LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 352

Search options

  1. Article ; Online: Multimodal Imaging of a novel MFSD8/CLN7 mutation associated with non-syndromic symmetric adult-onset macular dystrophy.

    Gelormini, Francesco / Vallino, Veronica / Breazzano, Mark P / Pasini, Barbara / Reibaldi, Michele / Borrelli, Enrico

    Retinal cases & brief reports

    2024  

    Abstract: Purpose: To report multimodal imaging features of a novel MFSD8/CLN7 pathogenic variant associated with bilateral and symmetric non-syndromic macular dystrophy.: Methods: A 63-year-old female patient presented complaining of a gradual subjective ... ...

    Abstract Purpose: To report multimodal imaging features of a novel MFSD8/CLN7 pathogenic variant associated with bilateral and symmetric non-syndromic macular dystrophy.
    Methods: A 63-year-old female patient presented complaining of a gradual subjective decline in visual acuity in both eyes over the previous months. This patient underwent a comprehensive ophthalmological assessment, including multimodal retinal imaging and electrophysiological testing. Given suspicion for a hereditary retinal disorder, genetic testing was pursued.
    Results: The eye examination revealed blunted foveal reflexes and no lesions or abnormalities in the equatorial or anterior retinal periphery. Multimodal imaging showed a bilateral and almost symmetrical subfoveal interruption of the outer retinal layers including an optical gap. Genetic testing revealed that the MFSD8/CLN7 gene exhibited a homozygous variant, specifically p.Ala484Val (c.1451C>T). This variant was identified as the likely causative factor for the condition.
    Conclusion: We herein describe the clinical findings of a previously unreported homozygous variant in the MFSD8/CLN7 gene, resulting in a non-syndromic form of bilateral central macular dystrophy.
    Language English
    Publishing date 2024-02-26
    Publishing country United States
    Document type Journal Article
    ISSN 1937-1578
    ISSN (online) 1937-1578
    DOI 10.1097/ICB.0000000000001553
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  2. Article ; Online: OCT risk factors for 2-year foveal involvement in non-treated eyes with extrafoveal geographic atrophy and AMD.

    Borrelli, Enrico / Barresi, Costanza / Berni, Alessandro / Viggiano, Pasquale / Reibaldi, Michele / Introini, Ugo / Bandello, Francesco

    Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

    2024  

    Abstract: Purpose: To assess the relationship of optical coherence tomography (OCT) findings and progression to foveal atrophy in a cohort of eyes with extrafoveal geographic atrophy (GA) and age-related macular degeneration (AMD) at inclusion.: Methods: We ... ...

    Abstract Purpose: To assess the relationship of optical coherence tomography (OCT) findings and progression to foveal atrophy in a cohort of eyes with extrafoveal geographic atrophy (GA) and age-related macular degeneration (AMD) at inclusion.
    Methods: We retrospectively analyzed 45 participants (45 eyes) with extrafoveal GA at baseline and with 2 years of regular follow-ups. Several OCT qualitative features (i.e., presence of foveal flat pigment epithelium detachment with a thin double layer sign [DLS] and reticular pseudodrusen, GA focality) and quantitative measurements (outer retinal layer thickness, retinal pigment epithelium [RPE] to Bruch's membrane [BM] volume, minimum distance from the central foveal circle, and untransformed GA lesion size area) were assessed at baseline. Logistic regression analyses were carried out to identify independent significant predictors and compute odds ratios (ORs) for the risk of the development of atrophy.
    Results: At month 24, 26 eyes (57.8%) developed atrophy in the foveal central circle, while 11 eyes (24.4%) developed atrophy in the foveal central point. Significant independent predictive features for the development of atrophy in the foveal central circle included foveal outer retinal thickness (OR, 0.867; p = 0.015), minimum distance from the foveal central circle (OR, 0.992; p = 0.022), and foveal thin DLS (OR, 0.044; p = 0.036). The only independent predictive feature for the development of atrophy in the foveal central point was the presence of foveal thin DLS (OR, 0.138; p = 0.017).
    Conclusions: We identified OCT risk factors for 2-year foveal atrophy in eyes with untreated extrafoveal GA at baseline.
    Language English
    Publishing date 2024-02-08
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 8435-9
    ISSN 1435-702X ; 0721-832X
    ISSN (online) 1435-702X
    ISSN 0721-832X
    DOI 10.1007/s00417-024-06399-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  3. Article ; Online: Pitchfork sign following pars Plana vitrectomy for idiopathic epiretinal membrane: A case report.

    Gelormini, Francesco / Parisi, Guglielmo / Vallino, Veronica / Ricardi, Federico / Marolo, Paola / Borrelli, Enrico / Reibaldi, Michele

    European journal of ophthalmology

    2024  Volume 34, Issue 3, Page(s) NP92–NP96

    Abstract: Purpose: To report a case of pitchfork sign following pars plana vitrectomy for idiopathic epiretinal membrane.: Study design: Case report.: Results: A 75-year-old man was referred to the surgical retina service due to a quantitative and ... ...

    Abstract Purpose: To report a case of pitchfork sign following pars plana vitrectomy for idiopathic epiretinal membrane.
    Study design: Case report.
    Results: A 75-year-old man was referred to the surgical retina service due to a quantitative and qualitative decline in vision in the left eye (LE) for several months. Optical coherence tomography (OCT) examination revealed the presence of a stage III epiretinal membrane (ERM) according to the Govetto classification. Seven days after undergoing a 25-gauge pars plana vitrectomy (PPV) with ERM peeling and balanced salt solution (BSS) tamponade, OCT examination revealed the presence of the 'pitchfork sign' in the macular region, along with the detection of a choroidal neovascularization (CNV) through OCT-A examination. After receiving two monthly intravitreal anti-VEGF injections, a complete regression of the MNV was observed.
    Conclusions: We reported, for the first time, the iatrogenic onset of the pitchfork sign following vitreoretinal surgery. This discovery highlights the unique presentation of the pitchfork sign in the context of surgical procedures, expanding our comprehension of its range of causes.
    MeSH term(s) Humans ; Epiretinal Membrane/surgery ; Epiretinal Membrane/diagnosis ; Vitrectomy/adverse effects ; Aged ; Male ; Tomography, Optical Coherence ; Visual Acuity ; Intravitreal Injections ; Angiogenesis Inhibitors/therapeutic use ; Angiogenesis Inhibitors/administration & dosage ; Choroidal Neovascularization/diagnosis ; Choroidal Neovascularization/drug therapy ; Choroidal Neovascularization/etiology ; Choroidal Neovascularization/surgery ; Vascular Endothelial Growth Factor A/antagonists & inhibitors
    Chemical Substances Angiogenesis Inhibitors ; Vascular Endothelial Growth Factor A
    Language English
    Publishing date 2024-02-26
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1089461-5
    ISSN 1724-6016 ; 1120-6721
    ISSN (online) 1724-6016
    ISSN 1120-6721
    DOI 10.1177/11206721241234426
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  4. Article ; Online: Structural OCT and OCT angiography biomarkers associated with the development and progression of geographic atrophy in AMD.

    Vallino, Veronica / Berni, Alessandro / Coletto, Andrea / Serafino, Sonia / Bandello, Francesco / Reibaldi, Michele / Borrelli, Enrico

    Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

    2024  

    Abstract: Background: Geographic atrophy (GA) is an advanced, irreversible, and progressive form of age-related macular degeneration (AMD). Structural optical coherence tomography (OCT) and OCT angiography (OCTA) have been largely used to characterize this stage ... ...

    Abstract Background: Geographic atrophy (GA) is an advanced, irreversible, and progressive form of age-related macular degeneration (AMD). Structural optical coherence tomography (OCT) and OCT angiography (OCTA) have been largely used to characterize this stage of AMD and, more importantly, to define biomarkers associated with the development and progression of GA in AMD.
    Methods: Articles pertaining to OCT and OCTA biomarkers related to the development and progression of GA with relevant key words were used to search in PubMed, Researchgate, and Google Scholar. The articles were selected based on their relevance, reliability, publication year, published journal, and accessibility.
    Results: Previous reports have highlighted various OCT and OCTA biomarkers linked to the onset and advancement of GA. These biomarkers encompass characteristics such as the size, volume, and subtype of drusen, the presence of hyperreflective foci, basal laminar deposits, incomplete retinal pigment epithelium and outer retinal atrophy (iRORA), persistent choroidal hypertransmission defects, and the existence of subretinal drusenoid deposits (also referred to as reticular pseudodrusen). Moreover, biomarkers associated with the progression of GA include thinning of the outer retina, photoreceptor degradation, the distance between retinal pigment epithelium and Bruch's membrane, and choriocapillaris loss.
    Conclusion: The advent of novel treatment strategies for GA underscores the heightened need for prompt diagnosis and precise monitoring of individuals with this condition. The utilization of structural OCT and OCTA becomes essential for identifying distinct biomarkers associated with the initiation and progression of GA.
    Language English
    Publishing date 2024-04-30
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 8435-9
    ISSN 1435-702X ; 0721-832X
    ISSN (online) 1435-702X
    ISSN 0721-832X
    DOI 10.1007/s00417-024-06497-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  5. Article ; Online: Foveal photoreceptor disruption in ocular diseases: An optical coherence tomography-based differential diagnosis.

    Singh, Sumit Randhir / Vaidya, Harshit / Borrelli, Enrico / Chhablani, Jay

    Survey of ophthalmology

    2023  Volume 68, Issue 4, Page(s) 655–668

    Abstract: Fovea centralis, located at the center of the macula, is packed with cone photoreceptors and is responsible for central visual acuity. Isolated foveal photoreceptor disruption may occur in a variety of hereditary, degenerative, traumatic, and toxic ... ...

    Abstract Fovea centralis, located at the center of the macula, is packed with cone photoreceptors and is responsible for central visual acuity. Isolated foveal photoreceptor disruption may occur in a variety of hereditary, degenerative, traumatic, and toxic chorioretinal diseases. These have been known previously by multiple synonyms including macular microhole, foveal spot, and outer foveal microdefects. A common clinical feature underlying these conditions is the presence of apparently normal fovea or subtle hypopigmented lesion at the foveal or juxtafoveal area. A detailed history along with high-resolution optical coherence tomography is often helpful to derive a conclusive diagnosis in majority of these cases. Focal photoreceptor disruption usually involves loss or rarefaction of ellipsoid/interdigitation zone, either in isolation or associated with external limiting membrane or retinal pigment epithelium disruption in the fovea. Vitreomacular interface (VMI) disorders including vitreomacular traction, posterior vitreous detachment, epiretinal membrane, and impending macular hole possibly remain the most common cause. Retinal dystrophies such as cone dystrophy, occult macular dystrophy, and achromatopsia may present with diminution of vision and normal appearing fundus in a younger age group. Other causes include photic retinopathy (e.g., from a history of sun gazing or laser pointer exposure), blunt trauma, drug exposure (e.g., poppers maculopathy or tamoxifen retinopathy), and acute retinal pigment epitheliopathy (ARPE). Visual prognosis depends on the underlying etiology with complete recovery common in the subset of patients with VMI, and ARPE, whereas persistent outer retinal defects are the rule in other conditions. We discuss the differential diagnoses that lead to isolated foveal photoreceptor defects. Identifying and understanding the underlying disease processes that cause foveal photoreceptor disruption may help predict visual prognosis.
    MeSH term(s) Humans ; Fovea Centralis/pathology ; Tomography, Optical Coherence/methods ; Diagnosis, Differential ; Retinal Diseases/diagnosis ; Retinal Perforations/diagnosis ; Eye Diseases/diagnosis ; Retrospective Studies
    Language English
    Publishing date 2023-03-18
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 391346-6
    ISSN 1879-3304 ; 0039-6257
    ISSN (online) 1879-3304
    ISSN 0039-6257
    DOI 10.1016/j.survophthal.2023.03.003
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  6. Article ; Online: Middle-aged Woman With Bilateral Macular Atrophy, Hearing Loss, and Headache.

    Borrelli, Enrico / La Morgia, Chiara / Querques, Giuseppe

    JAMA ophthalmology

    2021  Volume 139, Issue 11, Page(s) 1238–1239

    MeSH term(s) Atrophy ; Female ; Headache/diagnosis ; Headache/etiology ; Hearing Loss/diagnosis ; Hearing Loss/etiology ; Humans ; Macular Degeneration ; Middle Aged ; Retinal Drusen
    Language English
    Publishing date 2021-09-09
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2701705-9
    ISSN 2168-6173 ; 2168-6165
    ISSN (online) 2168-6173
    ISSN 2168-6165
    DOI 10.1001/jamaophthalmol.2021.0944
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  7. Article ; Online: Platelet concentrates in macular hole surgery. A journey through the labyrinth of terminology, preparation, and application: a comprehensive review.

    Gelormini, Francesco / D'antico, Sergio / Ricardi, Federico / Parisi, Guglielmo / Borrelli, Enrico / Marolo, Paola / Conte, Fabio / Salafia, Marika / Reibaldi, Michele

    Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

    2024  

    Abstract: The surgical management of macular holes is undergoing continuous evolution, with recent focus on the utilization of platelet concentrates as a promising adjunctive intervention. Currently, they present a valid surgical approach for achieving anatomical ... ...

    Abstract The surgical management of macular holes is undergoing continuous evolution, with recent focus on the utilization of platelet concentrates as a promising adjunctive intervention. Currently, they present a valid surgical approach for achieving anatomical and functional success with a non-inferiority comparably to the alternative surgical techniques. Nonetheless, the utilization of varied platelet concentrates terminologies, coupled with the lack of standardization in their preparation methodologies, engenders both lexical confusion and challenges in comparing scientific studies published up until now. In this review, we summarized the published evidence concerning the application of platelet concentrates in macular holes surgery, aiming to clarify the terminology and methodologies employed and to establish a common consensus facilitating further development and diffusion of this promising technique.
    Language English
    Publishing date 2024-01-25
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 8435-9
    ISSN 1435-702X ; 0721-832X
    ISSN (online) 1435-702X
    ISSN 0721-832X
    DOI 10.1007/s00417-023-06365-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  8. Article ; Online: Viral arthritis and COVID-19.

    Parisi, Simone / Borrelli, Richard / Bianchi, Sabina / Fusaro, Enrico

    The Lancet. Rheumatology

    2020  Volume 2, Issue 11, Page(s) e655–e657

    Keywords covid19
    Language English
    Publishing date 2020-10-05
    Publishing country England
    Document type Journal Article
    ISSN 2665-9913
    ISSN (online) 2665-9913
    DOI 10.1016/S2665-9913(20)30348-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  9. Article ; Online: Choroidal remodeling following different anti-VEGF therapies in neovascular AMD.

    Boscia, Giacomo / Pozharitskiy, Nikolai / Grassi, Maria Oliva / Borrelli, Enrico / D'Addario, Marina / Alessio, Giovanni / Boscia, Francesco / Viggiano, Pasquale

    Scientific reports

    2024  Volume 14, Issue 1, Page(s) 1941

    Abstract: The purpose of this study was to investigate choroidal morphology remodeling in AMD-associated type 1 macular neovascularization using two different anti-VEGF drugs. We registered 73 treatment-naïve eyes with a diagnosis of exudative AMD and type 1 MNV. ... ...

    Abstract The purpose of this study was to investigate choroidal morphology remodeling in AMD-associated type 1 macular neovascularization using two different anti-VEGF drugs. We registered 73 treatment-naïve eyes with a diagnosis of exudative AMD and type 1 MNV. Patients received 3 monthly intravitreal aflibercept (n = 36, aflibercept group [AG]) or brolucizumab (n = 37, brolucizumab group [BG]). Baseline best-corrected visual acuity (BCVA) and anatomical (structural optical coherence tomography) parameters were collected at "T1 control", before the loading phase (LP) of intravitreal injection, and at "T2 control", 1 month after the last injection. The main outcomes measured were choroidal vascularity index (CVI), sub-foveal choroidal thickness (SFCT), and central macular thickness (CMT). Our results displayed significant SFCT reduction in both groups between T1 and T2 (p < 0.05), We did not find choroidal vascularity modifications (p > 0.05) after the loading aflibercept injections. Moreover, only the BG displayed a significant choroidal remodeling (stromal choroidal area [SCA], total choroidal area [TCA] and CVI) at T2 (p < 0.05). In particular, a relevant stromal and total choroidal volume reduction was noted, accompanied by an increase in CVI. To conclude, the latter modifications of the choroidal morphology were found significant between two groups (p < 0.05). Our analysis showed a significant impact of brolucizumab on choroidal morphology in eyes affected by type 1 nAMD. This effect was found relevant when compared with aflibercept.
    MeSH term(s) Humans ; Angiogenesis Inhibitors/therapeutic use ; Vascular Endothelial Growth Factor A ; Visual Acuity ; Wet Macular Degeneration ; Choroid/diagnostic imaging
    Chemical Substances Angiogenesis Inhibitors ; Vascular Endothelial Growth Factor A
    Language English
    Publishing date 2024-01-22
    Publishing country England
    Document type Journal Article
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-024-52315-w
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

  10. Article ; Online: The fecal bacterial microbiota is not useful for discriminating between lymphoplasmacytic enteritis and low-grade intestinal T-cell lymphoma in cats nor for predicting therapeutic response.

    Benvenuti, Elena / Ferriani, Riccardo / Gianella, Paola / Ruggiero, Pietro / Cagnasso, Federica / Borrelli, Antonio / Benvenuto, Giuseppe / Bertoldi, Loris / Bottero, Enrico

    American journal of veterinary research

    2024  Volume 85, Issue 4

    Abstract: Objective: To evaluate the fecal bacterial microbiota at the time of diagnosis (T0) and after 1 month of therapy (T1) in cats diagnosed with lymphoplasmacytic enteritis (LPE) or cats with low-grade intestinal T-cell lymphoma (LGITL) and to compare these ...

    Abstract Objective: To evaluate the fecal bacterial microbiota at the time of diagnosis (T0) and after 1 month of therapy (T1) in cats diagnosed with lymphoplasmacytic enteritis (LPE) or cats with low-grade intestinal T-cell lymphoma (LGITL) and to compare these findings with those of healthy cats.
    Animals: 5 healthy cats, 13 cats with LPE, and 7 cats with LGITL were prospectively enrolled between June 2020 and June 2021.
    Methods: Fecal samples were collected at T0 and T1, and DNA was extracted for 16S ribosomal amplicon sequencing. Alpha diversity and beta diversity were computed. The taxonomic assignment was performed using sequences from the Silva v138 formatted reference database. Differential abundant taxa were selected in each taxonomic level, with the P value adjusted < .05, as the cut-off.
    Results: No significant differences in alpha and beta diversity were found either at T0 or T1 between healthy and diseased cats or between cats with LPE and LGITL. Beta-diversity analysis showed an increase in the Fusobacteriaceae family in cats with LGITL at T0, compared to cats with LPE. Regardless of histological diagnosis, several microbiota differences were found at T0 based on serum cobalamin levels.
    Clinical relevance: Fecal samples were successfully used to characterize the bacteriome of the intestinal tract in cats by 16S rRNA gene sequencing. However, results highlighted that the metagenomic evaluation was not useful to discriminate between LPE and LGITL nor to predict the therapeutic response in this study population.
    MeSH term(s) Humans ; Cats ; Animals ; RNA, Ribosomal, 16S/genetics ; Enteritis/diagnosis ; Enteritis/veterinary ; Feces/microbiology ; Bacteria ; Microbiota ; Lymphoma, T-Cell/veterinary ; Cat Diseases/diagnosis
    Chemical Substances RNA, Ribosomal, 16S
    Language English
    Publishing date 2024-02-09
    Publishing country United States
    Document type Journal Article
    ZDB-ID 390796-x
    ISSN 1943-5681 ; 0002-9645
    ISSN (online) 1943-5681
    ISSN 0002-9645
    DOI 10.2460/ajvr.23.11.0251
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

To top