Cochlear implant and thiamine-responsive megaloblastic anemia syndrome
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 +1 more source
Thiamine-responsive megaloblastic anemia syndrome: A case report
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+5 more
doaj +1 more source
Fourier Transform of Percoll Gradients Boosts CNN Classification of Hereditary Hemolytic Anemias [PDF]
Hereditary hemolytic anemias are genetic disorders that affect the shape and density of red blood cells. Genetic tests currently used to diagnose such anemias are expensive and unavailable in the majority of clinical labs. Here, we propose a method for identifying hereditary hemolytic anemias based on a standard biochemistry method, called Percoll ...
arxiv
Objective: To study the diagnostic utility of lactate dehydrogenase levels in differentiating megaloblastic anemia from myelodysplastic anemia in Pakistan. Study Design: Comparative cross-sectional study.
Faraz Ali Rana+5 more
doaj
Two Cases of Primary Cold Agglutinin Disease Associated with Megaloblastic Anemia
We report two cases of primary cold agglutinin disease (CAD) associated with megaloblastic anemia in Japanese elderly patients. Case 1 was a 67-year-old male and Case 2 was a 55-year-old male.
Shinsaku Imashuku+3 more
doaj +1 more source
Using Biological Variables and Social Determinants to Predict Malaria and Anemia among Children in Senegal [PDF]
Integrating machine learning techniques in healthcare becomes very common nowadays, and it contributes positively to improving clinical care and health decisions planning. Anemia and malaria are two life-threatening diseases in Africa that affect the red blood cells and reduce hemoglobin production.
arxiv
The Solute Carrier Family 19 Member 2 (SLC19A2, OMIM *603941) encodes the thiamine transporter 1 (THTR‐1) that brings thiamine (Vitamin B1) into cells. THTR‐1 is the only thiamine transporter expressed in bone marrow, cochlear, and pancreatic beta cells.
K. Amr+4 more
semanticscholar +1 more source
Large Language Models in Ambulatory Devices for Home Health Diagnostics: A case study of Sickle Cell Anemia Management [PDF]
This study investigates the potential of an ambulatory device that incorporates Large Language Models (LLMs) in cadence with other specialized ML models to assess anemia severity in sickle cell patients in real time. The device would rely on sensor data that measures angiogenic material levels to assess anemia severity, providing real-time information ...
arxiv
Estimating the prevalence of anemia rates among children under five in Peruvian districts with a small sample size [PDF]
In this paper we attempt to answer the following question: ``Is it possible to obtain reliable estimates for the prevalence of anemia rates in children under five years in the districts of Peru?'' Specifically, the interest of the present paper is to understand to which extent employing the basic and the spatial Fay-Herriot models can compensate for ...
arxiv +1 more source
Data-Driven Modeling and Control of Complex Dynamical Systems Arising in Renal Anemia Therapy [PDF]
This project is based on a mathematical model of erythropoiesis for anemia, which consists of five hyperbolic population equations describing the production of red blood cells under treatment with epoetin-alfa (EPO). Extended dynamic mode decomposition (EDMD) is utilized to approximate the non-linear dynamical systems by linear ones.
arxiv