RESUMO
Snakebite envenomings most frequently reported in Colombia are caused by snakes of the genera Bothrops, Bothriechis, Bothrocophias, and Porthidium. Their venoms induce local and systemic pathophysiological effects, sometimes leading to permanent sequelae such as reduced mobility of the limbs, amputations, besides the risk of death. The genus Bothrocophias includes nine species, among which B. campbelli has a distribution restricted to the department of Nariño in Colombia. In this work we determined the toxinological profile its venom, by performing assays for the lethal, hemorrhagic, edematogenic, and myotoxic activities in mouse models, as well as for in vitro coagulant activity on human plasma. The lethal toxicity of the venom was 142.7 µg venom/mouse (111.4-179.8 µg/mouse; 6.6-10.6 µg/g body weight) by intraperitoneal route. Its hemorrhagic activity (minimum hemorrhagic dose: 12.7 ± 2.3 µg) is generally weaker compared to other South American vipers, but edematogenic (minimum edematogenic dose 1.0 ± 0.3 µg), and myotoxic (minimum myotoxic dose 3.9 ± 2.5 µg) activities are very potent. Histopathological examination of the injected mouse gastrocnemius muscle showed prominent disorganization of the myofibrils, myonecrosis, and an intense inflammatory leukocyte infiltrate. In vitro, the minimal coagulant dose was 12.3 ± 0.5 µg. Overall, this toxinological profile would predict that the clinical picture of envenomings by B. campbelli might be characterized by moderate disturbances in the coagulation cascade, mild local hemorrhage, and, conversely, severe myonecrosis and edema, which could potentially lead to compartment syndrome and gangrene.
Assuntos
Bothrops , Venenos de Crotalídeos , Humanos , Animais , Camundongos , Colômbia , Venenos de Crotalídeos/toxicidade , Hemorragia/induzido quimicamente , Serpentes , Antivenenos/efeitos adversosRESUMO
Despite advances in chemotherapeutic drugs used against cervical cancer, available chemotherapy treatments adversely affect the patient's quality of life. For this reason, new molecules from natural sources with antitumor potential and few side effects are required. In previous research, Pllans-II, a phospholipase A2 type-Asp49 from Porthidium lansbergii lansbergii snake venom, has shown selective attack against the HeLa and Ca Ski cervical cancer cell lines. This work suggests that the cytotoxic effect generated by Pllans-II on HeLa cells is triggered without affecting the integrity of the cytoplasmic membrane or depolarizing the mitochondrial membranes. The results allow us to establish that cell death in HeLa is related to the junction blockage between α5ß1 integrins and fibronectin of the extracellular matrix. Pllans-II reduces the cells' ability of adhesion and affects survival and proliferation pathways mediated by intracellular communication with the external environment. Our findings confirmed Pllans-II as a potential prototype for developing a selective chemotherapeutic drug against cervical cancer.
Assuntos
Antineoplásicos , Neoplasias do Colo do Útero , Feminino , Humanos , Neoplasias do Colo do Útero/tratamento farmacológico , Adesão Celular , Células HeLa , Qualidade de Vida , Antineoplásicos/farmacologia , Antineoplásicos/uso terapêutico , Integrina alfa5beta1RESUMO
The antitumor potential of proteins from snake venoms has been studied in recent decades, and evidence has emerged that phospholipases A2 can selectively attack cells of various types of tumors. Previous results have shown that phospholipase A2 "Pllans-II," isolated from Porthidium lansbergii lansbergii snake venom, displayed antitumoral activity on cervical cancer and did not alter the viability of non-tumorigenic cells. However, until now, there was no evidence of its safety at the local and systemic levels, nor had experiments been developed to demonstrate that its production using recombinant technology allows us to obtain a molecule with effects similar to those generated by native phospholipase. Thus, we evaluated the impact caused by Pllans-II on murine biomodels, determining whether it induced local hemorrhage or increased pro-inflammatory and liver damage markers and histological alterations in the liver and kidneys. Additionally, the protein was produced using recombinant technology using a pET28a expression vector and the BL21 (DE3) Escherichia coli strain. Equally, its enzymatic activity and anticancer effect were evaluated on cervical cancer lines such as HeLa and Ca Ski. The results demonstrated that Pllans-II did not generate hemorrhagic activity, nor did it increase the pro-inflammatory cytokines IL-6, IL-1B, or TNF-α at doses of 3.28, 1.64, and 0.82 mg/kg. There was also no evidence of organ damage, and only ALT and AST increased in mild levels at the two highest concentrations. Additionally, the recombinant version of Pllans-II showed conservation in its catalytic activity and the ability to generate death in HeLa and Ca Ski cells (42% and 23%, respectively). These results demonstrate the innocuity of Pllans-II at the lowest dose and constitute an advance in considering a molecule produced using recombinant technology a drug candidate for selective attacks against cervical cancer.
Assuntos
Venenos de Crotalídeos , Neoplasias do Colo do Útero , Feminino , Humanos , Camundongos , Animais , Neoplasias do Colo do Útero/tratamento farmacológico , Fosfolipases A2 , Isoformas de Proteínas , Células HeLaRESUMO
Introduction: HPV infection is a common risk factor for all anogenital cancers. However, there are important differences in the epidemiology of anogenital cancers and these have not been compared considering diverse epidemiological indicators over a long period of time. To fill this gap, we investigated incidence, mortality, and survival trends of anogenital cancers over a period of three decades. Methods: We conducted an observational registry-based study using data from the population-based cancer registry of Granada in southern Spain. We collected data on all incident cases of anogenital cancer (cervical, anal, penile, vulvar, and vaginal cancer) diagnosed between 1985 and 2017. We calculated crude and age-standardized incidence and mortality rates, and 1, 3, and 5-year overall and net survival. We further conducted time-trend analysis calculating annual percent changes (APC) for each cancer site. Results: The incidence of anogenital cancers decreased slightly during the past 30 years, with the exception of vulvar cancer, where a slight increase was observed. Mortality decreased significantly for cervical cancer over the study period but increased non-significantly for the remaining cancer sites. Survival rates were similar to those reported in comparable countries and increased for cervical and vulvar cancer. Discussion: Cervical cancer was the greatest contributor to the burden of anogenital cancers and showed a marked improvement in all indicators in comparison to the remaining cancer sites.
Assuntos
Neoplasias do Ânus , Infecções por Papillomavirus , Neoplasias do Colo do Útero , Neoplasias Vulvares , Feminino , Humanos , Papillomavirus Humano , Neoplasias do Colo do Útero/epidemiologia , Neoplasias Vulvares/epidemiologia , Neoplasias Vulvares/complicações , Neoplasias do Ânus/epidemiologia , Neoplasias do Ânus/diagnóstico , Infecções por Papillomavirus/complicaçõesRESUMO
[RESUMEN]. El objetivo de este informe especial es presentar los avances en Latinoamérica sobre la regulación de la venta de productos médicos a través de internet y ofrecer orientación a las Autoridades Reguladoras Nacionales (ARN) en la planificación y ejecución de estrategias para la regulación y fiscalización del comercio electró- nico de productos médicos. Se presentan los avances regulatorios y de programas, e iniciativas efectuadas por cuatro países de América Latina para el control de la venta de productos médicos a través de Internet, incluyendo revisiones complementarias de la literatura y de programas para el control del comercio elec- trónico de agencias de referencia. A partir de esta revisión, se proponen las siguientes líneas estratégicas: fortalecimiento del marco regulatorio y normativo; fortalecimiento de la capacidad fiscalizadora; colaboración con autoridades y otros actores clave nacionales e internacionales; y comunicación y sensibilización con la comunidad y los profesionales de salud. Cada una de estas estrategias deben ir acompañadas con acciones específicas, que pueden servir como orientaciones para las ARN de las Américas, y de países con contextos similares para el fortalecimiento de sus marcos regulatorios y la protección de los pacientes y consumidores.
[ABSTRACT]. The objective of this special report is to present the advances in Latin America on regulation of the online sale of medical products and to offer guidance to national regulatory authorities (NRAs) on planning and implemen- ting strategies to regulate and oversee the e-commerce of medical products. The regulatory advances and the programs and initiatives implemented in four Latin American countries to control the online sale of medical products are presented, including complementary reviews of the literature and reviews of e-commerce control programs of agencies of reference. Based on this review, the following strategies are proposed: strengthening the regulatory and policy framework; strengthening the capacity for oversight; collaboration with national and international authorities and other key players; and communication and awareness-raising with the community and health care professionals. Each of these strategies should be accompanied by specific actions that can serve as guidelines for NRAs in the Americas and in countries with similar contexts, to strengthen their regula- tory frameworks and patient and consumer protections.
[RESUMO]. O objetivo deste relatório especial é apresentar os avanços na regulamentação da comercialização de pro- dutos médicos pela internet na América Latina e oferecer orientações às Autoridades Reguladoras Nacionais (ARN) sobre planejamento e execução de estratégias de regulamentação e fiscalização do comércio eletrô- nico de produtos médicos. São apresentados avanços regulatórios e programáticos, bem como iniciativas realizadas por quatro países latino-americanos para controlar a venda de produtos médicos pela internet, incluindo revisões complementares da literatura e programas de controle do comércio eletrônico por agências reguladoras de referência. Com base nesta revisão, propõem-se as seguintes linhas estratégicas: fortaleci- mento do marco regulatório e normativo; fortalecimento da capacidade de fiscalização; colaboração com autoridades e outros atores-chave nacionais e internacionais; e comunicação e sensibilização da comuni- dade em geral e dos profissionais de saúde. Cada uma dessas estratégias deve ser acompanhada de ações específicas, que podem servir de diretrizes para as ARN das Américas – e de países com contextos seme- lhantes – para fortalecer seus marcos regulatórios e a proteção de pacientes e consumidores.
Assuntos
Medicamentos Falsificados , Comércio Eletrônico , Disponibilidade de Medicamentos Via Internet , Internet , Medicamentos Falsificados , Comércio Eletrônico , Disponibilidade de Medicamentos Via Internet , Comércio Eletrônico , Disponibilidade de Medicamentos Via InternetRESUMO
RESUMEN El objetivo de este informe especial es presentar los avances en Latinoamérica sobre la regulación de la venta de productos médicos a través de internet y ofrecer orientación a las Autoridades Reguladoras Nacionales (ARN) en la planificación y ejecución de estrategias para la regulación y fiscalización del comercio electrónico de productos médicos. Se presentan los avances regulatorios y de programas, e iniciativas efectuadas por cuatro países de América Latina para el control de la venta de productos médicos a través de Internet, incluyendo revisiones complementarias de la literatura y de programas para el control del comercio electrónico de agencias de referencia. A partir de esta revisión, se proponen las siguientes líneas estratégicas: fortalecimiento del marco regulatorio y normativo; fortalecimiento de la capacidad fiscalizadora; colaboración con autoridades y otros actores clave nacionales e internacionales; y comunicación y sensibilización con la comunidad y los profesionales de salud. Cada una de estas estrategias deben ir acompañadas con acciones específicas, que pueden servir como orientaciones para las ARN de las Américas, y de países con contextos similares para el fortalecimiento de sus marcos regulatorios y la protección de los pacientes y consumidores.
ABSTRACT The objective of this special report is to present the advances in Latin America on regulation of the online sale of medical products and to offer guidance to national regulatory authorities (NRAs) on planning and implementing strategies to regulate and oversee the e-commerce of medical products. The regulatory advances and the programs and initiatives implemented in four Latin American countries to control the online sale of medical products are presented, including complementary reviews of the literature and reviews of e-commerce control programs of agencies of reference. Based on this review, the following strategies are proposed: strengthening the regulatory and policy framework; strengthening the capacity for oversight; collaboration with national and international authorities and other key players; and communication and awareness-raising with the community and health care professionals. Each of these strategies should be accompanied by specific actions that can serve as guidelines for NRAs in the Americas and in countries with similar contexts, to strengthen their regulatory frameworks and patient and consumer protections.
RESUMO O objetivo deste relatório especial é apresentar os avanços na regulamentação da comercialização de produtos médicos pela internet na América Latina e oferecer orientações às Autoridades Reguladoras Nacionais (ARN) sobre planejamento e execução de estratégias de regulamentação e fiscalização do comércio eletrônico de produtos médicos. São apresentados avanços regulatórios e programáticos, bem como iniciativas realizadas por quatro países latino-americanos para controlar a venda de produtos médicos pela internet, incluindo revisões complementares da literatura e programas de controle do comércio eletrônico por agências reguladoras de referência. Com base nesta revisão, propõem-se as seguintes linhas estratégicas: fortalecimento do marco regulatório e normativo; fortalecimento da capacidade de fiscalização; colaboração com autoridades e outros atores-chave nacionais e internacionais; e comunicação e sensibilização da comunidade em geral e dos profissionais de saúde. Cada uma dessas estratégias deve ser acompanhada de ações específicas, que podem servir de diretrizes para as ARN das Américas - e de países com contextos semelhantes - para fortalecer seus marcos regulatórios e a proteção de pacientes e consumidores.
RESUMO
COVID-19 is a disease caused by the novel Coronavirus SARS-CoV-2 causing an acute respiratory disease that can eventually lead to severe acute respiratory syndrome (SARS). An exacerbated inflammatory response is characteristic of SARS-CoV-2 infection, which leads to a cytokine release syndrome also known as cytokine storm associated with the severity of the disease. Considering the importance of this event in the immunopathology of COVID-19, this study analyses cytokine levels of hospitalized patients to identify cytokine profiles associated with severity and mortality. Using a machine learning approach, 3 clusters of COVID-19 hospitalized patients were created based on their cytokine profile. Significant differences in the mortality rate were found among the clusters, associated to different CXCL10/IL-38 ratio. The balance of a CXCL10 induced inflammation with an appropriate immune regulation mediated by the anti-inflammatory cytokine IL-38 appears to generate the adequate immune context to overrule SARS-CoV-2 infection without creating a harmful inflammatory reaction. This study supports the concept that analyzing a single cytokine is insufficient to determine the outcome of a complex disease such as COVID-19, and different strategies incorporating bioinformatic analyses considering a broader immune profile represent a more robust alternative to predict the outcome of hospitalized patients with SARS-CoV-2 infection.
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Introduction: Children with cerebral palsy (CP) are at high risk of developing oral diseases. Objective: To propose an early dental care protocol for infants with CP. Materials and Methods: A computerized systematic search was performed in the PubMed, Scopus and Embase electronic databases for relevant articles. An early dental care protocol was then proposed for infants with cerebral palsy focused on comprehensive care with a multidisciplinary approach and effective health promotion by caregivers. Results: Fifteen published papers were included in the present literature review and protocol proposal. The protocol comprised the following topics: First dental visit, aspects related to the appointment, oral hygiene recommendations, dietary recommendations and recommendations for the prevention and control of harmful oral habits. The first dental visit should occur prior to the eruption of the teeth. As a special group, it is important to determine the affective bond between the patient and caregiver who will receive the oral health care recommendations. During the clinical examination, the correct positioning and stabilization of the infant is important for the control of involuntary movements and the minimization of swallowing difficulties. Counseling with regards to adequate oral hygiene, a healthy diet and the prevention of harmful oral habits is important to the prevention of dental diseases. Children with oral-motor motility problems and feeding difficulties should be referred to therapeutic follow-up. Due to the neuropsychomotor disorders often found in cerebral palsy, affected children are more vulnerable to oral diseases. Thus, oral health care must be performed as early as possible by the parents/caregivers of these children. Conclusion: Individuals with cerebral palsy are at greater risk of developing oral problems. Thus, oral health programs starting in early childhood and targeting the specificities of these individuals is a strategy for minimizing the occurrence of such problems and the associated burden.
Introdução: Crianças com Paralisia Cerebral (PC) apresentam um alto risco para o desenvolvimento de doenças bucais. Objetivo: Propor um protocolo de atendimento odontológico precoce para lactentes com PC. Materiais e Métodos: Foi realizada uma busca computadorizada sistemática nas bases de dados eletrônicas PubMed, Scopus e Embase. Também foi desenvolvida uma proposta de protocolo de atendimento a bebês com Paralisia Cerebral com foco no cuidado integral, abordagem transdisciplinar e promoção efetiva da saúde pelos cuidadores. Resultados: Foram incluídos 15 artigos publicados na literatura científica. O protocolo desenvolvido é composto pelos seguintes tópicos: Primeira consulta odontológica, tempo ideal da consulta, recomendações de higiene bucal, recomendações sobre dieta e recomendações sobre prevenção e controle dos hábitos bucais. A primeira visita ao dentista deve ser feita antes da erupção do primeiro dente. Como um grupo especial, é importante determinar o vínculo afetivo entre o paciente e o cuidador que receberá as recomendações de cuidados com a saúde bucal. Durante o exame clínico, a correta posição e estabilização do bebê na cadeira odontológica é importante para controlar os movimentos involuntários e reduzir a dificuldade de deglutição. Recomendações quanto à higiene bucal adequada, alimentação saudável e prevenção de hábitos bucais deletérios são importantes para prevenir o desenvolvimento de doenças bucais. Crianças com problemas de motilidade oral-motora e dificuldades de alimentação devem ser encaminhadas para acompanhamento terapêutico. Devido à presença de distúrbios neuropsicomotores normalmente presentes na Paralisia Cerebral, as crianças afetadas são mais vulneráveis às doenças bucais. Assim, os cuidados com a saúde bucal devem ser realizados o quanto antes pelos pais/responsáveis. Conclusão: Indivíduos com PC apresentam maior risco de desenvolver doenças bucais e programas de saúde bucal iniciados na primeira infância e direcionados às suas especificidades podem ser uma estratégia para minimizar as consequências que possam vir a acontecer.
Assuntos
Humanos , Criança , Paralisia Cerebral/complicações , Saúde Bucal , Assistência Odontológica para a Pessoa com Deficiência , Protocolos ClínicosRESUMO
Introducción: La Hipercolesterolemia familiar (HF) es una enfermedad genética de carácter autosómico dominante, poco frecuente, generada por la mutación en el cromosoma 19. Es la primera causa de enfermedad cardiovascular prematura. Las mutaciones patogénicas que generan la HF se relacionan con el receptor de LDL (LDLr), la apolipoproteina B-100 (Apo- B100) y la proteína convertasa subtilisina / kexina tipo 9 (PCSK9), que produce elevación del colesterol y alteración de la vía del LDLr en el 80 % de los casos diagnosticados de HF (5). Presentamos un reporte de caso de cuatro pacientes que pertenecen a la misma familia, quienes presentan mutaciones patogénicas de diferente compromiso a nivel cardiovascular y sistémico que ha afectado de manera negativa su cotidianidad. El objetivo de este trabajo es realizar una correlación del hipercolesterolemia familiar de tipo genético a partir de la literatura, con respecto a la serie de casos presentada, y evaluar el impacto que este genera en los servicios de salud, en la vida del paciente y su familia. Discusión: El reporte de caso que presentamos se fundamenta en la sospecha de HF según los criterios de Holanda. En estos pacientes se reconoce mutación del gen LDLr que se relaciona con HF. Sin embargo, no ha sido ampliamente estudiada. Chmara realizó en Polonia por primera vez un estudio en el que reportó la variante ac 11G>T. En Colombia, el estudio de López encontró tres mutaciones, identificadas como variante a c.11G > A, n c.416A > G y c.1187G > A (8). Conclusión: La HF en nuestro medio es poco frecuente y con gran impacto social, en la mayoría de los casos genera síntomas clínicos y aumento del riesgo cardiovascular desde una edad temprana. Es importante resaltar el diagnóstico oportuno y el conocimiento por parte del personal de salud para generar una calidad de vida adecuada a los pacientes y evitar que aumente el riesgo cardiovascular.
Introduction: Familial hypercholesterolemia (FH) is a rare autosomal dominant genetic disease caused by a chromosome 19 mutation. It is the main cause of premature cardiovascular disease. Pathogenic mutations which cause FH are related to the LDL receptor (LDLr), B-100 apolipoprotein (Apo-B100) and type 9 subtilisin/kexin convertase protein (PCSK9), causing blood cholesterol increase and impairment of the LDLr pathway in up to 80% of patients diagnosed with FH. We present the case of 4 patients belonging to the same family and who present pathogenic mutations leading to diverse kinds of cardiovascular and systemic disease. Discussion: The case report we are presenting is based on the suspicion of FH according to the dutch criteria. These patients had the LDLr gene mutation related to FH. However, this mutation has not been thoroughly studied. The ac 11G>T variant was reported for the first time in Poland by Chmara. In Colombia, Lopez found 3 mutations identified as variant a c.11G > A, variant n c.416A > G and variant c.1187G > A. Conclusion: FH is rare in Colombia. Early diagnosis and healthcare worker awareness must be highlighted to improve the quality of life and decrease the cardiovascular risk of patients.
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We report two snakebites by Micrurus ortoni in Colombia and one by M. hemprichii in Perú. In two of the cases, we observed mild to moderate motor neurological involvement and in all patients, there was a marked sensory effect with hyperesthesia and hyperalgesia radiating from the bite site to the entire ipsilateral hemibody. The only patient who received antivenom, which did not correspond with the type of envenomation, developed equine serum sickness eight days after its administration. The results of the laboratory tests, including an electromyographic study, the photographic record of the clinical manifestations, and the causative agents are presented and discussed.
Se reportan dos casos de mordedura por serpientes de la especie Micrurus ortoni en Colombia y uno por M. hemprichii en Perú. En dos de los casos se observó afección neurológica motora leve a moderada y, en todos, se presentó un acentuado trastorno sensitivo con hiperestesia e hiperalgesia irradiada desde el sitio de la mordedura hacia todo el hemicuerpo comprometido. El único paciente que recibió antiveneno, el cual no era específico para el tipo de envenenamiento, desarrolló una reacción al suero equino a los ocho días de su aplicación. Se presentan y discuten los resultados de las pruebas de laboratorio, incluido el estudio electromiográfico, así como el registro fotográfico de las manifestaciones clínicas y de los agentes causales.
Assuntos
Cobras Corais , Mordeduras de Serpentes , Animais , Colômbia , Venenos Elapídicos , Elapidae , Cavalos , Humanos , Peru , Mordeduras de Serpentes/tratamento farmacológicoRESUMO
Resumen | Se reportan dos casos de mordedura por serpientes de la especie Micrurus ortoni en Colombia y uno por M. hemprichii en Perú. En dos de los casos se observó afección neurológica motora leve a moderada y, en todos, se presentó un acentuado trastorno sensitivo con hiperestesia e hiperalgesia irradiada desde el sitio de la mordedura hacia todo el hemicuerpo comprometido. El único paciente que recibió antiveneno, el cual no era específico para el tipo de envenenamiento, desarrolló una reacción al suero equino a los ocho días de su aplicación. Se presentan y discuten los resultados de las pruebas de laboratorio, incluido el estudio electromiográfico, así como el registro fotográfico de las manifestaciones clínicas y de los agentes causales.
Abstract | We report two snakebites by Micrurus ortoni in Colombia and one by M. hemprichii in Perú. In two of the cases, we observed mild to moderate motor neurological involvement and in all patients, there was a marked sensory effect with hyperesthesia and hyperalgesia radiating from the bite site to the entire ipsilateral hemibody. The only patient who received antivenom, which did not correspond with the type of envenomation, developed equine serum sickness eight days after its administration. The results of the laboratory tests, including an electromyographic study, the photographic record of the clinical manifestations, and the causative agents are presented and discussed.
Assuntos
Mordeduras de Serpentes , Cobras Corais , Peru , ColômbiaRESUMO
Pressure injury (PI) corresponds to a skin damage of ischemic aetiology that affects the integrity of the skin and is produced by prolonged pressure or friction between a hard internal and external surface. Treatment can be challenging when there is no resolution with usual care. The use of autologous platelet-rich plasma (APRP) gel arises as a therapeutic possibility in the presence of chronic pressure injuries. The case of a patient with chronic PI who has been treated with APRP is presented, achieving resolution of the lesion.
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ABSTRACT Mutations in the ABCA4 gene are a common cause of Stargardt disease; however, other retinal phenotypes have also been associated with mutations in this gene. We describe an observational case report of an unusual clinical phenotype of Stargardt disease. The ophthalmological examination included best corrected visual acuity, color and autofluorescence photography, fluorescein angiography, optical coherence tomography, and electrophysiology tests. Targeted next-generation sequencing of 99 genes associated with inherited retinal dystrophies was performed in the index patient. A 48-year-old woman presented with a best corrected visual acuity of 20/25 and 20/20. Fundoscopy revealed perifoveal yellow flecked-like lesions. Fluorescein angiography and fundus autofluorescence findings were consistent with pattern dystrophy. Pattern electroretinogram demonstrated bilateral decrease of p50 values. Genetic testing identified two heterozygous missense mutations, c.428C>T, p.(Pro143Leu) and c.3113C>T, p.(Ala.1038Val), in the ABCA4 gene. Based on our results, we believe that these particular mutations in the ABCA4 gene could be associated with a specific disease phenotype characterized by funduscopic appearance similar to pattern dystrophy. A detailed characterization of the retinal phenotype in patients carrying specific mutations in ABCA4 is crucial to understand disease expression and ensure optimal clinical care for patients with inherited retinal dystrophies.
RESUMO Mutações no gene ABCA4 são causa comum da doença de Stargardt, mas outros fenótipos da retina também foram associados a mutações nesse gene. Apresentamos um relato de caso observacional de um fenótipo clínico incomum da doença de Stargardt. O exame oftalmológico incluiu a acuidade visual com melhor correção, fotografia em cores e com autofluorescência, angiofluoresceinografia, tomografia de coerência óptica e testes de eletrofisiologia. Na paciente em questão, realizou-se o sequenciamento de próxima geração de 99 genes associados a distrofias retinais hereditárias. Tratava-se de uma mulher de 48 anos com melhor acuidade visual corrigida de 20/25 e 20/20. A fundoscopia revelou lesões puntiformes amarelas perifoveais. Os resultados da angiofluoresceinografia e da autofluorescência do fundo de olho foram consistentes com distrofia em padrão. A eletrorretinografia por padrões mostrou diminuição bilateral dos valores de p50. Os testes genéticos revelaram duas mutações missense heterozigóticas, c.428C>T, p. (Pro143Leu) e c.3113C>T, p. (Ala.1038Val), no gene ABCA4. Nossos resultados nos fazem pensar que essas mutações específicas em ABCA4 talvez possam estar associadas a um fenótipo específico da doença, caracterizado por uma aparência fundoscópica semelhante à da distrofia em padrão. Uma caracterização detalhada do fenótipo da retina em pacientes portadores de mutações específicas em ABCA4 é crucial para compreender a expressão da doença e para garantir o tratamento clínico ideal para pacientes com distrofias retinais hereditárias.
RESUMO
Introduction: Snakebite is a relevant public health problem in Colombia, which is evident in epidemiological data at the Latin American level, where it ranks third place in the number of snakebites, after México and Brazil. Objective: To perform a retrospective analysis of snakebite accidents in the department of Cauca between 2009 and 2018 based on the data from the Public Health Surveillance System of Colombia reported to the Health Institute of Cauca. Materials and methods: We compiled and interpreted the information from the compulsory snakebite notification forms for the study's 10 years period. We determined snakebite incidence and frequency according to the geographical distribution and the causal agents, and we analyzed related socioeconomic variables as well. Results: The records accounted for 1,653 cases and low mortality. Bothrops and Bothriechis species (77.43%) caused most of the accidents followed by Micrurus (2.9%). Most of the notifications came from the south of the department, and males and farmers were the most affected with bites mainly in the upper extremities. During poisoning, hemorrhagic manifestations predominated over necrosis and infections; serotherapy criteria were not always adequately applied, however, iatrogenic complications were not frequent. Conclusions: El Tambo and Piamonte municipalities, being male, and rural areas were the variables most affected by ophidism, mainly bothropic ophidism. The highest incidences occurred in the southern part of Cauca, in the Patía and Caquetá river basins.
Introducción. El ofidismo en Colombia es un problema de salud pública, lo cual se hace evidente al examinar los datos epidemiológicos a nivel latinoamericano, pues el país ocupa el tercer lugar en número de accidentes ofídicos después de Brasil y México. Objetivo. Hacer un análisis retrospectivo de los casos de accidente ofídico ocurridos entre 2009 y 2018 en el departamento de Cauca, según los datos del Sistema de Vigilancia en Salud Pública (Sivigila) registrados en el Instituto Departamental de Salud del Cauca. Materiales y métodos. Se recopiló e interpretó la información consignada en las fichas de notificación obligatoria de accidente ofídico en los 10 años de estudio. Se determinaron la incidencia y la frecuencia de accidentes según la distribución geográfica y los agentes causales, y se analizaron las variables socioeconómicas relacionadas. Resultados. Se registraron 1.653 casos y una baja mortalidad. Los géneros Bothrops y Bothriechis causaron la mayoría (77,43 %) de los accidentes, seguidos por el género Micrurus (2,9 %). La mayoría de las notificaciones procedían del sur del departamento; las personas de sexo masculino y los agricultores fueron los más afectados, con mordeduras en las extremidades superiores principalmente. Las principales manifestaciones del envenenamiento fueron las hemorrágicas, más frecuentes que la necrosis y la infección. Aunque el criterio para utilizar la seroterapia no siempre fue el mejor, las complicaciones iatrogénicas no fueron frecuentes. Conclusiones. Los municipios de El Tambo y Piamonte, las personas de sexo masculino y las áreas rurales, fueron las variables más afectadas por el ofidismo, principalmente el ofidismo botrópico. Las mayores incidencias se presentaron en la zona sur del Cauca, en las cuencas de los ríos Patía y Caquetá.
Assuntos
Bothrops , Mordeduras de Serpentes , Animais , Brasil , Colômbia/epidemiologia , Incidência , Masculino , Estudos Retrospectivos , Mordeduras de Serpentes/epidemiologiaRESUMO
Resumen | Introducción. El ofidismo en Colombia es un problema de salud pública, lo cual se hace evidente al examinar los datos epidemiológicos a nivel latinoamericano, pues el país ocupa el tercer lugar en número de accidentes ofídicos después de Brasil y México. Objetivo. Hacer un análisis retrospectivo de los casos de accidente ofídico ocurridos entre 2009 y 2018 en el departamento de Cauca, según los datos del Sistema de Vigilancia en Salud Pública (Sivigila) registrados en el Instituto Departamental de Salud del Cauca. Materiales y métodos. Se recopiló e interpretó la información consignada en las fichas de notificación obligatoria de accidente ofídico en los 10 años de estudio. Se determinaron la incidencia y la frecuencia de accidentes según la distribución geográfica y los agentes causales, y se analizaron las variables socioeconómicas relacionadas. Resultados. Se registraron 1.653 casos y una baja mortalidad. Los géneros Bothrops y Bothriechis causaron la mayoría (77,43 %) de los accidentes, seguidos por el género Micrurus (2,9 %). La mayoría de las notificaciones procedían del sur del departamento; las personas de sexo masculino y los agricultores fueron los más afectados, con mordeduras en las extremidades superiores principalmente. Las principales manifestaciones del envenenamiento fueron las hemorrágicas, más frecuentes que la necrosis y la infección. Aunque el criterio para utilizar la seroterapia no siempre fue el mejor, las complicaciones iatrogénicas no fueron frecuentes. Conclusiones. Los municipios de El Tambo y Piamonte, las personas de sexo masculino y las áreas rurales, fueron las variables más afectadas por el ofidismo, principalmente el ofidismo botrópico. Las mayores incidencias se presentaron en la zona sur del Cauca, en las cuencas de los ríos Patía y Caquetá.
Abstract | Introduction: Snakebite is a relevant public health problem in Colombia, which is evident in epidemiological data at the Latin American level, where it ranks third place in the number of snakebites, after México and Brazil. Objective: To perform a retrospective analysis of snakebite accidents in the department of Cauca between 2009 and 2018 based on the data from the Public Health Surveillance System of Colombia reported to the Health Institute of Cauca. Materials and methods: We compiled and interpreted the information from the compulsory snakebite notification forms for the study's 10 years period. We determined snakebite incidence and frequency according to the geographical distribution and the causal agents, and we analyzed related socioeconomic variables as well. Results: The records accounted for 1,653 cases and low mortality. Bothrops and Bothriechis species (77.43%) caused most of the accidents followed by Micrurus (2.9%). Most of the notifications came from the south of the department, and males and farmers were the most affected with bites mainly in the upper extremities. During poisoning, hemorrhagic manifestations predominated over necrosis and infections; serotherapy criteria were not always adequately applied, however, iatrogenic complications were not frequent. Conclusions: El Tambo and Piamonte municipalities, being male, and rural areas were the variables most affected by ophidism, mainly bothropic ophidism. The highest incidences occurred in the southern part of Cauca, in the Patía and Caquetá river basins.
Assuntos
Mordeduras de Serpentes , Colômbia , Bothrops , Doenças NegligenciadasRESUMO
Mutations in the ABCA4 gene are a common cause of Stargardt disease; however, other retinal phenotypes have also been associated with mutations in this gene. We describe an observational case report of an unusual clinical phenotype of Stargardt disease. The ophthalmological examination included best corrected visual acuity, color and autofluorescence photography, fluorescein angiography, optical coherence tomography, and electrophysiology tests. Targeted next-generation sequencing of 99 genes associated with inherited retinal dystrophies was performed in the index patient. A 48-year-old woman presented with a best corrected visual acuity of 20/25 and 20/20. Fundoscopy revealed perifoveal yellow flecked-like lesions. Fluorescein angiography and fundus autofluorescence findings were consistent with pattern dystrophy. Pattern electroretinogram demonstrated bilateral decrease of p50 values. Genetic testing identified two heterozygous missense mutations, c.428C>T, p.(Pro143Leu) and c.3113C>T, p.(Ala.1038Val), in the ABCA4 gene. Based on our results, we believe that these particular mutations in the ABCA4 gene could be associated with a specific disease phenotype characterized by funduscopic appearance similar to pattern dystrophy. A detailed characterization of the retinal phenotype in patients carrying specific mutations in ABCA4 is crucial to understand disease expression and ensure optimal clinical care for patients with inherited retinal dystrophies.
Assuntos
Transportadores de Cassetes de Ligação de ATP , Eletrorretinografia , Transportadores de Cassetes de Ligação de ATP/genética , Feminino , Angiofluoresceinografia , Humanos , Pessoa de Meia-Idade , Mutação , Fenótipo , Doença de Stargardt , Tomografia de Coerência ÓpticaRESUMO
RESUMEN Introducción: El síndrome de Gitelman es una tubulopatía caracterizada por alcalosis metabólica hipopotasémica, hipomagnesemia e hipocalciuria. Sus efectos musculoesqueléticos son comunes, pudiendo provocar desarrollo de condrocalcinosis. Caso clínico: Paciente con condrocalcinosis de larga data asociada a hipomagnesemia crónica en tratamiento con calcio y magnesio. Tras la suspensión del tratamiento debido a una intervención quirúrgica presentó debilidad generalizada, alcalosis metabólica, hipopotasemia, hipomagnesemia e hipocalciuria con diagnóstico final de síndrome de Gitelman. Tras la instauración de tratamiento, mejoró clínica y analíticamente manteniendo cifras iónicas estables. Discusión y conclusiones: Resulta fundamental un adecuado diagnóstico de este tipo de tubulopatías, ya que un tratamiento adecuado evita complicaciones asociadas.
ABSTRACT Introduction: Gitelman syndrome is a renal tubule disease that involves hypokalaemic metabolic alkalosis, hypomagnesaemia and hypocalciuria. The musculoskeletal effects of Gitelman syndrome are common, including the development of chondrocalcinosis. Clinical case: A female patient with long-standing chondrocalcinosis associated with chronic hypomagnesaemia on treatment with calcium and magnesium. After the suspension of the treatment due to surgery, she presented with a generalised weakness, metabolic alkalosis, hypokalaemia, hypomagnesaemia and hypocalciuria, with final diagnosis of Gitelman syndrome. After re-introducing the treatment, she improved clinically, with electrolytes remaining stable. Discussion and conclusions: A proper diagnosis of this type of tubular diseases is essential because an adequate treatment avoids associated complications.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Condrocalcinose , Diagnóstico , Síndrome de Gitelman , Reumatologia , Terapêutica , DoençaRESUMO
Introduction. Snakebite envenoming is a relevant public health problem, and, in Colombia, it was included as a mandatory notification event since 2004. Because it is a tropical country with great ecosystem diversity, it occupies third place in Latin America, after Mexico and Brazil, reaching the highest number of snakebites. Objective. To carry out a retrospective analysis of snakebites in the department of Nariño based on the notifications reported to the Instituto Departamental de Salud de Nariño and the Sistema de Vigilancia en Salud Pública de Colombia between the years 2008 and 2017. Materials and methods. A descriptive and retrospective analysis was carried out based on the study, and interpretation of the information contained in the notification sheets for ophidian accidents of the Instituto Departamental de Salud de Nariño between the years 2008 and 2017. The snakebite frequency at the municipal level was represented by the elaboration of a map and the responsible genus were identified. Results. A total of 1,110 cases were reported for ophidian accidents. Seventy- eight point thirteen per cent of the municipalities made some notification. A pattern of constant increase in the case number during the 10 years is evident, with exception of 2017; the sociodemographic characteristics are maintained. Conclusions. The municipality of San Andrés de Tumaco, the masculine gender and the rural areas are mostly affected by snakebites, caused mainly by the Bothrops genus and the highest snakebite incidence was seen in July.
Introducción. El ofidismo es un relevante problema de salud pública y, en Colombia, se incluyó como un evento de notificación obligatoria desde el año 2004. Por ser un país tropical con gran diversidad ecosistémica, ocupa el tercer puesto en Latinoamérica, después de México y Brasil, en presentar el mayor número de accidentes ofídicos. Objetivo. Realizar un análisis retrospectivo del accidente ofídico en el departamento de Nariño, con base en los eventos notificados entre los años 2008 y 2017 al Instituto Departamental de Salud de Nariño y al Sistema de Vigilancia en Salud Pública de Colombia. Materiales y métodos. Se hizo un análisis de tipo descriptivo y retrospectivo a partir de la recopilación e interpretación de la información consignada en las fichas de notificación para accidente ofídico del Instituto Departamental de Salud de Nariño, entre los años 2008 y 2017. Se representó la frecuencia del accidente ofídico a nivel municipal mediante la elaboración de un mapa y se identificaron los géneros responsables del mismo. Resultados. Se reporta un total de 1.110 casos. El 78,13 % de los municipios hizo alguna notificación. Se observa un patrón de aumento constante en el número de casos durante los 10 años, a excepción de 2017. Las características sociodemográficas se mantuvieron durante el periodo de estudio. Conclusiones. El municipio de San Andrés de Tumaco, el sexo masculino y las áreas rurales son los principales afectados por el ofidismo causado, en mayor medida, por el género Bothrops. La mayor incidencia se presentó en el mes de julio.
Assuntos
Mordeduras de Serpentes/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Animais , Antivenenos/uso terapêutico , Criança , Pré-Escolar , Colômbia/epidemiologia , Coleta de Dados/métodos , Notificação de Doenças/estatística & dados numéricos , Feminino , Geografia Médica/classificação , Humanos , Incidência , Lactente , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Distribuição por Sexo , Mordeduras de Serpentes/complicações , Mordeduras de Serpentes/tratamento farmacológico , Serpentes/classificação , Adulto JovemRESUMO
Introducción. El ofidismo es un relevante problema de salud pública y, en Colombia, se incluyó como un evento de notificación obligatoria desde el año 2004. Por ser un país tropical con gran diversidad ecosistémica, ocupa el tercer puesto en Latinoamérica, después de México y Brasil, en presentar el mayor número de accidentes ofídicos. Objetivo. Realizar un análisis retrospectivo del accidente ofídico en el departamento de Nariño, con base en los eventos notificados entre los años 2008 y 2017 al Instituto Departamental de Salud de Nariño y al Sistema de Vigilancia en Salud Pública de Colombia. Materiales y métodos. Se hizo un análisis de tipo descriptivo y retrospectivo a partir de la recopilación e interpretación de la información consignada en las fichas de notificación para accidente ofídico del Instituto Departamental de Salud de Nariño, entre los años 2008 y 2017. Se representó la frecuencia del accidente ofídico a nivel municipal mediante la elaboración de un mapa y se identificaron los géneros responsables del mismo. Resultados. Se reporta un total de 1.110 casos. El 78,13 % de los municipios hizo alguna notificación. Se observa un patrón de aumento constante en el número de casos durante los 10 años, a excepción de 2017. Las características sociodemográficas se mantuvieron durante el periodo de estudio. Conclusiones. El municipio de San Andrés de Tumaco, el sexo masculino y las áreas rurales son los principales afectados por el ofidismo causado, en mayor medida, por el género Bothrops. La mayor incidencia se presentó en el mes de julio.
Introduction. Snakebite envenoming is a relevant public health problem, and, in Colombia, it was included as a mandatory notification event since 2004. Because it is a tropical country with great ecosystem diversity, it occupies third place in Latin America, after Mexico and Brazil, reaching the highest number of snakebites. Objective. To carry out a retrospective analysis of snakebites in the department of Nariño based on the notifications reported to the Instituto Departamental de Salud de Nariño and the Sistema de Vigilancia en Salud Pública de Colombia between the years 2008 and 2017. Materials and methods. A descriptive and retrospective analysis was carried out based on the study, and interpretation of the information contained in the notification sheets for ophidian accidents of the Instituto Departamental de Salud de Nariño between the years 2008 and 2017. The snakebite frequency at the municipal level was represented by the elaboration of a map and the responsible genus were identified. Results. A total of 1,110 cases were reported for ophidian accidents. Seventy- eight point thirteen per cent of the municipalities made some notification. A pattern of constant increase in the case number during the 10 years is evident, with exception of 2017; the sociodemographic characteristics are maintained. Conclusions. The municipality of San Andrés de Tumaco, the masculine gender and the rural areas are mostly affected by snakebites, caused mainly by the Bothrops genus and the highest snakebite incidence was seen in July.
Assuntos
Mordeduras de Serpentes , Colômbia , Bothrops , Doenças NegligenciadasRESUMO
En los últimos años, se han desarrollado alternativas estéticas a las coronas metálicas preformadas debido a la alta demanda por parte de los padres para proporcionarles a sus niños restauraciones que les brinden una apariencia natural a los dientes deciduos. El presente estudio describe los casos de 3 niños pre escolares cuyas piezas fueron rehabilitadas con coronas de zirconia. Se les realizó un seguimiento a corto plazo, donde se consideró la evaluación del índice gingival (IG), índice de placa (IP), adaptación marginal (AM) e IHOS, para la evaluación de la salud gingival e higiene oral. Se halló que las coronas de zirconia preformadas permitieron la recuperación y conservación de la salud de los tejidos gingivales de los niños evaluados.