Results 1 to 10 of about 458 (127)

Dyserythropoiesis and myelodysplasia in thiamine‐responsive megaloblastic anemia syndrome [PDF]

Clinical Case Reports, 2020
The case of thiamine‐responsive megaloblastic anemia (TRMA) presented here speculates the need early diagnosis, continuous monitoring, follow‐up, and regulated treatment plan for the patients.
Mojgan Faraji‐Goodarzi, Fariba Tarhani, Nadereh Taee   +2 more
doaj   +6 more sources

Cochlear implant and thiamine-responsive megaloblastic anemia syndrome [PDF]

Annals of Saudi Medicine, 2014
Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and bilateral sensorineural deafness, responding in varying degrees to thiamine treatment.
Abdulrahman Abdullah Hagr
doaj   +4 more sources

An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment [PDF]

Italian Journal of Pediatrics, 2023
Background Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular complications, and nonautoimmune diabetes.
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, Enza Mozzillo   +13 more
doaj   +5 more sources

Thiamine– Responsive Megaloblastic Anemia Syndrome

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2009
Thiamine Responsive megaloblastic anemia in DIDMOA (Wolfram) syndrome has an autosomal- recessive mode of inheritance . Megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (DI), diabetes mellitus (DM) ,optic atrophy (OA ...
F Motavaselian, F Nourani, Kh Dehghani, M Kheirandish, AH Jafari, A Hashemi   +5 more
doaj   +6 more sources

Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome [PDF]

Frontiers in Pediatrics, 2021
Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is a rare autosomal recessive hereditary disease due to mutations in SLC19A2. Some cases show familial inheritance.Case report: A female patient (from a gravida 1, para 1 mother) of 3.5
Pengjiang Kang, Weihua Zhang, Jinquan Wen, Jiming Zhang, Fei Li, Wuxia Sun   +5 more
doaj   +2 more sources

Thiamine-responsive megaloblastic anemia syndrome with novel compound heterozygous SLC19A2 mutations and thrombotic events: a case report [PDF]

Journal of Medical Case Reports
Background Thiamine-responsive megaloblastic anemia syndrome represents a rare autosomal recessive condition originating from mutations in the SLC19A2 gene.
Francisco Xavier Jiménez, Carlos Rojas, Heidi A. Fernandez, Rossana Ruiz-Urbáez, Carlos Reyes-Silva, Jhonatan Guamán, Mauricio Carrión, Fernando Naranjo-Saltos   +7 more
doaj   +2 more sources

Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent [PDF]

Indian Journal of Endocrinology and Metabolism, 2012
Thiamine responsive megaloblastic anemia syndrome, an autosomal recessive inherited disorder characterized by a triad of anemia, diabetes mellitus and sensorineural deafness is caused by a deficiency of a thiamine transporter protein.
Mohd Ashraf Ganie, Imran Ali, A G Ahangar, Mohd Maqbool Wani, Sanjeed Ahmed, Manzoor Ahmed Bhat, Sulaiman Seth, Syed Mudasir   +7 more
doaj   +2 more sources

Rogers Syndrome, an Uncommon Cause of Megaloblastic Anemia: A Case Series [PDF]

Advanced Biomedical Research
The present case series describes two male children of 5 months and 11 months old, having diabetes mellitus and megaloblastic anemia, but with no syndromic symptoms or organ involvement.
Reshma Roshan, Masarat Mehboob, Roman Latif, Javid R. Bhat, Santosh G. Rathod   +4 more
doaj   +2 more sources

Diagnosis of a patient with severe sensorineural hearing loss as the initial symptom caused by novel compound heterozygous variant in SLC19A2 gene [PDF]

Brazilian Journal of Otorhinolaryngology
Objective: Thiamine-Responsive Megaloblastic Anemia (TRMA) syndrome, caused by biallelic variants in the SLC19A2 gene, typically presents with a triad of megaloblastic anemia, diabetes mellitus, and sensorineural hearing loss.
Yanan Shi, Junyang Li, Xiaoqin Chen, Niu Li, Sijie Yang, Youjin Li, Min Zhou   +6 more
doaj   +2 more sources

Thiamine responsive megaloblastic Anemia and deafness: A rare case of Roger's syndrome with successful hearing rehabilitation by cochlear implantation [PDF]

Journal of Otology
Thiamine responsive megaloblastic anemia (TRMA), also known as Roger's syndrome, is an exceptionally rare autosomal recessive disorder stemming from mutations in the SLC19A2 gene responsible for encoding a thiamine carrier protein.This syndrome manifests
Hetal Marfatia, Anoushka Sahai, Kartik Narkhede, Monankita Sharma   +3 more
doaj   +2 more sources