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https://www.readbyqxmd.com/read/27094308/a-multicenter-experience-on-the-prevalence-of-armc5-mutations-in-patients-with-primary-bilateral-macronodular-adrenal-hyperplasia-from-genetic-characterization-to-clinical-phenotype
#1
N M Albiger, D Regazzo, B Rubin, A M Ferrara, S Rizzati, E Taschin, F Ceccato, G Arnaldi, F Pecori Giraldi, A Stigliano, L Cerquetti, F Grimaldi, E De Menis, M Boscaro, M Iacobone, G Occhi, C Scaroni
ARMC5 mutations have recently been identified as a common genetic cause of primary bilateral macronodular adrenal hyperplasia (PBMAH). We aimed to assess the prevalence of ARMC5 germline mutations and correlate genotype with phenotype in a large cohort of PBMAH patients. A multicenter study was performed, collecting patients from different endocrinology units in Italy. Seventy-one PBMAH patients were screened for small mutations and large rearrangements in the ARMC5 gene: 53 were cortisol-secreting (two with a family history of adrenal hyperplasia) and 18 were non-secreting cases of PBMAH...
April 19, 2016: Endocrine
https://www.readbyqxmd.com/read/26963951/acromegaly-is-more-severe-in-patients-with-ahr-or-aip-gene-variants-living-in-highly-polluted-areas
#2
S Cannavo, M Ragonese, S Puglisi, P D Romeo, M L Torre, A Alibrandi, C Scaroni, G Occhi, F Ceccato, D Regazzo, E De Menis, P Sartorato, G Arnaldi, L Trementino, F Trimarchi, F Ferrau
In this multicentric study, we aimed to correlate the occurrence of AHR and/or AIP. genes variants in acromegalic patients with the disease severity and/or with the response to somatostatin analogs (SSa) treatment, according to pollution exposition.
April 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/26846670/transcriptome-enabled-discovery-and-functional-characterization-of-enzymes-related-to-2s-pinocembrin-biosynthesis-from-ornithogalum-caudatum-and-their-application-for-metabolic-engineering
#3
Lei Guo, Xi Chen, Li-Na Li, Wei Tang, Yi-Ting Pan, Jian-Qiang Kong
BACKGROUND: (2S)-Pinocembrin is a chiral flavanone with versatile pharmacological and biological activities. Its health-promoting effects have spurred on research effects on the microbial production of (2S)-pinocembrin. However, an often-overlooked salient feature in the analysis of microbial (2S)-pinocembrin is its chirality. RESULTS: Here, we presented a full characterization of absolute configuration of microbial (2S)-pinocembrin from engineered Escherichia coli...
2016: Microbial Cell Factories
https://www.readbyqxmd.com/read/26815903/analysis-of-gpr101-and-aip-genes-mutations-in-acromegaly-a-multicentric-study
#4
Francesco Ferraù, P D Romeo, S Puglisi, M Ragonese, M L Torre, C Scaroni, G Occhi, E De Menis, G Arnaldi, F Trimarchi, S Cannavò
This multicentric study aimed to investigate the prevalence of the G protein-coupled receptor 101 (GPR101) p.E308D variant and aryl hydrocarbon receptor interacting protein (AIP) gene mutations in a representative cohort of Italian patients with acromegaly. 215 patients with GH-secreting pituitary adenomas, referred to 4 Italian referral centres for pituitary diseases, have been included. Three cases of gigantism were present. Five cases were classified as FIPA. All the patients have been screened for germline AIP gene mutations and GPR101 gene p...
January 27, 2016: Endocrine
https://www.readbyqxmd.com/read/26310507/homozygous-desmocollin-2-mutations-and-arrhythmogenic-cardiomyopathy
#5
Alessandra Lorenzon, Kalliopi Pilichou, Ilaria Rigato, Giovanni Vazza, Marzia De Bortoli, Martina Calore, Gianluca Occhi, Elisa Carturan, Elisabetta Lazzarini, Marco Cason, Elisa Mazzotti, Giulia Poloni, Maria Luisa Mostacciuolo, Luciano Daliento, Gaetano Thiene, Domenico Corrado, Cristina Basso, Barbara Bauce, Alessandra Rampazzo
Dominant mutations in desmocollin-2 (DSC2) gene cause arrhythmogenic cardiomyopathy (ACM), a progressive heart muscle disease characterized by ventricular tachyarrhythmias, heart failure, and risk of juvenile sudden death. Recessive mutations are rare and are associated with a cardiac or cardiocutaneous phenotype. Here, we evaluated the impact of a homozygous founder DSC2 mutation on clinical expression of ACM. An exon-by-exon analysis of the DSC2 coding region was performed in 94 ACM index patients. The c...
October 15, 2015: American Journal of Cardiology
https://www.readbyqxmd.com/read/25727927/an-analysis-of-different-therapeutic-options-in-patients-with-cushing-s-syndrome-due-to-bilateral-macronodular-adrenal-hyperplasia-a-single-centre-experience
#6
N M Albiger, F Ceccato, M Zilio, M Barbot, G Occhi, S Rizzati, A Fassina, F Mantero, M Boscaro, M Iacobone, C Scaroni
CONTEXT: Bilateral macronodular adrenal hyperplasia (BMAH) is a rare form of Cushing's syndrome (CS). A variety of in vivo tests to identify aberrant receptor expression have been proposed to guide medical treatment. Unilateral adrenalectomy (UA) may be effective in selected patients, but little is known about recurrence during follow-up. OBJECTIVE: To describe a series of patients with BMAH and CS treated by different approaches, with a particular focus on the benefit of UA...
June 2015: Clinical Endocrinology
https://www.readbyqxmd.com/read/25555563/temozolomide-and-pasireotide-treatment-for-aggressive-pituitary-adenoma-expertise-at-a-tertiary-care-center
#7
Filippo Ceccato, Giuseppe Lombardi, Renzo Manara, Enzo Emanuelli, Luca Denaro, Laura Milanese, Marina Paola Gardiman, Roberta Bertorelle, Massimo Scanarini, Domenico D'Avella, Gianluca Occhi, Marco Boscaro, Vittorina Zagonel, Carla Scaroni
Aggressive pituitary adenomas (PAs) are clinically challenging for endocrinologists and neurosurgeons due to their locally invasive nature and resistance to standard treatment (surgery, medical or radiotherapy). Two pituitary-directed drugs have recently been proposed: temozolomide (TMZ) for aggressive PA, and pasireotide for ACTH-secreting PA. We describe the experience of our multidisciplinary team of endocrinologists, neurosurgeons, neuroradiologists, oncologists, otolaryngologists and pathologists with TMZ and pasireotide treatment for aggressive PAs in terms of their radiological shrinkage and genetic features...
March 2015: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/25019383/ahr-over-expression-in-papillary-thyroid-carcinoma-clinical-and-molecular-assessments-in-a-series-of-italian-acromegalic-patients-with-a-long-term-follow-up
#8
Caterina Mian, Filippo Ceccato, Susi Barollo, Sara Watutantrige-Fernando, Nora Albiger, Daniela Regazzo, Paola de Lazzari, Gianmaria Pennelli, Sandra Rotondi, Davide Nacamulli, Maria Rosa Pelizzo, Marie-Lise Jaffrain-Rea, Franco Grimaldi, Gianluca Occhi, Carla Scaroni
AIM: Acromegaly reportedly carries an increased risk of malignant and benign thyroid tumors, with a prevalence of thyroid cancer of around 3-7%. Germline mutations in the aryl-hydrocarbon receptor (AHR) interacting protein (AIP) have been identified in familial forms of acromegaly. The molecular and endocrine relationships between follicular thyroid growth and GH-secreting pituitary adenoma have yet to be fully established. Our aim was to study the prevalence of differentiated thyroid cancer (DTC) in acromegaly, focusing on the role of genetic events responsible for the onset of thyroid cancer...
2014: PloS One
https://www.readbyqxmd.com/read/24926820/activation-of-the-dopamine-receptor-type-2-drd2-promoter-by-9-cis-retinoic-acid-in-a-cellular-model-of-cushing-s-disease-mediates-the-inhibition-of-cell-proliferation-and-acth-secretion-without-a-complete-corticotroph-to-melanotroph-transdifferentiation
#9
Gianluca Occhi, Daniela Regazzo, Nora Maria Albiger, Filippo Ceccato, Sergio Ferasin, Massimo Scanarini, Luca Denaro, Chiara Cosma, Mario Plebani, Maria Francesca Cassarino, Giovanna Mantovani, Günter K Stalla, Francesca Pecori Giraldi, Marcelo Paez-Pareda, Carla Scaroni
Cushing's disease (CD) is a rare condition in which hypercortisolemia is secondary to excessive ACTH release from a pituitary corticotroph adenoma. CD is associated with significant morbidity and mortality, and a safe therapy that effectively targets the pituitary tumor is still lacking. Retinoic acid (RA) and dopamine agonists (DAs) have recently been considered as monotherapy in CD patients, and satisfactory results have been reported, albeit in a limited number of patients. Given the permissive role of RA on the dopamine receptor type-2 (DRD2), the aim of the present study was to see whether a combination of 9-cis RA and the DA bromocriptine (Br) might represent a possible treatment for CD...
September 2014: Endocrinology
https://www.readbyqxmd.com/read/24722134/gonadotropin-secreting-pituitary-adenoma-associated-with-erythrocytosis-case-report-and-literature-review
#10
REVIEW
Filippo Ceccato, Gianluca Occhi, Daniela Regazzo, Maria Luigia Randi, Diego Cecchin, Marina Paola Gardiman, Renzo Manara, Giuseppe Lombardi, Luca Denaro, Franco Mantero, Carla Scaroni
BACKGROUND: Most pituitary adenomas with FSH- or LH-positive immunohistochemistry are endocrinologically silent, and neurological symptoms due to their large volume are the first clinical signs; they are rarely reported to be secreting gonadotropins, this usually occurring in cases with clinical endocrine findings. Gonadotropinomas are often treated surgically because they are unresponsive to conventional medical therapies. Temozolomide was recently recommended for non-responder aggressive pituitary adenoma management...
January 2014: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/24541666/-time-factor-in-the-professional-work
#11
M OCCHI URANGA
No abstract text is available yet for this article.
October 1951: Revista Odontologica
https://www.readbyqxmd.com/read/24537318/-value-your-time-colleague
#12
M OCCHI URANGA
No abstract text is available yet for this article.
April 1950: Revista Odontologica
https://www.readbyqxmd.com/read/24489513/a-noninvasive-neuroprosthesis-augments-hand-grasp-force-in-individuals-with-cervical-spinal-cord-injury-the-functional-and-therapeutic-effects
#13
Rune Thorsen, Davide Dalla Costa, Sara Chiaramonte, Luca Binda, Ettore Beghi, Tiziana Redaelli, Eugenio Occhi, Maurizio Ferrarin
OBJECTIVES: The primary purpose of this study was to evaluate myoelectrically controlled functional electrical stimulation (MeCFES) for enhancing the tenodesis grip in people with tetraplegia. The second aim was to estimate the potential number of candidates for the MeCFES device. The application of MeCFES provides the user with direct control of the grasp force as opposed to triggered FES systems. METHODS: Screening 253 medical records of C5 to C7 spinal cord injury resulted in 27 participants who trained activities of daily living for 12 × 2 hours, using the MeCFES...
2013: TheScientificWorldJournal
https://www.readbyqxmd.com/read/23940012/somatostatin-analogues-increase-aip-expression-in-somatotropinomas-irrespective-of-gsp-mutations
#14
Marie-Lise Jaffrain-Rea, Sandra Rotondi, Annarita Turchi, Gianluca Occhi, Anne Barlier, Erika Peverelli, Lilya Rostomyan, Céline Defilles, Mariolina Angelini, Maria-Antonietta Oliva, Filippo Ceccato, Orlando Maiorani, Adrian F Daly, Vincenzo Esposito, Francesca Buttarelli, Dominique Figarella-Branger, Felice Giangaspero, Anna Spada, Carla Scaroni, Edoardo Alesse, Albert Beckers
Germline aryl hydrocarbon receptor interacting protein (AIP) gene mutations confer a predisposition to pituitary adenoma (PA), predominantly GH-secreting (GH-PA). As recent data suggest a role for AIP in the pathogenesis of sporadic GH-PA and their response to somatostatin analogues (SSA), the expression of AIP and its partner, aryl hydrocarbon receptor (AHR), was determined by semiquantitative immunohistochemistry scoring in 62 sporadic GH-PA (37 treated with SSA preoperatively). The influence of Gsp status was studied in a subset of tumours (n=39, 14 Gsp(+)) and six GH-PA were available for primary cultures...
October 2013: Endocrine-related Cancer
https://www.readbyqxmd.com/read/23820875/correlation-among-lesion-level-muscle-strength-and-hand-function-in-cervical-spinal-cord-injury
#15
MULTICENTER STUDY
R Thorsen, L Binda, S Chiaramonte, D Dalla Costa, T Redaelli, E Occhi, E Beghi, M Ferrarin
BACKGROUND: Few epidemiological data are available regarding distribution of cervical spinal cord injury with respect to level of lesion and the relationship between the neurological level of lesion and residual hand function. Such data are important to evaluate the relevance of innovative therapeutic approaches, and to plan prospective clinical trials. AIM: To examine the frequency distribution of neurological level of lesion and to investigate the correlation among level, active muscles in the arm and the relation to hand function...
February 2014: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/23610124/performance-of-salivary-cortisol-in-the-diagnosis-of-cushing-s-syndrome-adrenal-incidentaloma-and-adrenal-insufficiency
#16
Filippo Ceccato, Mattia Barbot, Marialuisa Zilio, Sergio Ferasin, Gianluca Occhi, Andrea Daniele, Sara Mazzocut, Maurizio Iacobone, Corrado Betterle, Franco Mantero, Carla Scaroni
OBJECTIVE: Salivary cortisol has recently been suggested for studies on the hypothalamic-pituitary-adrenal (HPA) axis. The lack of circadian rhythm is a marker of Cushing's syndrome (CS), and some authors have reported that low salivary cortisol levels may be a marker of adrenal insufficiency. The aim of our study was to define the role of salivary cortisol in specific diagnostic settings of HPA axis disease. SUBJECTS AND METHODS: We analyzed morning salivary cortisol (MSC) and late-night salivary CORTISOL (LNSC) levels in 406 SUBJECTS: 52 patients with Cushing's disease (CD), 13 with ectopic CS, 17 with adrenal CS, 27 with CD in remission (a mean follow-up of 66±39 months), 45 with adrenal incidentaloma, 73 assessed as having CS and then ruled out for endogenous hypercortisolism, 75 with adrenal insufficiency, and 104 healthy subjects...
July 2013: European Journal of Endocrinology
https://www.readbyqxmd.com/read/23555276/a-novel-mutation-in-the-upstream-open-reading-frame-of-the-cdkn1b-gene-causes-a-men4-phenotype
#17
Gianluca Occhi, Daniela Regazzo, Giampaolo Trivellin, Francesca Boaretto, Denis Ciato, Sara Bobisse, Sergio Ferasin, Filomena Cetani, Elena Pardi, Márta Korbonits, Natalia S Pellegata, Viktoryia Sidarovich, Alessandro Quattrone, Giuseppe Opocher, Franco Mantero, Carla Scaroni
The CDKN1B gene encodes the cyclin-dependent kinase inhibitor p27(KIP1), an atypical tumor suppressor playing a key role in cell cycle regulation, cell proliferation, and differentiation. Impaired p27(KIP1) expression and/or localization are often observed in tumor cells, further confirming its central role in regulating the cell cycle. Recently, germline mutations in CDKN1B have been associated with the inherited multiple endocrine neoplasia syndrome type 4, an autosomal dominant syndrome characterized by varying combinations of tumors affecting at least two endocrine organs...
March 2013: PLoS Genetics
https://www.readbyqxmd.com/read/23360469/genetic-testing-in-benign-familial-epilepsies-of-the-first-year-of-life-clinical-and-diagnostic-significance
#18
Federico Zara, Nicola Specchio, Pasquale Striano, Angela Robbiano, Elena Gennaro, Roberta Paravidino, Nicola Vanni, Francesca Beccaria, Giuseppe Capovilla, Amedeo Bianchi, Lorella Caffi, Viviana Cardilli, Francesca Darra, Bernardo Dalla Bernardina, Lucia Fusco, Roberto Gaggero, Lucio Giordano, Renzo Guerrini, Gemma Incorpora, Massimo Mastrangelo, Luigina Spaccini, Anna Maria Laverda, Marilena Vecchi, Francesca Vanadia, Pierangelo Veggiotti, Maurizio Viri, Guya Occhi, Mauro Budetta, Maurizio Taglialatela, Domenico A Coviello, Federico Vigevano, Carlo Minetti
PURPOSE: To dissect the genetics of benign familial epilepsies of the first year of life and to assess the extent of the genetic overlap between benign familial neonatal seizures (BFNS), benign familial neonatal-infantile seizures (BFNIS), and benign familial infantile seizures (BFIS). METHODS: Families with at least two first-degree relatives affected by focal seizures starting within the first year of life and normal development before seizure onset were included...
March 2013: Epilepsia
https://www.readbyqxmd.com/read/23321498/genetic-analysis-in-young-patients-with-sporadic-pituitary-macroadenomas-besides-aip-don-t-forget-men1-genetic-analysis
#19
MULTICENTER STUDY
Thomas Cuny, Morgane Pertuit, Mona Sahnoun-Fathallah, Adrian Daly, Gianluca Occhi, Marie Françoise Odou, Antoine Tabarin, Marie Laure Nunes, Brigitte Delemer, Vincent Rohmer, Rachel Desailloud, Véronique Kerlan, Olivier Chabre, Jean-Louis Sadoul, Muriel Cogne, Philippe Caron, Christine Cortet-Rudelli, Anne Lienhardt, Isabelle Raingeard, Anne-Marie Guedj, Thierry Brue, Albert Beckers, Georges Weryha, Alain Enjalbert, Anne Barlier
CONTEXT: Germline mutations in the aryl hydrocarbon receptor interacting protein gene (AIP) have been identified in young patients (age ≤30 years old) with sporadic pituitary macroadenomas. Otherwise, there are few data concerning the prevalence of multiple endocrine neoplasia type 1 (MEN1) mutations in such a population. OBJECTIVE: We assessed the prevalence of both AIP and MEN1 genetic abnormalities (mutations and large gene deletions) in young patients (age ≤30 years old) diagnosed with sporadic and isolated macroadenoma, without hypercalcemia and/or MEN1-associated lesions...
April 2013: European Journal of Endocrinology
https://www.readbyqxmd.com/read/23158512/metabolism-and-biological-functions-of-human-milk-oligosaccharides
#20
REVIEW
E Bertino, C Peila, F Giuliani, C Martano, F Cresi, P Di Nicola, L Occhi, G Sabatino, C Fabris
It is well known that breastfeeding is beneficial both for its nutritional properties and for the presence of biologically active compounds. Among these, human milk oligosaccharides (HMOs), representing the third largest fraction of human milk, have been assigned important biological functions, such as prebiotic and immunomodulatory and antimicrobial effects. HMOs are synthesized in the mammary gland by glycosyltransferase enzymes and can be divided in core-oligosaccharides, sialo-oligosaccharides, fucosyl-oligosaccharides and sialo-fucosyl-oligosaccharides on the basis of their chemical structure...
July 2012: Journal of Biological Regulators and Homeostatic Agents
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