Nisreen Rumman, Mahmoud R Fassad, Corine Driessens, Patricia Goggin, Nader Abdelrahman, Adel Adwan, Mutaz Albakri, Jagrati Chopra, Regan Doherty, Bishara Fashho, Grace M Freke, Abdallah Hasaballah, Claire L Jackson, Mai A Mohamed, Reda Abu Nema, Mitali P Patel, Reuben J Pengelly, Ahmad Qaaqour, Bruna Rubbo, N Simon Thomas, James Thompson, Woolf T Walker, Gabrielle Wheway, Hannah M Mitchison, Jane S Lucas
BACKGROUND: Diagnostic testing for primary ciliary dyskinesia (PCD) started in 2013 in Palestine. We aimed to describe the diagnostic, genetic and clinical spectrum of the Palestinian PCD population. METHODS: Individuals with symptoms suggestive of PCD were opportunistically considered for diagnostic testing: nasal nitric oxide (nNO) measurement, transmission electron microscopy (TEM) and/or PCD genetic panel or whole-exome testing. Clinical characteristics of those with a positive diagnosis were collected close to testing including forced expiratory volume in 1 s (FEV1 ) Global Lung Index z-scores and body mass index z-scores...
March 2023: ERJ Open Research