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Raphael Borie, Laure Tabèze, Gabriel Thabut, Hilario Nunes, Vincent Cottin, Sylvain Marchand-Adam, Grégoire Prevot, Abdellatif Tazi, Jacques Cadranel, Herve Mal, Lidwine Wemeau-Stervinou, Anne Bergeron Lafaurie, Dominique Israel-Biet, Clement Picard, Martine Reynaud Gaubert, Stephane Jouneau, Jean-Marc Naccache, Julie Mankikian, Christelle Ménard, Jean-François Cordier, Dominique Valeyre, Marion Reocreux, Bernard Grandchamp, Patrick Revy, Caroline Kannengiesser, Bruno Crestani
Telomerase reverse transcriptase (TERT) or telomerase RNA (TERC) gene mutation is a major monogenic cause of pulmonary fibrosis. Sequencing of TERT/TERC genes is proposed to patients with familial pulmonary fibrosis. Little is known about the possible predictors of this mutation and its impact on prognosis.We retrospectively analysed all the genetic diagnoses made between 2007-2014 in patients with pulmonary fibrosis. We evaluated the prevalence of TERT/TERC disease-associated variant (DAV), factors associated with a DAV, and the impact of the DAV on survival...
December 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
Hung-Pin Lin, Yu-Hsueh Wu, Yi-Ping Wang, Yang-Che Wu, Julia Yu-Fong Chang, Andy Sun
BACKGROUND/PURPOSE: Approximately 13% of recurrent aphthous stomatitis (RAS) patients have serum anti-gastric parietal cell antibody (GPCA) positivity. This study assessed whether serum GPCA or RAS itself was a significant factor causing hematinic deficiencies and anemia statuses in GPCA-positive RAS (GPCA+/RAS) and all autoantibodies-negative RAS (Abs-/RAS) patients. METHODS: The mean corpuscular volume (MCV) and mean blood hemoglobin (Hb), iron, vitamin B12, and folic acid levels were measured and compared between any two of three groups of 31 GPCA+/RAS patients, 240 Abs-/RAS patients, and 342 healthy control subjects...
November 5, 2016: Journal of the Formosan Medical Association, Taiwan Yi Zhi
Julia Y-F Chang, I-Chang Chen, Yi-Ping Wang, Yu-Hsueh Wu, Hsin-Ming Chen, Andy Sun
BACKGROUND/PURPOSE: Serum gastric parietal cell antibody (GPCA), thyroglobulin antibody (TGA), and thyroid microsomal antibody (TMA) are found in some erosive oral lichen planus (EOLP) patients. This study assessed whether serum GPCA, TGA and TMA and EOLP itself played significant roles in causing anemia and hematinic deficiencies in TGA/TMA-positive EOLP patients with GPCA positivity (GPCA(+)/TGA/TMA/EOLP patients) or negativity (GPCA(-)/TGA/TMA/EOLP patients). METHODS: The mean corpuscular volume (MCV) and mean blood hemoglobin (Hb), iron, vitamin B12, and folic acid levels were measured and compared between any two of the four groups of 29 GPCA(+)/TGA/TMA/EOLP patients, 80 GPCA(-)/TGA/TMA/EOLP patients, 198 all antibodies-negative EOLP patients (Abs(-)/EOLP patients), and 218 healthy control individuals...
November 2016: Journal of the Formosan Medical Association, Taiwan Yi Zhi
Maria T Bourlon, Dexiang Gao, Sara Trigero, Julia E Clemons, Kathryn Breaker, Elaine T Lam, Thomas W Flaig
Increases in the mean corpuscular volume (MCV) have been observed in patients with metastatic renal cell carcinoma (mRCC) on tyrosine kinase inhibitor (TKI) treatment; however, its association with progression-free-survival (PFS) is unknown. We aimed to characterize TKI-associated macrocytosis in mRCC and its relationship with PFS. Retrospective review of data on macrocytosis and thyroid dysfunction on mRCC patients treated with sunitinib and/or sorafenib. These results are evaluated in the context of our previous report on the association of hypothyroidism in this setting...
October 19, 2016: Cancer Medicine
Petra Vašeková, Peter Szépe, Ján Marcinek, Tomáš Balhárek, Lukáš Plank
INTRODUCTION: Megaloblastic anemia (MA) represents a subtype of macrocytic anemia caused by impaired DNA synthesis, mostly due to folate and vitamin B12 deficiency. Its mildest forms lead to macrocytosis without concomitant anemia, but more severe forms to thrombocytopenia and/or leucopenia as well. In majority of the cases, the diagnosis of MA dose not represent a serious clinical problem, however, other causes of macrocytosis including myelodysplastic syndrome (MDS) must be excluded...
2016: Vnitr̆ní Lékar̆ství
Jakub Kucharz, Agnieszka Giza, Paulina Dumnicka, Marek Kuzniewski, Beata Kusnierz-Cabala, Pawel Bryniarski, Roma Herman, Aneta Lidia Zygulska, Krzysztof Krzemieniecki
Sunitinib, a multi-targeted receptor tyrosine kinase inhibitor, is a first-line treatment for metastatic renal cell carcinoma (mRCC) in patients in 'low' and 'intermediate' Memorial Sloan Kettering Cancer Center and Heng risk groups. Disruptions of hematopoiesis, such as anemia, neutropenia, and thrombocytopenia, are typically observed during sunitinib treatment. When it comes to RBC parameters, an increase in mean cell volume (MCV) tends to occur, meeting the criteria for macrocytosis in some patients (MCV > 100 fL)...
October 2016: Medical Oncology
Karlijn Stouten, Jurgen A Riedl, Jolanda Droogendijk, Rob Castel, Joost van Rosmalen, Ron J van Houten, Paul Berendes, Pieter Sonneveld, Mark-David Levin
BACKGROUND: Macrocytic anaemia (MCV ≥ 100 fL) is a relatively common finding in general practice. However, literature on the prevalence of the different causes in this population is limited. The prevalence of macrocytic anaemia and its underlying aetiology were analysed in a general practice population. The potential effect of the different aetiology on survival was also evaluated. METHODS: Between the 1st of February 2007 and the 1st of February 2015, patients aged 50 years or older and presenting to their general practitioner with a newly diagnosed anaemia, were included in the study...
2016: BMC Family Practice
Licínio Manco, Celeste Bento, Bruno L Victor, Janet Pereira, Luís Relvas, Rui M Brito, Carlos Seabra, Tabita M Maia, M Letícia Ribeiro
Glucose-6-phosphate isomerase (GPI) deficiency cause hereditary nonspherocytic hemolytic anemia (HNSHA) of variable severity in individuals homozygous or compound heterozygous for mutations in GPI gene. This work presents clinical features and genotypic results of two patients of Portuguese origin with GPI deficiency. The patients suffer from a mild hemolytic anemia (Hb levels ranging from 10 to 12.7g/mL) associated with macrocytosis, reticulocytosis, hyperbilirubinemia, hyperferritinemia and slight splenomegaly...
September 2016: Blood Cells, Molecules & Diseases
Julia Yu-Fong Chang, Yi-Ping Wang, Yang-Che Wu, Yu-Hsueh Wu, Chih-Huang Tseng, Andy Sun
BACKGROUND/PURPOSE: Erosive oral lichen planus (EOLP) patients with desquamative gingivitis (DG) are sometimes encountered in our oral mucosal disease clinic. This study assessed hematinic deficiencies and anemia statuses in antigastric parietal cell antibody (GPCA)-positive EOLP patients with DG (GPCA(+)/DG(+)/EOLP patients). METHODS: The blood hemoglobin, iron, vitamin B12, folic acid, and homocysteine concentrations and serum GPCA levels in 92 GPCA(+)/DG(+)/EOLP patients and 184 age- and sex-matched healthy controls were measured and compared between the two groups...
October 2016: Journal of the Formosan Medical Association, Taiwan Yi Zhi
O S Plekhanova, E V Naumova, S A Lugovskaya, M E Potchtar, I Yu Bugrov, V V Dolgov
The article presents diagnostic of night paroxysmal hemoglobinuria. The night paroxysmal hemoglobinuria is an orphan disease characterized by absence of GPI-anchor on blood cells as a result of mutation of PIG-A gene on the short arm of X-chromosome. The particular proteins bounded with GPI-anchor implement function of defense from activation of components of complement and development of membrane-attacking complex. The erythrocytes exposed to destruction in bloodstream are among the most impacted. Therefore, one of the main signs of night paroxysmal hemoglobinuria is complement-depending intravascular hemolysis which indicators for a long time played a key role in diagnostic of night paroxysmal hemoglobinuria...
March 2016: Klinicheskaia Laboratornaia Diagnostika
Rosa Sousa, Cristina Gonçalves, Isabel Couto Guerra, Emília Costa, Ana Fernandes, Maria do Bom Sucesso, Joana Azevedo, Alfredo Rodriguez, Rocio Rius, Carlos Seabra, Fátima Ferreira, Letícia Ribeiro, Anabela Ferrão, Sérgio Castedo, Esmeralda Cleto, Jorge Coutinho, Félix Carvalho, José Barbot, Beatriz Porto
BACKGROUND: Red cell distribution width (RDW), a classical parameter used in the differential diagnosis of anemia, has recently been recognized as a marker of chronic inflammation and high levels of oxidative stress (OS). Fanconi anemia (FA) is a genetic disorder associated to redox imbalance and dysfunctional response to OS. Clinically, it is characterized by progressive bone marrow failure, which remains the primary cause of morbidity and mortality. Macrocytosis and increased fetal hemoglobin, two indicators of bone marrow stress erythropoiesis, are generally the first hematological manifestations to appear in FA...
2016: Orphanet Journal of Rare Diseases
Hazem Mohamed Saleh, Omar A Soliman, Mohamed Osama Elshazly, Alaa Raafat, Adel K Gohar, Taher A Salaheldin
In vivo responses to gold nanoparticles (GNPs) vary not only according to the size, shape, surface charge, and capping agent of GNPs but also according to the animal model, the route of administration, and the exposure frequency and duration. We illustrate here the changes in some hematologic parameters, in the hepatic and renal functions, and in the histopathology of solid organs after multiple intraperitoneal injections of 18 nm GNPs in adult male Syrian golden hamsters. We scored the histopathological changes in the liver and kidneys to grade the deleterious effects...
2016: International Journal of Nanomedicine
Natsuko Takahashi, Junichi Kameoka, Naoto Takahashi, Yoshiko Tamai, Kazunori Murai, Riko Honma, Hideyoshi Noji, Hisayuki Yokoyama, Yasuo Tomiya, Yuichi Kato, Kenichi Ishizawa, Shigeki Ito, Yoji Ishida, Kenichi Sawada, Hideo Harigae
There have been no studies on the distribution of causes of macrocytic anemia with respect to mean corpuscular volume (MCV) cutoff values. We retrospectively investigated the causes of macrocytic anemia (MCV ≥100 fL) among 628 patients who visited the outpatient hematology clinic in Tohoku University Hospital. To ensure data validity, we also analyzed data from 307 patients in eight other hospitals in the Tohoku district. The leading causes of macrocytic anemia (number of patients, %) were myelodysplastic syndromes (121, 19...
September 2016: International Journal of Hematology
Thomas H Massey, Trevor T Pickersgill, Kathryn J Peall
A 36-year-old man presented to hospital with a 5-week history of ascending limb paraesthesiae and balance difficulties. He had no medical or travel history of note, but admitted habitual nitrous oxide (N2O) inhalation. Neurological examination revealed a sensory ataxia with pseudoathetosis in the upper limbs and reduced vibration sensation to the hips bilaterally. Significant investigation results included a low serum vitamin B12 concentration, mild macrocytosis and raised serum homocysteine concentration. T2 MRI of the spinal cord demonstrated increased signal extending from C1 to T11 in keeping with a longitudinal myelitis...
2016: BMJ Case Reports
Jody L Kujovich
Anemia is a common problem in primary care. Classification based on mean cell volume narrows the differential diagnosis and directs testing. A marked macrocytosis is characteristic of vitamin B12 and folate deficiencies, certain medications, and primary bone marrow disorders. The three most common causes of microcytic anemia are iron deficiency, thalassemia trait, and anemia of inflammation. Additional laboratory testing is required for diagnosis. Determination of the rate of development of anemia and examination of a blood smear may provide diagnostic clues to guide more specialized testing...
June 2016: Obstetrics and Gynecology Clinics of North America
S Y Ning, N B Chang, X Y Han, X Liu, Y W Duan, Y H Liu, T Liu, X L Duan, N H Li, J Guo, W Wang, Y Fan, J T Li
OBJECTIVE: To estimate the prevalence of anemia in urban community dwelling elderly population. METHODS: This study was a cross-sectional survey of prevalence of anemia in randomly selected community dwelling residents aged over 65 years in Beijing. Anemia was defined as hemoglobin concentration less than 130 g/L in men and 120 g/L in women. RESULTS: The hemoglobin concentration was (135.65±14.48) g/L in total of 1 947 eligible participants and was much higher in men than in women [(142...
April 1, 2016: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
Jatinder Singh Goraya, Kartik Bansal, Sekhar Singla, Sukhjot Kaur
Retrospective chart review of 15 patients with infantile tremor syndrome in which mothers had their serum vitamin B12 measured, showed low (<200 pg/mL) serum vitamin B12 in 9 and low-normal (<200-350 pg/mL) in 6. Of the 9 mothers who had undergone complete blood counts, anemia was present in 6 and macrocytosis in 3. Vitamin B12 deficiency appears to be common in mothers of infants with infantile tremor syndrome.
March 2016: Indian Pediatrics
D Totoskovic, V Dopsaj, J Martinovic
INTRODUCTION: This study aimed to investigate the utility of methylmalonic acid (MMA) and neutrophil Cell Population Data, available on the Beckman Coulter LH750 Analyser (Miami, FL, USA), in laboratory assessment of cobalamin status in patients at risk of cobalamin deficiency, without macrocytosis and inflammation. METHODS: The study group included 189 patients. Neutrophil Cell Population Data along with vitamin B12 and homocysteine were assessed in regard to MMA tertile groups...
June 2016: International Journal of Laboratory Hematology
Adewumi Adediran, Vincent Osunkalu, Tamunomieibi Wakama, Sarah John-Olabode, Akinsegun Akinbami, Ebele Uche, Sulaimon Akanmu
Background. Anaemia is a common complication of human immunodeficiency virus (HIV) infection. The aim of this study was to investigate the impact of HIV infection and zidovudine on red blood cells (RBC) parameters and urine methylmalonic acid (UMMA) levels in patients with HIV infection. Material and Methods. A cross-sectional study involving 114 subjects, 94 of which are HIV-infected nonanaemic and 20 HIV negative subjects (Cg) as control. Full blood count parameters and urine methylmalonic acid (UMMA) level of each subject were determined...
2016: Interdisciplinary Perspectives on Infectious Diseases
Akira Yokoyama, Philip J Brooks, Tetsuji Yokoyama, Takeshi Mizukami, Toshifumi Matsui, Mitsuru Kimura, Sachio Matsushita, Susumu Higuchi, Katsuya Maruyama
BACKGROUND: Roughly 40% of East Asians have inactive aldehyde dehydrogenase-2 (ALDH2) encoded by the ALDH2*2 allele, and 90% have highly active alcohol dehydrogenase-1B (ADH1B) encoded by the ADH1B*2 allele. Macrocytosis and macrocytic anemia in alcoholics have been associated with ADH1B and ALDH2 gene variants which increase acetaldehyde (AcH) levels. METHODS: We investigated the relationship between ADH1B*2, ALDH2*2, and leukocyte counts of Japanese alcoholic men (N = 1,661)...
March 2016: Alcoholism, Clinical and Experimental Research
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