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1.
Int. j. odontostomatol. (Print) ; 17(2): 186-195, jun. 2023. ilus
Article in Spanish | LILACS | ID: biblio-1440357

ABSTRACT

Establecer un protocolo de cirugía guiada estática con técnicas referenciales para ser realizado de manera predecible, repetible y simple, en todos los tipos de casos. El protocolo abreviado guiado digital para cirugía guiada estática para implantes se centra en diseñar computacionalmente una guía quirúrgica que se apoye en el tejido remanente del paciente, siendo un protocolo digital versátil para la cirugía y rehabilitación implanto protésica, basada en registros clínicos, principalmente la línea de la sonrisa y la captación de ésta en tomografía de haz cónico (CBCT), además de establecer dimensión vertical oclusal (DVO). Logrando así, planificación de implantes hasta la inserción inmediata de la prótesis temporal. Se ejemplifica el trabajo con 2 casos clínicos. Se establece un protocolo con la intención de que pueda ser realizado en pacientes desdentados parciales (Técnica de Registro Silicona) o totales (Técnica de Marcadores Tisulares en prótesis), definiendo un flujo de trabajo tridimensional, digital y optimizado, con un consecuente ahorro de tiempo clínico. Como principio del protocolo de cirugía guiada es lograr el objetivo quirúrgico - protésico deseado con alta precisión. La cirugía y rehabilitación de implantes de manera convencional es altamente dependiente del operador por lo que la alternativa de cirugía guiada de manera estática es una herramienta más para mejorar el pronóstico del paciente. Se establece un protocolo digital simple y efectivo, de cirugía guiada, para la rehabilitación implanto protésica basada en la línea de la sonrisa, tomografía de haz cónico (CBCT), dimensión vertical oclusal (DVO). Protocolo predecible y que optimiza los tiempos clínicos, logrando una rehabilitación protésica inmediata acorde e individualizada para cada paciente.


Establish a static guided surgery protocol with referential techniques to be performed in a predictable, repeatable and simple way, in all types of cases. The abbreviated digital guided protocol for static guided surgery for implants focuses on computationally designing a surgical guide that rests on the patient's remaining tissue, being a versatile digital protocol for prosthetic implant surgery and rehabilitation, based on clinical records, mainly the line of the smile and its uptake in cone beam tomography (CBCT), in addition to establishing occlusal vertical dimension (OVD). Thus achieving implant planning until the immediate insertion of the temporary prosthesis. The work is exemplified with 2 clinical cases. A protocol is established with the intention that it can be carried out in partially edentulous patients (Silicone Registration Technique) or total (Tissue Marker Technique in prostheses), defining a three-dimensional, digital and optimized workflow, with a consequent saving of time. clinical. As a principle of the guided surgery protocol, it is to achieve the desired surgical-prosthetic objective with high precision. Conventional implant surgery and rehabilitation is highly dependent on the operator, so the alternative of statically guided surgery is one more tool to improve the patient's prognosis. A simple and effective digital protocol for guided surgery is established for prosthetic implant rehabilitation based on the smile line, cone beam tomography (CBCT), and occlusal vertical dimension (OVD). Predictable protocol that optimizes clinical times, achieving an immediate and individualized prosthetic rehabilitation for each patient.


Subject(s)
Humans , Male , Female , Aged , Dental Implants , Clinical Protocols , Surgery, Computer-Assisted/methods , Smiling , Denture Design , Cone-Beam Computed Tomography
2.
Biol. Res ; 53: 15, 2020. tab, graf
Article in English | LILACS | ID: biblio-1100921

ABSTRACT

BACKGROUND: Current South American populations trace their origins mainly to three continental ancestries, i.e. European, Amerindian and African. Individual variation in relative proportions of each of these ancestries may be confounded with socio-economic factors due to population stratification. Therefore, ancestry is a potential confounder variable that should be considered in epidemiologic studies and in public health plans. However, there are few studies that have assessed the ancestry of the current admixed Chilean population. This is partly due to the high cost of genome-scale technologies commonly used to estimate ancestry. In this study we have designed a small panel of SNPs to accurately assess ancestry in the largest sampling to date of the Chilean mestizo population (n = 3349) from eight cities. Our panel is also able to distinguish between the two main Amerindian components of Chileans: Aymara from the north and Mapuche from the south. RESULTS: A panel of 150 ancestry-informative markers (AIMs) of SNP type was selected to maximize ancestry informativeness and genome coverage. Of these, 147 were successfully genotyped by KASPar assays in 2843 samples, with an average missing rate of 0.012, and a 0.95 concordance with microarray data. The ancestries estimated with the panel of AIMs had relative high correlations (0.88 for European, 0.91 for Amerindian, 0.70 for Aymara, and 0.68 for Mapuche components) with those obtained with AXIOM LAT1 array. The country's average ancestry was 0.53 ± 0.14 European, 0.04 ± 0.04 African, and 0.42 ± 0.14 Amerindian, disaggregated into 0.18 ± 0.15 Aymara and 0.25 ± 0.13 Mapuche. However, Mapuche ancestry was highest in the south (40.03%) and Aymara in the north (35.61%) as expected from the historical location of these ethnic groups. We make our results available through an online app and demonstrate how it can be used to adjust for ancestry when testing association between incidence of a disease and nongenetic risk factors. CONCLUSIONS: We have conducted the most extensive sampling, across many different cities, of current Chilean population. Ancestry varied significantly by latitude and human development. The panel of AIMs is available to the community for estimating ancestry at low cost in Chileans and other populations with similar ancestry.


Subject(s)
Humans , Male , Female , Ethnicity/genetics , Indians, South American/genetics , Polymorphism, Single Nucleotide/genetics , Population Groups/genetics , Genetics, Population/organization & administration , Saliva , Genetic Markers/genetics , Chile , Phylogeography , Genotyping Techniques , Gene Frequency/genetics , Genotype
3.
Rev. chil. neuro-psiquiatr ; 57(4): 394-404, dic. 2019. tab
Article in Spanish | LILACS | ID: biblio-1092736

ABSTRACT

Resumen La esquizofrenia (EQZ) es una entidad clínica altamente heterogénea. Determina un severo impacto en la calidad de vida de los pacientes y un alto costo para la sociedad. Los antipsicóticos son la primera línea de tratamiento, sin embargo, hasta un tercio de los pacientes presentaran una esquizofrenia resistente a tratamiento (ERT). Se ha propuesto que la ERT podría corresponder a un grupo neurobiológicamente distinto de la enfermedad con una arquitectura genética particular y no solo al extremo del espectro de severidad de la misma. A pesar de ello, actualmente no existe consenso en la literatura en torno a la definición de ERT. En este trabajo presentamos una revisión de diferentes definiciones de ERT centrándonos principalmente en las guías clínicas publicadas. Además se discuten las alternativas terapéuticas en ERT y, finalmente, se proponen perspectivas futuras en torno a la necesidad de desarrollar predictores de respuesta a antipsicóticos de primera y segunda línea, así como también la posibilidad de comprender la neurobiología de la ERT.


Schizophrenia (SZ) is a highly heterogeneous clinical entity. It causes a severe disruption in quality of life, and it imposes a significant burden to society. Antipsychotics are the first line treatment, however up to a 30% of the patients will present resistance to treatment. Treatment resistant schizophrenia (TRS) could be a neurobiologically distinct disorder and not merely an extremely severe form of SZ. However, there is no consensus in the literature as to the definition of TRS. In the present work we review different definitions of TRS, mainly from clinical guidelines. Furthermore, we discuss therapeutic alternatives for TRS and suggest future perspectives regarding the identification of response predictors and understanding the neurobiology of TRS.


Subject(s)
Humans , Quality of Life , Schizophrenia , Therapeutics , Antipsychotic Agents
4.
Med. U.P.B ; 38(1): 27-32, 13 de febrero de 2019. tab, Ilus
Article in Spanish | LILACS, COLNAL | ID: biblio-980295

ABSTRACT

Objetivo: la microcirugía laríngea es un procedimiento terapéutico en lesiones benignas de laringe, diagnóstico en pacientes con disfonías de evolución variable y en casos de sospecha de malignidad. El objetivo de este estudio es describir las características de los pacientes intervenidos por microcirugía laríngea y las lesiones observadas en un servicio de otorrinolaringología en Argentina. Metodología: estudio retrospectivo. Se realizó la revisión de protocolos quirúrgicos, historias clínicas, videoestroboscopias computarizadas y documentos de anatomía patológica. Análisis univariado descriptivo con utilización de la t de Student o la Chi- cuadrado, según las características de las variables (p <0.005 para significancia estadística). Resultados: el sexo masculino fue el más intervenido, con una edad media de 51.2 ± 6.6 años. El antecedente de tabaquismo fue el más frecuente. Las principales lesiones macroscópicas fueron premalignas y malignas, pólipos y quistes. En la anatomía patológica se encontraron pólipos, carcinomas y quistes. En ambos sexos la lesión más frecuente fue el pólipo (33% vs. 45%, p =0.03). En pacientes con antecedente de tabaquismo la lesión más común fue pólipo, en ambos géneros, en menores de 60 años (46% vs. 30%, p =0.02), mientras en mayores de 60 años fue el carcinoma (33% vs. 15%, p <0.001). Conclusiones: en población masculina en sexta década de la vida se encontró principalmente presencia de pólipos, quistes y carcinomas. En pacientes de este género, con antecedente de tabaquismo, se describe mayor presencia de carcinomas.


Objective: Laryngeal microsurgery is a procedure indicated in benign laryngeal lesions; it is also a diagnostic tool in patients with dysphonia or in cases where malignancy is suspected. Methodology: Retrospective study in which clinical records, surgical protocols, videoestroboscopies, and pathology documents of patients under laryngeal microsurgery between 2011 and 2016 were reviewed. Univariate analysis was performed using Chi squared test (p <0.05). Results: Mean age was 51.2 ± 6.6 years, males were the most frequently intervened. Smoking was the most common comorbidity. The main macroscopic lesions observed were premalignant and malignant, polyps and cysts; in the pathology, polyps, carcinomas, and cysts were found. Polyps were the most frequent lesions found in both genders (33% vs 45%, p = 0.03). In patients with a smoking comorbidity, polyps were the most common lesion in both women and men (46% vs. 30%, p = 0.02). A greater presence of carcinomas was described in males over 60 with a history of smoking (33% vs 15%, p = 0.0001). Conclusions: Polyps, cysts, and carcinomas were mainly found in males over 60. A greater presence of carcinomas was described in male patients with a history of smoking.


Objetivo: a microcirurgia laríngea é um procedimento terapêutico em lesões benignas de laringe, diagnóstico em pacientes com disfonias de evolução variável e em casos de suspeita de malignidade. O objetivo deste estudo é descrever as características dos pacientes intervindos por microcirurgia laríngea e as lesões observadas num serviço de otorrinolaringologia na Argentina. Metodologia: estudo retrospectivo. Se realizou a revisão de protocolos cirúrgicos, histórias clínicas, videoestroboscopias computorizadas e documentos de anatomia patológica. Análise univariado descritivo com utilização da t de Student ou a Chi- quadrado, segundo as características das variáveis (p <0.005 para significância estatística). Resultados: o sexo masculino foi o mais intervindo, com uma idade média de 51.2 ± 6.6 anos. O antecedente de tabaquismo foi o mais frequente. As principais lesões macroscópicas foram pré-malignas e malignas, pólipos e quistos. Na anatomia patológica se encontraram pólipos, carcinomas e quistos. Em ambos sexos a lesão mais frequente foi o pólipo (33% vs. 45%, p =0.03). Em pacientes com antecedente de tabaquismo a lesão mais comum foi pólipo, em ambos gêneros, em menores de 60 anos (46% vs. 30%, p =0.02), enquanto em maiores de 60 anos foi o carcinoma (33% vs. 15%, p <0.001). Conclusões: na população masculina na sexta década da vida se encontrou principalmente presença de pólipos, quistos e carcinomas. Em pacientes deste gênero, com antecedente de tabaquismo, se descreve maior presença de carcinomas.


Subject(s)
Humans , Larynx , Otolaryngology , Polyps , Tobacco Use Disorder , Carcinoma , Smoking , Cysts , Dysphonia , Microsurgery
5.
Rev. chil. urol ; 79(4): 71-74, 2014. ilus
Article in Spanish | LILACS | ID: lil-785420

ABSTRACT

El angiomiolipoma (AML) renal es un tumor sólido compuesto por células de músculo liso, vasos sanguíneos dismórfi cos y tejido adiposo. Esta lesión ha sido considerada siempre como una neoplasia benigna. Reportamos a una paciente de 44 años, asintomática, con una lesión sugerente de AML mayor a 4 cm en el TAC que fue sometida a nefrectomía parcial abierta. La biopsia definitiva informó un angiomiolipoma con componente epiteloídeo focal (AMLE). Controles de imágenes posteriores de esta paciente no han evidenciado recidivia. El angiomiolipoma epiteloídeo (AMLE) es una variante descrita en los últimos años y que sugiere un cambio en el paradigma clásico de “benignidad” asociada al AML Las guías para el manejo de los AML no toman en cuenta la posibilidad de que se trate de un AMLE en sus recomendaciones. Existe muy poca información respecto al manejo de este tipo de lesiones, sólo hay series de casos publicadas. Faltan estudios prospectivos que otorguen herramientas para la toma de decisiones terapéuticas adecuadas en estos pacientes.


Renal angiomyolipoma (AML) is a solid tumor formed by smooth muscle cells, dimorphic blood vessels and adipose tissue. This lesion has been always considered as a benign neoplasm. We report an asymptomatic 44 year-old female patient, with a tumor suggesting an AML in a CT scan greater than 4 cms, who had an open partial nephrectomy. The biopsy report showed an AML with a focal epithelioid component. Follow-up imaging in this case has not showed any recurrence. Epithelioid angiomyolipoma (EAML) is a variant with malignant potential that must be considered when a patient with a renal AML is been evaluated. Guidelines for AML management do not take AMLE as a differential diagnosis. Few studies have been published regarding the management of this kind of lesion, only consisting of case series. There is lack of prospective studies that could give tools for the decision-making process in the treatment of these patients.


Subject(s)
Humans , Female , Adult , Angiomyolipoma/diagnosis , Angiomyolipoma/pathology , Epithelioid Cells/pathology , Kidney Neoplasms/diagnosis , Kidney Neoplasms/pathology , Angiomyolipoma/surgery , Nephrectomy , Kidney Neoplasms/surgery , Perivascular Epithelioid Cell Neoplasms/pathology
6.
Rev. chil. enferm. respir ; 28(4): 294-302, dic. 2012. ilus, tab
Article in Spanish | LILACS | ID: lil-673051

ABSTRACT

Chile is a volcanic country with over 500 active volcanoes. Mounts Llaima and Villarrica are among the four most active volcanoes in South America. Activation or reactivation of a volcano is an unpredictable phenomenon and its impact can be catastrophic. Volcanic eruptions can trigger a variety of hazardous events, such as explosions, pyroclastic flows, mudflows, acid rain, climatic effects, among others. The impact of a volcanic eruption on human health depends on the type of eruption at which inhabitants have been exposed, the duration of this exposure and the previous health conditions of the exposed people. Some of these effects on human health are well known, such as burns, trauma, and respiratory disorders. In acute as well as in long term exposure, some of the respiratory health effects are still a matter of controversy and research on the mechanisms involved. Among the main adverse effects described in the respiratory tract are bronchoconstriction, amplification of the inflammatory response, complement disorders, silicosis and carcinogenesis. Considering the recent volcano eruptions of mount Chaitén (2008) and the cord of Caulle (2011) located in the south of Chile, we reviewed the deleterious effects of volcanic eruptions on human health and specifically on the respiratory system. Throughout this review we enclosed a number of recommendations, hopefully they will be useful in facing new volcanic eruptions in our country and everywhere.


Chile es un país volcánico con más de 500 volcanes activos. Los volcanes Llaima y Villarica están entre los cuatro más activos de Sudamérica. La activación o reactivación de un volcán es un fenómeno impredecible y su impacto puede llegar a ser catastrófico. Las erupciones volcánicas contemplan diversas manifestaciones, tales como explosiones, flujos piroclásticos, flujos de lodo, lluvia ácida, efectos climatológicos, entre otros. El impacto sobre la salud humana depende del tipo de manifestación a la que haya sido expuesta una determinada población, la duración de esta y las condiciones de salud previas a la exposición. Algunos de estos efectos son ampliamente conocidos, como quemaduras, traumatismos y alteraciones del sistema respiratorio. Siendo algunas de estas últimas aun motivo de controversia e investigación, tanto en sus efectos agudos y a largo plazo como en sus mecanismos. Dentro de las principales alteraciones descritas en el sistema respiratorio se encuentran la broncoconstricción, amplificación de la respuesta inflamatoria, alteraciones del complemento, silicosis y carcinogénesis. Considerando las recientes erupciones volcánicas registradas en el sur de Chile: Volcán Chaitén (2008) y el cordón del Caulle (2011), hemos realizado una revisión de los efectos deletéreos de éstas sobre la salud humana y específicamente sobre el sistema respiratorio. Esperamos que esta revisión y la serie de recomendaciones incluidas en ella, sean de utilidad ante una nueva erupción volcánica en Chile y en cualquier otro país.


Subject(s)
Humans , Ash/adverse effects , Respiratory Tract Diseases/etiology , Volcanic Eruptions/adverse effects , Chile , Air Pollution/adverse effects , Disasters , Respiratory Tract Diseases/prevention & control , Environmental Exposure
7.
Rev. chil. infectol ; 29(3): 255-262, jun. 2012. graf, tab
Article in Spanish | LILACS | ID: lil-645592

ABSTRACT

Accidents with risk of occupational exposure to body fluids constitute more of a third of labor accidents. Objective: To describe the annual incidence of accidents with exposure to body fluids in the Felix Bulnes Hospital from1998 to 2008. Material and Methods: A retrospective analysis of reports from the Infection Control Committee. Results: During 11 years, there were 415 accidents with exposure to body fluids, with the cumulative incidence of 3,4% (range 1.3% to 6%). Sharp instrument accidents accounted for 92,5% of cases. The main health care providers affected were the paramedical technicians and the students. The highest frequency of accidents occurred in the obstetrical operating rooms (20%) and in the central operating rooms (17%). There were no cases of seroconversion and no exposure to HCV or HBV. The estimated costs were USD $35638,6 or USD $271 per 1000 staff per year. Conclusions: The incidence increased during the first years of the study and then remained stable since 2001, despite efforts in training personnel. Many factors contribute to the development of these accidents, such as lack of experience, type of clinical benefit and even daytime working hours.


Los accidentes por exposición a fluidos corporales de riesgo constituyen más de un tercio de los accidentes laborales. Objetivo: Describir la incidencia anual de accidentes por exposición a fluidos corporales de riesgo en el Hospital Clínico Félix Bulnes Cerda durante los años 1998 a 2008. Material y Métodos: Estudio descriptivo, retrospectivo, de análisis de reportes del Comité de infecciones asociadas a la atención de salud (IAAS). Resultados: Se registraron 415 accidentes por exposición a fluidos corporales de riesgo, siendo la incidencia acumulada de 3,4% (rango 1,3 a 6,0%) durante los 11 años estudiados. Los accidentes corto-punzantes constituyeron 92,5% de los casos. Los técnicos paramédicos y alumnos de carreras de la salud fueron los estamentos más afectados. La mayor frecuencia de accidentes ocurrió en los pabellones quirúrgicos de maternidad (20%) y en los pabellones centrales (17%). No se registraron casos de seroconversión y no hubo exposiciones a VHC o VHB. Los costos estimados fueron $ 17.292.916, $ 131.500 por 1.000 funcionario/ alumno por año (USD $ 34,571 o USD $ 263 por 1.000 funcionario/alumno por año). Conclusiones: La incidencia aumentó durante los primeros años del estudio para luego mantenerse estable desde el año 2001, a pesar de los esfuerzos realizados en capacitación. Muchos factores favorecen el desarrollo de estos accidentes, como la falta de experiencia, el tipo de prestación clínica e incluso la jornada laboral diurna.


Subject(s)
Humans , Body Fluids , HIV Seroprevalence , Occupational Exposure/statistics & numerical data , Occupational Injuries/epidemiology , Personnel, Hospital/statistics & numerical data , Chile/epidemiology , Incidence , Operating Rooms , Occupational Exposure/economics , Occupational Injuries/economics , Retrospective Studies , Risk Factors , Risk Management , Students, Health Occupations/statistics & numerical data
8.
Rev. méd. Chile ; 140(5): 601-608, mayo 2012. ilus, tab
Article in Spanish | LILACS | ID: lil-648586

ABSTRACT

Background: Health promotion can be carried out at work places. Aim: To assess cardiovascular risk factors among workers of a University hospital. Material and Methods: Cross sectional study of 888 participants (aged 41 ± 11 years, 76% women), who answered a survey about cardiovascular risk factors. Body mass index, waist, blood pressure and total cholesterol (TC) by capillary method were determined. Results: Self reported prevalence of risk factors were as follows: 19% of participants had high blood pressure, 30% hypercholesterolemia, 6% diabetes, 41% smoked, 88% were sedentary and 26% had a family history of cardiovascular diseases. Five percent of participants did not have any risk factor, 20% had one risk factor, 32% had two and 43% had three or more. The highest frequency of lack of awareness was about blood glucose values. A high blood cholesterol level was found in 27% of those reporting normal cholesterol levels. Likewise, a high body mass index was found in 18% of those reporting a normal weight. Conclusions: The prevalence of cardiovascular risk factors in this group of participants is similar to that found in the last national health survey in Chile. Noteworthy is the lack of awareness about these risk factors.


Subject(s)
Adult , Female , Humans , Male , Cardiovascular Diseases/epidemiology , Health Knowledge, Attitudes, Practice , Health Promotion , Hospitals, University/statistics & numerical data , Occupational Diseases/epidemiology , Personnel, Hospital/statistics & numerical data , Age Factors , Cardiovascular Diseases/etiology , Cardiovascular Diseases/prevention & control , Chile/epidemiology , Cholesterol/blood , Cross-Sectional Studies , Health Surveys , Occupational Diseases/etiology , Occupational Diseases/prevention & control , Risk Factors , Sex Distribution , Sex Factors
9.
Rev. chil. pediatr ; 83(2): 154-160, abr. 2012. ilus, tab
Article in Spanish | LILACS | ID: lil-639751

ABSTRACT

If not detected and treated early, congenital sensorineural hearing loss generates impairment in linguistic, intellectual and social development of individuals. Most congenital hearing deficits are genetic. The most common causes are mutations in GJB2 and GJB6 genes, both located on chromosome 13, encoding junction proteins that allow the transduction of sound in the inner ear. Objetive: To evaluate the presence of mutations in GJB2 and GJB6 genes in a population of children diagnosed with deafness in Complejo Hospitalario Sótero del Río since implementation of the universal newborn hearing screening program. Patients and Methods: 8 patients with congenital nonsyndromic sensorineural deafness were evaluated. Genomic DNA was extracted from oral mucosa swabs. PCR was performed to identify the 35 del G mutation in GJB2, followed by sequencing of this gene, and PCR for 2 GJB6 deletions. Results: Two patients were heterozygous for 35 del G mutation in GJB2, being their other alleles normal. Another 2 patients were heterozygous for V27I polymorphism, one of them also accompanied by p.A148A (c.444C > A) variant. A patient was found with a previously undescribed mutation (c.4360 C>T) in GJB2's intron 1, being the second allele normal. No mutations were identified in GJB6. Conclusions: In this population of children, mutations in the GJB2 gene were an identifiable cause of congenital sensorineural.


La hipoacusia neurosensorial congénita es una patología frecuente que si no es detectada y tratada oportunamente genera alteraciones en el desarrollo del niño. Desde el año 2005 se lleva a cabo en el Complejo Hospitalario Dr. Sótero del Río un programa de screening auditivo universal para la detección precoz de esta patología. La mayor parte de los déficits auditivos congénitos son genéticos. La etiología más común son las mutaciones en los genes GJB2 y GJB6, que codifican para proteínas "gap junction" que permiten la traducción del sonido en el oído interno. Objetivo: Evaluar la presencia de mutaciones de los genes GJB2 y GJB6 en una población de niños diagnosticados con hipoacusia congénita en el Complejo Hospitalario Dr. Sótero del Río a través del programa de screening auditivo universal. Pacientes y Método: Se evaluaron 8 pacientes con hipoacusia congénita neurosensorial no sindrómica. Se extrajo ADN genómico de hisopado de mucosa bucal y se realizó PCR para identificar la mutación 35 del G en GJB2, seguida de secuenciación de este gen, y PCR para 2 deleciones del gen GJB6. Resultados: Dos pacientes fueron heterocigotos para la mutación 35 del G en GJB2, siendo sus otros alelos normales. Dos fueron heterocigotos para el polimorfismo V27I; uno acompañado por la variante p.A148A (c.444 C > A). Se encontró además un paciente con una mutación no descrita anteriormente (c.4360 C>T) en el intrón 1 de GJB2, siendo su segundo alelo normal. No se identificaron mutaciones en GJB6. Conclusiones: En este grupo de niños estudiados se encontró mutaciones en el gen GJB2, causantes de sordera neurosensorial congénita.


Subject(s)
Humans , Child , Connexins/genetics , Genetic Testing , Mutation , Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/genetics , Electrophoresis , Phenotype , Polymerase Chain Reaction , Hearing Loss, Sensorineural/congenital
10.
Rev. cientif. cienc. med ; 15(2): 41-44, 2012. ilus
Article in Spanish | LILACS | ID: lil-738053

ABSTRACT

La enfermedad de Alzheimer ha sido investigada durante muchos años y aún se desconocen sus causas. Según investigaciones se reconoció al virus herpes simple tipo 1, que actúa en combinación con el factor genético ApoE-(3)4, como factor de riesgo que incrementa la susceptibilidad de la enfermedad. Existen diversas formas posibles en el que el HSV1 (virus herpes simple tipo 1) podría conducir al desarrollo de la enfermedad de Alzheimer, tales como su regulación por diversas enzimas y, en particular ciertas quinasas; su efecto sobre el ciclo celular; en la autofagia, y sus efectos inflamatorios, oxidativos relacionados con la neuroglobina. Actualmente se están desarrollando posibles tratamientos, experimentales en animales, para fortificar el sistema inmunológico contra el virus herpes simple tipo 1, simultáneamente llegan a ser una forma de prevención para la enfermedad de Alzheimer. También se probó que algunos antivirales reducen la formación de las placas seniles. La relación Herpes-Alzheimer requiere muchos factores para su desarrollo, muchos de ellos son factores genéticos y enzimas o proteinas defectuosas.


Alzheimer's disease has been investigated for many years and its causes are unknown. According to research recognized simplex type 1 virus, which acts in combination with the ApoE-(3)4 genetic factor, as a risk factor that increases the susceptibility of the disease.There are several possible ways in which HSV1 (herpes simplex virus type 1) could lead to Alzheimer's disease, such as regulation by different enzymes and in particular specific kinases, their effect on cell cycle, autophagy, and their oxidative, inflammatory effects and related neuroglobin. Currently there developing possible experimental treatments in animals, in order to fortify the immune system against herpes simplex virus type 1, to simultaneously become a form of disease prevention. It was also proved that some antiviral medication, reduce she formation of senile plaques. In conclusion, herpes-Alzheimer relationship requires many factors to their development, many of them are genetic factors or defective proteins and enzymes.

11.
Braz. j. microbiol ; 41(2): 391-403, Apr.-June 2010. tab, ilus
Article in English | LILACS | ID: lil-545348

ABSTRACT

Soybean is the most important oilseed cultivated in the world and Brazil is the second major producer. Expansion of soybean cultivation has direct and indirect impacts on natural habitats of high conservation value, such as the Brazilian savannas (Cerrado). In addition to deforestation, land conversion includes the use of fertilizers and pesticides and can lead to changes in the soil microbial communities. This study evaluated the soil bacterial and fungal communities and the microbial biomass C in a native Cerrado and in a similar no-tillage soybean monoculture area using PCR-DGGE and sequencing of bands. Compared to the native area, microbial biomass C was lower in the soybean area and cluster analysis indicated that the structure of soil microbial communities differed. 16S and 18S rDNA dendrograms analysis did not show differences between row and inter-row samples, but microbial biomass C values were higher in inter-rows during soybean fructification and harvest. The study pointed to different responses and alterations in bacterial and fungal communities due to soil cover changes (fallow x growth period) and crop development. These changes might be related to differences in the pattern of root exudates affecting the soil microbial community. Among the bands chosen for sequencing there was a predominance of actinobacteria, y-proteobacteria and ascomycetous divisions. Even under no-tillage management methods, the soil microbial community was affected due to changes in the soil cover and crop development, hence warning of the impacts caused by changes in land use.


Subject(s)
Biomass , Fertilizers , Fungi , In Vitro Techniques , Pest Control, Biological , Polymerase Chain Reaction , Soil Microbiology , Glycine max , Food Samples , Methods , Methods
12.
Rev. otorrinolaringol. cir. cabeza cuello ; 66(2): 103-106, ago. 2006. graf
Article in Spanish | LILACS | ID: lil-475810

ABSTRACT

Se analizan los resultados obtenidos en la primera fase del programa de Detección Precoz de la Sordera en el Hospital Sótero del Río durante el año 2004. Se estudia un total 244 casos, evaluados en el Servicio de Otorrinolaringología (ORL), en cuanto a los resultados obtenidos de la primera evaluación con emisiones otoacústicas transientes (EOAT) automáticas, en el Servicio de Neonatología, examen impedanciométrico y emisiones otoacústicas por producto de distorsión (EOAPD) clínica. Además, se evalúa el tiempo promedio que transcurre entre el screening tomado en la maternidad y el primer examen de emisiones otoacústicas (EOA) clínico, en 144 casos. Como resultados se obtiene que el 22,8 por ciento de los menores evaluados en neonatología son derivados a re-screening y 6 por ciento va a estudio audiológico diagnóstico. En cuanto a la eficiencia del sistema se desprende un promedio de 14 días entre el screening de la maternidad y la primera EOA clínica.


Subject(s)
Humans , Male , Female , Infant, Newborn , Neonatal Screening , Hearing Disorders/diagnosis , Diagnostic Techniques, Otological/statistics & numerical data , Chile , Otoacoustic Emissions, Spontaneous , Retrospective Studies , Follow-Up Studies , Evoked Potentials, Auditory, Brain Stem , Acoustic Impedance Tests , Risk , Deafness/diagnosis
13.
Rev. méd. Chile ; 129(8): 886-894, ago. 2001. tab, graf
Article in Spanish | LILACS | ID: lil-300149

ABSTRACT

Background: Three-drug antiretroviral therapy (ART-3) has reduced complications and improved survival in HIV+ patients. The Chilean Public Health System began dual therapy (ART-2) in 1997, covering approximately 40 percent of patients in need. Aim: To report the results of a follow-up of patients with and without access to ART in a Chilean public hospital. Patient and Methods: Prospective follow-up of patients with ART-2 and 3 (cases) and patients with no access to ART (controls). All patients needed ART but it was available to a minority of them. Selection for ART was at random. Follow-up was between 6-24 months (11/96 to 3/99). Basal and periodic clinical and laboratory parameters were determined. Mortality and occurrence of new AIDS-defining events (ADE) were compared statistically using chi square. Results: One hundred and fifty cases (106 ART2, 28 ART3 and 16 ART2 expanded to ART3) and 166 controls were studied. Basal parameters were similar except prior ART (32.7 and 18.7 percent in cases and controls respectively). Close to 1/3 patients had AIDS. Cases had a mean follow up of 527 days; controls, 478. Six cases (4 percent) (5 in ART-2) and 17 controls (10 percent) died. Mortality x 100/pts/yr was 2.7 in cases and 7.7 in controls, p <0.05. ADE per 100/pts/yr was 21 in cases (24.4 in ART2, 15.1 in TAR3) and 54.5 in controls, p <0.05. Cases had a reduction of: esophageal candidiasis (84 percent), tuberculosis (75 percent), cryptococcosis and toxoplasmosis (66 percent), P carinii pneumonia (55 percent) and bacterial pneumonia (46 percent) and they had fewer hospitalizations (73 percent). Late assessment: 70 of 101 ART-2 patients had changed to ART-3 (1 death); 22 of 101 kept original ART-2 (12 dead, 10 alive), 39 of 43 ART-3 patients were alive and 1 died. Conclusions: Short-term ART-2 and 3 significantly reduced mortality (60 percent and 73 percent) ADE (65 percent and 76 percent respectively) and hospitalizations. Benefits of ART-2 were short lived. Resource-constrained countries cannot depend on weaker than standard ART for proper care of people with HIV disease


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Zidovudine , Lamivudine , Acquired Immunodeficiency Syndrome/drug therapy , Case-Control Studies , Prospective Studies , AIDS-Related Opportunistic Infections , Anti-HIV Agents , Hospitalization , Acquired Immunodeficiency Syndrome/complications , Acquired Immunodeficiency Syndrome/mortality
14.
Rev. Fac. Med. (Caracas) ; 23(2): 126-130, jul.-dic. 2000. ilus
Article in Spanish | LILACS | ID: lil-305279

ABSTRACT

La asimetría del hiperparatiroidismo en la insuficinecia renal crónica es muy infrecuente y está poco estudiado, algunos autores lo atribuyen a inactivación del gen supresor tumoral del cromosoma 11, actividades de oncogénes, modificación en los receptores de vitamina D y otros factores tróficos. A propósito de una revisión teórico-analítica de los archivos de anatomía patológica del Hospital Miguel Pérez Carreño (HMPC), Caracas, Venezuela período 1994-1998. Se encontró de 21.000 biopsias generales, dos casos de esta patología. Se realizó una revisión teórico-analítica para destacar los planteamientos hechos sobre dicho tópico


Subject(s)
Humans , Male , Female , Hyperparathyroidism , Renal Insufficiency, Chronic/diagnosis , Venezuela
15.
Rev. méd. Chile ; 128(8): 839-45, ago. 2000. tab
Article in Spanish | LILACS | ID: lil-270905

ABSTRACT

Background: Combined antiretroviral therapy (AVR) has shown a protective effect (PE) on morbidity and survival in HIV (+) patients of industrialised countries where triple-drug therapy (ARV-3) is standard. In Chile the public health system began providing double-drug therapy in 1997 (ARV-2) with 2 reverse transcriptase inhibitors. Aim: To assess the impact of ARV in morbimortality of HIV (+) patients in Chile after a year of follow up. Patients and methods: Retrospective case-control (1:1) study. Cases were 97 patients followed during 1997 for 6 or more months and dying during that period. Each case had a control of the same gender and CDC stage, similar age and CD4 count, but surviving a same period of follow up. A comparison of ARV before and during follow up (rate and type) was done. P carinii prophylaxis, pneumococcal immunization at baseline or follow up, frequency of hospital admissions and occurrence of opportunistic infections in both groups were assessed. Odds ratio (OR) for mortality, hospitalisation and opportunistic infections in ARV user, as well as treatment PE were calculated. Results: Twenty four (24.7 percent) cases and sixty six (68 percent) controls received ARV during follow up (p< 0.001), OR was 0.15 (CI 95 percent 0.08-0.3), p < 0.001, the PE was 6.6 for ARV users versus non users, among cases 19 patients received ARV-2 and five received ARV-3. Among controls, 41 patients received ARV-2 and 25 received ARV-3. These differences established an OR of 0.20 (CI 95 percent 0.09-0.04) and a PE of 5 for ARV-2 versus no ARV. For ARV-3 compared with no ARV the OR was 0.08 (CI 95 percent 0.003-0.26), and the PE 12.5. Fifty three (54.6 percent) cases and 13 (13.4 percent) controls required hospital admission, OR 0.49 (CI 95 percent 0.25-0.94), p=0.03, and PE of 2.04 of ARV versus no ARV; 82 (85.3 percent) cases and 50 (51 percent) controls had opportunistic infections, OR 0.5 (CI 95 percent 0.26-0.96), p=0.03 and PE of 2 for ARV versus no ARV. There were no significant differences in prior ARV, prophylaxis and immunisation between cases and controls. Conclusions: This study showed the high impact of ARV in short term morbimortality of HIV(+) patients and the need to implement antiretroviral therapy to all patients as an official health policy. This study did not answer the question of the role, if any, of weaker-than standard antiretroviral therapy


Subject(s)
Humans , Female , Male , Adult , Middle Aged , Protease Inhibitors/pharmacology , Zidovudine/pharmacology , Reverse Transcriptase Inhibitors/pharmacology , Acquired Immunodeficiency Syndrome/drug therapy , Case-Control Studies , Retrospective Studies , AIDS-Related Opportunistic Infections/drug therapy , AIDS-Related Opportunistic Infections/epidemiology , Anti-HIV Agents/pharmacology , Drug Therapy, Combination , Hospitalization/statistics & numerical data , Acquired Immunodeficiency Syndrome/mortality
16.
Braz. j. vet. res. anim. sci ; 35(4): 151-5, 1998. tab, graf
Article in Portuguese | LILACS | ID: lil-266019

ABSTRACT

A dinâmica populacional de Lymnaea columella na pastagem foi estudada por um período de seis anos em fazendas de exploraçäo leiteira positivas para Fasciola hepatica. A pesquisa foi desenvolvida nos municípios de Piquete e Redençäo da Serra, Estado de Säo Paulo. Os resultados obtidos foram diferentes em cada fazenda, revelando que a dinâmica da populaçäo de moluscos está estreitamente relacionada a fatores ecológicos e climáticos. No município de Piquete, o aumento da variaçäo da densidade populacional flutua em relaçäo inversa à temperatura e à pluviosidade, encontrando maior número de moluscos no período seco do ano (maio-outubro). No município de Redençäo da Serra, a grande quantidade de matéria orgânica observada no biótopo foi responsávei pela captura do maior número de moluscos no período de altas temperaturas e chuvas janeiro-março)


Subject(s)
Fasciola hepatica , Population Dynamics
17.
Rev. chil. infectol ; 13(4): 231-5, 1996.
Article in Spanish | LILACS | ID: lil-207399

ABSTRACT

A male patient aged 32 developed infectious endocarditis on a congenital (and repaired) stenotic aortic valve defect. He presented with prolonged fever and wasting symptoms and also referred recurrent gingivitis. At admission, fever, systolic and diastolic aortic murmurs, and periodontitis were registered. Ultrasound imaging showed aortic vegetations reaching a maximal diameter of 49 mm and a severe aortic stenosis and insufficiency. Patient received treatment with vancomycin and gentamycin due to penicillin allergy but developed a progressive non-oliguric acute renal failure. Blood cultures revealed bacilli of uncertain gram stain that were recognized as gram negative bacilli and identified as Capnocytophaga sputigena at the National Reference Laboratory. Patient remained stable but murmurs increased and new imaging studies revealed the development of a unique septal abscess despite antibiotic therapy with intravenous ciprofloxacin. Intraoperative finding showed a perforated aortic coronary leaflet


Subject(s)
Humans , Male , Adult , Abscess/microbiology , Capnocytophaga/isolation & purification , Endocarditis, Bacterial/microbiology , Aortic Valve/microbiology , Capnocytophaga/pathogenicity , Ciprofloxacin , Gram-Negative Bacteria/drug effects , Heart Valve Prosthesis , Vancomycin
18.
Rev. chil. cir ; 45(6): 557-61, dic. 1993. tab
Article in Spanish | LILACS | ID: lil-135413

ABSTRACT

El cáncer de esófago es de mal pronóstico, porque habitualmente se pesquisa en estados muy avanzados y las terapias con intención curativa son posibles en no mas de 20-25 por ciento de los casos. Existe consenso en que las resecciones paliativas son las mas satisfactorias, pero siendo su indicación muy limitada hay que recurrir con mas frecuencia a cortocircuitos, endoprótesis, radioterapia, dilataciones o tunelizaciones con laser las que tienen resultados mas inciertos y transitorios. Se analiza la experiencia en nuestro servicio entre 1986 y 1990 comparándola con la del quinquenio anterior: de 47 pacientes tratados paliativamente se operan 41 y se irradian en forma exclusiva 6, todos con lesiones muy avanzadas. Se efectuan 12 esofagectomías (10 por stripping), 7 puentes, 11 prótesis y 11 exploraciones (6 con ostomías). La morbilidad postoperatoria es importante en los resecados, en los puentes y en las prótesis determinando una mortalidad global de 43,9 por ciento , que es alta en los simplemente explorados y en los con prótesis y que llega sólo a 16,6 por ciento en los resecados. La mayor sobrevida la obtuvimos en resecados y en ostomías mas irradiación. La mayor utilización de procedimientos no resectivos no ha significado mejores resultados, salvo en casos aislados, corroborando la experiencia mundial acerca de la dudosa utilidad de los puentes y no alcanzando aún los aceptables resultados que se obtienen en otros centros nacionales con las endoprótesis. Los mayores beneficios fueron logrados en pacientes seleccionados con cirugía resectiva sin toracotomía y en pacientes con radioterapia


Subject(s)
Humans , Male , Female , Middle Aged , Esophageal Neoplasms/therapy , Palliative Care , Anastomosis, Surgical , Esophagectomy , Ostomy , Postoperative Complications , Prostheses and Implants/statistics & numerical data , Radiotherapy/statistics & numerical data
19.
Gac. méd. boliv ; 16(3): 89-94, dic. 1992. tab
Article in Spanish | LILACS | ID: lil-127574

ABSTRACT

El presente estudio se realizo en 30 pacientes sometidos a cirugia abdominal que fueron divididas en dos grupos uno de los cuales recibio Domperidona y el otro no. Los resultados sugieren que este farmaco disminuye el tiempo de postoperatorio al favorecer la pronta restitucion del peristaltismo normal, fenomeno verificado mediante la eliminacion de gases y la restitucion de los ruidos hidroaereos.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Abdomen/surgery , Domperidone/therapeutic use , Ileal Diseases , Ileum/surgery , Anesthesia , Bolivia , Cholecystectomy/rehabilitation , Thoracic Surgery/rehabilitation , Intestinal Obstruction/physiopathology , Postoperative Period
20.
Gac. méd. boliv ; 16(3): 99-106, dic. 1992. tab
Article in Spanish | LILACS | ID: lil-127576

ABSTRACT

La dinamica respiratoria se efectua en el post-operatorio de cirugia abdominal, aun en sujetos sanos con funcion pulmonar indemne, individuos con antecedentes de riesgo pueden hacer complicaciones como: atelectasia, neumonia, falla respiratoria aguda, etc. Tradicionalmente como medida preventiva se recomienda fisioterapia respiratoria despues de la cirugia. Con el objeto de valorar la eficacia de esta, se estudiaron tres grupos de 10 pacientes, cada uno un grupo control, uno que realizo insuflacion de globos y el tercero fisioterapia con sello de agua. Se valoro gasometria y espirometria. Los resultados encontrados nos indicarian que la fisioterapia no mejora la ventilacion, ya que constituye un proceso activo, dependiente de la voluntad del paciente, el mismo que disminuye por el dolor y otros factores. En el grupo que trabajo con sello de agua, se encontro mejores parametros en el intercambio gaseoso, probablemente debido a la presion positiva en la via aerea que genera este metodo, lo que evitaria el colapso de los bronquioalveolos.


Subject(s)
Humans , Male , Female , Middle Aged , Abdomen/surgery , Thoracic Surgery/rehabilitation , Physical Therapy Department, Hospital/statistics & numerical data , Respiration/physiology , Respiratory Therapy/statistics & numerical data , Anesthesia/trends , Bolivia , Postoperative Care/rehabilitation , Postoperative Care/standards , Pulmonary Gas Exchange/physiology
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