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Tracheal and Bronchial Developmental Abnormalities, and Inflammatory Diseases including Bronchiectasis, Cystic Fibrosis and Bronchiolitis.
Published in Fred W Wright, Radiology of the Chest and Related Conditions, 2022
This condition also predisposes to chronic chest infections and bronchiectasis. Afzelius (1976) and Afzelius and Mossberg (1980) found that in men with immotile sperms, the cilia in the respiratory tract and elsewhere showed a similar defect. It may be the cause of some cases of chronic bronchitis (Trapnell, 1982). The abnormality is found in about half of the patients with Kartagener's syndrome (situs inversus, chronic sinusitis and bronchiectasis). This usually presents in childhood with a history of excessive nasal discharge, infections and the finding of nasal polyps. Nadel et al. (1985) studied its radiological appearances and found them to be non-specific; early changes including bronchial wall thickening, with or without hyperinflation. They illustrated their cases with electron micrographs showing - (i) complete dynein defect, (ii) radial spoke defect, and (iii) microtubular transposition. Greenstone et al. (1988) re-termed it the
Genetic Analysis of Sperm Motility
Published in Claude Gagnon, Controls of Sperm Motility, 2020
What is the role of the radial spoke system in flagellar movement? The suppf 1 mutation was originally identified because it restored motility to cells carrying mutations which affected the radial spoke system, such as pf17. When the position of suppf1 was mapped, however, its locus was not the same as pf17, nor were radial spokeheads restored to cells carrying suppf1.17 Since flagellar movement occurs in the absence of radial spokeheads, this suggests that these structures are not necessary for flagellar movement.
Paradoxical response to carbonic anhydrase inhibitors in patients with intraretinal cystoid spaces
Published in Ophthalmic Genetics, 2019
T. A. C. de Guimaraes, J. E. Capasso, A. V. Levin
This 5-year-old boy presented with reduced vision in the left eye more than right. He was adopted at 2 years old from Russia. His biological family history is unknown. Visual acuity was 20/25 right eye and 20/40 left eye. Fundus examination showed a stellate/radial spoke-wheel pattern of the perifoveal nerve fiber layer. RS1 sequence analysis showed a previously reported hemizygous pathogenic mutation: c.421C>T (p.R141C) (12). As he is adopted, biologic family members were not available for segregation studies. His clinical course during treatment is shown in Figure 2. He had a favorable response to carbonic anhydrase inhibitors in terms of retinal thickness although his vision progressed to 20/50 right eye and 20/60 left eye over the ensuing 9 months. Because his retinal thickness stopped improving, the medications were stopped (Figure 2). Subsequently, retinal thickness improved and after 2 years of follow-up, his retinal structure is stable with visual acuity of 20/50 both eyes, despite the decrease in retinal thickness.
Orchestrating the expression levels of sperm mRNAs reveals CCDC174 as an important determinant of semen quality and bull fertility
Published in Systems Biology in Reproductive Medicine, 2021
Sellappan Selvaraju, Divakar Swathi, Laxman Ramya, Maharajan Lavanya, Santhanahalli Siddalingappa Archana, Muniandy Sivaram
The relative mRNA expression levels of SWI5, RPL36A, CCDC174, OIT3 and TMCO2 in sperm were up-regulated and importantly, CCDC174 was found to be 6.2 fold higher in high-fertile as compared to sub-fertile bulls. Further, the expression levels of the CCDC174 had a significant correlation (p = 0.02) with the conception rate. These differentially expressed genes may have a role during spermatogenesis and sperm function. To the best of our knowledge, the involvement of sperm-borne CCDC174 in sperm fertility regulation and especially on improving conception rate has not been reported in any species. The CCDC174 along with EIF4A3 is a major component of the exon junction complex, which is involved in RNA processing, translation and non-sense mediated decay in the neurons (Volodarsky et al. 2015). The CCDC174 together with PPP1R35 might regulate epididymal sperm maturation and motility through testis/sperm enriched protein phosphatase interacting proteins (Goswami et al. 2019). Earlier studies revealed that CCDC genes are regulating sperm fertility. For example, CCDC87 knockout mice were found to have reduced initial motility and progesterone-induced acrosome reaction (Wang et al. 2018). The mutations in other CCDC genes, CCDC39 and CCDC40 perturbed 9 + 2 microtubule cilia and sperm motility leading to the radial spoke defect (Antony et al. 2013). Since the transcriptional and translational activities are limited in sperm, the sperm containing CCDC174 may also probably be translated in the oocyte upon fertilization to support early embryonic development.
Mapping the human sperm proteome – novel insights into reproductive research
Published in Expert Review of Proteomics, 2023
Mika Alexia Miyazaki, Raquel Lozano Guilharducci, Paula Intasqui, Ricardo Pimenta Bertolla
The sperm cellular structure is unique compared to other cells. Containing head, midpiece and tail, the latter is responsible for sperm movement, which makes it an interesting structure to study. Beyond the changes in the protein expression pattern from the energy metabolism pathway, it was noted that the sperm tail proteome is different in AZS samples. Saraswat and colleagues [56] found that, out of the 667 identified proteins, 8 significant proteins were downregulated after their UPLC-MS analysis in sperm. Of these, Ninein, Fascin-3, and Plexin-B2 are directly connected to axoneme activation, responsible for tail movement. FSCN3 is a testis Fascin and it is concentrated in the sperm head [63], but unlike evidence found in human sperm, in mice in the absence of this protein, the animals can still be fertile and without impairing significant spermatogenesis or the ability to fertilize with Fscn3−/− mice model [64]. Several proteins have been shown to be dysregulated in sperm from AZS patients. For example: RhoGDI upregulation blocks RhoA, which participates in the axonemal functionality [56]. Radial spoke head protein 9 homolog (RSPH9) and Radial spoke head protein 4 homolog A (RSPH4A) are downregulated in Sperm flagellar protein2 (SPEF2) mutations [65]. SPEF2 is a protein crucial for sperm function, mainly for tail movement. Depletion of Spef2 exons 3–5 resulted in male infertility in mice, caused by a drastic decrease in spermatozoa count, as well as to absent sperm tails in epididymal sperm [66]. Finally, protein disulfide-isomerase A3 (PDIA3), which is part of the axoneme structure, lower expression was identified in AZS obesity-associated infertility [53]. Besides that, morphological abnormalities of the sperm flagellum (MMAF) caused by SPEF2 mutations affect sperm flagellar assembly proteins, as well as the ubiquitination process, since it plays an important role in spermatogenesis and flagellar assembly [65]. Furthermore, SPANX-A/D, a protein family with an unknown role, was found to be localized in the sperm nucleus, cytoplasm, and flagellum, and was downregulated in oligoasthenoteratozoospermic men [67]. Noteworthy, SPANXB1, which has already been related to defective spermatogenesis, was in increased abundance in hypogonadic patients [68]. These findings place SPANX-A/D as important markers to be further studied in the field of male fertility.