Review
Oncology
Charlotte L. Vietor, Sara G. Creemers, Folkert J. van Kemenade, Tessa M. van Ginhoven, Leo J. Hofland, Richard A. Feelders
Summary: This review summarizes current diagnostic strategies and challenges in distinguishing benign from malignant adrenal lesions. It focuses on radiological and biochemical assessments for preoperative diagnosis, and histopathological and molecular assessments postoperatively. New non-invasive strategies such as liquid biopsies are also discussed for their potential in diagnosing Adrenocortical carcinoma.
Article
Oncology
Anne Zaremba, Philipp Jansen, Rajmohan Murali, Anand Mayakonda, Anna Riedel, Manuel Philip, Christian Rose, Joerg Schaller, Hansgeorg Mueller, Heinz Kutzner, Inga Moller, Nadine Stadtler, Julia Kretz, Antje Sucker, Agnes Bankfalvi, Elisabeth Livingstone, Lisa Zimmer, Susanne Horn, Annette Paschen, Christoph Plass, Dirk Schadendorf, Eva Hadaschik, Pavlo Lutsik, Klaus Griewank
Summary: Accurate classification of melanocytic tumors is crucial for patients' treatment and prognostic evaluation. Research shows that there are distinct genetic and epigenetic characteristics between Spitz nevi, nevi, and melanomas. Combined genetic and methylation assays can provide additional insights in diagnosing difficult to classify Spitzoid tumors.
INTERNATIONAL JOURNAL OF CANCER
(2022)
Article
Dentistry, Oral Surgery & Medicine
Jose Maria Chagas Viana Filho, Beatriz Fernandes de Souza, Marina de Castro Coelho, Ana Maria Gondim Valenca, Darlene Camati Persuhn, Naila Francis Paulo de Oliveira
Summary: The study aimed to investigate the relationship between VDR gene polymorphisms and DNA methylation status with oral mucositis in oncopaediatric patients treated with methotrexate. Results showed a high prevalence of OM in the studied population, with lower leukocyte and platelet counts associated with the condition. Severe oral mucositis was found to be linked to specific genetic polymorphisms in the VDR gene.
Review
Food Science & Technology
Chao Lu, Weihua Zhou, Xinjue He, Xinxin Zhou, Chaohui Yu
Summary: The study found that patients with celiac disease have lower Vitamin D levels compared to controls, which improve after treatment, but there is no difference in Vitamin D Receptor genotypes between the two groups.
CRITICAL REVIEWS IN FOOD SCIENCE AND NUTRITION
(2021)
Review
Biochemistry & Molecular Biology
Georgia Pitsava, Constantine A. Stratakis
Summary: The genetic basis of most types of adrenal adenomas has been studied, revealing associations with specific molecular defects. Genetic variants affecting the protein kinase A (PKA) signaling pathway have been linked to adrenal gland pathologies. Additionally, genes related to aldosterone production have been identified as causes of primary aldosteronism.
Review
Neurosciences
Michela Barichella, Federica Garri, Serena Caronni, Carlotta Bolliri, Luciano Zocchi, Maria Carmela Macchione, Valentina Ferri, Daniela Calandrella, Gianni Pezzoli
Summary: Parkinson's disease is a neurodegenerative disorder characterized by motor symptoms and various non-motor symptoms. Recent research has suggested a potential correlation between vitamin D and Parkinson's disease, although the mechanisms and efficacy are still unclear.
Article
Nutrition & Dietetics
Tafirenyika Gwenzi, Petra Schrotz-King, Ben Schoettker, Michael Hoffmeister, Hermann Brenner
Summary: According to recent evidence, the prognostic value of Vitamin D (VitD) status for colorectal cancer (CRC) patients might be confined to patients with the GG genotype of Cdx2, a functional polymorphism of the VitD receptor gene. In this study, the researchers aimed to validate these findings in a cohort of CRC patients by measuring serum VitD concentration and performing Cdx2 genotyping. The results showed that VitD deficiency is associated with poorer survival, particularly in patients with the GG genotype of Cdx2.
Article
Surgery
Jin Woo Park, Sung Taeck Kim, Kyu Sang Lee, Hyun Sik Gong
Summary: Patients with DD were found to have low vitamin D levels, indicating a potential link between vitamin D status and DD. Further research is needed to explore the role of vitamin D in the pathogenesis of DD.
JOURNAL OF PLASTIC RECONSTRUCTIVE AND AESTHETIC SURGERY
(2022)
Article
Andrology
Tarek M. Hussein, Nermeen Eldabah, Hadil A. Zayed, Rasha M. Genedy
Summary: The study found that serum levels of 25OHD were significantly lower in male infertility patients compared to healthy fertile men, and there was a positive correlation between 25OHD levels and sperm concentration in patients. Additionally, methylation of the vitamin D receptor gene was significantly higher in patients and negatively correlated with sperm concentration and progressive motility in the overall studied group. These results suggest that vitamin D deficiency and DNA methylation of the vitamin D receptor gene may play a role in the etiology of idiopathic male infertility.
Article
Medicine, Research & Experimental
Monica Ivette Pina-Aguero, Jorge Maldonado-Hernandez, Leticia Sebastian-Medina, Maria Elizabeth Tejero-Barrera, Ricardo Martin Robledo-Perez, Salvador Villalpando-Hernandez, Zobeida Analilia Ventura-Bravo, LauraKatia Morales-Ramirez
Summary: This study evaluated the relationship between FokI and BsmI polymorphisms of the VDR gene and BCF and vitamin D status in non-obese Mexican adults. The study found that the TT genotype of FokI and the GG genotype of BsmI were associated with a decrease in BCF.
ARCHIVES OF MEDICAL RESEARCH
(2022)
Article
Oncology
Orsolya Juhasz, Noemi Jakob, Hajnalka Rajnai, Marcell Imrei, Miklos Garami
Summary: The study found that lower vitamin D receptor (VDR) expression is associated with worse prognosis in different types of childhood cancer. Identifying the VDR status provides clinicians with a valuable biomarker to guide additional therapy.
Article
Surgery
Daniel Garay-Lechuga, Rafael Humberto Perez-Soto, Juan David Hernandez-Acevedo, David Butron-Hernandez, Mauricio Sierra-Salazar, Juan Pablo Pantoja-Millan, Miguel F. Herrera, David Velaquez-Fernandez
Summary: This study found that necrosis is the most important imaging feature for diagnosing adrenocortical carcinoma, with high diagnostic accuracy.Computed tomography scan-detected necrosis is a reliable radiological feature to discern adrenocortical carcinoma from adrenocortical adenomas.
Article
Endocrinology & Metabolism
Hongyuan Zhu, Luming Wu, Tingwei Su, Lei Jiang, Weiwei Zhou, Yiran Jiang, Cui Zhang, Xu Zhong, Weiqing Wang
Summary: This study investigated the association between radiological characteristics of benign adrenocortical tumors and the hypothalamus-pituitary-adrenal (HPA) axis in 494 patients. It was found that patients with mild autonomous cortisol secretion (MACS) had larger tumor diameter, thinner contralateral adrenal gland, and lower plasma ACTH and serum DHEAS levels compared to those with non-functional adrenocortical tumors (NFAT). ACTH was shown to mediate the effects of MACS on DHEAS and contralateral adrenal gland.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Endocrinology & Metabolism
Antonella Al Refaie, Leonardo Baldassini, Michela De Vita, Stefano Gonnelli, Carla Caffarelli
Summary: Vitamin D plays an important role not only in phospho-calcium metabolism and skeletal disorders, but also in carcinogenesis, inflammation, autoimmunity, and endocrinopathies. There is evidence suggesting possible correlations between vitamin D and adrenal diseases, with common genetic pathways.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Immunology
Kathirvel Maruthai, Saranya Sankar, Mahadevan Subramanian
Summary: Deficiency in circulatory vitamin D level and vitamin D receptor DNA methylation could be associated with weakened innate immune response and increased susceptibility to tuberculosis (TB) disease in children. The study found that children with active-TB had lower plasma vitamin D levels, decreased VDR gene expression, and increased VDR DNA methylation. VDR hypermethylation was significantly associated with reduced vitamin D levels and decreased expression of the VDR gene.
IMMUNOLOGICAL INVESTIGATIONS
(2022)
Review
Otorhinolaryngology
Gino Marioni, Alessandro Martini, Niccolo Favaretto, Sebastiano Franchella, Rocco Cappellesso, Filippo Marino, Stella Blandamura, Antonio Mazzoni, Elisabetta Zanoletti
EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY
(2016)
Article
Pathology
Gino Marioni, Marco Agostini, Rocco Cappellesso, Chiara Bedin, Giancarlo Ottaviano, Rosario Marchese-Ragona, Andrea Lovato, Tommaso Cacco, Luciano Giacomelli, Donato Nitti, Stella Blandamura, Edoardo Stellini, Cosimo de Filippis
JOURNAL OF CLINICAL PATHOLOGY
(2016)
Article
Oncology
Rocco Cappellesso, Lorenzo Nicole, Brasilina Caroccia, Vincenza Guzzardo, Laura Ventura, Matteo Fassan, Ambrogio Fassina
CANCER CYTOPATHOLOGY
(2016)
Article
Cell Biology
Arianna De Luca, Paola Avena, Rosa Sirianni, Adele Chimento, Francesco Fallo, Catia Pilon, Ivan Casaburi, Vincenzo Pezzi
Article
Cardiac & Cardiovascular Systems
Sara Tellatin, Pietro Maffei, Elena Osto, Francesca Dassie, Giulia Famoso, Roberta Montisci, Chiara Martini, Francesco Fallo, Martina Perazzolo Marra, Roberto Mioni, Sabino Iliceto, Roberto Vettor, Francesco Tona
Article
Endocrinology & Metabolism
B. Rubin, C. Pilon, R. Pezzani, A. Rebellato, F. Fallo
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2020)
Article
Biochemistry & Molecular Biology
Lisa Elefanti, Carolina Zamuner, Paolo Del Fiore, Camilla Stagni, Stefania Pellegrini, Luigi Dall'Olmo, Alessio Fabozzi, Rebecca Senetta, Simone Ribero, Roberto Salmaso, Simone Mocellin, Franco Bassetto, Francesco Cavallin, Anna Lisa Tosi, Francesca Galuppini, Angelo Paolo Dei Tos, Chiara Menin, Rocco Cappellesso
Summary: Acral melanoma is a rare and aggressive subtype of melanoma, unrelated to UV radiation, with low mutation burden but frequent chromosomal rearrangements and gene amplifications. The most commonly mutated genes are BRAF, NRAS, and TP53, with some genetic alterations associated with histologic prognostic features.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Rocco Cappellesso, Filippo Nozzoli, Federica Zito Marino, Sara Simi, Francesca Castiglione, Vincenzo De Giorgi, Carlo Cota, Rebecca Senetta, Giosue Scognamiglio, Anna Maria Anniciello, Anna Maria Cesinaro, Mario Mandala, Andrea Gianatti, Maria Gabriella Valente, Barbara Valeri, Angela Rita Sementa, Costantino Ricci, Barbara Corti, Giandomenico Roviello, Angelo Paolo Dei Tos, Renato Franco, Daniela Massi
Summary: Detection of NTRK fusions in atypical Spitz tumors is crucial, and confirmation using multiple molecular techniques can improve diagnostic accuracy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Carlo Alberto Dal Pozzo, Rocco Cappellesso
Summary: Spitz neoplasms are a heterogeneous group of melanocytic proliferations with variable histological characteristics. Recent discoveries have provided insight into the molecular landscape of Spitz lineage, identifying specific molecular events that correlate with distinct histological features. Detection of driver genetic alterations can help identify aggressive subtypes requiring further molecular investigations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biology
Paolo Del Fiore, Irene Russo, Alessandro Dal Monico, Jacopo Tartaglia, Beatrice Ferrazzi, Marcodomenico Mazza, Francesco Cavallin, Saveria Tropea, Alessandra Buja, Rocco Cappellesso, Lorenzo Nicole, Vanna Chiarion-Sileni, Chiara Menin, Antonella Vecchiato, Angelo Paolo Dei Tos, Mauro Alaibac, Simone Mocellin
Summary: The incidence of cutaneous melanoma is increasing among fair-skinned population, with UV radiation being a consistent modifiable risk factor. A study in Italy's Veneto region explored the relationship between melanoma and altitude, finding differences in melanoma types and severity based on geographical regions, but no association with survival rates was observed.
Article
Biochemistry & Molecular Biology
Rocco Cappellesso, Lorenzo Nicole, Paolo Del Fiore, Luisa Barzon, Alessandro Sinigaglia, Silvia Riccetti, Renato Franco, Federica Zito Marino, Giada Munari, Carolina Zamuner, Francesco Cavallin, Marta Sbaraglia, Francesca Galuppini, Franco Bassetto, Mauro Alaibac, Vanna Chiarion-Sileni, Luisa Piccin, Clara Benna, Matteo Fassan, Simone Mocellin, Angelo Paolo Dei Tos
Summary: Merkel cell carcinoma is a rare and aggressive cutaneous malignant tumor with neuroendocrine differentiation. Research found no NTRK fusions in tumors involving neurotrophin receptor tyrosine kinase genes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Giovanni Zarrilli, Gianluca Businello, Maria Vittoria Dieci, Silvia Paccagnella, Valentina Carraro, Rocco Cappellesso, Federica Miglietta, Gaia Griguolo, Valentina Guarneri, Marcello Lo Mele, Matteo Fassan
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2020)
Article
Endocrinology & Metabolism
Francesco Fallo, Isabella Castellano, Celso E. Gomez-Sanchez, Yara Rhayem, Catia Pilon, Valentina Vicennati, Donatella Santini, Valeria Maffeis, Ambrogio Fassina, Paolo Mulatero, Felix Beuschlein, Martin Reincke
Article
Endocrinology & Metabolism
Eleonora Avenatti, Andrea Rebellato, Andrea Iannaccone, Marialberta Battocchio, Francesca Dassie, Franco Veglio, Alberto Milan, Francesco Fallo
Article
Endocrinology & Metabolism
Roberto Mioni, Anna Dalla Ca, Jenni Turra, Sara Azzolini, Nadia Xamin, Luigi Bleve, Pietro Maffei, Roberto Vettor, Francesco Fallo