Buccal Epithelial Cells Research Articles

Efficacy of Chitosan and Chlorhexidine Mouthwash on Dental Plaque and Gingival Inflammation: A Systematic Review.

Mouthwash is the effective chemical plaque control mechanism being practiced globally. Teeth and tongue discoloration, a temporary change in taste perception, an increase in calculus deposits, a burning sensation, and genotoxicity of buccal epithelial cells are all possible side effects. This review evaluates the efficacy of chitosan mouthwash in comparison to chlorhexidine mouthwash in combating plaque accumulation and gingival inflammation. Electronic databases such as Medline, Cochrane, LILACS, TRIP, Google scholar, and clinical trial registries (CTRI) for ongoing trials were searched with appropriate medical subheadings (MeSH) and search terms. Randomized clinical trials comparing the efficacy of chitosan mouthwash and chlorhexidine mouthwash on dental plaque accumulation and gingivitis were included. The outcome variables of interest were plaque index, gingival index, gingival bleeding index, and colony-forming unit (CFU/ml). All data from the included studies were extracted in a customized extraction sheet. The risk of bias across the studies was assessed using the Cochrane tool for intervention (ROB-2), which consisted of six domains. Of the included three studies, we found one study with an overall low risk of bias and two studies with an overall high risk of bias across the domains. Though there was a significant reduction in plaque accumulation, gingival inflammation, and colony-forming units on the use of chitosan mouthwash and chlorhexidine mouthwash separately, all three included studies reported that a combination of both be more effective.

Influence of the composition of atmospheric air pollution on genotoxic effects in the buccal epithelial cells in children

Introduction. This publication presents the third fragment of a comprehensive multi-parameter pilot study to create a methodology for assessing the open-air odor’ impact on human’s adaptive potential. The pilot study was carried out in the little town (50 thousands of inhabitants), mainly the food industry and agro-industrial complex work, but enterprises of 1-2 classes of danger are absent. Air emissions from operating enterprises have a specific odor that causes complaints of inhabitants. Materials and methods. The effects of genome instability (EGI) in children attending kindergartens located at a distance of 1.7-5.9 km from enterprises - the primary sources of odor - were assessed. EGI was determined non-invasively using a micronucleus test on exfoliating cheek epithelial cells. The epitheliocytes from 112 children of 5 -7 years old were examined simultaneously with a collection of atmospheric air samples from the walking areas of the kindergartens which the examined children attended. These atmospheric air samples were taken for gas chromatography-mass spectrometric determination of their chemical composition. Results. Seventy-eight chemical compounds belonging to different classes of chemicals were identified in the air samples. The groups of children from different kindergartens did not differ statistically in any of the 13 assessed indicators of the cytome analysis of the buccal mucosa epithelium cells, and the levels of genotoxic and toxic effects did not go beyond the average expected values presented in literature and our studies for differents groups of comparison. High-level and statistically significant direct correlations between the total content of air pollutants with proven genotoxic activity and the two main indicators of the micronucleus test on cheek epithelial cells: the frequencies of cells with micronuclei and cells with accepted apoptotic bodies were revealed. No correlation was found between summarized levels of the detected chemicals limited concentrations and the results of cytome analysis of children’s buccal epithelial cells. Limitations. correct formation of groups for examination, the severity of the criteria for cytotome analysis and identity of cytogenetic effects identification in the course of cytotome analysis by different researchers. Conclusion. The effects of genome instability in the buccal epithelial cells in children were shown to be mainly associated with the presence of substances with proven mutagenic, carcinogenic and neogenic activities, but not with the total excess of hygienic standards for the content of chemical compounds in the air.

DNA damage level in lymphocytes and buccal epithelial cells in Narghile smokers and non-smokers in Duhok city-KRG-Iraq

IntroductionThere are different ways for Tobacco consumption among smokers. The main three ways for smoking are Cigarettes, Cigar and Narghile (the waterpipie). Narghile smoking has become a very popular habit among youth in different countries around the world. ResultsThere is higher frequency of micronuclei formation in cigarettes and Narghile smokers compared to control group (7.1 ​± ​0.9, 11.2 ​± ​0.4, and 2.2 ​± ​0.7 respectively). The mean frequency of the DNA fading (Karyolysis) in Narghile smokers was 29-fold higher than non-smokers. The mean frequencies of Karyorhexis buccal cells in Narghile smokers were 1.9-fold higher than non-smokers. The mean of Pyknosis formation was 19-fold greater than non-smokers. More migrated DNA tails were found Narghile smokers compared to controls. The mean of DNA damage measured by ACA was significantly greater (p ​< ​0.0001) than in non-smokers (53.32 ​± ​3.435 ​N ​= ​26 vs. 22.61 ​± ​1.909 ​N ​= ​21, respectively). Narghile smoking increased frequencies of micronucleus formation in buccal cells of Narghile smokers (p ​< ​0.005) compared to cigarettes smokers and non-smokers. The mean of DNA damage measured in peripheral blood cells of Narghile smokers was significantly greater (p ​< ​0.0001) than in non-smokers. ConclusionIn our study we have found direct and accumulative genomic damage effect of smoking in cigarette and Narghile smokers. Narghile smoking causes more DNA damage in buccal cells and in peripheral blood cells. This could be an evidence indicating that there is accumulative effect of Narghile smoking on genomic stability in peripheral blood cells and as well as in buccal epithelial cells.

Long-term impact of the Tyrnyauz tungsten-molybdenum mining and processing factory waste on environmental pollution and children's population.

We studied the consequences of the long-term impact of remediated tailing ponds from the Tyrnyauz tungsten-molybdenum mining and processing factory on the environmental pollution and children living in the area. For more than 60years, the factory has been engaged in the development of tungsten-molybdenum deposits by open-pit and mine methods and the enrichment of the extracted ore. More than 252,771 thousand tons of waste accumulated in its dumps and tailings ponds. This 170-hectare tailing pond contains more than 125 million tons of waste with arsenic, tungsten, molybdenum and other metals. To examine the possible accumulation of potentially toxic elements in children's bodies, we determined the content of heavy metals in drinking water and in the hair of children. An exfoliated buccal micronucleus test was used to determine the cytogenetic status of children. We did not find significant differences in the content of heavy metals inherent of a tailing pond in children's hair from polluted area compared to the control zone. In buccal cells of children living in the vicinity of the tailings pond, the total number of cytogenetic abnormalities was increased by 4.1 times, the total index of proliferation by 1.5 times, early destruction of the nucleus by 2 times and apoptosis by 1.2 times compared to the clean zone. Thus, we identified a genotoxic and cytotoxic effect on children living in the vicinity of the tailing ponds, which led to an increase in the number of children belonging to the medium- and high-risk groups. No correlations were found between the content of heavy metals in children's hair and the frequency of cells with cytogenetic abnormalities. Weak positive correlation was found between the content of manganese, zinc and copper in children's hair and the indicators of buccal epithelial cell proliferation.

Immortalised canine buccal epithelial cells’ CXCL8 secretion is affected by allergen extracts, Toll-like receptor ligands, IL-17A and calcitriol

Epithelial cells are known to produce mediators which can influence the behaviour of neighbouring immune cells. Although the oral mucosa has gained increased interest as a route to induce allergy desensitisation and mucosal pathogen immunisation in dogs, there is only limited knowledge on the factors which impact mediator secretion by canine oral epithelial cells. The study’s objective was to enlarge the knowledge on the stimuli that can influence the secretion of some pro- and anti-inflammatory cytokines and the chemokine CXCL8 by canine buccal epithelial cells. To investigate this, buccal epithelial cells were isolated from a biopsy of a dog and immortalised by lentiviral transduction of the SV40 large T antigen. The cells were stained with a CD49f and cytokeratin 3 antibody to confirm their epithelial origin. Cells were incubated with allergen extracts, Toll-like receptor ligands (TLRL), recombinant cytokines and vitamin A and D metabolites. Subsequently, the secretion of the cytokines interleukin (IL)-4, IL-6, IL-10, IL-17A, IFN-γ, TGF-β1 and the chemokine CXCL8 was assayed by ELISA. Immortalised canine buccal epithelial cells stained positive for CD49f but not for cytokeratin 3. The cells produced detectable amounts of CXCL8 and TGF-β1. A Dermatophagoides farinae extract, an Alternaria alternata extract, Pam3CSK4, heat-killed Listeria monocytogenes, FSL-1, flagellin and canine recombinant IL-17A significantly increased CXCL8 secretion, while the vitamin D metabolite calcitriol significantly suppressed the production of this chemokine. This study showed that certain allergens, TLRL, IL-17A and calcitriol modulate CXCL8 secretion in a cell line of canine buccal epithelial cells.

Analysis of GLT6D1 and CDKN2BAS gene polymorphisms in Brazilian patients with advanced periodontitis

Gene polymorphisms can predispose to periodontal disease, as demonstrated by the well-documented association between aggressive periodontitis and single nucleotide polymorphisms (SNPs) such as rs153745 in the GLT6D1 gene and rs3217992 in the CDKN2BAS gene. The purpose of this study was to evaluate the presence of these SNPs in Brazilian patients with advanced periodontitis (stages III/IV, Grade B/C) vs. healthy controls. A total of 100 patients with periodontitis (Group BC) were enrolled. Of these, 51 patients were classified as stage III and 49 patients were classified as stage IV, and 52 were Grade B (Group B) and 48 were Grade C (Group C). The control Group consisted of 61 healthy subjects. DNA samples extracted from buccal epithelial cells were used to genotype the SNPs rs1537415 (GLT6D1) and rs3217992 (CDKN2BAS) by real-time quantitative PCR. No significant differences in polymorphism frequency were found between the control Group and each of the patient groups (BC, B, or C), and Group B did not differ from Group C. In conclusion, the evaluated SNPs had no significant influence on the prevalence of periodontal disease in the sampled Brazilian population.

THE POLYMORPHISM OF METALLOPROTEINASES 1 AND 13 AND POSTTRAUMATIC ELBOW STIFFNESS.

ABSTRACTIntroduction To evaluate the relationship between the genetic polymorphism of matrix metalloproteinases 1 and 13 and posttraumatic elbow stiffness, as well as the association of other risk factors with this condition.Materials and methods We evaluated 20 patients with posttraumatic elbow stiffness and 12 controls with traumatic elbow disorders without contracture. Deoxyribonucleic acid (DNA) was obtained from buccal mucosa epithelial cells of the volunteers. The MMP-1 and MMP-13 genotypes were determined using PCR-restriction fragment length polymorphism assays.Results We did not find any significant differences in the frequency of genotypes and alleles between the test and control groups for the polymorphism of metalloproteinases 1 and 13. We observed that genotypes 1G/2G and 2G/2G of MMP-1 were present in 65% (13/20) of patients with articular stiffness and 50% (6/12) of controls (p = 0.599). Genotypes A/A and A/G of MMP-13 were obtained in 95% (19/20) of patients and 91.6% (11/12) of controls (p = 0.491). Among the prognostic factors for elbow stiffness, only immobilization time correlated positively. The mean immobilization time for cases and controls were 16 ± 10 days and 7 ± 7 days, respectively (p = 0.017).Conclusion The genetic polymorphism of MMP-1 at position -1607 and MMP-13 at position -77 was not associated with post-traumatic elbow stiffness. Level of Evidence III; Prognosis Study; Case-Control Study.

Development of a microelectrophoresis module for studying the electrokinetic properties of buccal epithelial cells

Development of a microelectrophoresis module for studying the electrokinetic properties of buccal epithelial cells

Human buccal epithelial cell envelope reactions to external micromechanical stimuli

The reaction of the shell of an adult living cell of human buccal epithelium to an external micromechanical stimulus was studied. The dependence of the magnitude of the reaction on the level of passive or active stimulation, namely, the level of force exposure, was established. It is shown that the cell can exhibit both active and passive reactions to an external micromechanical stimulus, as well as control the level of exposure to adhesive forces. Keywords: human buccal epithelium cell, shell, micromechanical stimulus, shell elasticity, AFM force spectroscopy.

Comparison of proteinase activity, hemolysin production, and adherence ability of Candida albicans isolates obtained from gastroesophageal lesions and urinary tract infections.

Background:Adhesion of Candida to host cell receptors, hemolysin production, and proteinase activity are assumed as principal virulence factors and infection establishment. These virulence factors are essential for colonization, biofilm formation, and attack on the host cells.Materials and Methods:A total of 97 Candida albicans isolates obtained from gastroesophageal lesions and urinary tract infections were included in the study. Adhesion assay, proteinase activity, and hemolysin production were measured. Statistical analysis was performed using the independent t-test and Chi-square test to compare quantitative and qualitative data between the two groups.Results:The adherence ability to the buccal epithelial cells was the same in the two groups. Proteinase activity was seen in all clinical isolates. Hemolytic activities were not statistically significant in the two groups.Conclusion:Our results recommend that the pathogenicity of C. albicans in the mucous membranes cannot be connected to the infected site.

Investigation of the relief geometry of the membrane of human buccal epithelium cells using atomic force microscopy methods

The analysis of the shape of the Brownian relief of the surface of human buccal epithelium cells was carried out using the method of fractal geometry. The scaling coefficients eta, zeta and the fractal dimension Df were used to estimate their actual areas Sc(fact) and linear characteristics lf. Keywords: atomic force microscopy, buccal epithelium, fractal number.

Исследование геометрии рельефа оболочки клеток буккального эпителия человека методами атомно-силовой микроскопии

The analysis of the shape of the Brownian relief of the surface of human buccal epithelium cells was carried out using the method of fractal geometry. The scaling coefficients ,  and the fractal dimension Df were used to estimate their actual areas Scfact and linear characteristics lf.

BUCCAL CELL MICRONUCLEI AMONG PATIENTS WITH ORAL LEUKOPLAKIA.

The aim: The purpose of research was to evaluate the efficiency of micronucleus test in buccal cells for the diagnosis of oral leukoplakia. Materials and methods: We have conducted a comprehensive clinical and laboratory examination of 155 patients with oral leukoplakia. It was conducted histological examination leukoplakia mucosal sites, to assess the buccal epithelium cell micronucleus test was carried out. Results: Histological evaluation of the material was made according to the classification of leukoplakia WHO (2005). They are established 10 (14%) sites unmodified mucosa, 10 (14%) of the samples hyperkeratosis without atypia, 14 (19%) biopsies hyperkeratosis SIN1, 15 (21%) of hyperkeratosis SIN2, 10 (14%) -- SIN3 and 13 (18 %) of the cases of squamous cell carcinoma. Micronuclei, whose appearance is caused by violation of differentiation of epithelial cells, were found in patients with leukoplakia, the detection of micronuclei almost equally high as in patients with leukoplakia SIN2, and with SIN3 (a difference of 1.3 times (p <0,05, rxy = + 0.271)), and consequently the probability of occurrence of tumoral diseases of the oral mucosa or malignancy existing large. Conclusions: Thus, on the background of the general increase in proliferative activity of epithelial cells with increasing SIN, for each treatment group revealed the appearance of micronuclei in buccal cells. And the frequency of micronuclei and the fourth type of increases with hyperplasia, indicating an increase in the likelihood of malignancy and cancer of the oral mucosa in patients with leukoplakia SIN3.

In Vitro Culture Expansion and Characterization of Buccal Mucosal Epithelial Cells for Tissue Engineering Applications in Urethral Stricture After Transportation Using a Thermoreversible Gelation Polymer.

Introduction: The transportation of tissues from hospitals to clinical laboratories for cell therapy is an essential component of regenerative medicine. Previously, we used laboratory-cultured mucosal cells from buccal epithelium expanded and encapsulated using a scaffold-hybrid approach to the urethral stricture (BEES-HAUS) procedure. In this study, to improve the outcomes, we compared the thermoreversible gelation polymer (TGP) transportation procedure with conventional culture methods, and reported its advantages. Methods: Human buccal mucosal tissues in Phase I of the study were transported in Euro-Collins solution (ECS) and the cells obtained were cultured in two-dimensional (2D) Dulbecco's modified Eagle's medium (DMEM), CnT-Prime epithelial 2D differentiation medium (CnT-PR), and a three-dimensional (3D)-TGP scaffold. In Phase II, tissues were transported in a TGP cocktail and the ECS. The cells were cultured in 2D-DMEM and 3D-TGP, quantified, and characterized by immunohistochemistry. Results: The cells in 3D-TGP culture maintained epithelial morphology in a better manner compared with 2D-DMEM, in which they developed fibroblast-like morphology. The TGP-transported cells grew rapidly. Immunohistochemical analysis results for AE1/AE3, EGFR, integrin-β1, p63, and p75 were intensely positive in 3D-TGP. Conclusion: The TGP-based cocktail used in human buccal tissue transportation yielded cells with better morphology maintenance. The TGP scaffold provides an optimal in vitro environment wherein epithelial cells better maintain their native phenotype compared to those cultured through conventional methods. These results suggest using TGP for the transportation and culture of human buccal tissues for clinical applications. In addition, the use of a TGP-based cocktail for the transport of other tissues for regenerative medicine applications is worth further analysis.

Single-shot pixel super-resolution phase imaging by wavefront separation approach

We propose a novel approach for lensless single-shot phase retrieval, which provides pixel super-resolution phase imaging. The approach is based on a computational separation of carrying and object wavefronts. The imaging task is to reconstruct the object wavefront, while the carrying wavefront corrects the discrepancies between the computational model and physical elements of an optical system. To reconstruct the carrying wavefront, we do two preliminary tests as system calibration without an object. Essential for phase retrieval noise is suppressed by a combination of sparse- and deep learning-based filters. Robustness to discrepancies in computational models and pixel super-resolution of the proposed approach are shown in simulations and physical experiments. We report an experimental computational super-resolution of 2μm, which is 3.45× smaller than the resolution following from the Nyquist-Shannon sampling theorem for the used camera pixel size of 3.45μm. For phase bio-imaging, we provide Buccal Epithelial Cells reconstructed with a quality close to the quality of a digital holographic system with a 40× magnification objective. Furthermore, the single-shot advantage provides a possibility to record dynamic scenes, where the frame rate is limited only by the used camera. We provide amplitude-phase video clip of a moving alive single-celled eukaryote.

Impact of Prematurity on the Buccal Epithelial Cells of the Neonates via Wnt/Beta-Catenin Signaling Pathway and Apoptosis.

Understanding the reflections of prematurity is necessary for the management of neonatal complications. We focused on the impact of prematurity and related "maternal risk factors/obstetric complications" on buccal cells of the neonates via evaluation of the Wnt/β-catenin signaling pathway and apoptosis. This study consisted of "early preterm neonates (EPN) (≤34th gestational week [gw]) (n = 36)," "late preterm neonates (LPN) (34th- < 37th gw) (n = 46)," and "term neonates (control) (≥37th gw) (n = 56)." Cohort was also subclassified according to the presence of maternal risk factors, obstetric complications, and neonatal complications. Wnt/β-catenin signaling and caspase-3 activation pathways were studied immunocytochemically. Wnt/β-catenin signaling positivity was statistically more frequent at buccal smears of the EPN and LPN groups compared with controls (p < 0.001). The cutoff for gestational age at delivery in receiver operating characteristic curve with the best balance of sensitivity (67.4%) and specificity (67.3%) was 35.8th gw for determining the reduction of Wnt/β-catenin signaling positivity (p < 0.001). The study demonstrated that obstetric complications significantly affected the activity of signaling, while maternal risk factors do not have any effect on Wnt/β-catenin signaling pathway (p = 0.003 and p = 0.828, respectively). This study also demonstrated a significant relationship between Wnt/β-catenin signaling pathway and the presence of neonatal complications (p = 0.015). Dynamic characteristics of buccal cells are influenced by prematurity and related obstetric and neonatal problems. Buccal smear is a good tool to investigate the impact of prematurity and obstetric problems on perinatal outcome. · Neonatal buccal cells are affected by prematurity and related obstetric/neonatal problems.. · 35.8th gw is critical for determining the reduction of Wnt/β-catenin signaling positivity.. · Obstetric and neonatal complications significantly related to Wnt/β-catenin signaling activity..

Peran Hemaglutinin dan Hemolisin pada Escherichia coli Sorbitol-negatif Isolat Burung Puyuh pada Proses Infeksi Secara in Vitro

Abstract Escherichia coli sorbitol-negative in quails cause economic loss due to the death, growth rate inhibition, decreased egg production, and increased medical treatment. Escherichia coli sorbitol-negative has many virulence factors, including hemagglutinin and hemolysin. The aim of this study is to determine the role of hemagglutinin and hemolysin in the infection process of Escherichia coli sorbitol-negative in vitro. This study was performed using 23 isolates of Escherichia coli sorbitol-negative from quails, 52.2% (12 of 23 isolates) had hemagglutinin, while 34.8% (8 out of 23 isolates) had hemolysin. Isolates with hemagglutinin were more attached to human buccal epithelial cells than isolates without hemagglutinin (P &lt;0.05). Isolates with hemolysin were less phagocyted by macrophages compared to isolates which without hemolysin (P &lt;0.05). Escherichia coli sorbitol-negative isolates from quails that have hemagglutinin and hemolysin are pathogenic isolates that possess the potential to cause colibasilosis and transmission between quails and other birds.

Infant DNA methylation: an early indicator of intergenerational trauma?

Exposure to adverse childhood experiences (ACEs) increases risk for mental and physical health problems. Intergenerationally, mothers' ACEs predict children's health problems including neurodevelopmental and behavioural problems and poorer physical health. Theories of intergenerational trauma suggest that ACEs experienced in one generation negatively affect the health and well-being of future generations, with DNA methylation (DNAm) being one of several potential biological explanations. To begin exploring this hypothesis, we tested whether infant DNA methylation associated with intergenerational trauma. Secondary analysis employed data from the Alberta Pregnancy Outcomes and Nutrition (APrON) study. Subsample data were collected from mothers during pregnancy and postpartum on measures of distress, stress and ACEs and from infants at 3 months of age on DNAm from blood (n = 92) and buccal epithelial cells (BECs; n = 124; primarily nonoverlapping individuals between tissues). Blood and BECs were examined in separate analyses. Preliminary associations identified in blood and BECs suggest that infant DNAm patterns may relate to maternal ACEs. For the majority of ACE-related DNAm sites, neither maternal perinatal distress, nor maternal cortisol awakening response (CAR; a measure of hypothalamic-pituitary-adrenocortical axis function), substantially reduced associations between maternal ACEs and infant DNAm. However, accounting for maternal perinatal distress and cortisol substantially changed the effect of ACEs in a greater proportion of blood DNAm sites than BEC DNAm sites in the top ACEs-associated correlated methylated regions (CMRs), as well as across all CMRs and all remaining CpGs (that did not fall into CMRs). Possible DNAm patterns in infants, thus, might capture a signature of maternal intergenerational trauma, and this effect appears to be more dependent on maternal perinatal distress and CAR in blood relative to BECs.

ПОИСК АССОЦИАЦИИ ПОЛИМОРФИЗМА rs3918242 ГЕНА ММР9 С РЕЦЕССИЕЙ ДЕСНЫ У ДЕТЕЙ

Subject. Gingival recession is a complex multifactorial disease, the development of which is influenced by the interaction of many genes and environmental factors (orthodontic and mucogingival anomalies, bad habits, muscle hypertonicity). Since, in addition to environmental factors, genes also influence the development of this pathology, the study of the molecular genetic basis of gum recession is an urgent task of modern dentistry. Such studies can make a decisive contribution to the creation of a concept describing the development of gingival recession, will help determine the prospects for its personalization and will allow the development of scientifically based comprehensive programs for the prevention of periodontal pathology.&#x0D; The aim is to study the association of the rs3918242 of the metalloproteinase 9 (MMP9) gene in children with the development of gum recession citizensof the Republic of Tatarstan.&#x0D; Methodology. The study sample included 284 patients, of which 200 relatively healthy ones constituted the control group (intact periodontium) and 84 - the observation group (gingival recession). DNA was isolated from buccal epithelial cells. Further genotyping of the rs3918242 polymorphism of the MMP9gene was performed using real-time polymerase chain reaction on a CFX96 amplifier (BioRad, USA) in accordance with the manufacturer's instructions (Sib-DNA, Novosibirsk). Statistical analysis was performed to assess the differences between the study groups.&#x0D; Results. There were no statistically significant differences in the frequency of alleles and genotypes of the rs3918242 polymorphism of the MMP9 gene between the study groups (p &gt; 0.05).&#x0D; Conclusions. The role of the rs3918242 polymorphism of the MMP9 gene in the development of gum recession in children living in the Republic of Tatarstan has not been established using the case-control methodological approach.

Somatic variation as an incidental finding in the pediatric next-generation sequencing era.

The methodologic approach used in next-generation sequencing (NGS) affords a high depth of coverage in genomic analysis. Inherent in the nature of genomic testing, there exists potential for identifying genomic findings that are incidental or secondary to the indication for clinical testing, with the frequency dependent on the breadth of analysis and the tissue sample under study. The interpretation and management of clinically meaningful incidental genomic findings is a pressing issue particularly in the pediatric population. Our study describes a 16-mo-old male who presented with profound global delays, brain abnormality, progressive microcephaly, and growth deficiency, as well as metopic craniosynostosis. Clinical exome sequencing (ES) trio analysis revealed the presence of two variants in the proband. The first was a de novo variant in the PPP2R1A gene (c.773G > A, p.Arg258His), which is associated with autosomal dominant (AD) intellectual disability, accounting for the proband's clinical phenotype. The second was a recurrent hotspot variant in the CBL gene (c.1111T > C, p.Tyr371His), which was present at a variant allele fraction of 11%, consistent with somatic variation in the peripheral blood sample. Germline pathogenic variants in CBL are associated with AD Noonan syndrome–like disorder with or without juvenile myelomonocytic leukemia. Molecular analyses using a different tissue source, buccal epithelial cells, suggest that the CBL alteration may represent a clonal population of cells restricted to leukocytes. This report highlights the laboratory methodologic and interpretative processes and clinical considerations in the setting of acquired variation detected during clinical ES in a pediatric patient.