8,301 results match your criteria Anemia Megaloblastic


[Hyperpigmentation due to Vitamin B12 Deficiency].

Brain Nerve 2019 Apr;71(4):364-367

Komatsu Municipal Hospital.

Vitamin B12 deficiency is associated with mucocutaneous symptoms, such as glossitis and hyperpigmentation, as well as megaloblastic anemia and neuropathy. These are reversible conditions, and the symptoms improve with early detection and treatment. Whenever anemia is encountered in routine practice, vitamin B12 deficiency should be considered and the presence of skin symptoms should be investigated. Read More

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http://dx.doi.org/10.11477/mf.1416201277DOI Listing
April 2019
1 Read

Identification of an iron-responsive subtype in two children diagnosed with relapsing-remitting multiple sclerosis using whole exome sequencing.

Mol Genet Metab Rep 2019 Jun 23;19:100465. Epub 2019 Mar 23.

Division of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, National Health Laboratory Service (NHLS), Cape Town, South Africa.

Background: Multiple sclerosis is a disorder related to demyelination of axons. Iron is an essential cofactor in myelin synthesis. Previously, we described two children (males of mixed ancestry) with relapsing-remitting multiple sclerosis (RRMS) where long-term remission was achieved by regular iron supplementation. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2019.100465DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434495PMC
June 2019
5 Reads

50 Years Ago in The Journal of Pediatrics: Thiamine-Responsive Megaloblastic Anemia.

J Pediatr 2019 Apr;207:53

Department of Pediatrics Baylor College of Medicine Houston, Texas.

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http://dx.doi.org/10.1016/j.jpeds.2018.10.031DOI Listing
April 2019
1 Read

Etiology and clinico-hematological profile of pancytopenia: experience of a Mexican Tertiary Care Center and review of the literature.

Hematology 2019 Dec;24(1):399-404

a Department of Haematology , Hospital Civil de Guadalajara "Fray Antonio Alcalde", University of Guadalajara , Guadalajara , Mexico.

Background: Pancytopenia is a frequent entity in clinical practice as a feature of a myriad of conditions, ranging from benign to malignant diseases. Since the cause of pancytopenia depends on environmental factors, it is important to know the common etiologies of pancytopenia, however, few studies address this.

Objectives: To identify the etiology of pancytopenia in our population and compare them with what is reported elsewhere. Read More

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http://dx.doi.org/10.1080/16078454.2019.1590961DOI Listing
December 2019
1 Read

Deoxyuracil in DNA and disease: Genomic signal or managed situation?

DNA Repair (Amst) 2019 May 27;77:36-44. Epub 2019 Feb 27.

Graduate Field of Biochemistry, Molecular and Cellular Biology, Cornell University, Ithaca, NY, 14853, USA; Division of Nutritional Sciences, Cornell University, 127 Savage Hall, Ithaca, NY, 14853, USA. Electronic address:

Genomic instability is implicated in the etiology of several deleterious health outcomes including megaloblastic anemia, neural tube defects, and neurodegeneration. Uracil misincorporation and its repair are known to cause genomic instability by inducing DNA strand breaks leading to apoptosis, but there is emerging evidence that uracil incorporation may also result in broader modifications of gene expression, including: changes in transcriptional stalling, strand break-mediated transcriptional upregulation, and direct promoter inhibition. The factors that influence uracil levels in DNA are cytosine deamination, de novo thymidylate (dTMP) biosynthesis, salvage dTMP biosynthesis, dUTPase, and DNA repair. Read More

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http://dx.doi.org/10.1016/j.dnarep.2019.02.014DOI Listing

Vitamin B12 and folic acid associated megaloblastic anemia: Could it mislead the diagnosis of breast cancer?

Int J Vitam Nutr Res 2019 Mar 11:1-6. Epub 2019 Mar 11.

1 University of Health Sciences, Tepecik Training and Research Hospital, Department of Medical Biochemistry, Izmir, Turkey.

CA 15-3 is a tumor-associated antigen and is overexpressed in breast tumors, and may also be high in some other non-cancerous conditions. The aim of this study was to investigate the effect of megaloblastic anemia due to vitamin B12 or folic acid deficiency on the levels of tumor markers. Five-year patient data were retrospectively analyzed. Read More

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https://econtent.hogrefe.com/doi/10.1024/0300-9831/a000555
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http://dx.doi.org/10.1024/0300-9831/a000555DOI Listing
March 2019
3 Reads

Loss-of-Function Mutation in Thiamine Transporter 1 in a Family with Autosomal Dominant Diabetes.

Diabetes 2019 Mar 4. Epub 2019 Mar 4.

Department of Medicine, Harvard Medical School, Boston, MA, 02215, USA.

Solute Carrier Family 19 Member 2 () encodes thiamine transporter 1 (THTR1), which facilitates thiamine transport across the cell membrane. homozygous mutations have been described as a cause of thiamine-responsive megaloblastic anemia (TRMA), an autosomal recessive syndrome characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Here we describe a loss-of-function mutation (c. Read More

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http://dx.doi.org/10.2337/db17-0821DOI Listing
March 2019
1 Read
8.095 Impact Factor

Subacute oral administration of folic acid elicits anti-inflammatory response in a mouse model of allergic dermatitis.

J Nutr Biochem 2019 Jan 26;67:14-19. Epub 2019 Jan 26.

Pathology, Toxicology Division, The Institute of Environmental Toxicology, 4321, Uchimoriya-machi, Joso-shi, Ibaraki, Japan. Electronic address:

Folic acid (FA) deficiency is associated with several health problems, including megaloblastic anemia and fetal neural tube defects. Therefore, supplementation with FA is strongly recommended by governments worldwide. Recent published reports indicate that FA functions in immune system maintenance. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09552863183055
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http://dx.doi.org/10.1016/j.jnutbio.2019.01.009DOI Listing
January 2019
6 Reads

Disturbed homocysteine metabolism is associated with cancer.

Exp Mol Med 2019 Feb 21;51(2):21. Epub 2019 Feb 21.

Dr. B. R. Ambedkar Center for Biomedical Research, University of Delhi, Delhi, 110 007, India.

Hyperhomocysteinemia/Homocysteinuria is characterized by an increased level of toxic homocysteine in the plasma. The plasma concentration of homocysteine is 5-15 μmol/L in healthy individuals, while in hyperhomocysteinemic patients, it can be as high as 500 μmol/L. While increased homocysteine levels can cause symptoms such as osteoporosis and eye lens dislocation, high homocysteine levels are most closely associated with cardiovascular complications. Read More

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http://dx.doi.org/10.1038/s12276-019-0216-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389897PMC
February 2019
3 Reads

Case 5-2019: A 48-Year-Old Woman with Delusional Thinking and Paresthesia of the Right Hand.

N Engl J Med 2019 Feb;380(7):665-674

From the Departments of Psychiatry (C.H., O.F., A.I.), Radiology (B.P.L.), Hematology (J.C.T.C.), and Pathology (J.M.B.), Massachusetts General Hospital, and the Departments of Psychiatry (C.H., O.F., A.I.), Radiology (B.P.L.), Hematology (J.C.T.C.), and Pathology (J.M.B.), Harvard Medical School - both in Boston.

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http://dx.doi.org/10.1056/NEJMcpc1807495DOI Listing
February 2019
8 Reads

Homologous G776G Variant of Transcobalamin-II Gene is Linked to Vitamin B12 Deficiency.

Int J Vitam Nutr Res 2019 Feb 14:1-5. Epub 2019 Feb 14.

8 Division of Research and Advanced Studies, Kennesaw State University, Georgia, USA.

Vitamin B12 (Cobalamin) deficiency, due to improper internalization of cobalamin, is a metabolic disorder prevalent in impoverished and elderly populations and is associated with megaloblastic anemia and dementia. It has been suggested that mutations in transcobalamin II ( TCN2) or gastric intrinsic factor (GIF) proteins can alter their binding efficiency to cobalamin or reduce the ability of their receptors to internalize them. In this case-control study, the correlation between vitamin B12 deficiency and alternative alleles of TCN2 and GIF was investigated in a Jordanian population. Read More

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https://econtent.hogrefe.com/doi/10.1024/0300-9831/a000536
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http://dx.doi.org/10.1024/0300-9831/a000536DOI Listing
February 2019
12 Reads
1.000 Impact Factor

The Effect of Vitamin B12 and Folic Acid Supplementation on Serum Homocysteine, Anemia Status and Quality of Life of Patients with Multiple Sclerosis.

Clin Nutr Res 2019 Jan 25;8(1):36-45. Epub 2019 Jan 25.

Department of Neurology, Medicine Faculty, Kermanshah University of Medical Sciences, Kermanshah, Iran.

Plasma homocysteine level and megaloblastic anemia status are two factors that can affect the quality of life of patients with multiple sclerosis (MS). We conducted this study to determine the effect of vitamin B12 and folic acid supplementation on serum homocysteine, megaloblastic anemia status and quality of life of patients with MS. A total of 50 patients with relapsing remitting multiple sclerosis (RRMS) included in this study which divided into 2 groups. Read More

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http://dx.doi.org/10.7762/cnr.2019.8.1.36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355946PMC
January 2019
2 Reads

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

J Inherit Metab Dis 2019 Jan;42(1):140-146

Division of Human Genetics, The Children's Hospital of Philadelphia, Colket Translational Research Building, 3501 Civic Center Blvd, Floor 9, 19104, Philadelphia, Pennsylvania, 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/10.1002/jimd.12035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279618PMC
January 2019
1 Read

[Etiologyical Analysis of 133 Patients with Elderly Macrocytic Anemia and Diagnostic Significance of Laboratory Tests].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2019 Feb;27(1):202-207

Department of Hematology, The Second Affiliated Hospital of Dalian Medical University, Dalian 116027, Liaoning Province, China.

Objective: To study the etiology of macrocytic anemia in elderly patients and to evaluate the diagnostic significance of laborotory tests.

Methods: 133 elderly macrocytic anemia patients, whose age>60 years old, hemoglobin<100 g/L, mean red cell volume(MCV)>100 fL, and bone marrow cell test was performed, and these patients were grouped according to diseases, and the bilirubin, lactate dehydrogenase, folic acid, vit B12 and serum ferritin were tested, then the results of tests were compared and analyzed.

Results: The majority of the cases were diagnosed as megaloblastic anemia (MA), myelodysplasia syndrome (MDS), acute leukemia/multiple myeloma (AL/MM) and hemolytic anemia (HA). Read More

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http://dx.doi.org/10.7534/j.issn.1009-2137.2019.01.033DOI Listing
February 2019
13 Reads

Erythematous and Vascular Oral Mucosal Lesions: A Clinicopathologic Review of Red Entities.

Head Neck Pathol 2019 Mar 29;13(1):4-15. Epub 2019 Jan 29.

The Ohio State University, 305 W. 12 Ave, Columbus, OH, 43210, USA.

Erythematous lesions of the oral mucosa are common and can reflect a variety of conditions, ranging from benign reactive or immunologically-mediated disorders to malignant disease. Together with vascular abnormalities, which can vary from reddish to bluish-purple in color, the differential diagnosis for erythematous oral mucosal change is quite diverse. This review focuses on salient clinical features and histopathologic findings of selected conditions which clinically present as red or vascular-like oral mucosal alterations, including oral vascular malformations and neoplasms, pyogenic granuloma, localized juvenile spongiotic gingival hyperplasia, denture stomatitis, benign migratory glossitis (geographic tongue), orofacial granulomatosis, granulomatosis with polyangiitis (Wegener granulomatosis), megaloblastic anemia, and erythroplakia. Read More

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http://dx.doi.org/10.1007/s12105-019-01002-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6405795PMC
March 2019
3 Reads

Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the Gene: A Case Report.

Int J Mol Sci 2019 Jan 27;20(3). Epub 2019 Jan 27.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Menghini 1, 06129 Perugia, Italy.

Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder clinically characterized by megaloblastic anemia, benign mild proteinuria, and other nonspecific symptoms. Several pathogenetic variants in the amnionless () or cubilin () genes have been described in IGS. We describe a case of IGS with urinary tract infection and mild but persistent proteinuria at onset in an 11-month-old female child. Read More

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http://dx.doi.org/10.3390/ijms20030527DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387074PMC
January 2019
3 Reads

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
4 Reads

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
4 Reads
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
6 Reads

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
16 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
February 2019
6 Reads

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
February 2019
18 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335522PMC
January 2019
22 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
21 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
32 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 2019 Feb 24;41(1):124-132. 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
February 2019
18 Reads

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

Int J Lab Hematol 2019 Feb 5;41(1):109-117. 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
February 2019
25 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
13 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
11 Reads

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

Ann N Y Acad Sci 2018 11 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
5 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
4 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
4 Reads

Different Presentations of Patients with Transcobalamin II Deficiency: A Single-Center Experience from Turkey

Turk J Haematol 2019 02 6;36(1):37-42. Epub 2018 Sep 6.

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

Objective: Transcobalamin II 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 transcobalamin II deficiency who were all molecularly confirmed. Read More

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http://dx.doi.org/10.4274/tjh.galenos.2018.2018.0230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373502PMC
February 2019
4 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
21 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
4 Reads

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

J Pediatr 2018 11 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
22 Reads

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

Authors:
Joshua W Miller

Adv Nutr 2018 07;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
4 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
6 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
10 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
20 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
10 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
26 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
29 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
11 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
17 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
5 Reads