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Alström syndrome: the journey to diagnosis.

Orphanet J Rare Dis

January 2025

Department of Diabetes, Endocrinology and Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, B15 2TH, UK.

Background: Alström syndrome (AS) is a recessively inherited genetic condition which is ultra-rare and extremely complex. Symptoms include retinal dystrophy, nystagmus, photophobia, hearing loss, obesity, insulin resistance, diabetes and cardiomyopathy. The condition is progressive, but it is important to note that not all the complications associated with AS occur in everyone affected.

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Background: Guidelines recommend endoscopic surveillance for gastric cancer without therapeutic intervention every 3 years in patients with high-risk gastric intestinal metaplasia (GIM). This study aimed to evaluate the efficacy of radiofrequency ablation (RFA) in eradicating high-risk GIM.

Methods: This randomized self-control trial was conducted between June 2020 and February 2023.

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Background: Group housing of sows has been extensively studied since the EU banned gestation crating. Well-managed group-housing promotes sow welfare, but the impact varies based on factors such as feeding, group characteristics, and environmental features. Adequate floor space, particularly directly post-mixing, is crucial for social interactions, natural behaviours, and to reduce injuries caused by aggression.

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Automatic image generation and stage prediction of breast cancer immunobiological through a proposed IHC-GAN model.

BMC Med Imaging

January 2025

Electronics and Communications, Arab Academy for Science, Heliopolis, Cairo, 2033, Egypt.

Invasive breast cancer diagnosis and treatment planning require an accurate assessment of human epidermal growth factor receptor 2 (HER2) expression levels. While immunohistochemical techniques (IHC) are the gold standard for HER2 evaluation, their implementation can be resource-intensive and costly. To reduce these obstacles and expedite the procedure, we present an efficient deep-learning model that generates high-quality IHC-stained images directly from Hematoxylin and Eosin (H&E) stained images.

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Background: This case report describes a rare case of Coats disease in adult female patient with preserved vision after intravitreal Aflibercept injection and laser photocoagulation.

Case Presentation: A female patient of Asian Palestinian descent, aged 20, exhibited a progressive and painless deterioration in the vision of her left eye over a period of two weeks. She exhibited no additional ocular symptoms.

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