Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia—Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation
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DOI: 10.1055/s-0040-1717136
Abstract: Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder characterized by the development of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. We report on the first two Croatian patients with TRMA, compound heterozygotes for nonsense,… read more here.
Keywords: anemia; responsive megaloblastic; megaloblastic anemia; thiamine responsive ... See more keywords
Cutaneous hyperpigmentation and megaloblastic anemia as manifestations of gastric syphilis
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DOI: 10.1111/ijd.15535
Abstract: References 1 Bombonato C, Piana S, Moscarella E, et al. Pigmented eccrine poroma: dermoscopic and confocal features. Dermatol Pract Concept 2016; 6: 59–62. 2 Sawaya JL, Khachemoune A. Poroma: a review of eccrine, apocrine, and… read more here.
Keywords: cutaneous hyperpigmentation; hyperpigmentation megaloblastic; megaloblastic anemia; manifestations gastric ... See more keywords
Three infants with megaloblastic anemia caused by maternal vitamin B12 deficiency
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DOI: 10.1111/ped.14196
Abstract: Jun Okamura, Yoshishige Miyake, Michi Kamei, Yasuhiko Ito and Tadashi Matsubayashi Department of Pediatrics, Ichinomiya Municipal Hospital, Ichinomiya, Japan, Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Department of Pediatrics,… read more here.
Keywords: anemia caused; megaloblastic anemia; three infants; department pediatrics ... See more keywords
Leukemia‐like megaloblastic anemia in an autistic child receiving risperidone and valproic acid
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DOI: 10.1111/ped.14281
Abstract: Autism spectrum disorders (ASD) are frequently treated by combined therapy with psychotropic and antiepileptic agents. To treat mood disorders and aggressive behavior in ASD, a combination of valproic acid (VPA) and risperidone is used. The… read more here.
Keywords: valproic acid; count; megaloblastic anemia; risperidone ... See more keywords
Black Cohosh Herbal Extract and Hematologic Alterations in B6C3F1/N Mice
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DOI: 10.1177/01926233221133549
Abstract: Black cohosh is a readily available dietary supplement currently marketed as a remedy for dysmenorrhea and menopausal symptoms and is one of the top-selling herbal supplements in the United States. Black cohosh extract (BCE) was… read more here.
Keywords: cohosh; megaloblastic anemia; cohosh herbal; herbal extract ... See more keywords
Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation
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DOI: 10.1515/jpem-2016-0322
Abstract: Abstract Three siblings with thiamine-responsive megaloblastic anemia (TRMA) with a homozygous c.454delGGCATinsAT mutation in SLC19A2 are described. The index case presented at 14 months’ old with severe non-ketotic hyperglycemia, dehydration, seizures and sinovenous thrombosis. She… read more here.
Keywords: anemia trma; responsive megaloblastic; megaloblastic anemia; thiamine responsive ... See more keywords
Recurrent Stroke in a Child with TRMA Syndrome and SLC19A2 Gene Mutation
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DOI: 10.22037/ijcn.v12i1.17272
Abstract: Here we report a 5-month-old boy with thiamine Responsive Megaloblastic Anemia syndrome (TRMA syndrome) with several attacks of stroke, admitted to Mofid Children's Hospital, Tehran, Iran, in 2016. In addition to the cardinal clinical manifestations… read more here.
Keywords: mutation; megaloblastic anemia; slc19a2 gene; trma syndrome ... See more keywords
An Adult Case of Thiamine-Sensitive Megaloblastic Anemia Syndrome Accidentally Diagnosed Myelodysplastic Syndrome.
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DOI: 10.29271/jcpsp.2019.06.s13
Abstract: Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare disease comprising a classic triad of megaloblastic anemia, diabetes mellitus, and early-onset sensorineural deafness. TRMA can generally be diagnosed in early childhood. Early diagnosis is important to… read more here.
Keywords: anemia; myelodysplastic syndrome; case; diagnosed myelodysplastic ... See more keywords
Megaloblastic anemia due to severe vitamin B12 deficiency
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DOI: 10.3949/ccjm.89a.21041
Abstract: The 75-year-old patient presenting with altered mental status and pancytopenia had a history of peptic ulcer disease and subtotal gastrectomy. read more here.
Keywords: b12 deficiency; anemia due; megaloblastic anemia; due severe ... See more keywords
Effect of megaloblastic anemia on hemoglobin A2 and diagnosis of β-thalassemia trait
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DOI: 10.4103/ijpm.ijpm_233_21
Abstract: Context: β-thalassemia trait is usually diagnosed by raised hemoglobin A2 (HbA2). The presence of megaloblastic anemia can cause an increase in HbA2 and create a diagnostic dilemma. Here, we have analyzed the effect of vitamin… read more here.
Keywords: megaloblastic anemia; thalassemia trait; hba2;
Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report.
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DOI: 10.5546/aap.2017.eng.e153
Abstract: BACKGROUND Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound… read more here.
Keywords: anemia syndrome; anemia; responsive megaloblastic; megaloblastic anemia ... See more keywords