Impact of Tafamidis on [Tc]Tc-pyrophosphate Scintigraphy in Ala97Ser Hereditary Transthyretin amyloid cardiomyopathy: significant initial reduction with stable Long-Term effects.

Objective: Tafamidis has shown potential in slowing disease progression in patients with transthyretin amyloid cardiomyopathy (ATTR-CM). This study aimed to evaluate serial changes on [Tc]Tc-pyrophosphate (PYP) scintigraphy during tafamidis treatment for hereditary ATTR-CM.

Methods: We retrospectively analyzed a prospectively collected cohort of Ala97Ser (A97S) hereditary ATTR-CM patients treated with tafamidis (61 mg/day) and a control group comprising A97S hereditary ATTR-CM patients who had not received disease-modifying medications.

Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases.

De novo synthesis of purines (DNPS) is a biochemical pathway that provides the purine bases for synthesis of essential biomolecules such as nucleic acids, energy transfer molecules, signaling molecules and various cofactors. Inborn errors of DNPS enzymes present with a wide spectrum of neurodevelopmental and neuromuscular abnormalities and accumulation of characteristic metabolic intermediates of the DNPS in body fluids and tissues. In this study, we present the second case of PAICS deficiency due to bi-allelic variants of PAICS gene encoding for a missense p.

Neck triangle nerve enlargement in hereditary transthyretin amyloidosis correlates with changes in the autonomic, cardiac, and gastrointestinal systems.

Background: Hereditary transthyretin amyloidosis (ATTRv) is a hereditary disease that affects multiple bodily systems. Although sonography generally reveals enlargement of nerves in the limbs, the brachial plexus, and vagus nerve, the clinical significance of these findings remains unclear.

Methods: We performed sonographic measurements of the median nerve, cervical spinal nerves at the C5-C7 level, and the vagus nerve in patients with ATTRv and healthy controls.