Oral/Perioral Reactions to Injectable Soft Tissue Fillers: A Clinicopathological Multicentric Study.

OBJECTIVE: To analyze the characteristics of a series of oral reactions to injectable soft tissue fillers. MATERIALS AND METHODS: Cases diagnosed as oral reactions to injectable soft tissue fillers were selected from eight Pathology laboratories. Information was retrieved from the laboratory charts and from the review of the hematoxylin and eosin-stained histological slides. RESULTS: The 151 patients showed a mean age of 54.9 years, and 136 (90.1%) were females. Mean time of onset was 20.4 months, and the lips were the most frequent location (72.8%). Most cases presented as asymptomatic isolated nodules, with a mean size of 17.4 mm. Silicone (38.5%), polymethylmetacrylate (33%), and hyaluronic acid (11.9%) were the three most common fillers. Granulomas, foamy macrophages, and multinucleated giant cells were observed in 44%, 51.5%, and 65.3% of the cases, respectively. Time of onset was shorter for males (p = 0.033), and symptoms were common in the upper lip, buccal mucosa, and lower vestibule (p = 0.010). Foamy macrophages were more common in association with silicone and collagen (p < 0.001), whereas multinucleated giant cells were more common in association with polymethylmetacrylate, hydroxiapatite, and polylactic acid (p = 0.012). CONCLUSION: Clinicians should consider reactions to injectable soft tissue fillers when evaluating asymptomatic submucosal nodules affecting the lips of adult/older females.

Review of the Brazilian species of the genus Climaciella Enderlein (Neuroptera: Mantispidae), with the description of two new species.

Climaciella Enderlein is a genus of the family Mantispidae (Neuroptera) restricted to the New World with records ranging from southern Canada to northern Argentina. The genus is currently represented by 12 valid species, three of them with records from Brazil: C. amapaensis Penny, C. duckei Navás, and C. semihyalina (Le Peletier & Audinet-Serville). Besides the relatively low number of species from Brazil, it is known that Climaciella species present some historical taxonomic problems. In this sense, the main goal of this study was to taxonomically revise the Climaciella species from Brazil, providing detailed (re)descriptions and illustrations of all species, an updated distribution map, and an identification key to the whole genus. The study resulted in some new taxonomic acts: C. tincta (Navás) is revalidated and C. duckei is considered a new synonym of C. tincta; two new species are described: Climaciella hoffmani sp. nov. and Climaciella pennyi sp. nov.

Can microplastic contamination affect the wing morphology and wingbeat frequency of Aedes aegypti (Diptera: Culicidae) mosquitoes?

Microplastics (MPs) are increasingly widespread in the environment, which raises questions about their potential effects at different biological levels. It is essential to assess the impacts on biodiversity, and it is also crucial to understand whether the presence of MPs can interfere with the biological traits of species of relevance in public health. Considering that the life-history traits of mosquitoes, such as size and the wingbeat frequency (WBF), are related to its vector competence, here, we study the effects of 106 particles L-1 (as expected concentration of MPs on the environment, using the polyethylene type) on WBF, as well as wing morphology, testing the Culicidae species found across all continents, Aedes aegypti, as an indicator. Results show that larvae survival and development were not affected by the tested concentration of MP. Geometric morphometrics showed some asymmetry in female mosquito wings, which were also smaller for individuals reared in MP suspension. As for WBF, results did not indicate any significant differences between females. Male mosquitoes, however, showed alterations in WBF and wing morphology, suggesting possible sex-specific reactions to microplastic exposure. Also, the combination of morphological parameters analyzed as covariates (wing centroid size and body weight) did not significantly affect WBF for both female and male mosquitoes. Overall, this study shows an inaugural investigation of the effects of MP on wing size and WBF on Ae. aegypti, shedding light on these parameters tested for a current pollution issue and its impact on a virus vector.

Frequency of Oral Lesions, Olfactory, and Gustatory Disorders and Xerostomia in Patients with COVID-19.

COVID-19, a respiratory illness with a global impact on millions, has recently been linked to manifestations affecting various bodily systems, including the oral cavity. Studies highlight oral issues, like ulcers, blisters, and white patches, alongside olfactory and gustatory dysfunction, influencing an individual's quality of life. In this context, our study aimed to assess the frequency of oral lesions, olfactory and gustatory disorders, and xerostomia resulting from COVID-19. An observational study was conducted with 414 patients to evaluate the frequency of oral symptoms resulting from COVID-19. Patients were diagnosed with mild symptoms and evaluated through clinical examination of the oral cavity and a questionnaire to assess functional alterations. The findings showed that 139 out of 414 patients presented clinical manifestations, with oral lesions being the most prevalent (19.1%), followed by gustatory disorders (18.1%), xerostomia (14.2%), and olfactory dysfunction (14%). The most prevalent oral lesions were ulcerations (n = 51), candidiasis (n = 8), and erythema or red plaques (n = 7). Unfortunately, 50 (12.1%) patients died during this study. Therefore, oral lesions, olfactory and gustatory dysfunctions, and xerostomia are common symptoms associated with COVID-19.

A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report.

OBJECTIVE: To report the case of a girl presenting a severe phenotype of mandibuloacral dysplasia type A (MADA) characterized by prominent osteolytic changes and ectodermal defects, associated with a rare homozygous LMNA missense mutation (c.1579C>T). CASE DESCRIPTION: A 6-year-old girl was evaluated during hospitalization exhibiting the following dysmorphic signs: subtotal alopecia, dysmorphic facies with prominent eyes, marked micrognathia and retrognathia, small beaked nose, teeth crowding and thin lips, generalized lipodystrophy, narrow and sloping shoulders, generalized joint stiffness and bone reabsorption in the terminal phalanges. In dermatological examination, atrophic skin, loss of cutaneous elasticity, hyperkeratosis, dermal calcinosis, and hyperpigmented and hypochromic patches were observed. Radiology exams performed showed bilateral absence of the mandibular condyles, clavicle resorption with local amorphous bone mass confluence with the scapulae, shoulder joints with subluxation and severe bone dysplasia, hip dysplasia, osteopenia and subcutaneous calcifications. COMMENTS: MADA is a rare autosomal recessive disease caused by mutations in LMNA gene. It is characterized by craniofacial deformities, skeletal anomalies, skin alterations, lipodystrophy in certain regions of the body and premature ageing. Typical MADA is caused by the p.R527H mutation in the LMNA gene. However, molecular analysis performed from oral epithelial cells obtained from the patient showed the rare mutation c.1579C>T, p. R527C in the exon 9 of LMNA. This is the sixth family identified with this mutation described in the literature.

A camouflaged diversity: taxonomic revision of the thorny lacewing subfamily Symphrasinae (Neuroptera, Rhachiberothidae).

Species of the thorny lacewing subfamily Symphrasinae (Neuroptera: Rhachiberothidae) are revised. Prior to this work, 42 species were known in the genera Anchieta Navás, 1909, Plega Navás, 1928, and Trichoscelia Westwood, 1852. Herein, the number of species is increased to 60, 23 of which are newly described. Species previously known are redescribed, and their taxonomic status is revised. Keys, diagnoses, and high-resolution images for all species are presented. The distribution range of Anchieta is now known from Costa Rica to southern Brazil with a total of 11 species, of which three are newly described. The genus Plega is known from southwestern United States to southern Brazil and includes 28 species of which 14 are described as new. Moreover, the genus Trichoscelia occurs from central and southern Mexico to Argentina, with a total of 21 species, of which six are herein newly described. A phylogenetic analysis of Symphrasinae based on morphological characters recovered the three symphrasine genera as monophyletic, with Anchieta sister to Plega + Trichoscelia. The three genera are newly diagnosed based on a cladistic framework. Within the genus Anchieta, bee-mimicking species comprise a monophyletic group, while wasp-mimicking species form a laddered sequence to that lineage. Within Plega, three lineages are recovered, the first mostly composed of South and Mesoamerican species, the second with species predominantly from Central America and central and southern Mexico, and a third clade encompassing species mostly from central and northern Mexico and southwestern United States. By contrast, relationships between species of Trichoscelia were poorly resolved because of a simplified and conserved morphology of this group.

Exploring the role of the WNT5A rs566926 polymorphism and its interactions in non-syndromic orofacial cleft: a multicenter study in Brazil.

BACKGROUND: Associations between the WNT5A rs566926 variant and non-syndromic orofacial cleft (NSOC) have been reported in different populations. OBJECTIVE: This study aimed to investigate the role of the rs566926 single nucleotide polymorphism (SNP) in WNT5A and its interactions with SNPs in BMP4, FGFR1, GREM1, MMP2, and WNT3 in the occurrence of NSOC in a Brazilian population. METHODOLOGY: A case-control genetic association study was carried out involving participants from four regions of Brazil, totaling 801 patients with non-syndromic cleft lip with or without cleft palate (NSCL±P), 273 patients with cleft palate only (NSCPO), and 881 health volunteers without any congenital condition (control). Applying TaqMan allelic discrimination assays, we evaluated WNT5A rs566926 in an ancestry-structured multiple logistic regression analysis, considering sex and genomic ancestry as covariates. Interactions between rs566926 and variants in genes involved in the WNT5A signaling pathway (BMP4, FGFR1, GREM1, MMP2, and WNT3) were also explored. RESULTS: WNT5A rs566926 was significantly associated with an increased risk of NSCL±P, particularly due to a strong association with non-syndromic cleft lip only (NSCLO), in which the C allele increased the risk by 32% (OR: 1.32, 95% CI: 1.04-1.67, p=0.01). According to the proportions of European and African genomic ancestry, the association of rs566926 reached significant levels only in patients with European ancestry. Multiple interactions were detected between WNT5A rs566926 and BMP4 rs2071047, GREM1 rs16969681 and rs16969862, and FGFR1 rs7829058. CONCLUSION: The WNT5A rs566926 polymorphism was associated with NSCL±P, particularly in individuals with NSCLO and high European ancestry. Epistatic interactions involving WNT5A rs566926 and variants in BMP4, GREM1, and FGFR1 may contribute to the risk of NSCL±P in the Brazilian population.

Comparison between sex and polymorphisms on FKBP5: perception of quality of life in non-syndromic patients. A cross-sectional study.

This study aimed to compare factors that influence perception of quality of life (QoL) in patients scheduled for orthognathic surgery. This was a cross-sectional study with 91 participants from two universities in Curitiba. The orthognathic quality of life questionnaire (OQLQ) was used to assess patients' perceptions of their QoL. Sociodemographic data were collected and facial profiles classified into classes I, II, and III. DNA was extracted from oral mucosal cells and markers rs3800373 and rs1360780 for FKBP prolyl isomerase 5 were genotyped. Statistical analysis was performed using Kruskal-Wallis, Mann-Whitney, and chi-squared tests, with a significance level of 5%. There was a negative impact on general perception of QoL in females (p = 0.019) and in the domains of "oral function" (p=0.032) and "awareness of the deformity" (p=0.009). In the dominant model (CC/CT), the presence of at least one C allele for the rs1360780 marker had a negative impact on QoL in the "facial aesthetics" domain (p = 0.037). The negative impact on QoL was greater in females than in males. The perception of QoL was more negative in individuals with rs1360780 polymorphism on the FKBP5 gene and a CC/CT genotype than it was in those with a TT genotype.

Benefits of Coronectomy in Lower Third Molar Surgery: A Systematic Review and Meta-analysis.

PURPOSE: The purpose of this study was to measure and compare coronectomy versus extraction in patients at increased risk for inferior alveolar nerve (IAN) injuries associated with third molar removal in terms of IAN injury and other complications. METHODS: The review adhered to the Preferred Reporting Items for Systematic Reviews and Meta-analyses checklist. We conducted a comprehensive literature search across six databases and the gray literature from July 15 to August 01, 2022. We employed Rayyan software to identify and remove duplicate articles to ensure data integrity. Our research followed the strategy patient (P), intervention (I), comparison (C), outcome (O), and study (S): (P) patients needing lower third molar surgery at higher risk of IAN injury; (I) surgery options, coronectomy or complete extraction; (C) comparisons included reduced risks of nerve injuries, postoperative complications (pain, infection, alveolitis), and increased risks of reoperation, root migration, and extraction; (O) desired outcomes were preventing nerve injuries and reducing other surgical complications; and (S) observational study designs (cohort, case-control). Excluded from consideration were studies involving teeth other than lower third molars, as well as reviews, letters, conference summaries, and personal opinions. To gauge the certainty of evidence, we employed the Grading of Recommendation, Assessment, Development, and Evaluation instrument, selecting the most current papers with the highest levels of evidence for inclusion. The primary outcome variable of our study centered on evaluating the incidence of IAN injury, and secondly, the lingual nerve (LN) injury, the postoperative pain, infection, localized alveolitis, the necessity for surgical reintervention, root migration, and extraction. These assessments were carried out with respect to their chosen operative technique for managing third molars, either coronectomy or extraction, as predictor variables. We also considered covariates such as age, gender, and the presence of systemic diseases in our analysis to account for potential confounding factors. The pooled data underwent rigorous analysis utilizing an inverse variance method with both random and fixed effect models by the "metabin" function in the R program's meta-package. Additionally, we assessed the risk of bias in the selected studies by utilizing the Joanna Briggs Institute's Critical Appraisal Checklist for Studies Reporting Prevalence Data and the Critical Appraisal Checklist for Case Reports. RESULTS: Of the 1,017 articles found, after applying the inclusion and exclusion criteria, 42 were included in this study (29 cohort and 13 case-control studies), including 3,095 patients from 18 countries. The meta-analysis showed that coronectomy reduced the risk of IAN injury [OR (Odds Ratio): 0.14; 95% CI (confidence intervals): 0.06-0.30; I2 (inconsistency index) = 0%; P = .0001], postoperative pain (OR: 0.97; 95% CI: 0.33-2.86; I2 = 81%; P = .01), and alveolitis (OR: 0.38; 95% CI: 0.13-1.09; I2 = 32.2%; P = .01) when compared to complete tooth extraction. However, it also highlighted a greater risk of reintervention (OR: 5.38; 95% CI: 1.14-25.28; I2 = 0.0%; P = .01). CONCLUSIONS: This study has demonstrated that coronectomy is associated with a decreased risk for IAN injury and decreased pain and localized alveolitis when compared to complete tooth extraction. However, it is essential to acknowledge the higher likelihood of requiring reintervention with coronectomy. Therefore, clinicians should carefully consider the advantages and potential drawbacks of both techniques and tailor their choices to the unique clinical circumstances of each patient.

A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report / Uma rara mutação missense no gene LMNA causando um fenótipo grave de displasia mandibuloacral tipo A: relato de caso

ABSTRACT Objective: To report the case of a girl presenting a severe phenotype of mandibuloacral dysplasia type A (MADA) characterized by prominent osteolytic changes and ectodermal defects, associated with a rare homozygous LMNA missense mutation (c.1579C>T). Case description: A 6-year-old girl was evaluated during hospitalization exhibiting the following dysmorphic signs: subtotal alopecia, dysmorphic facies with prominent eyes, marked micrognathia and retrognathia, small beaked nose, teeth crowding and thin lips, generalized lipodystrophy, narrow and sloping shoulders, generalized joint stiffness and bone reabsorption in the terminal phalanges. In dermatological examination, atrophic skin, loss of cutaneous elasticity, hyperkeratosis, dermal calcinosis, and hyperpigmented and hypochromic patches were observed. Radiology exams performed showed bilateral absence of the mandibular condyles, clavicle resorption with local amorphous bone mass confluence with the scapulae, shoulder joints with subluxation and severe bone dysplasia, hip dysplasia, osteopenia and subcutaneous calcifications. Comments: MADA is a rare autosomal recessive disease caused by mutations in LMNA gene. It is characterized by craniofacial deformities, skeletal anomalies, skin alterations, lipodystrophy in certain regions of the body and premature ageing. Typical MADA is caused by the p.R527H mutation in the LMNA gene. However, molecular analysis performed from oral epithelial cells obtained from the patient showed the rare mutation c.1579C>T, p. R527C in the exon 9 of LMNA. This is the sixth family identified with this mutation described in the literature.

RESUMO Objetivo: Relatar o caso de uma jovem que apresentava um fenótipo grave de displasia mandibuloacral tipo A (MADA) caracterizado por alterações osteolíticas proeminentes e defeitos ectodérmicos, associados a uma rara mutação homozigótica missense no gene LMNA (c.1579C>T). Descrição do caso: Uma menina de seis anos foi avaliada durante hospitalização apresentando os seguintes sinais dismórficos: alopecia subtotal, fácies dismórfica com olhos proeminentes, micrognatia e retrognatia acentuada, nariz pequeno e adunco, dentes apinhados e lábios finos, lipodistrofia generalizada, ombros estreitos e inclinados, rigidez articular e reabsorção óssea nas falanges terminais. Ao exame dermatológico, observou-se pele atrófica, perda da elasticidade cutânea, hiperceratose, calcinose dérmica e manchas hiperpigmentadas e hipocrômicas. Exames radiológicos realizados mostraram ausência de côndilos mandibulares bilaterais, reabsorção da clavícula com massa óssea amorfa local confluindo com as escápulas, articulações do ombro com subluxação e displasia óssea severa, com displasia coxofemoral, osteopenia e calcificações subcutâneas. Comentários: MADA é uma doença autossômica recessiva rara causada por mutações no gene LMNA. Caracteriza-se por deformidades craniofaciais, anomalias esqueléticas, alterações cutâneas, lipodistrofia em determinadas regiões do corpo e envelhecimento precoce. MADA típica é causada pela mutação p.R527H no gene LMNA. No entanto, a análise molecular realizada com células epiteliais orais obtidas da paciente mostrou a mutação rara c.1579C>T, p. R527C no exon 9 do gene LMNA. Esta é a sexta família identificada com essa mutação descrita na literatura.

An unexpected new species of Isostenosmylus Krüger, 1913 (Neuroptera: Osmylidae), from the Brazilian Northeast

ABSTRACT The genus Isostenosmylus Krüger, 1913 contains 18 species distributed in South America, especially in the Andean region and in southern Brazil and Paraguay. Herein, a new species - Isostenosmylus derpi sp. n. - from a specific habitat named "Brejo de Altitude" from Paraíba state, Northeast Brazil, is described and illustrated. Distribution map and an updated taxonomic key for the genus females are provided.

Exploring the role of the WNT5A rs566926 polymorphism and its interactions in non-syndromic orofacial cleft: a multicenter study in Brazil

Abstract Associations between the WNT5A rs566926 variant and non-syndromic orofacial cleft (NSOC) have been reported in different populations. Objective This study aimed to investigate the role of the rs566926 single nucleotide polymorphism (SNP) in WNT5A and its interactions with SNPs in BMP4, FGFR1, GREM1, MMP2, and WNT3 in the occurrence of NSOC in a Brazilian population. Methodology A case-control genetic association study was carried out involving participants from four regions of Brazil, totaling 801 patients with non-syndromic cleft lip with or without cleft palate (NSCL±P), 273 patients with cleft palate only (NSCPO), and 881 health volunteers without any congenital condition (control). Applying TaqMan allelic discrimination assays, we evaluated WNT5A rs566926 in an ancestry-structured multiple logistic regression analysis, considering sex and genomic ancestry as covariates. Interactions between rs566926 and variants in genes involved in the WNT5A signaling pathway (BMP4, FGFR1, GREM1, MMP2, and WNT3) were also explored. Results WNT5A rs566926 was significantly associated with an increased risk of NSCL±P, particularly due to a strong association with non-syndromic cleft lip only (NSCLO), in which the C allele increased the risk by 32% (OR: 1.32, 95% CI: 1.04-1.67, p=0.01). According to the proportions of European and African genomic ancestry, the association of rs566926 reached significant levels only in patients with European ancestry. Multiple interactions were detected between WNT5A rs566926 and BMP4 rs2071047, GREM1 rs16969681 and rs16969862, and FGFR1 rs7829058. Conclusion The WNT5A rs566926 polymorphism was associated with NSCL±P, particularly in individuals with NSCLO and high European ancestry. Epistatic interactions involving WNT5A rs566926 and variants in BMP4, GREM1, and FGFR1 may contribute to the risk of NSCL±P in the Brazilian population.

Oligodontia in the Clinical Spectrum of Syndromes: A Systematic Review.

The aim of this systematic review was to describe the clinical and genetic features of syndromes showing oligodontia as a sign. The review was performed according to the PRISMA 2020 checklist guidelines, and the search was conducted using PubMed, Scopus, Lilacs, Web of science, Livivo, and EMBASE and supplemented by a gray literature search on Google Scholar and ProQuest, applying key terms relevant to the research questions. The systematic review identified 47 types of syndromes in 83 studies, and the most common was hypohidrotic ectodermal dysplasia, which was reported in 24 patients in 22 studies. Other common syndromes that reported oligodontia included Axenfeld-Rieger syndrome, Witkop's syndrome, Ellis-van Creveld syndrome, blepharocheilodontic syndrome, and oculofaciocardiodental syndrome. The X-linked mode of inheritance was the most reported (n = 13 studies), followed by the autosomal dominant (n = 13 studies). The review describes the main syndromes that may have oligodontia as a clinical sign and reinforces the need for orodental-facial examining for adequate diagnosis and treatment of the affected patients. Molecular analysis in order to better understand the occurrence of oligodontia is imperative.

Isolated nonsyndromic cleft palate: multicenter epidemiological study in the Brazil.

BACKGROUND: Nonsyndromic orofacial clefts (NSOC) are the craniofacial most common congenital malformations. There are evidences that the nonsyndromic cleft palate (NSCP) development differs from other NSOC. However, most of the publications treat NSCP without considering that information. Furthermore, few studies focus on NSCP. The aim of this study was to describe epidemiological findings of patients with isolated NSCP in Brazil. METHODS: In this cross-sectional multicenter study, four reference Centers for treatment in three different Brazilian states was investigated. Data were obtained from clinical records of patients, between November 2021 and June 2022. Researched variables were sociodemographic, clinical characteristics and pregnancy and family history. Pearson's chi-square and ANOVA One-way tests were used for associations. RESULTS: Majority were female (58.1%), white (60.7%) with incomplete NSCP (61.2%). There was an association between complete NSCP and a positive history of medical problems during pregnancy (p = 0.016; 27.9%; OR: 1.94; 1.12-3.35). Systemic alterations were perceived in 40.6% of the sample with odds ratio for development of the complete type (OR: 1.21; 0.74-1.97). Higher OR was visualized in medication use during pregnancy (OR: 1.35; 0.76-2.37) and positive family history of oral cleft (OR: 1.44; 0.80-2.55). Dental and surgical care was associated with higher age groups (p < 0.050). CONCLUSIONS: NSCP was most prevalent in white skin color female. Complete NSCP is associated with medical problems during pregnancy. Medication use during pregnancy and positive family history of oral cleft increase the chance of developing complete NSCP.

Ethnic Differences in the Brazilian Population Influence the Impact of BMP4 Genetic Variants on Susceptibility of Nonsyndromic Orofacial Clefts.

OBJECTIVE: The study evaluated the association of BMP4 tag-SNPs and SNP-SNP interactions involving genes active by BMP4 pathway during craniofacial development in the susceptibility of nonsyndromic orofacial clefts (NSOC) in the Brazilian population. DESIGN: Case-control study. SETTING: Brazilian Oral Cleft Group. PARTICIPANTS: The study included 881 healthy controls and 800 patients with different types of NSOC: 232 with cleft lip only (NSCLO), 568 with cleft lip and palate (NSCLP), and 274 with cleft palate only (NSCPO). INTERVENTIONS: The genomic DNA was genotyped with allelic discrimination assays for five BMP4 tag-SNPs (rs11623717, rs17563, rs2071047, rs2761887 and rs4898820), and analyzed their allelic and genotypic associations using multiple logistic regression. The interactions of these variants with genes involved in the BMP4 signaling pathway, including FGFR1, GREM1, NOG, VAX1 and the 4p16.2 locus, were explored. MAIN OUTCOME MEASURES: BMP4 variants in the NSOC risk. RESULTS: Although only nominal p values were identified when the whole sample was considered, subgroup analysis including the patients with high African genomic ancestry showed significant associations of rs2761887 with risk for nonsyndromic cleft lip with or without cleft palate (NSCL ± P)[(ORhom: 2.16; 95% CI: 1.21-3.85; p = 0.01) and (ORrec: 2.05; 95% CI: 1.21-3.47; p = 0.006)]. Thirteen significant SNP-SNP interactions involving BMP4 and the SNPs at FGFR1, GREM1, NOG and VAX1 and at locus 4p16.2 for increased risk of NSCL ± P were identified. CONCLUSIONS: Our results demonstrate an increased risk of NSCL ± P in Brazilian individuals with enrichment of African ancestry in the presence of the BMP4 rs2762887 polymorphism, and reveal relevant genetic contribution of SNP-SNP epistatic interactions involving BMP4 variants to NSCL ± P risk.

Associated oral manifestations with HIV southeastern Brazilian patients on antiretroviral therapy

Abstract Objectives This study aimed to assess the prevalence of oral lesions in patients living with HIV infection and their association with CD4 count, viral load, and antiretroviral therapy in patients with HIV. Methods A cross-sectional study was conducted on a sample of 161 patients attending the… All the patients were examined for their oral lesions, current CD4 counts, type, and duration of the therapy. Data analyses were carried out using Chi-Square, Student T/Mann-Whitney, and logistic regression tests. Results Oral lesions were observed in 58.39% of patients with HIV. Periodontal disease with 78 (48.45%) or without mobility 79 (49.07%) was observed more frequently, followed by hyperpigmentation of oral mucosa 23 (14.29%), Linear Gingival Erythema (LGE) 15 (9.32%), candidiasis pseudomembranous 14 (8.70%). Oral Hairy Leukoplakia (OHL) was observed only in 3 (1.86%). A relationship between periodontal disease with dental mobility and smoking was found (p = 0.04), as well duration of treatment (p = 1.53e-3) and age (p = 0.02). Hyperpigmentation was related to race (p = 0.01) and smoking (p = 1.30e-6). CD4 count, CD4:CD8 ratio, viral load, or type of treatment were not associated with oral lesions. Logistic regression showed that the duration of treatment has a protective effect on the periodontal disease with dental mobility (OR = 0.28 [−2.27 to −0.25]; p-value = 0.03), independent of age or smoking. To hyperpigmentation, the best model included smoking (OR = 8.47 [1.18-3.10], p = 1.31e-5), without race or type and duration of treatment. Conclusion Among HIV patients undergoing antiretroviral treatment, oral lesions can be observed, predominantly periodontal disease. Pseudomembranous candidiasis and oral hairy leukoplakia were also observed. No relationship was found between associated oral manifestations in HIV patients and the start of the treatment, TCD4+ and TCD8+ cell count, TCD4:TCD8 ratio, or viral load. The data indicate that there is a protective effect of duration of treatment with relation to periodontal disease with mobility and that hyperpigmentation seems to be more related to smoking than type and duration of treatment. Level of evidence Level 3 (OCEBM Levels of Evidence Working Group*. "The Oxford 2011 Levels of Evidence").

Overexpression of heat-shock protein 47 impacts survival of patients with oral squamous cell carcinoma.

BACKGROUND: The expression of heat-shock protein 47 (HSP47) has been linked to collagen synthesis control and implicated in fibrotic disorders, but more recent studies have demonstrated its role in solid tumors. In this study, we explored the prognostic impact of HSP47 in oral squamous cell carcinomas (OSCC) and determined the in vitro effects of its loss-of-function on viability, proliferation, migration, invasion, and resistance to cisplatin of OSCC cells. METHODS: The HSP47 expression in tumor samples was assessed by immunohistochemistry in two independent cohorts totaling 339 patients with OSCC, and protein levels were associated with clinicopathological features and survival outcomes. The OSCC cell lines HSC3 and SCC9 were transduced with lentivirus expressing short hairpin RNA to stably silence HSP47 and used in assays to measure cellular viability, proliferation, migration, and invasion. RESULTS: HSP47 was overexpressed in OSCC samples, and its overexpression was significantly and independently associated with poor disease-specific survival and shortened disease-free survival in both OSCC cohorts. The knockdown of HSP47 showed no effects on cell viability or cisplatin sensitivity, but impaired significantly proliferation, migration, and invasion of OSCC cells, with stronger effects on SCC9 cells. CONCLUSION: Our results show a significant prognostic impact of HSP47 overexpression in OSCC and reveal that HSP47 inhibition impairs the proliferation, migration, and invasion of OSCC cells. HSP47 may represent a potential therapeutic target for OSCC.

Dental anomalies in syndromes displaying hypertrichosis in the clinical spectrum.

Hypertrichosis and dental anomalies may occur alone or in combination in the spectrum of many syndromes. To identify genetic entities characterized by hypertrichosis and dental anomalies, a search was performed in the Mendelian Inheritance in Man database with the terms "hypertrichosis" or "hirsutism" and "tooth" or "dental abnormalities." Nondependent androgen metabolism disturbances were classified as hypertrichosis. Genetic entities with hypertrichosis and dental anomalies were included in the study. Additional searches were performed in the PubMed and Orphanet databases, when necessary, in order to include data from scientific articles. An integrative analysis of the genes associated with the identified syndromes was conducted using STRING to characterize biological processes, pathways, and interactive networks. The p-values were subjected to the false discovery rate for the correction of multiple tests. Thirty-nine syndromes were identified, and dental agenesis was the most frequent dental anomaly present in 41.02% (n = 16) of the syndromes. Causative genes were identified in 33 out of 39 genetic syndromes. Among them, 39 genes were identified, and 38 were analyzed by STRING, which showed 148 biological processes and three pathways that were statistically significant. The most significant biological processes were the disassembly of the nucleosome (GO:0006337, p = 1.09e-06), chromosomal organization (GO:0051276, p = 1.09e-06) and remodeling of the chromatin (GO: 0006338, p = 7.86e-06), and the pathways were hepatocellular carcinoma (hsa05225, p = 5.77e-05), thermogenesis (hsa04714, p = 0.00019), and cell cycle (hsa04110, p = 0.0433). Our results showed that the identification of hypertrichosis and dental anomalies may raise the suspicion of one of the thirty-nine syndromes with both phenotypes.