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141.
Diffusion Tensor Imaging Mapping of Brain White Matter Pathology in Mitochondrial Optic Neuropathies
D.N. Manners G. Rizzo C. La Morgia C. Tonon C. Testa P. Barboni E. Malucelli M.L. Valentino L. Caporali D. Strobbe V. Carelli R. Lodi 《AJNR. American journal of neuroradiology》2015,36(7):1259
BACKGROUND AND PURPOSE:Brain white matter is frequently affected in mitochondrial diseases; optic atrophy gene 1-autosomal dominant optic atrophy and Leber hereditary optic neuropathy are the most frequent mitochondrial monosymptomatic optic neuropathies. In this observational study, brain white matter microstructure was characterized by DTI in patients with optic atrophy gene 1-autosomal dominant optic atrophy and Leber hereditary optic neuropathy, in relation to clinical and genetic features.MATERIALS AND METHODS:Nineteen patients with optic atrophy gene 1-autosomal dominant optic atrophy and 17 with Leber hereditary optic neuropathy older than 18 years of age, all genetically diagnosed, and 19 healthy volunteers underwent DTI by using a 1.5T MR imaging scanner and neurologic and ophthalmologic assessments. Brain white matter DTI metrics were calculated for all participants, and, in patients, their correlations with genetics and clinical findings were calculated.RESULTS:Compared with controls, patients with optic atrophy gene 1-autosomal dominant optic atrophy had an increased mean diffusivity in 29.2% of voxels analyzed within major white matter tracts distributed throughout the brain, while fractional anisotropy was reduced in 30.3% of voxels. For patients with Leber hereditary optic neuropathy, the proportion of altered voxels was only 0.5% and 5.5%, respectively, of which half was found within the optic radiation and 3.5%, in the smaller acoustic radiation. In almost all regions, fractional anisotropy diminished with age in patients with optic atrophy gene 1-autosomal dominant optic atrophy and correlated with average retinal nerve fiber layer thickness in several areas. Mean diffusivity increased in those with a missense mutation. Patients with Leber hereditary optic neuropathy taking idebenone had slightly milder changes.CONCLUSIONS:Patients with Leber hereditary optic neuropathy had preferential involvement of the optic and acoustic radiations, consistent with trans-synaptic degeneration, whereas patients with optic atrophy gene 1-autosomal dominant optic atrophy presented with widespread involvement suggestive of a multisystemic, possibly a congenital/developmental, disorder. White matter changes in Leber hereditary optic neuropathy and optic atrophy gene 1-autosomal dominant optic atrophy may be exploitable as biomarkers.Mutations in optic atrophy gene 1 are the main cause of autosomal dominant optic atrophy (DOA) (Online Mendelian Inheritance in Man 605290).1,2 DOA is characterized clinically by insidiously progressive visual loss in childhood, centrocecal scotoma, dyschromatopsia, and temporal or diffuse pallor of the optic discs, due to selective loss of retinal ganglion cells leading to atrophy of the optic nerve.1,2 Similarly, Leber hereditary optic neuropathy (LHON) (Online Mendelian Inheritance in Man 535000) is characterized by subacute loss of central vision, dyschromatopsia, and optic atrophy due to maternally inherited point mutations in mitochondrial DNA that affect respiratory complex I.1,2DOA and LHON represent the so-called nonsyndromic mitochondrial optic neuropathies, characterized by optic nerve atrophy as the only or at least prevalent pathologic feature with an early and preferential involvement of the small fibers in the papillomacular bundle.3,4 Recent MR imaging studies by using voxel-based morphometry,5 DWI,6 and DTI7 have also indicated abnormalities of the optic radiation in patients with LHON, confirmed by postmortem investigation,6 suggesting a trans-synaptic degeneration. A similar secondary involvement of the retrogeniculate visual pathway could also be hypothesized in patients with DOA. Furthermore, given that the optic atrophy gene 1 (OPA1) is highly expressed in the retina but also in the brain1,2,8 and that a subgroup of patients with specific OPA1 mutations have a multisystem neurologic disorder,9 it is reasonable to also hypothesize a subclinical extravisual brain involvement in patients with OPA1-DOA.The aim of the present study was to investigate the brain white matter of patients with OPA1-DOA compared with those with LHON and healthy controls, by using a voxelwise analysis of DTI, which can disclose abnormal water diffusivity in brain areas where atrophy and/or gliosis occur,10 to look for subtle structural alterations. 相似文献
142.
Banding the Right Ventricular Assist Device Outflow Conduit: Is It Really Necessary With Current Devices?
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Casey Lo Shaun Gregory Michael Stevens Deirdre Murphy Silvana Marasco 《Artificial organs》2015,39(12):1055-1061
Implantable left ventricular assist devices (LVADs) have been adapted clinically for right‐sided mechanical circulatory support (RVAD). Previous studies on RVAD support have established the benefits of outflow cannula restriction and rotational speed reduction, and recent literature has focused on assessing either the degree of outflow cannula restriction required to simulate left‐sided afterload, or the limitation of RVAD rotational speeds. Anecdotally, the utility of outflow cannula restriction has been questioned, with suggestion that banding may be unnecessary and may be replaced simply by varying the outflow conduit length. Furthermore, many patients have a high pulmonary vascular resistance (PVR) at the time of ventricular assist device (VAD) insertion that reduces with pulmonary vascular bed remodeling. It is therefore important to assess the potential changes in flow through an RVAD as PVR changes. In this in vitro study, we observed the use of dual HeartWare HVAD devices (HeartWare Inc., Framingham, MA, USA) in biventricular support (BiVAD) configuration. We assessed the pumps' ability to maintain hemodynamic stability with and without banding; and with varying outflow cannulae length (20, 40, and 60 cm). Increased length of the outflow conduit was found to produce significantly increased afterload to the device, but this was not found to be necessary to maintain the device within the manufacturer's recommended operational parameters under a simulated normal physiological setting of mild and severe right ventricular (RV) failure. We hypothesize that 40 cm of outflow conduit, laid down along the diaphragm and then up over the RV to reach the pulmonary trunk, will generate sufficient resistance to maintain normal pump function. 相似文献
143.
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145.
Vincenzo?Pavone Anna?MeleEmail author Daniela?Carlino Giorgina?Specchia Francesco?Gaudio Tommasina?Perrone Patrizio?Mazza Giulia?Palazzo Attilio?Guarini Giacomo?Loseto Prete?Eleonora Nicola?Cascavilla Potito?Scalzulli Angela?Melpignano Giovanni?Quintana Nicola?Di Renzo Giuseppe?Tarantini Silvana?Capalbo 《Annals of hematology》2018,97(10):1817-1824
Brentuximab vedotin (BV) shows a high overall response rate (ORR) in relapsed/refractory (R/R) Hodgkin lymphoma (HL) after autologous transplant (ASCT). The aim of this multicenter study, conducted in nine Hematology Departments of Rete Ematologica Pugliese, was to retrospectively evaluate the efficacy and safety of BV as salvage therapy and as bridge regimen to ASCT or allogeneic transplant (alloSCT) in R/R HL patients. Seventy patients received BV. Forty-five patients (64%) were treated with BV as bridge to transplant:16 (23%) patients as bridge to ASCT and 29 (41%) as bridge to alloSCT. Twenty-five patients (36%), not eligible for transplant, received BV as salvage treatment. The ORR was 59% (CR 26%). The ORR in transplant naïve patients was 75% (CR 31%). In patients treated with BV as bridge to alloSCT, the ORR was 62% (CR 24%). In a multivariate analysis, the ORR was lower in refractory patients (p?<?0.005). The 2y-OS was 70%. The median PFS was 17 months. Ten of the 16 (63%) naïve-transplant patients received ASCT, with 50% in CR before ASCT. In the 29 patients treated with BV as bridge to alloSCT, 28 (97%) proceeded to alloSCT with 25% in CR prior to alloSCT. The most common adverse events were peripheral neuropathy (50%), neutropenia (29%) and anemia (12%). These data suggest that BV is well tolerated and very effective in R/R HL, producing a substantial level of CR. BV may also be a key therapeutic agent to achieve good disease control before transplant, improving post- transplant outcomes, also in refractory and heavily pretreated patients, without significant overlapping toxicities with prior therapies. 相似文献
146.
G. Leandro Daniela Basso C. Fabris S. Zizzari Silvana Elba G. Del Favero F. Di Mario Tamara Meggiato Cristina Angonese R. Naccarato 《Journal of cancer research and clinical oncology》1989,115(3):276-278
Summary This study was undertaken in order to compare the usefulness of three indices of tumour proliferation in detecting primary hepatocellular carcinoma (HCC) and in differentiating this neoplasm from liver cirrhosis. In 10 patients with HCC and in 63 with liver cirrhosis serum -fetoprotein (AFP), tissue polypeptide antigen (TPA) and ferritin were assayed. Increased levels of AFP but not of TPA and ferritin were observed in HCC as compared to liver cirrhosis. The receiver-operating characteristic curves demonstrated that AFP is more discriminating between HCC and liver cirrhosis than the other two markers. Correlations between liver function tests and serum markers were observed in liver cirrhosis but not in HCC. We can conclude that AFP is more useful than TPA and ferritin in detecting HCC in patients with liver cirrhosis, owing to the high frequency of false positive results of the latter two indices in liver cirrhosis. Liver dysfunction is probably involved in increasing all these markers of malignancy, thus reducing the specificity of these tests.Abbreviations AFP
-tetoprotein
- TPA
tissue polypeptide antigen
- HCC
primary hepatocellular carcinoma
Partially supported by a grant of the Italian National Research Council, Special Project Oncology, contract 87.01.541.04. Under the auspices of the R. Farini association for gastroenterological research 相似文献
147.
D Solé A T Vanna E Yamada M C Rizzo C K Naspitz 《Journal of investigational allergology & clinical immunology》1998,8(6):376-382
Written questionnaires have been widely used in epidemiological studies of asthma. However, when translated to another language, they must be validated. The International Study of Asthma and Allergies in Childhood (ISAAC) written questionnaire had been previously validated by a comprehensive study, but this had not been done in Brazil. Our objective was to validate the asthma component of the ISAAC self-applicable written questionnaire following its translation to Portuguese. A group of 10 pediatricians and 10 pediatric allergists graded the questions from 0 to 2, and established a maximum score for each question. The questionnaire was answered by parents or guardians of asthmatic children, aged 6 to 7 years old (n = 26) and of nonasthmatic control children of the same age (n = 26); and by asthmatic (n = 33) and nonasthmatic (n = 33) adolescents, aged 13 to 14 years. Half of these individuals responded to the same questionnaire after 2 to 4 weeks. This second response allowed the evaluation of the reproducibility of the ISAAC questionnaire. The maximum global score possible was 14, and cut-off levels of 5 and 6 were found for the groups of 6 to 7 and 13 to 14 year olds, respectively. There was significant agreement between the adolescents' responses to the questionnaire and those from their parents or guardians (74.3%); however, significant discordance was observed for individual questions including "wheezing with exercise." In both age periods the questionnaire was significantly reproducible (Kappa test) (6 to 7 year olds Kw = 1; 13 to 14 year olds Kw = 0.89). In conclusion, the asthma component of the ISAAC written questionnaire was proven to be reproducible, adequate and able to differentiate between asthmatics and controls. Adolescents answered the questionnaire appropriately, however the results suggest that adolescents' parents or guardians underestimate asthma symptoms which interfere little with the adolescent's daily activities. 相似文献
148.
Silvana Sdao Davide Orlandi Alberto Aliprandi Francesca Lacelli Luca Maria Sconfienza Filippo Randelli Francesco Sardanelli Giovanni Serafini 《Journal of Ultrasound》2015,18(3):245-250
Purpose
Total hip arthroplasty (THA) is a widespread option for treating hip osteoarthritis. Peri-prosthetic complications after THA represent a common event influencing patient outcome and costs. The purpose of this paper is to report the use of ultrasonography (US) to detect peri-prosthetic complications in symptomatic patients who underwent THA.Methods
We retrospectively reviewed the records of patients with THA who underwent imaging evaluation between January 2009 and December 2012 at two different institutions. We evaluated the presence/absence of superficial and/or deep peri-prosthetic collections as well as the presence/absence of a cutaneous sinus tract. For patients who underwent both MRI and US, a concordance correlation analysis between US and MR findings was performed.Results
In the reference period, 532 symptomatic patients (mean age ± standard deviation 74 ± 12 years) underwent X-ray and MRI examinations for suspected peri-prosthetic complications. Among them, 111 (20.9 %) underwent also US. Overall, 108 patients underwent both US and MRI. US findings included 67 superficial collections, 48 subcutaneous fistulas, 74 deep peri-prosthetic collections. Twenty-four patients had solid, mass-like peri-prosthetic collections. In 11 patients, no peri-prosthetic complications were seen. MRI findings included 68 superficial collections, 49 subcutaneous fistulas, 79 deep peri-prosthetic collections. Twenty-four patients had solid, mass-like peri-prosthetic collections. In four patients, no peri-prosthetic complications were seen. Concordance analysis between US and MRI findings showed almost perfect agreement (k ≥ 0.89).Conclusion
US is an efficient and practical imaging modality to evaluate peri-prosthetic complications in patients with THA, being almost comparable to MRI in detecting and characterizing these complications. 相似文献149.
John H. Grose Silvana Griz Fernando A. Pacífico Karina P. Advíncula Denise C. Menezes 《International journal of audiology》2015,54(4):274-281
Objective: The Brazilian-Portuguese hearing in noise test (HINT) was used to investigate the benefit to speech recognition of listening in a fluctuating background. The goal was to determine whether modulation masking release varied as a function of the speech-to-masker ratio at threshold. Speech-to-masker ratio at threshold was manipulated using the novel approach of adjusting the time-compression of the speech. Design: Experiment 1 measured performance-intensity functions in both a steady speech-shaped noise masker and a 10-Hz square-wave modulated masker. Experiment 2 measured speech-to-masker ratios at threshold as a function of time-compression of the speech (0, 33, and 50%) in both maskers. Study sample: Participants were normal-hearing adults who were native speakers of Brazilian Portuguese (Experiment 1: N = 10; Experiment 2: N = 30). Results: The slope of the performance-intensity function was shallower in the modulated masker than in the steady masker for both words and sentences. Thresholds increased with increasing time-compression in both maskers, but more markedly in the modulated masker, resulting in reduced modulation masking release with increasing time-compression. Conclusions: Speech-to-masker ratio at threshold varies with time-compression of speech. The results are relevant to the issue of whether degree of masker modulation benefit depends on speech-to-masker ratio at threshold. 相似文献
150.
Carlos Alberto Nigro Eduardo Dibur Eduardo Borsini Silvana Malnis Glenda Ernst Ignacio Bledel Sergio González Anabella Arce Facundo Nogueira 《Sleep & breathing》2018,22(3):683-693