8,416 results match your criteria Megaloblastic Anemia


Thiamine responsive megaloblastic anemia mimicking mitochondrial disorders.

Rev Neurol (Paris) 2019 Jan 3. Epub 2019 Jan 3.

Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), University of Tunis El Manar, Pasteur Institut of Tunis, Tunis, Tunisia.

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http://dx.doi.org/10.1016/j.neurol.2018.07.008DOI Listing
January 2019

Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant.

BMC Vet Res 2018 Dec 27;14(1):418. Epub 2018 Dec 27.

Section of Medical Genetics, University of Pennsylvania, 3900 Delancey Street, Philadelphia, PA, 19104-6010, USA.

Background: Three Komondor dogs in a small family and 3 sporadic cases exhibited a constellation of signs that included juvenile-onset of failure-to-thrive, inappetence, vomiting and/or diarrhea, and weakness. In each we documented dyshematopoiesis, increased anion gap, methylmalonic acidemia/-uria, and serum cobalamin deficiency. Urine protein electrophoresis demonstrated excretion of cubam ligands. Read More

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http://dx.doi.org/10.1186/s12917-018-1752-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309081PMC
December 2018
1.777 Impact Factor

Clinical manifestations of chronic atrophic gastritis.

Acta Biomed 2018 Dec 17;89(8-S):88-92. Epub 2018 Dec 17.

Endoscopy Unit, Departement of Surgery, ULSS7-Pedemontana, Santorso Hospital, Santorso (VI), Italy.

Although the actual prevalence of chronic atrophic gastritis is unknown and it is probable that this entity goes largely underdiagnosed, patients in whom diagnosis is established usually present advanced stages of disease. Destruction of parietal cells, either autoimmune-driven or as a consequence of Helicobacter pylori infection, determines reduction or abolition of acid secretion. Hypo/achloridia causes an increase in serum gastrin levels, with an increased risk of the development of neuroendocrine tumors. Read More

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http://dx.doi.org/10.23750/abm.v89i8-S.7921DOI Listing
December 2018
2 Reads

Ileocaecal tuberculosis: an under-recognised cause of vitamin B deficiency.

Trop Doct 2018 Dec 12:49475518816590. Epub 2018 Dec 12.

2 MD Resident, Department of Internal Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

A combination of anaemia and knuckle pigmentation should always raise concern for megaloblastic anaemia. As the terminal ileum is the site of vitamin B absorption and also the commonest site of abdominal tuberculosis, a clinical triad of prolonged fever, knuckle pigmentation and right lower quadrant abdominal tenderness should suggest ileocaecal tuberculosis in endemic areas. Read More

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http://journals.sagepub.com/doi/10.1177/0049475518816590
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http://dx.doi.org/10.1177/0049475518816590DOI Listing
December 2018
1 Read

Structural assembly of the megadalton-sized receptor for intestinal vitamin B uptake and kidney protein reabsorption.

Nat Commun 2018 12 6;9(1):5204. Epub 2018 Dec 6.

Department of Biomedicine, Aarhus University, 8000, Aarhus C, Denmark.

The endocytic receptor cubam formed by the 460-kDa protein cubilin and the 45-kDa transmembrane protein amnionless (AMN), is essential for intestinal vitamin B (B) uptake and for protein (e.g. albumin) reabsorption from the kidney filtrate. Read More

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http://www.nature.com/articles/s41467-018-07468-4
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http://dx.doi.org/10.1038/s41467-018-07468-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283879PMC
December 2018
5 Reads

Arrhythmia in thiamine responsive megaloblastic anemia syndrome.

Turk J Pediatr 2018 ;60(3):348-351

Department of Pediatric Endocrinology, Erciyes University Medical Faculty, Kayseri, Turkey.

Argun M, Baykan A, Hatipoğlu N, Akın L, Şahin Y, Narin N, Kurtoğlu S. Arrhythmia in thiamine responsive megaloblastic anemia syndrome. Turk J Pediatr 2018; 60: 348-351. Read More

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http://dx.doi.org/10.24953/turkjped.2018.03.021DOI Listing
January 2018
1 Read

Hereditary spherocytosis: Retrospective evaluation of 65 children.

Turk J Pediatr 2018 ;60(3):264-269

Department of Pediatric Hematology, University of Health Sciences, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, Ankara, Turkey.

Güngör A, Yaralı N, Fettah A, Ok-Bozkaya İ, Özbek N, Kara A. Hereditary spherocytosis: Retrospective evaluation of 65 children. Turk J Pediatr 2018; 60: 264-269. Read More

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http://dx.doi.org/10.24953/turkjped.2018.03.005DOI Listing
January 2018
8 Reads

Relationship between cobalamin and folate deficiencies and anemia in dogs.

J Vet Intern Med 2019 Jan 29;33(1):106-113. Epub 2018 Nov 29.

Clinical Pathology, IDEXX Laboratories, New York, New York.

Background: Megaloblastic, nonregenerative anemia is a well-known consequence of cobalamin or folate deficiencies in humans but is not recognized in hypocobalaminemic or hypofolatemic dogs. Establishment of relationships between hypocobalaminemia or hypofolatemia and hematologic disease would encourage vitamin B testing, and potentially supplementation, in anemic dogs.

Objectives: To determine the prevalence of anemia in hypocobalaminemic or hypofolatemic dogs and to report the prevalence of hypocobalaminemia and hypofolatemia and nonregenerative anemia, macrocytosis, and anisocytosis in anemic dogs. Read More

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http://dx.doi.org/10.1111/jvim.15348DOI Listing
January 2019
11 Reads

First report of homocystinuria-megaloblastic anaemia, cobalamin E complementation type, in an Indian child.

Pathology 2019 Jan 19;51(1):95-98. Epub 2018 Nov 19.

Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00313025183025
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http://dx.doi.org/10.1016/j.pathol.2018.07.008DOI Listing
January 2019
2 Reads
2.188 Impact Factor

A descriptive study of clinico-hematological profile of megaloblastic anemia in a tertiary care hospital.

Med J Armed Forces India 2018 Oct 27;74(4):365-370. Epub 2017 Dec 27.

Brig Med, HQ 12 Corps, C/o 56 APO, India.

Background: Megaloblastic Anemia (MA) is a relatively common disease, yet the data on prevalence of MA remains scarce. This study was conducted to study the prevalence and clinico-hematological profile of MA.

Methods: This was a cross-sectional study done on 1150 adult anemic patients. Read More

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http://dx.doi.org/10.1016/j.mjafi.2017.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224687PMC
October 2018
13 Reads

The diagnostic use of ADVIA 2120i Siemens and an "APL criteria" can help to reduce the rate of early death in the APL.

Int J Lab Hematol 2018 Oct 24. Epub 2018 Oct 24.

Department of Laboratory Medicine, Civitanova Marche, Italy.

Introduction: Acute promyelocytic leukemia (APL) is a type of acute myeloid leukemia (AML) with a life-threatening coagulopathy. Once it is suspected, ATRA should be started. Appreciation of APL details is critical, but an experienced hematopathologist may not be available. Read More

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http://doi.wiley.com/10.1111/ijlh.12935
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http://dx.doi.org/10.1111/ijlh.12935DOI Listing
October 2018
12 Reads

Rubrivigilance in diabetes.

J Pak Med Assoc 2018 Jul;68(7):1132-1134

Life Fourways Hospital, South Africa.

Anaemia and diabetes have a multifaceted relationship. Their co-existence contributes to each other's etiopathogenesis, natural history, clinical presentation and prognosis. Anaemia may occur in autoimmune disease that coexists with type 1 diabetes, in erythropoietin deficient and in erythropoietin hyporesponsive states. Read More

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July 2018
2 Reads

Hidden myelodysplastic syndrome (MDS): A prospective study to confirm or exclude MDS in patients with anemia of uncertain etiology.

Int J Lab Hematol 2018 Oct 5. Epub 2018 Oct 5.

Hematology, Hospital Universitario de Salamanca-IBSAL, Salamanca, Spain.

Introduction: Diagnosis of myelodysplastic syndromes (MDSs) when anemia is the only abnormality can be complicated. The aim of our study was to investigate the primary causes of anemia and/or macrocytosis of uncertain etiology.

Methods: We conducted a multicenter, prospective study over 4 months in three hematology laboratories. Read More

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http://doi.wiley.com/10.1111/ijlh.12933
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http://dx.doi.org/10.1111/ijlh.12933DOI Listing
October 2018
11 Reads

Pernicious anemia associated with cryptogenic cirrhosis: Two case reports and a literature review.

Medicine (Baltimore) 2018 Sep;97(39):e12547

Department of Hepatology, The First Hospital of Jilin University, Jilin University, Changchun, Jilin, China.

Rationale: Pernicious anemia (PA) is an autoimmune gastritis that results from the destruction of gastric parietal cells and the associated lack of an intrinsic factor to bind ingested vitamin B12. While an association between PA and various liver diseases has been rarely reported, reports of associated diseases include primary biliary cholangitis, autoimmune hepatitis, and Interferon-treated hepatitis C. We present 2 cases of PA associated with cryptogenic cirrhosis (CC), which has not been previously reported in the literature. Read More

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http://Insights.ovid.com/crossref?an=00005792-201809280-0007
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http://dx.doi.org/10.1097/MD.0000000000012547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6181571PMC
September 2018
5 Reads

Frequency, types, and treatment of anemia in Turkish patients with inflammatory bowel disease.

World J Gastroenterol 2018 Sep;24(36):4186-4196

Division of Gastroenterology, Department of Internal Medicine, Faculty of Medicine, Dokuz Eylül University, İzmir 35360, Turkey.

Aim: To specify the type and prevalence of anemia along with a treatment approach for inflammatory bowel disease (IBD).

Methods: We conducted a retrospective study on 465 patients who were diagnosed with IBD and followed up at our hospital from June 2015 to June 2016 [male: 254, female: 211; average age: 47 ± 14.4; Crohn's disease (CD): 257, Ulcerative Colitis (UC): 208]. Read More

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http://dx.doi.org/10.3748/wjg.v24.i36.4186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158484PMC
September 2018
8 Reads

Global folate status in women of reproductive age: a systematic review with emphasis on methodological issues.

Ann N Y Acad Sci 2018 Nov 21;1431(1):35-57. Epub 2018 Sep 21.

Foods and Nutrition Department, University of Georgia, Athens, Georgia.

Inadequate folate status in women of reproductive age (WRA) can lead to adverse health consequences of public health significance, such as megaloblastic anemia (folate deficiency) and an increased risk of neural tube defect (NTD)-affected pregnancies (folate insufficiency). Our review aims to evaluate current data on folate status of WRA. We queried eight databases and the World Health Organization Micronutrients Database, identifying 45 relevant surveys conducted between 2000 and 2014 in 39 countries. Read More

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http://dx.doi.org/10.1111/nyas.13963DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282622PMC
November 2018
2 Reads
4.313 Impact Factor

Pulmonary embolism and megaloblastic anemia: is there a link? A case report an literature review.

Radiol Case Rep 2018 Dec 14;13(6):1212-1215. Epub 2018 Sep 14.

Nuclear Cardiology, National Institute of Cardiology Ignacio Chavez, Mexico City, Mexico.

Many factors have been associated with venous thromboembolism. Among them, vitamin B12 deficiency can produce elevated homocysteine levels, which is a risk factor for venous embolism, since the latter interferes with the activation of Va coagulation factor by activation of C protein. We present a case of a patient with metabolic syndrome with apparently unprovoked pulmonary embolism. Read More

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http://dx.doi.org/10.1016/j.radcr.2018.07.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6141725PMC
December 2018
2 Reads

Laboratory assessment of folate (vitamin B) status.

J Clin Pathol 2018 Nov 18;71(11):949-956. Epub 2018 Sep 18.

Nutristasis Unit, Viapath, St. Thomas' Hospital, London, UK

Folate (vitamin B) plays a crucial role in fundamental cellular processes, including nucleic acid biosynthesis, methyl group biogenesis and amino acid metabolism. The detection and correction of folate deficiency prevents megaloblastic anaemia and reduces the risk of neural tube defects. Coexisting deficiencies of folate and vitamin B are associated with cognitive decline, depression and neuropathy. Read More

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http://jcp.bmj.com/lookup/doi/10.1136/jclinpath-2018-205048
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http://dx.doi.org/10.1136/jclinpath-2018-205048DOI Listing
November 2018
8 Reads

Thalassemia minor presenting with vitamin B deficiency, paraparesis, and microcytosis.

J Blood Med 2018 4;9:141-144. Epub 2018 Sep 4.

Internal Medicine Department, Doctor Soliman Fakeeh Hospital, Jeddah, Saudi Arabia,

Vitamin B is essential for proper neurological functioning, and its deficiency may cause a wide range of neuropsychiatric and hematological manifestations. We report a case of a previously healthy 32-year-old female who was admitted to our hospital with sudden onset of bilateral lower limb paraparesis and loss of sensation. The serum level of vitamin B was mildly decreased with high methylmalonic acid and homocysteine levels. Read More

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http://dx.doi.org/10.2147/JBM.S163722DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128271PMC
September 2018
3 Reads

Different presentations of patients with transcobalamin II deficiency: A single center experience from Turkey.

Turk J Haematol 2018 Sep 6. Epub 2018 Sep 6.

Mersin University, Faculty of Medicine, Department of Pediatric Allergy and Immunology, Mersin, Turkey.

Objective: Transcobalamin II (TC) deficiency is a rare autosomal recessive disease characterized by decreased cobalamin availability, which in turn causes accumulation of homocysteine and methylmalonic acid. The presenting clinical features are failure to thrive, diarrhea, megaloblastic anemia, pancytopenia, neurologic abnormalities and also recurrent infections due to immune abnormalities in early infancy.

Materials And Methods: Here, we report the clinical and laboratory features of six children with TC deficiency who are all molecularly confirmed. Read More

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http://dx.doi.org/10.4274/tjh.2018.0230DOI Listing
September 2018
2 Reads

Thiamine Responsive Megaloblastic Anaemia, Diabetes Mellitus and Sensorineural Hearing Loss in a Child.

J Coll Physicians Surg Pak 2018 Sep;28(9):S169-S171

Department of Histopathology, Armed Forces Institute of Pathology (AFIP), Rawalpindi.

Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an autosomal recessive inherited disorder characterised by a triad of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. We report a case of 2-year-old girl whose anemia improved following administration of thiamine. She came with the history of persistent anaemia for the last one year. Read More

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http://dx.doi.org/10.29271/jcpsp.2018.09.S169DOI Listing
September 2018
3 Reads

Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.

Sudan J Paediatr 2018 ;18(1):10-23

King Abdullah International Medical Research Centre and King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

Inborn errors of metabolism (IEM) are heterogeneous group of disorders that might present in the clinics or emergency departments in different phenotypes, and one of these is a diabetes scenario. Diabetes is the most common endocrine disorder among children. The mechanism of how IEM could lead to diabetes is unclear; however, the postulated pathogenesis consists of three mechanisms: 1) accumulation of toxic substance in the gland, ruining structure and normal functionality, 2) disturbing energy availability required for hormone synthesis and 3) defect of complex molecules. Read More

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https://www.ejmanager.com/fulltextpdf.php?mno=297820
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http://dx.doi.org/10.24911/SJP.2018.1.3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6113785PMC
January 2018
11 Reads

[Pernicious anemia in a thalassemic patient - difficulties of the diagnosis].

Orv Hetil 2018 Aug;159(33):1368-1371

Hematológiai Osztály, Somogy Megyei Kaposi Mór Oktató Kórház Kaposvár, Tallián Gy. u. 20-34., 7400.

The bone marrow aspiration, which was done in a leukopenic, hypochromic, microcytic, progressive anemic, thalassemic patient, revealed megaloblastic morphology. The low level of vitamin B and the reticulocytosis following the B supportation strenghtened the diagnosis of pernicious anemia. The set of the right diagnosis has been delayed by the fact that even in severe anemia one could not obtain the typical signs of B deficiency, having a hypochromic, microcytic erythrocyte morphology, due to the thalassemia minor disorder. Read More

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http://dx.doi.org/10.1556/650.2018.31097DOI Listing
August 2018
2 Reads

Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B Metabolism: Case Reports and Literature Review.

J Pediatr 2018 Nov 26;202:315-319.e2. Epub 2018 Jul 26.

Baylor College of Medicine, Department of Pediatrics, Section of Hematology/Oncology, Texas Children's Hospital, Houston, TX.

We describe 2 children with cobalamin G disease, a disorder of vitamin B metabolism with normal serum B levels. They presented with megaloblastic anemia progressing rapidly to severe thrombotic microangiopathy. In infants presenting with acute thrombotic microangiopathy, cobalamin disorders should be considered early as diagnosis and targeted treatment can be lifesaving. Read More

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http://dx.doi.org/10.1016/j.jpeds.2018.06.054DOI Listing
November 2018
12 Reads

Clinico-haematological profile of patients with bicytopenia.

Pathology 2018 Aug 4;50(5):540-548. Epub 2018 Jul 4.

Jawaharlal Nehru Medical College, Belgaum, India.

Bicytopenia is the reduction of any of the two cell lines of blood, i.e., erythrocytes, leukocytes or platelets. Read More

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http://dx.doi.org/10.1016/j.pathol.2018.03.008DOI Listing
August 2018
3 Reads
2.190 Impact Factor

Proton Pump Inhibitors, H2-Receptor Antagonists, Metformin, and Vitamin B-12 Deficiency: Clinical Implications.

Authors:
Joshua W Miller

Adv Nutr 2018 Jul;9(4):511S-518S

Department of Nutritional Sciences, School of Environmental and Biological Sciences, Rutgers, The State University of New Jersey, New Brunswick, NJ.

There is clear evidence that proton-pump inhibitors (PPIs), H2-receptor antagonists (H2RAs), and metformin can reduce serum vitamin B-12 concentrations by inhibiting the absorption of the vitamin. However, it is unclear if the effects of these drugs on serum vitamin B-12 are associated with increased risk of biochemical or functional deficiency (as is indicated by elevated blood concentrations of homocysteine and methylmalonic acid) or clinical deficiency (including megaloblastic anemia and neurologic disorders such as peripheral neuropathy and cognitive dysfunction). This review provides an overview of vitamin B-12 absorption and biochemistry and the mechanisms by which PPIs, H2RAs, and metformin affect these functions. Read More

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http://dx.doi.org/10.1093/advances/nmy023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054240PMC
July 2018
2 Reads

[Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review].

Rev Med Interne 2019 Jan 19;40(1):20-27. Epub 2018 Jul 19.

Service de médecine interne, centre hospitalier universitaire vaudois (CHUV), rue du Bugnon, 46, 1011 Lausanne, Suisse.

Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive disease characterized by three main components: megaloblastic anemia, diabetes mellitus and sensorineural deafness. Those features occur in infancy but may arise during adolescence. Diagnosis relies on uncovering genetic variations (alleles) in the SLC19A2 gene, encoding for a high affinity thiamine transporter. Read More

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http://dx.doi.org/10.1016/j.revmed.2018.06.005DOI Listing
January 2019
5 Reads

Abnormal folate metabolism causes age-, sex- and parent-of-origin-specific haematological defects in mice.

J Physiol 2018 Sep 15;596(18):4341-4360. Epub 2018 Aug 15.

Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK.

Key Points: Folate (folic acid) deficiency and mutations in folate-related genes in humans result in megaloblastic anaemia. Folate metabolism, which requires the enzyme methionine synthase reductase (MTRR), is necessary for DNA synthesis and the transmission of one-carbon methyl groups for cellular methylation. In this study, we show that the hypomorphic Mtrr mutation in mice results in late-onset and sex-specific blood defects, including macrocytic anaemia, extramedullary haematopoiesis and lymphopenia. Read More

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http://doi.wiley.com/10.1113/JP276419
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http://dx.doi.org/10.1113/JP276419DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138292PMC
September 2018
6 Reads

Tongue Atrophy in Sjögren Syndrome Patients with Mucosa-associated Lymphoid Tissue Lymphoma: Autoimmune Epithelitis beyond the Epithelial Cells of Salivary Glands?

J Rheumatol 2018 Nov 15;45(11):1565-1571. Epub 2018 Jul 15.

From the Institute for Systemic Autoimmune and Neurological Diseases; Department of Oral Medicine and Oral Pathology, Faculty of Dentistry, School of Health Sciences, National and Kapodistrian University of Athens; Department of Pathophysiology, and Department of Physiology, Medical School, National and Kapodistrian University of Athens; Academy of Athens, Athens, Greece.

Objective: Primary Sjögren syndrome (pSS), an autoimmune epithelitis, bears the risk of evolving to non-Hodgkin lymphoma and most frequently to the mucosa-associated lymphoid tissue (MALT) subtype. Based on the observation that pSS patients with MALT present a more atrophic and more intensely fissured tongue, we aimed to semiquantify severity of tongue atrophy and clinically assess lingual appearance in pSS patients with and without MALT, and investigate whether tongue atrophy and fissured appearance could serve as clinical indicators/signs of MALT.

Methods: A blinded complete oral examination was performed in pSS patients with and without MALT. Read More

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http://dx.doi.org/10.3899/jrheum.180101DOI Listing
November 2018
17 Reads

Progressive Weakness and Memory Impairment in a Middle-aged Man.

JAMA 2018 Jul;320(2):197-198

Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1001/jama.2018.6474DOI Listing
July 2018
6 Reads

[Successful treatment with mecobalamin in a pernicious anemia patient presenting with false-normal serum vitamin B12].

Rinsho Ketsueki 2018 ;59(6):675-681

Department of Hematology, Nagano Red Cross Hospital.

An 81-year-old woman presented to our hospital with anemia. Complete blood counts revealed macrocytic anemia; however, serum vitamin B12 and folate levels were normal. Bone marrow aspiration revealed multilineage dysplasia, and the patient was initially diagnosed with refractory cytopenia and multilineage dysplasia subtype of myelodysplastic syndrome. Read More

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http://dx.doi.org/10.11406/rinketsu.59.675DOI Listing
January 2018
14 Reads

A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia.

Cell Physiol Biochem 2018 3;47(5):1989-1997. Epub 2018 Jul 3.

Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.

Background/aims: Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder resulting from mutations in SLC19A2, and is mainly characterized by megaloblastic anemia, diabetes, and progressive sensorineural hearing loss.

Methods: We study a Chinese Zhuang ethnicity family with thiamine-responsive megaloblastic anemia. The proband of the study presented with anemia and diabetes, similar to his late brother, as well as visual impairment. Read More

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http://dx.doi.org/10.1159/000491467DOI Listing
August 2018
17 Reads

Experimental folate deficiency in human subjects: what is the influence of vitamin C status on time taken to develop megaloblastic anaemia?

BMC Hematol 2018 19;18:13. Epub 2018 Jun 19.

Unit 10, Laurel Springs, 18 Doolan Street, Nambour, QLD 4560 Australia.

Background: In 1962 Victor Herbert developed megaloblastic anaemia four months after commencing a severely folate-deficient diet whereas, in his self-experiment 50 years later, this author took 19 months to fully deplete his liver folate store. This author proposed that his own larger initial liver folate store, due to his vegetarian diet and consumption of fortified foods, was the cause of the time difference.

Main Text: This author now proposes that Herbert was also likely to have been deficient in vitamin C, thus shortening the time taken to develop folate deficiency. Read More

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http://dx.doi.org/10.1186/s12878-018-0107-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007024PMC
June 2018
2 Reads

Mimicking Subacute Appendicitis.

Gastroenterology Res 2018 Jun 31;11(3):235-237. Epub 2018 May 31.

Department of Internal Medicine, Bassett Medical Center, Cooperstown, NY, USA.

() infection in humans is uncommon in the United States. Although there has been a drastic decline in the report of infection in this region, physicians should be aware of an uncommon presentation and its clinical relevance. We report a case of 55-year-old female of Ecuadorian/Peruvian origin who presented with an unknown cause of chronic right lower quadrant abdominal pain for 2 months without other particular symptoms. Read More

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http://dx.doi.org/10.14740/gr989wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5997473PMC
June 2018
9 Reads

A novel anemia associated with membranous cytoplasm degeneration in 16 patients: an ultrastructural study.

Ultrastruct Pathol 2018 Jul-Aug;42(4):350-357. Epub 2018 Jun 18.

a State Key Laboratory of Experimental Hematology, Peking Union Medical College , Institute of Hematology & Blood Diseases Hospital , Beijing , China.

Sixteen patients with mild anemia and hemolysis were difficult to be classified into any known category based on laboratory examinations and light microscopy. To make a definite diagnosis and investigate the pathomechanism, ultrastructural study was performed on erythroid cells from 16 patients. Transmission electron microscopy demonstrated a series of alterations of cytoplasm, including cytoplasm sequestration, membranous transformation, and degeneration in erythroblasts and reticulocytes at different stages. Read More

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http://dx.doi.org/10.1080/01913123.2018.1485807DOI Listing
November 2018
14 Reads
1.130 Impact Factor

Pancytopenia in an adult patient with thiamine-responsive megaloblastic anaemia.

BMJ Case Rep 2018 Jun 14;2018. Epub 2018 Jun 14.

Department of Internal Medicine, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

Thiamine-responsive megaloblastic anaemia (TRMA) is a syndrome associated with megaloblastic anaemia, diabetes mellitus and sensorineural deafness, due to mutations in the gene, which codes for a thiamine carrier protein. Oral thiamine supplementation is the main treatment. We report the case of a 25-year-old woman known for TRMA, who presented with pancytopenia (haemoglobin 7. Read More

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http://dx.doi.org/10.1136/bcr-2018-225035DOI Listing
June 2018
4 Reads

Incidence of cancer (other than gastric cancer) in pernicious anaemia: A systematic review with meta-analysis.

Dig Liver Dis 2018 08 24;50(8):780-786. Epub 2018 May 24.

Medical-Surgical Department of Clinical Sciences and Translational Medicine, Sapienza University of Rome, Italy.

Background: Pernicious anaemia (PA) is associated with increased gastric cancer risk, but the evidence is conflicting regarding the associated risk of other cancers.

Aim: To systematically determine the incidence rates of gastro-intestinal cancers other than gastric cancers (GI-other-than-GC) and non-gastrointestinal cancers (non-GIC) in PA adults, globally and per tumour site, and the risk associated with PA for GI-other than GC and non-GIC.

Methods: Studies of PA patients reporting the incidence of GI-other-than-GCs and non-GICs were identified with MEDLINE (PubMed)-EMBASE (from first date available to April 2017). Read More

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http://dx.doi.org/10.1016/j.dld.2018.05.012DOI Listing
August 2018
8 Reads

Macrocytic anemia in Lesch-Nyhan disease and its variants.

Genet Med 2018 Jun 6. Epub 2018 Jun 6.

Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.

Purpose: Lesch-Nyhan disease is an inherited metabolic disorder characterized by overproduction of uric acid and neurobehavioral abnormalities. The purpose of this study was  to describe macrocytic erythrocytes as another common aspect of the phenotype.

Methods: The results of 257 complete blood counts from 65 patients over a 23-year period were collected from 2 reference centers where many patients are seen regularly. Read More

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http://dx.doi.org/10.1038/s41436-018-0053-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281870PMC
June 2018
2 Reads

Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.

J Inherit Metab Dis 2018 Jun 4. Epub 2018 Jun 4.

Division of Human Genetics, The Children's Hospital of Philadelphia, Colket Translational Research Building, 3501 Civic Center Blvd, Floor 9, Philadelphia, PA, 19104, USA.

Background: Glutamate formiminotransferase deficiency (FTCD deficiency) or formiminoglutamic aciduria is the second most common of the known inherited disorders of folate metabolism. Initial case reports suggested that patients may have severe intellectual disability and megaloblastic anemia. However, these cases were obtained from screening cohorts of patients with developmental delay. Read More

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http://dx.doi.org/10.1007/s10545-018-0202-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279618PMC
June 2018
4 Reads

Vitamin B12 deficiency after esophagectomy with gastric tube reconstruction for esophageal cancer.

Dis Esophagus 2017 Dec;30(12):1-8

Department of Surgery, Erasmus MC, University Medical Centre Rotterdam, Rotterdam.

The aim of this study is to determine the prevalence and incidence of vitamin B12 deficiency after esophagectomy for cancer. It is unknown if patients after esophagectomy with gastric tube reconstruction are at an increased risk for vitamin B12 deficiency. A cross-sectional cohort (group A) and a prospective cohort (group B) of patients who underwent esophagectomy for cancer in two tertiary referral centers in the Netherlands were included. Read More

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http://academic.oup.com/dote/article/30/12/1/4600051
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http://dx.doi.org/10.1093/dote/dox102DOI Listing
December 2017
19 Reads

Efficacy of Long-Term Oral Vitamin B12 Supplementation after Total Gastrectomy: Results from a Prospective Study.

GE Port J Gastroenterol 2018 Apr 8;25(3):117-122. Epub 2017 Nov 8.

Department of Gastroenterology, Instituto Portugu's do Oncologia de Lisboa Francisco Gentil E.P.E., Lisbon, Portugal.

Background/objectives: Vitamin B (VB12) deficiency is a common complication after total gastrectomy which may be associated with megaloblastic anemia and potentially irreversible neurologic symptoms. Intramuscular supplementation of VB12 has been considered the standard treatment, although it is associated with high costs and patient discomfort.

Patients/methods: We performed a prospective uncontrolled study (ACTRN12614000107628) in order to evaluate the clinical and laboratory efficacy of long-term oral VB12 supplementation in patients submitted to total gastrectomy. Read More

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http://dx.doi.org/10.1159/000481860DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5939650PMC
April 2018
4 Reads

CA 15-3 predicting breast cancer relapse: beware of vitamin B12 deficiency.

Per Med 2018 May 10;15(3):163-165. Epub 2018 May 10.

Faculty of Medicine, Department of Hematology-Oncology, Hotel-Dieu de France University Hospital, Saint Joseph University,  Beirut, Lebanon.

A sustained increase of cancer antigen 15-3 serum levels was found in a 54-year-old woman treated 2 years ago for early stage breast cancer, without any evidence of cancer recurrence. The patient thereafter developed severe megaloblastic anemia secondary to vitamin B12 deficiency. Supplementation with B12 to reverse the anemia led to the normalization of the cancer antigen 15-3 serum levels. Read More

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http://dx.doi.org/10.2217/pme-2017-0067DOI Listing
May 2018
2 Reads

Transcellular transport of cobalamin in aortic endothelial cells.

FASEB J 2018 Oct 9;32(10):5506-5519. Epub 2018 May 9.

Department of Cellular and Molecular Medicine, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.

Cobalamin [Cbl (or B)] deficiency causes megaloblastic anemia and a variety of neuropathies. However, homeostatic mechanisms of cyanocobalamin (CNCbl) and other Cbls by vascular endothelial cells are poorly understood. Herein, we describe our investigation into whether cultured bovine aortic endothelial cells (BAECs) perform transcytosis of B, namely, the complex formed between serum transcobalamin and B, designated as holo-transcobalamin (holo-TC). Read More

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http://dx.doi.org/10.1096/fj.201701141RRDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133706PMC
October 2018
2 Reads

Black cohosh extracts and powders induce micronuclei, a biomarker of genetic damage, in human cells.

Environ Mol Mutagen 2018 06 18;59(5):416-426. Epub 2018 Apr 18.

Division of the National Toxicology Program, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina.

Black cohosh extract (BCE) is a widely used dietary supplement marketed to women to alleviate symptoms of gynecological ailments, yet its toxicity has not been well characterized. The National Toxicology Program (NTP) previously reported significant increases in micronucleated erythrocytes in peripheral blood of female Wistar Han rats and B6C3F1/N mice administered 15-1,000 mg BCE/kg/day by gavage for 90 days. These animals also developed a dose-dependent nonregenerative macrocytic anemia characterized by clinical changes consistent with megaloblastic anemia. Read More

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http://dx.doi.org/10.1002/em.22182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6031461PMC
June 2018
3 Reads

Folate deficiency increases chromosomal damage and mutations in hematopoietic cells in the transgenic mutamouse model.

Environ Mol Mutagen 2018 06 18;59(5):366-374. Epub 2018 Apr 18.

Nutrition Research Division, Health Canada, Ottawa, Canada.

Folate deficiency causes megaloblastic anemia and neural tube defects, and is also associated with some cancers. In vitro, folate deficiency increases mutation frequency and genome instability, as well as exacerbates the mutagenic potential of known environmental mutagens. Conversely, it remains unclear whether or not elevated folic acid (FA) intakes are beneficial or detrimental to the induction of DNA mutations and by proxy human health. Read More

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http://dx.doi.org/10.1002/em.22190DOI Listing
June 2018
4 Reads

Neutropenia and Increased Mean Corpuscular Volume (MCV) With Abnormal Neurologic Findings: A Case of Cobalamin D Deficiency.

J Pediatr Hematol Oncol 2019 Jan;41(1):e54-e56

Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.

Background: Disorders of intracellular cobalamin (Cbl) metabolism are classified from A to J according to biochemical phenotype, and genetic and complementation analyses. CblD-deficient patients present with developmental, hematologic, neurologic, and metabolic findings.

Clinical Observation: An 11-year-old boy presented with neutropenia, increased mean corpuscular volume, psychomotor retardation, and seizures. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001120DOI Listing
January 2019
4 Reads

Determining mean corpuscular volume and red blood cell count using electrochemical collision events.

Biosens Bioelectron 2018 Jul 26;110:155-159. Epub 2018 Mar 26.

Sookmyung Women's University, Department of Chemistry, Seoul 04310, South Korea. Electronic address:

Blood tests (e.g., red blood cell (RBC) count) are crucial for detecting, diagnosing, and monitoring the progression of blood disorders. Read More

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http://dx.doi.org/10.1016/j.bios.2018.03.053DOI Listing
July 2018
5 Reads

Prospective long-term evaluation of parenteral hydroxocobalamin supplementation in juvenile beagles with selective intestinal cobalamin malabsorption (Imerslund-Gräsbeck syndrome).

J Vet Intern Med 2018 May 23;32(3):1033-1040. Epub 2018 Mar 23.

Department of Clinical Chemistry, University Children's Hospital Zurich, Zurich, Switzerland.

Background: Prospective studies on maintenance treatment for Beagles with hereditary selective cobalamin (Cbl) malabsorption (Imerslund-Gräsbeck syndrome, IGS) are lacking. In our experience, measurement of methylmalonic acid (MMA), a Cbl-dependent metabolite, seems more helpful to monitor Cbl status as compared with serum Cbl concentrations.

Objectives: To evaluate a standardized Cbl supplementation scheme in Beagles with IGS. Read More

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http://dx.doi.org/10.1111/jvim.15090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5980559PMC
May 2018
1 Read

[Infiltration of tumor associated macrophages in multiple myeloma and its clinical significance].

Zhonghua Xue Ye Xue Za Zhi 2018 Feb;39(2):122-127

Department of Hematology the Second Affiliated Hospital of Medical University Of Anhui, Hefei 230601, China.

To investigate the clinical significance of tumor associated macrophages (TAM) in multiple myeloma (MM) and the relationship with angiogenesis and immunosuppression. Seventy cases of MM patients diagnosed from August 2015 to June 2017 were enrolled in the study as experimental group, 20 cases of benign hematological diseases (13 with iron deficiency anemia and 7 with megaloblastic anemia) patients as control group. Immunohistochemical method was used to detect the expression of CD163, CD34 and VEGF in bone marrow samples, and flow cytometry was used to detect the proportion of regulatory T cell (Treg cells), ELISA was used to detect the level of IL-10, and the clinical features were analyzed. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2018.02.009DOI Listing
February 2018
1 Read