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Rare anemias

Yuetian Yu, Cheng Zhu, Xiaozhe Qian, Yuan Gao
Invasive pulmonary aspergillosis (IPA) is commonly seen in immunocompromised patients, and tracheoesophageal fistula (TEF) induced by IPA is rare and seldom reported. Management of these critically ill patients is challenging and often requires a multidisciplinary approach. The authors reported an adult suffering from aplastic anemia who developed TEF caused by IPA. The diagnosis was confirmed following bronchoscopy and histopathological examination. Antifungal and bronchoscopic intervention provided a cure without any recurrence as yet...
September 2016: Annals of Translational Medicine
Thitiporn Junhasavasdikul, Nichanan Ruangwattanapaisarn, Sani Molagool, Chatmanee Lertudomphonwanit, Nongnuch Sirachainan, Noppadol Larbcharoensub
Immature gastric teratoma is an uncommon germ cell tumor of the stomach. We report a rare case of immature gastric teratoma in an infant with down syndrome with clinically presenting with hematemesis and severe anemia. Complete surgical resection remains the cornerstone of treatment.
October 2016: Clinical Case Reports
Nicholas E Mamrak, Akiko Shimamura, Niall G Howlett
Fanconi anemia (FA) is a rare autosomal and X-linked genetic disease characterized by congenital abnormalities, progressive bone marrow failure (BMF), and increased cancer risk during early adulthood. The median lifespan for FA patients is approximately 33years. The proteins encoded by the FA genes function together in the FA-BRCA pathway to repair DNA damage and to maintain genome stability. Within the past two years, five new FA genes have been identified-RAD51/FANCR, BRCA1/FANCS, UBE2T/FANCT, XRCC2/FANCU, and REV7/FANCV-bringing the total number of disease-causing genes to 21...
October 13, 2016: Blood Reviews
Achiya Zvi Amir, Gadi Horev, Joanne Yacobovich, Michael Bennett, Hannah Tamary
The congenital dyserythropoietic anemias (CDAs) are a group of rare genetic disorders characterized by ineffective erythropoiesis and the development of secondary hemochromatosis. Distal limb anomalies are a well-documented though rare feature of congenital dyserythropoietic anemia type I, that have not been reported so far in other types. We describe a patient with congenital dyserythropoietic anemia type II and four members of a family with clinical features of congenital dyserythropoietic anemia type III with distal limb anomalies...
October 19, 2016: American Journal of Medical Genetics. Part A
Sergio Pina-Oviedo, Carlos A Torres-Cabala, Roberto N Miranda, Michael T Tetzlaff, Selina Singh, Ronald P Rapini, Victor G Prieto, Phyu P Aung
Leukemia cutis develops in <4% of all acute leukemias. Concurrent acute myeloid leukemia (AML) and Langerhans cell histiocytosis (LCH) is rare, with most cases involving lymph nodes or spleen, and no cutaneous involvement. We report the case of a 59-year-old man who presented with fever, malaise, and fatigue. The CBC showed leukocytosis (30.4 × 10/L, 9% blasts), anemia, and thrombocytopenia. Bone marrow biopsy was diagnosed with AML, not otherwise specified, with mutations of FLT3 and IDH2 (R140Q). The patient developed skin rash on the right flank with the clinical differential diagnosis of herpes simplex virus or varicella-zoster virus infection/reactivation versus leukemia cutis...
October 18, 2016: American Journal of Dermatopathology
Radhey Shyam Chejara, C L Nawal, M K Agrawal, Pradeep Mittal, Abhishek Agrawal, Sujata Agarwal
Progressive Disseminated Histoplasmosis (PDH) is mainly described in immuno-compromised individuals and rare in immuno-competent subjects. Here we report a case of progressive disseminated histoplasmosis with Comb's positive hemolytic anemia, which is infrequently reported from a country like India where histoplasmosis is not an endemic mycosis.
July 2016: Journal of the Association of Physicians of India
Clémentine Sarkozy, Thierry Molina, Hervé Ghesquières, Anne-Sophie Michallet, Jehan Dupuis, Diane Damotte, Franck Morsschauser, Marie Parrens, Laurent Martin, Peggy Dartigues, Aspasia Stamatoullas, Pierre Hirsch, Betina Fabiani, Krimo Bouabdallah, Maria Gomes da Silva, Marie Maerevoet, Camille Laurent, Bertrand Coiffier, Gilles Salles, Alexandra Traverse-Glehen
Mediastinal grey zone lymphoma, B cell lymphomas with intermediate features between classical Hodgkin lymphoma and primary mediastinal B cell lymphoma, are not well described in the literature. We report the clinical characteristics and outcomes of a large retrospective series of 99 cases centrally reviewed by a panel of hematopathologists, with a consensus established for the diagnosis. Cases were defined as classical Hodgkin lymphoma-like morphology (64.6%) with primary mediastinal B cell lymphoma immunophenotype, primary mediastinal B cell lymphoma-like morphology (30...
October 6, 2016: Haematologica
Takaki Emura, Kenji Hosoda, Shota Harai, Noboru Oyachi, Takeyuki Suzuki, Ken Takada, Koji Kobayashi, Hisatake Ikeda
BACKGROUND: Massive gastrointestinal bleeding in children, mostly caused by esophageal varices secondary to chronic liver disease, is uncommon. Dieulafoy lesion in the gastrointestinal tract is a rare but important cause of gastrointestinal bleeding; massive bleeding from this lesion can be fatal unless adequate treatment is promptly initiated. We report a case of gastric Dieulafoy lesion in a 2-year old successfully treated with endoscopic hemoclipping. CASE PRESENTATION: A 2-year-old Japanese boy was admitted to our department with sudden massive hematemesis...
October 19, 2016: Journal of Medical Case Reports
Mohammad Ashkan Moslehi, Mohammad Hadi Imanieh, Ali Adib
Foreign body aspiration (FBA) is a common incidence in young children. Leeches are rarely reported as FBA at any age. This study describes a 15-year-old female who presented with hemoptysis, hematemesis, coughs, melena, and anemia seven months prior to admission. Chest X-ray showed a round hyperdensity in the right lower lobe. A chest computed tomography (CT) demonstrated an area of consolidation and surrounding ground glass opacities in the right lower lobe. Hematological investigations revealed anemia. Finally, bronchoscopy was performed and a 5 cm leech was found within the right B7-8 bronchus and removed by forceps and a Dormia basket...
2016: Case Reports in Pediatrics
Sevgi Kalayoğlu Beşışık, İpek Yönal Hindilerden, Fehmi Hindilerden, Doğan İbrahim Öner, Fatih Beşışık
No abstract text is available yet for this article.
October 18, 2016: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
Filiz Kizilirmak, Gultekin Gunhan Demir, Beytullah Cakal, Hüseyin Saffet Bekoz, Fatih Erkam Olgun
Evans syndrome (ES) is a rare hematological disease characterized by autoimmune hemolytic anemia, immune thrombocytopenia, and/or neutropenia, all of which may be seen simultaneously or subsequently. Thrombotic events in ES are uncommon. Furthermore, non-ST segment-elevation myocardial infarction (NSTEMI) during ES is a very rare condition. Here, we describe a case of a 69-year-old female patient presenting with NSTEMI and ES. Revascularization via percutaneous coronary intervention (PCI) was scheduled and performed...
September 2016: Indian Heart Journal
Abhijeet V Naik, Parag S Bhalgat, Nilesh S Bhadane, Suresh V Joshi
Hemolytic anemia following a mitral valve repair is a very rare complication, with only 70 cases reported worldwide. We present a case of an 8-year-old girl who presented with a very early onset hemolytic anemia following a mitral valve repair with ring annuloplasty, which necessitated a reoperation. The report also discusses the various mechanisms of traumatic hemolysis associated with valve repair and probable lessons learnt and ways to avoid this complication.
September 2016: Indian Heart Journal
Adrien Flahault, Marguerite Vignon, Marion Rabant, Aurélie Hummel, Laure-Hélène Noël, Danielle Canioni, Bertrand Knebelmann, Felipe Suarez, Khalil El Karoui
INTRODUCTION: We report the case of a multicentric Castleman disease (MCD) with initial renal involvement. Although the renal involvement in this case was typical of MCD, it constitutes a rare presentation of the disease, and in our case the renal manifestations led to the haematological diagnosis. CLINICAL FINDINGS/PATIENT CONCERNS: The patient was admitted for fever, diarrhea, anasarca, lymphadenopathies and acute renal failure. Despite intravenous rehydration using saline and albumin, renal function worsened and the patient required dialysis...
October 2016: Medicine (Baltimore)
Yamini Addepalli
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Yoshiko Murakami
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired GPI deficiency caused by somatic mutation of the PIGA gene in one or several hematopoietic stem cells. Recently, PNH caused by somatic mutation of one allele of the PIGT gene in combination with a germline mutation of the other allele was reported, showing that PIGA is not the only gene responsible for PNH, though other causes are rare. These mutant cells become GPI deficient, expand clonally and differentiate into all of the hematopoietic lineages. When GPI deficient erythrocytes increase in proportion, massive hemolysis occurs due to activated complement attack during infection...
2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
Anne-Sylvia Sacri, Annelyse Bruwier, Geneviève Baujat, Sylvain Breton, Stéphane Blanche, Tracy A Briggs, Brigitte Bader-Meunier
Childhood-onset chronic and refractory cytopenias are rare and may be genetic in etiology. We report three pediatric cases of severe autoimmune thrombocytopenia or anemia associated with growth retardation and spastic diplegia with intracranial calcification. The identification of platyspondyly and metaphyseal lesions suggested a potential diagnosis of spondyloenchondrodysplasia (SPENCD), which was confirmed with the identification of biallelic ACP5 mutations. Two patients demonstrated elevated serum interferon alpha levels...
October 8, 2016: Pediatric Blood & Cancer
Georgios C Pratilas, Panagiotis Chatzis, Nikolaos Panteleris, Kimon Chatzistamatiou, Leonidas Zeipiridis, Konstantinos Dinas
A woman presented at the gynecological emergency clinic with severe lower abdominal pain. Even though she reported normal menses and had no risk factors for ectopic pregnancy, pregnancy test was positive and vaginal sonogram indicated heterotopic pregnancy at 12 weeks of gestation, with rupture of the ectopic pregnancy. Laboratory results indicated significant blood loss, and emergency laparotomy with salpingo-ophorectomy was performed. The intrauterine pregnancy continued uneventfully. Interestingly, the previous month the patient had also undergone investigation for vague abdominal pain and anemia...
October 8, 2016: Journal of Obstetrics and Gynaecology Research
Ulla Derhaschnig, Jim Gilbert, Ulrich Jäger, Georg Böhmig, Georg Stingl, Bernd Jilma
BACKGROUND: Innovative trial designs are sought to streamline drug development in rare diseases. Basket- and integrated protocol designs are two of these new strategies and have been applied in a handful oncologic trials. We have taken the concept outside the realm of oncology and report about a first-in-human integrated protocol design that facilitates the transition from phase Ia in healthy volunteers to phase Ib in patients with rare complement-mediated disorders driven by the classical pathway...
October 4, 2016: Orphanet Journal of Rare Diseases
Carolien Zwiers, Irene T M Lindenburg, Frans J C M Klumper, Masja de Haas, Dick Oepkes, Inge L van Kamp
BACKGROUND: maternal alloimmunization to fetal red blood cell antigens is a major cause of fetal anemia, which in untreated cases can lead to hydrops and perinatal death. The cornerstone of the management during pregnancy is intrauterine intravascular blood transfusion. Although this procedure is considered to be relatively safe, (procedure-related) complications continue to occur. OBJECTIVES: to evaluate procedure-related complications and perinatal loss rates of intrauterine transfusion and changes over time, aiming to identify factors leading to improved outcome...
October 5, 2016: Ultrasound in Obstetrics & Gynecology
Di Yan, Christian Domes, Robert Domes, Timea Frosch, Jürgen Popp, Mathias W Pletz, Torsten Frosch
Fiber enhanced resonance Raman spectroscopy (FERS) is introduced for chemically selective and ultrasensitive analysis of the biomolecules hematin, hemoglobin, biliverdin, and bilirubin. The abilities for analyzing whole intact, oxygenated erythrocytes are proven, demonstrating the potential for the diagnosis of red blood cell related diseases, such as different types of anemia and hemolytic disorders. The optical fiber enables an efficient light-guiding within a miniaturized sample volume of only a few micro-liters and provides a tremendously improved analytical sensitivity (LODs of 0...
October 17, 2016: Analyst
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