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1.
Eur J Ophthalmol ; : 11206721231212823, 2023 Nov 05.
Artigo em Inglês | MEDLINE | ID: mdl-37926976

RESUMO

BACKGROUND: To evaluate the correlations between anatomical and functional changes after idiopathic epiretinal membrane (iERM) surgery. METHODS: In this prospective, observational, single-center study, consecutive patients who underwent iERM peeling were enrolled. Reported data were pre- and postoperative best-corrected visual acuity (BCVA), retinal sensitivity (RS) and fixation stability values on microperimetry, structural macular features on SD-OCT and OCTA. RS of foveal and parafoveal area was analysed and two sub-groups were identified whether RS improved or remained unchanged/worsened after surgery; consequently, vascular perfusion density (VPD) of the same area was studied. RESULTS: Twenty-nine eyes of 29 patients were examined. The post-operative improvement in terms of BCVA, RS and fixation within the central 4 degrees was significant (p < 0.001, p < 0.001, p = 0.001), as well as the foveal thickness and macular volume change/reduction (p < 0.001). The pre-operative superficial VPD, choriocapillaris VPD and capillary free zone (CFZ) area were significantly reduced compared to the fellow healthy eye (p = 0.001, p = 0.02, p < 0.001). Choriocapillaris VPD showed a statistically significant increase after surgery (p < 0.02). Superficial, deep and choriocapillaris VPD of the improved RS group showed a significant increase both in foveal (p = 0.03, p = 0.03, p = 0.01) and parafoveal areas (p = 0.01, p = 0.03, p = 0.001). CONCLUSIONS: We reported a higher VPD in the retinal area that experienced a retinal sensitivity improvement 6 months after ERM surgery. This result objectifies the tight bond between visual function and retinal perfusion in ERM patients.

2.
Eur J Ophthalmol ; 33(4): NP46-NP50, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35957600

RESUMO

PURPOSE AND CONTEXT: We report two cases of optic neuritis following Pfizer-BioNTech COVID-19 vaccination in patients with autoimmune diseases. Post-vaccine optic neuritis, although rare, is reported in the literature and an autoimmune mechanism seems to be involved, especially in genetically predisposed subjects. METHOD: Report of two cases of optic neuritis following COVID-19 vaccination in patients with autoimmune diseases. KEY RESULTS: He novelty of this article is the fact that the two patients had a medical history of autoimmune diseases (Hashimoto thyroiditis and ankylosing spondylitis), a point of interest for research because it is not yet clear whether this could constitute a risk factor for adverse events after vaccination. CONCLUSIONS: The reactogenicity of COVID-19 mRNA vaccine in individuals suffering from immune-mediated diseases is yet to be elucidated and it is being increasingly investigated. Our paper supports the hypothesis that patients who are already affected or predisposed to autoimmune or autoinflammatory disorders should be carefully evaluated for the benefits and risks of COVID-19 mRNA vaccination.


Assuntos
Doenças Autoimunes , Vacinas contra COVID-19 , COVID-19 , Neurite Óptica , Humanos , Masculino , Doenças Autoimunes/complicações , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Neurite Óptica/etiologia , Vacinação/efeitos adversos
4.
Artigo em Inglês | MEDLINE | ID: mdl-35270348

RESUMO

(1) Background: Parkinson's Disease (PD) is one of the most common causes of disability among older individuals. The advanced stages of PD are usually characterized by postural instability and, as a consequence, falls. Those are among the main factors that determine the quality of life, as well as the morbidity and mortality of a person with PD. In the field of PD rehabilitation, robotics is also rapidly gaining ground. As a primary aim, we evaluate the acceptability of the technology integrated intervention, using the Psychosocial Impact of Assistive Devices Scale (PIADS), in order to analyze the attitude of the participants towards the Tymo® system. As a secondary outcome, we assess the result of the rehabilitation treatment integrated with the Tymo® system on several patient's features. (2) Methods: We studied a population of 16 patients with Parkinson's Disease. Each recruited subject completed 10 treatment sessions, organized as two training sessions per week, for 5 weeks. The intervention included 30 min of traditional therapy and 20 min of technological treatment with a robotic system. PIADS is composed of three subscales (Competence subscale, Adaptability subscale, Self-esteem subscale) ranging from -3 to +3, reflecting, respectively, a negative or positive feeling towards the device. (3) Results: The Competence subscale, measuring feelings of competence and usefulness, obtained a score of 1.24 (SD = 0.78). The score of Adaptability subscale, indicating a willingness to try out new things and to take risks, was 1.83 (SD = 0.65). Finally, the Self-esteem subscale, indicating feelings of emotional health and happiness, reached a score of 1.31 (SD = 0.72). Moreover, statistical analysis reveals a significant effect on balance performance after intervention. (4) Conclusions: This feasibility study represents a starting point in the use of technology in the rehabilitation pathway of patients affected by Parkinson's Disease. In fact, our results suggest that a standard therapy combined with an innovative treatment using Tymo® may be accepted by PD patients, which may benefit especially from preserving balance.


Assuntos
Doença de Parkinson , Robótica , Tecnologia Assistiva , Terapia por Exercício/métodos , Estudos de Viabilidade , Marcha , Humanos , Doença de Parkinson/complicações , Equilíbrio Postural , Qualidade de Vida , Robótica/métodos
5.
Graefes Arch Clin Exp Ophthalmol ; 260(5): 1535-1542, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35067771

RESUMO

PURPOSE: To investigate the presence of pachychoroid spectrum disease (PSD) in patients with Cushing disease (CD) and to evaluate subfoveal choroidal thickness (SFCT) and choriocapillary flow using spectral domain OCT (SD-OCT) with the enhanced depth imaging (EDI) and optical coherence tomography angiography (OCT-A). METHODS: Thirty-two patients with CD and 32 age- and sex-matched healthy volunteers were enrolled in this observational study. All participants had a complete ophthalmic examination including SD-OCT with EDI and OCT-A, and were subjected to the Perceived Stress Scale test (PSS). All patients with CD had hormone test including 24-h urinary-free cortisol (UFC) and plasma adrenocorticotropic hormone (ACTH). We compared SFCT and choriocapillary vessel density (CVD) between the two groups and evaluated the presence of PSD. We investigated the association of hormone level, SFTC, CVD with the presence of CD; the association between the hormone level, SFTC, CVD, the CD disease activity, and duration with the presence of PSD in CD patients; and the association between SFTC and CVD with the hormone level, the CD disease activity, and duration in CD patients. RESULTS: Higher values of SFCT and CVD were associated with CD (ß: 0.028, 95% CI: 0.014; 0.041; ß: 0.912, 95%CI: 0.205; 1.62, respectively). Twelve patients with CD (37.5%) reported a PSD in at least one eye, whereas no subject was found in control group (p < 0.001); in particular, 11 CD patients (34%) presented pachychoroid pigment epitheliopathy (PPE) and 1 CD patient (3%) presented polypoidal choroidal vasculopathy/aneurysmal type 1 neovascularization (PCV/AT1). In patients with CD, a significant positive association between SFCT and PSD was found (ß: 0.010, 95% CI 0.001; 0.019). CONCLUSION: A chronic state of hypercortisolism may have direct implications on the choroid. Patients with CD had higher SFCT values and a significant change in the choriocapillary flow compared to healthy controls. Moreover, PSD was observed only in CD patients.


Assuntos
Hipersecreção Hipofisária de ACTH , Doenças Vasculares , Corioide/irrigação sanguínea , Angiofluoresceinografia/métodos , Hormônios , Humanos , Hipersecreção Hipofisária de ACTH/complicações , Hipersecreção Hipofisária de ACTH/diagnóstico , Estudos Retrospectivos , Tomografia de Coerência Óptica/métodos
6.
Eur J Ophthalmol ; 32(4): NP67-NP70, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33657895

RESUMO

INTRODUCTION: Incidental finding of mass lesion in the choroid represents a very challenging situation for the ophthalmologist. We describe a case of an incidental, computed tomography (CT)-hyperintense, choroidal lesion in a patient with parotid malignancy and renal failure, and how multimodal imaging helped us reaching the correct diagnosis. CASE DESCRIPTION: A 63-year-old man with parotid gland malignancy was brought to our attention because preoperative staging CT showed a hyperintense choroidal lesion of the right eye. Fundus examination showed a yellow elevated lesion near the superior temporal branch retinal artery. Enhanced depth imaging optical coherence tomography (EDI-OCT), A- and B-scan ultrasonography, and Indocyanine Green Angiography (ICGA) allowed us to exclude a malignant lesion and to diagnose a sclerochoroidal calcification. CONCLUSION: Multimodal imaging can guide the clinician to choose the appropriate therapeutic approach even in case of uncommon conditions like sclerochoroidal calcification.


Assuntos
Calcinose , Coristoma , Doenças da Coroide , Neoplasias Parotídeas , Doenças da Esclera , Calcinose/diagnóstico , Corioide , Doenças da Coroide/diagnóstico , Angiofluoresceinografia/métodos , Humanos , Achados Incidentais , Masculino , Pessoa de Meia-Idade , Doenças da Esclera/diagnóstico , Tomografia de Coerência Óptica/métodos
7.
Eur J Ophthalmol ; 32(5): NP20-NP23, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33938315

RESUMO

PURPOSE: To report our experience with a peculiar case of asynchronous bilateral retinal vascular occlusion in a patient suffering from membranoproliferative glomerulonephritis. CASE REPORT: A 57-year-old dialysed male affected by membranoproliferative glomerulonephritis who underwent kidney transplantation complained of a sudden vision loss in his right eye (RE). His best-corrected visual acuity (BCVA) was 20/40 in RE and 20/20 in the left eye (LE); ophthalmological and fluorangiographic examinations revealed unilateral retinal obliterative vasculitis with panuveitis and apparent sparing of contralateral eye. About 6 months later the patient developed a branch retinal vein occlusion associated with a papillary neovascular membrane in LE. Corticosteroid therapy was administered and immunosuppressant dosage was increased with macular oedema reduction in both events. CONCLUSION: We report a case of unilateral retinal obliterative vasculitis and subsequent contralateral retinal neovascularization and branch retinal vein occlusion in a patient affected by membranoproliferative glomerulonephritis.


Assuntos
Glomerulonefrite Membranoproliferativa , Edema Macular , Neovascularização Retiniana , Vasculite Retiniana , Oclusão da Veia Retiniana , Glomerulonefrite Membranoproliferativa/complicações , Glomerulonefrite Membranoproliferativa/diagnóstico , Glomerulonefrite Membranoproliferativa/tratamento farmacológico , Humanos , Edema Macular/diagnóstico , Edema Macular/tratamento farmacológico , Edema Macular/etiologia , Masculino , Pessoa de Meia-Idade , Vasculite Retiniana/diagnóstico , Vasculite Retiniana/tratamento farmacológico , Vasculite Retiniana/etiologia , Oclusão da Veia Retiniana/complicações , Oclusão da Veia Retiniana/diagnóstico , Oclusão da Veia Retiniana/tratamento farmacológico
8.
Eur J Ophthalmol ; 32(4): NP6-NP10, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34219492

RESUMO

PURPOSE: The purpose of this study is to report our experience with a case of punctate inner choroidopathy (PIC) reactivation following COVID-19. CASE REPORT: A 29-year-old caucasian woman with past ophthalmological history of bilateral PIC reported sudden visual acuity decrease in her right eye (RE) 3 weeks after SARS-CoV-2 infection. Her best-corrected visual acuity (BCVA) was 20/32 in RE; fundus examination and multimodal imaging (including indocyanine-green angiography, fundus autofluorescence, and optical coherence tomography) was consistent with unilateral PIC reactivation. The active choroidal lesions responded to high-dose corticosteroids, with functional improvement. CONCLUSION: Sars-CoV-2 infection could induce autoimmune and autoinflammatory dysregulation in genetically predisposed subjects. We report a case of PIC reactivation following COVID-19.


Assuntos
COVID-19 , Síndrome dos Pontos Brancos , Adulto , Corioide/patologia , Feminino , Angiofluoresceinografia/métodos , Humanos , Estudos Retrospectivos , SARS-CoV-2 , Tomografia de Coerência Óptica/métodos
9.
Vision (Basel) ; 4(3)2020 Aug 13.
Artigo em Inglês | MEDLINE | ID: mdl-32823618

RESUMO

Silicone oil represents the main choice for intraocular tamponade in cases of complicated retinal detachment surgery. The intraocular pressure of an eye filled with silicone oil could increase, driven by a variety of different forces, according to several mechanisms. Two main conditions have been highlighted, depending on the onset: early hypertension or late glaucoma. The different types of silicone oils and their physico-chemical properties are varied and may play a role in the determination of intraocular pressure rise. The current body of literature allows for the illustration and categorization of the incidence and risk factors, as well as the pathogenesis and the management of the early postoperative hypertension subtended by an open- and closed-angle, along with the late onset silicone oil-induced glaucoma. Understanding the leading actors on the stage of ocular pressure elevation concurrently with silicone oil application for retinal surgery could help in guiding the timely and appropriate course of treatment.

10.
Vision (Basel) ; 4(3)2020 Aug 16.
Artigo em Inglês | MEDLINE | ID: mdl-32824320

RESUMO

The EX-PRESS glaucoma filtration device appears to be an effective addition to our options to treat refractory glaucoma. The possibility to create a sclerostomy without tissue excision provides a safe and reliable outflow pathway for aqueous that is standard in size, reducing much of the variability associated with a surgical procedure. Prospective randomized studies comparing EX-PRESS implantation with trabeculectomy show encouraging results. However, complications usually encountered in filtration surgery have been reported, and EX-PRESS implantation can also lead to specific device-related complications. This article reviews the most common complications associated with this procedure.

11.
J Clin Med ; 9(7)2020 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-32629878

RESUMO

BACKGROUND: Type 2 diabetes (T2D) is correlated to amnestic mild cognitive impairment (aMCI) and to non-amnestic mild cognitive impairment (naMCI). This study evaluated whether the T2D variable characterizes a peculiar cognitive profile in elderly patients. Moreover, it explores the association between glycated hemoglobin levels (HbA1c), T2D duration, insulin and oral hypoglycemic agent treatment, and cognition in elderly diabetic patients. METHODS: Detailed neuropsychological battery was used to diagnose MCI subtypes. A total of 39 MCI subjects with T2D (T2D-MCI) and 37 MCI subjects without T2D (ND-MCI), matched for age, educational level, and Mini-Mental State Examination score, were included. RESULTS: ND-MCI performed worse in memory and language domains than T2D-MCI. The amnestic subtype is more frequent among ND-MCI and non-amnestic subtype in T2D-MCI. In T2D-MCI, high HbA1c levels correlate with episodic memory (immediate recall) and T2D duration. Some indexes of episodic memory (immediate recall), attention, and visual-spatial ability correlate with insulin treatment. CONCLUSIONS: An association between T2D and non-amnestic MCI is suggested. In the T2D-MCI group, significant associations between insulin treatment and memory (immediate recall), complex figure copy, and attention were found.

12.
Photodiagnosis Photodyn Ther ; 31: 101895, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32599091

RESUMO

Dome-shaped macula (DSM) is characterized by an inward convexity of the macula in myopic eyes, as visualized on optical coherence tomography (OCT). Serous retinal detachment (SRD) is a common complication of DSM, leading to a deterioration of visual acuity, in association with retinal pigment epithelium (RPE) atrophic changes. Many different therapeutic approaches to SRD secondary to DSM have been attempted, with variable results. We report our experience (11 treatment-naïve patients) with a combined new treatment approach, using half-fluence and half-dose photodynamic therapy (PDT) followed by subthreshold 577 nm micropulse laser treatment (STLT), for SRD related to DSM after a 6-month follow-up. Central foveal thickness was significantly decreased at the end of the follow-up. SRD diminished in all cases, and 5 eyes (45.4 %) registered complete resolution at the end of the 6-month follow-up, while 6 eyes (54.5 %) experienced two lines of improvement in BCVA at the end of the follow-up. No case showed postoperative complications. Therefore, this represents the first study evaluating the visual and anatomical outcomes of a safe and effective combined treatment of SRD in DSM.


Assuntos
Fotoquimioterapia , Descolamento Retiniano , Angiofluoresceinografia , Seguimentos , Humanos , Lasers , Fotoquimioterapia/métodos , Fármacos Fotossensibilizantes/uso terapêutico , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/terapia , Estudos Retrospectivos , Tomografia de Coerência Óptica
13.
Graefes Arch Clin Exp Ophthalmol ; 258(8): 1655-1662, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32363499

RESUMO

PURPOSE: To evaluate the correlations between anatomical and functional changes in idiopathic macular hole (IMH) surgery in long-term follow-up. METHODS: This is a prospective, interventional single centre case series. The final sample is formed by 14 eyes of 14 patients who had undergone IMH surgery in our institution between 2005 and 2009 and were still followed up in 2019. Reported data were pre- and post-operative best-corrected visual acuity (BCVA), retinal sensitivity and fixation stability values on MP-1 and structural macular features on spectral domain optical coherence tomography. Optical coherence tomography angiography (OCTA) was utilized to assess microvascular characteristics at the final visit. Only patients with a successful MH closure were enrolled, excluding eyes affected by other relevant pathologies. RESULTS: Mean BCVA improvement was significant after surgery (t test, p value < 0.001) and presented a slight, not statistically significant raise, between the post-operative and long-term follow-up. Differently, mean retinal sensibility (dB) showed a highly statistically significant difference between pre-operative and post-operative (t test, p value = .002) and post-operative and last follow-up (p value < 0.001). In the long-term follow-up, subjects having integrity of the inner segment/outer segment (IS/OS) layer showed no statistically significant difference in BCVA compared with subjects with IS/OS discontinuity (t test, p value = 0.72). OCTA parameters of the operated eye showed no statistical significance compared with the fellow eye. CONCLUSIONS: In successfully closed MHs, retinal sensibility measured by microperimetry significatively increases after a long follow-up period even when BCVA remains stable or raises slightly. Vessel density organization tends to be quantitatively similar to fellow eye several years after surgery.


Assuntos
Angiofluoresceinografia/métodos , Previsões , Fóvea Central/patologia , Perfurações Retinianas/cirurgia , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Vitrectomia/métodos , Idoso , Feminino , Seguimentos , Fóvea Central/fisiopatologia , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Período Pós-Operatório , Estudos Prospectivos , Perfurações Retinianas/diagnóstico , Campos Visuais/fisiologia
14.
J Clin Med ; 9(2)2020 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-32069898

RESUMO

Background: Non-infectious uveitis represents a leading cause of visual impairment, and inflammation control represents a major priority in tackling visual acuity loss due to complications such as macular edema; different immunomodulatory drugs are currently being used, including anti-TNF-alpha Adalimumab. Methods: This was a monocentric observational study of 18 eyes of 18 patients with non-infectious uveitis treated with Adalimumab. The primary endpoint was the control of ocular inflammation. The secondary endpoints included the study of macular and choroidal thickness and architecture, visual acuity, changes in other treatments, and adverse effects. Results: Ocular inflammation was controlled at 12 months for 83.3% of patients. Central macular thickness improved from a median of 229.75 µm at baseline to 213 µm at 12 months, while choroidal thickness decreased by 11.54% at the end of the follow-up. A reduction of vasculitis on fluorescein angiography and of hyperreflective spots on optical coherence tomography was noted. Visual acuity also improved from 0.51 (logMAR) before treatment to 0.24 at more than 12 months (p = 0.01). A total of 11.1% of patients experienced side effects. Conclusion: Our study confirms the efficacy of adalimumab for the control of ocular inflammation, visual acuity preservation, and for corticosteroid sparing.

15.
J Clin Med ; 8(11)2019 Nov 05.
Artigo em Inglês | MEDLINE | ID: mdl-31694337

RESUMO

: Objective: the objective of this review is to analyze the advances in the field of rehabilitation through virtual reality, while taking into account non-immersive systems, as evidence have them shown to be highly accepted by older people, due to the lowest "cibersikness" symptomatology. DATA SOURCES: a systematic review of the literature was conducted in June 2019. The data were collected from Cochrane, Embase, Scopus, and PubMed databases, analyzing manuscripts and articles of the last 10 years. STUDY SELECTION: we only included randomized controlled trials written in English aimed to study the use of the virtual reality in rehabilitation. We selected 10 studies, which were characterized by clinical heterogeneity. DATA EXTRACTION: quality evaluation was performed based on the Physioterapy Evidence Database (PEDro) scale, suggested for evidence based review of stroke rehabilitation. Of 10 studies considered, eight were randomized controlled trials and the PEDro score ranged from four to a maximum of nine. DATA SYNTHESIS: VR (Virtual Reality) creates artificial environments with the possibility of a patient interaction. This kind of experience leads to the development of cognitive and motor abilities, which usually positively affect the emotional state of the patient, increasing collaboration and compliance. Some recent studies have suggested that rehabilitation treatment interventions might be useful and effective in treating motor and cognitive symptoms in different neurological disorders, including traumatic brain injury, multiple sclerosis, and progressive supranuclear palsy. CONCLUSIONS: as it is shown by the numerous studies in the field, the application of VR has a positive impact on the rehabilitation of the most predominant geriatric syndromes. The level of realism of the virtual stimuli seems to have a crucial role in the training of cognitive abilities. Future research needs to improve study design by including larger samples, longitudinal designs, long term follow-ups, and different outcome measures, including functional and quality of life indexes, to better evaluate the clinical impact of this promising technology in healthy old subjects and in neurological patients.

16.
J Clin Med ; 8(9)2019 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-31492008

RESUMO

BACKGROUND: Syphilis, tuberculosis and toxoplasmosis are major infectious diseases worldwide; all of them are multisystem pathologies and share a possible ocular involvement. In this context, a fundamental help for the definitive diagnosis is provided by the ophthalmologist, through clinical evaluation and with the aid of a multimodal imaging examination. METHODS: We hereby describe selected cases who came to our attention and were visited in our eye clinic. In all clinics, the use of retinal and optic disc multimodal imaging during ophthalmological evaluation allowed to make a diagnosis of an infectious disease. RESULTS: In our tertiary referral center more than 60 patients with syphilis, tuberculosis and toxoplasmosis have been evaluated in the last two years: In 60% of cases the ophthalmological evaluation was secondary to a previous diagnosis of an infectious disease, while in the remaining cases the ophthalmologist, with the help of a multimodal imaging examination and clinical evaluation, represented the physician who leads to the diagnosis. CONCLUSION: Our results confirm how in these life-threatening pathologies a prompt diagnosis is mandatory and may benefit from a multidisciplinary and multimodal imaging approach, especially during ophthalmological evaluation.

17.
Jpn J Ophthalmol ; 63(3): 255-261, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30805734

RESUMO

PURPOSE: To evaluate the changes in anterior chamber flare after a single intravitreal injection of ocriplasmin (125 µg), in patients with symptomatic vitreomacular traction syndrome (VMT). STUDY DESIGN: An institutional review board-approved single-center not randomized prospective study. METHODS: Fifteen eyes of fifteen patients (9 women, 6 men) underwent intravitreal injection with ocriplasmin for symptomatic VMT (width of attachment ≤ 1500 µm). Anterior segment flare was measured with a laser flare meter (Kowa) before intravitreal injection and 1 day, 1 week, 1 month after injection. The changes in flare were analyzed; the resolution of VMT was evaluated with spectral-domain OCT. RESULTS: The mean anterior chamber flare was 10.5 ± 1.9 photons per millisecond (photons/ms) before the injection. After 1 day it increased to 13.6 ± 2.7 photons/ms (p = 0.027) and after 1 week to 14.4 ± 2.5 photons/ms (p = 0.005); after 1 month it decreased to 12.3 ± 2.3 photons/ms (p = 0.123). At 1 day and 1 week after injection, mean anterior chamber flare of fellow eyes was significantly lower than study eyes, while at 1 month this difference was not significant (12.3 ± 2.3 vs. 10.5 ± 1.8 photons/ms, p = 0.124, for study and fellow eyes). There was no statistically significant difference in the changes in flare between women and men or between phakic (N = 10) and pseudophakic (N = 5) eyes. No eye demonstrated intraretinal damage at any time-point. Also, 9 eyes showed resolution of VMT while 6 eyes demonstrated persistence of VMT. CONCLUSION: Our study shows that intravitreal injection of ocriplasmin can be a safe and effective approach to treat symptomatic VMT syndrome in selected patients.


Assuntos
Segmento Anterior do Olho/patologia , Fibrinolisina/administração & dosagem , Fragmentos de Peptídeos/administração & dosagem , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Corpo Vítreo/patologia , Descolamento do Vítreo/tratamento farmacológico , Idoso , Progressão da Doença , Feminino , Seguimentos , Humanos , Injeções Intravítreas , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Síndrome , Descolamento do Vítreo/diagnóstico
18.
Neurobiol Aging ; 38: 215.e1-215.e12, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26652843

RESUMO

GRN, the gene coding for the progranulin (PGRN) protein, was recognized as a gene linked to frontotemporal lobar degeneration (FTLD). The first mutations identified were null mutations giving rise to haploinsufficiency. Missense mutations were subsequently detected, but only a small subset has been functionally investigated. We identified missense mutations (C105Y, A199V, and R298H) in FTLD cases with family history and/or with low plasma PGRN levels. The aim of this study was to determine their pathogenicity. We performed functional studies, analyzing PGRN expression, secretion, and cleavage by elastase. GRN C105Y affected both secretion and elastase cleavage, likely representing a pathogenic mutation. GRN A199V did not alter the physiological properties of PGRN and GRN R298H produced only moderate effects on PGRN secretion, indicating that their pathogenicity is uncertain. In the absence of strong segregation data and neuropathological examinations, genetic, biomarker, and functional studies can be applied to an algorithm to assess the likelihood of pathogenicity for a mutation. This information can improve our understanding of the complex mechanisms by which GRN mutations lead to FTLD.


Assuntos
Degeneração Lobar Frontotemporal/genética , Estudos de Associação Genética , Peptídeos e Proteínas de Sinalização Intercelular/genética , Mutação de Sentido Incorreto/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Celobiose/análogos & derivados , Estudos de Coortes , Feminino , Degeneração Lobar Frontotemporal/patologia , Dosagem de Genes , Células HEK293 , Humanos , Peptídeos e Proteínas de Sinalização Intercelular/análise , Pessoa de Meia-Idade , Progranulinas
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