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Microcytic anemia

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https://www.readbyqxmd.com/read/28725309/cronkhite-canada-syndrome-a-rare-cause-of-chronic-diarrhea
#1
Umair Iqbal, Ahmad Chaudhary, Muhammad Arsalan Karim, Hafsa Anwar, Nancy Merrell
Cronkhite-Canada syndrome (CCS) is a rare non-hereditary disease characterized by chronic diarrhea, diffuse intestinal polyposis and onychodystrophy. We present here a case of a middle-aged female who presented with chronic intermittent bloody diarrhea associated alopecia and loss of finger and toe nails. Labs were remarkable for microcytic anemia and severe hypoalbuminemia. Endoscopy showed numerous polyps scattered throughout the colon. She was treated with nutritional support and corticosteroid with complete resolution of her symptoms and endoscopic findings...
June 2017: Gastroenterology Research
https://www.readbyqxmd.com/read/28713604/metastatic-renal-cell-carcinoma-presenting-as-gastric-ulcer-case-report-and-literature-review
#2
Alhareth Al Juboori, Satinder Kaur, Atigadda Reddy
Renal cell carcinoma (RCC) accounts for approximately 3% of all adult malignancies. True gastrointestinal metastases, specifically to gastric wall, have been rarely observed. Herein we describe a case of delayed metastasis to gastric wall occurring more than a decade after previously curative nephrectomy for RCC. A 67-year-old male with history of right radical nephrectomy in 2001 for RCC was found to have an asymptomatic right lower lobe solitary lung mass upon routine follow-up in 2011, with final biopsy results showing metastatic RCC for which he was treated accordingly...
2017: Case Reports in Gastrointestinal Medicine
https://www.readbyqxmd.com/read/28706428/appropriateness-of-the-study-of-iron-deficiency-anemia-prior-to-referral-for-small-bowel-evaluation-at-a-tertiary-center
#3
Jaime Pereira Rodrigues, Rolando Pinho, Joana Silva, Ana Ponte, Mafalda Sousa, João Carlos Silva, João Carvalho
AIM: To evaluate the adequacy of the study of iron deficiency anemia (IDA) in real life practice prior to referral to a gastroenterology department for small bowel evaluation. METHODS: All consecutive patients referred to a gastroenterology department for small bowel investigation due to iron deficiency anemia, between January 2013 and December 2015 were included. Both patients referred from general practitioners or directly from different hospital departments were selected...
June 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28667034/a-novel-alas2-mutation-resulting-in-variable-phenotypes-and-pyridoxine-response-in-a-family-with-x-linked-sideroblastic-anemia
#4
Jee-Soo Lee, JaYoon Gu, Hyun Ju Yoo, Youngil Koh, Hyun Kyung Kim
We report a novel ALAS2 gene mutation c.1315A>G (p.Lys439Glu) identified in a family, which caused evidently different hematologic phenotypes. The proband was a 17-year-old man with severe microcytic hypochromic anemia, excessive ring sideroblasts in the bone marrow, and iron overload. A hemizygous ALAS2 mutation in exon 9, c.1315A>G (p.Lys439Glu), was identified through sequence analysis. We assume that this amino acid substitution affects the enzymatic activity of ALAS2 by affecting its interaction with the cofactor pyridoxal 5'-phosphate, since the patient was responsive to pyridoxine treatment...
May 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28655990/clostridium-septicum-aortitis-with-synchronous-ascending-colon-and-rectal-adenocarcinoma
#5
Deepanshu Jain, Andrew C Kistler, Patricia Kozuch
Clostridium septicum (C. septicum) aortitis is a rare condition frequently associated with colon adenocarcinoma and carries a poor prognosis. We report the case of a 66-year-old man who presented with abdominal pain, blood in the stool, fever and chills. Laboratory tests were significant for leukocytosis and microcytic anemia. Abdominal imaging revealed a right colon mass and aortitis. Colonoscopy confirmed the right colon mass and also discovered a rectal mass, both adenocarcinomas. Treatment consisted of antibiotics, aortic repair, right hemi-colectomy and later trans-anal excision of the rectal mass...
2017: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/28615875/haematological-and-biochemical-indicators-of-tropical-theileriosis-diseased-cattle-in-wilaya-of-s%C3%A3-tif-north-east-algeria
#6
Ouarda Ayadi, Mohamed Gharbi, Mohammed Cherif Benchikh-Elfegoun
The authors investigated biochemical and haematological parameters in 40 healthy and 40 tropical theileriosis (Theileria annulata) clinically infected cattle in El Eulma region (North East Algeria). The mean haematological and biochemical parameters including the number of erythrocytes, haemoglobin, haematocrit, mean corpuscular volume, mean corpuscular haemoglobin concentration and mean corpuscular haemoglobin were estimated. The mean hematological and biochemical parameters including the number of leukocytes, erythrocytes, hemoglobin, hematocrit, glucose, albumin, total proteins decreased significantly (p = 0...
June 2017: Journal of Parasitic Diseases: Official Organ of the Indian Society for Parasitology
https://www.readbyqxmd.com/read/28597705/evaluation-of-applying-a-combination-of-red-cell-indexes-and-formulas-to-differentiate-%C3%AE-thalassemia-trait-from-iron-deficiency-anemia-in-the-thai-population
#7
Sakorn Pornprasert, Choosak Thongsat, Uraiporn Panyachadporn
Red cell indexes and formulas have been established as simple, fast, and inexpensive tools to differentiate β-thalassemia (β-thal) trait from iron deficiency anemia. However, none of them showed 100.0% sensitivity and specificity. Moreover, one index may show greater sensitivity and specificity in one population but is ineffective in another population. This study evaluated the diagnostic reliability of a combination of two red cell indexes [red blood cell (RBC) and red blood cell distribution width (RDW)] and nine formulas called '11T score' for differentiation of β-thal trait and iron deficiency anemia in the Thai population...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28589785/revisiting-beta-thalassemia-intermedia-past-present-and-future-prospects
#8
Naouel Ben Salah, Rayan Bou-Fakhredin, Fethi Mellouli, Ali T Taher
BACKGROUND: The spectrum of thalassemias is wide ranging from thalassemia minor, which consists of mild hypochromic microcytic anemia without obvious clinical manifestations, to thalassemia major (TM), which is characterized by severe anemia since the first years of life and is transfusion dependent. Thalassemia intermedia (TI) describes those patients with mild or moderate anemia. OBJECTIVE: To describe the genetic features and major clinical complications of TI, and the therapeutic approaches available in the management of this disease...
June 7, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28580156/castleman-s-disease-with-tafro-syndrome-a-case-report-from-syria
#9
Sami Alhoulaiby, Basel Ahmad, Ali Alrstom, Mayssoun Kudsi
Castleman's disease is a rare disorder, yet a rarer newly described syndrome called TAFRO syndrome was discovered to accompany it. TAFRO represents the constellation of symptoms (Thrombocytopenia, Anasarca, MyeloFibrosis, Renal failure, Organomegaly). Most cases were described in Japan. We present the first case of TAFRO syndrome in Syria. A 58-year-old Caucasian male with no relevant history presented with fatigue, oliguria, decreased platelets, increased creatinine level, hepatosplenomegaly, ascites, pitting edema and lymph node enlargement...
June 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28531196/co-inheritance-of-glucose-6-phosphate-dehydrogenase-deficiency-mutations-and-hemoglobin-e-in-a-kachin-population-in-a-malaria-endemic-region-of-southeast-asia
#10
Zeshuai Deng, Fang Yang, Yao Bai, Lijun He, Qing Li, Yanrui Wu, Lan Luo, Hong Li, Limei Ma, Zhaoqing Yang, Yongshu He, Liwang Cui
Glucose-6-phosphate dehydrogenase (G6PD) deficiency and hemoglobin E (HbE, β26 Glu-Lys) are two common red cell disorders in Southeast Asia. G6PD deficiency produces hemolytic anemia, which can be triggered by certain drugs or infections. HbE is asymptomatic or is manifested as microcytic, minimally hemolytic anemia. The association between G6PD deficiency and HbE is little understood. This study aimed to investigate G6PD deficiency and HbE in a Kachin ethnic group in the China-Myanmar border area. G6PD enzyme activity was measured using a quantitative G6PD assay, G6PD variants genotyped by the SNaPshot assay, and an HbE gene mutation identified by an amplification refractory mutation system and subsequently confirmed by using a reverse dot blot hybridization assay from 100 unrelated individuals in the study area...
2017: PloS One
https://www.readbyqxmd.com/read/28496538/iron-pill-gastritis-an-under-diagnosed-condition-with-potentially-serious-outcomes
#11
Tagore Sunkara, Megan E Caughey, Sofia Nigar, Raquel Olivo, Vinaya Gaduputi
Given the ubiquitous use of oral iron therapy, their side effects are often encountered and well recognized in clinical practice. However, iron pill gastritis remains an often under-reported and elusive diagnosis. An astute clinician should be aware of this condition in order to promptly discontinue oral iron and institute timely treatment. Here in, we present a case of a 46-year-old woman who presented to the gastroenterology clinic with vague epigastric pain and microcytic anemia. Esophagogastroduodenoscopy revealed multiple gastric erosions and non-bleeding gastric antral ulcer with biopsies showing excessive iron deposition suggestive of iron pill gastritis...
April 2017: Gastroenterology Research
https://www.readbyqxmd.com/read/28495915/extracellular-glycine-is-necessary-for-optimal-hemoglobinization-of-erythroid-cells
#12
Daniel Garcia-Santos, Matthias Schranzhofer, Richard Bergeron, Alex D Sheftel, Prem Ponka
Vertebrate heme synthesis requires three substrates: succinyl-CoA, which regenerates in the tricarboxylic acid cycle, iron and glycine. For each heme molecule synthesized, one atom of iron and eight molecules of glycine are needed. Inadequate delivery of iron to immature erythroid cells leads to a decreased production of heme, but virtually nothing is known about the consequence of an insufficient supply of extracellular glycine on the process of hemoglobinization. To address this issue, we exploited mice in which the gene encoding glycine transporter 1 (GlyT1) was disrupted...
May 11, 2017: Haematologica
https://www.readbyqxmd.com/read/28491880/iron-refractory-iron-deficiency-anemia-in-dizygotic-twins-due-to-a-novel-tmprss6-gene-mutation-in-addition-to-polymorphisms-associated-with-high-susceptibility-to-develop-ferropenic-anemia
#13
Joana Pinto, Gustavo Nobre de Jesus, Mónica Palma Anselmo, Lúcia Gonçalves, Daniela Brás, João Madeira Lopes, João Meneses, Rui Victorino, Paula Faustino
Iron refractory iron deficiency anemia (IRIDA) is an autosomal recessive ferropenic anemia. Its hypochromic microcytic pattern is associated with low transferrin saturation, normal-high ferritin, and inappropriately high hepcidin level. This entity is caused by mutants of the TMPRSS6 gene that encodes the protein matriptase II, which influences hepcidin expression, an iron metabolism counterregulatory protein. We report two 29-year-old dizygotic female twins with ferropenic, hypochromic microcytic anemia with 20 years of evolution, refractory to oral iron therapy...
April 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28458927/papillary-fibroelastoma-as-a-cause-of-cardiogenic-embolic-stroke-in-a-%C3%AE-thalassemia-patient-case-report-and-literature-review
#14
Re-I Chin, John J Monda, Maulik Sheth, William Ogle, Gloria Merenda, Debapriya De
We describe a case of a young male without stroke risk factors who presented with a sudden onset of left-sided weakness, left hand numbness, and left eye blurriness. CT scan of the head without contrast and diffusion-weighted MRI of the brain with contrast revealed an ischemic stroke in the right middle cerebral artery distribution. Transesophageal echocardiography (TEE) revealed a mobile pedunculated mass on the posterior surface of the mitral valve. This mass was resected and pathology showed a cardiac papillary fibroelastoma (CPFE), which was determined to be the cause of the patient's cardioembolic stroke...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28453928/the-clinical-severity-of-hemoglobin-s-black-a-%C3%AE-%C3%AE-%C3%AE-0-thalassemia
#15
Maria I Cancio, Banu Aygun, David H K Chui, Jennifer A Rothman, J Paul Scott, Jeremie H Estepp, Jane S Hankins
Hemoglobin S/Black ((A) γδβ)(0) -thalassemia is a rare sickle cell disease (SCD) variant. On the basis of limited descriptions in the literature, the disease is reported as a mild microcytic anemia with an uncomplicated course. We report the clinical and laboratory data of nine patients whose diagnoses were confirmed by DNA-based techniques. Despite having mild anemia and high fetal hemoglobin level postinfancy, these patients developed many of the classic complications of SCD, including vaso-occlusive crisis, acute chest syndrome, avascular necrosis, and cholelithiasis...
April 28, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28447549/a-child-with-severe-iron-deficiency-anemia-and-a-complex-tmprss6-genotype
#16
Anna Paola Capra, Elisa Ferro, Laura Cannavò, Maria Angela La Rosa, Giuseppina Zirilli
OBJECTIVES: We report a case of a 7-year-old girl with severe hypochromic microcytic anemia, who was unresponsive to classical iron supplements. We suspected IRIDA, iron-refractory iron-deficiency anemia, a genetic iron metabolism disorder, caused by TMPRSS6 variations. TMPRSS6 encodes matriptase-2, a negative regulator of hepcidin, and its pathological variants are related to normal to high levels of hepcidin. We analyzed the TMPRSS6 gene and we improved clinical management of the patient, selecting the appropriate supplementation therapy...
April 27, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28425258/assessment-of-developmental-and-radiological-long-term-outcomeof-children-with-surgically-treated-midgut-volvulus
#17
Ahmet Murat Çakmak, Özlem Boybeyi Türer, Gülnur Göllü Bahadir, Bilge Türedi, Ufuk Ateş, Adalet Elçin Yildiz, Gönül Küçük, Ömer Suat Fitöz, Betül Ulukol, Mustafa Kemal Aslan, Tutku Soyer, Hüseyin Dindar
BACKGROUND/AIM: The aim is to evaluate the long-term outcome of asymptomatic patients who underwent surgical correction for midgut volvulus. MATERIALS AND METHODS: Seven patients managed surgically for midgut volvulus in the last 3 years were included. Demographic features, symptoms at presentation, diagnoses, surgical procedures, and complications were recorded. Patients were then contacted for follow-up and evaluation of long-term outcomes. General physical conditions, anthropometric parameters, feeding habits, and defecation histories were evaluated...
April 18, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28400547/anemia-in-thyroid-diseases
#18
Ewelina Szczepanek-Parulska, Aleksandra Hernik, Marek Ruchała
Anemia is a frequent, although often underestimated, clinical condition accompanying thyroid diseases. Despite the fact that anemia and thyroid dysfunction often occur simultaneously, the causative relationship between the disorders remains ambiguous. Thyroid hormones stimulate the proliferation of erythrocyte precursors both directly and via erythropoietin production enhancement, while iron-deficient anemia negatively influences thyroid hormone status. Thus, different forms of anemia might develop in the course of thyroid dysfunction...
May 31, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/28375153/pcbp1-and-ncoa4-regulate-erythroid-iron-storage-and-heme-biosynthesis
#19
Moon-Suhn Ryu, Deliang Zhang, Olga Protchenko, Minoo Shakoury-Elizeh, Caroline C Philpott
Developing erythrocytes take up exceptionally large amounts of iron, which must be transferred to mitochondria for incorporation into heme. This massive iron flux must be precisely controlled to permit the coordinated synthesis of heme and hemoglobin while avoiding the toxic effects of chemically reactive iron. In cultured animal cells, iron chaperones poly rC-binding protein 1 (PCBP1) and PCBP2 deliver iron to ferritin, the sole cytosolic iron storage protein, and nuclear receptor coactivator 4 (NCOA4) mediates the autophagic turnover of ferritin...
May 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28367656/prevalence-of-anemia-and-hemoglobin-disorders-among-school-children-in-myanmar
#20
Saw Thu Wah, Yoon Shwe Yi, Aye Aye Khin, Chotiros Plabplueng, Pornlada Nuchnoi
The prevalence of anemia is high in the population of Myanmar and hypochromic microcytic anemia (HMA) is predominant. The objective of our study was to determine the prevalence of anemia and causes of HMA among school children. A cross-sectional study was conducted on 239 children from Thanlyin and Insein Townships, Yangon Region, Myanmar. Complete blood count (CBC) and blood film morphology was examined on venous blood samples. Hypochromic microcytic anemia cases were subsequently analyzed for serum ferritin and cellulose acetate hemoglobin (Hb) electrophoresis...
January 2017: Hemoglobin
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