scholarly journals Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia

2020 ◽  
Vol 9 (11) ◽  
pp. 3603
Author(s):  
Noelia Baz-Redón ◽  
Sandra Rovira-Amigo ◽  
Mónica Fernández-Cancio ◽  
Silvia Castillo-Corullón ◽  
Maria Cols ◽  
...  

Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins in human respiratory cells by fluorescence, has been recently proposed as a technique to improve understanding of disease-causing genes and diagnosis rate in PCD. The objective of this study is to determine the accuracy of a panel of four fluorescently labeled antibodies (DNAH5, DNALI1, GAS8 and RSPH4A or RSPH9) as a PCD diagnostic tool in the absence of transmission electron microscopy analysis. The panel was tested in nasal brushing samples of 74 patients with clinical suspicion of PCD. Sixty-eight (91.9%) patients were evaluable for all tested antibodies. Thirty-three cases (44.6%) presented an absence or mislocation of protein in the ciliary axoneme (15 absent and 3 proximal distribution of DNAH5 in the ciliary axoneme, 3 absent DNAH5 and DNALI1, 7 absent DNALI1 and cytoplasmatic localization of GAS8, 1 absent GAS8, 3 absent RSPH9 and 1 absent RSPH4A). Fifteen patients had confirmed or highly likely PCD but normal immunofluorescence results (68.8% sensitivity and 100% specificity). In conclusion, immunofluorescence analysis is a quick, available, low-cost and reliable diagnostic test for PCD, although it cannot be used as a standalone test.

Materials ◽  
2021 ◽  
Vol 14 (6) ◽  
pp. 1332
Author(s):  
Florian Riedlsperger ◽  
Bernadette Gsellmann ◽  
Erwin Povoden-Karadeniz ◽  
Oriana Tassa ◽  
Susanna Matera ◽  
...  

A thermokinetic computational framework for precipitate transformation simulations in Ta-containing martensitic Z-steels was developed, including Calphad thermodynamics, diffusion mobility data from the literature, and a kinetic parameter setup that considered precipitation sites, interfacial energies and dislocation density evolution. The thermodynamics of Ta-containing subsystems were assessed by atomic solubility data and enthalpies from the literature as well as from the experimental dissolution temperature of Ta-based Z-phase CrTaN obtained from differential scanning calorimetry. Accompanied by a comprehensive transmission electron microscopy analysis of the microstructure, thermokinetic precipitation simulations with a wide-ranging and well-documented set of input parameters were carried out in MatCalc for one sample alloy. A special focus was placed on modelling the transformation of MX into the Z-phase, which was driven by Cr diffusion. The simulation results showed excellent agreement with experimental data in regard to size, number density and chemical composition of the precipitates, showing the usability of the developed thermokinetic simulation framework.


Author(s):  
Hongyan Xu ◽  
Jing Guo ◽  
Qing Meng ◽  
Zhanling Xie

<i>Morchella</i> is a genus of edible fungi with strong resistance to Cd and the ability to accumulate it in the mycelium. However, the mechanisms conferring Cd resistance in <i>Morchella</i> are unknown. In the present study, morphological and physiological responses to Cd were evaluated in the mycelia of <i>Morchella spongiola</i>. Variations in hyphal micro-morphology including twisting, folding and kinking in mycelia exposed to different Cd concentrations (0.15, 0.9, 1.5, 2.4, 5.0 mg/L) were observed using scanning electron microscopy. Deposition of Cd precipitates on cell surfaces (at Cd concentrations > 2.4 mg/L) was shown by SEM-EDS. Transmission electron microscopy analysis of cells exposed to different concentrations of Cd revealed the loss of intracellular structures and the localization of Cd depositions inside/outside the cell. FTIR analysis showed that functional groups such as C=O, -OH, -NH and -CH could be responsible for Cd binding on the cell surface of <i>M. spongiola</i>. In addition, intracellular accumulation was observed in cultures at low Cd concentrations (< 0.9 mg/L), while extracellular adsorption occurred at higher concentrations. These results provide valuable information on the Cd tolerance mechanism in <i>M. spongiola</i> and constitute a robust foundation for further studies on fungal bioremediation strategies.


Sign in / Sign up

Export Citation Format

Share Document