Publications by authors named "Yuanfeng Miao"
Article Synopsis
- A rare case of posterior reversible encephalopathy syndrome (PRES) is reported in a 60-year-old man with essential thrombocythemia (ET), characterized by progressive visual loss and cortical blindness.
- MRI indicated restricted diffusion in the parietal and occipital lobes, coinciding with a high platelet count that confirmed ET after excluding other conditions.
- Treatment with hydroxyurea and sodium bicarbonate led to rapid disappearance of MRI lesions and normalization of vision, although the patient experienced hallucinatory palinopsia during recovery, suggesting that ET may increase the risk for PRES.
Objective: Pleckstrin homology domain-containing family G member 5 () is a nuclear factor-κ-B-activator gene that predominantly expresses in the neurons and Schwann cells of the peripheral nervous system. Variations in the have shown an intermediate form of autosomal recessive Charcot-Marie-Tooth disease and lower motor neuron disease in childhood.
Materials And Methods: This study investigated clinically, electrophysiologically, genetically, and pathologically a young girl with lower motor neuron disease who had weakness and wasting of all limbs starting in early childhood.
Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study.
Ann Clin Transl Neurol
April 2021
Objective: This study aims to report the genotypes and phenotypes of hereditary transthyretin amyloidosis (ATTR) in a large Chinese cohort, yet the clinical and genetic profiles of ATTR remain elusive in mainland China.
Methods: Fifty-four patients with molecularly confirmed ATTR from 39 unrelated families were identified by sequencing the TTR gene. Sural nerve biopsies were performed in 40 of these cases.