The Rapid Evaluation of Down Syndrome With Quantitative Fluorescence Polymerase Chain Reaction (QF-PCR): A Pilot Study Among the Population in Eastern Uttar Pradesh, India.

Background and objective Down syndrome (DS) is characterized by the presence of an additional chromosome; it is a typical chromosomal disorder causing intellectual disability in individuals. The diagnostic process for DS often involves conventional karyotyping, which can be time-consuming. Trisomy 21 and other chromosomal abnormalities may now be quickly and accurately diagnosed using quantitative fluorescence polymerase chain reaction (QF-PCR). In light of this, this study aimed to investigate chromosomal abnormalities in DS using conventional karyotyping and QF-PCR among the population in eastern Uttar Pradesh, India. Methods Blood samples from 40 individuals with clinically diagnosed DS were collected. Conventional karyotyping involved standard cytogenetic techniques, while QF-PCR utilized DNA extraction and analysis with chromosome-specific short tandem repeat (STR) markers. Results Various distinct physical characteristics were observed in the DS individuals, such as mongoloid slant and low-set ears. Karyotyping and QF-PCR analyses revealed different chromosomal configurations associated with DS trisomy 21, with additional chromosomal abnormalities found in some individuals, including partial monosomy 18 and mosaic trisomy 21. However, in a few cases, neither karyotyping nor QF-PCR revealed any abnormalities. Conclusions The study demonstrated that QF-PCR is a reliable and rapid method for diagnosing DS, providing results within 24 hours. This approach allows for the simultaneous diagnosis of a large number of samples and reduces the time required to obtain results. In the diagnostic procedure for DS, we believe QF-PCR will prove to be a useful tool. Furthermore, therapeutic interventions based on their clinical traits and molecular karyotyping can enhance the quality of life of people with DS.

Ectrodactyly-Ectodermal Dysplasia Clefting Syndrome: A Case Report of Its Dental Management with 2 Years Follow-Up.

Ectrodactyly-ectodermal dysplasia clefting syndrome is a rare genetic disorder characterized by the triad of ectrodactyly-ectodermal dysplasia and facial clefting of lip or palate or both along with some systemic manifestations. Although each defect that comprises the syndrome has been known to occur as a separate entity, the congregation of all three anomalies in a single individual appears to be an extremely rare occurrence, with incidence being approximately 1.5/100 million population. Early diagnosis and management of clinical manifestations associated with ectrodactyly-ectodermal dysplasia clefting syndrome present a unique challenge. We report a case of this rare disorder in an 11-year-old male patient along with its dental management using a multidisciplinary approach.

Calciphylaxis and its diagnosis: A review.

Calciphylaxis also known as Calcific uremic arteriolopathy (CUA), is a rare fatal complication usually associated with end-stage renal disease (ESRD). It is characterized by skin ulceration and necrosis leading to significant pain. The disease calciphylaxis is pathological state resulting in accumulation of calcium content in medial wall of small blood vessels along with the fibrotic changes in intima. The aetiopathogenesis of this disease, small vessel vasculopathy, remains complicated, and unclear. It is believed that development of calciphylaxis depends on medial calcification, intimal fibrosis of arterioles and thrombotic occlusion. The disease is rare, life-threatening medical condition that occurs mostly in population with kidney disease or in patients on dialysis. Skin biopsy and radiographic features are helpful in the diagnosis of calciphylaxis, but negative results do not necessarily exclude the diagnosis. This article highlights steps undertaking in the diagnosis of calciphylaxis.

Micronuclei in Exfoliated Cells: A Biomarker of Genotoxicity in Tobacco Users.

AIMS: The aim of this study was to analyze the tobacco-related genotoxic effects in individual with habit of smoking and chewing tobacco. MATERIALS AND METHODS: The present study sample consisted of 120 individuals attending the outpatient department of D. J. College of Dental Sciences and Research, Modinagar, Uttar Pradesh (UP). The sample was divided into four groups as follows: Group I (individuals with habit of smoking tobacco), Group II (individuals with habit of chewing tobacco), Group III (individuals with habit of smoking and chewing tobacco), and Group IV control group (nontobacco-exposed individuals). Patients were asked to rinse their mouth gently with water. The exfoliated cells were obtained by scraping the buccal mucosa of individuals with a wooden spatula. The scraped cells were placed on the precleaned slides. The smears were then stained with RAPID-PAP™ and analyzed under the microscope. Data were analyzed using SPSS statistical software. RESULTS: In the present study, an arbitrary unit was obtained using frequency/day multiplied by the duration of years (risk multiplication factor [RMF], a positive and significant correlation were observed between the RMF and the mean percentage of micronucleated cell count in smokers, chewers, and in individuals with both smoking and chewing habit, respectively. A weak positive and nonsignificant correlation were observed between age and mean percentage of micronucleated cells in smokers and smokers + chewers, respectively, while it was weak negative and nonsignificant in chewers. In control group, correlation between age and percentage of micronucleated cells was weak positive and nonsignificant at 5% level of significance. CONCLUSION: The micronuclei in exfoliated mucosal cells from buccal mucosa can be used as a biomarker of genotoxicity in predicting the effects of carcinogens.

Micronuclei in exfoliated cells : a biomarker of genotoxicity in tobacco users

Aims: The aim of this study was to analyze the tobacco-related genotoxic effects in individual with habit of smoking and chewing tobacco. Materials and Methods: The present study sample consisted of 120 individuals attending the outpatient department of D. J. College of Dental Sciences and Research, Modinagar, Uttar Pradesh (UP). The sample was divided into four groups as follows: Group I (individuals with habit of smoking tobacco), Group II (individuals with habit of chewing tobacco), Group III (individuals with habit of smoking and chewing tobacco), and Group IV control group (nontobacco-exposed individuals). Patients were asked to rinse their mouth gently with water. The exfoliated cells were obtained by scraping the buccal mucosa of individuals with a wooden spatula. The scraped cells were placed on the precleaned slides. The smears were then stained with RAPID-PAP™ and analyzed under the microscope. Data were analyzed using SPSS statistical software. Results: In the present study, an arbitrary unit was obtained using frequency/day multiplied by the duration of years (risk multiplication factor [RMF], a positive and significant correlation were observed between the RMF and the mean percentage of micronucleated cell count in smokers, chewers, and in individuals with both smoking and chewing habit, respectively. A weak positive and nonsignificant correlation were observed between age and mean percentage of micronucleated cells in smokers and smokers + chewers, respectively, while it was weak negative and nonsignificant in chewers. In control group, correlation between age and percentage of micronucleated cells was weak positive and nonsignificant at 5% level of significance. Conclusion: The micronuclei in exfoliated mucosal cells from buccal mucosa can be used as a biomarker of genotoxicity in predicting the effects of carcinogens