Clinical Study An Evaluation of Effects of Different Mydriatics on Choroidal Thickness by Examining Anterior Chamber Parameters: The Scheimpflug Imaging and Enhanced Depth Imaging-OCT Study

Aim. To assess the effects of mydriatics commonly used in clinical practice on choroidal thickness and anterior chamber change. Methods. This was a prospective, randomized, controlled, double-blinded study including a single eye of the participants. The subjects were assigned into 4 groups to receive tropicamide 1%, phenylephrine 2.5%, cyclopentolate 1%, and artificial tears. At the baseline, anterior chamber parameters were assessed using a Pentacam Scheimpflug camera system, and choroidal thickness (CT) was measured using a spectral-domain OCT with Enhanced Depth Imaging (EDI) modality. All measurements were repeated again after drug administration. Results. Increases in pupil diameter, volume, and depth of anterior chamber were found to be significant ( = 0.000, = 0.000, and = 0.000, resp.), while decreases in the choroidal thickness were found to be significant in subjects receiving mydriatics ( < 0.05). Conclusions. The study has shown that while cyclopentolate, tropicamide, and phenylephrine cause a decrease in choroidal thickness, they also lead to an increase in the volume and depth of anterior chamber. However, no correlation was detected between anterior chamber parameters and choroidal changes after drug administration. These findings suggest that the mydriatics may affect the choroidal thickness regardless of anterior chamber parameters. This study was registered with trial registration number 2014/357

Detection of Novel NF1 Variants with Next-Generation DNA Sequencing Technology and Genotype-Phenotype Characteristics of Neurofibromatosis

MakaleWOS:000925992500001Objective: Neurofibromatosis type 1 (NF1, #162200) is a common neurological disorder with de novo or inherited germline mutations of the Neurofibromin (NF1, *613113). The purpose of this study is to increase the limited knowledge of NF1 in a small population-based dataset. Materials and Methods: This study enrolled patients with clinically suspected NF1 referred to the Kayseri Training and Research Hospital, Medical Genetics Department, between 2015 and 2017. The local ethics committee approved this study. Next-generation sequencing was performed for the genetic analysis. The genetic, demographic, and clinical features of the participants were characterized. Results: A total of 79 cases of NF1 were included. Of these cases, 40 were male, and 39 were female. The mean age was 11.9 years, and most were younger than 18 years. The most common complaint was cafe au lait macules. The 61 (77.3%) patients had pathogenic variants, and 16 (26.2%) were novel. Mostly affected mutation sites were exonic regions (n=54, 88.5%). The most common mutated exon was exon 38 (n=7, 11.5%), and most of the detected mutations were nonsense mutations (31%). Conclusion: It is one of Turkiye's largest NF1 study groups, where all exons of the NF1 gene were analyzed. This study contributes novel variants to the literature. There was no mutational hotspot region, and no significant relationship between genotype and phenotype was observed. Further studies and large sample sizes are required to better understand the relationship between NF and genetic changes

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking

Charcot-Marie-Tooth type 4 (CMT4) is an autosomal recessive severe form of neuropathy with genetic heterogeneity. CMT4B1 is caused by mutations in the myotubularin-related 2 (MTMR2) gene and as a member of the myotubularin family, the MTMR2 protein is crucial for the modulation of membrane trafficking. To enable future clinical trials, we performed a detailed review of the published cases with MTMR2 mutations and describe four novel cases identified through whole-exome sequencing (WES). The four unrelated families harbor novel homozygous mutations in MTMR2 (NM_016156, Family 1: c.1490dupC; p.Phe498IlefsTer2; Family 2: c.1479+1G>A; Family 3: c.1090C>T; p.Arg364Ter; Family 4: c.883C>T; p.Arg295Ter) and present with CMT4B1-related severe early-onset motor and sensory neuropathy, generalized muscle atrophy, facial and bulbar weakness, and pes cavus deformity. The clinical description of the new mutations reported here overlap with previously reported CMT4B1 phenotypes caused by mutations in the phosphatase domain of MTMR2, suggesting that nonsense MTMR2 mutations, which are predicted to result in loss or disruption of the phosphatase domain, are associated with a severe phenotype and loss of independent ambulation by the early twenties. Whereas the few reported missense mutations and also those truncating mutations occurring at the C-terminus after the phosphatase domain cause a rather mild phenotype and patients were still ambulatory above the age 30 years. Charcot-Marie-Tooth neuropathy and Centronuclear Myopathy causing mutations have been shown to occur in proteins involved in membrane remodeling and trafficking pathway mediated by phosphoinositides. Earlier studies have showing the rescue of MTM1 myopathy by MTMR2 overexpression, emphasize the importance of maintaining the phosphoinositides equilibrium and highlight a potential compensatory mechanism amongst members of this pathway. This proved that the regulation of expression of these proteins involved in the membrane remodeling pathway may compensate each other's loss- or gain-of-function mutations by restoring the phosphoinositides equilibrium. This provides a potential therapeutic strategy for neuromuscular diseases resulting from mutations in the membrane remodeling pathway

Comparison of success rate of dental implants placed in autogenous bone graft regenerated areas and pristine bone

Autogenous bone grafting still has been considered as the "gold standard" and wildly used in the case of alveolar bone reconstruction. The aim of the present study is to evaluate the success rate of implants placed in autogenous block augmented ridges and implants placed in pristine bone (PB). This study included 113 patients. Fifty-three patients were treated with autogenous block grafts and particulate bone, after 6 months of healing implant placements were performed in autogenous bone augmented (ABA) areas. In 60 patients implant placement was performed, with no need for grafting and implants were placed into the PB. Follow-up data (pain, mobility, exudation from peri-implant space, success rate, marginal bone resorption) were collected after 5 years of prosthetic loading. The cumulative implant success rate at the 5-year examination was 92.45% for the ABA group and 85% for PB group. There were 3 failed implants in the ABA group and 3 in PB group. Average marginal bone loss was 1.47 mm on ABA group and 1.58 mm on PB group. No statistically significant differences for pain, exudation from peri-implant space, implant mobility, implant success, peri-implant bone loss parameters, and patient satisfaction level were found between groups. The obtained data demonstrated that the success rate of implants placed in regenerated areas are very similar to the success rate of implants those placed in PB

Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel <i>CRPPA</i> mutation in different clinical manifestations.

Purpose: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy and severe brain and eye malformations. This study aims to analyze genotype-phenotype correlations in WWS with a novel cytidine diphosphate-l-ribitol pyrophosphorylase A (CRPPA) mutation in different clinical manifestations. Case description: We report a girl with a presentation of multiple brain and ocular anomalies. Her ophthalmological evaluation showed a shallow anterior chamber, cortical cataract, iris hypoplasia, persistent hyperplastic primary vitreous in the right eye, punctate cataract, iris hypoplasia, primary congenital glaucoma, and a widespread loss of fundus pigmentation in the left eye. She was hypotonic, and her deep tendon reflexes were absent. Laboratory investigations showed high serum levels of serum creatine kinase. Brain magnetic resonance imaging demonstrated hydrocephalus, agenesis of the corpus callosum, retrocerebellar cyst, cerebellar dysplasia and hypoplasia, cobblestone lissencephaly, and hypoplastic brainstem. Whole exome sequencing revealed a novel homozygous nonsense mutation in the first exon of the CRPPA gene (NM_001101426.4, c.217G>T, p.Glu73Ter). Conclusions: The study findings expand the phenotypic variability of the ocular manifestations in the CRPPA gene-related WWS. Iris hypoplasia can be a part of clinical manifestations of the CRPPA gene-related WWS. The uncovering of the genes associated with ocular features can provide preventative methods, early diagnosis, and improved therapeutic strategies