Tumor Cells-derived exosomal CircRNAs: Novel cancer drivers, molecular mechanisms, and clinical opportunities.

Recently, circular RNAs (circRNAs) have appealed to a growing interest due to their abundant expression and potential functions in cancer development. The most biological function of circRNAs may include acting as a sponge for miRNAs and proteins in different physio/pathological conditions. CircRNAs promote cancer progression by regulating several procedures such as growth, invasion, metastasis, angiogenesis, and drug resistance. Emerging evidence has shown that circRNAs frequently have tumor-specific expression, proposing these molecules serve as diagnostic and prognostic cancer biomarkers. Furthermore, circRNAs may be used as a potential target for the treatment of cancers as they can sponge oncogenic miRNAs and proteins. Exosomes, a subtype of extracellular vesicles mediate intercellular communication, contain circRNAs and deliver them to target cells inducing cancer development through different signaling pathways. Exosomal circRNAs may serve as a diagnostic and prognostic biomarker for cancers. Targeting exosomes may represent novel approaches for the treatment of cancers through using them as cell-free therapy and drug-delivery system and inhibiting their biogenesis and distribution. However, research on circRNAs biology is advancing and some concerns such as technical issues in the characterization and analysis of circRNAs along with biological understanding gaps necessary to be considered to transfer this undeveloped field to the vanguard of clinical studies. In this review, we discuss the existing information on the formation of circRNA and its roles in the tumor as a biomarker and treatment target. Furthermore, we describe tumor-derived exosomes enclosed circRNAs and their possible roles in cancer development and their potential as biomarkers and therapeutic approaches.

A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis.

A novel splice site mutation in the GTPBP2 gene was identified by whole-exome sequencing in two siblings with microcephaly and progressive generalized muscular atrophy associated with hypotrichosis.

Report of a Novel Splicing Mutation in the MYO15A Gene in a Patient With Sensorineural Hearing Loss and Spectrum of the MYO15A Mutations.

INTRODUCTION: Autosomal recessive non-syndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder with an approximate incidence of 1.4:1000 in neonates. Mutations in more than 60 genes including the MYO15A gene has been reported in patients affected with ARNSHL. In the present study, we report a novel MYO15A mutation identified by clinical exome sequencing and confirmed by Sanger sequencing in a consanguineous Iranian family with ARNSHL. CASE PRESENTATION: A 22-year-old woman with congenital non-syndromic sensorineural hearing loss referred to our medical genetic center. Her parents were consanguineous with F = 1/16 (first cousin), and clinical examination of the patient exclude dysmorphic features. Sanger sequencing of GJB2 and GJB6 genes, which are the most common causes of ARNSHL, was negative. Then she underwent clinical exome sequencing. OUTCOME: We found a novel homozygote variant (c.9611_9612+8delTGGTGAGCAT) in the MYO15A gene which creates a shift in the reading frame starting at codon 3204. This variant was confirmed by Sanger sequencing in the patient and also in her parents who were heterozygous. DISCUSSION: The present results suggest that the homozygous MYO15A (c.9611_9612+8delTGGTGAGCAT) variant is a pathogenic mutation and to the best of our knowledge, this mutation has not been reported in any database.

A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42.

We report a case of partial deletion of 9p with partial trisomy of 1q42 syndrome, which is a rare clinical and cytogenetic report. The dysmorphic features of the patient include microcephaly, plagiocephaly, trigonocephaly with metopic ridge, arched eyebrows, hypertelorism, down-slanting palpebral fissure, ptosis, blepharophimosis, unilateral left epicanthic fold, long eyelashes, low-set and posteriorly rotated ears, long philtrum, anteverted nares, retrognathia and unilateral undescended testis. Chromosomal analysis revealed partial monosomy of 9p24 associated with partial trisomy of 1q42q>ter.

Calcium carbonate precipitation by strain Bacillus licheniformis AK01, newly isolated from loamy soil: a promising alternative for sealing cement-based materials.

The relevant experiments were designed to determine the ability of indigenous bacterial strains isolated from limestone caves, mineral springs, and loamy soils to induce calcium carbonate precipitation. Among all isolates examined in this study, an efficient carbonate-precipitating soil bacterium was selected from among the isolates and identified by 16S rRNA gene sequences as Bacillus licheniformis AK01. The ureolytic isolate was able to grow well on alkaline carbonate-precipitation medium and precipitate calcium carbonate more than 1 g L(-1). Fourier transform infrared (FTIR) spectroscopy, X-ray diffraction (XRD) analyses, and scanning electron microscopy (SEM)/energy-dispersive X-ray spectroscopy (EDX) examinations were performed in order to confirm the presence of calcium carbonate in the precipitate and to determine which polymorphs were present. The selected isolate was determined to be an appropriate candidate for application in a surface treatment of cement-based material to improve the properties of the mortar. Biodeposition of a layer of calcite on the surface of cement specimens resulted in filling in pore spaces. This could be an alternative method to improve the durability of the mortar. The kind of bacterial culture and medium composition had a profound impact on the resultant CaCO(3) crystal morphology.

A novel aspartoacylase (ASPA) gene mutation in Canavan disease.

Canavan disease is a severe autosomal recessive leukodystrophy characterized by macrocephaly, ataxia, severe motor and mental retardation, dysmyelination, and progressive spongial atrophy of the brain. The human aspartoacylase (ASPA) gene, which catalyzes the deacetylation of N-acetyl-L-aspartate, is mutated in Canavan disease. In the presented family sequencing analysis for the aspartoacylase gene was performed on the blood samples of the parents as the affected child had died due to Canavan disease. After the mutation was detected, prenatal diagnosis was also performed and heterozygous Y88X mutation was detected in the fetus. In this report, we present a novel mutation Y88X within the aspartoacylase gene in a consanguineous family with an affected child diagnosed as Canavan disease.

Interview with parents of children with Down syndrome: their perceptions and feelings.

OBJECTIVE: To obtain information about the life of the families having children with Down Syndrome through an interview with parents. The authors focused on the effect of having a child with Down syndrome on the parents, factors causing problems on the family and the characteristics of a family with children having Down syndrome. METHODS: In the present study, the authors evaluated the social, economic and individual problems of the parents (n = 100) who had a child with DS by an interview consisting of 16 questions about the families' characteristics, their relations with each other and other people and their attitudes towards the child with DS . The control group consisted of 100 subjects having healthy children who were recruited from the outpatient clinics of the same hospital. RESULTS: The authors found that children with DS mostly spend their time with their mothers, and mothers reported higher levels of stress than fathers. The rate of mothers who reported higher possibility to divorce in the future is much higher than fathers (p < 0.05). CONCLUSIONS: High rates of marital and parental problems, particularly perceived by the mothers, observed in this study are the main issues which should be considered during the assessment of those children in order to cope with the problems and improve both patients' and families' life quality.