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Presentazione atipica di neuropatia ottica di leber
No full textPresentazione atipica di neuropatia ottica di leber
Di Maggio C 1
, Nardecchia F 1
, Carrozzo R 3
, Pucci C1
, Mattiucci C4
, Varrasso G 4
, De Negri A 2
,
Plateroti R 5
, Torraco A 3
, Bertini E 3
, Leuzzi V 1
, Moramarco A 5
1DAI Neurosc e Sal Ment, Univ Sapienza, Roma, 2UOC Oculistica, Osp San Cam Forl, Roma, 3Un
Mal Musc e Neurodeg, OPBG, Roma, 4DAI Mat Infant e Sc Urol, Univ Sapienza, Roma, 5DAI Testa
Collo, Oftalm, Univ Sapienza, Roma
INTRODUZIONE/BACKGROUND: La neuropatia ottica ereditaria di Leber (LHON) è una
malattia mitocondriale a trasmissione matrilineare, a penetranza incompleta e insorgenza tra i 15 e i
35 anni, caratterizzata da deficit binoculare del visus, acuto/subacuto, simultaneo o sequenziale.
L’esordio in età infantile è raro.
METODI / PAZIENTI: Segnaliamo un bambino di 12 anni che ha manifestato in pieno benessere
un deficit acuto del visus (OD 4/10, OS 6/10) e concomitante congiuntivite di ndd.Nonna e cugino
sulla linea materna con pregressa neuropatia ottica di ndd, in un caso regredita spontaneamente. Il
bambino ha sofferto di epilessia idiopatica, in remissione dall’età di 11 anni. L’esame neurooftalmologico all’esordio mostrava assenza di deficit pupillare afferente; FOO: papille ottiche
diffusamente rilevate, teleangectasie presenti tra le fibre ispessite, vasi venosi congesti, piccole
emorragie lungo le fibre del polo superiore (OD) e al polo infero-temporale (OS). Ishihara alterato.
Scotoma centrocecale bilateralmente. OCT: ispessimento dello strato delle fibre nervose e del nervo
ottico bilateralmente, riduzione dello strato delle cellule ganglionari asimmetrico (OD>OS).
Fluorangiografia: tenue diffusione papillare nelle fasi tardive, modesto turgore diffuso dei vasi
venosi, papilla ottica a margini sfumati, congestione dei grossi vasi, rete capillare accentuata ed
ectasica. PEV Pattern: latenza aumentata, in OD a basse frequenze, in OS a medie frequenze. Nella
norma: RMN encefalo (mdc), PEV Flash, ERG, CSF (pressione liquorale, esame chimico-fisico, Ab
antiacquaporina4 e anti-MOG), sierologia per EBV, CMV, HSV1-2, Morbillo, VZV, Borrelia.
RISULTATI: La diagnosi è stata effettuata mediante sequenziamento con metodo Sanger che ha
evidenziato la mutazione T14484C nel gene MT-ND6 in omoplasmia.
DISCUSSIONE: Questo caso è peculiare per la presentazione atipica con un(o) (pseudo)edema
papillare che può essere causa di ritardo diagnostico e terapeutico
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
VEGF inhibition alters neurotrophin signalling pathways and induces caspase-3 activation and autophagy in rabbit retina
No full textThis study sought to evaluate the prospective role exerted by vascular endothelial growth factor (VEGF) in the modulation of nerve growth factor (NGF) and brain-derived neurotrophic factor (BDNF) signalling pathways in the rabbit retina. To reach this aim, the anti-VEGF agents aflibercept and ranibizumab were used as a pharmacological approach to evaluate the putative consequences elicited by VEGF inhibition on neurotrophin signalling. VEGF inhibition determined a marked imbalance in proneurotrophin expression, a significant reduction in TrkA and TrkB phosphorylation states and a decrease in the pan-neurotrophin receptor p75. Importantly, VEGF blockade also caused a strong increase in cleaved caspase-3, beclin-1 and lipidated LC3. The effects were more pronounced in the aflibercept group when compared with ranibizumab-treated rabbits, particularly 1 week after injection. This study demonstrates that VEGF exerts pivotal physiological roles in regulating NGF and BDNF pathways in the retina, as its inhibition by anti-VEGF agents deeply impacts neurotrophin homeostasis. These events are accompanied by a sustained induction of apoptotic and autophagic markers, suggesting that anti-VEGF-dependent impairments in neurotrophin signalling could be responsible for the activation of retinal cell death pathways
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Understanding drivers of ocular fibrosis: current and future therapeutic perspectives
Full text linkOcular fibrosis leads to severe visual impairment and blindness worldwide, being a major area of unmet need in ophthalmology and medicine. To date, the only available treatments are antimetabolite drugs that have significant potentially blinding side effects, such as tissue damage and infection. There is thus an urgent need to identify novel targets to prevent/treat scarring and postsurgical fibrosis in the eye. In this review, the latest progress in biological mechanisms underlying ocular fibrosis are discussed. We also summarize the current knowledge on preclinical studies based on viral and non‐viral gene therapy, as well as chemical inhibitors, for targeting TGFβ or downstream effectors in fibrotic disorders of the eye. Moreover, the role of angiogenetic and biomechanical factors in ocular fibrosis is discussed, focusing on related preclinical treatment approaches. Moreover, we describe available evidence on clinical studies investigating the use of therapies targeting TGFβ‐dependent pathways, angiogenetic factors, and biomechanical factors, alone or in combination with other strategies, in ocular tissue fibrosis. Finally, the recent progress in cell‐based therapies for treating fibrotic eye disorders is discussed. The increasing knowledge of these disorders in the eye and the promising results from testing of novel targeted therapies could offer viable perspectives for translation into clinical use
Ten-year outcomes of intravitreal bevacizumab for myopic choroidal neovascularization: analysis of prognostic factors
Full text linkThe current standard treatment of myopic choroidal neovascularisation (mCNV) is in-travitreal injection of VEGF antagonists. This study was proposed to assess efficacy and safety of intravitreal bevacizumab (IVB) for the treatment of mCNV across a 10-year follow-up. Thirty eyes of thirty patients with treatment-naïve mCNV who underwent IVB and were followed up with for a minimum of ten years were recruited for the present retrospective cohort study. All participants were treated with three monthly IVB at baseline and then evaluated and treated under pro re nata (PRN) schedule. Outcome measures were to determine BCVA changes over years and identify the predictive factors of both final visual outcome and need for retreatment. Analysis of the main involved prognostic factors with correlations among variables is reported. Visual acuity remained stable at 10-year follow-up (p = 0.001) with the greatest improvement at 2 years (p < 0.0001) in all CNV locations. Baseline BCVA correlated positively with final BCVA (β = 0.88, p < 0.0001, R2: 0.75). No predictive factors for the need of additional injections were identified. Retinal and choroidal thickness significantly reduced over time but without correlation with the number of injections. CNV max height and area significantly decreased at 10 years (p < 0.0001 and p = 0.003, respectively), with complete regression of mCNV lesion in 40% of subjects. Intravitreal bevacizumab resulted as long-term effective and safe therapy for mCNV with sustained results at 10 years
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