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Olfactory swab sampling optimization for α-synuclein aggregate detection in patients with Parkinson’s disease

Translational Neurodegeneration 2022年第1期11卷 390-400页

作者： Matilde Bongianni Mauro Catalan Daniela Perra Elena Fontana Francesco Janes Claudio Bertolotti Luca Sacchetto Stefano Capaldi Matteo Tagliapietra Paola Polverino valentina tommasini Giulia Bellavita Elham Ataie Kachoie Roberto Baruca Andrea Bernardini Mariarosaria Valente Michele Fiorini Erika Bronzato Stefano Tamburin Laura Bertolasi Lorenzo Brozzetti Maria Paola Cecchini Gianluigi Gigli Salvatore Monaco Paolo Manganotti Gianluigi Zanusso Department of Neurosciences Biomedicineand Movement SciencesPoliclinico G.B.RossiUniversity of Verona37134 VeronaItaly Neurology Unit Department of MedicineSurgery and Health SciencesOspedale CattinaraUniversity of Trieste34128 TriesteItaly Neurology Unit University of Udine Academic Hospital33100 UdineItaly Department of Surgical Sciences DentistryGynecology and PediatricsUniversity of Verona37134 VeronaItaly Biocrystallography Laboratory Department of BiotechnologyUniversity of Verona37134 VeronaItaly Otolaryngology Unit Department of MedicineSurgery and Health SciencesOspedale CattinaraUniversity of Trieste34128 TriesteItaly.

Background: In patients with Parkinson’s disease (PD), real-time quaking-induced conversion (RT-QuIC) detection of pathological α-synuclein (α-syn) in olfactory mucosa (OM) is not as accurate as in other α-synucleinopathies. It is unknown whether these variable results might be related to a different distribution of pathological α-syn in OM. Thus, we investigated whether nasal swab (NS) performed in areas with a different coverage by olfactory neuroepithelium, such as agger nasi (AN) and middle turbinate (MT), might affect the detection of pathological α-syn. Methods: NS was performed in 66 patients with PD and 29 non-PD between September 2018 and April 2021. In 43 patients, cerebrospinal fluid (CSF) was also obtained and all samples were analyzed by RT-QuIC for α-syn. Results: In the first round, 72 OM samples were collected by NS, from AN (NSAN) or from MT (NSMT), and 35 resulted positive for α-syn RT-QuIC, including 27/32 (84%) from AN, 5/11 (45%) from MT, and 3/29 (10%) belonging to the non-PD patients. Furthermore, 23 additional PD patients underwent NS at both AN and MT, and RT-QuIC revealed α-syn positive in 18/23 (78%) NSAN samples and in 10/23 (44%) NSMT samples. Immunocytochemistry of NS prepara-tions showed a higher representation of olfactory neural cells in NSAN compared to NSMT. We also observed α-syn and phospho-α-syn deposits in NS from PD patients but not in controls. Finally, RT-QuIC was positive in 22/24 CSF samples from PD patients (92%) and in 1/19 non-PD. Conclusion: In PD patients, RT-QuIC sensitivity is significantly increased (from 45% to 84%) when NS is performed at AN, indicating that α-syn aggregates are preferentially detected in olfactory areas with higher concentration of olfactory neurons. Although RT-QuIC analysis of CSF showed a higher diagnostic accuracy compared to NS, due to the non-invasiveness, NS might be considered as an ancillary procedure for PD diagnosis.

关键词： Parkinson disease Alpha-synuclein Real-time quaking-induced conversion assay Olfactory mucosa Cerebrospinal fluid

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Druggable monogenic immune defects hidden in diverse medical specialties:Focus on overlap syndromes

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World Journal of Clinical Pediatrics 2022年第2期11卷 136-150页

作者： valentina Boz Chiara Zanchi Laura Levantino Guglielmo Riccio Alberto tommasini Department of Medical Surgical and Health SciencesUniversity of TriesteTrieste 34137Italy Department of Pediatrics Institute for Maternal and Child HealthIRCCS Burlo GarofoloTrieste 34137Italy

In the last two decades two new paradigms changed our way of perceiving primary immunodeficiencies:An increasing number of immune defects are more associated with inflammatory or autoimmune features rather than with *** primary immune defects are due to hyperactive pathways that can be targeted by specific inhibitors,providing innovative precision treatments that can change the natural history of *** this article we review some of these“druggable”inborn errors of immunity and describe how they can be suspected and diagnosed in diverse pediatric and adult medicine *** the availability of precision treatments can dramatically impact the course of these diseases,preventing the development of organ damage,it is crucial to widen the awareness of these conditions and to provide practical hints for a prompt detection and cure.

关键词： Inborn errors of immunity Primary immunodeficiency diseases Precision treatments Immunodysregulation Autoimmunity Overlap syndromes

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Correction: Olfactory swab sampling optimization for α-synuclein aggregate detection in patients with Parkinson’s disease

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Translational Neurodegeneration 2022年第1期11卷 389-389页

Correction:Translational Neurodegeneration(2022)11:37 https://***/10.1186/s40035-022-00311-3 In the original publication of this article[1],“AN”is miss-ing in the column heading“Patients underwent NS at the(n=46)”in Table 1 due to a typesetting *** correct column heading should be“Patients underwent NS at the AN(n=46)”.Moreover,the asterisk symbol*in“27(84)*”and“5(45)*”should be *** addition,the phrase“using FLOQBrushes(Copan Italia,Brescia,Italy)”needs be added in the first sentence under the header“OM sample collection”of the Methods section.

关键词： heading optimization removed

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