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Knuckle hyperpigmentation in a young male: A clinical sign of B12 deficiency not to be missed
Trop Doct. 2024 Feb 29:494755241234081. doi: 10.1177/00494755241234081. Online ahead of print.ABSTRACTVitamin B12 and folate deficiency are reversible causes of megaloblastic anemia. Strict vegetarians are at risk of megaloblastic anemia due to low cobalamin in their diet. Knuckle hyperpigmentation in patients with megaloblastic anemia is due to excess melanin synthesis in skin. Here we present a case of a young vegetarian male with megaloblastic anemia with knuckle hyperpigmentation managed successfully with intravenous followed by oral vitamin b12 and folate supplementation.PMID:38419508 | DOI:10.1177/00494755241234081 (...
Source: Tropical Doctor - February 29, 2024 Category: Tropical Medicine Authors: Harpreet Singh Arvind Subramanian Deba P Dibhar Vikas Suri Ashish Bhalla Source Type: research

GSE245011 Folate depletion induces erythroid differentiation through perturbation of de novo purine synthesis
Contributors : Maynard G Adam ; Wong L Alan ; Kanarek NaamaSeries Type : Expression profiling by high throughput sequencingOrganism :Folate, an essential vitamin, is a one-carbon acceptor and donor in key metabolic reactions. Erythroid cells harbor a unique sensitivity to folate deprivation, as revealed by the primary pathological manifestation of nutritional folate deprivation: megaloblastic anemia. To study this metabolic sensitivity, we applied mild folate depletion to human and mouse erythroid cell lines, and primary murine erythroid progenitors. We show that folate depletion induces early blockade of purine synthesis...
Source: GEO: Gene Expression Omnibus - February 7, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Source Type: research

An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment
ConclusionsEarly 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. (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - November 30, 2023 Category: Pediatrics Source Type: research

An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment
Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune diabetes. Macrocytic anemia and diabetes may ... (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - November 30, 2023 Category: Pediatrics Authors: Francesca Di Candia, Valentina Di Iorio, Nadia Tinto, Riccardo Bonfanti, Claudio Iovino, Francesco Maria Rosanio, Ludovica Fedi, Fernanda Iafusco, Francesca Arrigoni, Rita Malesci, Francesca Simonelli, Andrea Rigamonti, Adriana Franzese and Enza Mozzillo Tags: Case report Source Type: research

Fatal cerebral air embolism from atrio-oesophageal fistula following cardiac ablation
Pract Neurol. 2023 Oct 12:pn-2023-003915. doi: 10.1136/pn-2023-003915. Online ahead of print.ABSTRACTA 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 a...
Source: Practical Neurology - October 12, 2023 Category: Neurology Authors: Ryan Yann Shern Keh Daniel du Plessis Gillian M Potter Christopher Kobylecki Paul Cooper Source Type: research

Pernicious Anemia Following COVID-19 Vaccination: A Report of Two Cases
Int J Hematol Oncol Stem Cell Res. 2023 Jul 1;17(3):220-223. doi: 10.18502/ijhoscr.v17i3.13312.ABSTRACTSince 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 dos...
Source: Cell Research - October 11, 2023 Category: Cytology Authors: Hamidreza Soltani Saeb Taghizade Abdolrahim Sadeghi Ali Farahat Mohammad Bagher Owlia Source Type: research

FRET-based probe for ratiometric detection and imaging of folic acid in real-time
Anal Biochem. 2023 Aug 14:115285. doi: 10.1016/j.ab.2023.115285. Online ahead of print.ABSTRACTInadequate folic acid intake is linked to diseases such as megaloblastic anemia, neural tube defects, and hyperhomocysteinemia, increasing the risk of vascular disease and thrombosis. Folic acid, a cofactor in various enzymes, can be produced by plants and bacteria, but not by humans and other animals. L-5-methyl-tetrahydrofolate (L-5-methyl-THF) is the primary dietary folate form, transported in circulation for cellular metabolism. Traditional methods of determining folic acid levels are unreliable and time-consuming. SenFol (Se...
Source: Analytical Biochemistry - August 16, 2023 Category: Biochemistry Authors: None Irfan Neha Soleja Mohd Mohsin Source Type: research

Vitamin B12 deficiency in an infant with neurological and hematological findings: A case report
Erythroid series show megaloblastic changes in an infant with vitamin B12 deficiency. Key Clinical MessageIt is important for pregnant and breastfeeding women who adhere to a strict vegetarian diet to take appropriate steps to avoid vitamin B12 deficiency in their infants.AbstractVitamin B12 deficiency is rare during infancy. The initial symptoms of this deficiency are subtle and may include irritability, failure to thrive with a decline in growth rate, apathy, anorexia, refusal of solid foods, megaloblastic anemia, and developmental regression. The case presented here involves an 8-month-old male infant who showed neurolo...
Source: Clinical Case Reports - August 7, 2023 Category: General Medicine Authors: Niraj Kumar Sharma, Madhur Bhattarai, Kushal Baral, Susmita Poudel, Nusaiba Farouk Hassan, Tulsi Ram Dhakal, Rituraj Baral Tags: CASE REPORT Source Type: research

Effect of megaloblastic anemia on hemoglobin A < sub > 2 < /sub > and diagnosis of β-thalassemia trait
CONCLUSIONS: Megaloblastic anemia can lead to false-positive diagnosis of β-thalassemia trait on HPLC. Repeat HPLC should be done after adequate supplementation of vitamin B12 and folic acid in cases of megaloblastic anemia with raised HbA2. Red cell parameters are not helpful to suspect β-thalassemia trait in presence of megaloblastic anemia. However, HbA2% on HPLC can be a useful parameter to suspect or exclude β-thalassemia trait in cases of megaloblastic anemia.PMID:37077076 | DOI:10.4103/ijpm.ijpm_233_21 (Source: Indian Journal of Pathology and Microbiology)
Source: Indian Journal of Pathology and Microbiology - April 20, 2023 Category: Pathology Authors: Sulagna Sahoo Nageswar Sahu Palash Das Urmila Senapati Source Type: research