Transmission electron microscopy study of suspected primary ciliary dyskinesia patients.

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive condition often presenting with chronic respiratory infections in early life. Transmission electron microscopy (TEM) is used to detect ciliary ultrastructural defects. In this study, we aimed to assess ciliary ultrastructural defects using quantitative methods on TEM to identify its diagnostic role in confirming PCD. Nasal samples of 67 patients, including 37 females and 30 males (20.3 ± 10.7 years old), with suspected PCD symptoms were examined by TEM. The most common presentations were bronchiectasis: 26 (38.8%), chronic sinusitis: 23 (34.3%), and recurrent lower respiratory infections: 21 (31.3%). Secondary ciliary dyskinesia, including compound cilia (41.4%) and extra-tubules (44.3%), were the most prevalent TEM finding. Twelve patients (17.9%) had hallmark diagnostic criteria for PCD (class 1) consisting of 11 (16.4%) outer and inner dynein arm (ODA and IDA) defects and only one concurrent IDA defect and microtubular disorganization. Also, 11 patients (16.4%) had probable criteria for PCD (class 2), 26 (38.8%) had other defects, and 18 (26.9%) had normal ciliary ultrastructure. Among our suspected PCD patients, the most common ultrastructural ciliary defects were extra-tubules and compound cilia. However, the most prevalent hallmark diagnostic defect confirming PCD was simultaneous defects of IDA and ODA.

P-MMR and LDN beside MMN as Speech-evoked Neural Markers in Children with Cochlear Implants: A Review.

This review mainly explores less-reported neural markers to speech-evoked contrasts in children with cochlear implants (CI). Databases and electronic journals were searched with keywords of "mismatch responses" AND "positive mismatch response" (p-MMR) AND "late discriminate negativity" (LDN). P-MMR likely is as a measurement of brain immaturity in CI children while the developmental trajectories of LDN remain unexplained in older CI children. In CI children, there is a p-MMR-MMN-LDN sequence to speech stimuli developmentally. Whereas these aforementioned neural responses anticipate developmental changes in CI groups, it is still uncertain about the cutoff age for disappearance of p-MMR and LDN.