Identification of a de novo PUF60 variant associated with craniofacial microsomia.

Craniofacial microsomia (CFM), also known as the oculo-auriculo-vertebral spectrum, is a congenital disorder characterized by hypoplasia of the mandible and external ear due to tissue malformations originating from the first and second branchial arches. However, distinguishing it from other syndromes of branchial arch abnormalities is difficult, and causal variants remain unidentified in many cases. In this report, we performed an exome sequencing analysis of a Brazilian family with CFM. The proband was a 12-month-old boy with clinical findings consistent with the diagnostic criteria for CFM, including unilateral mandibular hypoplasia, microtia, and external auditory canal abnormalities. A heterozygous de novo nonsense variant (c.713C>G, p.S238*) in PUF60 was identified, which was predicted to be pathogenic in silico. PUF60 has been reported as a causal gene in Verheij syndrome, but not in CFM. Although the boy showed craniofacial abnormalities and developmental delay that overlapped with Verheij syndrome, the facial asymmetry with unilateral hypoplasia of the mandible observed in this case did not match the previously reported phenotypes of PUF60 variants. Our findings expand the phenotypic range of PUF60 variants that cover CFM and Verheij syndrome.

Laryngeal microweb and vocal nodules. Clinical study in a Brazilian population.

The etiology and pathogenesis of laryngeal microwebs are heterogeneous, and in most cases they are an incidental finding. It has also been suggested that microwebs could be a familial trait, representing a postblastogenic embryonic vestigial structure that might alter the biomechanical and vibratory properties of the vocal fold. Vocal nodules are small benign swellings along the margins of the vocal cords, with preferential location at the junction of the anterior and middle thirds, and usually resulting from mechanical trauma. The authors studied a sample of 107 patients with vocal nodules, looking for a possible correlation with microwebs due to the predicted involvement in the vibration of vocal cord margins. Glottic proportion, type of glottic closure, nodule location and the main complaints in patients with microwebs were compared with those in a sample of patients without microwebs. In the present study, microwebs were found in 9.4% of the patients, who showed much smaller glottic proportion than patients with micronodules only. Furthermore, vocal nodule location was not related to the presence and/or absence of laryngeal microwebs.

Avaliaçäo dos parâmetros vocais antes e após treinamento em participantes do grupo de teatro da USP-Bauru / Evaluating the vocal behavior of the members of the theater group of USP in Bauru

Este trabalho teve como objetivo avaliar o comportamento vocal dos integrantes do grupo de teatro da USP-Bauru. A avaliaçäo proposta foi realizada antes e após treinamento vocal, a fim de se constatar se houve ou näo mudança com relaçäo aos parâmetros vocais pesquisados. Com esse trabalho, pudemos observar melhora variável desses parâmetros, sendo que ressonância e projeçäo vocal foram os de maior significância em termos de benefício