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https://www.readbyqxmd.com/read/27588455/gnb5-mutations-cause-an-autosomal-recessive-multisystem-syndrome-with-sinus-bradycardia-and-cognitive-disability
#1
Elisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, Wojciech Wiszniewski, Carolina Fischinger Moura de Souza, Najim Lahrouchi, Nicolas Guex, Valerio Napolioni, Federico Tessadori, Leander Beekman, Eline A Nannenberg, Lamiae Boualla, Nico A Blom, Wim de Graaff, Maarten Kamermans, Dario Cocciadiferro, Natascia Malerba, Barbara Mandriani, Zeynep Hande Coban Akdemir, Richard J Fish, Mohammad K Eldomery, Ilham Ratbi, Arthur A M Wilde, Teun de Boer, William F Simonds, Marguerite Neerman-Arbez, V Reid Sutton, Fernando Kok, James R Lupski, Alexandre Reymond, Connie R Bezzina, Jeroen Bakkers, Giuseppe Merla
No abstract text is available yet for this article.
September 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27565688/oil-water-nano-emulsion-loaded-with-cobalt-ferrite-oxide-nanocubes-for-photo-acoustic-and-magnetic-resonance-dual-imaging-in-cancer-in-vitro-and-preclinical-studies
#2
Raffaele Vecchione, Vincenzo Quagliariello, Pierangela Giustetto, Dominic Calabria, Ayyappan Sathya, Roberto Marotta, Martina Profeta, Simone Nitti, Niccolò Silvestri, Teresa Pellegrino, Rosario V Iaffaioli, Paolo Antonio Netti
Dual imaging dramatically improves detection and early diagnosis of cancer. In this work we present an oil in water (O/W) nano-emulsion stabilized with lecithin and loaded with cobalt ferrite oxide (Co0.5Fe2.5O4) nanocubes for photo-acoustic and magnetic resonance dual imaging. The nanocarrier is responsive in in vitro photo-acoustic and magnetic resonance imaging (MRI) tests. A clear and significant time-dependent accumulation in tumor tissue is shown in in vivo photo-acoustic studies on a murine melanoma xenograft model...
August 24, 2016: Nanomedicine: Nanotechnology, Biology, and Medicine
https://www.readbyqxmd.com/read/27523599/gnb5-mutations-cause-an-autosomal-recessive-multisystem-syndrome-with-sinus-bradycardia-and-cognitive-disability
#3
Elisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, Wojciech Wiszniewski, Carolina Fischinger Moura de Souza, Najim Lahrouchi, Nicolas Guex, Valerio Napolioni, Federico Tessadori, Leander Beekman, Eline A Nannenberg, Lamiae Boualla, Nico A Blom, Wim de Graaff, Maarten Kamermans, Dario Cocciadiferro, Natascia Malerba, Barbara Mandriani, Zeynep Hande Coban Akdemir, Richard J Fish, Mohammad K Eldomery, Ilham Ratbi, Arthur A M Wilde, Teun de Boer, William F Simonds, Marguerite Neerman-Arbez, V Reid Sutton, Fernando Kok, James R Lupski, Alexandre Reymond, Connie R Bezzina, Jeroen Bakkers, Giuseppe Merla
GNB5 encodes the G protein β subunit 5 and is involved in inhibitory G protein signaling. Here, we report mutations in GNB5 that are associated with heart-rate disturbance, eye disease, intellectual disability, gastric problems, hypotonia, and seizures in nine individuals from six families. We observed an association between the nature of the variants and clinical severity; individuals with loss-of-function alleles had more severe symptoms, including substantial developmental delay, speech defects, severe hypotonia, pathological gastro-esophageal reflux, retinal disease, and sinus-node dysfunction, whereas related heterozygotes harboring missense variants presented with a clinically milder phenotype...
September 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/26544243/durable-improvements-in-urinary-incontinence-and-positive-treatment-response-in-patients-with-idiopathic-overactive-bladder-syndrome-following-long-term-onabotulinumtoxina-treatment-final-results-of-3-5-year-study
#4
E Chartier-Kastler, V Nitti, D De Ridder, D Sussman, P Sand, K Sievert, C Chapple, J Charmaine, A Magyar, S Radomski
OBJECTIVES: Here we present the final results from an extension study assessing long-term onabotulinumtoxinA treatment (3.5 years) in patients with idiopathic overactive bladder. METHODS: Patients who completed either of 2 Phase III trials were eligible to enter a 3-year extension study in which they received multiple onabotulinumtoxinA (100 U) treatments. Data were analyzed for the overall population of patients who received 100 U in any treatment cycle (n=829) and within discrete subgroups of patients who received exactly 1 (n=105), 2 (n=118), 3 (n=117), 4 (n=83), 5 (n=46), or 6 (n=33) treatments of the 100 U dose throughout the study (n=502)...
November 2015: Progrès en Urologie
https://www.readbyqxmd.com/read/25800719/her2-status-in-gastroesophageal-cancer-a-tissue-microarray-study-of-1040-cases
#5
Rocco Cappellesso, Matteo Fassan, Esther Hanspeter, Jan Bornschein, Emanuele S G d'Amore, Lucia V Cuorvo, Guido Mazzoleni, Mattia Barbareschi, Marco Pizzi, Vincenza Guzzardo, Peter Malfertheiner, Marjan Micev, Maria Guido, Luciano Giacomelli, Vladislav V Tsukanov, Vittorina Zagonel, Donato Nitti, Massimo Rugge
Among patients with gastric cancer (GC) and gastroesophageal cancer (G-EC), HER2 amplification identifies those who may benefit from trastuzumab. HER2 status assessment, however, is influenced by preanalytic, analytic, and postanalytic variables. In a series of 5426 microarray cancer tissue cores obtained from 1040 GC/G-ECs (824 GC, 216 G-EC) and 720 synchronous nodal metastases, we evaluated both the performances of 2 different immunohistochemistry (IHC) protocols and the HER2 status intratumor variability...
May 2015: Human Pathology
https://www.readbyqxmd.com/read/24972946/the-virtue-sling-a-new-quadratic-sling-for-postprostatectomy-incontinence-results-of-a-multinational-clinical-trial
#6
MULTICENTER STUDY
Craig V Comiter, Eugene Y Rhee, Le-Mai Tu, Sender Herschorn, Victor W Nitti
OBJECTIVE: To successfully perform male sling surgery, and the surgery must achieve proximal urethral relocation and/or bulbar urethral compression. The Virtue quadratic sling is a novel device that incorporates both mechanisms of action. We report the 1-year results of the Virtue sling with fixation and compare it with the results of the initial "unfixed" sling trial. METHODS: A prospective trial was performed to assess the efficacy and safety of the Virtue sling...
August 2014: Urology
https://www.readbyqxmd.com/read/24754838/onabotulinumtoxina-100u-provides-significant-improvements-in-overactive-bladder-symptoms-in-patients-with-urinary-incontinence-regardless-of-the-number-of-anticholinergic-therapies-used-or-reason-for-inadequate-management-of-overactive-bladder
#7
K-D Sievert, C Chapple, S Herschorn, M Joshi, J Zhou, C Nardo, V W Nitti
INTRODUCTION: A prespecified pooled analysis of two placebo-controlled, phase 3 trials evaluated whether the number of prior anticholinergics used or reason for their discontinuation affected the treatment response to onabotulinumtoxinA 100U in overactive bladder (OAB) patients with urinary incontinence (UI). METHODS: Patients with symptoms of OAB received intradetrusor injections of onabotulinumtoxinA 100U or placebo, sparing the trigone. Change from baseline at week 12 in UI episodes/day, proportion of patients reporting a positive response ('greatly improved' or 'improved') on the treatment benefit scale (TBS), micturition and urgency were evaluated by number of prior anticholinergics (1, 2 or ≥ 3) and reason for their discontinuation (insufficient efficacy or side effects)...
October 2014: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/24703195/safety-and-tolerability-of-the-%C3%AE-3-adrenoceptor-agonist-mirabegron-for-the-treatment-of-overactive-bladder-results-of-a-prospective-pooled-analysis-of-three-12-week-randomised-phase-iii-trials-and-of-a-1-year-randomised-phase-iii-trial
#8
RANDOMIZED CONTROLLED TRIAL
V W Nitti, C R Chapple, C Walters, M B Blauwet, S Herschorn, I Milsom, S Auerbach, P Radziszewski
AIMS: To evaluate the safety and tolerability of the β3 -adrenoceptor agonist, mirabegron, in patients with overactive bladder (OAB). METHODS: Tolerability and safety data from three 12-week, randomised, placebo-controlled, double-blind, Phase III trials (Studies 046, 047 and 074) were pooled by treatment group. The three studies were of a similar design, although the assessed doses of mirabegron [25, 50 or 100 mg once daily (qd)] varied, and tolterodine extended release (ER) 4 mg was included as an active-control arm in Study 046 only...
August 2014: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/23850394/evidence-available-on-the-use-of-the-selective-%C3%AE-3-adrenoceptor-agonist-mirabegron-for-the-treatment-of-overactive-bladder
#9
REVIEW
J C Angulo, V Khullar, V W Nitti, E Siddiqui
CONTEXT: Mirabegron, the selective β3-adrenoceptor agonist, heralds the latest development for the treatment of overactive bladder (OAB). OBJECTIVE: To present the evidence available on the efficacy and tolerability of mirabegron and to discuss this treatment's potential in our setting. EVIDENCE ACQUISITION: We reviewed 11 studies conducted with mirabegron in patients with OAB (2 phase II, 9 phase III), all studies were compared to placebo with 6 studies also including tolterodine as an additional arm...
November 2013: Actas Urologicas Españolas
https://www.readbyqxmd.com/read/23692526/mirabegron-for-the-treatment-of-overactive-bladder-a-prespecified-pooled-efficacy-analysis-and-pooled-safety-analysis-of-three-randomised-double-blind-placebo-controlled-phase-iii-studies
#10
COMPARATIVE STUDY
V W Nitti, V Khullar, P van Kerrebroeck, S Herschorn, J Cambronero, J C Angulo, M B Blauwet, C Dorrepaal, E Siddiqui, N E Martin
INTRODUCTION: To examine pooled efficacy data from three, large phase III studies comparing mirabegron (50 and 100 mg) with placebo, and pooled safety data including additional mirabegron 25 mg and tolterodine extended release (ER) 4 mg results. METHODS: This prespecified pooled analysis of three randomised, double-blind, placebo-controlled, 12-week studies, evaluated efficacy and safety of once-daily mirabegron 25 mg (safety analysis), 50 or 100 mg (efficacy and safety analyses) and tolterodine ER 4 mg (safety analysis) for the treatment of symptoms of overactive bladder (OAB)...
July 2013: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/23412017/different-surgical-approaches-for-stress-urinary-incontinence-in-women
#11
REVIEW
J Mischinger, B Amend, C Reisenauer, J Bedke, G Naumann, M Germann, S Kruck, L F Arenas Desilva, H Wallwiener, H Koelbl, V Nitti, K D Sievert
Stress urinary incontinence (SUI) constitutes involuntary voiding as a consequence of rising intra-abdominal pressure caused by sphincter weakness. In recent years studies were published according to surgical SUI management evaluating and comparing therapy options and outcomes. Therapy options were evaluated using a Medline search, including only publications in English between 2000-2012. Key words used were: SUI, conservative and surgical treatment, midurethral sling, colposuspension. Surgical treatment options demonstrate significantly better results than conservative treatment...
February 2013: Minerva Ginecologica
https://www.readbyqxmd.com/read/23396294/multivariate-analysis-approach-to-the-serum-peptide-profile-of-morbidly-obese-patients
#12
M Agostini, C Bedin, M V Enzo, L Molin, P Traldi, E D'Angelo, E Maschietto, R Serraglia, E Ragazzi, L Prevedello, M Foletto, D Nitti
BACKGROUND: Obesity is currently epidemic in many countries worldwide and is strongly related to diabetes and cardiovascular disease. Mass spectrometry, in particular matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) is currently used for detecting different pattern of expressed protein. This study investigated the differences in low molecular weight (LMW) peptide profiles between obese and normal-weight subjects in combination with multivariate statistical analysis...
2013: Disease Markers
https://www.readbyqxmd.com/read/23322193/telomerase-is-an-independent-prognostic-marker-of-overall-survival-in-patients-with-colorectal-cancer
#13
R Bertorelle, M Briarava, E Rampazzo, L Biasini, M Agostini, I Maretto, S Lonardi, M L Friso, C Mescoli, V Zagonel, D Nitti, A De Rossi, S Pucciarelli
BACKGROUND: Colorectal cancer (CRC) is an important cause of cancer-related death. Prediction of recurrence is an important issue in the treatment of disease, particularly for stage II patients. The level of telomere-specific reverse transcriptase (hTERT), the catalytic component of the telomerase complex, increases along with CRC progression, but its prognostic value is still unclear. METHODS: One hundred and thirty-seven CRC patients were studied for hTERT expression in tumour cells by real-time PCR...
February 5, 2013: British Journal of Cancer
https://www.readbyqxmd.com/read/23154546/a-pilot-characterization-of-human-lung-nsclc-by-protein-pathway-activation-mapping
#14
Angela Zupa, Giuseppina Improta, Alessandra Silvestri, Elisa Pin, Jianghong Deng, Michele Aieta, Pellegrino Musto, Donato Nitti, Enzo Mammano, Lance Liotta, Claudio Belluco, Julia Wulfkuhle, Emanuel Petricoin
BACKGROUND: An understanding of the activated protein signaling architecture in non-small-cell lung cancer (NSCLC) is of critical importance to the development of new therapeutic approaches and identification of predictive and prognostic biomarkers for patient stratification. METHODS: We used reverse-phase protein microarrays to map the activated protein signaling networks of 47 NSCLC tumors, 28 of which were node negative, which were subjected to tumor cellular enrichment using laser capture microdissection...
December 2012: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/23011155/circulating-cell-free-dna-a-promising-marker-of-regional-lymphonode-metastasis-in-breast-cancer-patients
#15
M Agostini, M V Enzo, C Bedin, V Belardinelli, E Goldin, P Del Bianco, E Maschietto, E D'Angelo, Leo Izzi, A Saccani, G Zavagno, D Nitti
PURPOSE: We undertook the current study with untreated breast cancer to (1) role the variations in the plasma levels of cfDNA and the size distribution in early stage, (2) determine the frequency in plasma of methylation of three candidate genes, RASSF1A, MAL, and SFRP1, and (3) to determine whether detection of cfDNA variations and methylation changes in plasma might have specific clinical utility. METHODS AND MATERIALS: Thirty-nine patients woman patients (median age 64 years; range, 36-90 years) who underwent surgery for primary BR and 49 healthy females' subjects (control group without any breast lesion) were evaluated...
2012: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/22658458/multiplexed-protein-signal-pathway-mapping-identifies-patients-with-rectal-cancer-that-responds-to-neoadjuvant-treatment
#16
Enzo Mammano, Francesca Galdi, Mariaelena Pierobon, Emanuela Tessari, Jianghong Deng, Salvatore Pucciarelli, Marco Agostini, Francesco De Marchi, Vincenzo Canzonieri, Antonino De Paoli, Claudio Belluco, Lance Liotta, Emanuel Petricoin, Pierluigi Pilati, Donato Nitti
BACKGROUND: Currently there is no reliable technique for predicting clinical or pathologic complete tumor response after radiochemotherapy (RCT) in patients with rectal cancer. We applied reverse phase protein microarray (RPMA) technology to find a signal pathway that may predict the response to preoperative treatment. PATIENTS AND METHODS: Fifteen rectal cancer samples were collected during preoperative RCT. Seven patients had a good response to preoperative therapy (Mandard grade I-II) and 8 patients had a poor response (Mandard grade III-V)...
December 2012: Clinical Colorectal Cancer
https://www.readbyqxmd.com/read/22177174/a-new-quadratic-sling-for-male-stress-incontinence-retrograde-leak-point-pressure-as-a-measure-of-urethral-resistance
#17
Craig V Comiter, Victor Nitti, Christopher Elliot, Eugene Rhee
PURPOSE: Objective methods are essential for evaluating post-prostatectomy incontinence. While symptom score and pad weight may be the most useful methods to evaluate preoperative vs postoperative continence, neither is useful for guiding intraoperative sling tension. The Virtue quadratic sling (Coloplast, Humlebaek, Denmark) is a new device for treating post-prostatectomy incontinence that combines a transobturator and prepubic surgical approach. We examined urethral resistance by measuring retrograde leak point pressure during key portions of the surgery...
February 2012: Journal of Urology
https://www.readbyqxmd.com/read/20542659/separate-cavity-margins-excision-as-a-complement-to-conservative-breast-cancer-surgery
#18
COMPARATIVE STUDY
G Zavagno, M Donà, E Orvieto, S Mocellin, S Pasquali, E Goldin, M Lo Mele, V Belardinelli, D Nitti
BACKGROUND: Positive lumpectomy margins (LM) usually mandate re-excision. However, approximately half of these patients have no residual tumour in the re-excision specimen. The aim of this study was to investigate if separate cavity margin (CM) excision can safely reduce the need of re-operation. METHODS: Rate of re-operation for margin involvement and incidence of residual tumour in the re-excision specimen were retrospectively evaluated in 237 patients (group A) who underwent lumpectomy alone, and in 271 patients (group B) treated by lumpectomy and CM excision...
July 2010: European Journal of Surgical Oncology
https://www.readbyqxmd.com/read/20368715/tumor-response-is-predicted-by-patient-genetic-profile-in-rectal-cancer-patients-treated-with-neo-adjuvant-chemo-radiotherapy
#19
E Cecchin, M Agostini, S Pucciarelli, A De Paoli, V Canzonieri, R Sigon, E De Mattia, M L Friso, P Biason, M Visentin, D Nitti, G Toffoli
The aim of the study was the identification of a pharmacogenetic profile predictive of the tumor regression grade (TRG), considered as tumor response parameter, after neo-adjuvant treatment in rectal cancer patients. A total of 238 rectal cancer patients treated in a neo-adjuvant setting by a fluoropyrimidines-based chemo-radiotherapy (RT) were genotyped for 25 genetic polymorphisms in 16 genes relevant for treatment-associated pathways. Two polymorphisms were associated with TRG in a multivariate analysis: hOGG1-1245C > G, which can affect radiosensitivity and MTHFR-677C > T, which is involved in fluoropyrimidines action...
June 2011: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/20025020/fourth-international-consultation-on-incontinence-recommendations-of-the-international-scientific-committee-evaluation-and-treatment-of-urinary-incontinence-pelvic-organ-prolapse-and-fecal-incontinence
#20
REVIEW
P Abrams, K E Andersson, L Birder, L Brubaker, L Cardozo, C Chapple, A Cottenden, W Davila, D de Ridder, R Dmochowski, M Drake, C Dubeau, C Fry, P Hanno, J Hay Smith, S Herschorn, G Hosker, C Kelleher, H Koelbl, S Khoury, R Madoff, I Milsom, K Moore, D Newman, V Nitti, C Norton, I Nygaard, C Payne, A Smith, D Staskin, S Tekgul, J Thuroff, A Tubaro, D Vodusek, A Wein, J J Wyndaele
No abstract text is available yet for this article.
2010: Neurourology and Urodynamics
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