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  1. Article ; Online: An innovative artificial intelligence-based method to compress complex models into explainable, model-agnostic and reduced decision support systems with application to healthcare (NEAR).

    Kassem, Karim / Sperti, Michela / Cavallo, Andrea / Vergani, Andrea Mario / Fassino, Davide / Moz, Monica / Liscio, Alessandro / Banali, Riccardo / Dahlweid, Michael / Benetti, Luciano / Bruno, Francesco / Gallone, Guglielmo / De Filippo, Ovidio / Iannaccone, Mario / D'Ascenzo, Fabrizio / De Ferrari, Gaetano Maria / Morbiducci, Umberto / Della Valle, Emanuele / Deriu, Marco Agostino

    Artificial intelligence in medicine

    2024  Volume 151, Page(s) 102841

    Abstract: Background and objective: In everyday clinical practice, medical decision is currently based on clinical guidelines which are often static and rigid, and do not account for population variability, while individualized, patient-oriented decision and/or ... ...

    Abstract Background and objective: In everyday clinical practice, medical decision is currently based on clinical guidelines which are often static and rigid, and do not account for population variability, while individualized, patient-oriented decision and/or treatment are the paradigm change necessary to enter into the era of precision medicine. Most of the limitations of a guideline-based system could be overcome through the adoption of Clinical Decision Support Systems (CDSSs) based on Artificial Intelligence (AI) algorithms. However, the black-box nature of AI algorithms has hampered a large adoption of AI-based CDSSs in clinical practice. In this study, an innovative AI-based method to compress AI-based prediction models into explainable, model-agnostic, and reduced decision support systems (NEAR) with application to healthcare is presented and validated.
    Methods: NEAR is based on the Shapley Additive Explanations framework and can be applied to complex input models to obtain the contributions of each input feature to the output. Technically, the simplified NEAR models approximate contributions from input features using a custom library and merge them to determine the final output. Finally, NEAR estimates the confidence error associated with the single input feature contributing to the final score, making the result more interpretable. Here, NEAR is evaluated on a clinical real-world use case, the mortality prediction in patients who experienced Acute Coronary Syndrome (ACS), applying three different Machine Learning/Deep Learning models as implementation examples.
    Results: NEAR, when applied to the ACS use case, exhibits performances like the ones of the AI-based model from which it is derived, as in the case of the Adaptive Boosting classifier, whose Area Under the Curve is not statistically different from the NEAR one, even the model's simplification. Moreover, NEAR comes with intrinsic explainability and modularity, as it can be tested on the developed web application platform (https://neardashboard.pythonanywhere.com/).
    Conclusions: An explainable and reliable CDSS tailored to single-patient analysis has been developed. The proposed AI-based system has the potential to be used alongside the clinical guidelines currently employed in the medical setting making them more personalized and dynamic and assisting doctors in taking their everyday clinical decisions.
    MeSH term(s) Decision Support Systems, Clinical/organization & administration ; Humans ; Artificial Intelligence ; Algorithms
    Language English
    Publishing date 2024-03-12
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 645179-2
    ISSN 1873-2860 ; 0933-3657
    ISSN (online) 1873-2860
    ISSN 0933-3657
    DOI 10.1016/j.artmed.2024.102841
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Supporting student success on the practical nurse (PN) licensure exam: The Health Education Systems Incorporated (HESI) PN Exit Exam Study.

    Riley, Tracy A / Gouveia, Christine / Baker, Ryan S / Ruiz, Kristin / San Pedro, Maria Ofelia Z

    Nurse education today

    2022  Volume 121, Page(s) 105669

    Abstract: ... they contribute significantly to healthcare throughout the U.S.A. Current research to support their learning and ...

    Abstract Background: Practical Nurses or Vocational Nurses (PNs/VNs) complete a 12-month certificate program and must successfully complete the National Council Licensure Exam for Practical Nurses (NCLEX-PN) prior to practice. While the scope of their practice is more circumscribed than the Registered Nurse (RN), they contribute significantly to healthcare throughout the U.S.A. Current research to support their learning and success is needed. Elsevier's Health Education Systems Incorporated (HESI) PN Exit Exam (E2) has been used to determine students' NCLEX-PN readiness for over 20 years. Given regular updates to the NCLEX test plan, ongoing research is needed to assess the E2's continued predictive validity and examine E2 program policies to enhance PN/VN student success.
    Objectives: To examine the predictive validity of the E2 on NCLEX-PN first-time pass rates (NCLEX-PN FTPR) and determine which E2-related program policies are related to higher E2 scores and NCLEX-PN FTPR.
    Method: Sixteen PN/VN program directors participated in the study, providing E2 program policy information and NCLEX-FTPR outcomes for 1371 students who took the E2 between 2018 and 2021.
    Results: Students passed the NCLEX-PN 96-98 % of the time when they scored 900 or higher on the E2 and passed 94 %-96 % of the time when they scored 850 or higher. Out of 16 programs, most required E2 test preparation (n = 13, 81.25 %) and allowed students more than one E2 attempt (n = 11; 68.75 %). Requiring minimum E2 scores and specific E2 test preparation were associated with higher NCLEX-PN pass rates, in each case mediated by higher E2 scores. Requiring remediation for students with low initial E2 scores led to higher E2 scores but not higher NCLEX-PN pass rates.
    Conclusions: This study provides evidence for program policies and educational resources to support students' NCLEX-PN success. Setting an expected performance benchmark and requiring PN students to engage in E2 preparation prior to their first attempt are recommended strategies emerging from this study.
    MeSH term(s) Humans ; Educational Measurement ; Licensure ; Educational Status ; Education, Nursing, Baccalaureate ; Students, Nursing ; Health Education ; Licensure, Nursing
    Language English
    Publishing date 2022-11-28
    Publishing country Scotland
    Document type Journal Article
    ZDB-ID 1062570-7
    ISSN 1532-2793 ; 0260-6917
    ISSN (online) 1532-2793
    ISSN 0260-6917
    DOI 10.1016/j.nedt.2022.105669
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Bronchogenic cysts of the neck: a rare localization and review of the literature.

    Moz, U / Gamba, P / Pignatelli, U / D'Addazio, G / Zorzi, F / Fiaccavento, S / Milesi, F

    Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale

    2009  Volume 29, Issue 1, Page(s) 36–40

    Abstract: Personal experience in the diagnosis and management of two patients, one adult and one child, with pathologically proven bronchogenic cysts is described. Both patients presented with a solitary neck mass that proved to be bronchogenic cysts on ... ...

    Abstract Personal experience in the diagnosis and management of two patients, one adult and one child, with pathologically proven bronchogenic cysts is described. Both patients presented with a solitary neck mass that proved to be bronchogenic cysts on histological examination. Aim of the review is to define the cytology, histopathological and clinical characteristics of bronchogenic cysts and discuss the features that distinguish them from other cervical cysts. Definitive treatment requires surgical excision.
    MeSH term(s) Adolescent ; Adult ; Bronchogenic Cyst/diagnosis ; Bronchogenic Cyst/surgery ; Female ; Humans ; Male ; Neck
    Language English
    Publishing date 2009-07-17
    Publishing country Italy
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 604898-5
    ISSN 1827-675X ; 0392-100X
    ISSN (online) 1827-675X
    ISSN 0392-100X
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Genetic and non-genetic risk factors for early-onset pancreatic cancer.

    Nodari, Ylenia / Gentiluomo, Manuel / Mohelnikova-Duchonova, Beatrice / Kreivenaite, Edita / Milanetto, Anna Caterina / Skieceviciene, Jurgita / Landi, Stefano / Lawlor, Rita T / Petrone, Maria Chiara / Arcidiacono, Paolo Giorgio / Lovecek, Martin / Gazouli, Maria / Bijlsma, Maarten F / Morelli, Luca / Kiudelis, Vytautas / Tacelli, Matteo / Zanette, Dalila Lucíola / Soucek, Pavel / Uzunoglu, Faik /
    Kaaks, Rudolf / Izbicki, Jakob / Boggi, Ugo / Pezzilli, Raffaele / Mambrini, Andrea / Pasquali, Claudio / van Laarhoven, Hanneke W / Katzke, Verena / Cavestro, Giulia Martina / Sperti, Cosimo / Loos, Martin / Latiano, Anna / Erőss, Bálint / Oliverius, Martin / Johnson, Theron / Basso, Daniela / Neoptolemos, John P / Aoki, Mateus Nóbrega / Greenhalf, William / Vodicka, Pavel / Archibugi, Livia / Vanella, Giuseppe / Lucchesi, Maurizio / Talar-Wojnarowska, Renata / Jamroziak, Krzysztof / Saeedi, Mohammed Al / van Eijck, Casper H J / Kupcinskas, Juozas / Hussein, Tamás / Puzzono, Marta / Bunduc, Stefania / Götz, Mara / Carrara, Silvia / Szentesi, Andrea / Tavano, Francesca / Moz, Stefania / Hegyi, Péter / Luchini, Claudio / Capurso, Gabriele / Perri, Francesco / Ermini, Stefano / Theodoropoulos, George / Capretti, Giovanni / Palmieri, Orazio / Ginocchi, Laura / Furbetta, Niccolò / Canzian, Federico / Campa, Daniele

    Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver

    2023  Volume 55, Issue 10, Page(s) 1417–1425

    Abstract: Background: Early-onset pancreatic cancer (EOPC) represents 5-10% of all pancreatic ductal adenocarcinoma (PDAC) cases, and the etiology of this form is poorly understood. It is not clear if established PDAC risk factors have the same relevance for ... ...

    Abstract Background: Early-onset pancreatic cancer (EOPC) represents 5-10% of all pancreatic ductal adenocarcinoma (PDAC) cases, and the etiology of this form is poorly understood. It is not clear if established PDAC risk factors have the same relevance for younger patients. This study aims to identify genetic and non-genetic risk factors specific to EOPC.
    Methods: A genome-wide association study was performed, analysing 912 EOPC cases and 10 222 controls, divided into discovery and replication phases. Furthermore, the associations between a polygenic risk score (PRS), smoking, alcohol consumption, type 2 diabetes and PDAC risk were also assessed.
    Results: Six novel SNPs were associated with EOPC risk in the discovery phase, but not in the replication phase. The PRS, smoking, and diabetes affected EOPC risk. The OR comparing current smokers to never-smokers was 2.92 (95% CI 1.69-5.04, P = 1.44 × 10
    Conclusion: In conclusion, we did not identify novel genetic variants associated specifically with EOPC, and we found that established PDAC risk variants do not have a strong age-dependent effect. Furthermore, we add to the evidence pointing to the role of smoking and diabetes in EOPC.
    MeSH term(s) Humans ; Diabetes Mellitus, Type 2/epidemiology ; Diabetes Mellitus, Type 2/genetics ; Diabetes Mellitus, Type 2/complications ; Genome-Wide Association Study ; Pancreatic Neoplasms/pathology ; Carcinoma, Pancreatic Ductal/genetics ; Carcinoma, Pancreatic Ductal/pathology ; Risk Factors ; Pancreatic Neoplasms
    Language English
    Publishing date 2023-03-25
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 1459373-7
    ISSN 1878-3562 ; 1125-8055
    ISSN (online) 1878-3562
    ISSN 1125-8055
    DOI 10.1016/j.dld.2023.02.023
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Epistassi recidivanti: l'embolizzazione come trattamento di elezione.

    Moz, U / Grandini, M / Rosa, G / Valvassori, L

    Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale

    1995  Volume 15, Issue 4, Page(s) 312–316

    Abstract: Epistaxis is a very common disease. Fortunately it occurs most commonly in the anterior septal network of blood vessel and is therefore readily controlled with simple local measures. Severe posterior epistaxis is less frequent but is still a common and ... ...

    Title translation Relapsing epistaxis: embolization as treatment of choice.
    Abstract Epistaxis is a very common disease. Fortunately it occurs most commonly in the anterior septal network of blood vessel and is therefore readily controlled with simple local measures. Severe posterior epistaxis is less frequent but is still a common and much more serious clinical problem and usually requires hospitalization. The classic treatment of these epistaxis is combined anterior-posterior nasal packing. Occasionally, however, this treatment does not control bleeding. The most popular alternative for these patient is arterial ligation. Initially only carotid ligation was performed. Later further advances in surgical technique and instrumentation, permitted internal maxillary and etmoid artery ligation to be carried out. However often arterial ligation cannot be easily performed in some ent departments and furthermore, surgical failure rate is not exceptionally high if one consider the numerous hypsilateral-contralateral arterial anastomoses present in the etmoid-nasal region. Fifteen patients with recurring nasal bleeding were treated with embolization between 1991 and 1993. Ten of them suffered of essential epistaxis while the other five had chronic local and/or systemic diseases (hereditary haemorrhagic teleangectasia and angiomas). Analysis of the results show a good control of bleeding in the first group of patients (90% after one embolization) and a satisfactory control in patients with haemorrhagic teleangectasia. In conclusion, owing to its efficacy, speed and safety therapeutic embolization with PVA particles may be considered treatment of choice in recurrent persistent epistaxis.
    MeSH term(s) Adult ; Aged ; Embolization, Therapeutic ; Epistaxis/surgery ; Epistaxis/therapy ; Female ; Follow-Up Studies ; Humans ; Male ; Recurrence ; Retrospective Studies
    Language Italian
    Publishing date 1995-08
    Publishing country Italy
    Document type Comparative Study ; English Abstract ; Journal Article
    ZDB-ID 604898-5
    ISSN 0392-100X
    ISSN 0392-100X
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Follicular dendritic cell tumour of the cervical lymph node: case report and brief review of literature.

    Moz, U / Pignatelli, U / Forner, P / Candiago, E / D'Addazio, G / Casirati, C / Gamba, P

    Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale

    2004  Volume 24, Issue 4, Page(s) 223–225

    Abstract: Follicular dendritic cell tumour/sarcoma is a rare tumour involving lymph-node or extra-lymph-node sites; review of the literature reveals very few cases of follicular dendritic cell tumour, probably since, in the past, the disease has often been ... ...

    Abstract Follicular dendritic cell tumour/sarcoma is a rare tumour involving lymph-node or extra-lymph-node sites; review of the literature reveals very few cases of follicular dendritic cell tumour, probably since, in the past, the disease has often been mistaken for other neoplasms: low differentiated carcinomas and fusate cell carcinomas, sarcomas, melanomas, thymic neoplasms, Castle carcinoma and other dendritic cell tumours (especially interdigital cell tumour/sarcoma). In the case described here, attention is focused on the diagnostic difficulties and on the therapeutic profile, comparing data with those reported in the international literature.
    MeSH term(s) Adenoma/pathology ; Biopsy, Needle ; Dendritic Cells, Follicular/pathology ; Female ; Humans ; Lymph Nodes/pathology ; Lymph Nodes/surgery ; Middle Aged ; Neck ; Thyroid Neoplasms/pathology
    Language English
    Publishing date 2004-08
    Publishing country Italy
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 604898-5
    ISSN 0392-100X
    ISSN 0392-100X
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Il carcinoma mucoepidermoide delle ghiandole salivari: il grading istologico come fattore prognostico.

    Moz, U / Gelosa, G / Colombo, E / Brusamolino, R

    Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale

    1993  Volume 13, Issue 6, Page(s) 559–564

    Abstract: Mucoepidermoid carcinomas (MEC) make up 32% of the heterogeneous cases of malignant epithelial neoplasm of salivary glands observed in our Department. From 1980 to 1990, 270 patients with salivary gland tumefaction, which had previously been treated ... ...

    Title translation Mucoepidermoid carcinoma of salivary glands: histologic grading as prognostic factors.
    Abstract Mucoepidermoid carcinomas (MEC) make up 32% of the heterogeneous cases of malignant epithelial neoplasm of salivary glands observed in our Department. From 1980 to 1990, 270 patients with salivary gland tumefaction, which had previously been treated surgically, were studies. Thirty-four proved to be cases of malignant epithelial neoplasms while 12 oh these 34 were MEC. The biological behaviour of MEC appears to be closely linked to histological grading: a tumor with a low grading has good prognosis while in the case of tumors with a high grading there is a rapid development of local as well as distant metastases. At appears that, with regard to malignancy, localization is an important factors as well submandibular neoplasms are more aggressive the other cancers, probably because they attack periglandular tissue so promptly.
    MeSH term(s) Adult ; Age Factors ; Aged ; Carcinoma, Mucoepidermoid/diagnosis ; Carcinoma, Mucoepidermoid/epidemiology ; Female ; Humans ; Italy/epidemiology ; Male ; Mandible/pathology ; Middle Aged ; Neoplasm Staging ; Parotid Gland/pathology ; Prognosis ; Salivary Gland Neoplasms/diagnosis ; Salivary Gland Neoplasms/epidemiology ; Salivary Gland Neoplasms/pathology ; Salivary Glands/pathology
    Language Italian
    Publishing date 1993-11
    Publishing country Italy
    Document type Case Reports ; English Abstract ; Journal Article
    ZDB-ID 604898-5
    ISSN 0392-100X
    ISSN 0392-100X
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: The PANcreatic Disease ReseArch (PANDoRA) consortium: Ten years' experience of association studies to understand the genetic architecture of pancreatic cancer.

    Campa, Daniele / Gentiluomo, Manuel / Stein, Angelika / Aoki, Mateus Nóbrega / Oliverius, Martin / Vodičková, Ludmila / Jamroziak, Krzysztof / Theodoropoulos, George / Pasquali, Claudio / Greenhalf, William / Arcidiacono, Paolo Giorgio / Uzunoglu, Faik / Pezzilli, Raffaele / Luchini, Claudio / Puzzono, Marta / Loos, Martin / Giaccherini, Matteo / Katzke, Verena / Mambrini, Andrea /
    Kiudeliene, Edita / Federico, Kauffmann Emanuele / Johansen, Julia / Hussein, Tamás / Mohelnikova-Duchonova, Beatrice / van Eijck, Casper H J / Brenner, Hermann / Farinella, Riccardo / Pérez, Juan Sainz / Lovecek, Martin / Büchler, Markus W / Hlavac, Viktor / Izbicki, Jakob R / Hackert, Thilo / Chammas, Roger / Zerbi, Alessandro / Lawlor, Rita / Felici, Alessio / Götz, Mara / Capurso, Gabriele / Ginocchi, Laura / Gazouli, Maria / Kupcinskas, Juozas / Cavestro, Giulia Martina / Vodicka, Pavel / Moz, Stefania / Neoptolemos, John P / Kunovsky, Lumir / Bojesen, Stig E / Carrara, Silvia / Gioffreda, Domenica / Morkunas, Egidijus / Abian, Olga / Bunduc, Stefania / Basso, Daniela / Boggi, Ugo / Wlodarczyk, Barbara / Szentesi, Andrea / Vanella, Giuseppe / Chen, Inna / Bijlsma, Maarten F / Kiudelis, Vytautas / Landi, Stefano / Schöttker, Ben / Corradi, Chiara / Giese, Nathalia / Kaaks, Rudolf / Peduzzi, Giulia / Hegyi, Péter / Morelli, Luca / Furbetta, Niccolò / Soucek, Pavel / Latiano, Anna / Talar-Wojnarowska, Renata / Lindgaard, Sidsel C / Dijk, Frederike / Milanetto, Anna Caterina / Tavano, Francesca / Cervena, Klara / Erőss, Bálint / Testoni, Sabrina G / Verhagen-Oldenampsen, Judith H E / Małecka-Wojciesko, Ewa / Costello, Eithne / Salvia, Roberto / Maiello, Evaristo / Ermini, Stefano / Sperti, Cosimo / Holleczek, Bernd / Perri, Francesco / Skieceviciene, Jurgita / Archibugi, Livia / Lucchesi, Maurizio / Rizzato, Cosmeri / Canzian, Federico

    Critical reviews in oncology/hematology

    2023  Volume 186, Page(s) 104020

    Abstract: Pancreatic cancer has an incidence that almost matches its mortality. Only a small number of risk factors and 33 susceptibility loci have been identified. so Moreover, the relative rarity of pancreatic cancer poses significant hurdles for research aimed ... ...

    Abstract Pancreatic cancer has an incidence that almost matches its mortality. Only a small number of risk factors and 33 susceptibility loci have been identified. so Moreover, the relative rarity of pancreatic cancer poses significant hurdles for research aimed at increasing our knowledge of the genetic mechanisms contributing to the disease. Additionally, the inability to adequately power research questions prevents small monocentric studies from being successful. Several consortia have been established to pursue a better understanding of the genetic architecture of pancreatic cancers. The Pancreatic disease research (PANDoRA) consortium is the largest in Europe. PANDoRA is spread across 12 European countries, Brazil and Japan, bringing together 29 basic and clinical research groups. In the last ten years, PANDoRA has contributed to the discovery of 25 susceptibility loci, a feat that will be instrumental in stratifying the population by risk and optimizing preventive strategies.
    MeSH term(s) Humans ; Carcinoma, Pancreatic Ductal ; Pancreatic Neoplasms/etiology ; Pancreatic Neoplasms/genetics ; Risk Factors ; Polymorphism, Single Nucleotide
    Language English
    Publishing date 2023-05-08
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 605680-5
    ISSN 1879-0461 ; 0737-9587 ; 1040-8428
    ISSN (online) 1879-0461
    ISSN 0737-9587 ; 1040-8428
    DOI 10.1016/j.critrevonc.2023.104020
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Muscle fibre type and obstructive sleep apnea.

    Ferini-Strambi, L J / Smirne, S / Moz, U / Sferrazza, B / Iannaccone, S

    Sleep research online : SRO

    1998  Volume 1, Issue 1, Page(s) 24–27

    Abstract: Muscular pharyngeal structural changes, as fibre type disproportion, have been described in patients affected by Obstructive Sleep Apnea (OSA) and in an animal experimental OSA model. The unsolved question is whether these muscular abnormalities are ... ...

    Abstract Muscular pharyngeal structural changes, as fibre type disproportion, have been described in patients affected by Obstructive Sleep Apnea (OSA) and in an animal experimental OSA model. The unsolved question is whether these muscular abnormalities are either secondary to a compensatory increased activity or due to a constitutionally determined reduction of slow-alpha motor neurons. In the present study Medium Pharyngeal Constrictor Muscles (MPCM) of OSA (n = 13) and non-OSA (n = 9) patients have been morphologically evaluated. In addition a needle biopsy of Vastus Lateralis Muscle (VLM) was performed in 5 randomly selected patients of each group. Our results confirmed a specific fibre type disproportion of MPCM of OSA patients compared to non-OSA ones with a type II predominance and aspecific myopathic changes such as fibrosis and central nuclei. No difference was found in the VLM of the two groups. This finding could be explained by a secondary adaptive transformation consequent to nocturnal upper airway resistance in OSA. In fact, it has been demonstrated in human muscle that heavy-resistance training may produce preferential type II fibre hypertrophy in stimulated muscle.
    MeSH term(s) Adaptation, Physiological ; Adult ; Aged ; Airway Resistance ; Biopsy, Needle ; Humans ; Hypertrophy ; Male ; Middle Aged ; Muscle Fibers, Skeletal/pathology ; Pharyngeal Muscles/pathology ; Pharyngeal Muscles/physiopathology ; Sleep Apnea, Obstructive/pathology ; Sleep Apnea, Obstructive/physiopathology ; Snoring
    Language English
    Publishing date 1998
    Publishing country United States
    Document type Clinical Trial ; Journal Article ; Randomized Controlled Trial
    ISSN 1096-214X
    ISSN (online) 1096-214X
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Genome-wide association study identifies an early onset pancreatic cancer risk locus.

    Campa, Daniele / Gentiluomo, Manuel / Obazee, Ofure / Ballerini, Alba / Vodickova, Ludmila / Hegyi, Péter / Soucek, Pavel / Brenner, Hermann / Milanetto, Anna Caterina / Landi, Stefano / Gao, Xin / Bozzato, Dania / Capurso, Gabriele / Tavano, Francesca / Vashist, Yogesh / Hackert, Thilo / Bambi, Franco / Bursi, Simona / Oliverius, Martin /
    Gioffreda, Domenica / Schöttker, Ben / Ivanauskas, Audrius / Mohelnikova-Duchonova, Beatrice / Darvasi, Erika / Pezzilli, Raffaele / Małecka-Panas, Ewa / Strobel, Oliver / Gazouli, Maria / Katzke, Verena / Szentesi, Andrea / Cavestro, Giulia Martina / Farkas, Gyula / Izbicki, Jakob R / Moz, Stefania / Archibugi, Livia / Hlavac, Viktor / Vincze, Áron / Talar-Wojnarowska, Renata / Rusev, Borislav / Kupcinskas, Juozas / Greenhalf, Bill / Dijk, Frederike / Giese, Nathalia / Boggi, Ugo / Andriulli, Angelo / Busch, Olivier R / Vanella, Giuseppe / Vodicka, Pavel / Nentwich, Michael / Lawlor, Rita T / Theodoropoulos, George E / Jamroziak, Krzysztof / Zuppardo, Raffaella Alessia / Moletta, Lucia / Ginocchi, Laura / Kaaks, Rudolf / Neoptolemos, John P / Lucchesi, Maurizio / Canzian, Federico

    International journal of cancer

    2020  Volume 147, Issue 8, Page(s) 2065–2074

    Abstract: Early onset pancreatic cancer (EOPC) is a rare disease with a very high mortality rate. Almost nothing is known on the genetic susceptibility of EOPC, therefore, we performed a genome-wide association study (GWAS) to identify novel genetic variants ... ...

    Abstract Early onset pancreatic cancer (EOPC) is a rare disease with a very high mortality rate. Almost nothing is known on the genetic susceptibility of EOPC, therefore, we performed a genome-wide association study (GWAS) to identify novel genetic variants specific for patients diagnosed with pancreatic ductal adenocarcinoma (PDAC) at younger ages. In the first phase, conducted on 821 cases with age of onset ≤60 years, of whom 198 with age of onset ≤50, and 3227 controls from PanScan I-II, we observed four SNPs (rs7155613, rs2328991, rs4891017 and rs12610094) showing an association with EOPC risk (P < 1 × 10
    MeSH term(s) Carcinoma, Pancreatic Ductal/genetics ; Carcinoma, Pancreatic Ductal/pathology ; Case-Control Studies ; Female ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study/methods ; Humans ; Male ; Middle Aged ; Pancreas/pathology ; Pancreatic Neoplasms/genetics ; Pancreatic Neoplasms/pathology ; Polymorphism, Single Nucleotide/genetics ; Risk Factors ; Pancreatic Neoplasms
    Language English
    Publishing date 2020-05-01
    Publishing country United States
    Document type Journal Article ; Meta-Analysis ; Research Support, Non-U.S. Gov't
    ZDB-ID 218257-9
    ISSN 1097-0215 ; 0020-7136
    ISSN (online) 1097-0215
    ISSN 0020-7136
    DOI 10.1002/ijc.33004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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