Results 51 to 60 of about 565,186 (153)

Neonatal diabetes mellitus around the world: Update 2024

Journal of Diabetes Investigation, Volume 15, Issue 12, Page 1711-1724, December 2024.
Between 2018 and early 2024, six brand new NDM‐genes have been discovered and 3 genes known to cause different diseases were identified as NDM‐genes. Currently NDM genes' list exceeds forty.This genetic heterogeneity translates into many different mechanism(s) of disease that are investigated with state‐of‐the‐art methodologies, such as induced ...
Fabrizio Barbetti, Asma Deeb, Shigeru Suzuki   +2 more
wiley   +1 more source

THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA IN TWO FEMALE SIBLINGS

Journal of Evolution of Medical and Dental Sciences, 2014
Thiamine responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder, which is caused by loss of function mutations in the SLC19A2 gene. TRMA is characterized by anemia, deafness, and diabetes mellitus. We now report two sisters, the eldest of which presented to a different hospital during childhood with sensorineural deafness, which was ...
Shilpa Reddy Diggireddy, Pratap Rao Sindiri, Ravikiran Janampally, Khurram Ali   +3 more
openaire   +1 more source

Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings

, 2015
Thiamine responsive megaloblastic anemia (TRMA) is an autosomal recessive disease caused by loss of function mutations in the SLC19A2 gene. TRMA is characterized by anemia, deafness, and diabetes.
Falco M, Fattorusso V, Flanagan SE, Mozzillo E, Taurisano R, Franzese A, Ellard S, Melis D   +7 more
core   +1 more source

Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes

Journal of Diabetes Investigation, Volume 15, Issue 10, Page 1390-1402, October 2024.
Our study provides a comprehensive analysis of neonatal diabetes mellitus (NDM) in Iranian patients, revealing a diverse genetic landscape with 58 distinct variants across 14 genes. ABSTRACT Introduction Neonatal diabetes mellitus (NDM) is a rare non‐immunological monogenic disorder characterized by hyperglycemic conditions primarily occurring within ...
Hamidreza Mianesaz, Safoura Ghalamkari, Farzaneh Abbasi, Maryam Razzaghy‐Azar, Fatemeh Sayarifard, Rahim Vakili, Maryam Sedghi, Samaneh Noroozi Asl, Sousan Hosseini, Mahsa M Amoli, Hanieh Yaghootkar   +10 more
wiley   +1 more source

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA WITH EPILEPSY: A CASE REPORT

AACE Clinical Case Reports, 2017
Abstract Background: Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare autosomal recessive disorder characterized by cardinal triad features of megaloblastic anemia, sensorineural deafness and diabetes mellitus. TRMA manifestation is caused by mutations in the gene SLC19A2 encoding a high-affinity thiamine transporter, which disturbs ...
Hanan M. Fouad, Hanaa M. El Karaksy, Shaimaa E. El Abrak   +2 more
openaire   +1 more source

Megaloblastic anaemia, diabetes and deafness in a 2-year old child [PDF]

, 2016
Megaloblastic anaemia in childhood usually occurs as a result of dietary folate deficiency or, rarely, congenital disorders of vitamin B12 metabolism. We present a 2-year-old girl with megaloblastic anaemia and insulin-dependent diabetes mellitus, both ...
Hartley, Patricia S, Berman, Peter, Davidson, Alan, Shuttleworth, Margaret H G   +3 more
core   +1 more source

Risk factors for anaemia among women and their young children hospitalised with suspected thiamine deficiency in northern Lao PDR

Maternal &Child Nutrition, Volume 20, Issue 1, January 2024.
Anaemia was common among women and their hospitalised children and was associated with micronutrient deficiencies and socioeconomic, dietary and health care‐seeking risk factors, suggesting that multiple strategies are required to prevent anaemia among women and children.
Sonja Y. Hess, Taryn J. Smith, Dalaphone Sitthideth, Charles D. Arnold, Xiuping Tan, Kerry S. Jones, Kenneth H. Brown, Silvia Alayon, Sengchanh Kounnavong   +8 more
wiley   +1 more source

Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16‐Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan

Pediatric Diabetes, Volume 2024, Issue 1, 2024.
Neonatal diabetes (ND) is a rare subtype of diabetes occurring in the first 6 months of life. High incidence has been reported among populations with high rates of consanguineous marriage. However, there is paucity of reported data from sub‐Saharan African countries.
Samar S. Hassan, Salwa A. Musa, Elisa De Franco, Russel Donis Frew, Omer O. Babiker, Ghassan F. Mohamadsalih, Areej A. Ibrahim, Samar Abu Samra, Mohamed A. Abdullah, Reem Al Khalifah   +9 more
wiley   +1 more source

A Case of Resistant Megaloblastic Anemia Responding to Thiamine

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2006
Thiamine responsive megaloblastic anemia (TRMA), also known as Roger syndrome is an autosomal recessive disorder resulting from the deficiency of thiamine (Vitamin B1) transporter protein.
A Bahrami- Ahmadi, F Binesh, MR Mortazavizadeh   +2 more
doaj  

Understanding Sideroblastic Anemia: An Overview of Genetics, Epidemiology, Pathophysiology and Current Therapeutic Options

Journal of Blood Medicine, 2020
Ghaith Abu-Zeinah, Maria T DeSancho Division of Hematology and Oncology, Department of Medicine, Weill Cornell Medicine, New York Presbyterian Hospital, New York, NY, USACorrespondence: Ghaith Abu-ZeinahWeill Cornell Medicine, New York Presbyterian ...
Abu-Zeinah G, DeSancho MT
doaj