Complicaciones de la preeclampsia severa y su relación con variables demográficas y obstétricas

Introducción: La preeclampsia severa es una de las principales patologías que afectan a las mujeres embarazadas, sus complicaciones tienen un alto impacto en la salud del binomio madre-hijo. Materiales y métodos: Se realizo una serie de casos, durante un periodo de 1 año se revisaron las historias clínicas de las pacientes que ingresaron a la unidad de cuidado intensivo obstétrico de la Clínica Orquídeas, con diagnóstico de preeclampsia severa. Se describieron los datos demográficos y las complicaciones. Se realizó análisis univariado con las variables de interés y se calcularon diferencias significativas por medio del test exacto de Fisher. Resultados: Se registraron 196 pacientes con preeclampsia severa en el periodo de estudio. Las complicaciones mas frecuentes fueron síndrome HELLP (30,6%), insuficiencia renal aguda (16,3%) y edema pulmonar (10,2%); el ingreso de las pacientes con preeclampsia severa a la UCIO en embarazo aumenta el riesgo de sufrir complicaciones. El síndrome de HELLP se presento con mayor frecuencia en pacientes que realizaron 6 o mas controles prenatales (p=0.066). Discusión: Los resultados evidencian una prevalencia de preeclampsia severa mayor que la observada por otros autores, probablemente por ser una UCI exclusivamente obstétrica. Las complicaciones mas frecuentes son concordantes con otros estudios publicados. El mayor riesgo de complicaciones asociadas en pacientes que ingresan embarazadas a la UCIO podría estar en relación a la severidad de la patología. Se requieren estudios analíticos para establecer asociaciones entre cada una de las complicaciones y sus factores condicionantes.

Ataxias heredodegenerativas

Descripción de las ataxias heredodegenerativas con énfasis en la semiología general de este tipo de enfermedades y la fisiopatología de los grandes grupos de ataxias.

Desenlaces maternos y fetales en el manejo expectante de la preeclampsia lejos del término

Introducción La preeclampsia hace parte del espectro de los trastornos hipertensivos asociados al embarazo y es causa de alta morbimortalidad materna. La edad gestacional ha sido relacionada con la presentación más severa de esta cuando ocurren lejanas al término. Hoy en día existe la posibilidad de proporcionar manejo expectante en estos casos en unidades de cuidado obstétrico especializadas, con el fin de disminuir el riesgo de morbimortalidad asociada a la prematurez extrema. Metodología Se realizó un estudio de corte transversal que incluyó pacientes con preeclampsia lejos del término entre las 24 y 34 semanas que recibieron manejo expectante entre 2009 y 2012 en la Unidad de Cuidado Intensivo Obstétrico de la Clínica Colsubsidio Orquídeas. Resultados Se incluyeron 121 pacientes con preeclampsia lejos del término, quienes recibieron manejo expectante. La edad promedio fue 29.8, el promedio de días de manejo expectante fue 4 días, con una mediana de tres días. La edad gestacional de ingreso fue 30 1/7 semanas y la edad promedio de terminación 30 5/7 semanas. El 88.4% recibieron esquema de maduración completo. El 81.6% presentaron preeclampsia severa. El desenlace materno más frecuente fue Síndrome Hellp (37%) y el desenlace fetal fue restricción de crecimiento intrauterino (29%). Discusión Se debe considerar el manejo expectante en toda paciente con preeclampsia previa a la semana 34 para manejo antenatal con corticoesteroides, el cual demostró ser un factor protector para muerte perinatal temprana. No se encontraron diferencias significativas entre la aparición de complicaciones y la cantidad de días de manejo expectante.

Detección de mutaciones en el gen park2 en pacientes con enfermedad de Parkinson de inicio temprano en población colombiana

Introducción: La Enfermedad de Parkinson (EP) fue descrita por primera vez por James Parkinson en 1817, es el segundo desorden neurodegenerativo más frecuente después de la enfermedad de Alzheimer. Los síntomas aparecen por una deficiencia de dopamina causada por la degeneración y perdida de las neuronas dopaminérgicas en diversas regiones del cerebro, principalmente la sustancia nigra. Se sabe actualmente que existen factores genéticos involucrados en el desarrollo de la enfermedad, principalmente en la EP de inicio temprano. Uno de los genes, que según diversos reportes ha sido frecuentemente implicado con el desarrollo de la enfermedad es el gen PARK2 o PRKN que codifica para la proteína Parkina, una proteína de 465 aminoácidos. Se conoce que la proteína Parkina tiene función de ligasa de las proteínas ubiquitinadas; las mutaciones que se han podido identificar en Parkina llevan a la pérdida de su función, reduciendo su capacidad de regular la degradación de sustratos. Metodología: Se realizó un estudio observacional descriptivo de tipo cross sectional.Para ello se evaluaron 29 pacientes diagnosticados con EP de inicio temprano (anterior a los 40 años de edad) y de 21 individuos sanos que se utilizaron como control. Se tomó una muestra de sangre periférica a los pacientes y controles, y se procedió a realizar la extracción de DNA. Posteriormente se estandarizaron las condiciones para la técnica de PCR para la amplificación de los exones 3, 4, y 5 en cada individuo. Todos los productos amplificados se sometieron a secuenciación automática para evaluar posibles mutaciones y polimorfismos en la población de estudio.

Prevalencia de síntomas osteomusculares en miembros superiores en trabajadores de un call center de Bogotá – Colombia durante el año 2015

Introducción: Los trastornos del aparato locomotor son una de las principales causas del ausentismo laboral y generan un gasto considerable para el sistema de gestión pública. Objetivo: Determinar la prevalencia de síntomas osteomusculares en miembros superiores y su relación con los factores ocupacionales en trabajadores de un Call Center de Bogotá – Colombia durante el año 2015. Metodología: Estudio de corte transversal donde se evaluó la prevalencia de los síntomas osteomusculares de miembros superiores, se utilizó como instrumento el ERGOPAR validado en España . Resultados: El grupo de estudio lo conformaron 223 trabajadores de un Call Center donde el género femenino fue el más frecuente (66,8%), el grupo etario predominante fue entre 21 y 25 años (30,5%). La prevalencia de los síntomas osteomusculares por molestia estimada, fue mayor en cuello/hombro (57%), seguido del síntoma en manos/muñecas (40,8%) y por ultimo codos (17%); contrario a la prevalencia de síntomas osteomusculares manifestados por dolor ya que fue mayor en manos/muñecas (35%), seguido de cuello/hombros (28,3%) y por último codo (6,7%), esta prevalencia fue mayor en trabajadores de género femenino que en los de género masculino. Respecto a las variables relacionadas con el género, se encontró que la prevalencia por presencia de dolor en cuello/hombro fue mayor en trabajadores de género femenino (p=0,005) de la misma manera que la prevalencia por presencia de dolor en manos/muñecas (p<0,001). Conclusiones: Los síntomas osteomusculares más prevalentes en los trabajadores del Call Center fueron en cuello/hombro y manos/muñeca con mayor frecuencia en los trabajadores del género femenino. Con el fin de eliminar o disminuir la aparición temprana de estos síntomas, se recomienda la implementación de medidas de prevención dirigidas no solo al trabajador sino a todos los factores que hagan parte del desarrollo de su tarea.

Ativação do sistema renina-angiotensina-aldosterona em cães assintomáticos com doença mixomatosa valvular mitral

As doenças cardíacas são um achado frequente na prática clínica. Saber se pacientes assintomáticos com doença mixomatosa da válvula mitral necessitam ou não de medicação numa fase inicial da doença não é tarefa fácil. A ativação neuro-hormonal, apesar de ter um efeito benéfico compensatório a curto prazo, torna-se deletéria a longo prazo, sendo que para isso é necessária intervenção farmacológica para inibir a sua atividade O SRAA (sistema renina angiotensina aldosterona) tem importantes mecanismos patofisiológicos implicados no desenvolvimento da insuficiência cardíaca congestiva e tem como produto final a aldosterona, que contribui para a remodelagem cardíaca. Neste trabalho verifiquei a inexistência de uma diferença significativa de valores de aldosterona sérica de cães assintomáticos com Doença Mixomatosa Valvular Mitral (estadio B2 da classificação ACVIM) e os valores do intervalo de referência desta hormona. Concluí também não haver relação entre a idade, ureia, creatinina, rácio Proteina-Creainina, Pressões arteriais sistólica, média e diastólica, frequência de pulso, parâmetros de remodelagem cardíaca e padrão do fluxo transmitral com os valores da aldosterona medidos. É através da evidência destes achados que sugiro a não instituição de um IECA neste tipo de pacientes. O uso precoce de IECA pode não só não trazer vantagens terapêuticas nesta fase da doença como também vai promover o aparecimento precoce de fenómenos de “escape da aldosterona”.

Weaning preterm infants: a randomised controlled trial

Objective: To assess the effect on growth and iron status in preterm infants of a specially devised weaning strategy compared with current best practices in infant feeding. The preterm weaning strategy recommended the early onset of weaning and the use of foods with a higher energy and protein content than standard milk formula, and foods that are rich sources of iron and zinc. Subjects and design: In a blinded, controlled study, 68 preterm infants (mean (SD) birth weight 1470 (430) g and mean (SD) gestational age 31.3 (2.9) weeks) were randomised to either the preterm weaning strategy group (n = 37) or a current best practice control group (n = 31), from hospital discharge until 1 year gestation corrected age (GCA). Main outcome measures: Weight, supine length, occipitofrontal head circumference, and intakes of energy, protein, and minerals were determined at 0, 6, and 12 months GCA. Levels of haemoglobin, serum iron, and serum ferritin were assayed at 0 and 6 months GCA. Results: Significant positive effects of treatment included: greater increase in standard deviation length scores and length growth velocity; increased intake of energy, protein, and carbohydrate at 6 months GCA and iron at 12 months GCA; increased haemoglobin and serum iron levels at 6 months GCA. Conclusions: The preterm weaning strategy significantly influenced dietary intakes with consequent beneficial effects on growth in length and iron status. This strategy should be adopted as the basis of feeding guidelines for preterm infants after hospital discharge. School of Applied Statistics Faculty of Life Sciences

Psychiatric disorders in children with autism spectrum disorders: prevalence, comorbidity, and associated factors in a population-derived sample

Objective: Autism spectrum disorders are now recognized to occur in up to 1% of the population and to be a major public health concern because of their early onset, lifelong persistence, and high levels of associated impairment. Little is known about the associated psychiatric disorders that may contribute to impairment. We identify the rates and type of psychiatric comorbidity associated with ASDs and explore the associations with variables identified as risk factors for child psychiatric disorders. Method: A subgroup of 112 ten- to 14-year old children from a population-derived cohort was assessed for other child psychiatric disorders (3 months' prevalence) through parent interview using the Child and Adolescent Psychiatric Assessment. DSM-IV diagnoses for childhood anxiety disorders, depressive disorders, oppositional defiant and conduct disorders, attention-deficit/hyperactivity disorder, tic disorders, trichotillomania, enuresis, and encopresis were identified. Results: Seventy percent of participants had at least one comorbid disorder and 41% had two or more. The most common diagnoses were social anxiety disorder (29.2%, 95% confidence interval [CI)] 13.2-45.1), attention-deficit/hyperactivity disorder (28.2%, 95% CI 13.3-43.0), and oppositional defiant disorder (28.1%, 95% CI 13.9-42.2). Of those with attention/deficit/hyperactivity disorder, 84% received a second comorbid diagnosis. There were few associations between putative risk factors and psychiatric disorder. Conclusions: Psychiatric disorders are common and frequently multiple in children with autism spectrum disorders. They may provide targets for intervention and should be routinely evaluated in the clinical assessment of this group.

Processing of wh-questions in a case of posterior cortical atrophy

Posterior cortical atrophy (PCA) is a type of dementia that is characterized by visuo-spatial and memory deficits, dyslexia and dysgraphia, relatively early onset and preserved insight. Language deficits have been reported in some cases of PCA. Using an off-line grammaticality judgement task, processing of wh-questions is investigated in a case of PCA. Other aspects of auditory language are also reported. It is shown that processing of wh-questions is influenced by syntactic structure, a novel finding in this condition. The results are discussed with reference to accounts of wh-questions in aphasia. An uneven profile of other language abilities is reported with deficits in digit span (forward, backward), story retelling ability, comparative questions but intact abilities in following commands, repetition, concept definition, generative naming and discourse comprehension.

A genome-wide association meta-analysis identifies new childhood obesity loci

Multiple genetic variants have been associated with adult obesity and a few with severe obesity in childhood; however, less progress has been made in establishing genetic influences on common early-onset obesity. We performed a North American, Australian and European collaborative meta-analysis of 14 studies consisting of 5,530 cases (≥95th percentile of body mass index (BMI)) and 8,318 controls (<50th percentile of BMI) of European ancestry. Taking forward the eight newly discovered signals yielding association with P < 5 × 10(-6) in nine independent data sets (2,818 cases and 4,083 controls), we observed two loci that yielded genome-wide significant combined P values near OLFM4 at 13q14 (rs9568856; P = 1.82 × 10(-9); odds ratio (OR) = 1.22) and within HOXB5 at 17q21 (rs9299; P = 3.54 × 10(-9); OR = 1.14). Both loci continued to show association when two extreme childhood obesity cohorts were included (2,214 cases and 2,674 controls). These two loci also yielded directionally consistent associations in a previous meta-analysis of adult BMI(1).

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson`s Disease

Background Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher`s disease, among patients with Parkinson`s disease. We aimed to ascertain the frequency of GBA mutations in an ethnically diverse group of patients with Parkinson`s disease. Methods Sixteen centers participated in our international, collaborative study: five from the Americas, six from Europe, two from Israel, and three from Asia. Each center genotyped a standard DNA panel to permit comparison of the genotyping results across centers. Genotypes and phenotypic data from a total of 5691 patients with Parkinson`s disease (780 Ashkenazi Jews) and 4898 controls (387 Ashkenazi Jews) were analyzed, with multivariate logistic-regression models and the Mantel-Haenszel procedure used to estimate odds ratios across centers. Results All 16 centers could detect two GBA mutations, L444P and N370S. Among Ashkenazi Jewish subjects, either mutation was found in 15% of patients and 3% of controls, and among non-Ashkenazi Jewish subjects, either mutation was found in 3% of patients and less than 1% of controls. GBA was fully sequenced for 1883 non-Ashkenazi Jewish patients, and mutations were identified in 7%, showing that limited mutation screening can miss half the mutant alleles. The odds ratio for any GBA mutation in patients versus controls was 5.43 across centers. As compared with patients who did not carry a GBA mutation, those with a GBA mutation presented earlier with the disease, were more likely to have affected relatives, and were more likely to have atypical clinical manifestations. Conclusions Data collected from 16 centers demonstrate that there is a strong association between GBA mutations and Parkinson`s disease.

Microbiological diversity of generalized aggressive periodontitis by 16S rRNA clonal analysis

Background/aim: The purpose of this study was to determine the bacterial diversity in the subgingival plaque of subjects with generalized aggressive periodontitis by using culture-independent molecular methods based on 16S ribosomal DNA cloning. Methods: Samples from 10 subjects with generalized aggressive periodontitis were selected. DNA was extracted and the 16S rRNA gene was amplified with the universal primer pairs 9F and 1525R. Amplified genes were cloned, sequenced, and identified by comparison with known 16S rRNA sequences. Results: One hundred and ten species were identified from 10 subjects and 1007 clones were sequenced. Of these, 70 species were most prevalent. Fifty-seven percent of the clone (40 taxa) sequences represented phylotypes for which no cultivated isolates have been reported. Several species of Selenomonas and Streptococcus were found at high prevalence and proportion in all subjects. Overall, 50% of the clone libraries were formed by these two genera. Selenomonas sputigena, the species most commonly detected, was found in nine of 10 subjects. Other species of Selenomonas were often present at high levels, including S. noxia, Selenomonas sp. EW084, Selenomonas sp. EW076, Selenomonas FT050, Selenomonas sp. P2PA_80, and Selenomonas sp. strain GAA14. The classical putative periodontal pathogens, such as, Aggregatibacter actinomycetemcomitans, was below the limit of detection and was not detected. Conclusion: These data suggest that other species, notably species of Selenomonas, may be associated with disease in generalized aggressive periodontitis subjects.

Genetic diversity and toxic activity of Aggregatibacter actinomycetemcomitans isolates

Introduction: Very little is known of the diversity and expression of virulence factors of serotypes of Aggregatibacter actinomycetemcomitans. Toxic activity on Chinese hamster ovary (CHO) cells and cdt and ltx genotyping were evaluated in A. actinomycetemcomitans serotypes. Methods: Forty-one A. actinomycetemcomitans isolates were analysed for CHO cell growth inhibition. Genotyping was performed by polymerase chain reactions specific to the ltx promoter region, serotype-specific and cdt region and by sequencing of cdtB. Results: cdtABC was detected in 40 strains. Analysis of the cdtA upstream region revealed 10 cdt genotypes. Toxicity to CHO cells was detected for 92.7% of the isolates; however, no correlation between the toxic activity and the cdt genotype was detected. Serotype c was more prevalent among Brazilian samples (68.0%). Four serotype b isolates from subjects with aggressive periodontitis were associated with high leukotoxin production and exhibited moderate to strong toxic activity in CHO cells, but were classified in different cdt genotypes. High levels of toxicity in CHO cells were not associated with a particular serotype; 57.1% of serotype a isolates presented low toxicity to CHO cells whereas the highly toxic strains belonged to serotypes b and c. Sequencing of cdtB revealed a single nucleotide polymorphism of amino acid 281 but this was not related to the toxic activity in CHO cells. Conclusion: Differences in prevalence of the low and highly cytotoxic strains among serotypes reinforce the hypothesis that serotype b and c isolates of A. actinomycetemcomitans are more virulent than serotype a strains.

Microbiological profile of untreated subjects with localized aggressive periodontitis

Aim The microbial profile of localized aggressive periodontitis (LAgP) has not yet been determined. Therefore, the aim of this study was to evaluate the subgingival microbial composition of LAgP. Material and Methods One hundred and twenty subjects with LAgP (n=15), generalized aggressive periodontitis (GAgP, n=25), chronic periodontitis (ChP, n=30) or periodontal health (PH, n=50) underwent clinical and microbiological assessment. Nine subgingival plaque samples were collected from each subject and analysed for their content of 38 bacterial species using checkerboard DNA-DNA hybridization. Results Red complex and some orange complex species are the most numerous and prevalent periodontal pathogens in LAgP. The proportions of Aggregatibacter actinomycetemcomitans were elevated in shallow and intermediate pockets of LAgP subjects in comparison with those with GAgP or ChP, but not in deep sites. This species also showed a negative correlation with age and with the proportions of red complex pathogens. The host-compatible Actinomyces species were reduced in LAgP. Conclusion A. actinomycetemcomitans seems to be associated with the onset of LAgP, and Porphyromonas gingivalis, Tannerella forsythia, Treponema denticola, Campylobacter gracilis, Eubacterium nodatum and Prevotella intermedia play an important role in disease progression. Successful treatment of LAgP would involve a reduction in these pathogens and an increase in the Actinomyces species.

Prevalência da infecção por papilomavírus humano, herpes simplex tipo 1 e 2 e Chlamydia trachomatis em um segmento da população feminina da grande Natal/RN

Sexually transmitted diseases (STDs) are among the largest public health problems, especially in developing countries. The acquisition of these infections during early sexual activity is common and many infections have a benign course. However, in some pathogens remain in the state of latency can be reactivated and cause productive infection that may progress to severe forms. In addition, some of them are transmitted vertically resulting in congenital infection, causing immediate damage or long-term child. The classic risk factors for sexually transmitted agents are: early onset of sexual and reproductive health, multiple sexual partners throughout life, use of oral contraceptives and co-infections with different pathogens. We present the results of a cross-sectional study aimed to estimate the prevalence of genital infection by human papillomavirus (HPV), Herpes simplex virus (HSV) and Chlamydia trachomatis (CT) in a segment of the female population of the metropolitan area Christmas, among those who enrolled voluntarily sought, Basic Health Units for the examination of cancer screening cervix in the period 2008 to 2010. All participants, a total of 261 women answered a standard questionnaire by which identified the socio-demographic characteristics, classical risk factors for STDs, reproductive and sexual activity and smoking. Of each patient were obtained two samples, one for the completion of the Pap test for detection of cellular changes and the other processed for DNA extraction and analyzed by PCR (polymerase chain reaction) to detect the three pathogens studied. The population of the study was composed of sexually active women aged between 13 and 79 years, mean 38.7 years, most of them being married, low education levels and low incomes. The majority (87%) had normal results on cytology and only 2.7% had low-grade cytological abnormalities. Prevalence rates were 37.9% for HPV, 4.6% for CT and 26% for HSV. HPV prevalence was higher in women under 25, unmarried and in those who had multiple sexual partners. Women with simultaneous infection by HSV-1 and 2 had higher prevalence of HPV infection. The prevalence of HSV infection showed no association whatsoever with the risk factors analyzed and HSV-1 was the predominant type among the cases of genital HSV infection. The overall prevalence of C. Trachomatis was relatively low, thus providing greater value in younger women aged less than or equal to 20 years