Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p.

BACKGROUND: The 22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome with highly variable phenotypic manifestations, even though most patients present the typical 3 Mb microdeletion, usually affecting the same ~ 106 genes. One of the genes affected by this deletion is DGCR8, which plays a crucial role in miRNA biogenesis. Therefore, the haploinsufficiency of DGCR8 due to this microdeletion can alter the modulation of the expression of several miRNAs involved in a range of biological processes. RESULTS: In this study, we used next-generation sequencing to evaluate the miRNAs profiles in the peripheral blood of 12 individuals with typical 22q11DS compared to 12 healthy matched controls. We used the DESeq2 package for differential gene expression analysis and the DIANA-miTED dataset to verify the expression of differentially expressed miRNAs in other tissues. We used miRWalk to predict the target genes of differentially expressed miRNAs. Here, we described two differentially expressed miRNAs in patients compared to controls: hsa-miR-1304-3p, located outside the 22q11.2 region, upregulated in patients, and hsa-miR-185-5p, located in the 22q11.2 region, which showed downregulation. Expression of miR-185-5p is observed in tissues frequently affected in patients with 22q11DS, and previous studies have reported its downregulation in individuals with 22q11DS. hsa-miR-1304-3p has low expression in blood and, thus, needs more validation, though using a sensitive technology allowed us to identify differences in expression between patients and controls. CONCLUSIONS: Thus, lower expression of miR-185-5p can be related to the 22q11.2 deletion and DGCR8 haploinsufficiency, leading to phenotypic consequences in 22q11.2DS patients, while higher expression of hsa-miR-1304-3p might be related to individual genomic variances due to the heterogeneous background of the Brazilian population.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic patterns are particularly challenged when confronted with patients from populations different from their training data. To that end, we systematically analyzed the impact of genetic ancestry on facial dysmorphism. For that purpose, we established the GestaltMatcher Database (GMDB) as a reference dataset for medical images of patients with rare genetic disorders from around the world. We collected 10,980 frontal facial images - more than a quarter previously unpublished - from 8,346 patients, representing 581 rare disorders. Although the predominant ancestry is still European (67%), data from underrepresented populations have been increased considerably via global collaborations (19% Asian and 7% African). This includes previously unpublished reports for more than 40% of the African patients. The NGP analysis on this diverse dataset revealed characteristic performance differences depending on the composition of training and test sets corresponding to genetic relatedness. For clinical use of NGP, incorporating non-European patients resulted in a profound enhancement of GestaltMatcher performance. The top-5 accuracy rate increased by +11.29%. Importantly, this improvement in delineating the correct disorder from a facial portrait was achieved without decreasing the performance on European patients. By design, GMDB complies with the FAIR principles by rendering the curated medical data findable, accessible, interoperable, and reusable. This means GMDB can also serve as data for training and benchmarking. In summary, our study on facial dysmorphism on a global sample revealed a considerable cross ancestral phenotypic variability confounding NGP that should be counteracted by international efforts for increasing data diversity. GMDB will serve as a vital reference database for clinicians and a transparent training set for advancing NGP technology.

Chemical contamination affecting filter-feeding bivalves in no-take marine protected areas from Brazil.

Marine protected areas (MPAs) are zones geographically delimited under pre-defined management goals, seeking to reduce anthropogenic threats to biodiversity. Despite this, in recent years reports of MPAs affected by chemical contamination has grown. Therefore, this study addresses this critical issue assessing legacy and current chemical contamination in filter-feeder bivalves obtained in very restrictive no-take MPAs from Brazil. The detected pollutants encompass polycyclic aromatic hydrocarbons (PAHs), linear alkylbenzenes (LABs), and persistent organic pollutants (POPs) like dichlorodiphenyltrichloroethane (DDTs) and polychlorinated biphenyls (PCBs). Despite protective measures, bivalves from nine MPAs exhibited high LABs (13.2-1139.0 ng g-1) and DDTs levels (0.1-62.3 ng g-1). PAHs were present in low concentrations (3.1-29.03 ng g-1), as PCBs (0.7-6.4 ng g-1), hexachlorobenzene (0.1-0.2 ng g-1), and Mirex (0.1-0.3 ng g-1). Regardless of the sentinel species, MPAs and management categories, similar accumulation patterns were observed for LABs, DDTs, PAHs, and PCBs. Based on the limits proposed by Oslo Paris Commission, the measured levels of PAHs, PCBs and were below the environmental assessment criteria. Such findings indicate the no biological effects are expected to occur. However, they are higher considering background conditions typically measured in remote or pristine areas and potential simultaneous exposure. Such findings indicate an influence of anthropogenic sources, emphasizing the urgency for monitoring programs guiding strategic management efforts to safeguard these areas.

Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome.

22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome with a broad and heterogeneous phenotype, even though most of the deletions present similar sizes, involving ∼3 Mb of DNA. In a relatively large population of a Brazilian 22q11.2DS cohort (60 patients), we investigated genetic variants that could act as genetic modifiers and contribute to the phenotypic heterogeneity, using a targeted NGS (Next Generation Sequencing) with a specific Ion AmpliSeq panel to sequence nine candidate genes (CRKL, MAPK1, HIRA, TANGO2, PI4KA, HDAC1, ZDHHC8, ZFPM2, and JAM3), mapped in and outside the 22q11.2 hemizygous deleted region. In silico prediction was performed, and the whole-genome sequencing annotation analysis package (WGSA) was used to predict the possible pathogenic effect of single nucleotide variants (SNVs). For the in silico prediction of the indels, we used the genomic variants filtered by a deep learning model in NGS (GARFIELD-NGS). We identified six variants, 4 SNVs and 2 indels, in MAPK1, JAM3, and ZFPM2 genes with possibly synergistic deleterious effects in the context of the 22q11.2 deletion. Our results provide the opportunity for the discovery of the co-occurrence of genetic variants with 22q11.2 deletions, which may influence the patients´ phenotype.

A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC).

BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous syndrome with variable phenotypes. Recent updates of TSC diagnostic criteria reaffirmed the defined genetic diagnostic criterion as the finding of a pathogenic DNA alteration in either TSC1 or TSC2 genes. It also slightly modified definite clinical diagnostic criteria. TSC-associated skin lesions in infancy are important clinical signs to select individuals with possible TSC for a closer clinical follow-up and genetic testing. OBJECTIVE: To raise awareness of the updated TSC diagnosis criteria; to assess the frequency of skin lesions in TSC patients as well as the first dermatological presentation; and to associate the findings with either TSC1 or TSC2 mutations. METHODS: Observational cross-sectional study. Clinical and genetic data were retrospectively collected from 37 TSC patients from a Brazilian University Hospital. Patients with skin signs were examined and prospectively assessed for 12 months. RESULTS: The earliest cutaneous lesions were hypomelanotic macules, which together with angiofibromas were the most frequent dermatological lesions. The total pathogenic DNA alteration ratio between TSC2 and TSC1 genes was 8:1. The frequency of a TSC2 pathogenic variant was 10-fold greater in the presence of ungual fibromas. STUDY LIMITATIONS: Small sample and a limited number of patients with TSC1 pathogenic variants. CONCLUSION: Clinicians should be knowledgeable about TSC updated diagnostic criteria. Patients need to be followed up by a multidisciplinary team and treated accordingly. Early detection of cutaneous lesions is important for TSC diagnosis. A significant association between TSC2 gene pathogenic alterations and ungual fibromas is described.

Cold Agglutinin Syndrome and Hemophagocytic Lymphohistiocytosis: An Unusual Combination Caused by Epstein-Barr Virus Infection.

Autoimmune hemolytic anemia (AIHA) and hemophagocytic lymphohistiocytosis (HLH) are rare complications of infectious mononucleosis. The authors describe a 12-year-old male with acute infectious mononucleosis, hepatitis, cholestasis, and an autoimmune hemolytic disorder caused by cold agglutinins IgM (anti-i specificity). Clinical deterioration with persistent fever, anemia, and hepatosplenomegaly was consistent with cold AIHA plus concomitant HLH. The patient was treated with corticosteroids and acyclovir, with an uneventful recovery. Although rare, cold agglutinin syndrome and HLH can complicate infectious mononucleosis and should be considered in a patient with clinical deterioration. Corticosteroids are the mainstay treatment of HLH and may be beneficial in infection-associated cold agglutinin syndrome.

Actinomycetoma by Cellulosimicrobium cellulans in a Young Man from Guinea-Bissau: Short Literature Review Regarding a Case Report.

Mycetoma is caused by the subcutaneous inoculation of filamentous fungi or aerobic filamentous bacteria. Cellulosimicrobium cellulans is a gram-positive bacterium from the order Actinomycetales that rarely causes human disease. The diagnosis is based on the clinical presentation and identification of the causative microorganism. We present a short literature review regarding the case report of a young man diagnosed with actinomycetoma due to Cellulosimicrobium cellulans and who received treatment with an association of amikacin and sulfamethoxazole/ trimethoprim (Welsh regimen).

GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases.

Dysmorphologists sometimes encounter challenges in recognizing disorders due to phenotypic variability influenced by factors such as age and ethnicity. Moreover, the performance of Next Generation Phenotyping Tools such as GestaltMatcher is dependent on the diversity of the training set. Therefore, we developed GestaltMatcher Database (GMDB) - a global reference for the phenotypic variability of rare diseases that complies with the FAIR-principles. We curated dysmorphic patient images and metadata from 2,224 publications, transforming GMDB into an online dynamic case report journal. To encourage clinicians worldwide to contribute, each case can receive a Digital Object Identifier (DOI), making it a citable micro-publication. This resulted in a collection of 2,312 unpublished images, partly with longitudinal data. We have compiled a collection of 10,189 frontal images from 7,695 patients representing 683 disorders. The web interface enables gene- and phenotype-centered queries for registered users (https://db.gestaltmatcher.org/). Despite the predominant European ancestry of most patients (59%), our global collaborations have facilitated the inclusion of data from frequently underrepresented ethnicities, with 17% Asian, 4% African, and 6% with other ethnic backgrounds. The analysis has revealed a significant enhancement in GestaltMatcher performance across all ethnic groups, incorporating non-European ethnicities, showcasing a remarkable increase in Top-1-Accuracy by 31.56% and Top-5-Accuracy by 12.64%. Importantly, this improvement was achieved without altering the performance metrics for European patients. GMDB addresses dysmorphology challenges by representing phenotypic variability and including underrepresented groups, enhancing global diagnostic rates and serving as a vital clinician reference database.

Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting.

Parry Romberg syndrome (PRS) is an acquired neurocutaneous syndrome with uncertain pathophysiology, and its incidence is unknown. Usually, the disease becomes apparent during the first decade of life or early during the second decade, but it can also occur in adulthood, and it is more common in females. The main feature is slowly progressive hemiatrophy (thinning or shrinkage) of the facial tissues, typically fat, skin, connective tissues, muscle, and sometimes bone. In some people, atrophy may also affect the trunk and the limbs. Additional symptoms can potentially develop in some patients, including ophthalmological, psychiatric, and neurological complications. The clinical presentation serves as a guide for the diagnosis. Treatment can demand a multidisciplinary approach (maxillofacial surgeons, plastic surgeons, ophthalmologists, neurologists, dermatologists, psychiatrists, anesthetists, and family doctors). Patients can undergo restorative plastic surgery to improve their appearance, with highly variable success rates. We present a case report of a 52-year-old man who made an appointment at the family care unit (FCU) because of a left facial hemiatrophy that started progressing two to three months before, and he was afraid it might be cancer. At the physical exam, it was possible to examine a slight hemiatrophy in two different parts of the left side of the patient's face (the nasolabial-masseter region and the temporal-malar region). The facial CT scan showed a low degree of maxillary bone resorption. Through discussion with peers on the Family Doctor team, the diagnosis of a rare condition in the primary care setting was made possible. This case shows the importance of being aware of a rare disease despite working as a family physician and aims to make more people familiar with this syndrome. It also raises awareness about the need for discussion of clinical cases as a team.

Efficacy of silymarin in patients with non-alcoholic fatty liver disease - the Siliver trial: a study protocol for a randomized controlled clinical trial.

BACKGROUND: Non-alcoholic fatty liver disease (NAFLD) is one of the most prevalent liver diseases globally. Pharmacological treatments for NAFLD are still limited. Silymarin, a compound extracted from Silybum marianum, is an herbal supplement traditionally used in folk medicine for liver disorders. It has been proposed that silymarin may possess hepatoprotective and anti-inflammatory properties. The present trial aims to assess the efficacy of silymarin supplementation in the adjuvant treatment of NAFLD in adult patients. METHOD: This is a randomized double-blind placebo-controlled clinical trial recruiting adult NAFLD patients in therapy on an outpatient basis. Participants are randomized to an intervention (I) or control (C) group. Both groups receive identical capsules and are followed for 12 weeks. I receives 700mg of silymarin + 8mg vitamin E + 50mg phosphatidylcholine daily, while C receives 700mg maltodextrin + 8mg vitamin E + 50mg phosphatidylcholine daily. Patients undergo a computerized tomography (CT) scan and blood tests at the beginning and end of the study. Monthly face-to-face consultations and weekly telephone contact are carried out for all participants. The primary outcome assessed will be change in NAFLD stage, if any, assessed by the difference in attenuation coefficient between liver and spleen, obtained by upper abdomen CT. DISCUSSION: The results of this study may provide a valuable opinion on whether silymarin can be used as adjuvant therapy for the management or treatment of NAFLD. The data presented on the efficacy and safety of silymarin may provide more foundation for further trials and for a possible use in clinical practice. TRIAL REGISTRATION: This study has been approved by the Research Ethics Committee of the Professor Edgard Santos University Hospital Complex, Salvador BA, Brazil, under protocol 2.635.954. The study is carried out according to guidelines and regulatory standards for research involving humans, as set out in Brazilian legislation. Trial registration - ClinicalTrials.gov : NCT03749070. November 21, 2018.

Antifouling booster biocides in Latin America and the Caribbean: A 20-year review.

This review summarized booster biocides studies from Latin America and the Caribbean during the last two decades. Studies were focused on six countries, with most of them in Brazil. In water and sediment, diuron and Irgarol were the most abundant and frequent biocides, probably due to their former intense use. Antifouling paint particles were also reported and had mainly DCOIT, which is currently the most used booster biocide. Toxicity of individual booster biocides was tested in laboratory, and most effects were related to chlorothalonil, DCOIT, dichlofluanid, and Irgarol, including, but not limited to DNA damage, fertility decrease, and mortality at different trophic levels. This review highlighted the need for further studies on environmental occurrence of booster biocides in Latin America and Caribbean associated to ecotoxicological studies. Such information is essential to determine the potential ecological risks and to create directives regarding safe limits of booster biocides in aquatic systems.

A global snapshot of microplastic contamination in sediments and biota of marine protected areas.

Microplastics (MPs) become ubiquitous contaminants in Marine Protected Areas (MPA) that have been planned as a conservation strategy. The present study provides a comprehensive overview of the occurrence, abundance, and distribution of MPs potentially affecting MPA worldwide. Data on MP occurrence and levels in sediment and biota samples were collected from recent peer-reviewed literature and screened using a GIS-based approach overlapping MP records with MPA boundaries. MPs were found in 186 MPAs, with levels ranging from 0 to 9187.5 items/kg in sediment and up to 17,461.9 items/kg in organisms. Peaked MPs concentrations occurred within multiple-use areas, and no-take MPAs were also affected. About half of MP levels found within MPA fell into the higher concentration quartiles, suggesting potential impacts on these areas. In general, benthic species were likely more affected than pelagic ones due to the higher concentrations of MP reported in the tissues of benthic species. Alarmingly, MPs were found in tissues of two threatened species on the IUCN Red List. The findings denote urgent concerns about the effectiveness of the global system of protected areas and their proposed conservation goals.

Microplastic contamination in seawater across global marine protected areas boundaries.

Despite the relatively rich literature on the omnipresence of microplastics in marine environments, the current status and ecological impacts of microplastics on global Marine Protected Areas (MPAs) are still unknown. Their ubiquitous occurrence, increasing volume, and ecotoxicological effects have made microplastic an emerging marine pollutant. Given the critical conservation roles of MPAs that aim to protect vulnerable marine species, biodiversity, and resources, it is essential to have a comprehensive overview of the occurrence, abundance, distribution, and characteristics of microplastics in MPAs including their buffer zones. Here, extensive data were collected and screened based on 1565 peer-reviewed literature from 2017 to 2020, and a GIS-based approach was applied to improve the outcomes by considering boundary limits. Microplastics in seawater samples were verified within the boundaries of 52 MPAs; after including the buffer zones, 1/3 more (68 MPAs) were identified as contaminated by microplastics. A large range of microplastic levels in MPAs was summarized based on water volume (0-809,000 items/m3) or surface water area (21.3-1,650,000,000 items/km2), which was likely due to discrepancy in sampling and analytical methods. Fragment was the most frequently observed shape and fiber was the most abundant shape. PE and PP were the most common and also most abundant polymer types. Overall, 2/3 of available data reported that seawater microplastic levels in MPAs were higher than 12,429 items/km2, indicating that global MPAs alone cannot protect against microplastic pollution. The current limitations and future directions were also discussed toward the post-2020 Global Biodiversity Framework goals.

Health-related quality of life of salvage prostate reirradiation using stereotactic ablative radiotherapy with urethral-sparing.

Purpose: To explore whether prostate motion mitigation using the rectal distension-mediated technique is safe and effective in stereotactic ablative radiation therapy (SABR) salvage treatment of intraprostatic cancer recurrences following initial radiotherapy for primary prostate cancer. Materials and methods: Between July 2013 and December 2020, 30 patients received salvage SABR for 68Ga- PSMA-11 PET/CT-detected intra-prostatic relapses. Median time from primary RT to salvage reirradiation was 70.2 (IQR, 51.3-116.0) months. Median PSA at retreatment was 3.6 ng/mL (IQR, 1.9-6.2). Rectal distension-mediated SABR was achieved with a 150-cm3 air-inflated endorectal balloon and a Foley catheter loaded with 3 beacon transponders was used for urethra visualization and on-line tracking. MRI-based planning employed a 2-mm expansion around the planned target volume (PTV), reduced to 0-mm at the interface with critical organs at risk (OARs). Volumetric Modulated Arc Therapy (VMAT) permitted a 20% dose reduction of the urethra. VMAT simultaneous integrated boost (SIB) of the dominant intraprostatic lesion was deployed when indicated. Median SABR dose was 35 Gy (7 Gy per fraction over 5 consecutive days; range 35-40 Gy). Toxicity assessment used CTCAE v.4 criteria. Results: Median follow-up was 44 months (IQR, 18-60). The actuarial 3- and 4-year biochemical relapse free survival was 53.4% and 47.5%, respectively. Intraprostatic post-salvage relapse by PSMA PET/CT was 53.3%. Acute grade 2 and 3 genitourinary (GU) toxicities were 20% and 0%, respectively. There were no instances of acute grade ≥2 rectal (GI) toxicity. Late grade 2 and 3 GU toxicities occurred in 13.3% and 0% of patients, respectively. There were no instances of grade ≥2 late rectal toxicity. Patient-reported QOL measures showed an acute transient deterioration in the urinary domain 1 month after treatment but returned to baseline values at 3 months. The median IPSS scores rose over baseline (≥5 points in 53% of patients) between month 6 and 12 post-treatment as a result of urinary symptoms flare, eventually receding at 18 months. The bowel domain metrics had no appreciable changes over time. Conclusion: Pursuit of local control in intraprostatic failures is feasible and can be achieved with an acceptably low toxicity profile associated with effective OAR sparing.

Interferência do histórico de cirurgias não cardiovasculares no TTR (Time in Therapeutic Range): uma avaliação em idosos anticoagulados com varfarina / Interference of the history of non-cardiovascular surgeries in the TTR (Time in Therapeutic Range): an evaluation in elderly anticoagulated with warfarin

INTRODUÇÃO E/OU FUNDAMENTOS: O TTR (Time in Therapeutic Range) é um dos parâmetros utilizados para auxiliar a avaliação do tratamento de pacientes em uso de varfarina. Conceitualmente, é o intervalo de tempo em que os pacientes anticoagulados estão com o valor do INR dentro do desejado. Em idosos, sua utilização pode culminar em complicações graves, principalmente relacionadas a sangramentos; sendo cada vez mais relevante o conhecimento de fatores que podem influenciar no manejo desta medicação. O objetivo deste estudo foi avaliar se o histórico prévio de cirurgias não cardiovasculares possui alguma interferência no TTR. MÉTODOS: Realizado estudo retrospectivo, descritivo e observacional, a partir da coleta de dados em prontuários, durante o período de 2019/2020. Incluídos pacientes com 70 anos ou mais, portadores de fibrilação atrial (FA), em anticoagulação oral com varfarina, acompanhados em ambulatório de cardiogeriatria. Utilizou-se para análise estatística o programa Jamovi 2.2.5 Solid. As 2 variáveis quantitativas independentes comparadas foram o histórico prévia de cirurgia não cardiovascular e TTR > 50% do tempo total de tratamento. A análise estatística específica incluiu: o teste qui quadrado, teste exato de fisher, odds ratio e risco relativo. RESULTADOS: Dentre os 107 pacientes avaliados, 85 (85.9%) tinham sido submetidos previamente a cirurgias não cardiovasculares. Ademais, 70 pacientes (65.4%) apresentaram TTR maior que 50% e 37 (34.5%), menor que 50%. DISCUSSÃO: O teste de qui quadrado (p = 0.014) e teste exato de fisher (p=0.017) resultaram em uma associação estatisticamente relevante entre as variáveis; sendo o histórico de cirurgia prévia possivelmente um fator protetor, a partir da medida de risco relativo (0.652; 0.527-0.807).CONCLUSÕES: Diante dos dados apresentados, a história prévia de cirurgia não cardiovascular pode ser considerada como fator de influência sobre o TTR em pacientes anticoagulados com varfarina. É sugerido que uma das possíveis causas desta associação seria a maior adesão ao seguimento médico regular após procedimentos invasivos. No entanto, a confirmação desta associação e suas etiologias necessitam de estudos mais específicos e robustos.

Prevalência de polifarmácia em idosos portadores de fibrilação atrial / Prevalence of polypharmacy in elderly patients with atrial fibrillation

INTRODUÇÃO E/OU FUNDAMENTOS: A fibrilação atrial (FA) é arritmia muito prevalente entre idosos. Seu manejo envolve anticoagulação, controle de frequência cardíaca ou ritmo e manejo de comorbidades associadas. A polifarmácia, por sua vez, possui diversas definições, entre elas, uso de cinco ou mais medicamentos ou uso de pelo menos um medicamento potencialmente inapropriado. A presença de polifarmácia aumenta a prevalência de problemas relacionados a medicamentos, entre eles: risco do uso de medicamentos inadequados, interações medicamentosas, duplicação de terapia, má adesão ao tratamento e efeitos adversos. O objetivo deste estudo foi avaliar a prevalência da polifarmácia em idosos portadores de FA e anticoagulados com varfarina. MÉTODOS: Realizado estudo retrospectivo, descritivo e observacional, a partir da coleta de dados em prontuários, no período de 2019/2020. Incluídos pacientes com 70 anos ou mais, portadores de FA e anticoagulados com varfarina, acompanhados em ambulatório de Cardiogeriatria. A polifarmácia foi classificada como uso igual ou maior de 5 medicações. As variáveis quantitativas foram apresentadas em forma de média e gráficos, com valores expressos em percentuais e/ou porcentagem e prevalência; além do teste qui quadrado. RESULTADOS: Foram avaliados 107 pacientes, sendo 59 (55.1%) mulheres. A média de idade foi de 79 anos, com o valor mínimo de 70 e máximo de 93 anos. Dentre os pacientes avaliados, 72 pacientes (67.2%) estavam em polifarmácia e 35 (32.7%) utilizavam até 4 medicações. Nos pacientes em polifarmácia, 40 (55.5%) eram do sexo feminino e 32 (44.4%) do sexo masculino; sendo o sexo não considerado relevante estatisticamente para um maior risco de polifarmácia (p=0.950). DISCUSSÃO: Todos os pacientes avaliados recebiam varfarina, sendo que 70 (65.4%) apresentavam tempo na faixa terapêutica (TTR) superior a 50%. Quedas nos últimos 12 meses foram registradas em 35 pacientes (33%). Não foi encontrada associação estatística significante com estas variáveis ­ TTR e quedas com a presença de polifarmácia (p=0,101; 0.596 respectivamente). CONCLUSÕES: Na população estudada, observou-se alta prevalência de polifarmácia, especialmente entre mulheres e possivelmente associado a múltiplas comorbidades. Este dado, em associação com o uso de varfarina, é potencialmente capaz de aumentar o risco de desfechos adversos, incluindo quedas. Todavia, é necessária a realização de estudos de maior porte objetivando conclusões mais concretas sobre esta associação.

Risco de quedas em idosos portadores de fibrilação atrial: uma avaliação baseada na escala de Dowton / Risk of falls in elderly patients with atrial fibrillation: an assessment based on the Dowton scale

INTRODUÇÃO E/OU FUNDAMENTOS: Quedas são a segunda causa mais comum de morte entre idosos e geram impacto negativo na funcionalidade e qualidade de vida. Risco elevado de queda, histórico de quedas e/ou de complicações hemorrágicas podem ser considerados fatores importantes para a decisão de suspender a anticoagulação em idosos portadores de fibrilação atrial (FA). Para avaliação de risco de queda, pode-se utilizar o Fall Risk Score ou Escala de Dowton, composta por 5 critérios, sendo considerado como alto risco de queda paciente com pontuação igual ou superior a 3 pontos. O objetivo deste estudo foi avaliar a prevalência de risco de quedas entre idosos portadores de FA e anticoagulados com varfarina. MÉTODOS: Estudo retrospectivo, descritivo e observacional, a partir da coleta de dados em prontuários, durante o período de 2019/2020. Incluídos pacientes com 70 anos ou mais, portadores de FA, em uso de varfarina, acompanhados em ambulatório de cardiogeriatria. As variáveis analisadas foram sexo, idade, risco de quedas (a partir da escala de Dowton) e provavél sarcopenia (pela escala SARC-F). As variáveis quantitativas foram apresentadas em forma de média e gráficos, com valores expressos em percentuais e/ou porcentagem e prevalência. Utilizou-se para análise estatística o programa Microsoft Excel 2010. RESULTADOS: Foram avaliados 37 pacientes, sendo 22 mulheres (59.4%) e 15 homens (40.5%). A média de idade foi de 79 anos, com o valor mínimo de 71 e máximo de 88 anos. A moda de idade foi de 82 anos, vista em 6 pacientes (16.2%). O risco de quedas foi considerado elevado em 22 pacientes (59.4%) e médio em 15 (40.5%). DISCUSSÃO: Nenhum paciente foi classificado como risco baixo de quedas nesta amostra. Observou-se, ainda, que 28 pacientes (75.6%) foram considerados sem sarcopenia pela escala SARC-F e 9 (24.3%) apresentaram sarcopenia provável. CONCLUSÕES: Diante dos dados apresentados, observou-se que a população do estudo possuía idade média elevada e que a maioria possuía risco de queda alto. Considerando tratar-se de um grupo em uso de anticoagulação oral, pode-se inferir que, apesar do alto risco para quedas, este não foi um fator limitante para o uso da medicação. Por outro lado, a baixa prevalência de pacientes com sarcopenia provável pode indicar que este tenha sido um fator para a suspensão da varfarina entre portadores de FA em momento anterior a este estudo, comprometendo, assim, a análise da relação entre sarcopenia e risco de queda nesta amostra.

Molecular detection of Metastrongylus salmi eggs from pigs in low-resource communities in the state of Piauí, northeastern Brazil.

Metastrongylosis is an infection of the respiratory tract of pigs caused by parasites of the genus Metastrongylus, whose eggs are similar to other Strongylida through light microscopy; species-specific identification can be performed with molecular tools. We explored the species composition and the genetic diversity of Metastrongylus infecting pigs in close contact with humans in impoverished rural communities in the state of Piauí, in northeastern Brazil. Fecal samples (n = 78) were collected for parasitologic tests. Egg morphometry and molecular characterization, using the cytochrome c oxidase subunit 1 (cox1) gene, were performed. For strongyliform eggs, 62 of 78 (80%) pigs were positive and 6 of 99 (6%) eggs had dimensions compatible with Metastrongylus. Of the 37 samples submitted to PCR, 10 were identified as M. salmi. We found 3 M. salmi haplotypes, including 2 new and 1 described previously in Europe. Overall, M. salmi demonstrated lower intraspecific genetic diversity: diversity index (H) ± SD = 0.318 ± 0.164, n = 12, compared with published M. pudendotectus sequences (1.000 ± 0.272, n = 3). To our knowledge, M. salmi DNA sequences have not been published previously from pigs in South America.

Genotypic and Epidemiologic Profiles of Giardia duodenalis in Four Brazilian Biogeographic Regions

Human infections with gut protozoan parasites are neglected and not targeted by specific control initiatives, leading to a knowledge gap concerning their regional diversity and epidemiology. The present study aims to explore Giardia duodenalis genetic diversity and assess the epidemiologic scenario of subclinical infections in different Brazilian biogeographic regions. Cross-sectional surveys (n = 1334 subjects) were conducted in four municipalities in order to obtain fecal samples and socioenvironmental data. Microscopy of non-diarrheal feces and nucleotide sequencing of a ß-giardin gene fragment were performed. From a total of 51 samples that could be sequenced, 27 (52.9%) ß-giardin sequences were characterized as assemblage A and 24 (47.1%) as assemblage B. In the Amazon, assemblage B was the most frequently detected, predominantly BIII, and with two novel sub-assemblages. Assemblage A predominated in the extra-Amazon region, with five novel sub-assemblages. Prevalence reached 17.8% (64/360) in the Amazon, 8.8% (48/544) in the Atlantic Forest, 7.4% (22/299) in Cerrado and 2.3% (3/131) in the Semiarid. People living in poverty and extreme poverty presented significantly higher positivity rates. In conclusion, subclinical giardiasis is endemic in Brazilian communities in different biogeographic regions, presenting high genetic diversity and a heterogeneous genotypic distribution.