Bone is a specialized form of connective tissue, which is mineralized and made up of approximately 28% type I collagen and 5% noncollagenous matrix proteins. The properties of bone are very remarkable, because it is a dynamic tissue, undergoing constant renewal in response to mechanical, nutritional, and hormonal influences. In 1978, “The International Nomenclature of Constitutional Diseases of Bone” divided bone disorders into two broad groups: osteochondrodysplasias and dysostoses. The osteochondrodysplasia group is further subdivided into two categories: dysplasias (abnormalities of bone and/or cartilage growth) and osteodystrophies (abnormalities of bone and/or cartilage texture). The dysplasias form the largest group of bone disorders, hence the loose term “skeletal dysplasia” that is often incorrectly used when referring to a condition that is in reality an osteodystrophy or dysostosis. The word “dystrophy” implies any condition of abnormal development. “Osteodystrophies,” as their name implies, are disturbances in the growth of bone. It is also known as osteodystrophia. It includes bone diseases that are neither inflammatory nor neoplastic but may be genetic, metabolic, or of unknown origin. Recent studies have shown that bone influences the activity of other organs, and the bone is also influenced by other organs and systems of the body, providing new insights and evidencing the complexity and dynamic nature of bone tissue. The 1,25-dihydroxyvitamin D3, or simply vitamin D, in association with other hormones and minerals, is responsible for mediating the intestinal absorption of calcium, which influences plasma calcium levels and bone metabolism. Diagnosis of the specific osteodystrophy type is a rather complex process and various biochemical markers and radiographic findings are used, so as to facilitate this condition. For diagnosis, we must consider the possibility of lesions related to bone metabolism altered by chronic renal failure (CRI), such as the different types of osteodystrophies, and differentiate from other possible neoplastic and/or inflammatory pathologies. It is important that the dentist must be aware of patients medical history, suffering from any systemic diseases, and identify the interference of the drugs and treatments to control them, so that we can able to perform the correct diagnosis and propose the most adequate treatment and outcomes of the individuals with bone lesions.
Genes control approximately 60% to 75% of the variance of peak bone mass/density and a much smaller amount of variance in rate of loss.
Bone mass increases during growth to a peak value and soon after begins to decline. Most of the genetic effect is exerted during growth and so influences peak bone mass; whether there is an additional genetic effect on the rate of bone loss is less clear. So, this article aims to place emphasis on various oral and systemic conditions that are manifested due to altered gene function. Genetic polymorphisms and mutations are simple, although the consequences of the mechanism are complex. The syndromic manifestation due to changes at genetic level will greatly affect the bone quality, which will ultimately affect any treatment prognosis. Hence, a better understanding of molecular mechanisms of bone remodeling helps to identify pathogenic causes of bone, skeletal diseases, and leads to the development of targeted therapies for these diseases. This review highlights notions on the connecting link between science and genetics as well as various oral scenarios where gene could bring about changes, resulting in deformities. There is an intense research awaited in the future which could intervene with the causes that bring about genetic modulations, so as to decrease the mortality rate of humans.
Objectives Age estimation in forensic odontology is having a great importance in recent times because of the request by court or other government authorities so that immigrants whose real age is unknown should not suffer unfair disadvantages because of their supposed age, and so that all legal procedures to which an individual's age is relevant can be properly followed.
Purpose The present study was planned to be conducted on pulp tissue and dental hard tissues derived from individuals for DNA isolation and age determination .
Materials and Methods The present study was an experimental single-blinded study consisting of 30 extracted teeth categorized into three groups as follows: Group A: 10 to 20 years, Group B: 21 to 30 years, Group C: 31 to 40 years. DNA was isolated from the pulp of each tooth and quantitative polymerase chain reaction (qPCR) for calculating telomere length was performed.
Results With increase in age, the length of telomere gets shortened which will be helpful in analyzing the age of the person when morphological and biological remnants are not available except the tooth.
Conclusion The present study found that estimation of human age based on the relative TL measured by the real-time quantitative PCR may be a useful method for age prediction, especially when there is no morphologic information in the biological sample. This is the first study to accesses the age of a person by telomere length using dental pulp.
Introduction A robust genetic test for BRCA1 and BRCA2 genes is necessary for the diagnosis, prognosis, and treatment of patients with hereditary breast and ovarian cancer. We evaluated a commercial amplicon-based massively parallel sequencing (MPS) assay, BRCA MASTR Plus on the MiSeq platform, for germline BRCA genetic testing.
Methods This study was performed on 31 DNA from cell lines and proficiency testing samples to establish the accuracy of the assay. A reference cell line DNA, NA12878 was used to determine the reproducibility of the assay. Discordant MPS result was resolved orthogonally by the current gold-standard Sanger sequencing method.
Results The analytical accuracy, sensitivity, and specificity for variant detection were 93.55, 92.86, and 100.00%, respectively. Both sequencing depth and variant allele frequencies were highly reproducible by comparing the NA12878 DNA tested in three separate runs. The single discordant result, later confirmed by Sanger sequencing was due to the inability of the MASTR Reporter software to identify a 40-bp deletion in BRCA1.
Conclusion The BRCA MASTR Plus assay on the MiSeq platform is accurate and reproducible for germline BRCA genetic testing, making it suitable for use in a clinical diagnostic laboratory. However, Sanger sequencing may still serve as a confirmatory method to improve diagnostic capability of the MPS assay.
Background During 19th century, the Circassians were secluded from their lands and forced to migrate to Ottoman Empire properties. Approximately 2,346 Circassians were exiled from Istanbul to Cyprus Island. During the deportation journey, many of Circassian passed away in consequence of malaria and unknown reasons. Overall, 1,351 survivor Circassians managed to reach the island, however, many of them had faced with endemic malaria again in Cyprus. An autosomal recessive hematological disorder thalassemia was the second endemic health condition after malaria, whereas thalassemia carriers show resistance to malaria infections.
Materials and Methods A large Cypriot family with 57 members whose grandparents were supposed to be in that ship journey has been investigated in this study. Polymerase chain reaction (PCR)-amplification refractory mutation system (ARMS) analysis technique was used for genotyping the HHB gene.
Results The human β-globin (HBB) gene c.316-106C > G (IVS-II-745) (II-745) heterozygous variation have been detected.
Conclusion Overall, this study is a very good example for a typical natural selection. In this case, one single gene point mutation did not limit survival in the society; natively, it increased their survival changes to form new colonization and the inheritance of the mutation to the next generations.
Granulocytes play important roles in cancer, and their apoptotic status is often changed by the influence of tumor environment. However, the changes and the function on granulocyte apoptosis in cancer are unclear. In this study, we used tumor-bearing mouse model and tumor patients to analyzed the apoptosis of granulocytes in different tissues by flow analysis and TUNEL fluorescence staining, and found that the percentage of apoptosis cells in granulocytes was significantly decreased in late-stage tumor-bearing mouse and patients. The in vitro co-culture experiment showed that these antiapoptotic granulocytes could significantly inhibit T cell proliferation, and RNA-seq proved that there was obvious difference on the transcriptome between these cells and control cells, particularly immune-related genes. What is important, adoptive transfer of these antiapoptotic granulocytes promoted tumor progress in mouse model. Conclusively, we found that granulocytes in late-stage tumor could delay the process of apoptosis, inhibit T cell proliferation, and acquire pro-tumor activity, which provides a new therapeutic target for tumor immunity.
Novel coronavirus disease 2019 (COVID-19) is caused by a nonsegmented positive sense RNA, enveloped RNA virus that belongs to the family of β-coronaviridae. This virus shall cause acute respiratory distress syndrome (ARDS) which consequently leads to breathing difficulty and need to admit to intensive care units (ICUs). The current conventional treatment combination in most of the hospitals in Iran includes azithromycin 500 + naproxen 500 + vitamin C 1,000 + Zinc + vitamin D3 1,000. In this case reports (n = 4), we would like to report significant findings in course of COVID-19 treatment reported to our clinic on August 8 and 9, 2020; patients presented as walk in and were advised house isolation and complete bed rest as there were no signs of lung involvement and their overall condition was stable. By the inclusion of cephalexin 500 in treatment combination, patients who received cephalexin 500 for 5 days along with other medicines did not develop any lung involvement and breathing complications. Cephalexin is the gold standard in upper and lower respiratory tract infections and here also shall play a vital role besides other conventional therapies. Azithromycin is a macrodial antibiotic working via the ABCB1 gene pathway. As of date, there is no clear evidence of pharmacogenomics data in COVID-19 patients. More research needs to be performed in COVID-19 before any sort of pharmacogenomics tests could be advised.