Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 - implications for retinal screening in HSN1.

Pathogenic variants in the genes encoding serine palmitoyl transferase (SPTLC1 or SPTLC2) are the most common causes of the rare peripheral nerve disorder Hereditary Sensory Neuropathy Type 1 (HSN1). Macular telangiectasia type 2 (MacTel), a retinal disorder associated with disordered serine-glycine metabolism, has been described in some patients with HSN1. This study aims to further investigate this association in a cohort of people with HSN1.

Co-Exposure with an Invasive Seaweed Exudate Increases Toxicity of Polyamide Microplastics in the Marine Mussel .

Plastic pollution and invasive species are recognised as pervasive threats to marine biodiversity. However, despite the extensive on-going research on microplastics' effects in the biota, knowledge on their combination with additional stressors is still limited. This study investigates the effects of polyamide microplastics (PA-MPs, 1 mg/L), alone and in combination with the toxic exudate from the invasive red seaweed (2%), after a 96 h exposure, in the mussel .

A Novel Pathogenic Variant in a Mother and Daughter with Blau Syndrome.

Background: Blau syndrome (BS) is a rare dominantly-inherited autoinflammatory disorder characterized by the triad of arthritis, uveitis and dermatitis that is consequence of gain-of-function mutations. We describe the clinical features and genetic basis of a family with two affected members in consecutive generations affected with childhood onset arthritis and uveitis.

Materials And Methods: Clinical features were retrospectively collected from clinical records.

Reliability of Retinal Pathology Quantification in Age-Related Macular Degeneration: Implications for Clinical Trials and Machine Learning Applications.

Purpose: To investigate the interreader agreement for grading of retinal alterations in age-related macular degeneration (AMD) using a reading center setting.

Methods: In this cross-sectional case series, spectral-domain optical coherence tomography (OCT; Topcon 3D OCT, Tokyo, Japan) scans of 112 eyes of 112 patients with neovascular AMD (56 treatment naive, 56 after three anti-vascular endothelial growth factor injections) were analyzed by four independent readers. Imaging features specific for AMD were annotated using a novel custom-built annotation platform.

Quantification of Key Retinal Features in Early and Late Age-Related Macular Degeneration Using Deep Learning.

Purpose: We sought to develop and validate a deep learning model for segmentation of 13 features associated with neovascular and atrophic age-related macular degeneration (AMD).

Design: Development and validation of a deep-learning model for feature segmentation.

Methods: Data for model development were obtained from 307 optical coherence tomography volumes.

[Food and beverages available in automatic food dispensers in health care facilities of the Portugal North Health Region].

Patients and health staff frequently need to stay in health care facilities for quite a long time. Therefore, it's necessary to create the conditions that allow the ingestion of food during those periods, namely through the existence of automatic food dispensers. However, the available food and beverages might not always be compatible with a healthy diet.