Introduction: The styloid process (SP) is an anatomical structure whose clinical importance is not well understood. Aims and Objectives: This study aimed to study the type of SP as per Langlais′ ...classification and to assess the feasibility of digital panoramic radiographs in measuring the length of SP. Materials and Methods: Eighty digital panoramic radiographs of patients with dental problems were retrieved from archives of our department as soft copies. The radiographs were taken using a digital panoramic system. The radiographic length of SP was measured on both sides using measurement toolbars on accompanying analysis software. The type of elongation patterns of SP was classified as per Langlais′ classification. Finally, the data were subjected to statistical analysis. Results: The average length of the left and right side SPs was 29.1882 ± 6.86 and 28.16 ± 6.44, respectively. Majority of patients were found to be asymptomatic, and Langlais′ Type I elongated SP was more common than others. Conclusion: Digital panoramic radiographs are valuable tools in early detection of elongated SP. Digital radiographs help in avoiding a misdiagnosis of tonsillar pain or pain of dental, pharyngeal, or muscular region.
The role of oxygen free radicals in the initiation, promotion and progression of carcinogenesis and the protective role of anti-oxidant defenses have been the subject of much speculation in the ...recent past with conflicting reports in the literature.
The aim of this study was to measure the concentration/levels of serum total proteins, albumin and advanced oxidation protein products as markers of oxidative stress in sera of patients with an oral pre-cancerous lesion and frank oral cancer.
The study consisted of sera analysis of 30 new patients of histologically proven well-differentiated, oral squamous cell carcinoma and 10 patients, clinically diagnosed with a potentially malignant epithelial lesion, speckled leukoplakia, aged between 40 to 60 years, in addition to 25 healthy controls. One way analyses of variance were used to test the difference between groups. The normality of data was checked before the statistical analysis was performed.
The study revealed variations in sera levels of albumin and advanced oxidation protein products to be statistically significant (p<0.001).
The results obtained emphasize the need for more studies with larger sample sizes to be conducted before a conclusive role could be drawn in favour of sera levels of total protein, albumin and advanced oxidation protein products as markers of diagnostic significance and of the transition from the various oral pre-cancerous lesions and conditions into frank oral cancers.
Juvenile ossifying fibroma is considered a unique entity occurring primarily in children and adolescents. Although a benign neoplasm of bone origin, it is an aggressive variant of ossifying fibroma ...of the jaws. On account of the variable clinical behavior, a highly aggressive nature, and a high tendency for recurrence, early detection and prompt treatment is required. This report presents a case of juvenile ossifying fibroma in an eight-year-old girl, who reported to our institution with a gradually progressive swelling on the left side of her face since nine months, with typical clinical, radiological, and histopathological features.
Introduction: Chronic renal failure (CRF) is an important health problem worldwide with a tendency of annual progression. Renal failure could alter the balance of the stomatognathic system, thus ...conditioning the prevalence of oral diseases at its different stages. Researchers estimate that up to 90% of renal patients show oral manifestations and a wide range of bony anomalies accounting for 92% of the patients. Aims and Objectives: The aim and objective of this study was to evaluate radiographic manifestations in CRF patients and compare the findings between the stages of CRF. Materials and Methods: A longitudinal study on fifty CRF patients was conducted. Patients were divided into three stages depending on the severity of renal failure. Orthopantomograph was taken for all the subjects. Results: The study showed that 88% of the study group had positive radiographic findings. Stage IV renal failure patients had more severe manifestations as compared to Stages II and III. Conclusion: Majority of the patients had positive radiographic findings which can be one of the diagnostic markers in CRF patients.
Aims and Objectives: Thalassemia is the most common gene disorder caused by mutations that decrease the rate of synthesis of α- or β-globin chains. Every year approximately 100,000 children with ...thalassemia major are born the world over, of which 10,000 are born in India. This study aimed to compare the radiographic findings of jaws and teeth, as well as crown body and root lengths of the mandibular first permanent molar in thalassemia major patients. Materials and Methods: Panoramic radiographs of 50 thalassemia major patients and 50 controls were made. The radiological changes in the jaws and teeth and the dimensional changes in the teeth were evaluated and compared between the two groups. Two observers were involved in evaluating the specific changes and findings were subjected to statistical analysis using chi-square test (χ2 ) test. Differences in crown body height, root length, and crown:root (C:R) ratio were found using independent t-test. Results: A significant difference was found between the two groups in the occurrence of short spiky roots, taurodontism, faint lamina dura, large bone marrow spaces, obliteration of maxillary sinus (haziness), indistinct inferior alveolar canal, thin mandibular cortex (P < 0.001), nutrient canals (P < 0.02), and between mean crown body and root values of the two groups (P < 0.05). However, there was no statistically significant difference in prominent antegonial notch (P = 0.860) and C:R ratio (P = 0.989). Conclusion: Taurodonts, short spiky roots, thin mandibular cortex, enlarged bone marrow spaces, and obliterated maxillary sinuses were found to occur with high frequency in thalassemia major, followed by indistinct inferior alveolar canal and attenuated lamina dura.
Sequence analysis of the coding regions and splice site sequences in inherited retinal diseases is not able to uncover ∼40% of the causal variants. Whole-genome sequencing can identify most of the ...non-coding variants, but their interpretation is still very challenging, in particular when the relevant gene is expressed in a tissue-specific manner. Deep-intronic variants in ABCA4 have been associated with autosomal-recessive Stargardt disease (STGD1), but the exact pathogenic mechanism is unknown. By generating photoreceptor precursor cells (PPCs) from fibroblasts obtained from individuals with STGD1, we demonstrated that two neighboring deep-intronic ABCA4 variants (c.4539+2001G>A and c.4539+2028C>T) result in a retina-specific 345-nt pseudoexon insertion (predicted protein change: p.Arg1514Leufs∗36), likely due to the creation of exonic enhancers. Administration of antisense oligonucleotides (AONs) targeting the 345-nt pseudoexon can significantly rescue the splicing defect observed in PPCs of two individuals with these mutations. Intriguingly, an AON that is complementary to c.4539+2001G>A rescued the splicing defect only in PPCs derived from an individual with STGD1 with this but not the other mutation, demonstrating the high specificity of AONs. In addition, a single AON molecule rescued splicing defects associated with different neighboring mutations, thereby providing new strategies for the treatment of persons with STGD1. As many genes associated with human genetic conditions are expressed in specific tissues and pre-mRNA splicing may also rely on organ-specific factors, our approach to investigate and treat splicing variants using differentiated cells derived from individuals with STGD1 can be applied to any tissue of interest.
Stargardt disease is caused by variants in the
gene, a significant part of which are noncanonical splice site (NCSS) variants. In case a gene of interest is not expressed in available somatic cells, ...small genomic fragments carrying potential disease-associated variants are tested for splice abnormalities using in vitro splice assays. We recently discovered that when using small minigenes lacking the proper genomic context, in vitro results do not correlate with splice defects observed in patient cells. We therefore devised a novel strategy in which a bacterial artificial chromosome was employed to generate midigenes, splice vectors of varying lengths (up to 11.7 kb) covering almost the entire
gene. These midigenes were used to analyze the effect of all 44 reported and three novel NCSS variants on
pre-mRNA splicing. Intriguingly, multi-exon skipping events were observed, as well as exon elongation and intron retention. The analysis of all reported NCSS variants in
allowed us to reveal the nature of aberrant splicing events and to classify the severity of these mutations based on the residual fraction of wild-type mRNA. Our strategy to generate large overlapping splice vectors carrying multiple exons, creating a toolbox for robust and high-throughput analysis of splice variants, can be applied to all human genes.
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