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Filomena Napolitano Valentina Di Iorio Giuseppe Di Iorio Mariarosa Anna Beatrice Melone Fernando Gianfrancesco Francesca Simonelli 《Ophthalmic genetics》2019,40(1):39-42
Background: Extracellular matrix molecular components, previously linked to multisystem syndromes include collagens, fibrillins and laminins. Recently, we described a novel multisystem syndrome caused by the c.9418G>A p.(V3140M) mutation in the laminin alpha-5 (LAMA5) gene, which affects connective tissues of all organs and apparatus in a three generation family. In the same family, we have also reported a myopic trait, which, however, was linked to the Prolyl 4-hydroxylase subunit alpha-2 (P4HA2) gene. Results of investigation on vitreous changes and their pathogenesis are reported in the present study.Materials and Methods: Nineteen family individuals underwent complete ophthalmic examination including best-corrected visual acuity (BCVA), fundus examination, fundus photography, intraocular pressure measurement, axial length measurement using ocular biometry, Goldmann visual field examination, standard electroretinogram, SD-OCT. Segregation analysis of LAMA5 and P4HA2 mutations was performed in enrolled members.Results: The vitreous alterations fully segregated with LAMA5 mutation in both young and adult family members. Slight reduction of retinal thickness and peripheral retinal degeneration in only two patients were reported.Conclusions: In this work we showed that PVD is a common trait of LAMA5 multisystem syndrome, therefore occurring as an age-unrelated trait. We hypothesize that the p.(V3140M) mutation results in a reduction of retinal inner limiting membrane (ILM) stability, leading to a derangement in the macromolecular structure of the vitreous gel, and PVD. Further investigations will be necessary to elucidate the role of wild type and mutated LAMA5 in the pathogenesis of PVD. 相似文献
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MEMRI and tumors: a method for the evaluation of the contribution of Mn(II) ions in the extracellular compartment
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Eliana Gianolio Francesca Arena Enza Di Gregorio Roberto Pagliarin Martina Delbianco Gabriella Baio Silvio Aime 《NMR in biomedicine》2015,28(9):1104-1110
The purpose of the work was to set‐up a simple method to evaluate the contribution of Mn2+ ions in the intra‐ and extracellular tumor compartments in a MEMRI experiment. This task has been tackled by “silencing” the relaxation enhancement arising from Mn2+ ions in the extracellular space. In vitro relaxometric measurements allowed assessment of the sequestering activity of DO2A (1,4,7,10‐tetraazacyclododecane‐1,7‐diacetic acid) towards Mn2+ ions, as the addition of Ca‐DO2A to a solution of MnCl2 causes a drop of relaxivity upon the formation of the highly stable and low‐relaxivity Mn‐DO2A. It has been proved that the sequestering ability of DO2A towards Mn2+ ions is also fully effective in the presence of serum albumin. Moreover, it has been shown that Mn‐DO2A does not enter cell membranes, nor does the presence of Ca‐DO2A in the extracellular space prompt migration of Mn ions from the intracellular compartment. On this basis the in vivo, instantaneous, drop in SE% (percent signal enhancement) in T1‐weighted images is taken as evidence of the sequestration of extracellular Mn2+ ions upon addition of Ca‐DO2A. By applying the method to B16F10 tumor bearing mice, T1 decrease is readily detected in the tumor region, whereas a negligible change in SE% is observed in kidneys, liver and muscle. The relaxometric MRI results have been validated by ICP‐MS measurements. Copyright © 2015 John Wiley & Sons, Ltd. 相似文献
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Marco Maruzzo Umberto Basso Eugenio Borsatti Laura Evangelista Filippo Alongi Orazio Caffo Francesca Maines Sara Galuppo Rocco De Vivo Fable Zustovich Dario Palleschi Andrea Zivi Teodoro Sava Mariella Sorarù Roberto Iacovelli Maurizio Nicodemo Susanne Baier Lucia Fratino Vittorina Zagonel 《Clinical genitourinary cancer》2019,17(1):e187-e194
Background
Radium 223 was introduced for metastatic castration-resistant prostate cancer based on the results of a randomized controlled trial showing risk reduction for death and skeletal events. Our aim was to evaluate the outcome of patients receiving radium 223 in a real-world setting.Patients and Methods
We conducted a multicenter retrospective analysis in the Triveneto region of Italy.Results
One hundred fifty-eight patients received radium 223 in our region. After a median follow-up of 9.5 months, 75 patients died. The median overall survival (OS) was 14.2 months, and the median progression-free survival (PFS) was 6.2 months. Seventy-one (45%) patients achieved progression as best response. Thirty-seven (23%) patients stopped the treatment early because of progression. Eastern Cooperative Oncology Group performance status was prognostic for OS (18.4 vs. 12.3 vs. 7.5 months; 0 vs. 1, P = .0062; 0 vs. 2, P = .0002), whereas previous prostatectomy or docetaxel exposure were not. A neutrophil to lymphocytes ratio ≥ 3 significantly impacted OS (18.1 vs. 9.7 months; P < .001) and slightly impacted PFS (6.6 vs. 5.6 months; P = .05). Patients with a baseline alkaline phosphatase (ALP) value ≥ 220 U/L had worse OS and PFS (24.1 vs. 10.5 months; 7.2 vs. 5.5 months; P < .001). Patients with changes in ALP value achieved better OS (P = .029) and PFS (P = .002). There was no difference according to the line of therapy (0 vs. ≥ 1; P = .490). The main grade 3/4 toxicities were anemia, asthenia, and thrombocytopenia.Conclusion
This large real-world report confirms comparable OS and PFS data when compared with the pivotal study, as well as the predictive role of ALP and neutrophil to lymphocytes ratio. The definition of the optimal position of radium 223 in the treatment of metastatic castration-resistant prostate cancer has still to be defined. 相似文献7.
Lung cancer is the leading cause of cancer deaths in both men and women in the United States. Treatment depends on the type and stage of lung cancer. For stage I and II cancer, surgery is usually the treatment of choice. Radiation therapy is used in patients who are considered poor risks for surgical resection. Intraoperative brachytherapy is an effective alternative to external irradiation in this group of patients. From 1958 to 1984, 55 patients with non-small-cell lung cancer were explored at Memorial Sloan Kettering Cancer Center and found to have surgical stage I or II tumors, which were considered to be unresectable mainly because of severe obstructive pulmonary disease precluding adequate resection. All these patients were treated with intraoperative brachytherapy at the time of the thoracotomy. Forty-four percent of these patients received in addition external irradiation, mainly to the mediastinum. The overall 5-year survival calculated by the Kaplan-Meier Method was 32%, and the local disease-free survival was 63%. Cox regression multivariant analysis demonstrated that there is a distinct subgroup with a better prognosis based on tumor site and patient's age--ie, patients who were younger than 58 years of age and had right-side lesions. 相似文献
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Summary Seventy-four cases of tuberculosis of the upper limb joints (sterno-clavicular 1; shoulder 12; elbow 42; wrist 10 and fingers 9), treated by two of the authors, were reviewed. Eighty-seven percent presented at an advanced stage of destruction. The diagnosis was proved in 71 out of 74 cases. In most, the treatment was 6–12 months of chemotherapy, plaster immobilization (in order to prevent or correct deformity) and functional rehabilitation whenever possible. The sterno-clavicular and finger joints were not immobilized. Response to chemotherapy was favourable in 66 of the patients followed up. One relapse occurred at the 18th month.The affected shoulder joints healed with loss of movement, but were not painful. At the elbow, ten patients developed spontaneous bony fusion in the right-angle position, 27 had a useful range of motion and 19 had more than 70° of flexion-extension movement. One patient had an arthrodesis. At the wrist, two patients healed with painful stiffness and an arthrodesis was performed. All the finger lesions healed with painless stiffness which did not interfere much with function because rehabilitation had been started early. The authors believe that conservative management usually gives better results than arthrodesis or excision of the joint.
Résumé Les auteurs rapportent les résultats de leur expérience dans 74 cas d'ostéo-arthrite tuberculeuse du membre supérieur: 1 sterno-claviculaire, 12 scapulo-humérales, 42 coudes, 10 poignets et 9 articulations des doigts, toutes traitées personnellement par les deux auteurs principaux. Sur le plan diagnostique, 87% des patients se présentaient à un stade de destruction avancée. Le diagnostic de certitude fut obtenu dans 71 cas sur 74. Dans la majorité des cas, le traitement a été standardisé: chimiothérapie de 6 à 12 mois, immobilisation plâtrée pour prévenir ou corriger les déformations, suivie de reéducation chaque fois que possible. Les lésions de la sterno-claviculaire et des doigts ne furent pas immobilisées. Les résultats ont été bons en ce qui concerne la chimiothérapie: 66 réponses favorables chez 66 patients suivis. Il y a eu une rechute au 18éme mois. Du point de vue orthopédique, les lésions scapulo-humérales ont guéri avec une raideur de l'épaule toujours importante mais indolore. Au niveau du coude, 10 patients évoluèrent vers la fusion osseuse précoce spontanée, qui se fit à 90° de flexion grâce à l'immobilisation plâtrée; 27 guérirent avec une conservation variable des mouvements du coude dans un secteur fonctionnel et 19 d'entre eux présentaient plus de 70° d'étendue de flexion; 1 patient fut arthrodésé. Au niveau du poignet, 2 patients guérirent avec une raideur douloureuse qui nécessita une arthrodèse. Les lésions des doigts guérirent avec une raideur plus ou moins marquée, bien compensée par la mobilité des autres articulations, conservée intacte par la reéducation. Les auteurs concluent à la meilleure qualité des résultats du traitement conservateur que des classiques interventions d'arthrodèse ou de résection articulaire.相似文献
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Augmentation technique with semitendinosus and gracilis tendons in chronic partial lesions of the ACL: clinical and arthrometric analysis 总被引:1,自引:0,他引:1
Roberto Buda Alberto Ferruzzi Francesca Vannini Lisa Zambelli Francesco Di Caprio 《Knee surgery, sports traumatology, arthroscopy》2006,14(11):1101-1107
Most of the techniques described in the literature for the repair of chronic partial ACL tears, don’t spare the intact portion of the ligament. The aim of this study was to perform a prospective analysis of the results of augmentation surgery using gracilis and semitendinosus tendons to treat partial sub-acute lesions of the ACL. This technique involves an “over the top” femoral passage, which enables salvage and strengthening of the intact portion of the ACL. The study included 47 patients treated consecutively at our institute from 1993 to 1998, with a mean injury-surgery interval of 18 weeks (range 12–36). The patients were followed up by clinical and instrumental assessment criteria at 3 months, 1 and 5 years after surgery. Clinical assessment was performed using the IKDC form. Subjective and functional parameters were assessed by the Tegner activity scale. Instrumental evaluation was done using the KT-2000 instrument: the 30-pound passive test and the manual maximum displacement test were performed. We obtained good or excellent results in 95.7% of cases. No recurrences in ligamentous laxity were observed. We believe that the described technique has the advantage of being compatible with ACL anatomy, and enables very rapid functional recovery. 相似文献
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