Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis.

OBJECTIVES: In congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA. METHODS: One hundred and forty-three CHA cases from 115 unrelated families referred for molecular analysis were enrolled in the study. Molecular analysis was performed using two different clinical exome panels in 130 patients, and whole-exome sequencing in nine patients. Exome-based CNV calling was incorporated into the traditional single-nucleotide variant and small insertion/deletion analysis pipeline for NGS data in 92 cases. In four patients from the same family, the PK Gypsy variant was investigated using long-range polymerase chain reaction. RESULTS: Molecular diagnosis was established in 86% of the study group. The most frequently mutated genes were SPTB (31.7%) and PKLR (28.5%). CNV analysis of 92 cases revealed that three patients had different sizes of large deletions in the SPTB and six patients had a deletion in the PKLR. CONCLUSIONS: In this study, NGS provided a high molecular diagnostic rate in cases with rare CHA. Analysis of the CNVs contributed to the diagnostic success.

Changes in oral health-related quality of life after treatment of molar incisor hypomineralisation using Glass Hybrid Restorations.

OBJECTIVE: To assess the changes in children's oral health-related quality of life following the treatment of severely affected molar-incisor hypomineralisation with Glass Hybrid Restorative System (GH) after selective caries removal. METHODS: The observational cross-sectional study was conducted at the Marmara University, School of Dentistry, Department of Pediatric Dentistry, Istanbul, Turkey.. Children aged 11-14 years (n = 55) who were diagnosed with MIH and had finished their dental treatment from November 2018 to December 2019, were included. The children's MIH-affected teeth were treated with GH after SCR. Participants answered the Child Perceptions Questionnaire (CPQ11?14) prior to their dental treatment and 6 months after the treatment. RESULTS: Of the fifty-five patients, 40 patients (24 girls-16 boys) completed baseline and follow-up data. The mean age of the children was 11.85 ±1.02 years. The overall CPQ score ranged from 3-83 (average 33.27 ± 16.46) at baseline and 0-61 (average 11.67 ± 11.21) at follow up. The emotional well-being among children was the highest score at baseline. A significant decrease (p < 0.001) in the mean values was observed for both the overall CPQ scores and for the scores of the oral symptoms, functional limitations, and social-emotional well-being limitation. All subdomains showed large effect sizes and oral symptom limitation domain presented the greatest effect. Wilcoxon Rank test was used to determine the statistical significance of the changes and the magnitude of change was determined by calculating and classifying the effect size. CONCLUSIONS: Restorative treatment with GH following selective caries removal positively influenced the oral health-related quality of life of children with severe molar-incisor hypomineralisation.

Two-Year Survival of High-Viscosity Glass Ionomer in Children with Molar Incisor Hypomineralization.

OBJECTIVE: We assessed the clinical survival of a high-viscosity glass ionomer (HVGI) at the 2-year follow-up to restore molar incisors severely affected by hypomineralization after selective carious tissue removal (SCR). The null hypothesis tested was that there are no differences in the overall survival times in the categories of the variables of interest. METHODS: A total of 134 fully erupted first molar incisors with hypomineralization, cavitated and with moderate-to-deep carious lesions without hypersensitivity or pain (MIH treatment need index 2a-c), were included in the study. HVGI (Equia Forte®; GC, Tokyo, Japan) restorations were applied after SCR to soft carious dentin. The follow-up lasted 2 years. The end point was defined as the absence of endodontic and restorative complications. Two-year, and 18-, 12-, and 6-month survival probabilities and standard errors were calculated using the Kaplan-Meier method. Survival probabilities according to patient gender, jaw, and lesion severity groups were compared using the log-rank test. Restorations were evaluated using the modified US Public Health Service criteria. RESULTS: HVGI restorations showed cumulative survival probabilities of 95.5% at 6 months, 94% at 12 months, 87.5% at 18 months, and 87.5% at 24 months. Survival probabilities according to patient gender, jaw, and lesion severity groups were not statistically significantly different (p > 0.05). Therefore, the null hypothesis was accepted. CONCLUSION: Following SCR, HVGI restoration provided moderate survival probabilities, suggesting that the SCR technique is effective.

Clinical Evaluation of a Fissure Sealant Placed by Acid Etching or Er:YAG Laser Combined with Acid Etching.

PURPOSE: To evaluate the efficacy of conventional acid etching alone (acid etching) and Er:YAG laser combined with acid etching (laser + acid etching) on fissure sealant (FS) retention of first permanent molars (FPMs) after 18 months. MATERIALS AND METHODS: Using a split-mouth design in 51 children, a total of 204 FPMs were sealed with acid etching alone or laser plus acid etching (laser+acid). The retention of sealants and occurrence of caries were evaluated at 3, 6, 12, and 18 months. Statistical analysis was performed using Pearson's chi-squared tests. RESULTS: The retention rate for FS in the laser+acid group was significantly higher than that of the acid-etch group at 12 (p = 0.0161) and 18 (p = 0.0227) months. Six FSs in the acid group and five FSs in the laser+acid group were completely lost after 18 months. The incidence of caries in the acid-etch group was 22% (n = 18) vs 10% (n = 8) in the laser+acid group at 18 months. The difference in caries development between the groups was not significant (p > 0.05). CONCLUSIONS: As enamel pretreatment, Er:YAG laser combined with acid etching significantly improves FS retention over conventional acid etching alone.

Effect of casein phosphopeptide amorphous calcium fluoride phosphate and calcium glycerophosphate on incisors with molar-incisor hypomineralization: A cross-over, randomized clinical trial.

BACKGROUND: Within the scope of minimally invasive dentistry, the use of different biocompatible remineralization agents on incisors affected by molar-incisor hypomineralization (MIH) gains importance. OBJECTIVE: To evaluate the effect of casein phosphopeptide amorphous calcium fluoride phosphate (CPP-ACFP) and calcium glycerophosphate (CaGP) in mineral density (MD) of white/creamy and yellow/brown demarcated opacities on incisors affected by MIH by means laser fluorescence (LF). METHODS: As a cross-over, randomized trial, twenty-two children with 167 incisors affected by MIH were recruited and randomly assigned to one of the two different agents and crossed over to other agents with two weeks washout in between. Incisors were examined by using LF at all before and after three months periods. RESULTS: The results of the paired t-tests for determining the period effect between the baseline findings showed significant difference in white/creamy and yellow/brown demarcated opacities of LF values for both groups (p < 0.05). The difference between both groups according to after categorization of 20% increasing in MD in the percent of change before and after application on LF values; was not found statistically significant in white/creamy (p = 0.970) and yellow/brown (p = 0.948) opacities. CONCLUSIONS: The primary outcome was CPP-ACFP and CaGP had a positive effect in decreasing hypomineralization on MIH-affected enamel for three months period.

The Effect of Geraniol on Liver Regeneration After Hepatectomy in Rats.

Geraniol is a monoterpenoid alcohol that has a hepatoprotective effect. We investigated the regenerative effects of geraniol in rats after a 70% partial hepatectomy (PH). Using Wistar albino rats, nine groups were created: Group I was the control group, while the remaining groups received a single intraperitoneal dose of saline, Silymarin, or geraniol after PH. A 70% PH was performed on all groups except for groups II and III. Blood serum samples were obtained for alanine amino transferase (ALT) analysis. Then liver tissues were harvested for histological and real-time polymerase chain reaction (PCR) analyses. Tumor necrosis factor-α (TNFα) and interleukin 6 (IL6) gene expression were examined 24 and 48 h after PH. ALT levels were found to be statistically significantly increased in all PH-treated groups. TNFα and IL6 gene expression levels were elevated in geraniol-treated groups. Histological evaluation revealed a hepatoprotective effect for geraniol-treated groups. Our results suggest that geraniol plays a significant role during liver regeneration, which involves the elevated expression of TNFα and IL6 48 h after PH.

In vivo evaluation of the treatment outcome of pulpotomy in primary molars using diode laser, formocresol, and ferric sulphate.

OBJECTIVE: The purpose of this study was to assess whether the diode laser (DL) pulpotomy method is a suitable alternative to formocresol (FC) and ferric sulphate (FS) pulpotomies in human primary teeth. BACKGROUND DATA: Pulpotomy is the amputation of infected coronal pulp to maintain radicular pulp vitality and function. Although FC is regarded as the gold standard for pulpotomy in primary teeth, concerns about its safety have been reported. Lasers are an effective nonpharmacological alternative for treating pulp in children. METHODS: This study included 120 primary molars in 58 children 5-9 years of age who underwent an identical conventional pulpotomy technique; the molars were allocated to FC, FS, and DL groups. After removal of the coronal tissue, complete hemostasis of the remaining pulp in the DL group was achieved by DL at 1.5 W, 30 Hz, and 50 mJ, with a 10 sec exposure time. For the FC group, diluted FC (1:5 Buckley's formocresol) was used for 5 min., and for the FS group, a 15.5% FS solution was used for 15 sec. Treatments in all groups were completed with stainless steel crowns and monitored clinically and radiographically at 1, 3, 6, 9, and 12 months. RESULTS: The clinical success rates at 12 months were 97%, 95%, and 100%, whereas the radiographic success rates were 87%, 79%, and 75%, for the FC, FS and DL groups, respectively. The differences in the results were not statistically significant according to the χ(2) test (p>0.05). CONCLUSIONS: DL pulpotomy offers a high clinical success rate, however considering radiographic success rate, it may not replace traditional FC and FS pulpotomies in primary molars.

Outcome of a dentigerous cyst following decompression using a removable appliance: a case report.

A dentigerous cyst is a benign odontogenic cyst that is associated with the crown of an unerupted permanent tooth. This report describes a conservative approach to treatment using a customised removable appliance for managing a large dentigerous cyst in a 7-year-old female. At the 2-year follow-up, healing of the lesion and ossification of the bony defect was observed.