Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

The combination of recessively inherited cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) was first reported by Jalili and Smith in 1988 in a family subsequently linked to a locus on chromosome 2q11, and it has since been reported in a second small family. We have identified five further ethnically diverse families cosegregating CRD and AI. Phenotypic characterization of teeth and visual function in the published and new families reveals a consistent syndrome in all seven families, and all link or are consistent with linkage to 2q11, confirming the existence of a genetically homogenous condition that we now propose to call Jalili syndrome. Using a positional-candidate approach, we have identified mutations in the CNNM4 gene, encoding a putative metal transporter, accounting for the condition in all seven families. Nine mutations are described in all, three missense, three terminations, two large deletions, and a single base insertion. We confirmed expression of Cnnm4 in the neural retina and in ameloblasts in the developing tooth, suggesting a hitherto unknown connection between tooth biomineralization and retinal function. The identification of CNNM4 as the causative gene for Jalili syndrome, characterized by syndromic CRD with AI, has the potential to provide new insights into the roles of metal transport in visual function and biomineralization

Comparison of the Level of Substance P and Neurokinin A in Gingival Crevicular Fluid of Sound and Symptomatic Carious Primary Teeth by ELISA

Objectives: Pulpal inflammation is often associated with odontogenic pain. Dental pulp is abundantly innervated with sensory fibers encompassing neuropeptides. Neurokinin A (NKA) and substance P (SP) are important neuropeptides in the dental pulp that can cause neurogenic inflammation. Since no previous study has assessed dental pulp neuropeptides in children, this study aimed to compare the level of NKA and SP in gingival crevicular fluid (GCF) of sound and symptomatic carious primary teeth. Materials and Methods: Samples of GCF were obtained of 20 sound and 20 painful carious primary teeth. Enzyme-linked immunosorbent assay (ELISA) was used to quantify neuropeptides in GCF. Data were analyzed using paired t-test, ANOVA, Kolmogorov-Smirnov test and correlation coefficient test. Results: A significant difference was noted in the level of NKA in GCF of painful and sound teeth (2.23 pg/ml in painful, and 1.84 pg/ml in sound teeth, P0.05). Conclusions: The results showed that the level of NKA and SP was higher in GCF of painful teeth compared to that of sound teeth. This difference was statistically significant with regard to NKA. Thus, these neuropeptides can serve as indicators for pathological activities in teeth with symptomatic irreversible pulpitis

Comparison of Shear Bond Strength of Composite to Primary and Permanent Enamel Using Dentin bonding and Enamel Bonding Agents

Background and Aim : Dentin bonding agents are gradually replacing enamel bonding agents in the clinical setting. Considering the different properties of these two materials, their bonding strength to enamel may be different.   The aim of this study was to compare the shear bond strength of composite restorations to enamel using dentin bonding and enamel bonding agents .   Materials and Methods : In this experimental study, buccal surfaces of 24 freshly extracted primary and permanent teeth were polished by the polishing papers in order to obtain a piece of flat enamel 3 mm in diameter. After etching, rinsing and drying the surfaces, the specimens were divided into 4 groups. Enamel bonding (Margin Bond) was applied to the surfaces of 6 primary and 6 permanent teeth and Single Bond was applied to the surfaces of the remaining teeth. All teeth were cured. Composite resin (3mm in diameter and 4 mm in height) was applied to the prepared surfaces. Then, the specimens were thermocycled for 2000 cycles and the shear bond strength was determined using an Instron universal testing machine. The findings were analyzed by SPSS and two-way ANOVA .   Results: There was no significant difference in the mean shear bond strength of the two groups of primary and permanent teeth (p=0.518). Also, no significant difference was found between enamel and dentin bonding agents in primary and permanent teeth (p =0.17 ).    Conclusion : The shear bond strength of composite to enamel was not significantly different between the primary and permanent teeth following the use of enamel or dentin bonding agents

The effect of curing time and curing method on microleakge of conservative adhesive resin restorations: an in vitro study

Background and Aims: Using the conservative adhesive resin restoration (CAR) in uncooperative children lead to numerous problems because of being time consuming. The purpose of this study was to compare the microleakage of conservative adhesive resin restoration under separate curing and co-curing.Materials and Methods: In this experimental study, 120 intact premolar teeth were collected and 120 vertical grooves were prepared on them. Then the teeth were divided into four groups: group 1, separated curing of bonding agent, flowable composite and sealant; group 2, co-curing of all materials for 60 seconds; group 3,co-curing of all materials for 40 seconds and group 4, co-curing of all materials for 20 seconds. Then the specimens were thermocycled and immersed in basic fuchsin solution. The teeth were sectioned horizontally and dye penetration was evaluated with stereomicroscope. Date were analyzed using one-way ANOVA and Scheffe test.Results: Mean value of dye penetration in groups 1, 2, 3, and 4 was 1.53±0.6, 2.06±0.6, 2.5±0.7 and 3.53±0.6, respectively. There was a statistically significant difference between group 1 and the other groups (P=0.0001).Conclusion: Considering the problems caused by microleakage in conservative resin adhesive restorations, co-curing method should not be used. In the case of using co-curing method, 60 second curing time is suggested for sufficient polymerization

The prevalence of bruxism and correlated factors in children referred to dental schools of Tehran, based on parents' report

Objective: Bruxism is defined as the habitual nonfunctional forceful contact between occlusal tooth surfaces. The aim of this study was to determine the prevalence of bruxism and correlated factors in children referred to dental schools of Tehran, based on parents′ report. Methods: This cross-sectional descriptive study was conducted on 600 4-12 year-old children with a mean age of 7.4±2.4 years, who were referred to four dental schools in Tehran. After collecting information with questionnaire filled out by parents, Xz, Fisher Test, Mann-Whitney and t-Test were used to analyze the data. Findings: The prevalence of bruxism was 26.2%. Bruxism begun in average at the age of 4.9±2 years. Also it occurred 2.6 times more in children who had a family history of bruxism (father-mother), compared to children who didn′t have such a history. 87% of children with bruxism had a history of distressing events in their life, and 13% of children with bruxism did not report any history of distressing events in their life. In this study most common oral habit was nail biting. In study of parasomnias, drooling was the most, and snoring the least reported sleep disorder. Bruxism in children with drooling was twice more than in other children. The prevalence of bruxism in children with temporomandibular disorder was 63.6% and in children without TM D was 24.7%. Conclusion: Based on parents′ report, 26.2% of children showed bruxism and there was a significant relation between bruxism and mother′s job, family history, distressing event in life, parasomnias, especially drooling and sleep walking, TMD, hyperactivity, depression, acrophobia and lygophobia

Epidemic size, trend and spatiotemporal mapping of SARS-CoV-2 using geographical information system in Alborz Province, Iran

Abstract Background The first confirmed cases of COVID-19 in Iran were reported in Qom city. Subsequently, the neighboring provinces and gradually all 31 provinces of Iran were involved. This study aimed to investigate the case fatility rate, basic reproductive number in different period of epidemic, projection of daily and cumulative incidence cases and also spatiotemporal mapping of SARS-CoV-2 in Alborz province, Iran. Methods A confirmed case of COVID-19 infection was defined as a case with a positive result of viral nucleic acid testing in respiratory specimens. Serial interval (SI) was fitted by gamma distribution and considered the likelihood-based R0 using a branching process with Poisson likelihood. Seven days average of cases, deaths, doubling times and CFRs used to draw smooth charts. kernel density tool in Arc GIS (Esri) software has been employed to compute hot spot area of the study site. Results The maximum-likelihood value of R0 was 2.88 (95%, CI: 2.57–3.23) in the early 14 days of epidemic. The case fatility rate for Alborz province (Iran) on March 10, was 8.33% (95%, CI:6.3–11), and by April 20, it had an increasing trend and reached 12.9% (95%,CI:11.5–14.4). The doubling time has been increasing from about two days and then reached about 97 days on April 20, 2020, which shows the slowdown in the spread rate of the disease. Also, from March 26 to April 2, 2020 the whole Geographical area of Karj city was almost affected by SARS-CoV-2. Conclusions The R0 of COVID-19 in Alborz province was substantially high at the beginning of the epidemic, but with preventive measures and public education and GIS based monitoring of the cases,it has been reduced to 1.19 within two months. This reduction highpoints the attainment of preventive measures in place, however we must be ready for any second epidemic waves during the next months