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1.
Front Vet Sci ; 11: 1380415, 2024.
Article in English | MEDLINE | ID: mdl-38818493

ABSTRACT

Narcotic Detection Dogs (NDDs) are essential tools in the fight against drug trafficking, acting with high precision and improving efficiency at border posts. When trained efficiently, these dogs can detect a great variety of compounds, such as cocaine, marijuana and its derivatives, and synthetic drugs, among others. Most of the knowledge on canine detection processes and efficiency has been determined in experimentally controlled conditions, but narcotic seizures detected by dogs in realistic anti-drug operations have not yet been critically determined in a Country with continental dimensions such as Brazil. This study aimed to evaluate the data set concerning the performance, operations, efficiency, and success rate of NDDs used by the Brazilian Customs Authority (Aduana) in the fight against drug trafficking. Narcotic seizure rates increased in luggage and packages detected by NDDs working at border crossings from 2010 to 2020, with an estimated value of over US$ 2 billion in losses to the cocaine drug trafficking business. NDD units also increased most narcotic groups seized in the same period. The number of NDDs and anti-drug operations, and Customs Border Post (CBP) influenced the rates of drugs seized. NDDs provided an increase of 3,157 kg/animal of drugs seized for every new dog introduced into the inspection systems.

2.
Microorganisms ; 12(3)2024 Mar 01.
Article in English | MEDLINE | ID: mdl-38543558

ABSTRACT

Palm oil derived from the fruits of Elaeis guineensis Jacq. has global economic importance and is largely produced in tropical regions. The palm oil production process leads to a highly polluting waste called palm oil mill effluent (POME). A strategy commonly used by producers to overcome environmental issues and to improve soil fertility is the reuse of POME as a fertilizer due to the chemical and biological characteristics of the effluent. In this research, three groups were analyzed: soil without POME application (control group) and soil samples after 4 and 9 days of POME application. An environmental DNA metabarcoding approach was used. eDNA was extracted, and the V4 region of the 16S rRNA gene was amplified and sequenced in the Illumina MiSeq platform. The abundance of Proteobacteria (48.1%) and Firmicutes (9.0%) was higher in fertilized soil, while Bacteroidetes (20.3%) and Verrucomicrobia (7.8%) were more abundant in control soil. Additionally, the effluent seemed to modify soil characteristics favoring taxa responsible for the mineralization of organic compounds and nitrogen fixation such as species of Gammaproteobacteria class. Our study highlights the influence of POME on soil biological components and contributes to the sustainable production of palm oil in the Amazon.

3.
Movimento (Porto Alegre) ; 30: e30002, 2024. tab, graf
Article in Portuguese | LILACS-Express | LILACS | ID: biblio-1558581

ABSTRACT

Resumo Este estudo analisa a quantidade e a distribuição territorial das escolinhas de futebol em Belo Horizonte. O objetivo é examinar quantos estabelecimentos desse tipo existem na cidade, onde estão localizados e quais critérios seus proprietários empregam para essa decisão. Para isso, utilizamos dados quantitativos e qualitativos, baseados, respectivamente, em informações sobre a localização desses estabelecimentos e dados censitários, de um lado, e entrevistas semiestruturadas realizadas com proprietários de escolinhas de futebol da cidade, de outro. Nossa interpretação geral é a de que escolinhas de futebol se distribuem aleatoriamente pela cidade em razão de circunstâncias que impõem uma lógica oportunista na tomada de decisão acerca da abertura de um estabelecimento comercial desse tipo.


Abstract The study analyzes the quantity and geographical distribution of "football schools" in Belo Horizonte. The objective is to examine how many of these establishments exist in the city, where they are located and what criteria their owners use to make this decision. For this, we used quantitative and qualitative data, based on information about the location of these establishments and census data, on the one hand, and semi-structured interviews with owners of soccer schools in the city, on the other. Our general interpretation is that football schools are distributed randomly throughout the city due to circumstances impose an opportunistic logic on decision-making.


Resumen Este estudio analiza la cantidad y la distribución territorial de las "escuelas de fútbol" en Belo Horizonte. El objetivo es examinar cuántos establecimientos de este tipo existen en la ciudad, dónde están ubicados y qué criterios utilizan sus propietarios para esta decisión. Para ello, se utilizaron datos cuantitativos y cualitativos, basados en información sobre la ubicación de estos establecimientos y datos censales, por un lado, y entrevistas semiestructuradas a propietarios de escuelas de fútbol de la ciudad, por otro. Nuestra interpretación general es que las escuelas de fútbol se distribuyen aleatoriamente por la ciudad debido a circunstancias que imponen una lógica de opotunismo en la toma de decisiones sobre la apertura de un establecimiento comercial de este tipo.

4.
Rev. bras. educ. méd ; 48(2): e028, 2024. tab
Article in English | LILACS-Express | LILACS | ID: biblio-1559437

ABSTRACT

Abstract Introduction: Brazilian scientific production has shown substantial growth and achieved international visibility. However, in general, the participation of women in scientific activities remains limited. Objective: This study aimed to evaluate the indicators of scientific productivity of women fellows of the Council for Scientific and Technological Development (CNPq) in the field of Medicine. Method: This cross-sectional study was conducted on 541 (211 women, 39%) researchers registered as recipients of CNPq research productivity (PQ) scholarships in Medicine according to a list provided in December 2022. Results: There was a predominance of male researchers (n=330; 61%). In both the male and female groups, most researchers were at level 2, with 62.5% women and 47.2% men (p=0.018). All 211 female PQ scholars were distributed among 37 different institutions and published 34,969 papers in scientific journals, averaging 165.7 articles per researcher. In the last five years of the study period (from 2018 to 2022), 9,679 papers were published. Over their careers, the 211 researchers supervised 5,440 undergraduate research students, 4,144 master's degree students, and 2,923 PhD candidates. There was a significant difference between the scholarship levels for the development of human resources in undergraduate research (p=0.040), master's degree (p=0.027), and PhD. (p<0.001). Conclusion: There are still less women participating in CNPq medical research than men. However, we observed a substantial participation of women in all the assessed items, including technical and scientific production and the human resources training.


Resumo Introdução: A produção científica brasileira apresentou crescimento substancial e visibilidade internacional. Contudo, em geral, a participação das mulheres em atividades científicas ainda é limitada. Objetivo: Este estudo objetivou avaliar os indicadores de produtividade científica de mulheres bolsistas do Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) na área de medicina. Método: Foi realizado estudo transversal com 541 (211 mulheres, 39%) pesquisadores cadastrados como bolsistas de produtividade em medicina do CNPq conforme lista disponibilizada em dezembro de 2022. Resultado: Houve predomínio de pesquisadores do sexo masculino (n = 330; 61%). Em ambos os grupos, masculino e feminino, a maioria dos investigadores encontra-se no nível 2, sendo 62,5% mulheres e 47,2% homens (p = 0,018). Todos os 211 pesquisadores foram distribuídos em 37 instituições diferentes e publicaram 34.969 artigos em revistas científicas, com média de 165,7 artigos por pesquisador. De 2018 a 2022, foram publicados 9.679 artigos. Ao longo de suas carreiras, os 211 pesquisadores orientaram 5.440 alunos de iniciação científica, 4.144 alunos de mestrado e 2.923 alunos de doutorado. Houve diferença significativa entre os níveis de bolsas quanto ao desenvolvimento de recursos humanos em iniciação científica (p = 0,040), mestrado (p = 0,027) e doutorado (p < 0,001). Conclusão: Ainda há menor participação de mulheres do que de homens entre os pesquisadores médicos do CNPq. Contudo, foi possível observar participação substancial das mulheres em todos os quesitos avaliados, incluindo a produção técnica e científica e a formação de recursos humanos.

5.
Front Endocrinol (Lausanne) ; 14: 1233050, 2023.
Article in English | MEDLINE | ID: mdl-37900142

ABSTRACT

Introduction: This study aimed to investigate the sociodemographic factors, dietary adherence, regular physical activity, and genomic ancestry percentage associated with good glycemic control in Brazilian patients with type 1 diabetes (T1D) using a hierarchical approach. Methods: A cross-sectional study was conducted in 152 T1D patients. Glycated hemoglobin (HbA1C) levels were measured to evaluate the glycemic control status (good, moderate, or poor). Independent factors included sex, age, self-reported skin color, educational level, family income, dietary patterns, and physical activity. The percentage of genomic ancestry (Native American, European, and African) was influenced by a panel of 46 autosomal insertion/deletion ancestry markers. Statistical analyses included receiver operating characteristic curves, and hierarchical logistic regression analysis. Results: The hierarchical analysis, patients who had high dietary adherence showed a positive association with good glycemic control (adjustedOR = 2.56, 95% CI:1.18-5.59, P = 0.016). Thus, age greater than 40 years was associated with good glycemic control compared to the children and adolescents group (adjustedOR = 4.55, 95% CI:1.14-18.1, P = 0.031). Males were associated with good glycemic control (adjustedOR = 2.00, 95% CI:1.01-4.00, P =0.047). Conclusion: The study findings suggest that consistent adherence to dietary regimens is associated with good glycemic control after adjusting for sociodemographic and genomic ancestry factors in an admixed population of T1D patients from Northeast Brazil.


Subject(s)
Diabetes Mellitus, Type 1 , Male , Adolescent , Child , Humans , Adult , Diabetes Mellitus, Type 1/epidemiology , Diabetes Mellitus, Type 1/genetics , Diabetes Mellitus, Type 1/complications , Brazil/epidemiology , Cross-Sectional Studies , Glycemic Control , Genomics , Healthy Lifestyle
6.
J Crit Care ; 76: 154295, 2023 08.
Article in English | MEDLINE | ID: mdl-37001320

ABSTRACT

PURPOSE: To assess the physiological and clinical effects of different rates of intravenous fluids for volume expansion of critically ill and perioperative patients. METHODS: We searched PubMed, EMBASE, and Cochrane Central Register of Controlled Trials for studies comparing intravenous infusion rates both in animals and studies involving healthy subjects, critically ill, and perioperative care patients of all ages. RESULTS: Seven animal studies, eleven clinical studies and three studies including healthy volunteers were identified. Slower infusion led to lower mortality in two studies, lower blood loss in one study, better or more sustained expansion of plasma volume and less edema in three studies, but slower restoration of blood pressure in one study. Three healthy volunteer studies suggested more effective plasma expansion with slower infusion, whereas one trial with postoperative patients did not show plasma volume differences between different infusion rates. One randomized trial found increased mortality with faster infusion in septic children, whereas a randomized trial found no significant differences in critically ill adults. CONCLUSIONS: In this scoping review, most studies showed that slower intravenous infusion rates result in a more efficient intravascular expansion, with a longer effect, and less edema than faster rates. Effects on clinical outcomes were inconsistent.


Subject(s)
Critical Illness , Humans , Infusions, Intravenous
7.
Oral Dis ; 2023 Jan 18.
Article in English | MEDLINE | ID: mdl-36654191

ABSTRACT

OBJECTIVE: To investigate orofacial traits and general factors related to oral health-related quality of life in acromegaly patients. MATERIALS AND METHODS: A cross-sectional study with 34 acromegaly patients was conducted. The OHIP-14 questionnaire was used to assess oral health-related quality of life scores. To assess orofacial and occlusion morphology, an oral evaluation was performed. Correlation measures, multiple linear regression and a structural equation model (SEM) were used in the statistical analysis. RESULTS: The presence of arthrosis (SC = 0.467, SE = 0.155, p = 0.003) and smoking history (SC = 0.459, SE = 0.206, p = 0.026) were associated with a negative impact on oral health-related quality of life. Mandibular protrusion was related to physical pain (ß = 2.74, p = 0.029). Anterior open bite (ß = 4.44, p = 0.004) and anterior crossbite (ß = 2.61, p = 0.026) were related to psychological disability. Diastema was related to social disability (ß = 3.42, p = 0.037) and handicap (ß = 2.74, p = 0.044). CONCLUSION: The findings suggest that smoking, arthrosis and orofacial alterations (mandibular protrusion, open bite, crossbite and diastema) have a negative impact on oral health-related quality of life in acromegaly patients.

8.
Sci Rep ; 12(1): 11060, 2022 06 30.
Article in English | MEDLINE | ID: mdl-35773385

ABSTRACT

We aimed to evaluate the Health-related quality of life (HRQoL) of Type 1 diabetes mellitus (T1D) patients in an admixed Brazilian population. This is a cross-sectional study with 152 T1D patients. HRQoL information was obtained from two self-completed questionnaires: Short Form-6 dimensions and EuroQol-5 dimensions with visual analog scale. For inference of global ancestry, the panel of 46 autosomal informational insertion/deletion ancestry markers was used. Demographic and socioeconomic data, presence of chronic complications, glycemic control level, and type of treatment were obtained. Patients with good HRQoL were: male, under 18 years old, had health insurance, less than 5 years of diagnosis, practiced physical activity, without hypoglycemia in the last 30 days, absence of retinopathy and nephropathy, a participant in educational activities, used analogous insulin, monitoring blood glucose, observed maximum adherence to treatment and came from the secondary service. Global ancestry and self-reported color/race did not influence HRQoL indexes. Our study is the first to measure HRQoL, global ancestry and recognize the impact of T1D on the lives of patients in the State of Maranhão, Brazil. The results validate the need to provide T1D patients with continuous training on self-management and self-monitoring, aiming for better results in metabolic control and, subsequently, in the prevention of acute and chronic complications, in order to generate positive impacts on the quality of life of this population. We understand that global ancestry in a highly mixed population such as ours did not influence the HRQoL of these patients.


Subject(s)
Diabetes Mellitus, Type 1 , Adolescent , Brazil/epidemiology , Cross-Sectional Studies , Humans , Male , Quality of Life , Socioeconomic Factors , Surveys and Questionnaires
9.
Curr Drug Metab ; 23(3): 233-241, 2022.
Article in English | MEDLINE | ID: mdl-35578867

ABSTRACT

BACKGROUND: The introduction of tacrolimus (TAC) to clinical practice was essential to the establishment of transplantation as a therapy for patients with chronic renal disease. However, the higher interindividual variation of TAC metabolism has been an important limiting factor for its clinical use. Although the relationship between CYP3A5 polymorphisms and TAC pharmacokinetics (PK) is well established, the effects of other genetic variants on TAC metabolism, such as POR*28, still remain uncertain. OBJECTIVE: The study aimed to evaluate the impact of POR variants on TAC PK in renal transplant patients with different CYP3A5 genotypes (expressers and non-expressers). METHODS: A total of 115 patients were included in this study. Genomic DNA was isolated from peripheral blood, and the real-time PCR technique was used to analyze the polymorphism POR rs1057868; C>T. RESULTS: During the initial post-transplant period, variant allele carriers (*1/*28 and *28/*28) showed a lower TAC dose requirement than POR wild homozygotes (*1/*1). Regarding the influence of the different polymorphisms of POR within the CYP3A5 expresser and non-expresser groups, no differences were observed in any of the PK parameters analyzed during 12 months after transplantation. CONCLUSION: In the studied population, the variant allelic POR*28 was significantly associated with lower TAC dose requirements and higher Co/D ratio in the first-month post-transplant. However, the effects of this polymorphism on the CYP3A5 enzyme activity were not observed.


Subject(s)
Cytochrome P-450 Enzyme System/genetics , Kidney Transplantation , Tacrolimus , Cytochrome P-450 CYP3A/genetics , Genotype , Humans , Immunosuppressive Agents/pharmacokinetics , Polymorphism, Single Nucleotide , Tacrolimus/pharmacokinetics
10.
Article in English | MEDLINE | ID: mdl-35457600

ABSTRACT

In the COVID-19 pandemic, there was an increase in consultations for precocious puberty. We aim to analyze differences in female puberty before and during the COVID-19 pandemic. A cross-sectional analytical study was designed at the Pediatric Endocrinology Clinic of the University Hospital of the Federal University of Maranhão in São Luis, Brazil. We included 55 girls with precocious puberty, 22 who started puberty during the pandemic and 33 who started puberty before the pandemic. Clinical, anthropometric, laboratory and imaging variables were compared between groups. Statistics were performed to determine if there was a statistical difference between the groups. Girls with puberty during the pandemic had higher Z-scores for weight (1.08 ± 1.29 versus 0.69 ± 0.83; p = 0.04), lower ovarian volume (1.88 ± 0.95 versus 3.15 ± 2.31; p = 0.01), and smaller differences between thelarche noticed by the parents and the diagnosis (6.63 ± 5.21 versus 12.15 ± 9.96; p = 0.02). The association between precocious puberty during the pandemic with higher Z-scores for weight, lower ovarian volume, and a reduction in the time between the perception of pubertal findings by parents and the diagnosis suggests the influence of the pandemic on the normal time of puberty.


Subject(s)
COVID-19 , Puberty, Precocious , COVID-19/epidemiology , Child , Cross-Sectional Studies , Female , Humans , Male , Pandemics , Puberty , Puberty, Precocious/epidemiology
11.
Endocr Pract ; 28(5): 509-514, 2022 May.
Article in English | MEDLINE | ID: mdl-35247589

ABSTRACT

OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic syndrome characterized by parathyroid, anterior pituitary, and/or duodenopancreatic neuroendocrine tumors. Studies have indicated that investigating primary hyperparathyroidism (pHPT) with subsequent genetic screening may be an essential tool for the early diagnosis of MEN1 in patients with pituitary tumors (PTs). This study aimed to investigate the presence of pHPT in patients with PTs and, subsequently, to screen for genetic mutations and related tumors in patients with MEN1 syndrome. METHODS: This study included 255 patients with PTs who were assessed for the presence of MEN1 by serum calcium and parathyroid hormone measurements. Mutation screening of the MEN1, CDKN1B, and AIP genes was performed in the index cases showing the MEN1 phenotype. RESULTS: Five patients with PTs presented a clinical condition compatible with MEN1. These patients had a younger age of onset and a more severe clinical condition. Genetic analysis identified a frameshift mutation in the MEN1 gene in one of the cases with the MEN1 phenotype, but point mutations in CDKN1B and AIP were not detected in any of these patients. CONCLUSION: Our results show that periodic screening for pHPT in patients with PTs may be useful to detect MEN1 syndrome; thus, it is recommended in those patients with both findings a genetic analysis of MEN1 gene and an additional search of related tumors. By contrast, our data suggest that CDKN1B and AIP mutations do not seem to play a relevant role in the pathogenesis of MEN1.


Subject(s)
Hyperparathyroidism, Primary , Multiple Endocrine Neoplasia Type 1 , Pituitary Neoplasms , Genetic Profile , Humans , Hyperparathyroidism, Primary/diagnosis , Hyperparathyroidism, Primary/genetics , Hyperparathyroidism, Primary/pathology , Multiple Endocrine Neoplasia Type 1/complications , Multiple Endocrine Neoplasia Type 1/genetics , Mutation , Pituitary Neoplasms/complications , Pituitary Neoplasms/genetics
13.
Front Med (Lausanne) ; 9: 846173, 2022.
Article in English | MEDLINE | ID: mdl-35308512

ABSTRACT

Collapsing glomerulopathy (CG) is a clinicopathologic entity characterized by segmentar or global collapse of the glomerulus and hypertrophy and hyperplasia of podocytes. The Columbia classification of 2004 classified CG as a histological subtype of focal segmental glomerulosclerosis (FSGS). A growing number of studies have demonstrated a high prevalence of CG in many countries, especially among populations with a higher proportion of people with African descent. The present study is a narrative review of articles extracted from PubMed, Medline, and Scielo databases from September 1, 2020 to December 31, 2021. We have focused on populational studies (specially cross-sectional and cohort articles). CG is defined as a podocytopathy with a distinct pathogenesis characterized by strong podocyte proliferative activity. The most significant risk factors for CG include APOL1 gene mutations and infections with human immunodeficiency virus and severe acute respiratory syndrome coronavirus 2. CG typically presents with more severe symptoms and greater renal damage. The prognosis is notably worse than that of other FSGS subtypes.

14.
Genes (Basel) ; 13(2)2022 02 21.
Article in English | MEDLINE | ID: mdl-35205433

ABSTRACT

Patients with type 1 diabetes (T1D) have a higher risk of developing cardiovascular disease (CVD), which is a major cause of death in this population. This study investigates early markers of CVD associated with clinical data and autosomal ancestry in T1D patients from an admixed Brazilian population. A cross-sectional study was conducted with 99 T1D patients. The mean age of the study sample was 27.6 years and the mean duration of T1D was 14.4 years. The frequencies of abnormalities of the early markers of CVD were 19.6% in the ankle-brachial index (ABI), 4.1% in the coronary artery calcium score (CACS), and 5% in the carotid Doppler. A significant percentage of agreement was observed for the comparison of the frequency of abnormalities between CACS and carotid Doppler (92.2%, p = 0.041). There was no significant association between the level of autosomal ancestry proportions and early markers of CVD. The ABI was useful in the early identification of CVD in asymptomatic young patients with T1D and with a short duration of disease. Although CACS and carotid Doppler are non-invasive tests, carotid Doppler is more cost-effective, and both have limitations in screening for CVD in young patients with a short duration of T1D. We did not find a statistically significant relationship between autosomal ancestry proportions and early CVD markers in an admixed Brazilian population.


Subject(s)
Cardiovascular Diseases , Diabetes Mellitus, Type 1 , Adult , Ankle Brachial Index , Biomarkers , Brazil/epidemiology , Cardiovascular Diseases/genetics , Cross-Sectional Studies , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 1/genetics , Humans
15.
J Surg Oncol ; 125(4): 658-663, 2022 Mar.
Article in English | MEDLINE | ID: mdl-34862611

ABSTRACT

BACKGROUND: Portal vein resection and reconstruction in locally advanced pancreatic cancer represents a potentially curative treatment in selected patients without increasing surgical mortality. However, vascular reconstruction after segmental venous resection is challenging. The parietal peritoneum has emerged as a venous substitute but few reports include its use as a tubular graft. We report a retrospective series of portal vein reconstruction using a falciform ligament tubular graft during pancreaticoduodenectomy. MATERIAL AND METHODS: Technical aspects and short-term morbidity and mortality after pancreaticoduodenectomy with falciform ligament tubular graft interposition were analyzed. RESULTS: Among 21 patients who used parietal peritoneum for venous substitution between 2015 and 2019, eight underwent pancreaticoduodenectomy with venous resection and reconstruction using interposition of falciform ligament tubular graft. The mean duration of surgery and clamping time were 350 and 27 min, respectively. No perioperative blood transfusion was required. All the grafts were patent the day after surgery. No complication related to venous obstruction was detected during the hospital stay. Two patients had postoperative pancreatic fistula. No further intervention was needed. The 90-day mortality was null. CONCLUSIONS: The use of interposition of falciform ligament tubular graft for portal venous reconstruction during pancreaticoduodenectomy seems to be a reliable, inexpensive, and safe procedure.


Subject(s)
Ligaments/transplantation , Mesenteric Veins/surgery , Pancreatic Neoplasms/surgery , Pancreaticoduodenectomy/methods , Plastic Surgery Procedures/methods , Portal Vein/surgery , Vascular Surgical Procedures/methods , Aged , Anastomosis, Surgical , Female , Follow-Up Studies , Humans , Male , Middle Aged , Pancreatic Neoplasms/pathology , Prognosis , Retrospective Studies
16.
Hist Cienc Saude Manguinhos ; 28(4): 1079-1111, 2021.
Article in Portuguese | MEDLINE | ID: mdl-34910041

ABSTRACT

The article collates and presents a wide range of data on the international circulation of doctoral students and researchers belonging to the Brazilian historiographical community funded by the Brazilian Federal Agency for the Support and Evaluation of Graduate Education, through doctoral grants with international internship and post-doctoral grants. It analyzes the annual records of scholarships awarded from 1998 to 2017, observing how they changed over time and the annual percentage of scholarship holders abroad. It compares the total number of scholarships in History and in other disciplines. Lastly, it lists the main countries and institutions where these individuals studied. It notes that this discipline follows the same path as Brazilian science abroad.


O artigo reúne e apresenta um amplo conjunto de dados sobre a circulação internacional de estudantes de doutorado e pesquisadores(as) pertencentes à comunidade historiográfica brasileira financiados(as) pela Coordenação de Aperfeiçoamento de Pessoal de Nível Superior, por meio de bolsas de doutorado sanduíche e de pós-doutorado. Analisa os registros anuais de bolsas concedidas entre 1998 e 2017 no intuito de observar sua evolução e o percentual anual de bolsistas no exterior. Compara a história com outras áreas do conhecimento e com o total de bolsas concedidas. Finalmente, apresenta os países e as principais instituições de destino desses bolsistas. Constata que essa área segue os mesmos caminhos da ciência brasileira no exterior.


Subject(s)
Fellowships and Scholarships , Physicians , Brazil , Education, Graduate , Humans , Research Personnel
17.
Article in English | MEDLINE | ID: mdl-34554906

ABSTRACT

BACKGROUND: Thyrotoxic Hypokalemic Periodic Paralysis (THPP) is a rare neuromuscular disease characterized by recurrent episodes of skeletal muscle weakness associated with hypokalemia. Alterations in protein-encoding genes that are part of ion channels seem to be related to the development of this disease. However, the pathogenic potential of some variants in these genomic regions is not yet fully understood. The aim of this study was to screen genetic alterations in regions coding for calcium (cav1.1), sodium (nav1.4), and potassium (Kir2.6) channels, evaluating its impact on the phenotype of patients with THPP. METHODS: Four patients with a diagnosis of THPP followed by the Endocrinology Service of the University Hospital of the Federal University of Maranhão (Brazil) were investigated for the presence of molecular abnormalities in CACNA1S, SCN4A, and KCNJ18 genes. RESULTS: The KCNJ18 analysis revealed at least one polymorphic variant in each patient. Considering the haplotypic classification of R39Q, R40H, A56E, and I249V variants, two cases were named Kir2.6_RRAI and the other two patients were named Kir2.6_QHEV. No patient had point mutations in the regions evaluated for CACNA1S and SCN4A genes. CONCLUSION: The identification of the Kir2.6_RRAI and Kir2.6_QHEV haplotypes reinforces the existence of two main haplotypes involving these four loci of the KCNJ18gene. On the other hand, point mutations in CACNA1S, SCN4A, and KCNJ18 genes do not seem to be the main mechanism of pathogenesis of THPP, indicating that many questions about this topic still remain unclear. So, the diagnosis of this rare disorder should still be based on clinical and biochemical aspects presented by the patient.


Subject(s)
Hypokalemic Periodic Paralysis , Potassium Channels, Inwardly Rectifying , Brazil/epidemiology , Genetic Testing , Humans , Hypokalemic Periodic Paralysis/diagnosis , Hypokalemic Periodic Paralysis/epidemiology , Hypokalemic Periodic Paralysis/genetics , Mutation , NAV1.4 Voltage-Gated Sodium Channel/genetics , Potassium Channels, Inwardly Rectifying/genetics , Tertiary Care Centers
18.
Sci Rep ; 11(1): 14157, 2021 07 08.
Article in English | MEDLINE | ID: mdl-34239025

ABSTRACT

This study aimed to investigate the relationship between genetic ancestry inferred from autosomal and Y chromosome markers and HLA genotypes in patients with Type 1 Diabetes from an admixed Brazilian population. Inference of autosomal ancestry; HLA-DRB1, -DQA1 and -DQB1 typifications; and Y chromosome analysis were performed. European autosomal ancestry was about 50%, followed by approximately 25% of African and Native American. The European Y chromosome was predominant. The HLA-DRB1*03 and DRB1*04 alleles presented risk association with T1D. When the Y chromosome was European, DRB1*03 and DRB1*04 homozygote and DRB1*03/DRB1*04 heterozygote genotypes were the most frequent. The results suggest that individuals from Maranhão have a European origin as their major component; and are patrilineal with greater frequency from the R1b haplogroup. The predominance of the HLA-DRB1*03 and DRB1*04 alleles conferring greater risk in our population and being more frequently related to the ancestry of the European Y chromosome suggests that in our population, the risk of T1D can be transmitted by European ancestors of our process miscegenation. However, the Y sample sizes of Africans and Native Americans were small, and further research should be conducted with large mixed sample sizes to clarify this possible association.


Subject(s)
Chromosomes, Human, Y/genetics , Diabetes Mellitus, Type 1/genetics , Gene Pool , Genetic Predisposition to Disease , HLA Antigens/genetics , Phylogeny , Adult , Brazil , Case-Control Studies , Female , Genetic Markers , Geography , Haplotypes/genetics , Humans , Male , Principal Component Analysis
19.
J Surg Oncol ; 124(4): 665-668, 2021 Sep.
Article in English | MEDLINE | ID: mdl-34159613

ABSTRACT

Resection of the inferior vena cava may be required in the courses of oncological surgeries for the tumors originating from or invading it. Management of the remaining defect depends on the extension of the resection. Partial or complete replacement of the inferior vena cava, with a patch or interposition graft, may be required. Standard techniques for the reconstruction with a prosthetic material or the autologous veins can be associated with the prosthetic graft infection, high cost, long-standing anticoagulation, technical difficulties, and/or need for extra incisions. The use of the autologous peritoneum represents an easy and inexpensive alternative for the partial and complete inferior vena cava reconstructions.


Subject(s)
Neoplasms/surgery , Peritoneum/transplantation , Plastic Surgery Procedures/methods , Vena Cava, Inferior/surgery , Humans , Prognosis , Transplantation, Autologous
20.
Clin Rheumatol ; 40(7): 2727-2734, 2021 Jul.
Article in English | MEDLINE | ID: mdl-33570702

ABSTRACT

OBJECTIVE: The aim of this study was to investigate the expression of salivary Toll-like receptors (TRL) 2 and 4 in patients with systemic lupus erythematosus (SLE) and chronic periodontitis (CP). METHODS: A case-control study was conducted with 77 participants (42 SLE and 35 non-SLE) stratified according to CP diagnosis criteria. Periodontal parameters consisted of clinical attachment level (CAL), probing depth (PD), the visible plaque index (VPI), and the gingival bleeding index (GBI). Salivary TRL 2 and 4 expressions were determined by quantitative real-time polymerase chain reaction (RT-PCR). Statistical analysis included Mann-Whitney U test, Kruskal-Wallis test, Spearman's correlation rank, and multiple linear regression. RESULTS: Patients with isolated SLE or CP had higher TLR 2 and TLR 4 expression in their saliva samples (P < 0.05). The group with both SLE and CP had lower TLR 2 and 4 expressions (P < 0.05). TLR 2 and TLR 4 showed significant negative correlations with PD, CAL, and GBI in SLE patients, and a significant positive correlation with periodontal parameters in non-SLE patients. CP was independently associated with reduction of TLR2 and TLR4 expression, even after adjusting for clinical data and current drug use. CONCLUSION: Reduced TRL 2 and 4 expression in saliva was associated with the presence of CP in SLE patients. Key Points • Patients affected by isolated CP or SLE had higher TLR2 and TLR4 expression. • TLR under-expression may be associated with a worse periodontal status in SLE. • Abnormalities in TLRs expression may increase the susceptibility to periodontitis.


Subject(s)
Chronic Periodontitis , Lupus Erythematosus, Systemic , Toll-Like Receptor 2/genetics , Toll-Like Receptor 4/genetics , Case-Control Studies , Humans , Saliva
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