Novel fetal phenotype of TAF8 deficiency.

TAF8 is part of the transcription factor TFIID complex. TFIID is crucial for recruiting the transcription factor complex containing RNA polymerase II. TAF8 deficiency was recently reported as causing a severe neurodevelopmental disorder in eight patients.

Case report: Novel insights into hemorrhagic destruction of the brain, subependymal calcification, and cataracts disease.

Introduction: Pathogenic variants of the junctional adhesion molecule 3 (; OMIM#606871) is the cause of the rare recessive disorder called hemorrhagic destruction of the brain, subependymal calcification, and cataracts (HDBSCC, OMIM#613730) disease. A similar phenotype is universal, including congenital cataracts and brain hemorrhages with high mortality rate in the first few weeks of life and with a poor neurologic outcome in survivors. We aim to describe and enlighten novel phenotype and genotype of a new patient and review the literature regarding all reported patients worldwide.

Echolalia in the language development of autistic individuals: a bibliographical review.

Background: echolalia is one of the most common symptoms among the language characteristics in Autism.

Aim: to provide a detailed literature revision about the role of echolalia in the language development process of autistic individuals, and to discuss the use of this language feature in the speech-language clinical practice. The researches show classifications and analysis criterions of echolalia in a discursive context.

Yeast protein-surfactant complexes uncouple microbial electron transfer and increase transmembrane leak of protons.

Aims: To explore the combined effect of yeast proteins and surfactants on bacterial metabolism.

Methods And Results: Protein-rich cell-free supernatant from heat-shocked yeast Saccharomyces cerevisiae was combined with certain synthetic surfactants. These blends affected the metabolism of a Polyseed inoculum of aerobic bacteria, accelerating CO(2) production and consumption of nutrients from a sterile nutrient broth solution, without a concomitant accumulation of biomass.