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  1. Article ; Online: Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of

    Ogonowski, Natalia / Santamaria-Garcia, Hernando / Baez, Sandra / Lopez, Andrea / Laserna, Andrés / Garcia-Cifuentes, Elkin / Ayala-Ramirez, Paola / Zarante, Ignacio / Suarez-Obando, Fernando / Reyes, Pablo / Kauffman, Marcelo / Cochran, Nick / Schulte, Michael / Sirkis, Daniel W / Spina, Salvatore / Yokoyama, Jennifer S / Miller, Bruce L / Kosik, Kenneth S / Matallana, Diana /
    Ibáñez, Agustín

    Journal of medical genetics

    2023  Volume 60, Issue 9, Page(s) 894–904

    Abstract: ... of neuroinflammatory processes in neurodegeneration. To date, the p.H157Y variant of : Methods: To determine ... if the p.H157Y variant might be associated with a specific FTD presentation, we compared in each study ...

    Abstract Background: The triggering receptor expressed on myeloid cell 2 (TREM2) is a major regulator of neuroinflammatory processes in neurodegeneration. To date, the p.H157Y variant of
    Methods: To determine if the p.H157Y variant might be associated with a specific FTD presentation, we compared in each study the cases with age-matched, sex-matched and education-matched groups-a healthy control group (HC) and a group with FTD with neither
    Results: The two Colombian cases presented with early behavioural changes, greater impairments in general cognition and executive function compared with both HC and Ng-FTD groups. These patients also exhibited brain atrophy in areas characteristic of FTD. Furthermore, TREM2 cases showed increased atrophy compared with Ng-FTD in frontal, temporal, parietal, precuneus, basal ganglia, parahippocampal/hippocampal and cerebellar regions. The Mexican case presented with FTD and motor neuron disease (MND), showing grey matter reduction in basal ganglia and thalamus, and extensive TDP-43 type B pathology.
    Conclusion: In all TREM2 cases, multiple atrophy peaks overlapped with the maximum peaks of
    MeSH term(s) Humans ; Frontotemporal Dementia/genetics ; Frontotemporal Dementia/pathology ; Alzheimer Disease/genetics ; Alzheimer Disease/pathology ; Brain/diagnostic imaging ; Brain/pathology ; Atrophy ; Membrane Glycoproteins/genetics ; Receptors, Immunologic/genetics
    Chemical Substances TREM2 protein, human ; Membrane Glycoproteins ; Receptors, Immunologic
    Language English
    Publishing date 2023-02-22
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmg-2022-108627
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Management of pregnancy in autoimmune rheumatic diseases: maternal disease course, gestational and neonatal outcomes and use of medications in the prospectiveItalian P-RHEUM.it study.

    Andreoli, Laura / Gerardi, Maria Chiara / Gerosa, Maria / Rozza, Davide / Crisafulli, Francesca / Erra, Roberta / Lini, Daniele / Trespidi, Laura / Padovan, Melissa / Ruffilli, Francesca / Serale, Francesca / Cuomo, Giovanna / Raffeiner, Bernd / Semeraro, Paolo / Tani, Chiara / Chimenti, Maria Sole / Conigliaro, Paola / Hoxha, Ariela / Nalli, Cecilia /
    Fredi, Micaela / Lazzaroni, Maria Grazia / Filippini, Matteo / Taglietti, Marco / Franceschini, Franco / Zatti, Sonia / Loardi, Chiara / Orabona, Rossana / Ramazzotto, Francesca / Zanardini, Cristina / Fontana, Giulia / Gozzoli, Giorgia / Barison, Claudia / Bizioli, Paola / Caporali, Roberto Felice / Carrea, Giulia / Ossola, Manuela Wally / Maranini, Beatrice / Silvagni, Ettore / Govoni, Marcello / Morano, Danila / Verteramo, Rosita / Doria, Andrea / Del Ross, Teresa / Favaro, Maria / Calligaro, Antonia / Tonello, Marta / Larosa, Maddalena / Zen, Margherita / Zambon, Alessandra / Mosca, Marta / Zucchi, Dina / Elefante, Elena / Gori, Sabrina / Iannone, Florenzo / Anelli, Maria Grazia / Lavista, Marlea / Abbruzzese, Anna / Fasano, Carlo Giuseppe / D'Angelo, Salvatore / Cutro, Maria Stefania / Picerno, Valentina / Carbone, Teresa / Padula, Angela Anna / Rovere-Querini, Patrizia / Canti, Valentina / De Lorenzo, Rebecca / Cavallo, Ludovica / Ramoni, Véronique / Montecucco, Carlomaurizio / Codullo, Veronica / Milanesi, Alessandra / Pazzola, Giulia / Comitini, Giuseppina / Marvisi, Chiara / Salvarani, Carlo / Epis, Oscar Massimiliano / Benedetti, Sara / Di Raimondo, Giuseppina / Gagliardi, Clizia / Lomater, Claudia / Crepaldi, Gloria / Bellis, Elisa / Bellisai, Francesca / Garcia Gonzalez, Estrella / Pata, Anna Paola / Zerbinati, Martina / Urban, Maria Letizia / Mattioli, Irene / Iuliano, Annamaria / Sebastiani, Giandomenico / Brucato, Antonio Luca / Bizzi, Emanuele / Cutolo, Maurizio / Santo, Leonardo / Tonetta, Sara / Landolfi, Gianpiero / Carrara, Greta / Bortoluzzi, Alessandra / Scirè, Carlo Alberto / Tincani, Angela

    RMD open

    2024  Volume 10, Issue 2

    Abstract: ... in the Italian prospective cohort study P-RHEUM.it.: Methods: Pregnant women with different ARD were enrolled ...

    Abstract Objectives: To investigate pregnancy outcomes in women with autoimmune rheumatic diseases (ARD) in the Italian prospective cohort study P-RHEUM.it.
    Methods: Pregnant women with different ARD were enrolled for up to 20 gestational weeks in 29 Rheumatology Centres for 5 years (2018-2023). Maternal and infant information were collected in a web-based database.
    Results: We analysed 866 pregnancies in 851 patients (systemic lupus erythematosus was the most represented disease, 19.6%). Maternal disease flares were observed in 135 (15.6%) pregnancies. 53 (6.1%) pregnancies were induced by assisted reproduction techniques, 61 (7%) ended in miscarriage and 11 (1.3%) underwent elective termination. Obstetrical complications occurred in 261 (30.1%) pregnancies, including 2.3% pre-eclampsia. Two cases of congenital heart block were observed out of 157 pregnancies (1.3%) with anti-Ro/SSA. Regarding treatments, 244 (28.2%) pregnancies were treated with glucocorticoids, 388 (44.8%) with hydroxychloroquine, 85 (9.8%) with conventional synthetic disease-modifying anti-rheumatic drugs and 122 (14.1%) with biological disease-modifying anti-rheumatic drugs. Live births were 794 (91.7%), mostly at term (84.9%); four perinatal deaths (0.5%) occurred. Among 790 newborns, 31 (3.9%) were small-for-gestational-age and 169 (21.4%) had perinatal complications. Exclusive maternal breast feeding was received by 404 (46.7%) neonates. The Edinburgh Postnatal Depression Scale was compiled by 414 women (52.4%); 89 (21.5%) scored positive for emotional distress.
    Conclusions: Multiple factors including preconception counselling and treat-to-target with pregnancy-compatible medications may have contributed to mitigate disease-related risk factors, yielding limited disease flares, good pregnancy outcomes and frequency of complications which were similar to the Italian general obstetric population. Disease-specific issues need to be further addressed to plan preventative measures.
    MeSH term(s) Humans ; Pregnancy ; Female ; Adult ; Prospective Studies ; Autoimmune Diseases/epidemiology ; Autoimmune Diseases/drug therapy ; Pregnancy Outcome/epidemiology ; Rheumatic Diseases/drug therapy ; Rheumatic Diseases/epidemiology ; Rheumatic Diseases/complications ; Infant, Newborn ; Pregnancy Complications/epidemiology ; Pregnancy Complications/drug therapy ; Antirheumatic Agents/therapeutic use ; Antirheumatic Agents/adverse effects ; Italy/epidemiology ; Glucocorticoids/therapeutic use ; Hydroxychloroquine/therapeutic use ; Hydroxychloroquine/adverse effects
    Chemical Substances Antirheumatic Agents ; Glucocorticoids ; Hydroxychloroquine (4QWG6N8QKH)
    Language English
    Publishing date 2024-04-24
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Multicenter Study
    ZDB-ID 2812592-7
    ISSN 2056-5933 ; 2056-5933
    ISSN (online) 2056-5933
    ISSN 2056-5933
    DOI 10.1136/rmdopen-2024-004091
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Hereditary motor sensory neuropathy with proximal involvement (HMSN-P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease-like clinical picture.

    Cabras, Sara / Di Pede, Francesca / Canosa, Antonio / Grassano, Maurizio / Mongini, Tiziana Enrica / Gadaleta, Giulio / Calvo, Andrea / Chiò, Adriano / Moglia, Cristina / Gallone, Salvatore

    Muscle & nerve

    2024  

    Language English
    Publishing date 2024-03-27
    Publishing country United States
    Document type Letter
    ZDB-ID 438353-9
    ISSN 1097-4598 ; 0148-639X
    ISSN (online) 1097-4598
    ISSN 0148-639X
    DOI 10.1002/mus.28088
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  4. Article ; Online: Differences Between Plasma and Cerebrospinal Fluid p-tau181 and p-tau231 in Early Alzheimer's Disease.

    Pilotto, Andrea / Parigi, Marta / Bonzi, Giulio / Battaglio, Beatrice / Ferrari, Elisabetta / Mensi, Lorenza / Benussi, Alberto / Caratozzolo, Salvatore / Cosseddu, Maura / Turrone, Rosanna / Archetti, Silvana / Ashton, Nicholas J / Zetterberg, Henrik / Giliani, Silvia / Padovani, Alessandro

    Journal of Alzheimer's disease : JAD

    2022  Volume 87, Issue 3, Page(s) 991–997

    Abstract: ... cerebrospinal fluid (CSF) p-tau181 and p-tau231 levels were elevated in the early symptomatic stages of AD. Plasma p ... tau231 and p-tau181 were strongly related to CSF phosphorylated tau, total tau and amyloid and exhibited ... a high accuracy-close to CSF p-tau231 and p-tau181-to identify AD already in the early stage ...

    Abstract Plasma phosphorylated tau species have been recently proposed as peripheral markers of Alzheimer's disease (AD) pathology. In this cross-sectional study including 91 subjects, plasma and cerebrospinal fluid (CSF) p-tau181 and p-tau231 levels were elevated in the early symptomatic stages of AD. Plasma p-tau231 and p-tau181 were strongly related to CSF phosphorylated tau, total tau and amyloid and exhibited a high accuracy-close to CSF p-tau231 and p-tau181-to identify AD already in the early stage of the disease. The findings might support the use as diagnostic and prognostic peripheral AD biomarkers in both research and clinical settings.
    MeSH term(s) Alzheimer Disease/cerebrospinal fluid ; Amyloid beta-Peptides/cerebrospinal fluid ; Biomarkers/cerebrospinal fluid ; Cross-Sectional Studies ; Humans ; Phosphorylation ; tau Proteins/cerebrospinal fluid
    Chemical Substances Amyloid beta-Peptides ; Biomarkers ; tau Proteins
    Language English
    Publishing date 2022-04-11
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1440127-7
    ISSN 1875-8908 ; 1387-2877
    ISSN (online) 1875-8908
    ISSN 1387-2877
    DOI 10.3233/JAD-215646
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  5. Article ; Online: MIS-C and co-infection with P. vivax and P. falciparum in a child: a clinical conundrum.

    Scalisi, Michela / Giordano, Salvatore / Canduscio, Laura Antonella / Failla, Maria Concetta / Messina, Luca / Sferrazza, Elisa / Rubino, Raffaella / Siracusa, Lucia / Vanella, Veronica / Cascio, Antonio / Colomba, Claudia

    Italian journal of pediatrics

    2022  Volume 48, Issue 1, Page(s) 130

    Abstract: Background: The ongoing Coronavirus Disease 2019 (COVID-19) epidemic represents an unprecedented global health challenge. Many COVID-19 symptoms are similar to symptoms that can occur in other infections. Malaria should always be considered in patients ... ...

    Abstract Background: The ongoing Coronavirus Disease 2019 (COVID-19) epidemic represents an unprecedented global health challenge. Many COVID-19 symptoms are similar to symptoms that can occur in other infections. Malaria should always be considered in patients with SARS-CoV-2 infection returning from endemic areas.
    Case presentation: We present the first case of multisystem inflammatory syndrome (MIS-C) and Plasmodium vivax-falciparum and SARS-CoV2 coinfection in children. Despite clearance of parassitaemia and a negative COVID-19 nasopharyngeal PCR, the patient's clinical conditions worsened. The World Health Organization (WHO) criteria were used to make the diagnosis of MIS-C. Treatment with intravenous immunoglobulins and methylprednisolone was effective.
    Conclusions: This case emphasizes the importance of considering malaria diagnosis in patients returning from endemic areas, even in the COVID 19 era. Malaria and SARS-CoV2 co-infection may increase the risk of MIS-C, for which early detection is critical for proper management.
    MeSH term(s) COVID-19/complications ; Child ; Coinfection/diagnosis ; Humans ; Malaria/diagnosis ; Malaria/drug therapy ; Malaria/epidemiology ; Plasmodium falciparum ; RNA, Viral ; SARS-CoV-2 ; Systemic Inflammatory Response Syndrome
    Chemical Substances RNA, Viral
    Language English
    Publishing date 2022-07-27
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 2088556-8
    ISSN 1824-7288 ; 1720-8424
    ISSN (online) 1824-7288
    ISSN 1720-8424
    DOI 10.1186/s13052-022-01311-9
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  6. Article ; Online: Global cognitive function correlates with P-wave dispersion in frail hypertensive older adults.

    Mone, Pasquale / Pansini, Antonella / Calabrò, Francesco / De Gennaro, Stefano / Esposito, Mafalda / Rinaldi, Paolo / Colin, Antonio / Minicucci, Fabio / Coppola, Antonio / Frullone, Salvatore / Santulli, Gaetano

    Journal of clinical hypertension (Greenwich, Conn.)

    2022  Volume 24, Issue 5, Page(s) 638–643

    Abstract: P-Wave Dispersion (PWD) is an ECG parameter defined as the difference between the longest and ... the shortest P-Wave duration. PWD has been associated with hypertension, a leading cause of age-related ...

    Abstract P-Wave Dispersion (PWD) is an ECG parameter defined as the difference between the longest and the shortest P-Wave duration. PWD has been associated with hypertension, a leading cause of age-related cognitive decline. Moreover, hypertension is associated with vascular dementia and Alzheimer's Disease. Based on these considerations, we evaluated PWD and global cognitive function in frail hypertensive older adults with a previous diagnosis of cognitive decline. We evaluated consecutive frail hypertensive patients ≥65-year-old with a Mini-Mental State Examination (MMSE) score <26. Patients with evidence of secondary hypertension, history of stroke, myocardial infarction, or therapy with beta-blockers or acetylcholinesterase inhibitors were excluded. Beta-blocker therapy causes a significant decrease in PWD; patients treated with acetylcholinesterase inhibitors were not included to avoid confounding effects on cognitive function. By examining 180 patients, we found that PWD significantly correlated with MMSE score. Strikingly, these effects were confirmed in a linear multivariate analysis with a regression model. To our knowledge, this is the first study showing that PWD correlates with global cognitive function in frail hypertensive older adults.
    MeSH term(s) Acetylcholinesterase ; Aged ; Cholinesterase Inhibitors ; Cognition ; Cognitive Dysfunction/diagnosis ; Cognitive Dysfunction/etiology ; Frail Elderly ; Humans ; Hypertension/complications ; Hypertension/diagnosis ; Hypertension/drug therapy
    Chemical Substances Cholinesterase Inhibitors ; Acetylcholinesterase (EC 3.1.1.7)
    Language English
    Publishing date 2022-03-01
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2077222-1
    ISSN 1751-7176 ; 1524-6175
    ISSN (online) 1751-7176
    ISSN 1524-6175
    DOI 10.1111/jch.14439
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  7. Article ; Online: Radiolabeled Gold Nanoseeds Decorated with Substance P Peptides: Synthesis, Characterization and In Vitro Evaluation in Glioblastoma Cellular Models.

    Silva, Francisco / D'Onofrio, Alice / Mendes, Carolina / Pinto, Catarina / Marques, Ana / Campello, Maria Paula Cabral / Oliveira, Maria Cristina / Raposinho, Paula / Belchior, Ana / Di Maria, Salvatore / Marques, Fernanda / Cruz, Carla / Carvalho, Josué / Paulo, António

    International journal of molecular sciences

    2022  Volume 23, Issue 2

    Abstract: ... SP and AuNP-SPTyr8) with a small gold core (ca. 4 nm), carrying DOTA chelators and substance P (SP ...

    Abstract Despite some progress, the overall survival of patients with glioblastoma (GBM) remains extremely poor. In this context, there is a pressing need to develop innovative therapy strategies for GBM, namely those based on nanomedicine approaches. Towards this goal, we have focused on nanoparticles (AuNP-SP and AuNP-SPTyr8) with a small gold core (ca. 4 nm), carrying DOTA chelators and substance P (SP) peptides. These new SP-containing AuNPs were characterized by a variety of analytical techniques, including TEM and DLS measurements and UV-vis and CD spectroscopy, which proved their high in vitro stability and poor tendency to interact with plasma proteins. Their labeling with diagnostic and therapeutic radionuclides was efficiently performed by DOTA complexation with the trivalent radiometals
    MeSH term(s) Cell Line, Tumor ; Endocytosis ; Glioblastoma/drug therapy ; Gold/chemistry ; Humans ; Metal Nanoparticles/chemistry ; Models, Biological ; Peptides/chemical synthesis ; Peptides/chemistry ; Radiopharmaceuticals/chemistry ; Serum Albumin/metabolism ; Spectrophotometry, Ultraviolet ; Substance P/chemical synthesis ; Substance P/chemistry ; Transferrin/metabolism
    Chemical Substances Peptides ; Radiopharmaceuticals ; Serum Albumin ; Transferrin ; Substance P (33507-63-0) ; Gold (7440-57-5)
    Language English
    Publishing date 2022-01-06
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms23020617
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  8. Article ; Online: A patient with demyelinating CMT carrying the p.Y347C heterozygous variant of the MME gene and the p.L131F heterozygous variant of the HARS1 gene.

    Parisi, Mattia / Canosa, Antonio / Tessa, Alessandra / Ferrero, Bruno / Gallone, Salvatore

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2022  Volume 44, Issue 4, Page(s) 1455–1456

    MeSH term(s) Humans ; Charcot-Marie-Tooth Disease/genetics ; Mutation/genetics ; Heterozygote
    Chemical Substances MME (78185-58-7)
    Language English
    Publishing date 2022-12-15
    Publishing country Italy
    Document type Letter
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-022-06553-3
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  9. Article ; Online: P-SILI in critically ill COVID-19 patients: Macklin effect and the choice of noninvasive ventilatory support type.

    Belletti, Alessandro / Vetrugno, Luigi / Deana, Cristian / Palumbo, Diego / Maggiore, Salvatore M / Landoni, Giovanni

    Critical care (London, England)

    2023  Volume 27, Issue 1, Page(s) 38

    MeSH term(s) Humans ; COVID-19 ; Critical Illness/therapy ; Mediastinal Emphysema ; Respiration, Artificial
    Language English
    Publishing date 2023-01-24
    Publishing country England
    Document type Letter ; Comment
    ZDB-ID 2041406-7
    ISSN 1466-609X ; 1364-8535
    ISSN (online) 1466-609X
    ISSN 1364-8535
    DOI 10.1186/s13054-023-04313-z
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  10. Article ; Online: Pru p 3 sensitization in children with allergy to Parietaria pollens.

    Ciprandi, Giorgio / Del Barba, Paolo / Silvestri, Michela / Barberi, Salvatore / Tosca, Maria Angela

    Acta bio-medica : Atenei Parmensis

    2019  Volume 90, Issue 2, Page(s) 265–268

    Abstract: Background: Pru p 3 is the major allergen of the peach and belongs to the LTP family. Pru p 3 ... However, a previous experience partially downsized the potential danger of Pru p 3 sensitization in a group of adult ... rhinitics. This study aimed to evaluate the real impact of Pru p 3 sensitization in children in a real-world ...

    Abstract Background: Pru p 3 is the major allergen of the peach and belongs to the LTP family. Pru p 3 sensitization has been associated with severe allergic symptoms after eating LTP-containing foods. However, a previous experience partially downsized the potential danger of Pru p 3 sensitization in a group of adult rhinitics. This study aimed to evaluate the real impact of Pru p 3 sensitization in children in a real-world setting.
    Methods: 82 consecutive paediatric patients (55 males and 27 females, mean age 8.19±4.23 years) with allergic rhinitis due to Parietaria pollen allergy and sensitization to Pru p 3, documented by ISAC test, were evaluated. Serum IgE was measured by ImmunoCap method. Allergic symptoms occurring after ingesting LTP-containing foods were considered and scored as oral allergy syndrome, food allergy, and anaphylaxis.
    Results: About one-quarter of Pru p 3-sensitized children reported anaphylaxis after ingesting LTP-containing foods, about half reported food allergy or oral allergy syndrome. Only ¼ was merely sensitized.
    Conclusions: Pru p 3 sensitization deserves careful attention in children contrary to what might occur in adult patients. It could depend on the age and the serum IgE level. Thus, Pru p 3 sensitization should be adequately interepreted and managed in clinical practice.
    MeSH term(s) Age Factors ; Anaphylaxis/etiology ; Child ; Child, Preschool ; Cohort Studies ; Female ; Food Hypersensitivity/immunology ; Food Hypersensitivity/physiopathology ; Humans ; Immunization/adverse effects ; Italy ; Male ; Parietaria/immunology ; Patient Safety ; Retrospective Studies ; Rhinitis, Allergic/immunology ; Rhinitis, Allergic/physiopathology ; Rhinitis, Allergic, Seasonal/immunology ; Rhinitis, Allergic, Seasonal/prevention & control ; Risk Assessment
    Language English
    Publishing date 2019-05-23
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 2114240-3
    ISSN 2531-6745 ; 0392-4203
    ISSN (online) 2531-6745
    ISSN 0392-4203
    DOI 10.23750/abm.v90i2.7611
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