Publications by authors named "I Ben Said"

Purpose: To report a case of bilateral ocular cryptococcosis in an immunocompetent patient without neurologic findings.

Methods: Case report.

Results: A 30-year-old healthy Caucasian man presented with painless blurred vision in the left eye.

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  • * Objectives: The study aimed to investigate genetic variants in two deceased neonates exhibiting uncommon OCA1 traits and to explore how TKFC variants might contribute to broader health issues.
  • * Results: Genetic analysis confirmed harmful variants in both TYR and TKFC genes in the affected neonates and suggested that these variants could disrupt normal biological functions, leading to severe health problems.
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Background: Patients on hemodialysis (HD) are prone to various cardiovascular complications. Two-dimensional speckle tracking echocardiography (2D STE) is an innovative technique for early myocardial dysfunction detection, even with normal ejection fraction (EF).

Objective: We aim to detect left ventricle (LV) dysfunction in regular hemodialysis patients using 2D STE compared to traditional echocardiography.

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  • The study utilizes k-Seek software to analyze 2,504 human genomes, revealing the prevalence of simple satellites, particularly Human Satellite 3, which makes up about 8 Mb of the genetic content.
  • Researchers identified ~50,000 rare tandem repeats not previously cataloged, including new variants of important genetic elements like telomeric and pericentromeric repeats.
  • Findings show that while most abundant repeats are similar across populations, AG-rich repeats are notably more prevalent in African individuals; the variations in simple satellite abundances correlate with genetic relatedness among individuals, particularly in relation to specific chromosome ancestries.
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Flying foxes of the genus Pteropus, especially those inhabiting islands, face increasing pressure from anthropogenic threats. A first step to implementing effective conservation actions is to establish monitoring projects to understand a species' population status and trend. Pteropus species are highly affected by seasonality which further requires regular, repeated, and long-term data to understand population trends, and reactions to severe weather events.

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