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British Journal of Cancer Jun 2021Folate, vitamin B6 and vitamin B12 have been associated with digestive system cancers. We conducted a two-sample Mendelian randomisation study to assess the causality of...
BACKGROUND
Folate, vitamin B6 and vitamin B12 have been associated with digestive system cancers. We conducted a two-sample Mendelian randomisation study to assess the causality of these associations.
METHODS
Two, one and 14 independent single nucleotide polymorphisms associated with serum folate, vitamin B6 and vitamin B12 at the genome-wide significance threshold were selected as genetic instruments. Summary-level data for the associations of the vitamin-associated genetic variants with cancer were obtained from the UK Biobank study including 367,561 individuals and FinnGen consortium comprising up to 176,899 participants.
RESULTS
Genetically predicted folate and vitamin B6 concentrations were not associated with overall cancer, overall digestive system cancer or oesophageal, gastric, colorectal or pancreatic cancer. Genetically predicted vitamin B12 concentrations were positively associated with overall digestive system cancer (OR, 1.12; 95% CI 1.04, 1.21, p = 0.003) and colorectal cancer (OR 1.16; 95% CI 1.06, 1.26, p = 0.001) in UK Biobank. Results for colorectal cancer were consistent in FinnGen and the combined OR was 1.16 (95% CI 1.08, 1.25, p < 0.001). There was no association of genetically predicted vitamin B12 with any other site-specific digestive system cancers or overall cancer.
CONCLUSIONS
These results provide evidence to suggest that elevated serum vitamin B12 concentrations are associated with colorectal cancer.
Topics: Adult; Anemia, Pernicious; Case-Control Studies; Digestive System Neoplasms; Female; Folic Acid; Genetic Association Studies; Genetic Predisposition to Disease; Genetic Testing; Humans; Male; Mendelian Randomization Analysis; Polymorphism, Single Nucleotide; Risk Factors; Sweden; United Kingdom; Vitamin B 12; Vitamin B 6; Vitamin B Complex; Vitamin B Deficiency
PubMed: 33837300
DOI: 10.1038/s41416-021-01383-0 -
American Journal of Lifestyle Medicine 2022Vitamin B12 deficiencies are common in individuals consuming plant-predominant diets, including those who consume diary and/or eggs. Deficiencies can lead to...
Vitamin B12 deficiencies are common in individuals consuming plant-predominant diets, including those who consume diary and/or eggs. Deficiencies can lead to megaloblastic anemia and peripheral neuropathy, among other multi-system manifestations. The prevalence, assessment and prevention of vitamin B12 deficiency in patients following plant-predominant diets will be discussed.
PubMed: 35706595
DOI: 10.1177/15598276221076102 -
Clinical Medicine Insights. Case Reports 2023Bardet-Biedl syndrome (BBS) also known as Laurence-Moon-Bardet-Biedl syndrome one of the rarely reported genetic disorder characterized by an intellectual disability,...
BACKGROUND
Bardet-Biedl syndrome (BBS) also known as Laurence-Moon-Bardet-Biedl syndrome one of the rarely reported genetic disorder characterized by an intellectual disability, limb, kidney abnormalities, obesity, and Rod-cone dystrophy. Other associated condition includes diabetes mellitus, hypertension, hypogonadism, facial dysmorphism, and congenital heart defects. This case highlights megaloblastic anemia associated with BBS.
CASE PRESENTATION
A 16-year-old female patient who had a moon face, truncal obesity, polydactyly, low IQ, and visual impairment presented with the complaint of shortness of breath and easy fatiguability. She had bilateral retinal pigmentosa in her eyes and her laboratory evaluation and bone marrow biopsy revealed megaloblastic anemia secondary to vitamin B12 deficiency. She received injectable vitamin B12, folate, and red cell contrate transfusion. Her symptoms improved and she was discharged with oral medication.
CONCLUSION
Megaloblastic anemia in BBS is rarely reported, further research is needed to find the exact cause that is necessary for proper management and better outcome.
PubMed: 37588947
DOI: 10.1177/11795476231193896 -
Discovery Medicine 2022Pernicious anemia (PA) is an autoimmune disease characterized by cobalamin deficiency (CD) due to immune-mediated chronic atrophic gastritis (CAG). CD results from poor...
Pernicious anemia (PA) is an autoimmune disease characterized by cobalamin deficiency (CD) due to immune-mediated chronic atrophic gastritis (CAG). CD results from poor absorption of dietary cobalamin from the terminal ileum, triggered by positive intrinsic factor (IF) antibodies. It is the most common cause of CD worldwide. Despite advances in understanding biochemistry and pathogenesis of PA, its diagnosis can be extremely challenging as the disease may present with hematological as well as nonhematological manifestations and also because of unreliable serum cobalamin assays. Nonhematological manifestations may present in a patient with PA even in the absence of hematological findings. Herein, an overview of common and uncommon nonhematological manifestations of PA is discussed.
Topics: Humans; Anemia, Pernicious
PubMed: 36476278
DOI: No ID Found -
Cureus Feb 2022Lutetium-177 (Lu) dotatate is a type of peptide receptor radioligand therapy (PRRT) using radiolabeled somatostatin for patients with progressive somatostatin...
Lutetium-177 (Lu) dotatate is a type of peptide receptor radioligand therapy (PRRT) using radiolabeled somatostatin for patients with progressive somatostatin receptor-positive gastrointestinal neuroendocrine tumors. While cases of therapy-related myeloid neoplasms (t-MN) have been described as a consequence of Lu dotatate, there are no reports of hemolytic anemia associated with therapy. We present a case of a 68-year-old woman with metastatic low-grade neuroendocrine tumor who presented four weeks after the second dose of Lu dotatate with progressive fatigue and dyspnea. Laboratory workup was remarkable for hemolytic anemia. Lutetium-177 dotatate-induced hemolysis was suspected after ruling out other causes. Corticosteroid treatment was initiated with improvement in hemoglobin, and dose-reduced PRRT was planned upon discharge. Six months into the treatment course of Lu dotatate, macrocytic anemia was noticed on routine follow-up with normal vitamin B12 and folic acid levels. A bone marrow biopsy was done, revealing myelodysplastic syndrome (MDS) features. Given the temporal relationship between drug introduction and the objective findings, early-onset Lu dotatate-induced MDS was diagnosed with a plan for close hematologic follow-up. Myelodysplastic syndrome should be suspected when megaloblastic anemia develops in patients with previous Lu dotatate therapy. The latency period between initial treatment and MDS diagnosis reported in the literature ranges between 15 months to seven years. Apart from the unusually early onset of MDS, what is unique about our case is the development of hemolytic anemia after administration of PRRT. The clinical course and the brisk response to steroid therapy, suggest other mechanisms of PRRT toxicity besides DNA breaks, genetic mutations, and myelosuppression by an immune-mediated component that likely plays a role in Lu dotatate toxicity. Further investigation and monitoring are needed to identify the frequency of such adverse events and the pathophysiology of their occurrence.
PubMed: 35371754
DOI: 10.7759/cureus.22392 -
Cureus Oct 2023Anaemia is one of the most prevalent issues encountered throughout pregnancy, with Iron deficiency anaemia and megaloblastic anaemia being the most common causes in... (Review)
Review
Anaemia is one of the most prevalent issues encountered throughout pregnancy, with Iron deficiency anaemia and megaloblastic anaemia being the most common causes in India. It is critical to address anaemia in pregnancy since it has been linked to adverse pregnancy outcomes like preterm delivery, low-birth-weight newborns, fetal mortality, and, in certain circumstances, maternal death. The maternal mortality rate (MMR) is one of the significant health challenges, particularly in developing countries. It has substantially impacted the population's social situation and requires quick management. In this review article, we discuss recent developments and advancements in treating maternal anaemia with the aid of some government health programs, which can help with lowering the risk of maternal mortality. The primary goal of this manuscript is to raise awareness about anaemia in pregnancy. We examined the literature on anaemia during pregnancy, with a view to offering current and unambiguous guidance for preventing and managing this illness, which, if not appropriately managed, can result in severe maternal and neonatal problems.
PubMed: 37937034
DOI: 10.7759/cureus.46617 -
Colombia Medica (Cali, Colombia) 2023Megaloblastic anemias secondary to Vitamin B12 deficiency are a group of pathologies produced by defective nuclear DNA synthesis.
INTRODUCTION
Megaloblastic anemias secondary to Vitamin B12 deficiency are a group of pathologies produced by defective nuclear DNA synthesis.
OBJECTIVE
To describe the maturation alterations found in hematopoietic precursors of the bone marrow in a series of patients with megaloblastic anemia.
METHODS
Were included patients attended at the Regional Hospital of Concepción with bone marrow samples sent for the study of cytopenia by flow cytometry whose final diagnosis was megaloblastic anemia. The immunophenotype was performed with CD45, CD34, CD117, HLA-DR, markers of neutrophil (CD13, CD11b, CD10, CD16) and/or erythroblast (CD105, CD71, CD36) maturation.
RESULTS
From the flow cytometry laboratory database, 8 patients with megaloblastic anemia were identified, and myelodysplastic syndromes (n=9) and normal or reactive bone marrow (n=10) were used as controls. 44% were men, with a median age of 58 years. Megaloblastic anemia was associated with a higher proportion of size and complexity of erythroid and myeloid progenitors compared to lymphocytes compared to controls. The total percentage of erythroblasts and the proportion of CD34+ myeloid cells associated with erythroid lineage was higher in megaloblastic anemia, associated with a maturation arrest in the CD105+ precursor stage (69% vs 19% and 23%, <0.001). The heterogeneity of CD36 and CD71 in megaloblastic anemia was similar to myelodysplastic syndromes.
CONCLUSIONS
Megaloblastic anemia produces a heterogeneous involvement of hematopoiesis, characterized by a greater size and cellular complexity of precursors of the neutrophil and erythroid series and a maturation arrest of the erythroblasts.
Topics: Male; Humans; Middle Aged; Female; Flow Cytometry; Anemia, Megaloblastic; Vitamin B 12 Deficiency; Vitamin B 12
PubMed: 37649984
DOI: 10.25100/cm.v54i2.5494 -
Journal of Medical Case Reports Sep 2021In ineffective erythropoiesis, hepcidin synthesis is suppressed by erythroid regulators, namely erythroferrone and growth differentiation factor-15. For the first time,...
BACKGROUND
In ineffective erythropoiesis, hepcidin synthesis is suppressed by erythroid regulators, namely erythroferrone and growth differentiation factor-15. For the first time, the hypothesis that iron overload in megaloblastic anemia may be related to ineffective erythropoiesis is explored by describing the kinetics of hepcidin, erythroferrone, and growth differentiation factor-15 levels in a patient diagnosed with megaloblastic anemia associated with iron overload.
CASE PRESENTATION
An 81-year-old Caucasian male was admitted for fatigue. He had type-2 diabetes previously treated with metformin, ischemic cardiac insufficiency, and stage-3 chronic kidney disease. Vitiligo was observed on both hands. Biological tests revealed normocytic non-regenerative anemia associated with hemolysis, thrombocytopenia, and elevated sideremia, ferritin, and transferrin saturation levels. Megaloblastic anemia was confirmed with undetectable blood vitamin B12 and typical cytological findings like hyper-segmented neutrophils in blood and megaloblasts in bone marrow. The patient received vitamin B12 supplementation. At 3 months, biological parameters reached normal values. Hepcidin kinetics from diagnosis to 3 months inversely correlated with those of erythroferrone and growth differentiation factor-15.
CONCLUSIONS
This case suggests that iron-overload mechanisms of dyserythropoietic anemias may apply to megaloblastic anemias.
Topics: Aged, 80 and over; Anemia; Anemia, Megaloblastic; Erythropoiesis; Humans; Iron; Iron Overload; Male
PubMed: 34538261
DOI: 10.1186/s13256-021-03065-0 -
Cureus Oct 2022Background Pancytopenia is more of a manifestation of a spectrum of underlying diseases affecting the bone marrow. Specific treatment relies solely on early diagnosis...
Background Pancytopenia is more of a manifestation of a spectrum of underlying diseases affecting the bone marrow. Specific treatment relies solely on early diagnosis and identification of the accurate etiology. We aimed to generate data on the clinical and etiological profiles of patients diagnosed with pancytopenia. Materials and methods Fifty patients more than 13 years of age with pancytopenia who reported to a tertiary care hospital were included in the study. Thorough clinical examination, hematological investigation, and bone marrow biopsies were performed, and relevant data were recorded and analyzed statistically. Results Pancytopenia was most common in the age group of 25-34 years, with a male preponderance. The most common presenting complaints were fatigue and fever, with pallor present in all patients, followed by splenomegaly and hepatomegaly in a few patients. Aplastic anemia is the most common cause of pancytopenia, followed by megaloblastic anemia and leukemia. Conclusion While fatigue and fever are the most usual symptoms of pancytopenia, clinical pallor, hepatomegaly, and splenomegaly may be evident. Among the several etiologies, aplastic anemia is one of the most common causes of pancytopenia.
PubMed: 36407228
DOI: 10.7759/cureus.30449 -
Journal of Family Medicine and Primary... Jun 2022Anemia is the most common haematological disorder in pregnancy. Anemia increases maternal morbidity and mortality. It is a condition that can be diagnosed and treated...
UNLABELLED
Anemia is the most common haematological disorder in pregnancy. Anemia increases maternal morbidity and mortality. It is a condition that can be diagnosed and treated during antenatal period, preventing the serious complications of anemia during pregnancy and labour.
AIMS
This study investigated the prevalence of types of anemia during pregnancy and fetomaternal outcomes among pregnant women.
STUDY DESIGN
This was a cross-sectional study that enrolled 1100 pregnant women who were in the third trimester of pregnancy with haemoglobin level <11.0 gm/dl between March 2019 and August 2020.
METHODS AND MATERIAL
Participants were selected by consecutive sampling and baseline data were collected by using a predesigned and pretested structured questionnaire.
DATA ANALYSIS
Data were entered and analysed by using SPSS version 20.
RESULTS
The prevalence of anemia in third-trimester pregnancy in this study was 91.05%. Iron deficiency anemia was most common (69.18%) among pregnant women followed by megaloblastic anemia (2.5%). Most of pregnant women (45.90%) were mildly anemic. Mean ± SD of haematological parameters among the anemic pregnant women during third trimester of pregnancy were haemoglobin (8.08±2.24 gm/dl), haematocrit (28.92±7.78%), mean corpuscular volume (MCV) (93.02±11.32fl), mean corpuscular haemoglobin (MCH) (26.03±2.90 pg), mean corpuscular haemoglobin concentration(MCHC) (27.99 ± 2.01 gm/dl), RBC count (3.05 ± 0.67million/mm3). Most common maternal complications due to anemia in pregnancy was preterm labour (30%). Fetal outcome in the form of an alive term, most commonly seen in mild anemia (34.7%), fetal complications like Preterm alive (11.3%), preterm intrauterine fetal death (IUFD) (2.7%) most commonly associated with severe anemia.
CONCLUSION
The present study concludes that the prevalence of anemia among pregnant women in third trimester of pregnancy was 91.05% which is a serious public health problem. Proper counselling to the patients and their family members regarding cause of anemia, effect of anemia and complications of anemia. So, that such preventable condition can be prevented.
PubMed: 36119206
DOI: 10.4103/jfmpc.jfmpc_2418_21