Results 11 to 20 of about 458 (127)

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   +2 more sources

Arrhythmia in thiamine responsive megaloblastic anemia syndrome [PDF]

The Turkish Journal of Pediatrics, 2018
Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare, autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness.
Mustafa Argun, Ali Baykan, Nihal Hatipoğlu, Leyla Akın, Yavuz Şahin, Nazmi Narin, Selim Kurtoğlu   +6 more
doaj   +4 more sources

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

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   +4 more sources

An extremely rare case of Rogers syndrome or thiamine responsive megaloblastic anemia

Indian Journal of Pathology and Microbiology, 2023
Rogers syndrome is an extremely rare autosomal recessive syndrome of which only 100 cases are known worldwide. It is characterized by thiamine-responsive megaloblastic anaemia, diabetes mellitus and sensorineural deafness.
Gurpreet Kaur, Ankur Ahuja, Arijit Sen, Paresh Singhal, Renjith Verghese   +4 more
doaj   +3 more sources

A challenging diagnosis for thiamine transporter deficiency anemia (Rogers syndrome) in two young siblings: A rare case report. [PDF]

Clin Case Rep, 2023
Abstract We present these two cases to emphasize the necessity of critical thinking and high suspicion of the disease (Rogers syndrome) to avoid potentially fatal situations due to its rarity and the importance of early treatment.
Deeb Y, Martini N, Ahmad YA, Alkosti M, Hamdan O.   +4 more
europepmc   +2 more sources

Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm.

Acta Haematol
Introduction: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is a rare autosomal recessive disease with a homozygous or compound-heterozygous mutation in the SLC19A2 gene characterized by megaloblastic anemia, diabetes mellitus (DM), and sensorineural hearing loss with onset in childhood.
Klötzer C, Schnabel F, Kubasch AS, Jentzsch M, Franke GN, Uhlig J, Faust H, Jauss RT, Oppermann H, Popp D, Metzeler KH, Lemke JR, Vučinić V, Platzbecker U.   +13 more
europepmc   +3 more sources

Acute Ischemic Stroke in a Young Woman with the Thiamine-Responsive Megaloblastic Anemia Syndrome [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2000
We report the case of a 20-yr-old girl with thiamine-responsive megaloblastic anemia (TRMA) associated with diabetes mellitus and bilateral sensorineural deafness (1, 2). Megaloblastic anemia was diagnosed at 7 months and was successfully treated with multiple vitamin preparations.
V. VILLA, RIVELLESE, ANGELA ALBAROSA, F. DI SALLE, C. IOVINE, V. POGGI, CAPALDO, BRUNELLA   +5 more
openaire   +5 more sources

Vitomics: A novel paradigm for examining the role of vitamins in human biology

BioEssays, Volume 45, Issue 12, December 2023., 2023
I advocate for an integrated model called “vitomics,” defined as vitamin‐related actions adapting an organism's metabolism/biology to a specific environmental condition(s) within, across and beyond the lifecycle. This does not preclude classic vitamin roles, but generally reflects a wider “systems biology” influence, embracing environmental/genetic ...
Mark D. Lucock
wiley   +1 more source

The Concise Guide to PHARMACOLOGY 2023/24: Transporters

British Journal of Pharmacology, Volume 180, Issue S2, Page S374-S469, October 2023., 2023
The Concise Guide to PHARMACOLOGY 2023/24 is the sixth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of approximately 1800 drug targets, and over 6000 interactions with about 3900 ligands. There is an emphasis on selective pharmacology (where available), plus links
Stephen P. H. Alexander, Doriano Fabbro, Eamonn Kelly, Alistair A. Mathie, John A. Peters, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Jamie A. Davies, Laura Amarosi, Catriona M. H. Anderson, Philip M. Beart, Stefan Broer, Paul A. Dawson, Gergely Gyimesi, Bruno Hagenbuch, James R. Hammond, Jules C. Hancox, Michal Hershfinkel, Ken‐ichi Inui, Yoshikatsu Kanai, Stephan Kemp, Edmund R. S. Kunji, Gavin Stewart, Sotiria Tavoulari, David T. Thwaites, Tiziano Verri   +27 more
wiley   +1 more source

Recurrent sideroblastic anemia during pregnancy

Clinical Case Reports, Volume 11, Issue 1, January 2023., 2023
Although Sideroblastic anemia is a rare type of anemia, it should be considered in cases of unexplained pregnancy‐relapsing anemia. Identification of possible revisable causes like pyridoxine deficiency is crucial to avoid both maternal and fetal adverse effects.
Shehab Mohamed, Firyal Ibrahim, Mohamad Najib Alasafar, Awni Alshurafa, Susanna Akiki, Dina Soliman, Samah Kohla, Aliaa Amer, Hana Qasim, Honar Cherif   +9 more
wiley   +1 more source