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Cureus Nov 2023We present a 29-year-old man admitted to our hospital with fatigue for two months of duration and recent palpitations, lightheadedness, blurred vision and nausea. Workup...
We present a 29-year-old man admitted to our hospital with fatigue for two months of duration and recent palpitations, lightheadedness, blurred vision and nausea. Workup showed pancytopenia with severe macrocytic anemia, laboratory and blood smear features of hemolysis, low reticulocyte percentage and a negative direct Coombs test. B12 and folate levels were normal. As bone marrow aspirate was suggestive of megaloblastic anemia and upper endoscopy showed atrophic gastritis, we ordered homocysteine (elevated) and intrinsic factor (IF) antibodies (positive). The workup led to the diagnosis of pernicious anemia with spuriously normal B12 levels. Replacement therapy allowed a rapid recovery. We highlight that the presence of IF antibodies can interfere with the competitive binding assays commonly used to measure B12 levels.
PubMed: 38106734
DOI: 10.7759/cureus.48937 -
Italian Journal of Pediatrics Nov 2023Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune...
BACKGROUND
Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune diabetes. Macrocytic anemia and diabetes may be responsive to high-dosage thiamine treatment, in contrast to sensorineural deafness. Little is known about the efficacy of thiamine treatment on ocular manifestations.
CASES PRESENTATION
Our objective is to report data from four Italian TRMA patients: in Cases 1, 2 and 3, the diagnosis of TRMA was made at 9, 14 and 27 months. In 3 out of 4 subjects, thiamine therapy allowed both normalization of hyperglycemia, with consequent insulin suspension, and macrocytic anemia. In all Cases, thiamine therapy did not resolve the clinical manifestation of deafness. In Cases 2 and 3, follow-up showed no blindness, unlike Case 4, in which treatment was started for megaloblastic anemia at age 7 but was increased to high doses only at age 25, when the genetic diagnosis of TRMA was performed.
CONCLUSIONS
Early institution of high-dose thiamine supplementation seems to prevent the development of retinal changes and optic atrophy in TRMA patients. The spectrum of clinical manifestations is broad, and it is important to describe known Cases to gain a better understanding of this rare disease.
Topics: Humans; Child; Adult; Diabetes Mellitus; Hearing Loss, Sensorineural; Thiamine; Anemia, Megaloblastic; Early Diagnosis; Deafness
PubMed: 38037112
DOI: 10.1186/s13052-023-01553-1 -
Cureus Oct 2023Background and objective Vitamin B1 deficiency can cause a variety of abnormalities in the neuropsychiatric, cardiovascular, and other systems. This condition can be...
Background and objective Vitamin B1 deficiency can cause a variety of abnormalities in the neuropsychiatric, cardiovascular, and other systems. This condition can be rapidly corrected and prevented from progressing to irreversible sequelae through vitamin B1 supplementation. Therefore, early detection of and intervention in vitamin B1 deficiency are essential. We have previously demonstrated an association between vitamin B1 deficiency and appetite loss in hospitalized older adult patients in rural Japan. This study aimed to examine the additional predictors of vitamin B1 deficiency in patients with appetite loss and other symptoms suggestive of vitamin B1 deficiency. Material and methods This cross-sectional study involved 519 patients admitted to a rural hospital between April 2020 and March 2022. Data on vitamin B1 levels, age, sex, BMI, albumin levels, functional independence measure (FIM), hemoglobin levels, Charlson Comorbidity Index (CCI), and medications were collected from electronic medical records. Vitamin B1 deficiency was defined as serum vitamin B1 level <20 µg/dL. Data were analyzed using the Mann-Whitney U test, Student's t-test, and chi-square test, followed by multivariate logistic regression to examine the predictors of vitamin B1 deficiency. Results A total of 113 patients (21.5%) were found to be vitamin B1-deficient. Multivariate logistic regression showed that anemia was significantly associated with vitamin B1 deficiency [adjusted odds ratio (AOR): 1.71, 95% confidence interval (CI): 1.07-2.73, p<0.05]. Conclusion Based on our findings, anemia is significantly associated with vitamin B1 deficiency in hospitalized Japanese patients living in rural areas. Therefore, physicians should be mindful of the possibility of vitamin B1 deficiency in hospitalized patients with anemia.
PubMed: 38021762
DOI: 10.7759/cureus.47173 -
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 -
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 -
The Nurse Practitioner Nov 2023The symptoms of pernicious anemia might resemble those of other common disorders and can be nonspecific, requiring extensive diagnostic workup. The provider must be...
The symptoms of pernicious anemia might resemble those of other common disorders and can be nonspecific, requiring extensive diagnostic workup. The provider must be aware of the harm pernicious anemia can do if undiagnosed and untreated and must understand that diligence and persistence are crucial for an accurate diagnosis.
Topics: Humans; Anemia, Pernicious
PubMed: 37884022
DOI: 10.1097/01.NPR.0000000000000113 -
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 Laboratory Oct 2023Vitamin B12, or cobalamin deficiency, an infrequent clinical entity in pediatric age, is found almost solely in breastfed infants whose mothers are purely vegetarian,...
BACKGROUND
Vitamin B12, or cobalamin deficiency, an infrequent clinical entity in pediatric age, is found almost solely in breastfed infants whose mothers are purely vegetarian, non-supplemented or with pernicious anemia. Megaloblastic anemia in infants presents with generalized weakness or irritability.
METHODS
Diagnosis is usually centered on complete blood count, vitamin dosing, and peripheral smear, which may show macrocytes, hypersegmented neutrophils, reticulocytopenia and a raised mean corpuscular volume (MCV ˃ 100 fL). Pancytopenia has also been noted.
RESULTS
We report an exclusive breastfed nine-month-old female child who presented with irritability, developmental delay, and difficulties in introducing new foods. Her initial blood count revealed pancytopenia. Vitamin B12 levels were found to be reduced. Maternal levels of Vitamin B12 were also found to be borderline low. The child was treated as per protocols, and improvement was evidenced with the return of hematological parameters to the regular and gradual advancement of milestones.
CONCLUSIONS
We aim to underscore the importance of megaloblastic anemia as an important and rare cause of anemia in infancy.
Topics: Humans; Infant; Child; Female; Pancytopenia; Anemia, Megaloblastic; Vitamin B 12 Deficiency; Vitamin B 12; Anemia, Pernicious
PubMed: 37844051
DOI: 10.7754/Clin.Lab.2023.230420 -
Practical Neurology Jan 2024A young woman with Rogers syndrome (thiamine-responsive megaloblastic anaemia, diabetes mellitus and sensorineural deafness) presented with headache, recurrent...
A young woman with Rogers syndrome (thiamine-responsive megaloblastic anaemia, diabetes mellitus and sensorineural deafness) presented with headache, recurrent supraventricular tachycardia and features of an upper gastrointestinal bleed, 1 month after radiofrequency cardiac ablation for supraventricular tachycardia. She deteriorated rapidly after endoscopy and subsequently died. Brain imaging during the acute deterioration showed diffuse intracranial air embolism and hypoxic-ischaemic injury. Postmortem examination showed an atrio-oesophageal fistula, a rare complication of cardiac ablation. Clinicians should suspect this condition in patients with acute neurological deterioration after cardiac ablation who have diffuse air embolism on imaging.
Topics: Female; Humans; Atrial Fibrillation; Embolism, Air; Esophageal Fistula; Thiamine Deficiency; Tachycardia, Supraventricular
PubMed: 37827844
DOI: 10.1136/pn-2023-003915 -
International Journal of... Jul 2023Since December 2019 and the global epidemic of COVID-19 different countries have focused on vaccines, and one of the inactivated produced vaccines was the Sinopharm...
Since December 2019 and the global epidemic of COVID-19 different countries have focused on vaccines, and one of the inactivated produced vaccines was the Sinopharm COVID-19 vaccine. Some side effects of this vaccine were reported previously, including pain at the vaccination site, fatigue, lethargy, headache, and tenderness, which were more prevalent among individuals <49 years old. Herein, we reported two patients aged 45 and 51 years old. Both patients have different signs and symptoms after receiving the second dose of the vaccine. None had a history of chronic disease. On examination and following labs and other diagnostic investigations, we found megaloblastic anemia due to atrophic gastritis and low intrinsic factor. These cases showed an autoimmune side effect of the Sinopharm COVID-19 vaccine that was previously reported with an exact mechanism but other features called Covid Arm, Guillain-Barré syndrome, and thrombocytopenia. The mechanism of this reaction is unclear yet.
PubMed: 37817969
DOI: 10.18502/ijhoscr.v17i3.13312