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1.
J Clin Immunol ; 44(3): 61, 2024 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-38363452

RESUMO

Human inborn errors of immunity (IEI) comprise a group of diseases resulting from molecular variants that compromise innate and adaptive immunity. Clinical features of IEI patients are dominated by susceptibility to a spectrum of infectious diseases, as well as autoimmune, autoinflammatory, allergic, and malignant phenotypes that usually appear in childhood, which is when the diagnosis is typically made. However, some IEI patients are identified in adulthood due to symptomatic delay of the disease or other reasons that prevent the request for a molecular study. The application of next-generation sequencing (NGS) as a diagnostic technique has given rise to an ever-increasing identification of IEI-monogenic causes, thus improving the diagnostic yield and facilitating the possibility of personalized treatment. This work was a retrospective study of 173 adults with IEI suspicion that were sequenced between 2005 and 2023. Sanger, targeted gene-panel, and whole exome sequencing were used for molecular diagnosis. Disease-causing variants were identified in 44 of 173 (25.43%) patients. The clinical phenotype of these 44 patients was mostly related to infection susceptibility (63.64%). An enrichment of immune dysregulation diseases was found when cohorts with molecular diagnosis were compared to those without. Immune dysregulation disorders, group 4 from the International Union of Immunological Societies Expert Committee (IUIS), were the most prevalent among these adult patients. Immune dysregulation as a new item in the Jeffrey Model Foundation warning signs for adults significantly increases the sensitivity for the identification of patients with an IEI-producing molecular defect.


Assuntos
Doenças do Sistema Imunitário , Adulto , Humanos , Estudos Retrospectivos , Doenças do Sistema Imunitário/diagnóstico , Doenças do Sistema Imunitário/genética , Imunidade Adaptativa , Sequenciamento de Nucleotídeos em Larga Escala , Pacientes
2.
Molecules ; 27(24)2022 Dec 09.
Artigo em Inglês | MEDLINE | ID: mdl-36557871

RESUMO

Recently, natural antioxidants for the food industry have become an important focus. Cashew nut-shell liquid (CNSL) is composed of compounds that can act as natural antioxidants in food systems. The aim of this work was to evaluate the potential of CNSL and its components to act as natural antioxidants in a bulk oil system. CNSL was treated with calcium hydroxide to obtain two fractions [cardol/cardanols acid fraction (CCF) and anacardic acid fraction (AF)]. CNSL, FF and AF were analyzed by thin-layer chromatography and Fourier-transform infrared spectroscopy. The protective effects of CNSL, CCF and AF were tested in terms of the peroxide value of bulk soybean oil in accelerated assays and were compared against controls with and without synthetic antioxidants (CSA and CWA). CNLS, CCF, AF and CSA were tested at 200 mg/kg soybean oil by incubation at 30, 40, 50 and 60 °C for five days. The activation energy (Ea) for the production of peroxides was calculated by using the linearized Arrhenius equation. Thin-layer chromatography and Fourier-transform infrared spectroscopy revealed that (i) CNSL contained cardanols, anacardic acids, and cardols; (ii) CCF contained cardanols and cardols; and (iii) AF contained anacardic acids. CSA (Ea 35,355 J/mol) was the most effective antioxidant, followed by CCF (Ea 31,498 J/mol) and by CNSL (Ea 26,351 J/mol). AF exhibited pro-oxidant activity (Ea 8339 J/mol) compared with that of CWA (Ea 15,684 J/mol). Therefore, cardols and cardanols from CNSL can be used as a natural antioxidant in soybean oil.


Assuntos
Anacardium , Anacardium/química , Antioxidantes/química , Óleo de Soja/análise , Fenóis/química , Ácidos Anacárdicos/farmacologia , Ácidos Anacárdicos/química , Nozes/química
3.
Ann Vasc Surg ; 73: 122-128, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33689754

RESUMO

Carotid free-floating thrombus is an uncommon entity that usually presents with neurologic symptoms. Crescendo transient ischemic attack is an accepted indication for urgent carotid endarterectomy. COVID-19 is associated with severe thromboembolic complications. We report the case of a 61-year-old man who developed, 2 weeks after the diagnosis of COVID-19, crescendo transient ischemic attack, complicating a large intraluminal floating thrombus within the right common carotid artery. A carotid thromboendarterectomy under local anesthesia, with patch closure was immediately performed without complications. We conducted a literature review to identify cases of common carotid artery thrombus related to COVID-19. Carotid free-floating thrombus in the common carotid artery is exceptional. However, since the beginning of the COVID-19 pandemic, 15 cases have been published.


Assuntos
COVID-19/complicações , Doenças das Artérias Carótidas/etiologia , Artéria Carótida Primitiva , Trombose/etiologia , Adulto , Idoso , Doenças das Artérias Carótidas/diagnóstico por imagem , Doenças das Artérias Carótidas/cirurgia , Artéria Carótida Primitiva/diagnóstico por imagem , Angiografia por Tomografia Computadorizada , Endarterectomia das Carótidas , Feminino , Humanos , Ataque Isquêmico Transitório/etiologia , Masculino , Pessoa de Meia-Idade , Trombose/diagnóstico por imagem , Trombose/cirurgia , Ultrassonografia
4.
Ann Vasc Surg ; 57: 177-186, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30500638

RESUMO

BACKGROUND: The purpose of this study is to determinate the cost-effectiveness of carotid endarterectomy (CEA) versus transfemoral stenting (TFS) and transcervical stenting (TCS) in a short- and long-term basis in symptomatic and asymptomatic patients. METHODS: From January 2003 to December 2014, patients from the vascular department, with symptomatic or asymptomatic carotid stenosis, who were clinically and anatomically suitable for TFS, TCS, or CEA, were included. Prospective cost data for each individual procedure and complication during follow-up were obtained from the diagnosis-related group. The quality-adjusted life years (QALYs) and incremental cost-effectiveness ratios were estimated. Analysis of data was by treatment received. All statistical tests were two-sided. The significance level was 5%. RESULTS: A total of 349 patients were enrolled: 61 for CEA (17.5%), 159 for TFS (45.5%), and 129 for TCS (37%). A total of 220 (63%) patients were symptomatic and 129 (37%) were asymptomatic. The median procedural cost and overall cost were lower on CEA (5499€ and 5595€, respectively). However, QALYs, for symptomatic patients, were better on TCS (7.3), whereas for asymptomatic patients, QALYs were better on CEA (9.6). Cost-effectiveness for symptomatic patients was better with TCS (803€/QALY), and for asymptomatic patients, it was with CEA (654€/QALY). CONCLUSIONS: TFS and TCS were associated with clinical outcomes equivalent to CEA on both symptomatic and asymptomatic patients. Cost-effectiveness ratios for symptomatic patients were better on TCS, whereas the CEA showed the best results in asymptomatic patients.


Assuntos
Estenose das Carótidas/economia , Estenose das Carótidas/cirurgia , Endarterectomia das Carótidas/instrumentação , Procedimentos Endovasculares/economia , Custos Hospitalares , Avaliação de Processos e Resultados em Cuidados de Saúde/economia , Idoso , Idoso de 80 Anos ou mais , Doenças Assintomáticas , Estenose das Carótidas/complicações , Análise Custo-Benefício , Endarterectomia das Carótidas/efeitos adversos , Procedimentos Endovasculares/efeitos adversos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Econômicos , Estudos Prospectivos , Qualidade de Vida , Anos de Vida Ajustados por Qualidade de Vida , Espanha , Stents/economia , Fatores de Tempo , Resultado do Tratamento
5.
Brain ; 138(Pt 11): 3206-20, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26377633

RESUMO

See Aubourg (doi:10.1093/awv271) for a scientific commentary on this article.X-linked adrenoleukodystrophy is caused by mutations in the ABCD1 gene leading to accumulation of very long chain fatty acids. Its most severe neurological manifestation is cerebral adrenoleukodystrophy. Here we demonstrate that progressive inflammatory demyelination in cerebral adrenoleukodystrophy coincides with blood-brain barrier dysfunction, increased MMP9 expression, and changes in endothelial tight junction proteins as well as adhesion molecules. ABCD1, but not its closest homologue ABCD2, is highly expressed in human brain microvascular endothelial cells, far exceeding its expression in the systemic vasculature. Silencing of ABCD1 in human brain microvascular endothelial cells causes accumulation of very long chain fatty acids, but much later than the immediate upregulation of adhesion molecules and decrease in tight junction proteins. This results in greater adhesion and transmigration of monocytes across the endothelium. PCR-array screening of human brain microvascular endothelial cells after ABCD1 silencing revealed downregulation of both mRNA and protein levels of the transcription factor c-MYC (encoded by MYC). Interestingly, MYC silencing mimicked the effects of ABCD1 silencing on CLDN5 and ICAM1 without decreasing the levels of ABCD1 protein itself. Together, these data demonstrate that ABCD1 deficiency induces significant alterations in brain endothelium via c-MYC and may thereby contribute to the increased trafficking of leucocytes across the blood-brain barrier as seen in cerebral adrenouleukodystrophy.


Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Adrenoleucodistrofia/genética , Barreira Hematoencefálica/metabolismo , Encéfalo/irrigação sanguínea , Doenças Desmielinizantes/metabolismo , Endotélio Vascular/metabolismo , Microvasos/metabolismo , RNA Mensageiro/metabolismo , Membro 1 da Subfamília D de Transportadores de Cassetes de Ligação de ATP , Adolescente , Adrenoleucodistrofia/metabolismo , Adrenoleucodistrofia/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Encéfalo/metabolismo , Encéfalo/patologia , Proteínas de Ligação ao Cálcio , Estudos de Casos e Controles , Células Cultivadas , Criança , Claudina-5/genética , Claudina-5/metabolismo , Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/metabolismo , Doenças Desmielinizantes/patologia , Células Endoteliais/metabolismo , Células Endoteliais/patologia , Endotélio Vascular/patologia , Ácidos Graxos/metabolismo , Feminino , Técnicas de Silenciamento de Genes , Heterozigoto , Homozigoto , Células Endoteliais da Veia Umbilical Humana , Humanos , Molécula 1 de Adesão Intercelular/genética , Molécula 1 de Adesão Intercelular/metabolismo , Masculino , Proteínas dos Microfilamentos , Microscopia Confocal , Microvasos/citologia , Microvasos/patologia , Pessoa de Meia-Idade , Esclerose Múltipla Recidivante-Remitente/metabolismo , Esclerose Múltipla Recidivante-Remitente/patologia , Molécula-1 de Adesão Celular Endotelial a Plaquetas/genética , Molécula-1 de Adesão Celular Endotelial a Plaquetas/metabolismo , Proteínas Proto-Oncogênicas c-myc/genética , Proteínas Proto-Oncogênicas c-myc/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Regulação para Cima , Molécula 1 de Adesão de Célula Vascular/genética , Molécula 1 de Adesão de Célula Vascular/metabolismo , Adulto Jovem , Proteína da Zônula de Oclusão-1/genética , Proteína da Zônula de Oclusão-1/metabolismo
6.
Enferm Clin (Engl Ed) ; 34(3): 187-193, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38823580

RESUMO

OBJECTIVE: To evaluate the efficacy of an educational intervention (escape room) in the acquisition and retention of knowledge in relation to the Infarction Code, and to compare the knowledge of other teaching methodologies related to the Infarction Code. METHODS: A pre-post study was designed without a control group. After one month of the master class on the Infarction Code given to master's degree (doctors and nurses), an educational intervention was carried out consisting of an Escape Room on the same content, with a questionnaire that collected various sociodemographic data, and a knowledge test on the Infarction Code, which was repeated immediately after the activity and at the end of 2 months after the activity, and a test of knowledge on the Infarction Code. immediately after the activity and 2 months after the master class. Likewise, after the activity, a gamified experience evaluation questionnaire (GAMEX) was completed. RESULTS: Thirty-two students received the educational intervention (12 physicians and 20 nurses), and differences were observed between medical and nursing professionals in terms of initial knowledge of simulation and gamification. After the activity, and based on the initial knowledge test, the score increased by 3.49 points, an increase that was also reflected in the test taken two months after the master class, where an increase of 2.08 points was maintained. The participants rated the experience positively, with no significant overall differences between the two professional groups. CONCLUSIONS: The nurses had greater knowledge and contact with clinical simulation, virtual reality and gamification. The escape room showed to be a valid method for the assimilation and retention of knowledge in master's degree students. Medical professionals experienced a greater degree of immersion in the activity.


Assuntos
Infarto , Humanos , Masculino , Feminino , Adulto , Educação em Enfermagem/métodos
7.
HLA ; 103(6): e15572, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38923242

RESUMO

This study investigates kidney transplant outcomes in highly sensitised patients after implementing a delisting strategy aimed at enabling transplantation despite preformed donor-specific antibodies (preDSA), with the goal of reducing acute antibody-mediated rejection (aAMR) risk. Fifty-three sensitised recipients underwent kidney transplant after delisting prohibited HLA antigens, focusing initially in low MFI antibodies (<5000), except for anti-HLA-DQ. If insufficient, higher MFI antibodies were permitted, especially for those without an immunogenic eplet pattern assigned. Delisting of Complement-fixing antibodies (C1q+) was consistently avoided. Comparison cohorts included 53 sensitised recipients without DSA (SwoDSA) and 53 non-sensitised (NS). The average waiting time prior to delisting was 4.4 ± 1.8 years, with a reduction in cPRA from 99.7 ± 0.5 to 98.1 ± 0.7, followed by transplantation within 7.2 ± 8.0 months (analysed in 34 patients). Rejection rates were similar among preDSA, SwoDSA, and NS groups (16%, 8%, and 11%, respectively; p = 0.46). However, aAMR was higher in the preDSA group (12%, 4%, and 2%, respectively; p = 0.073), only presented in recipients with DSA of MFI >5000. The highest MFI DSA were against HLA-DP (Median: 10796 MFI), with 50% of preDSA aAMR cases due to anti-DP antibodies (n = 3). Graft survival rates at 1 and 5 years in preDSA group were 94%, and 67%, comparable to SwoDSA (94%, and 70%; p = 0.69), being significantly higher in the NS group (p = 0.002). The five-year recipient survival rate was 89%, comparable to SwoDSA and NS groups (p = 0.79). A delisting strategy enables safe kidney transplant in highly sensitised patients with preDSA, with a slight increase in aAMR and comparable graft and patient survivals to non-DSA cohorts.


Assuntos
Rejeição de Enxerto , Sobrevivência de Enxerto , Antígenos HLA , Isoanticorpos , Transplante de Rim , Doadores de Tecidos , Humanos , Rejeição de Enxerto/imunologia , Masculino , Antígenos HLA/imunologia , Pessoa de Meia-Idade , Feminino , Isoanticorpos/sangue , Isoanticorpos/imunologia , Adulto , Teste de Histocompatibilidade/métodos , Medicina de Precisão/métodos , Idoso
8.
Nefrologia (Engl Ed) ; 43(6): 757-764, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36681519

RESUMO

BACKGROUND: The impact of immunosuppression in solid organ transplant recipients with SARS-CoV-2 infection is unknown. The knowledge about the behavior of different immunosuppression schemes in clinical outcomes is scarce. This study aimed to determine the risk of death in kidney transplant recipients with COVID-19 under two different schemes of immunosuppression. METHODS: We describe our experience in kidney transplant recipients with SARS-CoV-2 infection in seven transplant centers during the first year of the pandemic before starting the vaccination programs in the city of Bogotá. Demographic characteristics, clinical presentation, immunosuppression schemes at presentation, and global treatment strategies were compared between recovered and dead patients; survival analysis was carried out between calcineurin inhibitors based regimen and free calcineurin inhibitors regimen. RESULTS: Among 165 confirmed cases, 28 died (17%); the risk factors for mortality identified in univariate analysis were age older than 60 years (p=.003) diabetes (p=.001), immunosuppression based on calcineurin inhibitors (CNI) (p=.025) and patients receiving steroids (p=.041). In multivariable analysis, hypoxemia (p=.000) and calcineurin inhibitors regimen (p=.002) were predictors of death. Survival analysis showed increased mortality risk in patients receiving CNI based immunosuppression regimen vs. CNI free regimens mortality rates were, respectively, 21.7% and 8.5% (p=.036). CONCLUSIONS: Our results suggest that the calcineurin inhibitors probably do not provide greater protection compared to calcineurin inhibitor free schemes being necessary to carry out analyzes that allow us to evaluate the outcomes with different immunosuppression schemes in solid organ transplant recipients with SARS-CoV-2 infection.


Assuntos
COVID-19 , Transplante de Rim , Humanos , Pessoa de Meia-Idade , Imunossupressores/uso terapêutico , Inibidores de Calcineurina/uso terapêutico , Colômbia/epidemiologia , Rejeição de Enxerto , SARS-CoV-2 , Terapia de Imunossupressão/métodos
9.
Neural Comput ; 24(10): 2751-88, 2012 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-22845821

RESUMO

Mechanisms of human color vision are characterized by two phenomenological aspects: the system is nonlinear and adaptive to changing environments. Conventional attempts to derive these features from statistics use separate arguments for each aspect. The few statistical explanations that do consider both phenomena simultaneously follow parametric formulations based on empirical models. Therefore, it may be argued that the behavior does not come directly from the color statistics but from the convenient functional form adopted. In addition, many times the whole statistical analysis is based on simplified databases that disregard relevant physical effects in the input signal, as, for instance, by assuming flat Lambertian surfaces. In this work, we address the simultaneous statistical explanation of the nonlinear behavior of achromatic and chromatic mechanisms in a fixed adaptation state and the change of such behavior (i.e., adaptation) under the change of observation conditions. Both phenomena emerge directly from the samples through a single data-driven method: the sequential principal curves analysis (SPCA) with local metric. SPCA is a new manifold learning technique to derive a set of sensors adapted to the manifold using different optimality criteria. Here sequential refers to the fact that sensors (curvilinear dimensions) are designed one after the other, and not to the particular (eventually iterative) method to draw a single principal curve. Moreover, in order to reproduce the empirical adaptation reported under D65 and A illuminations, a new database of colorimetrically calibrated images of natural objects under these illuminants was gathered, thus overcoming the limitations of available databases. The results obtained by applying SPCA show that the psychophysical behavior on color discrimination thresholds, discount of the illuminant, and corresponding pairs in asymmetric color matching emerge directly from realistic data regularities, assuming no a priori functional form. These results provide stronger evidence for the hypothesis of a statistically driven organization of color sensors. Moreover, the obtained results suggest that the nonuniform resolution of color sensors at this low abstraction level may be guided by an error-minimization strategy rather than by an information-maximization goal.


Assuntos
Adaptação Fisiológica , Percepção de Cores/fisiologia , Visão de Cores/fisiologia , Modelos Biológicos , Dinâmica não Linear , Simulação por Computador , Humanos , Aprendizagem , Estimulação Luminosa , Análise de Componente Principal , Psicofísica
10.
J Vasc Surg Venous Lymphat Disord ; 10(4): 846-854.e2, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-34781007

RESUMO

BACKGROUND: Disease of the venous system is an underappreciated public health problem. Minimally invasive treatments such as radiofrequency ablation (RFA) or cyanoacrylate adhesive ablation (CAA) have almost entirely replaced surgical stripping (SS) of the great and small saphenous veins. The purpose of the present study was to compare the outcomes at 3 years after SS, RFA, and CAA by assessing the incidence of complications and reinterventions and performing a cost-effectiveness analysis. METHODS: From February 2016 to February 2019, all consecutive patients with symptomatic varicose veins treated at vascular department of two hospitals using SS, RFA, or CAA were included in the present study. The clinical outcomes were measured by quality-adjusted life years (QALYs), complications, and reintervention. A comparison with conservative treatment was also performed. A detailed resource use was recorded for each procedure. All costs were normalized to May 2020 U.S. dollars and euros. Analysis of the data was by the treatment received. All statistical tests were two-sided, and the significance level was set at 5%. Two perspectives of the analysis were considered: the social perspective and that of the Spanish Public Health System. The study period was 3 years. No discount rate was applied. RESULTS: A total of 233 patients were enrolled in the present study: SS, n = 90 (38.6%); RFA, 93 (39.9%); and CAA, n = 50 (21.5%). The number of complications was 11 (12.2%), 3 (3.3%), and 3 (6%) in the SS, RFA, and CAA groups, respectively (P = .06). No patient had required reintervention. The median loss of workdays for the SS, RFA, and CAA group was 15 days (interquartile range [IQR], 10-30 days), 0 days (IQR, 0-6 days), and 0 days (IQR, 0-1 days), respectively (P < .001). The median level of satisfaction for the SS, RFA, and CAA group was 9 (IQR, 8-10), 10 (IQR, 9-10), and 10 (IQR, 9-10), respectively (P < .001). The QALYs was 2.6 years for all three procedures. The median overall cost was €852 (US$926) for SS, €1002 (US$1089) for RFA, and €1228.3 (US$1335) for CAA. The total cost per QALY was €323/QALY (US$351/QALY) for SS, €380/QALY (US$413/QALY) for RFA, and €467/QALY (US$508/QALY) for CAA. The indirect costs were measured by the cost of the workdays lost for each patient and were €1527 (US$1660; IQR, €1018-3054); €0 (IQR, €0-611) for RFA, and €0 (IQR, €0-102) for CAA (P < .001). CONCLUSIONS: All three techniques were cost-effective (procedures with an incremental cost-effectiveness ratio <€30,000/QALY can be recommended). From the Spanish Public Health System perspective, when considering only the health care costs, the most cost-effective technique was SS. From the social perspective, including the opportunity costs of medical leave, CAA was the most cost-effective technique, saving €1600 per patient, a cost that more than compensated for the savings realized from using SS in direct health care costs.


Assuntos
Ablação por Cateter , Varizes , Ablação por Cateter/efeitos adversos , Ablação por Cateter/métodos , Análise Custo-Benefício , Cianoacrilatos/efeitos adversos , Humanos , Veia Safena/diagnóstico por imagem , Veia Safena/cirurgia , Resultado do Tratamento , Varizes/diagnóstico por imagem , Varizes/cirurgia
11.
Case Rep Rheumatol ; 2021: 5518541, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34306790

RESUMO

The diagnosis of giant cell arteritis (GCA) when presenting with atypical features such as stroke is very challenging. Only 0.17% of first-ever strokes are caused by GCA, a life-threatening condition when left untreated. Very few cases have been reported on giant cell arteritis leading to acute stroke due to vertebral artery dissection. We present a case of a 76-year-old female with no medical history who presented with sudden onset right visual loss and left hemiparesis. She had been initially treated for acute stroke and upon further workup was found to have left vertebral artery dissection. She had erythrocyte sedimentation rate (ESR) of 71 mm/h, and bilateral temporal artery biopsy was consistent with giant cell arteritis. Patient received high doses of methylprednisolone which resolved her hemiparesis, but her vision loss did not improve. Stroke in the presence of significant involvement of vertebral arteries should raise suspicion of GCA especially if classic symptoms preceded stroke event. High clinical suspicion is required to prevent delay in diagnosis and treatment.

12.
Artigo em Inglês | MEDLINE | ID: mdl-34501878

RESUMO

Human breast milk is the most complete foodstuff for infants but can also be a potential source of exposure to toxic chemicals. The aim of this study was to assess the levels of metal pollution in the breast milk of women living in agricultural and industrial/mining areas of the Region of Murcia (Spain) that are well known for their cases of environmental pollution. Human milk samples were collected from 50 mothers and inorganic contaminants were analyzed using inductively coupled plasma mass spectrometry (ICP-MS). The mean or maximum concentrations of the different inorganic elements analyzed in breast milk, with the exception of manganese, exceeded the maximum limits established by the WHO and could constitute a high risk for pregnant mothers and their children. The breast milk of women living in the industrial/mining zone presented the highest levels of aluminum, zinc, arsenic, lead, mercury and nickel. On the contrary, the highest concentrations of manganese, chromium and iron were determined in the milk of women living in the agricultural zone. These results suggested and confirmed different profiles of environmental contamination of these areas.


Assuntos
Metais Pesados , Oligoelementos , Criança , Feminino , Humanos , Lactente , Metais Pesados/análise , Leite Humano/química , Mineração , Gravidez , Espanha , Oligoelementos/análise
13.
Ther Adv Infect Dis ; 8: 20499361211030068, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34290865

RESUMO

BACKGROUND: Identifying risk factors for Triatominae infestation is essential for the development of vector control interventions. METHODS: To determine the intra- and peridomiciliary risk factors associated with triatomine infestation, a cross-sectional analytical study was carried out with random cluster sampling in two stages, which included the identification of risk factors by survey and direct observation, as well as the search and capture of triatomines. The detection of trypanosomes in triatomines was carried out by observing the rectal content and then by conventional polymerase chain reaction (PCR). RESULTS: In 21 of the 207 houses inspected, 13 specimens of R. colombiensis and 19 specimens of P. geniculatus were found. Entomological indices included: dispersion 36%, infestation 10%, infection 65%, colonization 4.7%, density 15%, and concentration 152%. An association was found between the presence of Triatominae and the existence of branches and fissures in the floors, as well as with the presence of accumulated objects and with knowledge about Chagas disease. The risk of having triatomines in urban homes is 5.7 times higher than the risk in rural areas [confidence interval (CI) 0.508-67.567]; 6.6 times in houses with cracked soil (CI 0.555-81.994), 6 times in houses located near caneys (CI 0.820-44.781), and 6.16 times with accumulated objects (CI 1.542-39.238). CONCLUSION: Chagas disease is a complex problem that requires control based on the vector's elimination or surveillance, which implies identifying species and their distribution, generating alerts, knowledge, and awareness in the population. It is necessary to intensify surveillance activities for the event, especially in changing aspects of Chagas diseases' transmission dynamics, such as urbanization and the type of housing associated with the vector's presence.

14.
J Child Neurol ; 36(2): 93-98, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-32928027

RESUMO

OBJECTIVE: To describe a founder mutation effect and the clinical phenotype of homozygous FRRS1L c.737_739delGAG (p.Gly246del) variant in 15 children of Puerto Rican (Boricua) ancestry presenting with early infantile epileptic encephalopathy (EIEE-37) with prominent movement disorder. BACKGROUND: EIEE-37 is caused by biallelic loss of function variants in the FRRS1L gene, which is critical for AMPA-receptor function, resulting in intractable epilepsy and dyskinesia. METHODS: A retrospective, multicenter chart review of patients sharing the same homozygous FRRS1L (p.Gly246del) pathogenic variant identified by clinical genetic testing. Clinical information was collected regarding neurodevelopmental outcomes, neuroimaging, electrographic features and clinical response to antiseizure medications. RESULTS: Fifteen patients from 12 different families of Puerto Rican ancestry were homozygous for the FRRS1L (p.Gly246del) pathogenic variant, with ages ranging from 1 to 25 years. The onset of seizures was from 6 to 24 months. All had hypotonia, severe global developmental delay, and most had hyperkinetic involuntary movements. Developmental regression during the first year of life was common (86%). Electroencephalogram showed hypsarrhythmia in 66% (10/15), with many older children evolving into Lennox-Gastaut syndrome. Six patients demonstrated progressive volume loss and/or cerebellar atrophy on brain magnetic resonance imaging (MRI). CONCLUSIONS: We describe the largest cohort to date of patients with epileptic encephalopathy. We estimate that 0.76% of unaffected individuals of Puerto Rican ancestry carry this pathogenic variant due to a founder effect. Children homozygous for the FRRS1L (p.Gly246del) Boricua variant exhibit a very homogenous phenotype of early developmental regression and epilepsy, starting with infantile spasms and evolving into Lennox-Gastaut syndrome with hyperkinetic movement disorder.


Assuntos
Hispânico ou Latino/genética , Síndrome de Lennox-Gastaut/genética , Proteínas de Membrana/genética , Mutação/genética , Proteínas do Tecido Nervoso/genética , Espasmos Infantis/genética , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Eletroencefalografia , Feminino , Hispânico ou Latino/estatística & dados numéricos , Humanos , Lactente , Masculino , Porto Rico , Estudos Retrospectivos , Espasmos Infantis/fisiopatologia , Adulto Jovem
15.
Cir Cir ; 89(5): 618-623, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34665177

RESUMO

OBJECTIVE: We sought to assess the degree of antibiotic prophylaxis adequacy to our surgical antibiotic prophylaxis protocol among patients who underwent peripheral vascular bypass surgery. MATERIALS AND METHODS: Prospective cohort study. Adequacy to protocol was studied by comparing the different aspects of prophylaxis received by patients to those stipulated in the protocol in force at our hospital. Incidence of surgical wound infection was calculated and the effect of prophylaxis inadequacy on the incidence of surgical wound infection was estimated using the relative risk. RESULTS: The study covered 266 patients. Incidence of surgical site infection (SSI) after the follow-up period was 5.3% (95% Confidence interval [CI]: 3.0-9.4). Overall adequacy to the protocol of antibiotic prophylaxis was 91.0% (95% CI: 87.6-94.4). The most frequent cause of inadequacy to the protocol was time of initiation of antibiotic prophylaxis (94.1%). No relationship was found between SSI and antibiotic prophylaxis inadequacy (relative risk: 2.4; 95% CI: 0.49-12.5; p > 0.05). CONCLUSIONS: Global adequacy to protocol of antibiotic prophylaxis was high. The most frequent cause of inadequacy to the protocol was time of initiation of antibiotic prophylaxis.


OBJETIVO: Buscamos evaluar el grado de adecuación de la profilaxis antibiótica a nuestro protocolo de profilaxis antibiótica quirúrgica entre los pacientes sometidos a cirugía de bypass vascular periférico. MATERIAL Y MÉTODOS: Estudio de cohortes prospectivo. La adecuación al protocolo se estudió comparando los diferentes aspectos de la profilaxis recibida por los pacientes con los estipulados en el protocolo vigente en nuestro hospital. Se calculó la incidencia de infección de herida quirúrgica y se estimó el efecto de la inadecuación de la profilaxis sobre la incidencia de infección de herida quirúrgica mediante el riesgo relativo. RESULTADOS: El estudio abarcó 266 pacientes. La incidencia de infección del sitio quirúrgico (ISQ) tras el periodo de seguimiento fue del 5,3% (intervalo de confianza [IC] del 95%: 3,0-9,4). La adecuación global al protocolo de profilaxis antibiótica fue del 91,0% (IC 95%: 87,6-94,4). La causa más frecuente de inadecuación al protocolo fue el momento de inicio de la profilaxis antibiótica (94,1%). No se encontró relación entre ISQ e inadecuación de la profilaxis antibiótica (riesgo relativo: 2,4; IC 95%: 0,49-12,5; p > 0,05). CONCLUSIONES: La adecuación global al protocolo de la profilaxis antibiótica fue alta. La causa más frecuente de inadecuación al protocolo fue el momento de inicio de la profilaxis antibiótica.


Assuntos
Antibioticoprofilaxia , Infecção da Ferida Cirúrgica , Antibacterianos/uso terapêutico , Humanos , Incidência , Estudos Prospectivos , Infecção da Ferida Cirúrgica/epidemiologia , Infecção da Ferida Cirúrgica/prevenção & controle
16.
Insights Imaging ; 9(4): 559-569, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29949035

RESUMO

The glossopharyngeal nerve (GPN) is a rarely considered cranial nerve in imaging interpretation, mainly because clinical signs may remain unnoticed, but also due to its complex anatomy and inconspicuousness in conventional cross-sectional imaging. In this pictorial review, we aim to conduct a comprehensive review of the GPN anatomy from its origin in the central nervous system to peripheral target organs. Because the nerve cannot be visualised with conventional imaging examinations for most of its course, we will focus on the most relevant anatomical references along the entire GPN pathway, which will be divided into the brain stem, cisternal, cranial base (to which we will add the parasympathetic pathway leaving the main trunk of the GPN at the cranial base) and cervical segments. For that purpose, we will take advantage of cadaveric slices and dissections, our own developed drawings and schemes, and computed tomography (CT) and magnetic resonance imaging (MRI) cross-sectional images from our hospital's radiological information system and picture and archiving communication system. TEACHING POINTS: • The glossopharyngeal nerve is one of the most hidden cranial nerves. • It conveys sensory, visceral, taste, parasympathetic and motor information. • Radiologists' knowledge must go beyond the limitations of conventional imaging techniques. • The nerve's pathway involves the brain stem, cisternal, skull base and cervical segments. • Systematising anatomical references will help with nerve pathway tracking.

17.
Vet Parasitol Reg Stud Reports ; 14: 212-216, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-31014732

RESUMO

The seropositivity and risk factors for Trypanosoma cruzi infection in dogs from a municipality of Cundinamarca, a central state of Colombia were studied. A total of 356 client-owned dogs from urban, peri-urban and rural areas of La Mesa municipality, (Cundinamarca, Colombia) were randomly selected. Blood samples were collected by venipuncture. Anti-T. cruzi antibodies were determined using the enzyme-linked immunosorbent assay (ELISA) method. Reactive ELISA sera were processed by indirect immunofluorescence to confirm the presence of anti-T. cruzi antibodies. Chi-square tests were conducted for statistical analysis. Serologic tests for T. cruzi infection showed a prevalence of 29.49% (105/356), the rural area show a highest T. cruzi infection pattern in comparison with the other zone locations. Two triatomine species were found through the study: Panstrongylus geniculatus (53.4%) and Rhodnius colombiensis (46.6%). The prevalence of positive vectors for parasite was of 52.1% (38/73). Additionally, a very close relation between triatomine bugs and dogs in the rural zone (1:3.1) was observed. These results are the first report of natural infection by T. cruzi in domestic dogs in La Mesa municipality. In conclusion, the presence of anti-T. cruzi antibodies in dogs in this area suggest vector transmission. There is a need for active surveillance programs throughout the La Mesa municipality and vector control strategies should also be implemented.


Assuntos
Anticorpos Antiprotozoários/sangue , Doença de Chagas/veterinária , Doenças do Cão/epidemiologia , Cães/parasitologia , Doenças Endêmicas/veterinária , Insetos Vetores/parasitologia , Animais , Doença de Chagas/epidemiologia , Colômbia/epidemiologia , Estudos Transversais , Reservatórios de Doenças/parasitologia , Doenças do Cão/parasitologia , Ensaio de Imunoadsorção Enzimática , Feminino , Técnica Indireta de Fluorescência para Anticorpo , Masculino , Animais de Estimação/parasitologia , Prevalência , Fatores de Risco , Trypanosoma cruzi
18.
Artigo em Inglês | MEDLINE | ID: mdl-28402181

RESUMO

It is important to explore new sources of natural additives because the demand for these compounds by consumers is increasing. These products also provide health benefits and help in food preservation. An unexplored source of nutrients and antioxidant compounds is rosehip, the fleshy fruit of roses. This work compares the antioxidant compound (vitamin C, neutral phenols and acidic phenols) content of four Rosa species rosehips: R. pouzinii, R. corymbifera, R. glauca and R. canina from different geographical zones. Results show quantitative variability in ascorbic acids and neutral phenols content, and quantitative and qualitative differences in acidic phenol content, depending on species. Vitamin C concentration was highly variable depending on species, R. canina being the one with the highest concentration and R. pouzinii the one with the lowest content. Variability was found in total neutral polyphenols concentration and a correlation between freshness of the rosehips and concentration of neutral polyphenols was also found. Significant differences were found in the acidic phenols content among the studied species. Generally antioxidant activity was higher in the vitamin C fraction.


Assuntos
Antioxidantes/isolamento & purificação , Indústria Alimentícia , Rosa/química
19.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1536003

RESUMO

Contexto: la enfermedad de Fabry se comporta como una enfermedad crónica con compromiso multisistémico y alto costo en salud. Objetivo: generar recomendaciones basadas en la evidencia para el diagnóstico, el tratamiento y el seguimiento de la enfermedad de Fabry con compromiso renal mediante un consenso de expertos. Metodología: a partir de la búsqueda de evidencia en Pubmed, Embase y Google Scholar entre 2010 y agosto 2020, se formulan recomendaciones sobre la definición, el diagnóstico y el tratamiento de la enfermedad de Fabry en población adulta, las cuales se consultan a un panel de expertos a través de la metodología de consenso Delphi modificado. La calidad de los documentos se evaluó por equipo metodológico aplicando herramientas en función del tipo de documento incluido. Resultados: se formularon 53 recomendaciones sobre la definición, el diagnóstico y el tratamiento. Un panel de cinco expertos clínicos nacionales e internacionales externos al grupo desarrollador participaron en la consulta preconsenso y 50 recomendaciones fueron acordadas para su inclusión, para tres de ellas se requirió una sesión formal de consenso que se dio en una ronda, incorporando tres nuevas recomendaciones. Conclusiones: las recomendaciones basadas en evidencia y experticia clínica permitirán orientar de manera estandarizada a nivel nacional y regional, el diagnóstico y el tratamiento de pacientes con sospecha o enfermedad de Fabry con compromiso renal.


Background: Fabry disease behaves like a chronic condition, with multisystem involvement and high health care costs. Objective: To generate evidence-based recommendations for the diagnosis, treatment and follow-up of the Anderson-Fabry disease with renal commitment, through an expert consensus. Methodology: Based on the search of evidence in PubMed, Embase and Google Scholar between 2010 and August, 2020, recommendations on the definition, diagnosis and treatment of Fabry Disease in adult population were formulated after consulting with an expert panel through the modified Delphi consensus methodology. The quality of the documents was assessed by methodological team applying tools according to the type of document included. Results: 53 recommendations for the definition, diagnosis and treatment were formulated. A panel of five national and international clinical experts external to the developer group participated in the pre-consensus consultation and 50 recommendations were agreed upon for their inclusion. For 3 recommendations, a formal consensus session which took place in one round was required, and 3 new recommendations were incorporated. Conclusions: The recommendations based on evidence and clinical expertise will allow us to guide the diagnosis and treatment of patients with Fabry disease with renal involvement or suspicion thereof in a standardized manner at national and regional levels.

20.
Rev. medica electron ; 44(2)abr. 2022.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1409725

RESUMO

RESUMEN Profundizar en la historia es necesario para reforzar los valores identitarios que nos distinguen. Se describen los aspectos más relevantes de la Federación Estudiantil Universitaria en la Universidad de Ciencias Médicas de Matanzas, desde 1989 hasta principios de 2021. Los apuntes recopilados evocan la labor de sus líderes y otros estudiantes de diferentes generaciones, quienes se destacaron en actividades políticas, docentes, científicas, culturales, deportivo-recreativas y de extensión universitaria.


ABSTRACT To delve in history is necessary to reinforce the identity values identifying people. The most relevant aspects of the University Students Federation in the Matanzas University of Medical Sciences, from 1989 to early 2021 are described. The collected notes evoke the work of the leaders and other students of different generations who excelled in political, teaching, scientific, cultural, sport-recreational, and university extension activities.

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