Association of PAX3 and TMTC2 gene polymorphism with the face morphology change after excision of skin tumors

Background/Aim. The group of genes, known as PAX (paired box), has a great role in organogenesis, as well as in maintaining the normal function of certain cells after the birth. In addition to these genes, the impact on the organogenesis, at the cellular level, has a transmembrane tetratricopeptid group of genes (TMTC). The term polymorphism in the human genome implies variations in the hereditary basis that occur in human populations, the presence of two or more different alleles of one genome in the population. The aim of the work was to determine whether there is an association of PAX3 and TMTC2 genes polymorphism with changes of the face morphology after skin tumor excision and direct suture closure. Methods. The study included 130 patients of both sexes, older than 50 years, with the medical indication for the elliptical surgical excision of the skin tumor. DNA was isolated from 5 mL of peripheral blood. Gene polymorphisms were analyzed with pre-designed single nucleotide polymorphisms (SNP) assays, by allelic discrimination method on REAL-TIME apparatus. The patients were subjected to a laser scanning preoperatively, and 7 and 90 days postoperatively, in order to obtain x, y and z coordinates of 5 cephalometric points on the face, which determined the shape of the medial cheek region. The shape of the medial cheek region, as well as the coordinates of 5 cepahlometric points, were compared among genotypes of both genes preoperatively, as well as 7 days and 90 days postoperatively. Results. A statistically significant difference in the shape of the medial cheek region between wildtype and mutant of PAX3 gene was found preoperatively, while the statistically significant difference in the shape of the medial cheek region was not found between wild-type and heterozygote, nor between wild-type and heterozygote and mutant of PAX3 gene, nor among genotypes of TMTC2 gene. Seven days and 90 days postoperatively, there were no statistically significant differences in the shape of the examined region among genotypes of both genes. Conclusion. Polymorphisms of PAX3 and TMTC2 genes are not associated with the change in the face morphology after the skin tumor excision and direct suture closure of the defect.

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Self perceived oro-facial behaviour and malocclusion among young adults in Hyderabad city

International Journal of Adolescent Medicine and Health ◽

10.1515/ijamh-2018-0297 ◽

2020 ◽

Vol 0 (0) ◽

Author(s):

Dasari Tejaswini ◽

Suhas Kulkarni ◽

Dolar Doshi ◽

Adepu Srilatha

Keyword(s):

Gender Differences ◽

Young Adults ◽

Health Knowledge ◽

Simple Random Sampling ◽

Cross Sectional Study ◽

Sampling Procedure ◽

Cross Sectional ◽

Significant Difference ◽

The Face ◽

The Impact

AbstractBackgroundAesthetic alterations in the face can be self-perceived and can affect quality of life in young adults.ObjectiveTo assess the impact of malocclusion on self- perceived oro-facial behaviour among young adults.MethodsA Cross sectional study was conducted among 638 young adults (aged 18–21 years) of Hyderabad city. One college from each of the five zones of the Hyderabad city (five colleges) were selected by simple random sampling procedure. A 21-item Oro-facial investment scale (OFIS) questionnaire assessing self-perceived oral health knowledge, attitude, practice and Dental Aesthetic Index (DAI) assessing the severity of malocclusion was used. Data were analysed with standard statistical software (SPSS, Statistical package for the social sciences, version 20.0). p < 0.05 was considered statistically significant.ResultsMales had higher mean scores for knowledge (2.90 ± 0.49) than females (2.73 ± 0.82) and was statistically significant (p = 0.002*). No statistically significant gender differences were found in relation to attitude and practice. Analysis of variance (ANOVA) showed that there was a significant difference in all the three scores (knowledge, attitude, practice) with respect to age, with significantly high score for knowledge and practice among 18 year old subjects (p = 0.0001*; p = 0.0003* respectively) and attitude among 21 year old subjects (p = 0.0049*). No statistically significant age, gender differences were found in relation to DAI scores. Upon correlation, DAI significantly and positively correlated with knowledge (p = 0.03*) and attitude (p = 0.0001*).ConclusionThis study has shown significant impact of malocclusion on the self-perceived oro-facial behaviour.

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CTNI-22. RETROSPECTIVE ANALYSIS OF THE COMBINED TREATMENT OF VINCRISTINE, ACNU, CARBOPLATIN AND INTERFERON-β PLUS RADIOTHERAPY (VAC-FERON-R)IN PATIENTS WITH DIFFUSE ASTROCYTOMA

Neuro-Oncology ◽

10.1093/neuonc/noaa215.189 ◽

2020 ◽

Vol 22 (Supplement_2) ◽

pp. ii47-ii47

Author(s):

Yoshiki Arakawa ◽

Yasuhide Makino ◽

Takeshi Kawauchi ◽

Masaharu Tanji ◽

Yohei Mineharu ◽

...

Keyword(s):

Combined Treatment ◽

Diffuse Astrocytoma ◽

Wild Type ◽

Interferon Β ◽

Mutant Type ◽

Who Grade ◽

Integrated Diagnosis ◽

Significant Difference ◽

Favorable Clinical Outcome ◽

The Impact

Abstract OBJECTIVE Diffuse astrocytomas are classified as WHO grade II and its median overall survival (mOS) is 10 to 11 years. The efficacy of chemoradiation in the high-risk feature has been reported. The prognosis is associated with IDH and TERT promoter (TERTp) mutations. Here, we retrospectively analyzed the patients with diffuse astrocytoma treated with vincristine, ACNU, carboplatin and interferon-β plus radiotherapy (VAC-feron-R)in our institute. PATIENTS AND METHODS Between December 2003 to January 2016, 44 patients were diagnosed as diffuse astrocytoma with integrated diagnosis of histological and molecular analysis. The average age was 43.1 years (22–71 years). They received VAC-feron-R as initial treatment in our institute. We analyzed the IDH1/2 and the TERTp mutation using Sangar sequencing and determined the 1p/19q codeletion by the fluorescence in situ hybridization or the multiplex ligation-dependent probe amplification. RESULTS Median follow-up period was 76.5 months, mPFS was 126 months, mOS did not reach, and 10-year survival rate was 60%.IDH status was determined in 29 patients, 9 mutant and 20 wild types. There was no significant difference in PFS and OS between the two groups. TERTp status was determined in 18 patients with IDH wild type, 6 mutant and 12 wild types. mPFS of patients with TERTp wild type did not reach, but that with TERTp mutant type was 34.5 months (p = 0.0356). CONCLUSION Compared with previous clinical studies, VAC-feron-R showed a favorable clinical outcome in diffuse astrocytoma. The impact of TERTp status on prognosis was identified but not IDH status in this cohort.

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Methodology of Specialist Physicians Training: From Traditional to e-Learning

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph17207681 ◽

2020 ◽

Vol 17 (20) ◽

pp. 7681

Author(s):

Juan Chaves ◽

Antonio A. Lorca-Marín ◽

Emilio José Delgado-Algarra

Keyword(s):

Life Support ◽

Medical Training ◽

Advanced Life Support ◽

Sample Volume ◽

Mixed Methodology ◽

Face To Face ◽

Significant Difference ◽

The Face ◽

E Learning ◽

The Impact

Different studies show that mixed methodology can be effective in medical training. However, there are no conclusive studies in specialist training on advanced life support (ALS). The main objective of this research is to determine if, with mixed didactic methodology, which includes e-learning, similar results are produced to face-to-face training. The method used was quasi-experimental with a focus on efficiency and evaluation at seven months, in which 114 specialist doctors participated and where the analysis of the sociodemographic and pre-test variables points to the homogeneity of the groups. The intervention consisted of e-learning training plus face-to-face workshops versus standard. The results were the performance in knowledge and technical skills in cardiac arrest scenarios, the perceived quality, and the perception of the training. There were no significant differences in immediate or deferred performance. In the degree of satisfaction, a significant difference was obtained in favour of the face-to-face group. The perception in the training itself presented similar results. The main limitations consisted of sample volume, dropping out of the deferred tests, and not evaluating the transfer or the impact. Finally, mixed methodology including e-learning in ALS courses reduced the duration of the face-to-face sessions and allowed a similar performance.

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Clinical characteristics of KRAS mutations in NSCLC and their impact on outcomes to first-line chemotherapy.

Journal of Clinical Oncology ◽

10.1200/jco.2012.30.15_suppl.7588 ◽

2012 ◽

Vol 30 (15_suppl) ◽

pp. 7588-7588

Author(s):

Mohit Butaney ◽

Jennifer Porter ◽

Neal Ian Lindeman ◽

Pasi A. Janne ◽

Michael S. Rabin ◽

...

Keyword(s):

Smoking Status ◽

Egfr Mutations ◽

Limited Information ◽

Wild Type ◽

First Line ◽

Kras Mutations ◽

Response To Chemotherapy ◽

Significant Difference ◽

The Impact ◽

Line Chemotherapy

7588 Background: KRAS is one of the most commonly mutated oncogenes in non-small cell lung cancer (NSCLC). While the impact of EGFR mutations and EML4-alk translocations has been well-described, there is limited information about the impact of these somatic mutations on response to chemotherapy. Methods: We retrospectively reviewed the demographics and clinical outcomes of patients with KRAS mutations and compared these to patients who were KRAS wild-type (WT). Eligible pts received 1st-line IV chemo for stage IV NSCLC at DFCI and had known information about both KRAS and EGFR status. Since the biology and impact of EGFR mutations on response to chemo is well-described, we excluded such pts from the analysis. The primary endpoint was progression-free survival (PFS) with first-line chemo; secondary endpoints included radiographic response rate (RR) and overall survival (OS). Results: Between 2/05 and 8/11, there were 63 eligible KRAS pts and 97 eligible WT pts. The groups were similar in age (median 65yrs in both groups), % female (K 62, WT 54) race (K 89% white/6% black, 5% other; WT 86% white,/6% black/8% other), histology (K 90%adeno/8% NSCLC NOS; WT 86% adeno/9%NSCLC NOS), and % of pts receiving 1/2/3 agents in 1st line (K 11/56/33; WT 18/53/30). KRAS pts were less likely to be never or light smokers (4% vs 33% for WT). Nonsmokers were more likely to harbor KRAS transition rather than transversion mutations (3 transition, 1 transversion), while the converse held for smokers (51 transversions, 8 transitions). Median PFS was similar for KRAS vs WT (K .65 vs WT 4.8 months, p=0.81). RR (29% for both groups), disease control rates (K 73% vs WT 78%), and median OS (K 13.5 vs WT 12.1 months, p=.525) were also similar. Outcomes of KRAS pts to 2nd line chemotherapy (PFS 2.2, OS 8.6) are similar to those seen for WT patients in this setting. There was no significant difference in outcomes based on gender, smoking status, drug received (pemetrexed-based vs taxane based), or specific KRAS genotype. Conclusions: Pts with KRAS mutations experience similar outcomes to standard chemotherapy as those who are wild-type for EGFR and KRAS. Going forward, these data can serve as a reference for control arms of KRAS-specific randomized trials.

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Biological characteristics of rt181T/sW172* HBV are similar among distinct genotypes

10.21203/rs.3.rs-49625/v1 ◽

2020 ◽

Author(s):

Wang Huaqiang ◽

Ai Jun ◽

Zhang Jiajuan ◽

Zheng Wenkai ◽

Wang Maorong ◽

...

Keyword(s):

Hbv Dna ◽

Biological Characteristics ◽

Wild Type ◽

Hbv Genotypes ◽

Mutational Pattern ◽

Significant Difference ◽

Positive Rate ◽

The Impact ◽

Type Strains ◽

Genotype A

Abstract Background: The influence of genotypes on disease progression and clinical outcome of HBV infection is noted. The impact of HBV genotypes on rtA181T/sW172* mutation remains unclear. Patients and Methods: Clinical characteristics of 69 patients with rtA181T/sW172* mutation and 39 patients with rtA181V mutation were analyzed in this study. Fifteen serum specimens with rtA181T/sW172* mutation from different genotypes were collected for cloning and sequence analysis. HBV markers in HepG2 cells encoding different proportions of rtA181T/sW172* mutation and wild type strains were detected in genotype A, B, C and D, respectively.Results: No statistically difference was detected between rtA181T and rtA181V group regarding mean age, sex ratio, liver functions, HBV DNA load and HBeAg positive rate, except for HBsAg level (rtA181T group = 3.07±0.54 lg IU/ml vs rtA181V group = 3.29±0.43 lg IU/ml, P=0.037). Among 69 patients with rtA181T/sW172* mutation, HBV genotypes B and C accounted for 17.0% and 83.0%, respectively. The rate of genotype B was lower in rtA181T group (10.1%) than that in rtA181V group (29.7%), whereas genotype C was higher in rtA181T group (89.9%) than that in rtA181V group (70.3%). HBV rtA181T/sW172* mutant coexisted with wild type strains, accounted for 25% to 90% in all HBV strains. The distribution proportion showed no statistical difference between genotype B and C (59.2%±24.3% vs. 61.2%±19.1% , P=0.86). In transfection experiments, the level of HBV DNA was the highest for genotype B, while HBsAg was expressed in the highest level for genotype A. HBsAg and virus particle were barely detected in the supernatants of rtA181T/sW172* HBV clones in all genotypes. As the proportion of wild type HBV plasmid increased, deficiency of rt181T/sW172* mutation was complemented in all genotypes. No significant difference of the relative expression was found among distinct genotypes (P >0.05).Conclusions: HBV rtA181T/sW172* mutational pattern may be influenced by genotypes, but biological characteristics of this mutation is similar among distinct genotypes.

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The Impact of Facial Asymmetry on the Surgical Outcome of Crooked Nose: A Case Control Study

Aesthetic Surgery Journal ◽

10.1093/asj/sjaa405 ◽

2020 ◽

Author(s):

Shayan Dasdar ◽

Nika Kianfar ◽

Mohammad Sadeghi ◽

Babak Saedi

Keyword(s):

Subjective Evaluation ◽

Facial Asymmetry ◽

Anthropometric Measurements ◽

P Value ◽

Facial Soft Tissue ◽

Crooked Nose ◽

Visual Presence ◽

Significant Difference ◽

The Face ◽

The Impact

Abstract Background Facial asymmetry is considered as a reason for the patients’ dissatisfaction with the outcome of rhinoplasty. Objectives The aim of this study was to evaluate the impact of facial asymmetry on the patients’ post-operative satisfaction with crooked nose and to investigate the relationship between visual perception of asymmetry and anthropometric measurements. Methods In this retrospective study, 61 rhinoplasty patients with crooked noses were assessed. Using frontal view photos, pre- and post-operative nasal deviation angles were calculated. The patients were divided into two groups based on the visual presence of facial asymmetry. Moreover, anthropometric characteristics of the face were evaluated using facial soft tissue landmarks. The patients’ satisfaction with surgery outcomes, including both aesthetic and functional aspects, was assessed using the Persian version of the Standardized Cosmesis and Health Nasal Outcomes Survey (SCHNOS). Results Based on the observations, 19 (30.2%) and 44 (69.8%) patients had I-type and C-type noses, respectively. In both groups, the deviation angle decreased significantly post-operatively (p-value<0.001). Regarding the subjective evaluation of facial asymmetry, 22 (34.9%) and 41 (65.1%) cases had symmetric and asymmetric faces, respectively. The anthropometric measurements were also consistent with visual assessments of asymmetry. The satisfaction scores were significantly higher after surgery in all patients; however, there was no significant difference in the mean aesthetic improvement between symmetric (15.83 ± 2.68) and asymmetric faces (15.23 ± 4.46) (P-value: 0.531). The power of study was 97.8%. Conclusions Rhinoplasty in patients with deviated noses and asymmetric faces may have comparable results with symmetric ones.

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Alpha-Catenin Is Dispensable for Normal Hematopoietic Stem Cell Function.

Blood ◽

10.1182/blood.v114.22.1438.1438 ◽

2009 ◽

Vol 114 (22) ◽

pp. 1438-1438

Author(s):

Natallia Mikhalkevich ◽

Michael W. Becker

Keyword(s):

Stem Cells ◽

Stem Cell ◽

Conflicts Of Interest ◽

Fusion Product ◽

Wild Type ◽

Hematopoietic Stem ◽

Myeloid Neoplasms ◽

Increased Risk ◽

Significant Difference ◽

The Impact

Abstract Abstract 1438 Poster Board I-461 We previously demonstrated the loss of expression of alpha-E-Catenin, the product of the CTNNA1 gene, in primary leukemic stem cells isolated from patients with advanced Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML) associated with loss of all or part of the long arm of chromosome 5. To formally assess the impact of loss of Ctnna1 expression on hematopoiesis, we employed a murine model for the hematopoietic specific conditional loss of Ctnna1 expression. We demonstrate that Ctnna1 deficiency is associated with normal hematopoietic maturation and proliferation as assessed by peripheral blood examination and methycellulose colony assays. We assessed stem cell and early progenitor frequencies using both flow cytometry and functional assays. Ctnna1 deficiency was associated with equivalent frequencies of Sca1+C-Kit+CD135-Lineage- HSCs in both experimental animals and controls. Short term HSC and MPP frequencies were likewise unaltered. We assessed HSC function using transplantation studies. In competitive repopulation experiments, HSCs deficient for Ctnna1 maintained stable engraftment of recipient mice for up to 1 year. Limiting dilution analyses detected no significant difference in HSC frequency between wild type and Ctnna1 deficient mice. We examined the potential role of Ctnna1 deficient hematopoietic stem cells in two murine models for myeloid neoplasms 1.) exposure to mutagen ENU and 2.) a model for murine AML driven by the HoxA9-Nup98 fusion product. Following exposure of HSCs to ENU, loss of Ctnna1 was not associated with an increased risk of development of a myeloid neoplasm. Expression of the HoxA9-Nup98 fusion product by retroviral infection of Ctnna1 deficient and wild type Sca1+C-Kit+Lineage- cells resulted in no difference in time to development of the previously characterized myeloproliferative disorder or acute leukemia. Taken together, these data demonstrate that in the absence of specific genetic abnormalities, loss of Ctnna1 expression in primary murine HSCs is not associated with aberrant HSC function or the development of myeloid neoplasms. Further studies are necessary to define a role for of loss of Ctnna1 expression in human myeloid malignancies. Disclosures No relevant conflicts of interest to declare.

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The impact of epidermal growth factor receptor mutations on patterns of disease recurrence after chemoradiotherapy for locally advanced non–small cell lung cancer: a literature review and pooled analysis

Journal of Radiation Research ◽

10.1093/jrr/rrw075 ◽

2016 ◽

Vol 57 (5) ◽

pp. 449-459 ◽

Cited By ~ 8

Author(s):

Satoru Ochiai ◽

Yoshihito Nomoto ◽

Yui Watanabe ◽

Yasufumi Yamashita ◽

Yutaka Toyomasu ◽

...

Keyword(s):

Egfr Mutation ◽

Locally Advanced ◽

Growth Factor Receptor ◽

Disease Recurrence ◽

Wild Type ◽

Mutation Status ◽

Locally Advanced Nsclc ◽

Significant Difference ◽

Epidermal Growth ◽

The Impact

Abstract The purpose of this review was to evaluate the impact of epidermal growth factor receptor (EGFR) mutation status on disease recurrence in patients treated with chemoradiotherapy (CRT) for locally advanced non–small cell lung cancer (NSCLC). A literature search was conducted and a total of three studies were analyzed. There was no significant difference in the objective response rate between the EGFR mutation group and the EGFR wild-type group (odds ratios [OR] 1.46, 95% CI, 0.79–2.70, P = 0.228), and there was no significant difference in the incidence of disease recurrence (OR 1.37, 95% CI, 0.68–2.75, P = 0.379) between the two groups. There were significant difference in the incidence of local/locoregional progression (LP) (OR 0.35, 95% CI, 0.18–0.71, P = 0.003) and distant progression (DP) (OR 2.97, 95% CI, 1.59–5.54, P < 0.001). Brain metastasis (BM) was one of the main recurrence patterns of DP, and the incidence was significantly higher in the EGFR mutant group (OR 2.75, 95% CI, 1.43–5.31, P = 0.003). There were no statistically significant heterogeneities in these pooled analyses. The patterns of recurrence after CRT for locally advanced NSCLC were different according to EGFR mutation status. LP after CRT in patients with EGFR mutation was less frequent, but the high incidence of DP, especially BM, continued to be the major problem. On the other hand, LP continued to be the major problem in EGFR wild-type patients. In multimodality treatment for inoperable locally advanced NSCLC, we may need to consider different treatment strategies according to EGFR mutation status.

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Shift to Virtual Self-Management Programs During COVID-19: Ensuring Access and Efficacy for Older Adults

Frontiers in Public Health ◽

10.3389/fpubh.2021.663875 ◽

2021 ◽

Vol 9 ◽

Author(s):

Pamela Sanchez-Villagomez ◽

Claudia Zurlini ◽

Maggie Wimmer ◽

Linda Roberts ◽

Bertilia Trieu ◽

...

Keyword(s):

Older Adults ◽

Healthcare Services ◽

Self Management ◽

Daily Routine ◽

Management Skills ◽

Physically Active ◽

Virtual Self ◽

Significant Difference ◽

The Face ◽

The Impact

Background: The COVID-19 pandemic resulted in significant uncertainty and disruption to many aspects of daily living, including physical activity, socialization opportunities, and access to healthcare services. Under these conditions, at-risk older adults are even more likely to be inactive and isolated, leading to potential exacerbation of musculoskeletal and chronic conditions and emotional distress. This case study provides an overview of our experience and best practices developed during our shift from onsite programming to virtual.Methodology: HSS utilized varied online approaches, including phone/video conference classes, webinars, on-demand videos and email campaigns to successfully transition programs. Due to this shift, HSS changed its evaluation to an online approach, using a mixed method to adequately assess the impact of programs.Results: Between April and August 2020, our virtual programs reached 428,766 participants, resulting in a 10,807% increase in program reach. Most participants assessed were 60 years or older (72%) and reported knowledge (85%) and self-management skills (83%) gained as well as high program satisfaction (90%). Analyses of program data did not show any statistical significant difference in self-reported health outcomes. However, qualitative results showed virtual programming helped to foster social connectivity during COVID-19, helped to build a daily routine, and positively impacted mental and physical health.Conclusion: Shifting to virtual programming in the face of the pandemic enabled us to deliver effective programs affording our community the opportunity to stay physically active and socially connected despite the quarantine orders.

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Impact of regulatory light chain mutation K104E on the ATPase and motor properties of cardiac myosin

The Journal of General Physiology ◽

10.1085/jgp.202012811 ◽

2021 ◽

Vol 153 (7) ◽

Author(s):

David V. Rasicci ◽

Orville Kirkland ◽

Faruk H. Moonschi ◽

Neil B. Wood ◽

Danuta Szczesna-Cordary ◽

...

Keyword(s):

Light Chain ◽

Mechanical Performance ◽

Regulatory Light Chain ◽

Motility Assay ◽

Human Populations ◽

Cardiac Myosin ◽

Wild Type ◽

In Vitro Motility Assay ◽

Slow Development ◽

The Impact

Mutations in the cardiac myosin regulatory light chain (RLC, MYL2 gene) are known to cause inherited cardiomyopathies with variable phenotypes. In this study, we investigated the impact of a mutation in the RLC (K104E) that is associated with hypertrophic cardiomyopathy (HCM). Previously in a mouse model of K104E, older animals were found to develop cardiac hypertrophy, fibrosis, and diastolic dysfunction, suggesting a slow development of HCM. However, variable penetrance of the mutation in human populations suggests that the impact of K104E may be subtle. Therefore, we generated human cardiac myosin subfragment-1 (M2β-S1) and exchanged on either the wild type (WT) or K104E human ventricular RLC in order to assess the impact of the mutation on the mechanochemical properties of cardiac myosin. The maximum actin-activated ATPase activity and actin sliding velocities in the in vitro motility assay were similar in M2β-S1 WT and K104E, as were the detachment kinetic parameters, including the rate of ATP-induced dissociation and the ADP release rate constant. We also examined the mechanical performance of α-cardiac myosin extracted from transgenic (Tg) mice expressing human wild type RLC (Tg WT) or mutant RLC (Tg K104E). We found that α-cardiac myosin from Tg K104E animals demonstrated enhanced actin sliding velocities in the motility assay compared with its Tg WT counterpart. Furthermore, the degree of incorporation of the mutant RLC into α-cardiac myosin in the transgenic animals was significantly reduced compared with wild type. Therefore, we conclude that the impact of the K104E mutation depends on either the length or the isoform of the myosin heavy chain backbone and that the mutation may disrupt RLC interactions with the myosin lever arm domain.

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