The sensitivity and specificity of fine needle aspiration cytology in detecting thyroid malignancy according to Bethesda system at a teaching hospital in Saudi Arabia.

Background: The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) aims to standardize the terminology and morphologic criteria associated with thyroid fine-needle aspiration cytology (FNAC) results while also providing corresponding risk assessments for malignancy. contributing to more consistent and standardized reporting of thyroid nodules and aiding clinicians in making informed decisions. Since then, it has been undergoing revisions and updates to further improve its utility and accuracy.

pathogenic variant: genomic-phenotypic analysis.

The mediator complex subunit 23 () gene encodes a protein that acts as a tail module mediator complex, a multi-subunit co-activator involved in several cellular activities. has been shown to have substantial roles in myogenesis and other molecular mechanisms. The functions of in the neurological system remain unclear and the clinical phenotype is not thoroughly described.

Current Concepts in the Management of Sanfilippo Syndrome (MPS III): A Narrative Review.

Sanfilippo syndrome is a childhood-onset (1-4 years) autosomal recessive lysosomal storage disease that presents as a neurodegenerative disease by targeting the brain and spinal cord. It is also known as mucopolysaccharidosis III. Mucopolysaccharidosis III is divided into four subtypes (A, B, C, or D).

Phenotypic and Molecular Spectrum of Guanidinoacetate N-Methyltransferase Deficiency: An Analytical Study of a Case Series and a Scoping Review of 53 Cases of Guanidinoacetate N-Methyltransferase.

Background: Guanidinoacetate methyltransferase deficiency (GAMT) is an autosomal recessive inborn error of metabolism. A condition that results from a pathogenic variant in the GAMT gene that maps to 19p13.3.