Results 1 to 10 of about 1,057 (102)

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   +2 more sources

TRMA Syndrome With a Severe Phenotype, Cerebral Infarction, and Novel Compound Heterozygous SLC19A2 Mutation: A Case Report

BMC Pediatrics, 2019
Background Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive inherited disease characterized by the clinical triad of megaloblastic anemia, sensorineural deafness, and diabetes mellitus.
Yu Ding, Xiumin Wang, Jian Wang
exaly   +3 more sources

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

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   +1 more source

Thiamine-responsive megaloblastic anemia syndrome: A case report

Journal of Diabetology, 2020
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare autosomal recessive disorder characterized by a cardinal triad consisting of megaloblastic anemia, sensorineural deafness, and diabetes mellitus.
Omkar Patil, Karnam Guruswamy Ravikumar, Sundaramoorthy Gopi, Thulasi Raman, Venkatesan Radha, Viswanathan Mohan   +5 more
doaj   +1 more source

Novel Homozygous Variant in the SLC19A2 Gene Causing Thiamine Responsive Megaloblastic Anemia Syndrome: A Disease to Be Considered in Diabetes Clinics

Endocrinology Research and Practice
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare syndrome with an autosomal recessive manner that develops due to a mutation in the SLC19A2gene.
Burak Canvar Helvacı, Hanife Saat , Sema Hepsen, Özant Helvacı, Erman Çakal   +4 more
doaj   +3 more sources

Análisis retrospectivo descriptivo sobre complicaciones trombóticas y tromboprofilaxis en adultos con trauma raquimedular agudo ASIA E

Revista Colombiana de Medicina Física y Rehabilitación, 2017
Objetivos: Describir las complicaciones trombóticas y la tromboprofilaxis en pacientes con trauma raquimedular agudo (TRMA) ASIA E, admitidos en la Clínica Universidad de La Sabana.
Diana Patricia Jaramillo Herrera, Paula Andrea Yáñez Díaz, Eliana María Gómez Árias, María Leonor Rengifo Varona, María Catalina Gómez Guevara, Jazmín Johanna Pinzón Suarez   +5 more
doaj   +1 more source

A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome

The Turkish Journal of Pediatrics, 2019
Thiamine-responsive megaloblastic anemia (TRMA) is a very rare syndrome characterized by the triad of early onset megaloblastic anemia, sensorineural deafness and diabetes mellitus.
Işık Odaman-Al, Alper Gezdirici, Melek Yıldız, Gizem Ersoy, Gönül Aydoğan, Zafer Şalcıoğlu, Tuba Nur Tahtakesen, Hasan Önal, Banu Küçükemre-Aydın   +8 more
doaj   +1 more source

Dyserythropoiesis and myelodysplasia in thiamine‐responsive megaloblastic anemia syndrome

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   +1 more source

Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine‐responsive megaloblastic anemia in an Egyptian family

Molecular Genetics & Genomic Medicine, 2019
Background The Solute Carrier Family 19 Member 2 (SLC19A2, OMIM *603941) encodes the thiamine transporter 1 (THTR‐1) that brings thiamine (Vitamin B1) into cells.
Khalda Amr, Patrycja Pawlikowska, Said Aoufouchi, Filippo Rosselli, Ghada El‐Kamah   +4 more
doaj   +1 more source

Arqueologia e modernidade

Revista de Arqueologia, 1994
Em um sensível e erudito texto sobre o tempo e os tempos, o Prof. Alfredo Bosi, da Universidade,de São Paulo, machadianamente sublinha: "E quando os mortos se wão depressa, não há história consistente".
Neroaldo Pontes de Azevedo
doaj   +1 more source