Periodontitis severity relationship with metabolic syndrome: A systematic review with meta-analysis.

The objective of this study was to investigate the association between periodontitis severity and metabolic syndrome (MetS) through systematic review, registered in PROSPERO: CRD42021232120. Selected articles were independently chosen by three reviewers from six databases, including using article reference lists, up until March 2022. Eligible studies were observational, without language limitation, and in subjects aged at least 18 years. The methodological quality of selected studies was assessed using the Newcastle-Ottawa Scale. Random effects models calculated summary measurements (odds ratio-OR, 95% confidence interval, 95%CI). The I2 test evaluated the statistical heterogeneity of the data. Sensitivity, subgroup, and meta-regression analyses were performed. For the reliability of evidence, the Grading of Recommendations, Assessment, Development, and Evaluations tool was used. A total of 2133 records were identified, and 14 studies were included comprising 24,567 participants. The summary odds ratio showed a positive association between individuals with moderate (ORadjusted  = 1.26; 95%CI = 2.10-5.37; I2  = 45.85%), and severe periodontitis (ORadjusted  = 1.50; 95%CI:1.28-1.71; I2  = 56.46%), and MetS. Subgroup and meta-regression analyses showed that study effect size was influenced by year of publication, study design, and MetS diagnostic criteria, contributing to inter-study variability. The findings showed that moderate and severe levels of periodontitis are associated with MetS, suggesting a possible dose-response effect.

Obesity in young women is positively associated with periodontitis.

OBJECTIVE: This cross-sectional study was performed to investigate the association between excess body weight and periodontitis in adults, stratified by sex and age, and using different criteria for obesity. MATERIAL AND METHODS: Enrolled in the study were 345 individuals with a minimum age of 18 years who had attended the Public Health Service in the city of Salvador, Bahia, Brazil. All individuals underwent a complete periodontal examination and anthropometric measurements and answered a questionnaire regarding their socioeconomic, demographic, health, and lifestyle conditions. Excess body weight (exposure factor) was defined using body mass index (BMI) and waist circumference (WC). Prevalence ratios (PRs) and 95% confidence intervals (95%CI) were obtained by Poisson regression analysis with robust variance. RESULTS: Periodontitis was found in 74.2% of study participants, with the disease being more prevalent among those individuals with increased WC. The occurrence of overweight was 44.4% and that of obesity ranged from 29.9 to 70.8%, dependent upon the specific definition of obesity that was used. There was a positive association between obesity (WC > 88 cm) and periodontitis only among women, after adjustment for age, smoking habit, education level, diabetes, and family income (PRadjusted: 1.20; 95%CI: [1.01-1.44]). The magnitude of this positive association was higher among women aged 18 to 49 years when the outcome was severe periodontitis, and the exposure was obesity defined by WC. CONCLUSIONS: The findings draw attention to the high frequency of the diseases investigated: overweight, obesity and periodontitis. Moreover, obesity was positively associated with periodontitis in women and younger individuals, demonstrating that among those with obesity, there is a higher probability of having periodontitis. The smaller number study of men in the may have influenced the non-statistically significant association found in that group. CLINICAL RELEVANCE: Obese females and younger people are more likely to also have periodontitis. Periodontal evaluation and clinical management of individuals with obesity is recommended.

Gene expression and genetic control to cold tolerance during maize seed germination.

BACKGROUND: The study of cold tolerance in maize seeds and seedlings through physiological quality assessments, as well as the genetic control associated with this trait, allows an early characterization of genotypes. Here we studied the genetic control for cold tolerance during the germination process in maize seeds and genes influenced by this stress. RESULTS: Six maize lines were used, three classified as tolerant and three as susceptible to low germination temperature. A field was developed to produce the hybrid seeds, in a partial diallel scheme including the reciprocal crosses. For the expression analysis, seeds from two contrasting lines were used, as well as their hybrid combination and their reciprocal crosses, on dried and moistened seeds at 10 °C for 4 and 7 days. It was evaluated the catalase (CAT) and esterase (EST) enzymes, heat-resistant proteins and the genes Putative stearoyl-ACP desaturase (SAD), Ascorbate Peroxidase (APX), Superoxide Dismutase (SOD) and Mitogen Activated Protein Kinase (ZmMPK5). The estimated values ​​for heterosis, general and specific combining abilities and reciprocal maternal and non-maternal effects were carried out and it showed that there is heterosis for germination at low temperatures, also the non-additive genes were more important and there was a reciprocal effect. CONCLUSIONS: There is a greater expression of the CAT and EST enzymes in moistened seeds at seven days and there is less expression of heat-resistant proteins and the SAD gene at seven days of moistening. Also, there are variations in the expression of the APX, SOD and ZmMPK5 genes in dried and moistened seeds, as well as among the genotypes studied.

Identification of mutations in CUL7 in 3-M syndrome.

Intrauterine growth retardation is caused by maternal, fetal or placental factors that result in impaired endovascular trophoblast invasion and reduced placental perfusion. Although various causes of intrauterine growth retardation have been identified, most cases remain unexplained. Studying 29 families with 3-M syndrome (OMIM 273750), an autosomal recessive condition characterized by severe pre- and postnatal growth retardation, we first mapped the underlying gene to chromosome 6p21.1 and then identified 25 distinct mutations in the gene cullin 7 (CUL7). CUL7 assembles an E3 ubiquitin ligase complex containing Skp1, Fbx29 (also called Fbw8) and ROC1 and promotes ubiquitination. Using deletion analysis, we found that CUL7 uses its central region to interact with the Skp1-Fbx29 heterodimer. Functional studies indicated that the 3-M-associated CUL7 nonsense and missense mutations R1445X and H1464P, respectively, render CUL7 deficient in recruiting ROC1. These results suggest that impaired ubiquitination may have a role in the pathogenesis of intrauterine growth retardation in humans.

A remarkable assemblage of petroglyphs and dinosaur footprints in Northeast Brazil.

The Serrote do Letreiro Site, found on the northwest periphery of the Sousa Basin, Brazil, presents a remarkable convergence of paleontological and archaeological elements. It is constituted of sub-horizontal "lajeiros", or rock outcrops, intermingled with endemic Caatinga vegetation. The three prominent outcrops feature fossilized footprints of theropod, sauropod, and iguanodontian dinosaurs from the Early Cretaceous Period. Adjacent to these dinosaur tracks, indigenous petroglyphs adorn the surface. The petroglyphs, mainly characterized by circular motifs, maintain a striking resemblance to other petroglyphs found in the states of Paraíba and Rio Grande do Norte. This study primarily endeavors to delineate the site's major characteristics while concentrating on the relationship between the dinosaur footprints and the petroglyphs. It concurrently assesses the preservation status of this invaluable record, shedding light on its implications for the realms of paleontology, archaeology, and cultural heritage studies.

Association between the use of oral contraceptives and the occurrence of systemic hypertension: A systematic review with statistical comparison between randomized clinical trial interventions.

Introduction: In the WHO eligibility criteria, there is agreement that hypertensive women taking Oral Contraceptive Hormonal Combined (OCHC) may be at increased risk of cardiovascular disease. The risk-to-benefit ratio hinges on the severity of the condition. While a mild increase in blood pressure is a common occurrence in consumers of OCHC, the potential for developing high blood pressure exists during oral contraceptive use. Consequently, there is a possibility of increased cardiovascular risk, with limited available data on this issue. Objective: To evaluate the potential effects of OCHC on blood pressure through a systematic review with statistical analysis of existing randomized controlled trials. Method: This systematic review with statistical comparison adheres to the recommendations outlined in the PRISMA (Principal Reporting Items for Systematic Reviews and Meta-analyses) guidelines. The analysis strategy involves comparing the mean difference in blood pressure change according to the type of treatment, in addition to the calculation of clinically relevant outcomes (CRO). Results: Our findings suggest a clinically relevant outcome related to the increase in blood pressure in users of ethinyl estradiol combined with gestodene in a cyclic regimen over 6 months. Conversely, a decrease in blood pressure was observed among users of ethinyl estradiol combined with chlormadinone over 24 months of usage. Conclusion: While our study found minor variations in blood pressure across varying forms of oral contraceptives, these differences are not significant enough to warrant specific clinical recommendations. However, the results suggest that individuals with hypertension should exercise caution with ethinyl estradiol, particularly when administered cyclically alongside gestodene, due to the potential risk of increased blood pressure. Additionally, the use of oral contraceptives containing ethinyl estradiol paired with chlormadinone acetate or ethinyl estradiol combined with drospirenone may be more suitable for individuals at a high risk of developing hypertension.

Possible involvement of zinc transporter ZIP13 in myogenic differentiation.

Ehlers-Danlos syndrome spondylodysplastic type 3 (EDSSPD3, OMIM 612350) is an inherited recessive connective tissue disorder that is caused by loss of function of SLC39A13/ZIP13, a zinc transporter belonging to the Slc39a/ZIP family. We previously reported that patients with EDSSPD3 harboring a homozygous loss of function mutation (c.221G > A, p.G64D) in ZIP13 exon 2 (ZIP13G64D) suffer from impaired development of bone and connective tissues, and muscular hypotonia. However, whether ZIP13 participates in the early differentiation of these cell types remains unclear. In the present study, we investigated the role of ZIP13 in myogenic differentiation using a murine myoblast cell line (C2C12) as well as patient-derived induced pluripotent stem cells (iPSCs). We found that ZIP13 gene expression was upregulated by myogenic stimulation in C2C12 cells, and its knockdown disrupted myotubular differentiation. Myocytes differentiated from iPSCs derived from patients with EDSSPD3 (EDSSPD3-iPSCs) also exhibited incomplete myogenic differentiation. Such phenotypic abnormalities of EDSSPD3-iPSC-derived myocytes were corrected by genomic editing of the pathogenic ZIP13G64D mutation. Collectively, our findings suggest the possible involvement of ZIP13 in myogenic differentiation, and that EDSSPD3-iPSCs established herein may be a promising tool to study the molecular basis underlying the clinical features caused by loss of ZIP13 function.

Mannans: Structural carbohydrates produced during seed maturation in Euterpe edulis Martius, an Atlantic Forest species vulnerable to extinction.

Palm seedlings are visually selected from mature fruits in a slow process that leads to nonuniform germination and high embryo mortality. In this study, we determined the levels of monosaccharides, their crystallinity, and their role in the formation of Euterpe edulis endosperm during seed maturation. Seeds harvested from 108 to 262 days after anthesis (DAA) were analyzed morphologically, physiologically, and chemically to measure soluble and insoluble lignins, ashes, structural carbohydrates, degree of crystallinity, and endo-ß-mannanase. The seeds achieved maximum germination and vigor at 164 DAA. During the early stages, only compounds with a low structural order were formed. The contents of soluble and insoluble lignins, ashes, glucans, and galactans decreased during maturation. Those of mannans, the main structural carbohydrate in the endosperm, increased along with the degree of crystallinity, as suggested by a mannan-I-type X-ray diffraction pattern. Similarly, endo-ß-mannanase activity peaked at 262 DAA. The superior physiological outcome of seeds and seedlings at 164 DAA implies a 98-day shorter harvesting time. The state of mannans during seed maturation could be used as a marker to improve seedling production by E. edulis.

PSMB8 encoding the ß5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.

We performed homozygosity mapping in two recently reported pedigrees from Portugal and Mexico with an autosomal-recessive autoinflammatory syndrome characterized by joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP). This revealed only one homozygous region spanning 2.4 Mb (5818 SNPs) on chromosome 6p21 shared by all three affected individuals from both families. We directly sequenced genes involved in immune response located in this critical region, excluding the HLA complex genes. We found a homozygous missense mutation c.224C>T (p.Thr75Met) in the proteasome subunit, beta-type, 8 (PSMB8) gene in affected patients from both pedigrees. The mutation segregated in an autosomal-recessive fashion and was not detected in 275 unrelated ethnically matched healthy subjects. PSMB8 encodes a catalytic subunit of the 20S immunoproteasomes called ß5i. Immunoproteasome-mediated proteolysis generates immunogenic epitopes presented by major histocompatibility complex (MHC) class I molecules. Threonine at position 75 is highly conserved and its substitution with methionine disrupts the tertiary structure of PSMB8. As compared to normal lymphoblasts, those from an affected patient showed significantly reduced chymotrypsin-like proteolytic activity mediated by immunoproteasomes. We conclude that mutations in PSMB8 cause JMP syndrome, most probably by affecting MHC class I antigen processing.

Depression, Anxiety and Stress in Health Professionals in the COVID-19 Context.

To assess the prevalence of depression, anxiety and stress symptoms in health professionals in the COVID-19 pandemic context. METHOD: Cross-sectional study with non-probabilistic (snow-ball) sampling method. The assessment was performed using the Depression, Anxiety, and Stress Scale (DASS-21) and the prevalence of symptoms severity was calculated by point and 95% confidence interval. The analysis of the psychometric properties of DASS-21 was performed using confirmatory factor analysis (CFA) and the following goodness of fit indices: χ2/df (chi-square ratio by degrees of freedom), Tucker-Lewis index (TLI), comparative fit index (CFI) and root mean square error of approximation (RMSEA) with a 90% confidence interval. RESULTS: The study participants were 529 health professionals (82.4% women and 66.7% nursing professionals). CFA of the DASS-21 structural model presented adequate fit for the sample (χ2/df = 3.530; CFI = 0.979; TLI = 0.976; RMSEA = 0.069). Regarding prevalence, moderate to extremely severe symptoms of depression, anxiety and stress were found in 48.6%, 55.0% and 47.9% of the participants, respectively. CONCLUSION: The use of DASS-21 confirmed the validity and reliability of the data. The prevalence of depression, anxiety and stress symptoms in the participants indicated a high risk of mental illness in health professionals in the COVID-19 pandemic.

Duloxetine for the treatment acute postoperative pain in adult patients: A systematic review with meta-analysis.

BACKGROUND: Duloxetine administered during the acute perioperative period has been associated with lesser postoperative pain and analgesic consumption. STUDY OBJECTIVES: The study aimed to quantify the pooled effects of duloxetine on postoperative pain, analgesic consumption, and side-effects in the first 48 postoperative (PO) hours. DESIGN: Systematic review with meta-analysis. SETTING: Postoperative pain management. PATIENTS: Adult patients undergoing elective surgery. Search strategy and study selection. Medline, Cochrane, EMBASE, CENTRAL, and Web of Science were searched without language restrictions for prospective, parallel randomized controlled trials comparing duloxetine to placebo for the management of postoperative pain in adult patients. MEASUREMENTS: Pain scores (11-point scales), opioid consumption (i.v. morphine equivalents), and frequency of side-effects were compared between duloxetine and placebo. Effect sizes were summarized as mean differences (MD), standardized mean differences (SMD) or risk ratios (RR) with the respective 95% confidence intervals (95% CI). Grading of Recommendations Assessment, Development, and Evaluation (GRADE) criteria were used to classify the quality of evidence. RESULTS: Thirteen studies were included. Duloxetine decreased pain at 24 h (MD = -0.66 points; 95% CI = -1.14 to -0.19 points; SMD = -0.59; 95% CI = -1.06 to -0.12; p = 0.01; I2 = 88%), and at 48 PO hours (MD = -0.90 points; 95% CI = -1.54 to -0.26 points; SMD = -0.66; 95% CI = -0.94 to -0.38; p = 0.01; I2 = 93%); and opioid consumption at 24 PO hours (MD = -8.21 mg; 95% CI = -13.32 mg to -3.10 mg; SMD = -2.17; 95% CI = -3.10 to -1.24; p < 0.001; I2 = 95%), and at 48 PO hours (MD = 7.71 mg; 95% CI = -13.86 mg to -1.56 mg; SMD = -2.13; 95% CI = -3.51 to -0.75; p = 0.02; I2 = 97%). Duloxetine did not affect the prevalence of postoperative nausea and/or vomiting (PONV) pruritus, headache or dizziness. High inter-study heterogeneity and within-study bias resulted in very-low quality of evidence for the primary outcomes. CONCLUSIONS: Although statistically significant effects of duloxetine were found on postoperative pain and opioid consumption during the first 48 postoperative hours, the effect sizes were below the expected minimal clinically relevant differences. Also, high risk-of-bias and inter-study heterogeneity caused the very-low quality of evidence (GRADE). We conclude that the currently available evidence does not support the clinical use of duloxetine for the management of acute postoperative pain.

Ammonia recovery from air stripping process applied to landfill leachate treatment.

The leachate is a type of effluent from landfills containing high concentrations of ammonia, even after normal treatment procedures are applied. Due to its characteristic, the leachate can adversely impact the environment and public health. Leachate treatment seeks to remove a series of compounds with adverse characteristics present in this type of effluent. Ammonia nitrogen is the main problem, easily observed in concentrations near 2000 mg/L. The effluents with high concentrations of ammonia nitrogen can stimulate the growth of algae, reduce the dissolved oxygen in rivers, and cause toxicity on the aquatic biota, even in low concentrations. Many research for treatment methods aiming to remove this compound, specifically, have been increasingly deeper, mainly by physical-chemical processes. This study aimed to test the process of air stripping in a closed system and pilot scale, applied on leachate treatment of landfills, to remove the high concentrations of ammonia nitrogen and its recovery by the chemical absorption of ammonia on phosphoric acid, resulting in a product with potential application as agricultural fertilizer, the ammonia phosphate. The leachate flows used were 9, 18, 20, and 40 L/h, and the air flows were 1800 and 3600 L/h. Calcium carbonate (standard grade), commercial hydrated lime (CHL), and sodium hydroxide (standard grade) were used for pH adjustments. To the ammonia recovery, three flasks were used with 2.5 L of a phosphoric acid solution of 0.12 and 0.24 mol/L. The air stripping tower removed an average of 98% of ammoniacal nitrogen, with an operating time of 4 to 9 days. The volume of air consumed to remove 1 g of ammoniacal nitrogen varied from 9, 91, and 21.6 m3. The ammonia recovery was about 92% using a phosphoric acid solution, producing the ammonia phosphate.

Glutamine Therapy Reduces Inflammation and Extracellular Trap Release in Experimental Acute Respiratory Distress Syndrome of Pulmonary Origin.

The innate immune response plays an important role in the pathophysiology of acute respiratory distress syndrome (ARDS). Glutamine (Gln) decreases lung inflammation in experimental ARDS, but its impact on the formation of extracellular traps (ETs) in the lung is unknown. In a mouse model of endotoxin-induced pulmonary ARDS, the effects of Gln treatment on leukocyte counts and ET content in bronchoalveolar lavage fluid (BALF), inflammatory profile in lung tissue, and lung morphofunction were evaluated in vivo. Furthermore, ET formation, reactive oxygen species (ROS) production, glutathione peroxidase (GPx), and glutathione reductase (GR) activities were tested in vitro. Our in vivo results demonstrated that Gln treatment reduced ET release (as indicated by cell-free-DNA content and myeloperoxidase activity), decreased lung inflammation (reductions in interferon-γ and increases in interleukin-10 levels), and improved lung morpho-function (decreased static lung elastance and alveolar collapse) in comparison with ARDS animals treated with saline. Moreover, Gln reduced ET and ROS formation in BALF cells stimulated with lipopolysaccharide in vitro, but it did not alter GPx or GR activity. In this model of endotoxin-induced pulmonary ARDS, treatment with Gln reduced pulmonary functional and morphological impairment, inflammation, and ET release in the lung.

Peripheral T-cell non-Hodgkin lymphoma manifesting as a primary lesion on the lip: A rare case report.

Primary manifestations of extraganglion non-Hodgkin lymphoma (NHL) from T-cells in the oral cavity are rare and often difficult to diagnose. Herein, we describe a case of T-cell NHL with a primary lesion on the lip diagnosed with a 25-year-old woman. The patient reported the appearance of the initial lesion on the upper lip, which advanced to the hard palate and oral mucosa. Histological examination and immunohistochemistry were compatible with peripheral T-cell NHL without further specifications. The proposed treatment consisted of six cycles of multiagent chemotherapy. The patient died from complications of the disease before the third cycle of chemotherapy. Understanding the clinical signs of lymphoma is important for the early diagnosis of this disease to avoid aggressive and potentially fatal behavior.

Burnout, instabilidade no trabalho, distúrbios osteomusculares e absenteísmo em profissionais de saúde: revisão de escopo

RESUMO Objetivo: Mapear a produção científica sobre a Síndrome de Burnout, instabilidade no trabalho, distúrbios osteomusculares relacionados ao trabalho e o absenteísmo em profissionais de saúde. Material e Método: revisão de escopo realizada nas bases de dados: Web of Science, PubMed, Cochrane, LILACS, CINAHL, Scopus, Embase, repositório Google Scholar e na biblioteca virtual SciELO. Foram incluídos estudos quantitativos, qualitativos, estudos primários e revisões, publicados nos últimos 20 anos, nos idiomas português, inglês e espanhol. Resultados: Onze estudos foram selecionados, sendo a maioria transversais, realizados com médicos e enfermeiros de hospitais, os quais evidenciaram que a instabilidade no trabalho se associou ao aumento das cargas e demandas psicológicas, apresentaram relação com o Burnout e o absenteísmo. Conclusão: A Síndrome de Burnout em profissionais de saúde está relacionada com a instabilidade no trabalho e com distúrbios osteomusculares relacionados ao trabalho e ocasionou absenteísmo entre os profissionais de saúde.

ABSTRACT Objective: To map the scientific production on Burnout Syndrome, work instability, work-related musculoskeletal disorders and absenteeism in health professionals. Material and Method: Scoping review conducted in the databases: Web of Science, PubMed, Cochrane, LILACS, CINAHL, Scopus, Embase, Google Scholar repository and SciELO virtual library. We included quantitative and qualitative studies, primary studies and reviews, published in the last 20 years, in Portuguese, English and Spanish. Results: Eleven studies were selected, most of them cross-sectional, conducted with doctors and nurses in hospitals, which showed that work instability was associated with increased psychological loads and demands, showed a relationship with burnout and absenteeism. Conclusion: Burnout syndrome in healthcare professionals is related to work instability and work-related musculoskeletal disorders and caused absenteeism among healthcare professionals.

RESUMEN Objetivo: Mapear la producción científica sobre Síndrome de Burnout, inestabilidad en el trabajo, trastornos musculoesqueléticos relacionados con el trabajo y absentismo en los profesionales sanitarios. Material y Método: Revisión de alcance realizada en las bases de datos: Web of Science, PubMed, Cochrane, LILACS, CINAHL, Scopus, Embase, repositorio Google Scholar y biblioteca virtual SciELO. Se incluyeron estudios cuantitativos y cualitativos, estudios primarios y revisiones, publicados en los últimos 20 años, en idiomas portugués, inglés y español. Resultados: Se seleccionaron 11 estudios, la mayoría transversales, realizados con médicos y enfermeras en hospitales, que mostraron que la inestabilidad en el trabajo se asoció con el aumento de las cargas y demandas psicológicas, mostrando una relación con el burnout y el absentismo laboral. Conclusión: El síndrome de Burnout en los profesionales sanitarios está relacionado con inestabilidad en el trabajo y con trastornos musculoesqueléticos relacionados con el trabajo, y es causa de absentismo entre los profesionales sanitarios.

Spontaneous involution of a unilateral mandibular buccal bifurcation cyst

Introduction: The mandibular buccal bifurcation cyst is a rare inflammatory odontogenic cyst that typically develops at the buccal region of the first or second permanent mandibular molars of children aged 6 to 15 years. The tooth involved is vital and shows an increased probing depth on the buccal surface. Radiographically, it is characterized by a unilocular radiolucent area, well circumscribed on the buccal osseous cortical, that it is difficult to visualize on periapical radiography. The diagnosis is primarily clinical and radiographic, and the treatment is usually the cystic enucleation without extraction of the tooth. Objective: To report a case of spontaneous involution of a unilateral mandibular buccal bifurcation cyst. Case presentation: This report describes the clinical and radiographic characteristics of an unusual case of unilateral buccal bifurcation cyst in a 6-year-old patient, presenting as a slight expansion in the buccal region of the first permanent mandibular molar. The treatment of choice was the clinical and radiographic follow-up due to the spontaneous involution of the cyst. There were no recurrences during follow-up and the tooth remained vital and erupted normally. Conclusions: The possibility of spontaneous involution is a characteristic that must always be observed, in order to avoid unnecessary surgical procedures.(AU)

Introducción: El quiste de bifurcación bucal mandibular es un quiste odontogénico inflamatorio poco frecuente que, en general, se desarrolla en la región bucal de primeros y segundos molares mandibulares permanentes en niños de 6-15 años. El diente involucrado es vital y muestra una mayor profundidad de sondeo en la superficie bucal. Radiográficamente, se caracteriza por un área radiolúcida unilocular, bien circunscrita en la cortical ósea bucal, que es difícil de visualizar en la radiografía periapical. El diagnóstico es principalmente clínico y radiográfico y el tratamiento suele ser la enucleación quística sin extracción del diente. Objetivo: Informar un caso de involución espontánea de un quiste de bifurcación vestibular mandibular unilateral. Presentación del caso: Caso inusual de quiste de bifurcación bucal unilateral en un paciente de 6 años, que se presenta como una ligera expansión de la región vestibular del primer molar mandibular permanente. El tratamiento de elección fue el seguimiento clínico y radiográfico debido a la involución espontánea del quiste. No hubo recurrencias durante el seguimiento y el diente permaneció vital y brotó normalmente. Conclusiones: La posibilidad de involución espontánea es una característica que siempre se debe observar para evitar procedimientos quirúrgicos innecesarios(AU)

Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation.

CONTEXT: A heterozygous missense mutation substituting arginine at position 133 to leucine in the lamin A/C protein has been reported in two young women with clinical features of short stature, bird-like faces, and early onset of aging processes. OBJECTIVE: The objective of the study was to carry out detailed phenotyping of these two women by evaluating the pattern of fat loss using anthropometry, dual-energy x-ray absorptiometry (DEXA), and magnetic resonance imaging (MRI) and study metabolic abnormalities in glucose and lipid metabolism. DESIGN: The study consisted of descriptive case reports. SETTING: The study was conducted at a referral center. PATIENTS: Patient 1 was a 23-yr-old African-American female with progeroid features. Patient 2 was a 24-yr-old Caucasian female with generalized lipodystrophy, hypertriglyceridemia, and severe insulin resistance diabetes who required more than 200 U of insulin daily. INTERVENTIONS: There were no interventions. MAIN OUTCOME MEASURES: Body fat distribution to characterize pattern of lipodystrophy and nuclear morphology abnormalities in skin fibroblasts were studied. RESULTS: Patient 1 had normal body fat (27%) by DEXA. However, MRI revealed relative paucity of sc fat in the distal extremities, with preservation of sc truncal fat. She had impaired glucose tolerance and elevated postprandial serum insulin levels. Patient 2, in contrast, had only 11.6% body fat as determined by DEXA and had generalized loss of sc and intraabdominal fat on MRI. Skin fibroblasts from patient 2 showed marked abnormal nuclear morphology, compared with those from patient 1. Despite the deranged nuclear morphology, the lamin A/C remained localized to the nuclear envelope, and the nuclear DNA remained within the nucleus. CONCLUSIONS: Atypical Werner's syndrome associated with Arg133Leu mutation in the LMNA gene presents with a phenotypically heterogeneous disorder. Furthermore, the severity of metabolic complications seems to correlate with the extent of lipodystrophy.

LMNA mutations in atypical Werner's syndrome.

BACKGROUND: Werner's syndrome is a progeroid syndrome caused by mutations at the WRN helicase locus. Some features of this disorder are also present in laminopathies caused by mutant LMNA encoding nuclear lamin A/C. Because of this similarity, we sequenced LMNA in individuals with atypical Werner's syndrome (wild-type WRN). METHODS: Of 129 index patients referred to our international registry for molecular diagnosis of Werner's syndrome, 26 (20%) had wildtype WRN coding regions and were categorised as having atypical Werner's syndrome on the basis of molecular criteria. We sequenced all exons of LMNA in these individuals. Mutations were confirmed at the mRNA level by RT-PCR sequencing. In one patient in whom an LMNA mutation was detected and fibroblasts were available, we established nuclear morphology and subnuclear localisation. FINDINGS: In four (15%) of 26 patients with atypical Werner's syndrome, we noted heterozygosity for novel missense mutations in LMNA, specifically A57P, R133L (in two people), and L140R. The mutations altered relatively conserved residues within lamin A/C. Fibroblasts from the patient with the L140R mutation had a substantially enhanced proportion of nuclei with altered morphology and mislocalised lamins. Individuals with atypical Werner's syndrome with mutations in LMNA had a more severe phenotype than did those with the disorder due to mutant WRN. INTERPRETATION: Our findings indicate that Werner's syndrome is molecularly heterogeneous, and a subset of the disorder can be judged a laminopathy.

Epidemiological survey of oral lesions in children and adolescents in a Brazilian population.

OBJECTIVES: To identify the most frequent oral lesions in children and adolescents in Reference Units of Oral Lesions of Public Universities of Bahia, Brazil, in the period between 1996 and 2010, and estimate the association between socio-demographic factors and type of oral lesions found. METHODS: Cross-sectional study using secondary data obtained from medical records, records of requests and reports of biopsies from patients aged between 0 and 19 years treated in Reference Units of Oral Lesions of Public Universities in Bahia, Brazil, in the period between 1996 and 2010. For data analysis, we used descriptive analysis of the variables, bivariate analysis by calculating the prevalence ratios (PR) to assess the association between oral lesions and gender, age and skin color, and the analysis of potential modifying and confounding effects by logistic regression modeling. To calculate the p-value of associations, we used the chi-square test, and p<0.05 was considered statistically significant. RESULTS: There were 360 records of patients between 0 and 19 years (8.7% of total records). The results revealed 72 different types of lesions. The most prevalent lesions were mucoceles (14.2%), fibroma (5.6%) and pyogenic granuloma (5.3%). The variable "age" was the only socio-demographic characteristics among those analyzed that showed a statistically significant association with both neoplastic and non-neoplastic lesions, according to bivariate analysis, considering the rates adjusted for potential confounders. Neoplastic lesions appeared more often in the age group 0-9 years, while the non-neoplastic lesions were more prevalent in individuals 10-19 years. There was no effect modification noted in the predictive models analyzed. CONCLUSIONS: The study identified the existence of a broad range of oral lesions affecting children and adolescents. Most of the lesions found were of the non-neoplastic type. The age of individuals was associated with the type of oral lesion found.