Synergistic Genetic Interactions between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models.

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) are genetically distinct, with ADPKD usually caused by the genes PKD1 or PKD2 (encoding polycystin-1 and polycystin-2, respectively) and ARPKD caused by PKHD1 (encoding fibrocystin/polyductin [FPC]). Primary cilia have been considered central to PKD pathogenesis due to protein localization and common cystic phenotypes in syndromic ciliopathies, but their relevance is questioned in the simple PKDs. ARPKD's mild phenotype in murine models versus in humans has hampered investigating its pathogenesis. METHODS: To study the interaction between Pkhd1 and Pkd1, including dosage effects on the phenotype, we generated digenic mouse and rat models and characterized and compared digenic, monogenic, and wild-type phenotypes. RESULTS: The genetic interaction was synergistic in both species, with digenic animals exhibiting phenotypes of rapidly progressive PKD and early lethality resembling classic ARPKD. Genetic interaction between Pkhd1 and Pkd1 depended on dosage in the digenic murine models, with no significant enhancement of the monogenic phenotype until a threshold of reduced expression at the second locus was breached. Pkhd1 loss did not alter expression, maturation, or localization of the ADPKD polycystin proteins, with no interaction detected between the ARPKD FPC protein and polycystins. RNA-seq analysis in the digenic and monogenic mouse models highlighted the ciliary compartment as a common dysregulated target, with enhanced ciliary expression and length changes in the digenic models. CONCLUSIONS: These data indicate that FPC and the polycystins work independently, with separate disease-causing thresholds; however, a combined protein threshold triggers the synergistic, cystogenic response because of enhanced dysregulation of primary cilia. These insights into pathogenesis highlight possible common therapeutic targets.

Reduction of Candida albicans biofilm formation by coating polymethyl methacrylate denture bases with a photopolymerized film.

STATEMENT OF PROBLEM: As Candida albicans biofilm formation is associated with severe local and systemic infections in denture-wearing patients, its prevention or reduction becomes an essential factor in the health of this population. PURPOSE: The purpose of this in vitro study was to investigate whether 2 photopolymerized coatings of poly(acrylic acid) (PAA) and poly(itaconic acid) (PIA) can effectively reduce the adhesion of C albicans on denture base acrylic resin surfaces. MATERIAL AND METHODS: The surface of the polymethyl methacrylate (PMMA) denture base was modified through photopolymerization of a thin film of PAA or PIA. The polymeric coatings were characterized by scanning electron microscopy (SEM), Fourier transform infrared spectroscopy (FTIR), X-ray photoelectron spectroscopy (XPS), contact angle goniometry (CA), and surface roughness measurement (Ra). For biological evaluation, the coated PMMA surfaces were tested in a C albicans biofilm dynamic formation model, observed by confocal laser scanning microscopy (CLSM), and quantified by the number of colony-forming units (CFUs). The cytotoxicity of the polymeric coatings was also evaluated by using a lactic dehydrogenase-based (LDH) test. For statistical analysis, ANOVA and the nonparametric Kruskal-Wallis test were used (α=.05). RESULTS: The PMMA resin base surfaces coated with PAA and PIA had an inhibitory effect on C albicans growth, the wettability of the coated surface, and the average roughness. The PAA and PIA coatings had no statistically significant cytotoxic effect on periodontal ligament fibroblasts. CONCLUSIONS: PMMA acrylic resin base material was superficially modified through the incorporation of carboxylic acid groups by using PAA and PIA coatings that reduced the adherence of C albicans biofilm by 90%.

Impact of a virtual learning environment on the conscious prescription of antibiotics among Colombian dentists.

Appropriate antibiotic prescription contributes to reducing bacterial resistance; therefore, it is critical to provide training regarding this challenge. The objective of this study was to develop a virtual learning environment for antibiotic prescription and to determine its impact on dentists' awareness, attitudes, and intention to practice. First, the learning content on multimedia resources was developed and distributed into three challenges that participants had to overcome. Then, a quasi-experimental study was performed in which the virtual learning environment was implemented on dentists from seven Colombian cities. The median of correct answers and the levels of awareness, attitudes, and intention to practice were compared before, immediately after, and 6-months post-intervention. Wilcoxon signed-rank and McNemar's tests were used to determine the differences. A total of 206 participants who finished the virtual learning environment activities exhibited a favorable and statistically significant impact on the median of correct answers of awareness (p < 0.001), attitudes (p < 0.001), and intention to practice (p = 0.042). A significant increase occurred in the number of participants with a high level of awareness (p < 0.001) and a non-significant increase in participants with high levels of attitudes (p = 0.230) and intention to practice (p = 0.286). At 6 months, the positive effect on the median of correct answers on awareness and intention to practice persisted (p < 0.001); however, this was not evident for attitudes (p = 0.105). Moreover, there was a significant decrease in the number of participants who showed low levels of awareness (p = 0.019) and a slight increase in those with high levels of the same component (p = 0.161). The use of a virtual learning environment designed for dentists contributed to a rapid improvement in awareness and intention to practice antibiotic prescription; however, their attitudes and information retention need reinforcement.

Prescribing antibiotics by dentists in Colombia: Toward a conscientious prescription.

OBJECTIVES: Inappropriate prescription of antibiotics contributes to antibiotic resistance. Therefore, the objective of this study was to determine the awareness, attitudes, and intention to practice of dentists prescribing antibiotics in Colombia in order to design a virtual learning environment on this subject. METHODS: In a descriptive study across seven cities, 700 dentists from different Colombian cities were requested to complete a validated questionnaire containing five sections: general information, awareness on antibiotic effectiveness and antibiotic resistance, attitudes regarding prescription decision, intention to practice concerning clinical cases, and complementary information. The level of awareness, attitudes, and intention to practice was determined and Chi-square test was used to determine the existence of significant differences among cities. RESULTS: The majority of dentists showed a medium level regarding the number of correct answers on awareness (62.4 percent) and attitudes (88.7 percent) and a high level on intention to practice (91.7 percent). Common errors within the awareness section included the meaning of the term "antibiotic resistance" (35 percent) and most dentists were not convinced that such resistance could be derived from prescription of antibiotics (51.2 percent). In the attitudes section, only 45 percent declared that they prescribe antibiotics based mainly on symptoms, and the intention to practice section showed a significant percentage of unnecessary prescription (51 percent for pacemaker users) or absence of prescription (53.9 percent for ventricular septal defect) in antibiotic prophylaxis for infectious endocarditis (IE). CONCLUSION: The dentists interviewed should be trained and made aware of antibiotic resistance, microbiological and clinical foundations, and current antibiotic prophylaxis guidelines.

Understanding the Interaction between a Steel Microstructure and Hydrogen.

The present work provides an overview of the work on the interaction between hydrogen (H) and the steel’s microstructure. Different techniques are used to evaluate the H-induced damage phenomena. The impact of H charging on multiphase high-strength steels, i.e., high-strength low-alloy (HSLA), transformation-induced plasticity (TRIP) and dual phase (DP) is first studied. The highest hydrogen embrittlement resistance is obtained for HSLA steel due to the presence of Ti- and Nb-based precipitates. Generic Fe-C lab-cast alloys consisting of a single phase, i.e., ferrite, bainite, pearlite or martensite, and with carbon contents of approximately 0, 0.2 and 0.4 wt %, are further considered to simplify the microstructure. Finally, the addition of carbides is investigated in lab-cast Fe-C-X alloys by adding a ternary carbide forming element to the Fe-C alloys. To understand the H/material interaction, a comparison of the available H trapping sites, the H pick-up level and the H diffusivity with the H-induced mechanical degradation or H-induced cracking is correlated with a thorough microstructural analysis.

Characterization of patients diagnosed with autoimmune hepatitis in a fourth level hospital from Cali, 2014-2020

Introduction: Autoimmune hepatitis (AIH) is a chronic inflammatory disease of the liver, rarely identified by clinicians to the point of being detected in late stages. It is rare, although there is a lack of epidemiological data. Early diagnosis has implications for the outcomes and development of advanced liver disease. This study describes sociodemographic, clinical, and laboratory characteristics, treatments received and their response and outcomes of interest in adult patients diagnosed with AIH treated at a university hospital in Cali, Colombia. Materials and methods: This observational historical cohort study included patients over 18 years of age of both sexes diagnosed with definitive AIH treated in the emergency services, outpatient clinic, intensive care, and hospitalization at the Fundación Valle del Lili University Hospital between January 2014 and December 2020. Results: 81 patients met the inclusion criteria; 86% were women. The median age was 49 (30-61), and autoimmune disease was comorbidity in 28.4%. Regarding pharmacological treatment, prednisolone and azathioprine were the most frequently used for induction and maintenance. The regimen of prednisolone or prednisolone with azathioprine was used in 79%. Four patients underwent liver transplantation, with no acute liver failure cases. There was only one case of mortality not related to AIH during follow-up. Conclusion: Patients with definitive AIH are mostly middle-aged adults and women, as found in the literature, with a low percentage of cirrhosis and, in earlier stages, low mortality and liver transplantation requirement. The low percentage of liver biopsy is the most critical limitation in the diagnosis and, therefore, in the outcomes of undiagnosed patients.

Introducción: la hepatitis autoinmune (HAI) es una enfermedad inflamatoria crónica del hígado poco identificada por los clínicos, al punto de detectarse en estadios tardíos. Es poco frecuente, aunque hay falta de datos epidemiológicos. El diagnóstico temprano tiene implicaciones en los desenlaces y aparición de enfermedad hepática avanzada. El objetivo de este estudio es describir las características sociodemográficas, clínicas y de laboratorio, así como los tratamientos recibidos y la respuesta a estos, y los desenlaces de interés de los pacientes adultos con diagnóstico de hepatitis autoinmune atendidos en un hospital universitario de la ciudad de Cali, Colombia. Materiales y métodos: estudio observacional de cohorte histórica que incluyó a pacientes mayores de 18 años de ambos sexos con diagnóstico de HAI con puntaje definitivo atendidos en los servicios de urgencias, consulta externa, cuidado intensivo y hospitalización en el Hospital Universitario Fundación Valle del Lili entre enero de 2014 y diciembre de 2020. Resultados: un total de 81 pacientes cumplió los criterios de inclusión. El 86% de los pacientes eran mujeres, la mediana de edad fue de 49 años (de 30 a 61) y hubo presencia de enfermedad autoinmune como comorbilidad en el 28,4%. Sobre el tratamiento farmacológico, prednisolona y azatioprina fueron los medicamentos más frecuentemente utilizados para el tratamiento de inducción y mantenimiento. El esquema de prednisolona o prednisolona con azatioprina se aplicó en el 79%. Cuatro pacientes fueron llevados a trasplante hepático y no se presentaron casos de insuficiencia hepática aguda. Se presentó un solo caso de mortalidad no relacionada con la HAI durante el tiempo de seguimiento. Conclusión: los pacientes con HAI definitivo son en su mayoría adultos de mediana edad y mujeres, similar a lo encontrado en la literatura, con un bajo porcentaje de cirrosis y en estadios más tempranos, baja mortalidad y requerimiento de trasplante hepático. El bajo porcentaje de biopsia hepática es la limitante más importante en el diagnóstico y, por ende, en los desenlaces de los pacientes no diagnosticados.

Oncolytic measles virus as a novel therapy for malignant peripheral nerve sheath tumors.

Malignant peripheral nerve sheath tumors (MPNSTs) are devastating soft tissue sarcomas that can arise sporadically or in association with neurofibromatosis type I, have a poor prognosis, and have limited treatment options. Oncolytic measles virus therapy has been demonstrated to have significant antitumor properties in a number of different cancers, but the oncolytic potential of a MV Edmonston (MVEdm) vaccine strain engineered to express the human sodium iodide symporter (MV-NIS) on MPNST has not previously been evaluated. MPNST cell lines were found to highly express CD46, a cellular receptor required for measles viral entry, on their cell surface. After in vitro MV-NIS infection, MPNST cell lines showed significant cytopathic effect (CPE), while normal Schwann cells were less susceptible to CPE. Virus localization and distribution could be monitored by imaging of I-125 uptake. Local administration of MV-NIS into MPNST-derived tumors resulted in significant regression of tumor and improved survival. These results demonstrate feasibility of oncolytic measles virus therapy for MPNST patients and the possibility of a novel treatment for patients with NF1 tumors.

Preoperative cerebrospinal fluid ß-Amyloid/Tau ratio and postoperative delirium.

OBJECTIVE: The neuropathogenesis of postoperative delirium remains unknown. Low cerebrospinal fluid (CSF) ßamyloid protein (Aß) and high CSF Tau levels are associated with Alzheimer's disease. We therefore assessed whether lower preoperative CSF Aß/Tau ratio was associated with higher incidence and greater severity of postoperative delirium. METHODS: One hundred and fifty three participants (71±5 years, 53% males) who had total hip/knee replacement under spinal anesthesia were enrolled. CSF was obtained during initiation of spinal anesthesia. The incidence and severity of postoperative delirium were determined by Confusion Assessment Method (CAM) and Memorial Delirium Assessment Scale (MDAS) on postoperative day 1 and 2. Aß40, Aß42, and Tau levels in the CSF were measured by enzyme-linked immunosorbent assay. The relationships among these variables were determined, adjusting for age and gender. RESULTS: Participants in the lowest quartile of preoperative CSF Aß40/Tau and Aß42/Tau ratio had higher incidence (32% versus 17%, P=0. 0482) and greater symptom severity of postoperative delirium (Aß40/Tau ratio: 4 versus 3, P=0. 034; Aß42/Tau ratio: 4 versus 3, P=0. 062, the median of the highest Memorial Delirium Assessment Scale score) as compared to the combination of the rest of the quartiles. The preoperative CSF Aß40/Tau or Aß42/Tau ratio was inversely associated with Memorial Delirium Assessment Scale score (Aß40/Tau ratio: -0.12±0.05, P=0.014, adj. -0.12±0.05, P=0.018; Aß42/Tau ratio: -0.65±0.26, P=0.013, adj. -0.62±0.27, P=0.022). INTERPRETATION: Lower CSF Aß/Tau ratio could be associated with postoperative delirium, pending confirmation of our preliminary results in further studies. These findings suggest potential roles of Aß and/or Tau in postoperative delirium neuropathogenesis.

Development and validation of a questionnaire to determine knowledge, attitudes and practices in antibiotics prescription in dentistry / Diseño y validación de un cuestionario para determinar conocimientos, actitudes y prácticas en la prescripción de antibióticos en odontología

Abstract Introduction: antibiotic prescription in dentistry is usually performed during the treatment of oral infections or as a prophylactic measure for patients at risk; however, studies in other countries report an inadequate prescription by dentists. The purpose of this study was to validate a questionnaire to identify the knowledge, attitudes, and practices around antibiotic prescription by dentists. Methods: the study was developed in five stages: 1. A survey was designed. 2. Content validity by an expert panel. 3. A pilot study. 4. Application of the questionnaire to determine its unidimensionality, reliability, and psychometric index. 5. The scales were standardized to present the results independently of the number of questions. Results: in stages 1 and 2, a survey was developed showing an appropriate level of agreement by an expert panel (with the following Kendalle's W values: sufficiency: 0.68; consistency: 0.69; relevance: 0.72; clarity: 0.81). Stage 3 showed that the questionnaire was too long. In stage 4, some items did not satisfy psychometric indicators such as internal consistency. Therefore, the instrument was adjusted to 36 items, improving the psychometric index [biserial correlation coefficient > 0.0, discrimination index > = 0, non-response index between 0-0.15, unidimensionality (p = 0.93)] and obtaining good internal consistency (KR = 0.81). In stage 5, the questionnaire was qualified with a percentile rank in three levels: low, medium, and high. Conclusions: the results from this study indicate an appropriate and validated survey, with adequate number of items and scale scores. All this despite the fact that antibiotic prescription by dentists is complex due other factors that determine this process.

Resumen Introducción: los estudios en otros países reportan una prescripción inadecuada de antibióticos por parte de los odontólogos. El objetivo de este estudio es validar un cuestionario para medir los conocimientos, actitudes y prácticas de los odontólogos del Meta respecto a la prescripción de antibióticos. Métodos: el estudio consistió en 5 fases: 1. Diseño del instrumento con grupo focal. 2. Validez de contenido con un panel de expertos. 3. Prueba piloto con siete odontólogos. 4. Aplicación de la encuesta a 98 odontólogos, donde se determinó la confiabilidad, los índices psicométricos y la unidimensionalidad de las preguntas 5. Construcción de escalas para uniformizar los resultados. Resultados: en las fases 1 y 2, se diseñó un instrumento con un nivel adecuado de concordancia por parte de expertos (W de Kendalle en suficiencia: 0.68, concordancia: 0.69, relevancia: 0.72 y claridad: 0.81). En la fase 3 se detectó que la encuesta estaba muy extensa. En la fase 4, algunos ítems no cumplieron con indicadores psicométricos como la consistencia interna. Por tanto, se ajustó el instrumento a 36 ítems que cumplieron con todos los indicadores psicométricos [(correlación biserial > 0.0, índice de discriminación > = 0, índice de no respuesta entre 0-0.15 y unidimensionalidad (p = 0.93)] y con una consistencia interna global buena (KR = 0.81). En la fase 5, se establecieron los niveles de calificación. Conclusiones: el cuestionario desarrollado en este estudio es válido en términos de confiabilidad, índices psicométricos y unidimensionalidad. Así mismo, presentó adecuados índices de no respuesta y de confiabilidad, y una escala sencilla de calificación.

Efecto del consumo de alcohol al diagnóstico en la sobrevida de pacientes con cirrosis hepática en un hospital universitario de la ciudad de Medellín / Effect of alcohol consumption on diagnosis of liver cirrhosis patients' survival at a University Hospital in Medellín

Resumen El consumo de alcohol es un conocido factor de riesgo para muerte prematura, morbilidad y discapacidad a nivel mundial. Los registros de la mortalidad que se asocian con el consumo de alcohol están fraccionados. El objetivo de este estudio fue escribir la mortalidad relacionada con la ingesta de alcohol en pacientes con cirrosis atendidos en un hospital universitario de la ciudad de Medellín. Materiales y métodos: se incluyeron 163 pacientes con diagnóstico de cirrosis, evaluados en la consulta externa de hepatología de un hospital de referencia en la ciudad de Medellín con 277 camas y seguimiento hasta el 2016. Se midieron variables sociodemográficas, paraclínicas y clínicas. Se consideró el consumo de alcohol al inicio del seguimiento. Se describió la supervivencia y las complicaciones asociadas con la cirrosis según el estado de consumidores vs. no consumidores de alcohol. Resultados: se siguieron 163 pacientes hasta diciembre del 2016, encontrando una mortalidad en el 51% en consumidores de alcohol vs. 39% en no consumidores (P = 0,19). Las complicaciones de la cirrosis en consumidores de alcohol fueron ascitis en 68% vs. 43% (P = 0,01) en el grupo sin consumo de alcohol, encefalopatía 40,6% vs. 13,5% (P = 0,00) y carcinoma hepatocelular (HCC) en 29% vs. 17% (P = 0,08). En el análisis por subgrupos, los pacientes con hepatitis C con consumo de alcohol tuvieron una mortalidad más alta comparado con los pacientes que no consumieron alcohol (OR 33, IC 95%: 1,06 a 1023). Conclusiones: a pesar que el consumo de alcohol no se relaciona con aumento de la mortalidad en pacientes con cirrosis en este estudio, sí se observa incremento de esta en ciertas poblaciones, como en el subgrupo de pacientes con hepatitis C.

Abstract Worldwide, alcohol consumption is a well-known risk factor for premature death, morbidity and disability. Records of mortality associated with alcohol consumption are not centralized. The aim of this study was to record the mortality rate associated with alcohol intake in patients with cirrhosis who were treated at a university hospital in the city of Medellin. Materials and methods: We included 163 patients who had been diagnosed with cirrhosis in the outpatient hepatology clinic of a 277 bed referral hospital in Medellín. Patients were monitored until 2016. Sociodemographic, paraclinical and clinical variables were measured. Alcohol consumption was considered at the beginning of the follow-up. Survival and complications associated with cirrhosis were described and recorded for patients who consumed alcohol as well as for those who did not, and then the two groups were compared. Results: One hundred sixty-three patients were followed until December 2016. The mortality rate among those who consumed alcohol was 51% while it was only 39% for those who did not consume alcohol (P = 0.19). Comparison of complications of cirrhosis showed that 68% of alcohol users developed ascites vs. 43% of non-consumers (P = 0.01); 40.6% of alcohol users developed encephalopathy vs. 13.5% of non-consumers (P = 0.00); and 29% of alcohol users developed hepatocellular carcinoma (HCC) vs. 17% of non-consumers (P = 0.08). In the subgroup analysis, patients with hepatitis C who consumed alcohol had a higher mortality rate than patients who did not consume alcohol (OR: 33, 95% CI: 1.06 to 1023). Conclusions: Although alcohol consumption was not related to increased mortality among patients with cirrhosis in this study, increased mortality was observed in the subgroup of patients with hepatitis C.

Analysis of enterococcus faecalis, staphylococcus aureus, and candida albicans in cast metal cores / Análisis de enterococcus faecalis, staphylococcus aureus y candida albicans en núcleos colados en metal base

ABSTRACT. Introduction: all dental treatments should strictly follow aseptic protocols in order to reduce failure, especially when performing endodontic procedures. Despite being a key recommendation in this type of interventions, this statement is generally ignored, as students and clinicians tend to neglect the sterilization of posts prior to their use. To raise awareness on this practice, the objective of this study was to demonstrate the presence of microorganisms that cause failure, such as Enterococcus faecalis, Staphylococcus aureus and Candida albicans, in non-sterile cores. Methods: during the first half of 2016, fabricated cast cores were collected in the dental clinics of Universidad Cooperativa de Colombia at Villavicencio. The cores were immersed in saline solution making dilutions to up to 10-4, and finally inserted in duplicate into differential mediums for the microorganisms under study. The candidate colonies were then quantified and selected for the microorganisms under study, performing identification and confirmation in a certified clinical laboratory. Results: the presence of E. faecalis was detected in one of the cores (3.2%) used in the clinic, quantified in 5x104 CFU/ml. The presence of S. aureus or C. albicans was not identified, but other microorganisms were found, such as Candida parapsilopsis (35.5%), Candida tropicalis (6.5%), Kokuria kristinae (16.1%), Staphylococcus saprophyticus (12.9%) and Stenotrophomona maltophilia (3.2%). Conclusion: out of the microorganisms analyzed in this study, only E. faecalis was identified. However, other microorganisms associated with endodontic failure or other type of complications were identified.

RESUMEN. Introducción: el tratamiento odontológico debe considerar rigurosamente la cadena de asepsia para reducir el fracaso, incluso cuando se realizan procedimientos endodónticos. A pesar de ser una recomendación clave en este tipo de intervenciones, esta afirmación no tiene el suficiente alcance, debido a que algunos estudiantes y profesionales no consideran la esterilización de los núcleos antes de utilizarlos. Para generar conciencia en torno a esta práctica, el objetivo de este estudio consistió en demostrar la presencia de microorganismos desencadenantes del fracaso, como Enterococcus faecalis, Staphylococcus aureus y Candida albicans, en los núcleos sin esterilizar. Métodos: de las clínicas odontológicas de la Universidad Cooperativa de Colombia, sede Villavicencio, se recolectaron núcleos colados fabricados durante el primer semestre de 2016. Los núcleos fueron colocados en solución salina y se realizaron diluciones hasta 10-4, para finalmente sembrarlas por duplicado en medios diferenciales para los microorganismos objeto de estudio. Posteriormente se cuantificaron y seleccionaron las colonias candidatas para los microorganismos estudiados y se realizó la identificación y confirmación en un laboratorio clínico certificado. Resultados: en uno de los núcleos utilizados en la clínica se detectó la presencia de E. faecalis (3,2%), cuantificado en 5x104 UFC/ml. No se identificó la presencia de S. aureus ni C. albicans, pero se encontraron otros microorganismos, como Candida parapsilopsis (35,5%), Candida tropicalis (6,5%), Kokuria kristinae (16,1%), Staphylococcus saprophyticus (12,9%) y Stenotrophomona maltophilia (3,2%). Conclusión: de los microorganismos analizados en este estudio, solo se identificó la presencia de E. faecalis. Sin embargo, se identificaron otros microorganismos asociados al fracaso endodóntico o a otro tipo de complicaciones.

Cumplimiento de las actividades de promoción y prevención en el control prenatal en una entidad de 1° nivel, Manizales, años 2005-2007 / Fulfillment of the Activities of Promotion and Prevention in the Prenatal Control in a First Level Entity, Manizales, years 2005-2007

Introducción: Control prenatal es el cuidado de la salud de la madre y el feto y persigue obtener un producto y madre sanos. Investigar sobre el tema, redunda en beneficios para la institución y para la comunidad. Materiales y métodos: Estudio trasversal realizado en una Institución Prestadora de Servicios de Salud Pública de Manizales (Caldas-Colombia), durante 3 años. Pretende cuantificar y cualificar las acciones de Promoción y Prevención que se ejecutan en las gestantes asistentes al control prenatal de esta institución. Resultados: Se encontró que entre 18-34 años fue la mayor población atendida con un 78.9%. La valoración que con más frecuencia se realizó fue la obstétrica con un 98.4% y el paraclínico parcial de orina se hizo a 98.8%, siendo oportuno en el 39.8% Se obtuvo una madre sana en el 98.8% y un producto sano en el 96% de los casos. La adherencia al control prenatal fue de 62.5%. Conclusiones: Se sugiere incluir en la historia clínica del Centro Latinoamericano de Perinatología las casillas para la glicemia, curso sicoprofiláctico y proteinuria. Las casillas destinadas a estreptococo beta y pelviana versión externa, no son diligenciadas. La adherencia al control por parte de las gestantes (62.5%) debe incrementarse. ASSBASALUD ESE, brinda servicios de calidad reconocida, por su presencia cercana a la comunidad, por su organización bien estructurada, por contar con funcionarios capacitados y porque destina recursos suficientes para cumplir sus metas, persiguiendo ante todo ganancia y bienestar social.

Estudio de factores genéticos para cáncer de mama en Colombia / Breast cancer risk factors in Colombia

El cáncer de mama es uno de los principales problemas de salud y, aproximadamente, 10% de los casos son de origen genético. En un estudio previo realizado por nosotros, se encontraron mutaciones fundadoras en los genes BRCA1 y BRCA2; esto permite trazar estrategias de detección temprana para personas con alta susceptibilidad en Colombia e implementar medidas profilácticas. El objetivo de este estudio fue estimar el componente genético del cáncer de mama en Colombia, mediante el estudio de la frecuencia y penetrancia de las mutaciones germinales en BRCA1 y BRCA2. Se estudiaron 766 pacientes que cumplieron el criterio de habérseles diagnosticado cáncer de mama después de 2004 y se realizaron estudios moleculares para las mutaciones fundadoras. Se entregaron los resultados a las pacientes y se analizaron los datos para frecuencia y penetrancia. La frecuencia total para mutaciones fundadoras para BRCA1 y BRCA2 fue de 4,2% (IC95% 2,9-5,8), y la penetrancia a los 50 años fue de 33,3 (IC95% 15,2-63,1) para BRCA1 y de 32 (IC95%11,8-70,9) para BRCA2 La alta frecuencia de mutaciones justifica la necesidad de ofrecer este tipo de examen a mujeres con cáncer de mama, independientemente de los antecedentes.Es necesario ampliar los estudios para realizar cálculos de penetrancia a los 70 años...

Breast cancer is one of the main public health problems, approximately 10% are genetic. In a previous study carried out by our group, founder mutations in BRCA1 and BRCA2 genes were detected; this will allow early testing and detection of patients with high breast and ovarian cancer susceptibility in Colombia, and to implement prophylactic strategies. The aim of this study was to estimate the genetic component of breast cancer in Colombia, testing for the frequency and penetrance of germinal mutations in BRCA1 and BRCA2. 766 patients fulfilling the criteria of breast cancer diagnosis after 2004 were studied for founder mutations. The results were reported to the patients; frequency and penetrance were tested. Total frequency for founder mutations in BRCA1 and BRCA2 was 4.2% (CI 95%: 2.9-5.8), and penetrance at 50 years was 33, 3(CI 95%: 15.2 - 63.1) for BRCA1 and 32(CI 95%:11.8 - 70.9) for BRCA2. The high frequency of the mutations supports the need to implement genetic testing policy for patients with breast cancer independently of family history or age. It is necessary to continue the study to perform penetrance testing at the 70 year limit...

Diabetes infantil tipo I: frecuencia, manifestaciones clínicas, diagnóstico y tratamiento: Hospital Regional Honorio Delgado de Arequipa, 1976 a 1994

Se realizó un análisis de la frecuencia, cuadro clínico, diagnóstico y manejo de 12 pacientes diagnosticados de Diabetes infantil tipo I; se encontró que la edad de inicio promedio es de 10.41 años y es más frecuente entre los 10 y los 14 años. No se encontró diferencia significativa en relación al sexo. La mayoría de pacientes era de la zona urbana. La prevalencia encontrada fue de 0.23 x 1000 niños para el periodo de 1976 a 1994. Se encontró antecedentes de enfermedad viral en el 25 por ciento de los pacientes. El 41.67 por ciento tenia por lo menos un familiar diabético. El cuadro clínico se caracterizó principalmente por astenia, poliuria y polidipsia. Los criterios diagnósticos que más se tuvieron en cuenta fueron el cuadro clínico, los valores de glicemia y cuerpos cetónicos. El 100 por ciento de los pacientes recibió insulinoterapia, se encontró que la más utilizada fue la insulina cristalina. A todos los pacientes se les indicó dieta y se les brindó educación sanitaria. El 75 por ciento inició la enfermedad como cetoacidosis diabética. El 25 por ciento no presento complicaciones. El 50 por ciento de los pacientes presentó infecciones. No hubo predominio de ningún tipo de infección. El 25 por ciento del total presentó complicaciones a la insulinoterapia