De novo ALX4 variant detected in child with non-syndromic craniosynostosis

Current understanding of the genetic factors contributing to the etiology of non-syndromic craniosynostosis (NSC) remains scarce. The present work investigated the presence of variants in ALX4, EFNA4, and TWIST1 genes in children with NSC to verify if variants within these genes may contribute to the occurrence of these abnormal phenotypes. A total of 101 children (aged 45.07±40.94 months) with NSC participated in this cross-sectional study. Parents and siblings of the probands were invited to participate. Medical and family history of craniosynostosis were documented. Biological samples were collected to obtain genomic DNA. Coding exons of human TWIST1, ALX4, and EFNA4 genes were amplified by polymerase chain reaction and Sanger sequenced. Five missense variants were identified in ALX4 in children with bilateral coronal, sagittal, and metopic synostosis. A de novo ALX4 variant, c.799G>A: p.Ala267Thr, was identified in a proband with sagittal synostosis. Three missense variants were identified in the EFNA4 gene in children with metopic and sagittal synostosis. A TWIST1 variant occurred in a child with unilateral coronal synostosis. Variants were predicted to be among the 0.1% (TWIST1, c.380C>A: p. Ala127Glu) and 1% (ALX4, c.769C>T: p.Arg257Cys, c.799G>A: p.Ala267Thr, c.929G>A: p.Gly310Asp; EFNA4, c.178C>T: p.His60Tyr, C.283A>G: p.Lys95Glu, c.349C>A: Pro117Thr) most deleterious variants in the human genome. With the exception of ALX4, c.799G>A: p.Ala267Thr, all other variants were present in at least one non-affected family member, suggesting incomplete penetrance. Thus, these variants may contribute to the development of craniosynostosis, and should not be discarded as potential candidate genes in the diagnosis of this condition.

Susceptibilidade a antimicrobianos de bactérias isoladas de otite externa em cães / Antimicrobial sensitivity of bacteria from otitis externa in dogs

The occurrence of canine externa otitis in Fortaleza-Ceará is reported. About 91.5 percent of the animals with clinical signs were positive to bacterial culture. Among all infections, 49.5 percent were mixed infections and the most common pathogens were Staphylococcus spp coagulase negative or positive and Pseudomonas aeruginosa. The most effective antimicrobials for Staphylococcus coagulase negative were: the quinolones, the aminoglicoside netilmycin and the beta-lactams, excepted ampicillin, penicillin and oxacilin; for Staphylococcus coagulase positive were: cefotoxin, amoxicillin + clavulanic acid, imipenem, netilmycin and cephatoxin; for Pseudomonas aeruginosa were: ciprofloxacin, tobramycin and imipenem.

Onychomycosis in Ceará (Northeast Brazil): epidemiological and laboratory aspects

Knowledge of epidemiological and mycological characteristics of onychomycosis has been noted by many authors as being an important tool for control of these fungal infections. This study seeks to improve knowledge of onychomycosis epidemiology and mycological features. Samples were taken from infected fingernails and toenails of 976 patients undergoing treatment at a respected Dermatology Center in Ceará, Fortaleza, CE, Brazil. Specimens from 512 patients (52 percent) were positive for onychomycosis. From the culture-positive samples, yeasts of the genus Candida (C. albicans, C. tropicalis, C. krusei, C. parapsilosis) were dominant. The dermatophytes isolated (Trichophyton rubrum, T. tonsurans, T. mentagrophytes var. mentagrophytes) were dominant in 46 patients (12.99 percent). The mould Fusarium spp. was isolated from 29 patients (8.19 percent). Yeast of the genus Candida is the main causal factor in onychomycosis in our region. Also, the study showed the importance of performing direct examination and culture in diagnosis of onychomycosis.