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https://www.readbyqxmd.com/read/29350304/defective-mitochondrial-atpase-due-to-rare-mtdna-m-8969g-a-mutation-causing-lactic-acidosis-intellectual-disability-and-poor-growth
#1
Pirjo Isohanni, Christopher J Carroll, Christopher B Jackson, Max Pohjanpelto, Tuula Lönnqvist, Anu Suomalainen
Mutations in mitochondrial ATP synthase 6 (MT-ATP6) are a frequent cause of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) or Leigh syndromes, especially a point mutation at nucleotide position 8993. M.8969G>A is a rare MT-ATP6 mutation, previously reported only in three individuals, causing multisystem disorders with mitochondrial myopathy, lactic acidosis, and sideroblastic anemia or IgA nephropathy. We present two siblings with the m.8969G>A mutation and a novel, substantially milder phenotype with lactic acidosis, poor growth, and intellectual disability...
January 19, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29343274/coexistent-sickle-cell-anemia-and-autoimmune-disease-in-eight-children-pitfalls-and-challenges
#2
Valerie Li-Thiao-Te, Florence Uettwiller, Pierre Quartier, Florence Lacaille, Brigitte Bader-Meunier, Valentine Brousse, Mariane de Montalembert
BACKGROUND: Patients with sickle cell disease (SCD) present a defective activation of the alternate complement pathway that increases the risk of infection and is thought to predispose to autoimmune disease (AID). However, coexisting AID and SCD is rarely reported, suggesting possible underdiagnosis due to an overlapping of the symptoms. STUDY DESIGN: Among 603 patients with SCD followed between 1999 and June 2016, we retrospectively searched for patients with coexisting SCD and AID...
January 17, 2018: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/29340523/a-case-of-severe-glutathione-synthetase-deficiency-with-novel-gss-mutations
#3
H Xia, J Ye, L Wang, J Zhu, Z He
Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. The severe form of the disease is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. A case of a male newborn infant who had severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia is reported. A high level of 5-oxoproline was detected in his urine and a diagnosis of generalized GSSD was made...
January 11, 2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29340125/rare-presentation-of-refractory-thrombotic-thrombocytopenic-purpura-jejunal-stricture
#4
Prabath K Abeysundara, Inoshi Athukorala, K P C Dalpatadu, Karthiha Balendran, M D S A Dilrukshi, Gmo Fernando
Thrombotic thrombocytopenic purpura is a rare thrombotic disease characterized by episodes of thrombocytopenia and microangiopathic hemolytic anemia due to disseminated microvascular thrombosis. Thrombotic thrombocytopenic purpura was first described in 1924 by Moschowitz as a disease presenting with a pentad of signs and symptoms (anemia, thrombocytopenia, fever, hemiparesis and hematuria). Previous studies have described atypical manifestations of thrombotic thrombocytopenic purpura such as hemolysis, anemia and thrombosis...
October 1, 2017: International Journal of Hematology-oncology and Stem Cell Research
https://www.readbyqxmd.com/read/29337599/pearson-syndrome
#5
Piero Farruggia, Floriana Di Marco, Carlo Dufour
Pearson syndrome (PS) is a sporadic and very rare syndrome classically associated with single large-scale deletions of mitochondrial DNA and characterized by refractory sideroblastic anemia during infancy. Areas covered: This review presents an analysis and interpretation of the published data that forms the basis for our understanding of PS. PubMed, Google Scholarand Thompson ISI Web of Knowledge were searched for relevant data. Expert Commentary: PS is a very rare mitochodrial disease that involves different organs and systems...
January 16, 2018: Expert Review of Hematology
https://www.readbyqxmd.com/read/29335010/acute-intestinal-obstruction-due-to-extrinsic-compression-by-previa-myoma-and-ectopic-pregnancy-a-case-report
#6
Harissou Adamou, Ibrahim Amadou Magagi, Souleymane Oumarou Garba, Oumarou Habou
BACKGROUND: Acute intestinal obstruction during pregnancy is a rare digestive surgical emergency with significant maternal and fetal mortality. Diagnosis is difficult, often delaying the management. Here, we report an exceptional association of mechanical acute intestinal obstruction due to compression by previa uterine leiomyoma, and a ruptured ectopic pregnancy. CASE PRESENTATION: This is the case report of a 43-year-old primiparous black woman from a rural area, who was admitted to the surgical emergency department for acute intestinal obstruction...
January 16, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29333427/surgery-of-multiple-lymphangioma-in-small-bowel-a-rare-case-report-of-chronic-gastrointestinal-bleeding
#7
Dae Ro Lim, Jung Cheol Kuk, Taehyung Kim, Eung Jin Shin
Small bowel lymphangioma is a rare benign tumor of the lymphatic system, characterized by the presence of dilated lymphatic spaces and significant gastrointestinal bleeding. Small bowel lymphangiomas are rare in adults and case reports are few. Lymphangiomas in the jejunum or ileum are extremely rare and account for less than 1% of all lymphangiomas. The case reported herein is of an older patient (70-year-old male) with melena and chronic anemia (hemoglobin count < 5 g/dL) who had small-sized multiple lymphangiomas in his small bowel (jejunum)...
January 2018: Annals of Surgical Treatment and Research
https://www.readbyqxmd.com/read/29327715/de-novo-pure-erythroid-leukemia-refining-the-clinicopathologic-and-cytogenetic-characteristics-of-a-rare-entity
#8
Erica F Reinig, Patricia T Greipp, April Chiu, Matthew T Howard, Kaaren K Reichard
Per the revised fourth edition World Health Organization classification of acute myeloid leukemia, pure erythroid leukemia is now the sole type of acute erythroid leukemia. The diagnosis of this rare entity is often challenging and the cytologic overlap with non-neoplastic (eg, megaloblastic anemia) and neoplastic entities (eg, other types of acute leukemia and non-hematopoietic malignancies) warrants a significant degree of clinical, laboratory, immunophenotypic, and genetic investigation. Given the limited number of reports of this rare and diagnostically challenging entity, we report detailed clinicopathologic characteristics from 15 patients, the largest series thus far, of primary de novo pure erythroid leukemia to provide further diagnostic insights into this entity and reveal strategies for making the diagnosis...
January 12, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29326826/collision-tumor-consisting-of-a-colorectal-adenocarcinoma-and-dissemination-of-a-gastric-adenocarcinoma
#9
Ryoichi Miyamoto, Kazunori Kikuchi, Atsushi Uchida, Masayoshi Ozawa, Akira Kemmochi, Naoki Sano, Sosuke Tadano, Satoshi Inagawa, Shinya Adachi, Masayoshi Yamamoto
Background: Collision tumors, composed of histologically distinct tumor types, are rare entities, especially in the colorectum, and corresponding evidence-based clinical management or treatment strategies are poorly defined. This is the first report of a collision tumor composed of two histologically distinct adenocarcinomas. Case presentation: A 78-year-old male showed severe anemia and a 10% body weight loss over 1 month. Preoperative examination revealed T3N1M0 stage IIIA gastric cancer and T3N0M0 stage IIA rectal cancer...
2018: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29325287/-the-diagnostic-value-and-limits-of-diagnostic-parameters-for-wilson-s-disease
#10
X Yang
Wilson disease (WD) is a rare and treatable genetic disorder. This paper describes the new advances and author's long-term experiences in the diagnosis of WD. The characteristics in clinical and routine tests are: the age of presentation can be quite broad, the WD could not be excluded based on age only; the patients usually have mild digestive symptoms but obvious chronic liver disease signs; liver function tests may reveal normal or a mild elevation in bilirubin, ALT and AST, but quite abnormal in serum albumin and prothrombin time in most patients; Coombs-negative hemolytic anemia, normal or markedly subnormal serum alkaline phosphatase (typically < 40 IU/L) are useful for the diagnosis of fulminant WD...
December 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/29319258/familial-lecithin-cholesterol-acyl-transferase-deficiency-with-chronic-kidney-disease
#11
N Gopalakrishnan, R Arul, J Dhanapriya, T Dinesh Kumar, R Sakthirajan, T Balasubramaniyan
Familial lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare autosomal recessive (AR) disease caused by mutation in the LCAT gene. LCAT enzyme esterifies cholesterol molecules in high-density lipoprotein(HDL) and low density-lipoprotein (LDL) particles. This enzyme deficiency is characterised by progressive corneal opacification, glomerulopathy, mild - moderate haemolytic anaemia and very low plasma levels of HDL. We here report a 34 year-old lady who presented with hypertension, nephrotic proteinuria, renal failure, corneal ring opacities, anemia and dyslipidemia...
October 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29317945/primary-jejunal-adenocarcinoma-presenting-as-bilateral-ovarian-metastasis
#12
Emmanuel Ofori, Daryl Ramai, Charilaos Papafragkakis, Kinesh Changela, Mahesh Krishnaiah
Small intestinal tumors are rare with adenocarcinoma of the small intestine accounting for less than 2% of all gastrointestinal cancers. Primary jejunal adenocarcinoma constitutes a minute portion of small intestine adenocarcinomas. Clinically, this cancer presents at latter stages of its progression, mainly due to vague and non-specific symptoms, and the difficulty encountered in accessing the jejunum on upper endoscopy. Diagnosis of jejunal adenocarcinoma is usually inconclusive with the use of computed tomography (CT) scan, small bowel series, or upper endoscopy...
December 2017: Gastroenterology Research
https://www.readbyqxmd.com/read/29317181/extramedullary-hematopoiesis-involving-the-thyroid-a-rare-cytologic-finding-in-otherwise-healthy-patients-and-review-of-literature
#13
I-Shiow Jan, Ming-Hsiang Weng, Chih-Yuan Wang, Tien-Chun Chang, Shyang-Rong Shih
BACKGROUND/PURPOSE: The thyroid gland is an uncommon site for the presence of extramedullary hematopoiesis (EMH). We report the cases of four Taiwanese women with hematopoietic elements on the smears of thyroid fine needle aspiration (FNA) samples and compare the findings with those of previously reported cases. METHODS: We retrieved the data of cases in which thyroid FNA performed between January 2000 and December 2016. The clinical manifestations, laboratory data, and image findings of cases with thyroid EMH were reported...
January 6, 2018: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/29316578/acute-hepatitis-as-a-prequel-to-very-severe-aplastic-anemia
#14
Christina Weiler-Normann, Johannes Hartl, Sören Weidemann, Ute-Marie von Pein, Walter Fiedler, Christoph Schramm, Florian Brinkert, Nicolaus Kröger, Maximilian Christopeit
Severe aplastic anemia is a rare and potentially life-threatening disease of the bone marrow often requiring allogeneic hematopoietic stem cell transplantation. Pathogenesis of the disease can vary and often remains enigmatic. Occasionally, severe aplastic anemia is associated with prior severe acute hepatitis. Differential diagnosis of acute non-viral hepatitis challenges the physician as pathogenesis remains unclear.We here present a case of a young patient presenting with acute hepatitis followed by severe aplastic anemia successfully treated with allogeneic hematopoietic stem cell transplantation...
January 2018: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/29316288/carboplatin-plus-pemetrexed-for-the-elderly-incurable-chemo-naive-nonsquamous-non-small-cell-lung-cancer-meta-analysis
#15
Masaru Ito, Nobuyuki Horita, Akimichi Nagashima, Takeshi Kaneko
AIM: In some developed countries, a proportion of nonsquamous non-small cell lung cancer (NSq NSCLC) patients are aged over 70 years when they are diagnosed. However, evidence of lung cancer chemotherapy usually comes from randomized controlled trials that only recruit younger patients with good performance status. In daily practice, less-toxic carboplatin + pemetrexed regimen is often used for elderly patients, although this regimen is not sufficiently supported by rigid evidence for elderly cases...
January 8, 2018: Asia-Pacific Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29313587/hereditary-haemorrhagic-telangiectasia-with-severe-anemia-and-recurrent-cns-infections
#16
Nrushen Peesapati, Pbpr Naidu, S Sunitha, P V Sivaram
Hereditary Haemorrhagic Telangiectasia, also known as Osler-Rendu-Weber disease is a rare autosomal dominant disorder affecting small vessels of multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Usually presents as skin and mucosal telangiectasias, epistaxis, gastrointestinal bleeding and visceral arteriovenous malformations. Although the epistaxis and gastrointestinal blood loss can result in anaemia, patients with hereditary haemorrhagic telangiectasia rarely presents as severe anaemia1 or CNS infections...
September 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29313508/evaluation-of-transfusion-practices-in-sickle-cell-disease-in-senegal-cohort-study-of-1078-patients-with-sickle-cell-disease
#17
M Seck, A Tall, B F Faye, D Sy Bah, Y Guéye, A Sall, A O Touré, S Diop
Blood transfusion is an essential therapeutic tool in the treatment of sickle cell disease. Its indications and modalities vary from one country to another as a function of the clinical severity of the disease and the availability of blood products. This study seeks to evaluate the frequency and modalities of blood transfusions as well as their indications in patients with sickle cell syndrome at the Dakar hematology department from 1995 through 2015. This retrospective study reviewed the records of a cohort of 1078 patients with SS, SC, Sβ0 and Sβ + thalassemia sickle cell syndromes and collected data about the type of blood products, indications, modalities, and acute transfusion complications...
November 1, 2017: Médecine et Santé Tropicales
https://www.readbyqxmd.com/read/29303050/is-there-a-difference-in-phenotype-between-males-and-females-with-non-transfusion-dependent-thalassemia-a-cross-sectional-evaluation
#18
Maria Marsella, Massimiliano Ammirabile, Tiziana Di Matola, Alessia Pepe, Silvia Costantini, Aldo Filosa, Paolo Ricchi
OBJECTIVES: Non-transfusion-dependent thalassemia includes a variety of phenotypes and genotypes that rarely require regular transfusions. However, these patients can experience a wide range of complications. The objective of this retrospective study was to verify whether there is a significant difference in non-transfusion-dependent thalassemia-related complications and treatment among males and females. METHODS: We performed a re-analysis of samples evaluated in a previously published cross-sectional study, regarding 96 non-transfusion-dependent thalassemia patients followed at the 'UOSD Malattie Rare del Globulo Rosso' Centre of the Cardarelli Hospital in Naples, Italy...
January 5, 2018: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29301129/amegakaryocytic-thrombocytopenia-and-subsequent-aplastic-anemia-associated-with-apparent-epstein-barr-virus-infection
#19
Ilana Levy, Ruth Laor, Nizar Jiries, Jacob Bejar, Aaron Polliack, Tamar Tadmor
Acquired amegakaryocytic thrombocytopenia (AAT), a rare entity characterized by severe thrombocytopenia and the absence of megakaryocytes in the bone marrow, may mimic or precede the diagnosis of aplastic anemia (AA). Here, we describe a patient who presented with apparent Epstein-Barr virus (EBV)-associated immune thrombocytopenia resistant to several lines of therapies, which was in fact a form of AAT with some features of AA. He eventually responded to therapy with eltrombopag, cyclosporine A (CSA), and antithymocyte globulin (ATG) and recovered completely...
January 5, 2018: Acta Haematologica
https://www.readbyqxmd.com/read/29299089/hamartoma-of-the-spleen-splenoma-with-calcifications-in-a-child-with-beta-thalassemia-a-case-report
#20
Dario Giambelluca, Dario Picone, Giuseppe Lo Re, Salvatore Pappalardo, Placido Romeo
Splenic hamartoma (or splenoma) is a rare, benign, vascular tumor, often incidentally found at imaging, surgery or autopsy. Albeit usually asymptomatic and rare in children, when it occurs in the pediatric population it is more commonly symptomatic. We report a case of a 15-year-old girl with iron-deficiency anemia and beta-thalassemia, who had a large (10 × 8 × 7 cm) splenic lesion with calcifications, incidentally found during follow-up for splenomegaly and histologically characterized as hamartoma with calcified areas...
May 2017: Journal of Radiology Case Reports
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