BACKGROUND: KMT2B-related dystonia is a childhood-onset movement disorder. This study investigated a novel KMT2B gene variant using whole exome sequencing (WES) and bioinformatics analysis, and expanded the known clinical spectrum of KMT2B-related dy...
Alpha-thalassemia is a widespread genetic disorder, and accurately distinguishing between alpha-plus (α⁺) and alpha-zero (α⁰) types is critical for effective screening and management. This study developed and evaluated machine learning models to clas...
Thalassemia is an inherited blood disorder and is among the five most prevalent birth-related complications, especially in Southeast Asia. Thalassemia is classified into two main types-alpha-thalassemia and beta-thalassemia-based on the reduced or ab...
International journal of molecular sciences
Jun 11, 2024
The blood counts of α thalassemia carriers (α-thal) are similar to those of β thalassemia carriers, except for Hemoglobin A (Hb A), which is not elevated. The objective of this study was to determine whether mathematical formulas are effective for de...
European journal of preventive cardiology
Feb 4, 2020
AIMS: Familial hypercholesterolemia (FH) is the most common genetic disorder of lipid metabolism. The gold standard for FH diagnosis is genetic testing, available, however, only in selected university hospitals. Clinical scores - for example, the Dut...
BACKGROUND: Identification of Hürthle cell cancers by non-operative fine-needle aspiration biopsy (FNAB) of thyroid nodules is challenging. Resultingly, non-cancerous Hürthle lesions were conventionally distinguished from Hürthle cell cancers by hist...
Non-manifesting carriers (NMC) of the G2019S mutation in the LRRK2 gene represent an "at risk" group for future development of Parkinson's disease (PD) and have demonstrated task related fMRI changes. However, resting-state networks have received les...
Thalassemia is considered one of the most common genetic blood disorders that has received excessive attention in the medical research fields worldwide. Under this context, one of the greatest challenges for healthcare professionals is to correctly d...
Non-syndromic stuttering is a neurodevelopmental disorder characterized by disruptions in normal flow of speech in the form of repetition, prolongation and involuntary halts. Previously, mutations with more severe effects on GNPTAB and GNPTG have bee...
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