Patient's Perception on the Esthetic Outcome of Anterior Fixed Prosthetic Treatment.

OVERVIEW: Patient's perception to the esthetic result of the treatment received can be different from a dentist opinion. Understanding patient's opinion, demand and expectation is part of successful treatment procedure. OBJECTIVE: The purpose of this study was to investigate patient's opinion about the esthetic result of the fixed prosthetic treatment received in upper anterior teeth. MATERIALS AND METHODS: About 90 volunteer subjects, 58 males and 32 females were given a self-evaluation questionnaire with 11 questions to respond as Yes or No. The questions regarded the esthetic result of a fixed prosthodontic treatment received for their upper anterior teeth. The same questioner was completed for each subject by three clinicians through clinical photographs for different views of subject's smile. Agreement between patients and clinicians was calculated for all subjects to evaluate patient's perception to their esthetic results. RESULTS: An agreement of 47.8 to 72.2% was observed between patients and clinicians, and the average agreement was 53.64 to 60%. The highest agreement was related to satisfaction with the color of the crown and/or bridge margin while the least agreement was related to the satisfaction with the natural looking of the restoration. CONCLUSION: There was variability in the agreement between the patients and the dentists with the satisfaction of the esthetic result of anterior restoration. Factor, such as gender, age and educational level may affect the results of the agreement.

NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination.

Nephronophthisis (NPHP) is a group of rare inherited ciliopathy disorders characterized by the multicystic dysplastic kidney, oligohydramnios, and tubulointerstitial nephritis that progresses to end-stage renal disease (ESRD). NPHP is a clinically and genetically heterogeneous disorder with extrarenal symptoms including skeletal deformities, nervous system anomalies, and ophthalmologic features. Three clinical subtypes, infantile, juvenile, and adolescent, have been recognized based on age of onset of ESRD. Infantile nephronophthisis with asphyxiating thoracic dystrophy is a very rare association. Here, we investigated a consanguineous family having two neonates with a clinical phenotype of lethal infantile NPHP associated with asphyxiating thoracic dystrophy. Whole exome sequence data analysis identified a splice acceptor site variant (Chr3-132408107-CCT-C; NM_153240.4: c.2694-2_2694-1del) in the NPHP3 gene. The segregation of a variant in the family was confirmed by Sanger sequencing. The lethal phenotype in our case might be due to respiratory insufficiency secondary to a severely restricted thoracic cage. Present work is an exclusive depiction of lethal infantile NPHP phenotype in association with asphyxiating thoracic dystrophy that has not been reported before in families segregating NPHP3 mutations. Moreover, this work expands the phenotypic spectrum of NPHP3 variants. Overall, our findings add to the increasing body of evidence that mutations in ciliary genes/proteins show pleiotropic effects with phenotypic overlap between related disorders and apparently unrelated clinical entities.