Human Gut Microbiota Composition Associated with International Travels.

OBJECTIVE: The objective of this study was to evaluate whether long stays in non-European countries influence the composition, diversity, and dynamics of gut microbiota, considering the potential impact of travelling, close contact with new people, and consumption of water and food. METHODS: Two prospective cohorts were analyzed: (i) A longitudinal cohort comprising long-term travellers who provided fecal samples before and after their travels. (ii) A cohort consisting of long-term travellers and recently arrived migrants from non-European countries, which was compared with non-traveller controls. Each participant self-collected fecal samples and provided demographic and epidemiological data. Microbiota was characterized through 16S rRNA gene sequencing. RESULTS: The longitudinal cohort comprised 17 subjects. A trend toward higher bacterial diversity was observed after travelling (Shannon index 3.12vs3.26). When comparing 84 travellers/migrants with 97 non-travellers, a confirmed association of higher diversity levels with travelling was observed (Phylogenetic diversity: 22.1vs20.9). Specific genera enriched in travellers' gut microbiota were identified, including Escherichia/Shigella, Bacteroides, and Parabacteroides. The analysis revealed three major clusters with profound differences in their bacterial composition, which exhibited differential distribution between travellers and non-travellers (Adonis P<0.001; R2=30.6%). Two clusters were more frequently observed in travellers: The first cluster, characterized by dominance of Escherichia/Shigella, exhibited the lowest levels of richness and diversity. The second cluster, dominated by Faecalibacterium and Bacteroides, displayed the highest richness and diversity patterns. CONCLUSION: These findings highlight the diverse impact of international travel on gut microbiota composition and underscore the importance of considering microbiota resilience and diversity in understanding the health implications.

Who Posts on Instagram? Using Natural Language Processing to Assess the Relationship Between Training Background and Content of 700,000 Posts.

Background: Instagram (Menlo Park, CA) is a major platform for the dissemination of plastic surgery (PS) information, but the training background of users is difficult to ascertain. Objectives: We sought to better characterize the source and content of PS-related posts on Instagram. Methods: Metadata from publicly available Instagram posts containing PS relevant hashtags was collected from December 2018 to August 2020 using Node.js (Node.js Foundation, San Francisco, CA). The data was characterized by account type, and post topics were analyzed using a custom dictionary of PS procedures applied with natural language processing. All data analyses were performed with R (The R Foundation, Vienna, Austria). Results: Board-certified plastic surgeons account for 38% of posts on Instagram, followed by organizations (31%), nonplastics-trained physicians (19%), facial plastics (5%), oculoplastics (1%), and nonphysician providers (5%). Oculoplastics had the highest engagement rate with their posts (3.7 ± 5.1), whereas plastic surgeons had the lowest (2.7 ± 4.2). Breast aesthetics was the predominant topic posted by plastic surgeons (42%, P < .001), and board certification phrases distinguished their posts from other account types (23%, P < .001). Nonphysician posts focused on nonsurgical aesthetics like Botox and fillers (80%). However, nonplastics-trained physicians and organizations significantly contributed to procedural subcategories in a similar distribution to plastic surgeons. Conclusions: Board-certified plastic surgeons are not the predominant source of PS content on Instagram. Furthermore, posts by plastic surgeons have the lowest rate of engagement out of all account types studied. Although declarations of board certification distinguish content from plastics disciplines, they are only used in 21% of posts.

Data driven surrogate signal extraction for dynamic PET using selective PCA: time windows versus the combination of components.

Respiratory motion correction is beneficial in PET, as it can reduce artefacts caused by motion and improve quantitative accuracy. Methods of motion correction are commonly based on a respiratory trace obtained through an external device (like the Real Time Position Management System) or a data driven method, such as those based on dimensionality reduction techniques (for instance PCA). PCA itself being a linear transformation to the axis of greatest variation. Data driven methods have the advantage of being non-invasive, and can be performed post-acquisition. However, their main downside being that they are adversely affected by the tracer kinetics of the dynamic PET acquisition. Therefore, they are mostly limited to static PET acquisitions. This work seeks to extend on existing PCA-based data-driven motion correction methods, to allow for their applicability to dynamic PET imaging. The methods explored in this work include; a moving window approach (similar to the Kinetic Respiratory Gating method from Schleyer et al.), extrapolation of the principal component from later time points to earlier time points, and a method to score, select, and combine multiple respiratory components. The resulting respiratory traces were evaluated on 22 data sets from a dynamic 18FFDG study on patients with Idiopathic Pulmonary Fibrosis. This was achieved by calculating their correlation with a surrogate signal acquired using a Real Time Position Management System. The results indicate that all methods produce better surrogate signals than when applying conventional PCA to dynamic data (for instance, a higher correlation with a gold standard respiratory trace). Extrapolating a late time point principal component produced more promising results than using a moving window. Scoring, selecting, and combining components held benefits over all other methods. This work allows for the extraction of a surrogate signal from dynamic PET data earlier in the acquisition and with a greater accuracy than previous work. This potentially allows for numerous other methods (for instance, respiratory motion correction) to be applied to this data (when they otherwise could not be previously used).

Three-Dimensional Anthropometric Analysis of the Effect of Lip Reconstructive Surgery on Children with Cleft Lip and Palate at Three Different Times.

OBJECTIVES: This investigation aimed to assess the optimal timing for lip repair in children with cleft lip and palate via 3D anthropometric analysis to evaluate their maxillofacial structures. METHODS: The sample comprised 252 digitized dental models, divided into groups according to the following timing of lip repair: G1 (n = 50): 3 months; G2 (n = 50): 5 and 6 months; G3 (n = 26): 8 and 10 months. Models were evaluated at two-time points: T1: before lip repair; T2: at 5 years of age. Linear measurements, area, and Atack index were analyzed. RESULTS: At T1, the intergroup analysis revealed that G1 had statistically significant lower means of I-C', I-C, C-C', and the sum of the segment areas compared to G2 (p = 0.0140, p = 0.0082, p = 0.0004, p < 0.0001, respectively). In addition, there was a statistically significant difference when comparing the cleft area between G2 and G3 (p = 0.0346). At T2, the intergroup analysis revealed that G1 presented a statistically significant mean I-C' compared to G3 (p = 0.0461). In the I-CC' length analysis, G1 and G3 showed higher means when compared to G2 (p = 0.0039). The I-T' measurement was statistically higher in G1 than in G2 (p = 0.0251). In the intergroup growth rate analysis, G1 and G2 showed statistically significant differences in the I-C' measurement compared to G3 (p = 0.0003). In the analysis of the Atack index, there was a statistically significant difference between G1 and the other sample sets (p < 0.0001). CONCLUSION: Children who underwent surgery later showed better results in terms of the growth and development of the dental arches.

A synthetic high-voltage power line insulator images dataset.

High-voltage power line insulators are crucial for safe and efficient electricity transmission. However, real-world image limitations, particularly regarding dirty insulator strings, delay the development of robust algorithms for insulator inspection. This dataset addresses this challenge by creating a novel synthetic high-voltage power line insulator image database. The database was created using computer-aided design softwares and a game development engine. Publicly available CAD models of high-voltage towers with the most common insulator types (polymer, glass, and porcelain) were imported into the game engine. This virtual environment allowed for the generation of a diverse dataset by manipulating virtual cameras, simulating various lighting conditions, and incorporating different backgrounds such as mountains, forests, plantation, rivers, city and deserts. The database comprises two main sets: The Image Segmentation Set, which includes 47,286 images categorized by insulator material (ceramic, polymeric, and glass) and landscape type (mountains, forests, plantation, rivers, city and deserts). Moreover, the Image Classification Set that contains 14,424 images simulating common insulator string contaminants: salt, soot, bird excrement, and clean insulators. Each contaminant category has 3,606 images divided into 1,202 images per insulator type. This synthetic database offers a valuable resource for training and evaluating machine learning algorithms for high-voltage power line insulator inspection, ultimately contributing to enhanced power grid maintenance and reliability.

Subclinical vascular, hemodynamic and arterial stiffness changes in adults with cystic fibrosis: cross-sectional observational study.

Cardiovascular diseases can be an emerging complication in cystic fibrosis (CF), as the median life expectancy has improved considerably. The objective of this study was to compare vascular, hemodynamic parameters and arterial stiffness in adult CF patients with healthy participants pared by sex and age, and to assess the factors associated with arterial stiffness in the CF group. This is a cross-sectional observational study. The evaluation of cardiovascular parameters was performed non-invasively using Mobil-O-Graph. 36 individuals with CF and 35 controls were evaluated. The mean arterial pressure (96.71 ± 10.98 versus 88.61 ± 7.40 mmHg, p = 0.0005), cardiac output (4.86 ± 0.57 versus 4.48 ± 0.44 L/min, p = 0.002) and systolic volume (64.30 ± 11.91 versus 49.02 ± 9.31 ml, p < 0.0001) were significantly lower in the CF group. The heart rate was higher in the CF when compared to the control (77.18 ± 10.47 versus 93.56 ± 14.57 bpm, p < 0.0001). The augmentation index (AIx@75) was higher in the CF than control (29.94 ± 9.37 versus 16.52 ± 7.179%, p < 0.0001). In the multivariate model controlled by body mass index and Forced Expiratory Volume in the first second, central systolic blood pressure and reflection coefficient directly related to AIx@75. Negatively related to AIx@75 were age and systolic volume. The adjusted determination coefficient was 87.40%. Individuals with CF presented lower arterial blood pressures and changes in cardiac function with lower stroke volume and cardiac output. The AIx@75, an indirect index of arterial stiffness and direct index of left ventricular overload, is increased in this population. The subclinical findings suggest the need for earlier cardiovascular assessment in this population due to increased risks of cardiovascular disease.

Deep eutectic solvent for the extraction of polycyclic aromatic compounds in fuel, food and environmental samples.

Polycyclic aromatic compounds (PACs) encompass a wide variety of organic analytes that have mutagenic and carcinogenic potentials for human health and are recalcitrant in the environment. Evaluating PACs levels in fuel (e.g., gasoline and diesel), food (e.g., grilled meat, fish, powdered milk, fruits, honey, and coffee) and environmental (e.g., industrial effluents, water, wastewater and marine organisms) samples are critical to determine the risk that these chemicals pose. Deep eutectic solvents (DES) have garnered significant attention in recent years as a green alternative to traditional organic solvents employed in sample preparation. DES are biodegradable, have low toxicities, ease of synthesis, low cost, and a remarkable ability to extract PACs. However, no comprehensive assessment of the use of DESs for extracting PACs from fuel, food and environmental samples has been performed. This review focused on research involving the utilization of DESs to extract PACs in matrices such as PAHs in environmental samples, NSO-HET in fuels, and bisphenols in foods. Chromatographic methods, such as gas chromatography (GC) and high-performance liquid chromatography (HPLC), were also revised, considering the sensibility to quantify these compound types. In addition, the characteristics of DES and advantages and limitations for PACs in the context of green analytical chemistry principles (GAC) and green profile based on metrics provide perspective and directions for future development.

Age-Related Macular Degeneration and Extramacular Drusen: Genetic Associations in the Coimbra Eye Study.

Purpose: To explore the association between the genetics of age-related macular degeneration (AMD) and extramacular drusen (EMD) in patients with and without AMD. Methods: We included 1753 eyes (912 subjects) with phenotypic characterization regarding AMD and EMD. Genetic sequencing and the genetic risk score (GRS) for AMD were performed according to the EYE-RISK consortium methodology. To test for differences in the GRS from EMD cases, AMD cases, and controls, a clustered Wilcoxon rank-sum test was used. The association of AMD, EMD, and the GRS was evaluated using logistic regression models adjusted for age and sex. Individual associations of common risk variants for AMD with EMD were explored. Results: EMD were found in 755 eyes: 252 (14.4%) with AMD and 503 (28.7%) without. In total, 122 eyes (7.0%) had only AMD, and 876 (50.0%) were controls. EMD were strongly associated with AMD (odds ratio [OR], 3.333; 95% confidence interval [CI], 2.356-4.623; P < 0.001). The GRS was associated with an increased risk of AMD (OR, 1.416; 95% CI, 1.218-1.646; P < 0.001) but not with EMD. Individually, the common risk variants ARMS2 rs10490924 (P = 0.042), C3 rs2230199 (P = 0.042), and CETP rs5817082 (P = 0.042) were associated with EMD, after adjustment for AMD, sex, and age. Conclusions: We found a strong association between EMD and AMD, suggesting a common pathogenesis. The GRS for AMD was not associated with EMD, but a partially overlapping genetic basis was suggested when assessing individual risk variants. We propose that EMD per se do not represent an increase in the global genetic risk for AMD.

Complete genome sequences of Clostridioides difficile surveillance isolates representing the top 10 ribotypes from the Emerging Infections Program, United States, 2016.

Ten Clostridioides difficile isolates representing the top 10 ribotypes collected in 2016 through the Emerging Infections Program underwent long-read sequencing to obtain high-quality reference genome assemblies. These isolates are publicly available through the CDC & FDA Antibiotic Resistance Isolate Bank.

Prevalence and Risk Factors for Colonization by Multidrug-Resistant Microorganisms among Long-Term Travelers and Recently Arrived Migrants.

Multidrug-resistant (MDR) bacteria have become one of the most important health problems. We aimed to assess whether international travel may facilitate their spread through the colonization of asymptomatic travelers. A cross-sectional study was conducted (November 2018 to February 2022). Pharyngeal and rectal swabs were obtained from long-term travelers and recently arrived migrants from non-European countries, and an epidemiological survey was performed. Colonization by Gram-negative bacteria and methicillin-resistant Staphylococcus aureus (MRSA) was determined by chromogenic media and MALDI-TOF-MS. Resistance mechanisms were determined by the biochip-based molecular biology technique. Risk factors for colonization were assessed by logistic regression. In total, 122 participants were included: 59 (48.4%) recently arrived migrants and 63 (51.6%) long-term travelers. After their trip, 14 (11.5%) participants-5 (8.5%) migrants and 9 (14.3%) travelers-had rectal colonization by one MDR bacterium. Escherichia coli carrying the extended-spectrum beta-lactamase (ESBL) CTX-M-15 was the most frequent. No participants were colonized by MRSA or carbapenemase-producing Enterobacteriaceae. The only risk factor independently associated with MDR bacterial colonization was previous hospital attention [OR, 95% CI: 10.16 (2.06-50.06)]. The risk of colonization by MDR bacteria among recently arrived migrants and long-term travelers is similar in both groups and independently associated with previous hospital attention.

Aortic pulse wave analysis and functional capacity of heart transplantation candidates: a pilot study.

We compared cardiovascular parameters obtained with the Mobil-O-Graph and functional capacity assessed by the Duke Activity Status Index (DASI) before and after Heart Transplantation (HT) and also compared the cardiovascular parameters and the functional capacity of candidates for HT with a control group. Peripheral and central vascular pressures increased after surgery. Similar results were observed in cardiac output and pulse wave velocity. The significant increase in left ventricular ejection fraction (LVEF) postoperatively was not followed by an increase in the functional capacity. 24 candidates for HT and 24 controls were also compared. Functional capacity was significantly lower in the HT candidates compared to controls. Stroke volume, systolic, diastolic, and pulse pressure measured peripherally and centrally were lower in the HT candidates when compared to controls. Despite the significant increase in peripheral and central blood pressures after surgery, the patients were normotensive. The 143.85% increase in LVEF in the postoperative period was not able to positively affect functional capacity. Furthermore, the lower values of LVEF, systolic volume, central and peripheral arterial pressures in the candidates for HT are consistent with the characteristics signs of advanced heart failure, negatively impacting functional capacity, as observed by the lower DASI score.

A single dose of angiotensin-(1-7) resolves eosinophilic inflammation and protects the lungs from a secondary inflammatory challenge.

OBJECTIVE: Angiotensin-(1-7) [Ang-(1-7)] is a pro-resolving mediator. It is not known whether the pro-resolving effects of Ang-(1-7) are sustained and protect the lung from a subsequent inflammatory challenge. This study sought to investigate the impact of treatment in face of a second allergic or lipopolysaccharide (LPS) challenge. METHODS: Mice, sensitized and challenged with ovalbumin (OVA), received a single Ang-(1-7) dose at the peak of eosinophilic inflammation, 24 h after the final OVA challenge. Subsequently, mice were euthanized at 48, 72, 96, and 120 h following the OVA challenge, and cellular infiltrate, inflammatory mediators, lung histopathology, and macrophage-mediated efferocytic activity were evaluated. The secondary inflammatory stimulus (OVA or LPS) was administered 120 h after the last OVA challenge, and subsequent inflammatory analyses were performed. RESULTS: Treatment with Ang-(1-7) resulted in elevated levels of IL-10, CD4+Foxp3+, Mres in the lungs and enhanced macrophage-mediated efferocytic capacity. Moreover, in allergic mice treated with Ang-(1-7) and then subjected to a secondary OVA challenge, inflammation was also reduced. Similarly, in mice exposed to LPS, Ang-(1-7) effectively prevented the lung inflammation. CONCLUSION: A single dose of Ang-(1-7) resolves lung inflammation and protect the lung from a subsequent inflammatory challenge highlighting its potential therapeutic for individuals with asthma.

Global representativeness and impact of funding sources in cost-effectiveness research on systemic therapies for advanced breast cancer: A systematic review.

BACKGROUND: Breast cancer (BC) is the most incident tumor and, consequently, any new intervention can potentially promote a considerable budget impact if incorporated. Cost-effectiveness (CE) studies assist in the decision-making process but may be influenced by the country's perspective of analysis and pharmaceutical industry funding. METHODS: A systematic review of Medline, Scopus, and Web of Science from January 1st, 2012 to July 8th, 2022 was conducted to identify CE studies of tumor-targeted systemic-therapies for advanced BC. Articles without incremental cost-effectiveness ratio calculations were excluded. We extracted information on the country and class of drug studied, comparator type, authors' conflicts of interest (COI), pharmaceutical industry funding, and authors' conclusions. RESULTS: 71 studies comprising 204 CE assessments were included. The majority of studies were from the United States and Canada (44%), Asia (32%) and Europe (20%). Only 8% were from Latin America and none from Africa. 31% had pharmaceutical industry funding. The most studied drug classes were cyclin-dependent-kinase inhibitors (29%), anti-HER2 therapy (23%), anti-PD(L)1 (11%) and hormone therapy (11%). Overall, 34% of CE assessments had favorable conclusions. Pharmaceutical industry-funded articles had a higher proportion of at least one favorable conclusion (82% vs. 24%, p-value<0.001), European countries analyzed (45% vs. 9%, p-value = 0.003), and CE assessments with same class drug comparators (56% vs. 33%, p-value = 0.004). CONCLUSIONS: Breast cancer CE literature scarcely represents low-and-middle-income countries' perspectives and is influenced by pharmaceutical industry funding which targets European countries', frequently utilizes comparisons within same-drug class, and is more likely to have favorable conclusions.

Breast adiposity: Menopausal status impact and its influence on glycemic and anthropometric metabolic parameters.

CONTEXT: Ectopic fat depots are related to the deregulation of energy homeostasis, leading to diseases related to obesity and metabolic syndrome (MS). Despite significant changes in body composition over women's lifespan, little is known about the role of breast adipose tissue (BrAT) and its possible utilization as an ectopic fat depot in women of different menopausal statuses. OBJECTIVE: We aimed to assess the relationship between BrAT and metabolic glycemic and lipid profiles and body composition parameters in adult women. METHODS: In this cross-sectional study, we enrolled adult women undergoing routine mammograms to perform history and physical examination, body composition assessment, semi-automated assessment of breast adiposity (BA) from mammograms and fasting blood collection for biochemical analysis. Correlations and multivariate regression analysis were used to examine the associations of the BA with metabolic and body composition parameters. RESULTS: Of the 101 participants included in the final analysis, 76.2% were in menopause, and 23.8% were in premenopause. The BA was positively related with fasting plasma glucose, glycated hemoglobin, homeostasis model assessment of insulin resistance, body mass index, waist circumference, body fat percentage, abdominal visceral and subcutaneous fat when adjusted for age among women in postmenopause. Also, the BA was an independent predictor of hyperglycemia and metabolic syndrome. These associations were not present among women in premenopause. CONCLUSION: The BA was related to different adverse body composition and metabolic factors in women in postmenopause. The results suggest that there might be a relevant BrAT endocrine role during menopause, whose mechanisms are yet to be clarified, which thus opens up research perspectives on the subject as well as on clinical settings.

Factors associated with perinatal and neonatal deaths in Sao Tome & Principe: a prospective cohort study.

Background: Neonatal mortality reduction is a global goal, but its factors are seldom studied in most resource-constrained settings. This is the first study conducted to identify the factors affecting perinatal and neonatal deaths in Sao Tome & Principe (STP), the smallest Central Africa country. Methods: Institution-based prospective cohort study conducted at Hospital Dr. Ayres Menezes. Maternal-neonate dyads enrolled were followed up after the 28th day of life (n = 194) for identification of neonatal death-outcome (n = 22) and alive-outcome groups (n = 172). Data were collected from pregnancy cards, hospital records and face-to-face interviews. After the 28th day of birth, a phone call was made to evaluate the newborn's health status. Crude odds ratios and corresponding 95% confidence intervals were obtained. A p value <0.05 was considered statistically significant. Results: The mean gestational age of the death-outcome and alive-outcome groups was 36 (SD = 4.8) and 39 (SD = 1.4) weeks, respectively. Death-outcome group (n = 22) included sixteen stillbirths, four early and two late neonatal deaths. High-risk pregnancy score [cOR 2.91, 95% CI: 1.18-7.22], meconium-stained fluid [cOR 4.38, 95% CI: 1.74-10.98], prolonged rupture of membranes [cOR 4.84, 95% CI: 1.47-15.93], transfer from another unit [cOR 6.08, 95% CI:1.95-18.90], and instrumental vaginal delivery [cOR 8.90, 95% CI: 1.68-47.21], were factors significantly associated with deaths. The odds of experiencing death were higher for newborns with infectious risk, IUGR, resuscitation maneuvers, fetal distress at birth, birth asphyxia, and unit care admission. Female newborn [cOR 0.37, 95% CI: 0.14-1.00] and birth weight of more than 2,500 g [cOR 0.017, 95% CI: 0.002-0.162] were found to be protective factors. Conclusion: Factors such as having a high-risk pregnancy score, meconium-stained amniotic fluid, prolonged rupture of membranes, being transferred from another unit, and an instrumental-assisted vaginal delivery increased 4- to 9-fold the risk of stillbirth and neonatal deaths. Thus, avoiding delays in prompt intrapartum care is a key strategy to implement in Sao Tome & Principe.

Hereditary epidermolysis bullosa: clinical-epidemiological profile of 278 patients at a tertiary hospital in São Paulo, Brazil.

BACKGROUND: Epidermolysis bullosa (EB) is a group of rare hereditary diseases, characterized by fragility of the skin and mucous membranes. Epidemiological data on EB in Brazil are scarce. OBJECTIVES: To describe epidemiological aspects of patients with EB diagnosed in the Dermatology Department of a tertiary hospital, from 2000 to 2022. METHODS: An observational and retrospective study was conducted through the analysis of medical records. The evaluated data included clinical form, sex, family history, consanguinity, age at diagnosis, current age, time of follow-up, comorbidities, histopathology and immunomapping, presence of EB nevi and squamous cell carcinomas (SCC), cause of and age at death. RESULTS: Of 309 patients with hereditary EB, 278 were included. The most common type was dystrophic EB (DEB), with 73% (28.4% dominant DEB, 31.7% recessive DEB and 12.9% pruriginous DEB). Other types were junctional EB with 9.4%, EB simplex with 16.5% and Kindler EB with 1.1%. Women accounted for 53% and men for 47% of cases. Family history was found in 35% and consanguinity in 11%. The mean age at diagnosis was 10.8 years and the current age was 26 years. The mean time of follow-up was nine years. Esophageal stenosis affected 14%, dental alterations affected 36%, malnutrition 13% and anemia 29%. During diagnostic investigation, 72.6% underwent histopathological examination and 92% underwent immunomapping. EB nevi were identified in 17%. Nine patients had SCC. Eleven patients died. STUDY LIMITATIONS: Insufficient data included to medical records, loss to follow-up, and unavailability of genetic testing. CONCLUSIONS: In this study, dystrophic EB predominated and the need for multidisciplinary care for comorbidities and complications was highlighted.

Recurrent Plunging Ranula Due to a Sublingual Ectopic Gland: A Rare Clinical Entity.

Ranula is a benign cystic lesion caused by the escape and collection of salivary mucus. Classically, it is divided into simple ranulas, a cystic mass in the floor of the mouth, and diving/plunging/cervical ranulas, a submandibular mass without apparent intraoral involvement. Although plunging ranula is a well-documented cause of neck swelling, its association with the presence of ectopic sublingual glands is extremely rare, with less than five cases reported. Other cervical cystic lesions may have the same clinical aspect; therefore, advanced diagnostic techniques like a CT scan or MRI play a critical role in early diagnosis. Different approaches have been used to treat ranulas, including non-invasive, minimally invasive, and surgical techniques. The purpose of this paper is to highlight a case report of a giant plunging ranula due to an anatomical aberration of the right sublingual gland, along with a significant literature review.

Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa.

BACKGROUND: Epidermolysis bullosa (EB) is characterized by skin fragility and blistering. In Brazil, the diagnosis is usually obtained through immunomapping, which involves a skin biopsy. Most recently, whole exome sequencing (WES) has become an important tool for the diagnosis of the subtypes of EB, providing information on prognosis as well as allowing appropriate genetic counseling for the families. OBJECTIVE: To compare the results of immunomapping and molecular analysis and to describe the characteristics of a Brazilian cohort of patients with EB. METHODS: Patients were submitted to clinical evaluation and WES using peripheral blood samples. WES results were compared to those obtained from immunomapping testing from skin biopsies. RESULTS: 67 patients from 60 families were classified: 47 patients with recessive dystrophic EB (DEB), 4 with dominant DEB, 15 with EB simplex (EBS), and 1 with junctional EB (JEB). Novel causative variants were: 10/60 (16%) in COL7A1 associated with recessive DEB and 3 other variants in dominant DEB; one homozygous variant in KRT5 and another homozygous variant in PLEC, both associated with EBS. Immunomapping was available for 59 of the 67 patients and the results were concordant with exome results in 37 (62%), discordant in 13 (22%), and inconclusive in 9 patients (15%). STUDY LIMITATIONS: Even though EB is a rare disease, for statistical purposes, the number of patients evaluated by this cohort can still be considered limited; other than that, there was a significant difference between the proportion of types of EB (only one case with JEB, against more than 50 with DEB), which unfortunately represents a selection bias. Also, for a small subset of families, segregation (usually through Sanger sequencing) was not an option, usually due to deceased or unknown parent status (mostly the father). CONCLUSION: Although immunomapping has been useful in services where molecular studies are not available, this invasive method may provide a misdiagnosis or an inconclusive result in about 1/3 of the patients. This study shows that WES is an effective method for the diagnosis and genetic counseling of EB patients.