characterization of medulloblastoma in Fanconi Anemia: A

Myocardial infarction (MI) is associated with damage to the myocardium which results in a great loss of functional cardiomyocytes. As one of the most terminally differentiated organs, the endogenous regenerative potentials of adult hearts are extremely limited and insufficient to compensate for the myocardial loss occurring after MI. Consequentially, exogenous regenerative strategies. HEF, also referred to as FANC-M, is a 250 kDa protein that is associated with the genetic disorder of Fanconi Anemia. HIP (HEF Interacting Protein) is a novel 24 KDa protein interacting with HEF/FANC-M. We showed that HIP forms a complex with HEF/FANC-M both in vitro and in vivo and that it is part of the Fanconi Anemia core complex

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(PDF) 2D-DIGE approach to study the dynamics of Fanconi

Loss of UNC-84 leads to defects in the loading and disassembly of the recombinase RAD-51. Similar to mutations in Fanconi anemia (FA) genes, unc-84 mutants and human cells depleted of Sun-1 are sensitive to DNA cross-linking agents, and sensitivity is rescued by the inactivation of nonhomologous end joining (NHEJ) Effective CRISPR/Cas9-mediated correction of a Fanconi anemia defect by error-prone end joining or templated repair. One-step genetic correction of hemoglobin E/beta-thalassemia patient-derived... One-step genetic correction of hemoglobin E/beta-thalassemia patient-derived iPSCs by the CRISPR/Cas9 system Slide 2: Thrombotic thrombocytopenic purpura or (TTP) is a rare, potentially fatal, and diffuse disorder resulting from occlusion of small Thrombotic Thrombocytopenic purpura and Clinica