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1.
A case of Rubinstein‐Taybi syndrome associated with growth hormone deficiency in childhood 下载免费PDF全文
2.
Floriana S Luppino Edward Grooters Francisca T de Bru?ne Aeilko H Zwinderman Andel G L van der Mey 《Otology & neurotology》2006,27(7):962-968
OBJECTIVE: Conservative treatment in vestibular schwannomas is mainly dependent on optimal tumor size determination. The first objective of this study was to establish interobserver and intraobserver variability and the accuracy and reproducibility of three different measurement methods: one bidimensional and two volumetrical. The second objective was to evaluate the influence of the use of different magnetic resonance imaging (MRI) slice thickness and the influence of patient's repositioning on the measurements' outcome. STUDY DESIGN: Two consecutive studies have been prospectively performed, both mainly concerning volumetrical measurements. SETTING: Both studies were performed in a tertiary academic, multidisciplinary center. PATIENTS: In the first study, 19 patients were included between March 1996 and May 2002, with a total of 52 scans. The second study comprised 14 patients. All patients in the first study had at least two MRI examinations performed according to a standard protocol (T1-weighted gadolinium-enhanced, slice thickness of 3 mm, and interslice gap of 0.3 mm). The population in the second study underwent a conservative wait and scan (W&S) treatment. METHODS: Both studies are discussed separately. In the first study, all scans were measured by four investigators, two of whom performed the measurements twice using three different methods. The first method concerns a manually performed bidimensional surface measurement along the petrous pyramid. The second method concerns a semiautomatic volumetrical measurement on a computer, relying on contour detection, and the last method concerns a fully automatic volume reconstruction also performed on a computer using different gray shade scales.All 14 patients included in the second study underwent three magnetic examinations. Three different T1-weighted gadolinium-enhanced sequences were used: the first using a slice thickness of 1 mm, the second again with 1-mm slice thickness but after having repositioned the patient. In the third sequence, a slice thickness of 3 mm was used. All scans were measured by two investigators using the three different methods, as described previously. RESULTS: The manual surface method shows large intraobserver variability, and its reproducibility is significantly lower compared with volume measurements. Because of a relatively large systematic error in small tumors, sensitivity of growth detection is low. Both volumetrical methods are hardly interobserver- and intraobserver-dependent, and the gray shade method turned out to be the most accurate. Radiologic progression is only significant at a volume increase of at least 50%. The influence of patient repositioning is negligible, whereas the use of 1-mm slice thickness seems to be superior to a 3-mm slice thickness. CONCLUSION: The volumetrical gray shade method is the most accurate method to detect early tumor progression. As tumor increase of at least 50% is needed to be able to speak of statistically significant tumor growth, the absence of radiologic progression does not mean that there is no tumor growth. Repositioning of the patient has no influence on the measurements' outcome, whereas for optimal magnetic resonance imaging examinations, a 1-mm slice thickness protocol seems to be superior. 相似文献
3.
Ennio Del Giudice Maria Cristina Bianchi Michela Tosetti Andrea Varrone Alfonso Romano Angela Francesca Crisanti Luigi Titomanlio Floriana Imperati 《Epileptic Disord》2006,8(4):289-293
Patients with Taylor-type focal cortical dysplasia (TTFCD) generally present with medically intractable epilepsy and impaired neurological and/or intellectual functioning. Surgery usually proves to be the only treatment approach leading to control of seizures. We describe a 17-year-old girl with TTFCD who exhibited a very long period of seizure remission. Combined clinical and neuroimaging findings were compatible with a diagnosis of a balloon cell-subtype TTFCD. As for the clinical course, partial motor seizures began at one year of age and ceased at five: our patient has had no seizure recurrence over a 12-year-follow-up. Moreover, throughout the 15-year follow-up, neurological examinations and cognitive abilities always remained within normal limits. Neuropsychological assessment clearly showed no impairments in executive functions: planning abilities, working memory, attention and impulse control, or constructive aspects of motor coordination. The predominant deficits pertained to verbal abilities in the context of borderline intellectual performances. To our knowledge, this case report documents the longest duration of seizure remission in a patient with TTFCD, thus emphasizing the possible benign course of such dysplastic lesions which usually have a poor prognosis, leading to early surgical treatment. 相似文献
4.
Sergio Daga Chiara Fallerini Margherita Baldassarri Francesca Fava Floriana Valentino Gabriella Doddato Elisa Benetti Simone Furini Annarita Giliberti Rossella Tita Sara Amitrano Mirella Bruttini Ilaria Meloni Anna Maria Pinto Francesco Raimondi Alessandra Stella Filippo Biscarini Nicola Picchiotti Marco Gori Pietro Pinoli Stefano Ceri Maurizio Sanarico Francis P. Crawley Giovanni Birolo GEN-COVID Multicenter Study Alessandra Renieri Francesca Mari Elisa Frullanti 《European journal of human genetics : EJHG》2021,29(5):745
Within the GEN-COVID Multicenter Study, biospecimens from more than 1000 SARS-CoV-2 positive individuals have thus far been collected in the GEN-COVID Biobank (GCB). Sample types include whole blood, plasma, serum, leukocytes, and DNA. The GCB links samples to detailed clinical data available in the GEN-COVID Patient Registry (GCPR). It includes hospitalized patients (74.25%), broken down into intubated, treated by CPAP-biPAP, treated with O2 supplementation, and without respiratory support (9.5%, 18.4%, 31.55% and 14.8, respectively); and non-hospitalized subjects (25.75%), either pauci- or asymptomatic. More than 150 clinical patient-level data fields have been collected and binarized for further statistics according to the organs/systems primarily affected by COVID-19: heart, liver, pancreas, kidney, chemosensors, innate or adaptive immunity, and clotting system. Hierarchical clustering analysis identified five main clinical categories: (1) severe multisystemic failure with either thromboembolic or pancreatic variant; (2) cytokine storm type, either severe with liver involvement or moderate; (3) moderate heart type, either with or without liver damage; (4) moderate multisystemic involvement, either with or without liver damage; (5) mild, either with or without hyposmia. GCB and GCPR are further linked to the GCGDR, which includes data from whole-exome sequencing and high-density SNP genotyping. The data are available for sharing through the Network for Italian Genomes, found within the COVID-19 dedicated section. The study objective is to systematize this comprehensive data collection and begin identifying multi-organ involvement in COVID-19, defining genetic parameters for infection susceptibility within the population, and mapping genetically COVID-19 severity and clinical complexity among patients.Subject terms: Genetics research, Viral infection 相似文献
5.
Cassone M Campanile F Pantosti A Venditti M Stefani S 《Microbial drug resistance (Larchmont, N.Y.)》2004,10(1):43-49
We describe the identification of a variant of the "Rome clone" of methicillin-resistant Staphylococcus aureus (MRSA), responsible for an outbreak involving 5 patients in a Cardiac Surgery Intensive Care Unit (CS-ICU) of a tertiary-care University Hospital in Rome. All strains isolated from patients and from nasal swabs obtained from four members of the CS-ICU personnel, belonged to the same identified clone. The characteristics of this clone were: (1) resistance to ampicillin, oxacillin, gentamicin, ciprofloxacin, erythromycin, clindamycin, rifampin, spectinomycin, and tetracycline; (2) vancomycin and teicoplanin MICs respectively of 2 and 4 mg/L; (3) heteroresistant subpopulations in the presence of 4 and 6 mg/L of vancomycin (10(-3) and 10(-5), respectively); (4) clonal type I::J::C determined following an established protocol (mec A::Tn 554 ::PFGE); (5) sequence type ST247 (3-3-1-12-4-4-16), obtained by multilocus sequence typing (MLST); and (6) the staphylococcal cassette chromosome mec (SCC) IA, obtained by multiplex PCR method. This new strain had different characteristics from the epidemic clone circulating in the same hospital from 1997 and designed "Rome clone," which was susceptible to erythromycin, clindamycin, and spectinomycin and belonged to the II::NH::C genetic background. A high genetic similarity between this Rome clone and the previously classified Archaic and Iberian clones was found, because they shared the same allelic profile (ST247), probably originating from the same S. aureus ancestor of the Iberian MRSA strains. Therefore, the strains responsible for the outbreak, with vancomycin MICs 2-4 mg/L, are variant clones, showing the genotype of the "Rome clone," the ST247 in association with SCC mec type IA (ST247-MRSA-IA), and are characterized by a uniform susceptibility to fosfomycin. 相似文献
6.
Floriana Campanile Gino Mongelli Dafne Bongiorno Chiara Adembri Milva Ballardini Marco Falcone Francesco Menichetti Antonella Repetto Carla Sabia Assunta Sartor Claudio Scarparo Carlo Tascini Mario Venditti Federica Zoppi Stefania Stefani 《Journal of clinical microbiology》2013,51(4):1256-1259
In order to assess the frequency of clinically relevant linezolid-resistant staphylococcal isolates, and the role of linezolid in maintaining and coselecting multiple resistance mechanisms (cfr, 23S rRNA, L3/L4 mutations), a prospective Italian study was performed from 2010 to 2011 to confirm the diffusion of three major multidrug-resistant clones (ST2, ST5, ST23). 相似文献
7.
Floriana Mulas Xu Wang Shanshan Song Gopala Nishanth Wenjing Yi Anna Brunn Pia-Katharina Larsen Berend Isermann Ulrich Kalinke Antonio Barragan Michael Naumann Martina Deckert Dirk Schlüter 《Cellular & molecular immunology》2021,18(6):1512
Dendritic cells (DCs) are indispensable for defense against pathogens but may also contribute to immunopathology. Activation of DCs upon the sensing of pathogens by Toll-like receptors (TLRs) is largely mediated by pattern recognition receptor/nuclear factor-κB (NF-κB) signaling and depends on the appropriate ubiquitination of the respective signaling molecules. However, the ubiquitinating and deubiquitinating enzymes involved and their interactions are only incompletely understood. Here, we reveal that the deubiquitinase OTU domain, ubiquitin aldehyde binding 1 (OTUB1) is upregulated in DCs upon murine Toxoplasma gondii infection and lipopolysaccharide challenge. Stimulation of DCs with the TLR11/12 ligand T. gondii profilin and the TLR4 ligand lipopolysaccharide induced an increase in NF-κB activation in OTUB1-competent cells, resulting in elevated interleukin-6 (IL-6), IL-12, and tumor necrosis factor (TNF) production, which was also observed upon the specific stimulation of TLR2, TLR3, TLR7, and TLR9. Mechanistically, OTUB1 promoted NF-κB activity in DCs by K48-linked deubiquitination and stabilization of the E2-conjugating enzyme UBC13, resulting in increased K63-linked ubiquitination of IRAK1 (IL-1 receptor-associated kinase 1) and TRAF6 (TNF receptor-associated factor 6). Consequently, DC-specific deletion of OTUB1 impaired the production of cytokines, in particular IL-12, by DCs over the first 2 days of T. gondii infection, resulting in the diminished production of protective interferon-γ (IFN-γ) by natural killer cells, impaired control of parasite replication, and, finally, death from chronic T. encephalitis, all of which could be prevented by low-dose IL-12 treatment in the first 3 days of infection. In contrast, impaired OTUB1-deficient DC activation and cytokine production by OTUB1-deficient DCs protected mice from lipopolysaccharide-induced immunopathology. Collectively, these findings identify OTUB1 as a potent novel regulator of DCs during infectious and inflammatory diseases. 相似文献
8.
Joo Manoel Rossi Neto Antonio Sergio Tebexreni Alexandre Novakoski F. Alves Floriana Bertini Abreu Priscilla Ayumi Nishio Mauricio Cruz Thomazi Ivana Antelmi Paola Emanuela P. Smanio 《Arquivos brasileiros de cardiologia》2020,115(3):468
Background The most widely used data for cardiorespiratory fitness (CRF) referrals are from the Cooper Clinic, which uses calculated maximal oxygen uptake (VO2max) values.Objective To develop CRF values from cardiopulmonary exercise testing (CPX) in a Brazilian population with high socioeconomic level and free of structural heart disease. VO2max testing results were compared with the Cooper Clinic and FRIEND Registry data.Methods CPX data from consecutive individuals between January 1,2000, and May 31,2016 were used in this study. Inclusion criteria were: VO2max by a pre-specified definition. We built a CRF chart according to VO2max percentiles: very poor (≤20%), poor (20-40%), fair (40-60%), good (60-80%), excellent (80-90%), and superior (≥90%). Kappa correlation was used to analyze our data in comparison with that of the other two databases. Statistical tests with p<0.005 were considered significant.Results Final cohort included 18,186 tests: 12,552 men, 5,634 women (7–84 years). The most recurrent response was “good” (20.2%). There was a mean difference in weight, height, body mass index (BMI), and age in the CRF chart. An inverse correlation existed between VO2max and age, weight, and BMI. Using a linear regression and these variables, a predictive equation was developed for VO2max. Our findings differed from that of the other databases.Conclusion We developed a classification for CRF and found higher values in all classification ranges of functional capacity in contrast to the Cooper Clinic and FRIEND Registry. Our findings offer a more accurate interpretation of ACR in this large Brazilian population sample when compared to previous standards based on the estimated VO2max. (Arq Bras Cardiol. 2020; 115(3):468-477) 相似文献
9.
Enzo Ierardi Claudia Sorrentino Mariabeatrice Principi Floriana Giorgio Giuseppe Losurdo Alfredo Di Leo 《肝胆外科与营养》2015,4(4):289-292
Intestinal microbiota is a “dynamic organ” influencing host metabolism, nutrition, physiology and immune system. Among its several interactions, the role of a phosphatidylcholine metabolite derived by gut flora activity, i.e., trimethylamine-N-oxide (TMAO), allows perceiving a novel insight in the cardiovascular risk scenario, being a strong predictor of this condition. Based on current reports, including the paper of Tang et al., we describe here: the possible role of intestinal microbiota in cardiovascular risk as well as potential interventions to reduce gut flora TMAO production by diet, probiotics and antibiotics. Finally, we highlight the possibility of evaluating, monitoring and modulating TMAO in order to use its serum levels as a marker of cardiovascular risk in the next future, when the need of controlled studies on large series will be satisfied. 相似文献
10.