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During the winter of 2023, Chile faced a complex situation related to the respiratory syncytial virus (RSV). After experiencing a decline in RSV circulation during the years of the SARS-CoV-2 pandemic, a late outbreak was observed in the spring of 2022 and an early onset of the outbreak in 2023, with a significant increase in the number of serious cases. The ineffectiveness of strategic planning and risk communication contributed to the complexity of the situation. To avoid the above next winter, measures such as active surveillance, unification of definitions for acute respiratory infections, identification of RSV variants, public education about infections and advance preparation regarding hospital beds and health personnel are suggested. The importance of immunization and intersectoral collaboration to acquire new preventive alternatives is highlighted, as well as the need for early communication about the importance of immunization and identification of high-risk groups, improvement in training of medical personnel and strategic planning of the Ministry of Health. seeking a proactive and collaborative approach to address the complex RSV situation in future winters. The Chilean Immunization Advisory Committee has already carried out an analysis and recommendation on a new prevention alternative. This working group will support any decision of the Ministry of Health in public policies that attempt a change in the paradigm of control of this disease for the health of the children of our country.
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Infecções por Vírus Respiratório Sincicial , Vírus Sincicial Respiratório Humano , Infecções Respiratórias , Criança , Humanos , Infecções por Vírus Respiratório Sincicial/diagnóstico , Infecções por Vírus Respiratório Sincicial/epidemiologia , Infecções por Vírus Respiratório Sincicial/prevenção & controle , Imunização , VacinaçãoRESUMO
RESUMEN Antecedentes : las ventajas de la hepatectomía videolaparoscópica (HVL) hicieron que gane cada vez más campo para el tratamiento de los tumores hepáticos benignos (THB). Objetivo : comparar los resultados perioperatorios de pacientes sometidos a HVL con los de los operados con hepatectomía abierta (HA) por THB, emparejados con propensity score matching (PSM). Material y métodos : estudio descriptivo, retrospectivo y comparativo de HA y HVL por THB entre agosto de 2010 y junio de 2021. Se analizaron variables demográficas, preoperatorias, intraoperatorias y posoperatorias. Para evitar sesgos de las distintas covariables entre los grupos se realizó un PSM 1:1. Resultados : de 403 hepatectomías, se analizaron 82 por THB. De ellas 36 (44%) fueron HA y 46 (56%) HVL. Edad media 45 ±14 años, 65% mujeres. Tras realizar el PSM, quedaron dos grupos de 28 pacientes cada uno. En HA, 5 (18%) pacientes requirieron transfusiones y ninguno en HVL (p = 0,01). Las complicaciones mayores se presentaron en 4 (14%) pacientes en HA, y ninguna en HVL (p = 0,03). Se reoperaron 4 (14%) pacientes con HA y ningún paciente con HVL (p = 0,03). La estadía hospitalaria total fue significativamente mayor en las HA (p = 0,04). No se registraron muertes a los 90 días en ninguno de los dos grupos. Conclusión : la HVL por THB es una técnica segura y eficaz, ya que los pacientes presentaron menor requerimiento transfusional, número de reoperaciones, de complicaciones mayores y de estadía hospitalaria que con HA. Por las ventajas encontradas, la HVL podría ser considerada la técnica de elección en cirugía por THB.
ABSTRACT Background : The advantages of laparoscopic liver resection (LLR) have increased its use for the treatment of benign liver tumors (BLTs). Objective : The aim of this study was to compare the perioperative outcomes of patients undergoing LLR with those operated on with open liver resection (OLR) for BLTs using propensity score matching (PSM). Material and methods : We conducted a descriptive and retrospective study comparing OLRs with LLRs performed between August 2010 and June 2021. The demographic, perioperative, intraoperative and postoperative variables were analyzed. We used PSM with 1:1 matching to avoid biases of the different covariates between the groups. Results : Of 303 liver resections, 82 corresponded to BLTs and were included in the analysis; 36 (44%) were OLRs and 46 (56%) were LLRs. Mean age was 45 ±14 years and 65% were women. After PSM, two groups of 28 patients each were constituted. Five patients (18%) in the OLR group and none in the LLR required transfusions (p = 0.01). Major complications, occurred in 4 (14%) patients in the OLR group and in no cases in the LLR group (p = 0.03). Four (14%) undergoing OLR required reoperation versus no patients with LLR (p = 0.03). Total length of hospital stay was significantly longer in OLR (p = 0.04). There were no deaths in any of the groups within 90 days. Conclusion : LLR for BLTs is a safe and effective technique, with lower requirement for transfusions, fewer reoperations and major complications and shorter length of hospital stay than OLR, Therefore, LLR could be considered the surgical technique of choice for BLTs.
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Los síntomas vasomotores (SVM) se encuentran entre los síntomas más comunes de la transición a la menopausia. Más del 70% de las mujeres de mediana edad informan SVM en algún momento durante la transición a la menopausia, y para un tercio de las mujeres los SVM son muy frecuentes o graves. Muchas mujeres recurren a terapias naturales para tratar los SVM. Esta revisión se centra en una de esas opciones naturales: el extracto purificado de polen (Serelys®). Se realizó una búsqueda e identificación de artículos publicados hasta octubre de 2022 recopilados de sistemas de búsqueda electrónicos, como Google Scholar, MEDLINE, PubMed y Scopus. Las palabras de búsqueda fueron Vasomotor symptoms, menopause AND pollen. Los estudios preclínicos señalan un mecanismo de acción en su implicación sobre el sistema serotoninérgico, así como su unión a los receptores de dopamina. Los estudios clínicos demuestran la seguridad y el efecto positivo sobre los SVM.
Vasomotor symptoms (VMS) are among the most common symptoms of the menopausal transition. More than 70% of middle-aged women report VMS at some point during the menopausal transition, and for a third of women, VMS is very common or severe. Many women turn to natural therapies to treat VMS. This review focuses on one such natural option, purified pollen extract (Serelys®). The information available until October 2022 was collected via the library and electronic search systems such as Google Scholar, MEDLINE, PubMed, and Scopus. The search words were: Vasomotor symptoms, menopause AND pollen. Preclinical studies point to a mechanism of action in its involvement in the serotonergic system, as well as its binding to dopamine receptors. Clinical studies demonstrate the safety and positive effect on VMS.
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Humanos , Feminino , Pólen/química , Menopausa , Extratos Vegetais/administração & dosagem , Segurança , Sistema Vasomotor/fisiopatologia , Eficácia , Fogachos/tratamento farmacológico , FitoterapiaRESUMO
RESUMEN Antecedentes: La cirugía hepática videolaparoscópica ha experimentado un importante desarrollo; sin embargo, la mayoría de las hepatectomías continúan haciéndose por vía convencional. Objetivo: presentar la experiencia y aplicabilidad de hepatectomías videolaparoscópicas. Material y métodos: análisis retrospectivo de pacientes sometidos a una hepatectomía entre agosto de 2010 y diciembre de 2019. Analizamos variables preoperatorias, intraoperatorias y posoperatorias. Para evaluar la aplicabilidad, se dividió la muestra en: Etapa 1: agosto de 2010 a diciembre de 2013; Etapa 2: enero de 2014 a diciembre de 2016, Etapa 3: enero de 2017 a diciembre de 2019. Resultados: de 385 hepatectomías realizadas, 119 fueron videolaparoscópicas: 53 (44%) fueron to talmente laparoscópicas, 64 (54%) mano-asistidas y 2 híbridas. La aplicabilidad global fue 31%. En la etapa 1: 23% , en la 2: 30% y en la 3: 44% (p < 0,05). Fueron patología maligna en la etapa 1: 36%, en la 2: 67% y en la 3: 72% (p < 0,05). Hepatectomías mayores: 13%, 31% y 32% en etapas 1, 2, y 3, respectivamente (p < 0,05). El índice de conversión fue 12%, 0% y 11%, respectivamente (p NS). Se utilizó clampeo pedicular en: 6%, 5% y 45%; (p < 0,05). Las complicaciones en la etapa 1 fueron 30%, en la 2: 28% y en la 3: 17%, siendo complicaciones Dindo-Clavien III o más, el 6%, 13% y 5%, respectivamente, p NS. Conclusiones: Aa pesar de su complejidad, las hepatectomías videolaparoscópicas son técnicamente reproducibles. Adquiriendo experiencia, podemos aumentar la aplicabilidad, a favor de la patología oncológica y complejidad, sin comprometer la seguridad del paciente.
ABSTRACT Background: Despite laparoscopic liver resection has significantly evolved, most hepatectomies are performed by the conventional approach. Objective: The aim of this study is to present the initial experience and applicability of laparoscopic liver resections. Material and methods: We conducted a retrospective analysis of patients undergoing liver resection between August 2010 and December 2019. Perioperative, intraoperative and postoperative variables were analyzed. To evaluate applicability, the sample was divided into 3 stages: stage 1, from August 2010 to December 2013; stage 2, from January 2014 to December 2016; and stage 3, from January 2017 to December 2019. Results: Of 385 liver resections performed, 119 were laparoscopic procedures: 53 (44%) were pure laparoscopic procedures, 64 (54%) were hand-assisted (64 patients) and 2 corresponded to hybrid procedures. Global applicability was 31%. In stage 1 1: 23%, in 2: 30% and in 3: 44% (p < 0.05). Malignant lesions: stage 1: 36%, stage 2: 67% and stage 3: 72% (p < 0.05). Major liver resections: 13%, 31% and 32% in stages 1, 2, and 3, respectively (p < 0.05). Conversion rate was 12%, 0% and 11%, respectively (p NS). Hepatic pedicle clamping was used in 6%, 5% and 45%; (p < 0.05). Complications in stage 1 were 30%, in stage 2: 28% and in stage 3: 17%, and Clavien-Dindo complications grade 3 or greater were 6%, 13% and 5%, respectively, p NS. Conclusions: Laparoscopic liver resections are complex procedures but technically reproducible. Applicability increases with the acquisition of experience, not only in malignant lesions but also in complex lesions ensuring safety for the patient.
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Introduction: The head and neck are frequent sites for the development of cutaneous cancer and squamous cell carcinoma of the skin (SCC), one of the more frequent malignant non-melanoma skin neoplasms in Chile (436 per 100,000 inhabitants). Between 5-10% skin SCC progresses aggressively generating metastasis to parotid and cervical lymph nodes. Case Report: A 82 years old male, presents painful increased volume lesion in the mandibular area. He has a history of chronic arterial hypertension, acute renal failure, SCC of the scalp, extra-pulmonary tuberculosis, chronic sun exposure and smoking. Extraoral examination showed a 4 cm lesion in the posterior third of the mandibular branch, with undefined edges, a firm consistency and painful on palpation. Intraorally, erythematous mucosa is observed, as well as lack of lubrication, tenderness and cortical bone expansion. Incisional biopsy is performed, imaging and histological exams are requested. The results indicate the presence of SCC, and therefore referral to secondary care. Many risk factors are associated with SCC development, with ultraviolet radiation the most relevant in this case, favoring its appearance on the scalp. The probability of metastasis is low, but when it happens, the majority of cases that started in the scalp, disseminate to the parotid and cervical region. Conclusion: The SCC has a good prognosis. However, there are antecedents, such as size and location, that must alert the professional to perform the monitoring, early screening, control of metastatic nodes in maxillofacial area.
Introducción: La cabeza y el cuello son sitios frecuentes de desarrollo de cáncer cutáneo y el carcinoma epidermoide de piel (CEC) es una de las neoplasias malignas sin melanoma más frecuentes en Chile (436 por 100.000 habitantes). Entre el 5% y el 10% del CCE cutáneo progresa de forma agresiva y genera metástasis en los ganglios linfáticos parótidos y cervicales. Reporte de Caso: Varón de 82 años, presenta lesión dolorosa de aumento de volumen en zona mandibular. Tiene antecedentes de hipertensión arterial crónica, insuficiencia renal aguda, CCE del cuero cabelludo, tuberculosis extrapulmonar, exposición crónica al sol y tabaquismo. El examen extraoral mostró una lesión de 4 cm en el tercio posterior de la rama mandibular, con bordes indefinidos, consistencia firme y dolorosa a la palpación. Intraoralmente se observa mucosa eritematosa, así como falta de lubricación, dolor a la palpación y expansión del hueso cortical. Se realiza biopsia incisional, se solicitan exámenes de imagen e histológicos. Los resultados indican la presencia de CCE y, por tanto, derivación a atención secundaria. Son muchos los factores de riesgo asociados al desarrollo de CEC, siendo la radiación ultravioleta la más relevante en este caso, favoreciendo su aparición en el cuero cabelludo. La probabilidad de metástasis es baja, pero cuando ocurre, la mayoría de los casos que comenzaron en el cuero cabelludo se diseminan a la región parotídea y cervical. Conclusión: El SCC tiene un buen pronóstico. Sin embargo, existen antecedentes, como tamaño y ubicación, que deben alertar al profesional para realizar el seguimiento, cribado precoz, control de ganglios metastásicos en zona maxilofacial.
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Humanos , Masculino , Idoso de 80 Anos ou mais , Couro Cabeludo/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Parotídeas/secundário , Carcinoma de Células Escamosas/secundário , Neoplasias de Cabeça e Pescoço/diagnóstico , Neoplasias Bucais , Neoplasias Parotídeas/diagnóstico , Carcinoma de Células Escamosas/diagnóstico , Tomografia Computadorizada por Raios X , Metástase NeoplásicaRESUMO
Inadequate food and nutrition affect human well-being, particularly for many poor subpopulations living in rural areas. The purpose of this research was to analyze the factors that determine the Household Dietary Diversity Score (HDDS) in the rural area of the Paute River Basin, Azuay Province, Ecuador. The sample size of 383 surveys was determined by a stratified random sampling method with proportional affixation. Dietary diversity was measured through the HDDS, with 12 food groups (cereals; roots and tubers; fruits; sugar/honey; meat and eggs; legumes or grains; vegetables; oils/fats; milk and dairy products; meats; miscellaneous; fish and shellfish) over a recall period of 7 days. A Poisson regression model was used to determine the relationship between the HDDS and sociodemographic variables. The results show that the average HDDS of food consumption is 10.89 foods. Of the analyzed food groups, the most consumed are cereals; roots and tubers; fruits; sugar/honey. In addition, the determinants that best explain the HDDS in the predictive model were housing size, household size, per capita food expenditure, area of cultivated land, level of education, and marital status of the head of household. The tools used in this research can be used to analyze food and nutrition security interventions. Furthermore, the results allow policymakers to identify applicable public policies in the fight against hunger.
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Abastecimento de Alimentos , Rios , Animais , Dieta , Equador , Características da Família , Humanos , População RuralRESUMO
In January 2018, eucalyptus trees showing wilt symptoms were identified in a commercial plantation located in the Quevedo Cantón, Los Ríos province, Ecuador. Disease incidence reached 40% of the eucalyptus field and affected plants displayed reddening and wilting of the foliage, leaf drop, branch dieback, and reduced growth, resembling bacterial wilting symptoms (Santiago et al., 2014). Transverse sections made on trunks of wilted trees revealed vascular discoloration of the wood and bacterial ooze. Wood pieces taken from discoloured tissues were surface disinfected and macerated in sterilized distilled water. The resulting suspensions were spread on plates containing triphenyltetrazolium chloride medium (TZC) (Kelman, 1954) and incubated at 28°C for 48 h. Three mucoid white colonies with pinkish centers, characteristic of Ralstonia solanacearum, were purified (Figure S1C). The isolates were Gram negative in the KOH test, non-fluorescent on King's B medium, and formed cream colonies on yeat extract-dextrose-calcium carbonate (YDC) medium. Phylotype-specific multiplex PCR (PMX-PCR) (Fegan and Prior, 2005) and phylogenetic analysis based on partial endoglucanase (egl) gene sequences (Poussier et al. 2000) (Figure S2) identified the isolates as R. solanacearum Phylotype IIB sequevar 51. The isolates were preserved in the COAD culture collection of the Universidade Federal de Vicosa, Brazil (codes COAD 2586, 2587 and 2588) and the corresponding egl DNA sequences were deposited in the GenBank (accession numbers MH350031, MH350032 and MH350033). Pathogenicity tests were conducted with all three isolates. Twenty microliters of bacterial suspensions (108 CFU/mL of saline solution) were injected at the base of the stem of eucalyptus (Eucalyptus urograndis), banana (Musa sp. cv. Maçã) and tomato (Solanum lycopersicum cv. Santa Clara) plants kept in a greenhouse (28 ± 2 °C) (Fonseca et al., 2016). Three plants of each host species were inoculated per bacterial isolate and plants injected with distilled water were used as controls. Necrotic symptoms appeared at the inoculation site on eucalyptus plants after 10 days. Wilt symptoms started at the top and progressed towards the base of the plants (Figure S1A). Tomato plants died within one week, and eucalyptus seedlings died after three weeks. The inoculated banana seedlings and all plants from the control treatments remained asymptomatic. Bacterial ooze was observed on freshly-cut transverse sections made on wilted eucalyptus seedlings (Figure S1B) and typical colonies of R. solanacearum were isolated from inoculated plants, fulfilling Koch's postulates. The correct diagnosis of the pathogen is the first step in the long-term process of developing effective management tools for this disease in Ecuador.
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Knobloch Syndrome (KS) is a rare autosomal recessive hereditary disease. Despite its clinical heterogeneity, it is characterized by vitreoretinal degeneration and high myopia, with or without occipital skull defects. It is caused by mutations in the COL18A1 gene, which codifies for collagen XVIII, present in retina and vascular endothelium. Since the first description of the disease by doctors Knobloch and Layer in 1972, over 100 cases and 20 pathogenic or likely pathogenic mutations have been reported. We present the case of a child born from a consanguineous couple in Chile with congenital high myopia and dysmorphisms without an occipital skull defect. Whole exome sequencing analysis revealed an inherited homozygous variant in COL18A1, c.4224_4225delinsC, p.Pro1411Leufs*35.
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Colágeno Tipo XVIII/genética , Encefalocele/genética , Predisposição Genética para Doença , Degeneração Retiniana/genética , Descolamento Retiniano/congênito , Criança , Encefalocele/complicações , Encefalocele/patologia , Feminino , Humanos , Mutação , Degeneração Retiniana/complicações , Degeneração Retiniana/patologia , Descolamento Retiniano/complicações , Descolamento Retiniano/genética , Descolamento Retiniano/patologia , Sequenciamento do ExomaRESUMO
Background: Inherited ocular conditions are a frequent cause of blindness. Gene therapy has encouraged the development of genetic testing, currently able to detect up to 80% of mutations in contrast to the 5% sensitivity achieved a few decades ago.Materials and methods: One hundred sixty-three patients with suspected genetic ocular disorders who were referred to a single clinician between August 2014 and August 2019 underwent a thorough ophthalmologic examination. Those diagnosed with congenital cataract, retinoblastoma, anterior segment dysgenesis, autoimmune retinal disease, posterior microphthalmia, or cobalamin C deficiency were excluded, along with patients who opted against genetic testing. Included probands were classified into a diagnostic clinical category and offered genetic testing. Blood samples were sent to foreign accredited diagnostic laboratories, followed by clinical interpretation of the results.Results: Of the 163 patients referred, 104 were enrolled in the study. Median age at disease onset was 2 years (range, 0 to 43 years). A molecular diagnosis was established at a median age of 10 years (range, 0.4 to 50 years). Disease-causing genotypes were identified in 82 of the probands, indicating a mutation detection rate of 78.8%. Mutations were identified in 38 genes, ABCA4 being the most commonly affected (23% of mutations), followed by CRB1 (13% of mutations). Whole-exome sequencing was performed in 6 patients, resulting in a definite diagnosis in 3 (50%).Conclusions: Molecular testing for inherited ocular conditions is feasible in developing countries by sending samples to certified foreign laboratories, with a mutation detection rate comparable to published values in developed countries. Further studies to identify more disease-causing genes may improve the overall sensitivity.
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Proteínas do Olho/genética , Testes Genéticos/métodos , Mutação , Doenças Retinianas/genética , Adolescente , Adulto , Criança , Pré-Escolar , Países em Desenvolvimento , Feminino , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Fenótipo , Doenças Retinianas/diagnóstico , Adulto JovemRESUMO
RESUMEN: Las patologías pulpares han sido un verdadero reto para la odontología principalmente por su tratamiento. Actualmente, existen numerosos biomateriales en el mercado que reportan tener propiedades inherentes en los tejidos dentarios. Sin embargo, diferentes estudios sobre múltiples líneas celulares expuestas a estos biomateriales demuestran resultados controversiales como biocompatiblidad y citotoxicidad celular. Biodentine, es un cemento endodóntico en base a silicatos cálcico de múltiples aplicaciones, que prestaría propiedades de biocompatibilidad como bioactividad celular, características que le permitirían incluso ser utilizado en contacto directo con la pulpa dental. El objetivo de este estudio es la evaluación in-vitro de Biodentine, sobre cultivos de células de la pulpa dental humana (CCPDH). Se prepararon discos de cemento de Biodentine™ de 2 x 6 mm, los que se expusieron a cultivos de células aisladas de la pulpa dental humana. Luego de 24, 48 y 72 horas de exposición, se realizaron ensayos de viabilidad celular utilizando el método colorimétrico MTT. También se realizaron ensayos de expresión proteica de dos proteínas involucradas en la vía de señalización de la apoptosis celular: Caspasa - 3 clivada y Poli (ADP-Ribosa) Polimerasa, PARP - 1. Existen diferencias estadísticamente significativas (p<0,05) en los ensayos de viabilidad celular entre las células expuestas a Biodentine y el grupo control, como también a medida que aumenta el tiempo de exposición (p<0,05). Por otra parte, también existen diferencias significativas (p<0,05) en la expresión de PARP- 1 en los grupos sometidos a Biodentine. Los resultados obtenidos en este estudio demuestran que Biodentine genera citotoxicidad celular en cultivos celulares de pulpa dental humana, por disminución de la viabilidad celular como por la expresión de proteínas apoptóticas. Es por esto que la utilización de este biomaterial debería ser estudiado y considerarse en cada caso clínico, especialmente como recubridor pulpar directo.
ABSTRACT: Oral pathologies have been a real challenge for dentistry, mainly due to its treatment. Currently, there are numerous biomaterials on the market that may present inherent properties in dental tissues. However, studies on multiple cell lines are based on biocompatible results such as biocompatibility and cellular cytotoxicity. Biodentine is endodontic cement based on calcium silicates of multiple applications, which would provide biocompatibility properties as cellular bioactivity, characteristics that will allow it to be used in direct contact with the dental pulp. The objective of this study is the in vitro evaluation of Biodentine, on cultures of cells of the human dental pulp (HDPC). Biodentine cement disks of 2 x 6 mm were prepared, and HDPC culture plates were introduced. After 24, 48 and 72 hours of exposure, cell viability tests were performed using the MTT colorimetric method. On the other hand, protein expression assays of two proteins involved in the signaling pathway of cell apoptosis Caspase-3 cleaved (cas-3 clv) and PARP-1 are carried out. There are statistically significant differences (p <0,05) in the cell viability tests between Biodentine and control group, as well as the exposure time increases (p <0,05). Otherwise, there are also significant differences (p <0,05) in the expression of PARP-1 in the groups, sometimes a Biodentine. The results in this study that Biodentine generates a cellular cytotoxicity in HDPC cultures, therefore, cell viability as the expression of apoptotic proteins. This is why the use of this biomaterial should be studied for each particular clinical case, especially as a direct pulp capping agent.
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Humanos , Apoptose , Compostos de Cálcio/química , Caspase 3/análise , Poli(ADP-Ribose) Polimerase-1 , Células-Tronco/fisiologia , Técnicas In Vitro , Sobrevivência Celular , Silicatos/química , Polpa Dentária/anatomia & histologia , Dentina/patologia , Citotoxicidade Celular Dependente de AnticorposRESUMO
BACKGROUND: Corneal Dystrophy and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss, which usually begins after the second decades of life. This study reports the ophthalmic, audiological and genetic features, in five CDPD affected patients from three Chilean families. MATERIALS AND METHODS: Five individuals affected with CDPD from three unrelated Chilean families were clinically and genetically examined. To evaluate a putative founder mutation 7 SNPs were analyzed in the three families, an Argentinian patient (carrier of the same mutation previously reported) and 87 Chilean controls. RESULTS: The ophthalmic symptoms in the five patients were bilateral and symmetric, starting before one year of age, and visual acuity varied from 0.1 to 0.3. In all cases, hearing loss began over 8 years old. The sequence of the 19 exons of SLC4A11 gene of all the affected patients exhibited homozygous eight nucleotide sequence duplication (c.2233_2240dup TATGACAC, p.(Ile748Metfs*5)) at the end of exon 16. All the affected patients of the three families were homozygous for a haplotype composed of five SNPs and covering 4,1 Mb. The same haplotype was present in one allele of the heterozygous Argentinean patient and has a frequency of 2.76% in Chilean population. CONCLUSIONS: The five CDPD patients were homozygous for the same mutation in the SLC4A11 gene. Haplotype analysis of all the affected, including the case reported from Argentina was in accordance with a founder mutation.
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Proteínas de Transporte de Ânions/genética , Antiporters/genética , Distrofias Hereditárias da Córnea/diagnóstico , Distrofias Hereditárias da Córnea/genética , Efeito Fundador , Duplicação Gênica/genética , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Idoso , Audiometria , Pareamento de Bases , Criança , Consanguinidade , Análise Mutacional de DNA , Éxons/genética , Feminino , Haplótipos , Heterozigoto , Homozigoto , Humanos , Masculino , Linhagem , Acuidade Visual/fisiologia , Adulto JovemRESUMO
PURPOSE: This retrospective, observational study was designed to evaluate the effectiveness of the sampling methods commonly used for the collection of corneal scrapes for the diagnosis of Acanthamoeba keratitis (AK) by culture, in terms of their ability to provide a positive result. METHODS: A total of 553 samples from 380 patients with suspected AK received at the Parasitology Section of the Public Health Institute of Chile, between January 2005 and December 2015, were evaluated. A logistic regression model was used to determine the correlation between the culture outcome (positive or negative) and the method for sample collection. The year of sample collection was also included in the analysis as a confounding variable. RESULTS: Three hundred and sixty-five samples (27%) from 122 patients (32.1%) were positive by culture. The distribution of sample types was as follows: 142 corneal scrapes collected using a modified bezel needle (a novel method developed by a team of Chilean corneologists), 176 corneal scrapes obtained using a scalpel, 50 corneal biopsies, 30 corneal swabs, and 155 non-biological materials including contact lens and its paraphernalia. Biopsy provided the highest likelihood ratio for a positive result by culture (1.89), followed by non-biological materials (1.10) and corneal scrapes obtained using a modified needle (1.00). The lowest likelihood ratio was estimated for corneal scrapes obtained using a scalpel (0.88) and cotton swabs (0.78). CONCLUSION: Apart from biopsy, optimum corneal samples for the improved diagnosis of AK can be obtained using a modified bezel needle instead of a scalpel, while cotton swabs are not recommended.
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Ceratite por Acanthamoeba/diagnóstico , Acanthamoeba/isolamento & purificação , Córnea/parasitologia , Infecções Oculares Parasitárias/diagnóstico , Acanthamoeba/genética , Córnea/patologia , DNA de Protozoário/análise , Feminino , Humanos , Masculino , Microscopia Confocal , Reação em Cadeia da Polimerase/métodos , Estudos RetrospectivosRESUMO
INTRODUCTION: Cardiovascular disease is the main cause of mortality worldwide. In women, its incidence increases at the sixth decade of life, coinciding with postmenopause. Whether this effect is due to menopause-related hormonal changes is not known. OBJECTIVE: To evaluate the differences in cardiovascular risk in pre- and postmenopausal women by means of the Globorisk risk scale, the triglyceride/high-density lipoproteinsHDL cholesterol (Tg/HDL-C) ratio and metabolic syndrome (MS) criteria. METHOD: Cross-sectional study that included 408 women from 40 to 60 years of age; anthropometric measurements and biochemical determinations were performed. The participants were classified as premenopausal and postmenopausal. Cardiovascular risk was assessed using the MS criteria, the Globorisk risk calculator and the Tg/HDL-C ratio. RESULTS: Postmenopausal women showed a significant increase in waist circumference, total cholesterol and triglycerides Tg in comparison with premenopausal women. Significant associations were found between hormonal state and Globorisk-measured cardiovascular risk (OR = 2.50; 95 % CI = 1.67-3.74) and the Tgtriglyceride/HDL-C ratio (OR = 1.66; 95 % CI = 1.09-2.52). CONCLUSION: Cardiovascular risk factors have a higher prevalence in postmenopause. The Globorisk scale and Tg/HDL-C ratio identify cardiovascular risk in postmenopausal women.
INTRODUCCIÓN: La laringectomía subtotal supracricoidea asociada con cricohioidoepiglotopexia es la técnica quirúrgica conservadora más eficiente para preservar las funciones laríngeas de los pacientes con carcinoma localmente avanzado de la laringe. La complicación más temida de esta intervención es la aspiración en el momento de la deglución y la neumonía secundaria; existen diversas formas de evaluar la aspiración y el grado de esta. Presentamos una novedosa forma de identificar incluso pequeñas cantidades de aspiración traqueobronquial. MÉTODO: Se incluyeron pacientes sometidos a laringectomía subtotal y cricohioidoepiglotopexia por cáncer laríngeo; todos evaluados con trago radiactivo posoperatorio. Con base en la sintomatología y resultado del gammagramma se decidió prolongar el tiempo de alimentación por sonda. RESULTADOS: Se incluyeron 37 pacientes, cuatro habían recibido radioterapia; la tasa de aspiración fue de 29.7 %; 50 % de los pacientes que habían recibido radioterapia presentó aspiración y 18 % de los pacientes con aspiración requirió prolongación del tiempo de alimentación por sonda nasogástrica; ninguno necesitó laringectomía total por aspiración que no permitiera la deglución. CONCLUSIONES: La evaluación posoperatoria de pacientes sometidos a laringectomía subtotal con trago radiactivo permite identificar líquido aspirado al árbol bronquial, incluso en cantidades mínimas, y planear el momento para iniciar la deglución.
Assuntos
Carcinoma de Células Escamosas/cirurgia , Deglutição/fisiologia , Neoplasias Laríngeas/cirurgia , Laringectomia/métodos , Aspiração Respiratória/etiologia , Carcinoma de Células Escamosas/patologia , Cartilagem Cricoide/cirurgia , Transtornos de Deglutição/epidemiologia , Transtornos de Deglutição/etiologia , Epiglote/cirurgia , Humanos , Osso Hioide/cirurgia , Neoplasias Laríngeas/patologia , Aspiração Respiratória/epidemiologiaRESUMO
Introduction: In Head and Neck (HN) cancer, the High-Risk Human Papillomavirus (hr HPV) infection has been associated in about 40% of these tumors. The hr HPV infection is one of the etiological factors of several epithelial tumors; however, its association with the prognosis has not yet been established for patients with Laryngeal Squamous Cell Carcinoma (LSCC). On the other hand, Epidermal Growth Factor Receptor (EGFR) is a molecular marker widely studied in cancer and its overexpression has been associated with poor prognosis in some types of cancer, including the HN cancer. In the present study, we analyzed EGFR expression and HPV detection in a cohort of Mexican patients with LSCC and define their association with clinical-pathological and survival parameters. Methods: EGFR expression analysis was performed by immunohistochemistry assay. A tissue array was constructed based on 30 paraffin-embedded tissue samples. HPV detection was performed by PCR. The results were then compared with the clinical-pathological variables and outcome measures (Kaplan Meier and Cox analysis). Results: High expression of EGFR was observed in 43% of the samples and 20% of HPV detection. The statistical analyses provided evidence of disassociation between clinical-pathological parameters and EGFR expression, but there was an association with poor prognosis. Interestingly, HPV detection is slightly associated with good prognosis. Conclusion: Both, EGFR overexpression and HPV presence could be associated with an unfavorable prognosis in patients with LSCC, independently of other clinical-pathological factors.
Assuntos
Carcinoma de Células Escamosas/mortalidade , Neoplasias Laríngeas/mortalidade , Infecções por Papillomavirus/mortalidade , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/virologia , DNA Viral/genética , Receptores ErbB/metabolismo , Feminino , Seguimentos , Humanos , Neoplasias Laríngeas/patologia , Neoplasias Laríngeas/virologia , Masculino , México , Pessoa de Meia-Idade , Papillomaviridae/genética , Papillomaviridae/isolamento & purificação , Infecções por Papillomavirus/patologia , Infecções por Papillomavirus/virologia , Prognóstico , Taxa de SobrevidaRESUMO
La miocardiopatía dilatada es la principal causa de insuficiencia cardíaca que lleva a trasplante cardíaco. Su pronóstico es variable y depende de la etiología, la edad de presentación y el grado de insuficiencia cardíaca. El manejo está orientado a minimizar los síntomas y evitar la progresión de la enfermedad; se requiere de una evaluación integral en la pesquisa de comorbilidades y prevención de complicaciones que permitan mejorar la condición general de estos niños y atenuar su pronóstico. A continuación, se realiza una revisión orientada al manejo multidisciplinario que el pediatra debería considerar a la hora de enfrentarse a este tipo de pacientes.
Dilated cardiomyopathy is the main cause of heart failure leading to heart transplant. Its prognosis is variable and depends on the etiology, the patient's age at onset, and the severity. The management of dilated cardiomyopathy is aimed at minimizing symptoms and preventing disease progression; it requires a comprehensive screening for comorbidities and the prevention of complications to improve the overall status of these children and mitigate their prognosis. Here we present a review oriented at the multidisciplinary management that pediatricians should consider when seeing these patients.
Assuntos
Humanos , Criança , Cardiomiopatia Dilatada/complicações , Insuficiência Cardíaca/etiologia , Prognóstico , Índice de Gravidade de Doença , Cardiomiopatia Dilatada/fisiopatologia , Cardiomiopatia Dilatada/terapia , Programas de Rastreamento/métodos , Transplante de Coração/métodos , Idade de Início , Progressão da Doença , Pediatras , Insuficiência Cardíaca/fisiopatologia , Insuficiência Cardíaca/terapiaRESUMO
Introducción: Las infecciones por gram negativos adquiridas en el hospital son una causa importante de muerte, Klebsiella pneumoniae es una de las bacterias más significativas, está además relacionada con la aparición de nuevos mecanismos de resistencia antibiótica. Los carbapenémicos han permitido combatir ciertas de estas cepas resistentes, sin embargo, la aparición de algunas con resistencia a estos antibióticos representa un reto terapéutico. A partir de este contexto clínico se planteó establecer la prevalencia de factores de riesgo en pacientes adultos con aislamientos de Klebsiella pneumoniae resistente a carbapenémicos. Material y métodos: Se realizó un estudio descriptivo retrospectivo en el Hospital Universitario Clínica San Rafael de Bogotá (Colombia). Selección de pacientes: A partir de 295 historias clínicas revisadas de pacientes hospitalizados con aislamiento positivo para Klebsiella pneumoniae con perfil de resistencia a carbapenémicos confirmada en el periodo enero 2013 a diciembre 2015, se obtuvieron 84 pacientes que cumplían todos los criterios de inclusión. Mediciones: Se tuvieron en cuenta variables demográficas como sexo y edad, así como las diferentes condiciones probablemente asociadas a la condición infecciosa. Métodos analíticos: A las variables cualitativas se les calcularon frecuencias absolutas y relativas, y a las variables cuantitativas medidas de tendencia central y de dispersión. Resultados: De 84 pacientes, el 55% correspondía a sexo femenino, tenían una edad media de 66 años. El aislamiento microbiológico en orina fue del 30.4%, en sangre 24.3%, liquido peritoneal 20.7% y secreción traqueal 12.1%. El 91,6% de la población tenía hospitalización en los últimos 3 meses, 86.5% recibió tratamiento antibiótico durante la hospitalización, de estos el 59.1% fue Meropenem, el 26,2% fue Ampicilina Sulbactam, el 23,9% fue Vancomicina, el 18,3% fue Piperacilina Tazobactam. El 54,7%se sometió a algún procedimiento quirúrgico 3 meses antes del aislamiento, de los cuales el 47.8% correspondía a cirugías abdominales y el 13,1% a cirugía de tórax, luego aparecían cirugía ortopédica, en sistema nervioso central y ginecológica. El 70% de los casos tenían antecedente de implante de dispositivos intravasculares, 45,2% exposición a ventilación mecánica, 24% uso de nutrición parenteral. Conclusiones: Este estudio establece las bases para proponer nuevos estudios que planteen estrategias de prevención con el objetivo de lograr disminuir las probabilidades de adquirir esta infección multirresistente.
Introduction: Gram-negative infections acquired in the hospital are an important cause of death, Klebsiella pneumoniae is one of the most significant bacteria, it is also related to the appearance of new mechanisms of antibiotic resistance. The carbapenems have allowed to fight certain of these resistant strains, however, the appearance of some with resistance to these antibiotics represents a therapeutic challenge. From this clinical context, it was proposed this research, to establish the prevalence of risk factors in adult patients with isolates of Klebsiella pneumoniae resistant to carbapenems. Material and methods: A retrospective descriptive study was carried out in the San Rafael Clinical University Hospital of Bogotá (Colombia). Selection of patients: From 295 reviewed clinical records of patients hospitalized with positive isolation for Klebsiella pneumoniae with carbapenemic resistance profile confirmed, in the period January 2013 to December 2015, 84 patients were obtained who fulfilled all the inclusion criteria. Measurements: Demographic variables such as sex and age were taken into account, as well as the different conditions probably associated with the infectious condition. Analytical methods: Qualitative variables were calculated absolute and relative frequencies, and quantitative variables measures of central tendency and dispersion were calculated. Results: Of 84 patients, 55% corresponded to females, had a mean age of 66 years. The microbiological isolation in urine was 30.4%, in blood 24.3%, peritoneal fluid 20.7% and tracheal secretion 12.1%. 91.6% of the population had hospitalization in the last 3 months, 86.5% received antibiotic treatment during hospitalization, of these 59.1% was Meropenem, 26.2% was Ampicillin Sulbactam, 23.9% was Vancomycin, 18.3% was Piperacillin Tazobactam. 54.7% underwent some surgical procedure 3 months before the isolation, of which 47.8% corresponded to abdominal surgeries and 13.1% to thoracic surgery, then they appeared orthopedic surgery, in central nervous system and gynecological. 70% of the cases had antecedents of implantation of intravascular devices, 45.2% exposure to mechanical ventilation, 24% use of parenteral nutrition. Conclusions: This research establishes the bases to propose new researches that propose prevention strategies with the objective of reducing the chances of acquiring this multiresistant infection.
Assuntos
Klebsiella pneumoniae/patogenicidade , Carbapenêmicos , Farmacorresistência Bacteriana , AntibacterianosRESUMO
Grafts from split livers (SLs) constitute an accepted approach to expand the donor pool. Over the last 5 years, most Argentinean centers have shown significant interest in increasing the use of this technique. The purpose of this article is to describe and analyze the outcomes of right-side grafts (RSGs) and left-side grafts (LSGs) from a multicenter study. The multicenter retrospective study included data from 111 recipients of SL grafts from between January 1, 2009 and December 31, 2013. Incidence of surgical complications, patient and graft survival, and factors that affected RSG and LSG survival were analyzed. Grafts types were 57 LSG and 54 RSG. Median follow-up times for LSG and RSG were 46 and 42 months, respectively. The 36-month patient and graft survivals for LSG were 83% and 79%, respectively, and for RSG were 78% and 69%, respectively. Retransplantation rates for LSG and RSG were 3.5% and 11%, respectively. Arterial complications were the most common cause of early retransplantation (less than 12 months). Cold ischemia time (CIT) longer than 10 hours and the use of high-risk donors (age ≥ 40 years or body mass index ≥ 30 kg/m2 or ≥ 5 days intensive care unit stay) were independent factors for diminished graft survival in RSG. None of the analyzed variables were associated with worse graft survival in LSG. Biliary complications were the most frequent complications in both groups (57% in LSG and 33% in RSG). Partial grafts obtained from liver splitting are an excellent option for patients in need of liver transplantation and have the potential to alleviate the organ shortage. Adequate donor selection and reducing CIT are crucial for optimizing results.
Assuntos
Transplante de Fígado/mortalidade , Complicações Pós-Operatórias/epidemiologia , Adolescente , Adulto , Idoso , Argentina/epidemiologia , Criança , Feminino , Sobrevivência de Enxerto , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
BACKGROUND: The standard of care for advanced-stage laryngeal cancer is combined treatment (chemo-radiotherapy). However, the complications with this treatment are not few, mainly in swallowing. Conservative laryngeal surgery remains an effective alternative for cancer control without the complications of chemo-radiotherapy. MATERIAL AND METHODS: Retrospective study was conducted on patients with laryngeal cancer cT3, cN0 with paraglottic infiltration, fixation of the vocal cord, minimal invasion of the hyo-thyroepiglottic space, but with normal arytenoid mobility and no sub-glottic extension, were treated with subtotal supracricoid laryngectomy. Complications, sequels of treatment, and local recurrence were evaluated. Bronchial aspiration was studied with radioactive swallow. RESULTS: There were 25 patients, 22 with negative surgical margins, one had tumour contact with the surgical margins, and 2 were positive. Two patients received postoperative radiotherapy. The mean decannulation was 15 days and removal of nasogastric tube 25 days. During the mean follow-up of 26 months, none of the patients had tumour recurrence or required conversion to total laryngectomy. In all patients swallowing has been normal and none required permanent or temporary tracheotomy or definitive gastrostomy. The voice is considered intelligible in all patients. Radioactive swallow showed aspiration in 15/25 patients, with none being clinically relevant. There were postoperative complications in 5 patients, and 4 patients required re-intervention but no conversion to total laryngectomy. CONCLUSION: Conservative surgery is an effective surgical-alternative to chemo-radiotherapy in patients with locally advanced laryngeal cancer, providing oncological control, acceptable complications and minimal sequels. Although most patients have aspiration, this does not affect functional status.
Assuntos
Neoplasias Laríngeas/cirurgia , Laringectomia/métodos , Idoso , Idoso de 80 Anos ou mais , Terapia Combinada , Estudos Transversais , Feminino , Humanos , Neoplasias Laríngeas/tratamento farmacológico , Neoplasias Laríngeas/radioterapia , Masculino , Pessoa de Meia-Idade , Tratamentos com Preservação do Órgão , Estudos RetrospectivosRESUMO
In 2010, in a cancer genes census, 291 genes were enumerated. These represent near to the 1 % of the total genes, for which there is enough biological evidence that they belong to a new genes classification, known as the cancer genes. These have been defined as the causal genes for sporadic or familiar cancer, when they mutate. The mutation types for these genes includes amplifications, point mutations, deletions, genomic rearranges, amongst others, which lead to a protein over-expression, muting, production of chimeric proteins or a de novo expression. In conjunction these genomic alterations or those of the genetic expression, when they affect specific genes which contribute to the development of cancer, are denominated as cancer genes. It is possible that the list of these alterations will grow longer due to new strategies being developed, for example, the genomic analysis.
En el año 2010, en un censo de genes del cáncer, se enumeraron 291 genes humanos que representan cerca del 1 % de los genes totales, para los cuales existe suficiente evidencia biológica de que pertenecen a una nueva clasificación de genes: los genes del cáncer. Estos se han definido como los genes causales de cáncer esporádico o cáncer familiar, cuando mutan. El tipo de mutaciones para estos genes del cáncer incluye las amplificaciones, las mutaciones puntuales, las deleciones, los rearreglos genómicos, entre otros, los cuales conducen a una sobreexpresión proteica, silenciamiento, producción de proteínas quiméricas o una expresión de novo. Cuando afectan genes específicos que contribuyen al desarrollo de un cáncer, estas alteraciones genómicas o de la expresión génica son denominadas en conjunto como genes del cáncer. Es posible que esta lista crezca más debido a las nuevas estrategias que se están desarrollando, como, por ejemplo, las de análisis genómico.
Assuntos
Regulação Neoplásica da Expressão Gênica , Genes Neoplásicos , Mutação , Neoplasias/genética , Genômica , HumanosRESUMO
Los carcinomas de mama representan un grupo heterogéneo de tumores tanto en comportamiento clínico como en pronóstico, estableciéndose su diversidad a nivel molecular al expresar distintos genes que le confieren variabilidad biológica.Objetivos: Clasificar los carcinomas de mama en subtipos moleculares mediante marcadores inmunohistoquímicos y analizar las características clinicopatológicas.Material y método: Se analizaron retrospectivamente 303 pacientes con diagnóstico de cáncer de mama invasivo derivadas a la Unidad Integral De Oncología Gral. Roca (Río Negro), entre los años 2008-2013. Las pacientes se clasificaron en cuatro subtipos tumorales: Luminal A, Luminal B HER2 Positivo, Triple Negativo y HER2. Resultados: La distribución por inmunofenotipos fue: Luminal A: 72,93%, Luminal B HER2 Positivo: 9,57%, Triple Negativo: 12,22% y HER2: 5,28 %. Los carcinomas Luminal A expresaron tumores más pequeños, diferenciados, con ganglios axilares negativos y estadio precoz de la enfermedad respecto de los subtipos Luminal B HER2 Positivo, Triple Negativo y HER2. Conclusiones: La clasificación del cáncer de mama basada en parámetros inmunohistoquímicos permite una mejor definición pronóstica. Los tumores Luminal A presentaron características clinicopatológicas más favorables que los inmunofenotipos Luminales B HER2 Positivos, Triple Negativo y HER2...