BIALLELIC VARIANTS IN CSMD1 ARE IMPLICATED IN A NEURODEVELOPMENTAL DISORDER WITH INTELLECTUAL DISABILITY AND VARIABLE CORTICAL MALFORMATIONS

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

Abstract CSMD1 (Cub and Sushi Multiple Domains 1) is a well-recognized regulator of the complement cascade, an important component of the innate Nail Tips immune response.CSMD1 is highly expressed in the central nervous system (CNS) where emergent functions of the complement pathway modulate neural development and synaptic activity.While a genetic

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Gaps in measles surveillance and vaccination data in India

Abstract Accurate measles data is crucial for effective disease surveillance, outbreak response, and vaccination strategy formulation in India.However, data collection and analysis face significant challenges due to limitations in primary data sources, including the Health Management Fan Shop - Oilers - Clothing Information System (HMIS), the Integ

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Unilateral Eyelid Edema as Initial Sign of Orbital Sarcoidosis

Introduction.Sarcoidosis is a rare multisystemic granulomatous inflammatory disease of unknown etiology affecting the respiratory system, skin, and eyes.Sarcoidosis outside the lacrimal gland is rare.The case study concerns a patient with a final diagnosis of orbital sarcoidosis.Case Report.A 37-year-old male patient went to the ophthalmic emergenc

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Construction of the fitness function depending on a set of competing strategies based on the analysis of population dynamics

The purpose of this work is to construct a fitness function that depends on the set of coexisting competing hereditary elements based on population dynamics in the “predator– prey” model with the logistic growth of prey.Materials and methods.The work uses the generalized Volterra model.The planktivorous fish plays the role of a pr

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