Therapeutic approaches with intravitreal injections in geographic atrophy secondary to age-related macular degeneration: current drugs and potential molecules

The present review focuses on recent clinical trials that analyze the efficacy of intravitreal therapeutic agents for the treatment of dry age-related macular degeneration (AMD), such as neuroprotective drugs, and complement inhibitors, also called immunomodulatory or anti-inflammatory agents. A systematic literature search was performed to identify randomized controlled trials published prior to January 2019. Patients affected by dry AMD treated with intravitreal therapeutic agents were included. Changes in the correct visual acuity and reduction in geographic atrophy progression were evaluated. Several new drugs have shown promising results, including those targeting the complement cascade and neuroprotective agents. The potential action of the two groups of drugs is to block complement cascade upregulation of immunomodulating agents, and to prevent the degeneration and apoptosis of ganglion cells for the neuroprotectors, respectively. Our analysis indicates that finding treatments for dry AMD will require continued collaboration among researchers to identify additional molecular targets and to fully interrogate the utility of pluripotent stem cells for personalized therapy

Management of patients with Graves' disease and orbital involvement: role of spectral domain optical coherence tomography

PURPOSE: To investigate the role of choroidal thickness evaluation with spectral domain optical coherence tomography (SDOCT) and enhanced depth imaging (EDI) technique in the management of patients with Graves' disease and orbitopathy (GO). METHODS: Thirty-six eyes of 18 patients with GO and 36 eyes of 18 age-matched control subjects were included in this retrospective observational study. All the subjects underwent a complete ophthalmological evaluation, including clinical activity score (CAS) and exophthalmometry. The SDOCT images of the choroid were obtained by EDI modality. RESULTS: Choroidal thickness was significantly increased in GO than in control eyes (p < 0.01). A significant correlation was found between choroidal thickness and CAS, proptosis, and the duration of disease (p < 0.05). CONCLUSION: This study shows that choroidal thickness, evaluated with EDI-OCT, is significantly increased in patients with GO and correlates with the activity of the disease, proptosis, and duration of the disease. The choroidal thickening may reflect the ocular hemodynamic changes, and enhanced depth imaging optical coherence tomography may be a useful tool for the evaluation of orbital congestion and management of patients with Graves' disease and orbital involvement

Feature Selection Using Genetic Algorithms and Genetic Programming

Rodrigues, N. M., Batista, J. E., La Cava, W., Vanneschi, L., & Silva, S. (2024). Exploring SLUG: Feature Selection Using Genetic Algorithms and Genetic Programming. SN Computer Science, 5(1), 1-17. [91]. https://doi.org/10.1007/s42979-023-02106-3 --- Open access funding provided by FCT|FCCN (b-on). This work was partially supported by the FCT, Portugal, through funding of the LASIGE Research Unit (UIDB/00408/2020 and UIDP/00408/2020); MAR2020 program via project MarCODE (MAR$$-$$01.03.01-FEAMP-0047); project AICE (DSAIPA/DS/0113/2019). Nuno Rodrigues and João Batista were supported by PhD Grants 2021/05322/BD and SFRH/BD/143972/2019, respectively; William La Cava was supported by the National Library Of Medicine of the National Institutes of Health under Award Number R00LM012926We present SLUG, a recent method that uses genetic algorithms as a wrapper for genetic programming and performs feature selection while inducing models. SLUG was shown to be successful on different types of classification tasks, achieving state-of-the-art results on the synthetic datasets produced by GAMETES, a tool for embedding epistatic gene–gene interactions into noisy datasets. SLUG has also been studied and modified to demonstrate that its two elements, wrapper and learner, are the right combination that grants it success. We report these results and test SLUG on an additional six GAMETES datasets of increased difficulty, for a total of four regular and 16 epistatic datasets. Despite its slowness, SLUG achieves the best results and solves all but the most difficult classification tasks. We perform further explorations of its inner dynamics and discover how to improve the feature selection by enriching the communication between wrapper and learner, thus taking the first step toward a new and more powerful SLUG.publishersversionpublishe

X-linked dominant RPGR gene mutation in a familial Coats angiomatosis

Background: Retinitis Pigmentosa (RP) is the most frequent retinal hereditary disease and every kind of transmission pattern has been described. The genetic etiology of RP is extremely heterogeneous and in the last few years the large application of Next Generation Sequencing (NGS) approaches improved the diagnostic yield, elucidating previously unexplained RP causes and new genotype-phenotype correlations. The objective of this study was to reevaluate a previously reported family affected by Coats’-type RP without genetic diagnosis and to describe the new genetic findings. Case presentation: Cohort, prospective, and single-center observational family case. Three individuals of a family, consisting of a mother and four sons, with a Coats phenotype were revaluated after 25 years of clinical follow-up using visual acuity tests, ophthalmoscopy, Goldmann visual field, electroretinography (ERG), and spectral domain-optical coherence tomography (SD-OCT). Specifically, a RP NGS panel was performed on one member of the family and segregation analysis was required for the other affected and unaffected members. NGS analysis disclosed a RPGR (Retinitis Pigmentosa GTPase Regulator) gene truncating variant segregating with the phenotype in all the three affected members. RPGR mutations are reported as causative of an X-linked RP. Conclusions: This is the first reported family with a Coats’-type RP associated to a RPGR mutation and segregating as a dominant X-linked disease, confirming the hypothesis of the genetic origin of this condition and expanding the phenotypic spectrum of diseases caused by RPGR gene mutations. The Authors suggest RPGR gene screening mutations in patients presenting this phenotype

REAÇÕES DE CRIANÇAS E ADOLESCENTES SUBMETIDOS À ANALGESIA TÓPICA LOCAL NA PUNÇÃO VENOSA PERIFÉRICA.

El objeto del estudio es la reacción del cliente sometido a analgesia tópica local en el período anterior, durante y después de la punción venosa periférica. El objetivo es conocer estas reacciones y evaluar la eficacia de la medicina. Fue utilizado el método cualitativo y los instrumentos para la producción de los datos fueron la observación participante y la entrevista semiestructurada. El lugar fue el Hospital de Día Pediátrico en el Hospital dos Servidores do Estado. Los sujetos son 12 clientes de 5 a 18 años que con sus cuidadores habían sido informados de las etapas del procedimiento. Antes de la punción, el 84% de los sujetos dijeron que tenían miedo del procedimiento, el 16% había demostrado tranquilidad y había dicho no sentir miedo. Durante la punción el 58% había cooperado, mientras que el 42% había necesitado la contención física por la madre. Después del procedimiento, 100% hablaron no haber sentido dolor. Se concluye que tiene eficacia la analgesia, pero que los períodos pre y trans-punción habían sido traumáticos. El razonamiento inductivo nos ha hecho reflexionar sobre la necesidad de evaluar los factores causales que habían llevado a niños a la sensación de miedo y a necesitar de la contención física por la madre, incluso después de haber recibido las explicaciones de la enfermera sobre el procedimiento.O objeto de estudo é a reação do cliente submetido à analgesia tópica local, nos períodos pré, trans e pós-punção venosa periférica. O objetivo é conhecer estas reações e avaliar a eficácia do medicamento. Foi utilizada a abordagem qualitativa e os instrumentos para produção dos dados foram a observação participante e entrevista semi-estruturada. O cenário foi o Hospital Dia Pediátrico do Hospital dos Servidores do Estado. Os sujeitos são 12 clientes de 5 à 18 anos que com seus cuidadores foram informados sobre as etapas do procedimento. Antes da punção 84% dos sujeitos verbalizaram medo do procedimento, 16% demonstraram tranqüilidade e disseram não sentir medo. Durante a punção 58% cooperaram, enquanto 42% necessitaram de contenção física pela mãe. Após o procedimento 100% verbalizaram não terem sentido dor. Conclui-se que há eficácia na analgesia, mas que os períodos pré e trans-punção foram traumáticos. O raciocínio indutivo nos fez refletir que há necessidade de avaliarmos os fatores causais que levaram as crianças a sentir medo e necessitarem de contenção física pela mãe, mesmo após receberem as explicações da enfermeira sobre o procedimento

Clinical and Epidemiological Study on Tubercular Uveitis in a Tertiary Eye Care Centre in Italy

PURPOSE: To describe frequency, clinical characteristics, and visual prognosis of tubercular uveitis (TBU) in a nonendemic country. METHODS: We retrospectively reviewed 3743 charts of patients with endogenous uveitis visited from 2008 to 2018 at a tertiary referral centre in Rome, Italy. We included immunocompetent patients with diagnosis of TBU. Patients were divided in two groups: patients with history of uveitis without a previous diagnosis of TBU (group A) and patients at their first episode of TB uveitis (group B). RESULTS: TBU was diagnosed in 28 (0.75%) out of 3743 patients. Twelve (42.9%) patients came from tuberculosis endemic areas. All patients received specific antitubercular treatment (ATT) and were evaluated for a mean follow-up of 3.2 ± 2.9 years. Group A showed a greater number of ocular complications when compared with group B. ATT was effective in reducing the frequency of recurrences of uveitis in patients of group B. CONCLUSION: Intraocular inflammation can be the first manifestation of tuberculosis. Our data highlight that early diagnosis and specific treatment of TBU may allow to decrease recurrences and to improve visual outcomes