The prevalence of <Emphasis Type="Italic">Chlamydia trachomatis</Emphasis> and <Emphasis Type="Italic">Neisseria gonorrhoeae</Emphasis> in the endocervical swab specimens of symptomatic,asymptomatic and infertile women in Turkey

Purpose  

To investigate C. trachomatis and N. gonorrhoeae prevalence in three different female populations in Turkey.     

Does Correction of Strabismus Improve Quality of Life in Children with Autism Spectrum Disorder: Results of a Parent Survey by Ophthalmologists

Purpose: Ophthalmic problems are reported to be common in children with autism spectrum disorder (ASD), and strabismus is of particular importance. We aimed to investigate the outcomes of strabismus management in cases with ASD and identify the impact of optical or surgical correction of the strabismus on the child using a questionnaire for parents. Methods: A survey was designed to assess parents’ perceptions of pre-management and post-management quality of life in 41 children aged 5–17 years with ASD and strabismus using a questionnaire with 10 questions, including three subscales. Results: Significant improvements were noted after management in functional limitations (P < 0.01), psychosocial interactions (P < 0.01), and ocular alignment (P < 0.01) subscales. Conclusion: This is the first study of the literature that investigated the impact of ocular re-alignment on behavioral patterns and social interactions of children with ASD and strabismus.     

Ocular Disorders in Turkish Children with Sensorineural Hearıng Loss: A Cross-Sectional Study and Literature Review

Purpose: To investigate types and frequencies of ocular disorders in children with sensorineural hearing loss (SNHL), and to emphasize the importance of ophthalmological examination in these children. Methods: A retrospective analysis of the examination records of children examined in our instutititon between January 2011 and September 2014 was performed. Ocular disorders of children with SHNL were selectively reviewed. Results: Among 55340 patients, SNHL was present in 110 (0.2%). SNHL was bilateral in 104 patients (94.5%) and unilateral in 6 (5.5%). Ninety-one cases had congenital hearing loss (83%), and 19 (17%) had acquired SNHL. Forty cases (36%) had an ocular disorder, either refractive or non-refractive or both. Seventy cases (64%) had normal ocular examination. No difference was found between congenital or acquired SNHL cases in terms of possessing an ocular disorder (p=0.0962). The most common ocular abnormality was refractive error, mainly hypermetropia (21%). There was no significant difference between the prevalences of ocular abnormalities among cases with different lateralites or severities of SNHL (p=0.051, p=0.874, respectively). Twenty-six cases (23.6%) had SNHL as a component of a genetically defined syndrome. All of them had coexisting refractive or non-refractive ocular abnormalities. Some genetic, non-syndromic abnormalities, including Achondroplasia, Celiac disease, and focal segmental glomerulosclerosis, were diagnosed in four cases, among whom refractive errors and/or strabismus were detected. Conclusions: Due to the common coexistence of ocular problems and SNHL in children, ophthalmological screening is crucial. Families and healthcare providers should be informed about the critical role of ophthalmic assesment in these children for their future quality of life.     

Dual BRCA1 and BRCA2 pathogenic variants in an adolescent with syndromic intellectual disability

Pathogenic variants in the BRCA1 and BRCA2 genes are associated with increased risk for breast and ovarian cancers. Concurrent mutations in both genes in the same individual are rare but pose specific challenges when identified, usually through multigene panel testing or infrequently from a genome‐wide analysis, such as whole‐exome sequencing (WES). We present a 15‐year‐old female patient with syndromic intellectual disability whose exome reanalysis identified secondary findings of pathogenic BRCA1 and BRCA2 variants, both inherited paternally. We discuss the significant challenges posed by this finding in genetic counseling and cancer risk management of an adolescent with nonverbal intellectual disability, as well as the impact on their family. This rare case highlights the potential increased diagnostic yield of whole exome sequencing reanalysis and the consequences of secondary medically actionable results in a pediatric patient.     

Effect of antioxidant lycopene on human osteoblasts

Clinical Oral Investigations - The aim of this in vitro study is to evaluate the effect of antioxidant lycopene on human osteoblasts. The human osteoblast cell line (CRL-11372) was obtained from...