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Pediatric Blood & Cancer Jan 2024
Topics: Humans; Anemia, Megaloblastic; Vitamin B 12 Deficiency; Malabsorption Syndromes; Proteinuria; Vitamin B 12
PubMed: 37855200
DOI: 10.1002/pbc.30731 -
Clinical & Translational Oncology :... Oct 2023To investigate the value of red blood cell parameters in Myelodysplastic syndrome (MDS) diagnosis and their relations to MDS subtypes and risk groups.
PURPOSE
To investigate the value of red blood cell parameters in Myelodysplastic syndrome (MDS) diagnosis and their relations to MDS subtypes and risk groups.
METHODS
The red blood cell parameter [mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC) and red cell distribution width (RDW)] levels [203 MDS, 99 aplastic anemia (AA), 145 megaloblastic anemia (MA)] were collected from a single-center retrospective cohort. The cut-off values, area under the receiver operating characteristic curve (ROC) curve (AUC), sensitivity and specificity of the four parameters were calculated from the ROC. Furthermore, Kruskal-Wallis test and Dunn's Test were performed to determine erythrocyte parameters in different subtypes and prognostic risks MDS.
RESULTS
There are significant statistic differences in RDW (P < 0.001), MCH (P = 0.036) and MCHC (P < 0.001) (MDS vs AA); RDW (P = 0.009), MCV (P < 0.001), MCH (P < 0.001) and MCHC (P = 0.001) (MDS vs MA); MCV (P = 0.011) and MCH (P = 0.008) (higher-risk MDS vs lower-risk MDS). Between MDS and MA, the area under the receiver operating characteristic curve (ROC) curve (AUC) values of MCV, MCH, MCHC, RDW were 0.846, 0.855, 0.617, and 0.593. Between MDS and AA, the AUC values of MCH, MCHC, RDW were 0.609, 0.671, and 0.662, respectively.
CONCLUSIONS
The red blood cell parameters contribute to the differential diagnosis of MDS, AA and MA and are related to MDS subtypes and risk groups.
Topics: Humans; Retrospective Studies; Erythrocytes; Erythrocyte Indices; Myelodysplastic Syndromes; Prognosis
PubMed: 37081223
DOI: 10.1007/s12094-023-03166-w -
Cureus Dec 2023Vitamin B12 deficiency is a well-known and overall common disease. While the etiology of vitamin B12 deficiency varies from post-surgical changes to inadequate dietary...
Vitamin B12 deficiency is a well-known and overall common disease. While the etiology of vitamin B12 deficiency varies from post-surgical changes to inadequate dietary consumption, pernicious anemia should be considered as it is a common cause. Pernicious anemia is an autoimmune atrophic gastritis impairing the absorption of vitamin B12. Manifestations include neurological changes, macrocytic anemia, glossitis, and nail changes. Hemolytic anemia is an unusual complication of vitamin B12 deficiency and an even more unusual initial presentation. This case identifies a patient with previously undiagnosed pernicious anemia with severe vitamin B12 deficiency compounded by hemolytic anemia as the presenting symptom. Overall, this case highlights the importance of considering vitamin B12 deficiency-related hemolytic anemia and the need for further research into the causes and pathophysiology of vitamin B12-induced hemolysis due to its potential for fatal outcomes despite being easily treatable with cost-effective methods to treat.
PubMed: 38226075
DOI: 10.7759/cureus.50534 -
Mymensingh Medical Journal : MMJ Jan 2024Pernicious anemia is an autoimmune disease leading to impaired absorption of dietary cobalamin. Patients with pernicious anemia can present with multiple hematological,...
Pernicious anemia is an autoimmune disease leading to impaired absorption of dietary cobalamin. Patients with pernicious anemia can present with multiple hematological, neurological and gastrointestinal complaints. Herein, we have a case of pernicious anemia presenting with alternating bowel habit. This was challenging and unique as the patient didn't have any usual condition responsible for alternating bowel habit and it is not reported in cases of pernicious anemia either. The case is a 46-year-old male who was admitted with alternating bowel habit, paresthesia and fever for the last 6 months. Patient was found to be severely anemic. After full workup, he was diagnosed with pernicious anemia. The patient was treated with IM Injections of Vitamin B12. After 3 months of discharge, the patient was free of all the symptoms. This case emphasizes the importance of investigating anemic patients with alternating bowel habit for pernicious anemia and also the need to exclude other causes of this symptom before labeling it as pernicious anemia only.
Topics: Male; Humans; Middle Aged; Anemia, Pernicious; Vitamin B 12; Autoimmune Diseases; Paresthesia
PubMed: 38163808
DOI: No ID Found -
Orphanet Journal of Rare Diseases Sep 2023Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by vitamin B12 malabsorption. Most patients present with non-specific symptoms... (Review)
Review
Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by vitamin B12 malabsorption. Most patients present with non-specific symptoms attributed to vitamin B12 deficiency, and proteinuria. Patients may if untreated, develop severe neurocognitive manifestations. If recognized and treated with sufficient doses of vitamin B12, patients recover completely. We provide, for the first time, an overview of all previously reported cases of IGS. In addition, we provide a complete review of IGS and describe two new patients.
Topics: Humans; Vitamin B 12 Deficiency; Anemia, Megaloblastic; Proteinuria; Vitamin B 12
PubMed: 37710296
DOI: 10.1186/s13023-023-02889-x -
International Journal For Vitamin and... Oct 2023Poor folate status is implicated in a wide variety of health disorders including megaloblastic anaemia, neural tube defects, and cardiovascular diseases. Human diet... (Review)
Review
Poor folate status is implicated in a wide variety of health disorders including megaloblastic anaemia, neural tube defects, and cardiovascular diseases. Human diet remains the main provider par excellence. Despite several public-health options to overcome this micronutrient deficiency, dietary folate intakes of women of childbearing age and children are still below recommendations in many African countries. Therefore, this review aims at presenting the current knowledge on folate contents in various African foods, and on folate losses during food processing. Seventy one food sources were evaluated in this study. These various food sources included thirty six vegetables, six cereals, height cereal products, six processed leafy vegetables, six pulses, three fruits, three legumes and three roots. All of them were originated from six African countries including Burkina Faso, Côte d'Ivoire, Egypt, Ethiopia, Nigeria, and South Africa. Folate content ranged between 11 and 73.4 μg/100 g in cereals, 1.8 and 39 μg/100 g in cereal-based processed foods, 8.48 and 48.6 μg/100 g in cooked leafy vegetables, 11.6 and 633 μg/100 g in vegetables, 10 and 22 μg/100 g in pulses, 52 and 148 μg/100 g in legumes, 8 and 106 μg/100 g in fruits. The structure of the food matrix has been shown to influence folate digestibility in foods. High bioaccessible folate, assessed by in vitro digestion, was observed among food products with dense porosity structures while low bioaccessible folate was recorded among food products with open porous structures such as porridges and some gelatinized doughs. Numerous food processing steps have also been shown to influence negatively folate contents in foods.
Topics: Child; Female; Humans; Diet; Edible Grain; Folic Acid; Food Handling; Fruit; Vegetables
PubMed: 35765242
DOI: 10.1024/0300-9831/a000759 -
Journal of Clinical Neurophysiology :... Sep 2023The aim of this study was to investigate the subclinical involvement of the optic nerve in asymptomatic patients with vitamin B12 deficiency using visual evoked...
PURPOSE
The aim of this study was to investigate the subclinical involvement of the optic nerve in asymptomatic patients with vitamin B12 deficiency using visual evoked potentials.
METHODS
This study included 40 asymptomatic patients diagnosed with vitamin B12 deficiency (considered as serum levels below 150 pg/mL) and a control group of 40 healthy individuals. All participants underwent a visual evoked potential examination. Routine screening for homocysteine was performed for patients with vitamin B12 deficiency. The levels of vitamin B12 and homocysteine and the presence of megaloblastic anemia were analyzed statistically compared with P100, N75, and N135 latencies and amplitudes.
RESULTS
The mean vitamin B12 level was 96 pg/mL in the patient group and 374 pg/mL in the control group. In the patient group, 24 (60%) patients had hyperhomocysteinemia and 8 (20%) patients had megaloblastic anemia. The P100 wave latency of patients with vitamin B12 deficiency was significantly prolonged compared with the control group ( P < 0.01). There was no significant difference in the P100 amplitude between the patient group and the control group. P100 latencies were significantly longer in patients with hyperhomocysteinemia ( P = 0.002).
CONCLUSIONS
Our study showed that patients with vitamin B12 deficiency may have visual evoked potential abnormalities without visual symptoms or examination findings. In addition, high homocysteine levels led to a prolonged P100 latency in the patient group independent of vitamin B12 levels.
Topics: Humans; Evoked Potentials, Visual; Hyperhomocysteinemia; Vitamin B 12 Deficiency; Vitamin B 12; Anemia, Megaloblastic
PubMed: 35349545
DOI: 10.1097/WNP.0000000000000920 -
Journal of Ayub Medical College,... 2023Thiamine-responsive megaloblastic anaemia (TRMA) is characterized by the classic trio of diabetes mellitus, sensorineural hearing loss, and megaloblastic anaemia,...
Thiamine-responsive megaloblastic anaemia (TRMA) is characterized by the classic trio of diabetes mellitus, sensorineural hearing loss, and megaloblastic anaemia, typically emerging subtly between infancy and adolescence. Administration of high-dose thiamine often yields improvements in anaemia and occasionally in diabetes. Uncommon manifestations include optic atrophy, congenital heart defects, short stature, and stroke. In this specific case, a 5-year-old diagnosed with insulin-dependent diabetes mellitus (IDDM) since the age of one presented with symptoms such as polyuria, fever, and vomiting, revealing an HbA1c of 10.64. Further examinations disclosed compromised hearing and vision. A negative antibody workup and a thyroid profile indicating hypothyroidism prompted additional investigations, including Brainstem Evoked Response Audiometry (BERA) and retinal examination, confirming bilateral sensorineural hearing loss and maculopathy, respectively. A comprehensive blood count unveiled megaloblastic anaemia. Genetic profiling confirmed a homozygous mutation in the SLC19A2 gene, thus diagnosing TRMA. An early diagnosis, coupled with genetic confirmation, enables timely intervention, with patients responding positively to high-dose thiamine. Genetic counselling plays a pivotal role in enlightening families about the disease and its inheritance patterns, fostering awareness and understanding.
Topics: Humans; Child, Preschool; Thiamine Deficiency; Thiamine; Anemia, Megaloblastic; Hearing Loss, Sensorineural; Hypothyroidism; Diabetes Mellitus; Membrane Transport Proteins
PubMed: 38406914
DOI: 10.55519/JAMC-S4-12486 -
EFSA Journal. European Food Safety... Nov 2023Following a request from the European Commission (EC), the EFSA Panel on Nutrition, Novel Foods and Food Allergens (NDA) was asked to deliver a scientific opinion on the...
Following a request from the European Commission (EC), the EFSA Panel on Nutrition, Novel Foods and Food Allergens (NDA) was asked to deliver a scientific opinion on the revision of the tolerable upper intake level (UL) for folic acid/folate. Systematic reviews of the literature were conducted to assess evidence on priority adverse health effects of excess intake of folate (including folic acid and the other authorised forms, (6S)-5-methyltetrahydrofolic acid glucosamine and l-5-methyltetrahydrofolic acid calcium salts), namely risk of cobalamin-dependent neuropathy, cognitive decline among people with low cobalamin status, and colorectal cancer and prostate cancer. The evidence is insufficient to conclude on a positive and causal relationship between the dietary intake of folate and impaired cognitive function, risk of colorectal and prostate cancer. The risk of progression of neurological symptoms in cobalamin-deficient patients is considered as the critical effect to establish an UL for folic acid. No new evidence has been published that could improve the characterisation of the dose-response between folic acid intake and resolution of megaloblastic anaemia in cobalamin-deficient individuals. The ULs for folic acid previously established by the Scientific Committee on Food are retained for all population groups, i.e. 1000 μg/day for adults, including pregnant and lactating women, 200 μg/day for children aged 1-3 years, 300 μg/day for 4-6 years, 400 μg/day for 7-10 years, 600 μg/day for 11-14 years and 800 μg/day for 15-17 years. A UL of 200 μg/day is established for infants aged 4-11 months. The ULs apply to the combined intake of folic acid, (6S)-5-methyltetrahydrofolic acid glucosamine and l-5-methyltetrahydrofolic acid calcium salts, under their authorised conditions of use. It is unlikely that the ULs for supplemental folate are exceeded in European populations, except for regular users of food supplements containing high doses of folic acid/5-methyl-tetrahydrofolic acid salts.
PubMed: 37965303
DOI: 10.2903/j.efsa.2023.8353 -
BMC Pulmonary Medicine Mar 2024Erlotinib is a first-generation, tyrosine kinase inhibitor of the epidermal growth factor receptor (EGFR-TKI) used for the treatment patients with NSCLC. Erlotinib is... (Review)
Review
BACKGROUND
Erlotinib is a first-generation, tyrosine kinase inhibitor of the epidermal growth factor receptor (EGFR-TKI) used for the treatment patients with NSCLC. Erlotinib is considered as a safe and effective treatment option, with generally good tolerance. Diarrhea and rash are the most common side effects, and more rare side effects appear in long-term real-world applications. Severe erlotinib related megaloblastic anemia is rare and remains unreported. This is the first case report of severe megaloblastic anemia in a patient with advanced lung adenocarcinoma with an EGFR L858R mutation treated with erlotinib. In this report, the clinical manifestations, diagnosis and treatment of erlotinib related severe megaloblastic anemia are described, and the possible pathogenesis and related treatment options are discussed.
CASE DESCRIPTION
Herein, we present a 57- year-old non-smoking female diagnosed with metastatic lung adenocarcinoma harboring an EGFR L858R mutation, who had received erlotinib as the first-line therapy. After 44 weeks of treatment, the patient developed severe anemia. Anemia was manifested as megaloblastic anemia with elevated mean corpuscular volume and mean corpuscular hemoglobin. The total vitamin B12 level was below the detection limit of 50.00 pg /mL. Bone marrow smear suggested megaloblastic anemia. Her hematologic parameters were markedly recovered following the withdrawal of erlotinib and vitamin B12 supplement. As a result, the patient was diagnosed with erlotinib-associated megaloblastic anemia.
CONCLUSIONS
This is the first case of severe megaloblastic anemia reported with erlotinib. Few of these hematologic adverse effects have been observed in studies on erlotinib, this case report highlights this possibility for long-term erlotinib administration. Close clinical and blood monitoring is recommended for patients receiving long-term TKI therapy.
Topics: Humans; Female; Middle Aged; Erlotinib Hydrochloride; Anemia; Anemia, Megaloblastic; Adenocarcinoma of Lung; ErbB Receptors; Lung Neoplasms; Vitamin B 12
PubMed: 38448889
DOI: 10.1186/s12890-024-02935-9