Research in the Area of Primary Ciliary Dyskinesia Reported from Ponce Health Sciences University (Advancing Primary Ciliary Dyskinesia Diagnosis through High-Speed Video Microscopy Analysis).

Předmět:	CILIARY motility disorders VIDEO microscopy DYSKINESIAS DIAGNOSIS MOVEMENT disorders RESPIRATORY diseases CENTRAL nervous system diseases
Zdroj:	Genomics & Genetics Weekly; 4/12/2024, p1704-1704, 1p
Abstrakt:	A recent study conducted by researchers at Ponce Health Sciences University in Puerto Rico has focused on primary ciliary dyskinesia (PCD), an inherited disorder that affects motile cilia and respiratory health. The study utilized High-Speed Video Microscopy Analysis (HSVA) to diagnose and characterize the RSPH4A founder mutation in Puerto Rican patients with PCD. The results showed decreased ciliary beat frequency and a rotational ciliary beat pattern associated with the mutation. The integration of HSVA technology in Puerto Rico has improved the evaluation and diagnosis of PCD, potentially serving as a model for similar developments in Latin America. [Extracted from the article]
Databáze:	Complementary Index
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