Extreme Phenotypic Variability of -Related Disorders in Hearing Loss.

Hearing loss is the most common sensory defect in humans, affecting normal communication. In most cases, hearing loss is a multifactorial disorder caused by both genetic and environmental factors, but single-gene mutations can lead to syndromic or non-syndromic hearing loss. Monoallelic variants in , coding for gamma (γ)-actin, are associated with classical Baraitser-Winter Syndrome type 2 (BRWS2, nonsyndromic deafness, and a variety of clinical presentations not fitting the original BRWS2 description or nonsyndromic deafness.

In vitro model of reconstructed human corneal epithelium for the evaluation of ocular surface desiccation and protection with vitamin A enriched ophthalmic ointment.

The aim of this study was to evaluate the efficacy of a paraffin ointment enriched with vitamin A in the protection against severe desiccation using 2D and 3D corneal epithelial in vitro models. We used immortalized human corneal epithelial cell cultures to evaluate the efficacy of four compounds -a paraffin ointment enriched with vitamin A (vA-PFF) and its vehicle; an aqueous gel containing hydroxypropyl guar (HPG); and an aqueous gel containing sodium carboxymethylcellulose (CMC)- to preserve cell viability in an in vitro model of desiccation. WST-1 and Live/Dead assays were used to study cell viability.

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Cilia are essential organelles and variants in genes governing ciliary function result in ciliopathic diseases. The Ciliogenesis and PLANar polarity Effectors (CPLANE) protein complex is essential for ciliogenesis in animals models but remains poorly defined. Notably, all but one subunit of the CPLANE complex have been implicated in human ciliopathy.

Health-related quality of life in 153 children with neuromuscular disorders in Latin America: is it age, functional dependence or diagnosis?

Neuromuscular diseases impact on children's health related quality of life but there is a lack of studies in Latin America that measured this construct. To respond to this need, this study aimed to explore quality of life and its relationship with age, functional dependence and specific diagnosis in children and adolescents in Latin America. A cross-sectional correlation study was carried out with 133 caregivers on children (2-18 years old) with various neuromuscular disorders.