Uso de PCR digital para definir terapéuticas específicas y seguimiento en enfermedades autoinflamatorias / Use of digital PCR to define specific therapeutics and follow-up in autoinflammatory diseases

Las enfermedades autoinflamatorias (AIDs) son un grupo heterogéneo de desórdenes monogénicos o poligénicos, con características de disregulación inmune innata y/o adaptativa, cuyo mecanismo central es la autoinflamación pero también pueden presentarse con autoinmunidad e inmunodeficiencia. En estos últimos años el desarrollo de las tecnologías de secuenciación masiva han provocado una explosión en el descubrimiento de nuevos genes responsables de AIDs monogénicas. Esto remarca la importancia de implementar este tipo de estudios para llegar a un diagnóstico definitivo sobre todo en este grupo de patologías genéticamente muy diversas donde los fenotipos clínicos se solapan. Sin embargo, dada la presencia de variantes de significación incierta (VUS), los resultados pueden no ser concluyentes planteándose la necesidad de desarrollar pruebas funcionales para determinar la patogenicidad de dichas variantes genéticas. En nuestro grupo de trabajo estamos aplicando la PCR digital en gotas (ddPCR), una técnica cuantitativa de 3era generación altamente sensible, especifica y reproducible que no necesita de curvas de calibración, para desarrollar pruebas funcionales que permitan no sólo reclasificar variantes VUS para lograr diagnósticos definitivos sino también estudiar los mecanismos responsables de las principales AIDs que permitan una estratificación de las terapéuticas especificas a aplicar y de esta manera poder contribuir al diagnóstico, tratamiento y seguimiento de nuestros pacientes en forma personalizada. (AU)

Autoinflammatory diseases (AIDs) are a heterogeneous group of monogenic or polygenic disorders, with characteristics of inborn and/or adaptive immune dysregulation, whose central mechanism is autoinflammation but may also present with autoimmunity and immunodeficiency. In recent years the development of massive sequencing technologies has led to an exponential increase in the discovery of new genes responsible for monogenic AIDs. This emphasizes the importance of the implementation of this type of studies to make a definitive diagnosis, especially in this group of genetically very diverse diseases with overlapping clinical phenotypes. However, given the presence of variants of uncertain significance (VUS), the results may not be conclusive, raising the need to develop functional tests to determine the pathogenicity of these genetic variants. In our working group we are applying droplet digital PCR (ddPCR), a highly sensitive, specific and reproducible third generation quantitative technique that does not require calibration curves, to develop functional tests that allow not only to reclassify VUS variants to achieve definitive diagnoses but also to study the mechanisms responsible for the main AIDs that allow for the stratification of specific treatments to be used and thereby contribute to the individualized diagnosis, treatment, and follow-up of our patients (AU)

[Mortality rate after a hip fracture in a low-income population in an orthopedic training hospital]. / Tasa de mortalidad después de una fractura de cadera en población con bajos ingresos económicos, en un hospital de entrenamiento ortopédico.

INTRODUCTION: Hip fracture are an important cause of morbidity and mortality in old patients. The one-year mortality after a hip fracture increase between 14 to 47%. The main objective was to analyze the risk factors associated with mortality after a hip fracture in a low-income population. MATERIAL AND METHODS: Retrospective study of patients with traumatic hip fracture in a four-year period in an orthopedic training hospital. The data collected was age, gender, Charlson comorbidity index (CCI), delay time in days for surgery, duration in hours for surgical procedure, transfusion. Two groups were analyzed, alive patients and deceased patients. RESULTS: A total of 96 patients with traumatic hip fracture was analyzed. Mortality rate in the first year was pf 16.6%, and at the end of the follow-up was 32.2%. The alive patients showed better values of CCI with a value of 4.2 ± 1.1 versus 5.2 ± 1.0 in the deceased patients. When compared delay time for surgery and duration of surgical procedure did not observe significant difference between patients alive and deceased. CONCLUSION: The delay time of surgery did not affect the mortality after a traumatic hip fracture in old patients with economic low-income.

INTRODUCCIÓN: Las fracturas de cadera representan una causa importante de morbimortalidad en los adultos mayores. La mortalidad a un año posterior a una fractura de cadera incrementa entre 14 y 47%. El objetivo de este estudio fue analizar los factores de riesgo que impactan la tasa de mortalidad posterior a una fractura de cadera en una población de bajos recursos. MATERIAL Y MÉTODOS: Se analizaron de manera retrospectiva pacientes con fractura de cadera traumática en un período de cuatro años en un hospital universitario con entrenamiento ortopédico. Los datos recolectados incluyeron edad, género, índice de comorbilidad de Charlson (CCI), tiempo en días para la cirugía y duración del procedimiento quirúrgico, así como necesidad de transfusión. Se analizaron dos grupos, pacientes vivos y pacientes fallecidos. RESULTADOS: Se evaluó un total de 96 adultos mayores con fractura de cadera. La tasa de mortalidad durante el primer año fue de 16.6%, mientras que al final del seguimiento fue de 32.2%. El grupo de sobrevivientes presentó una mejor evaluación de acuerdo con el CCI con valor de 4.2 ± 1.1 versus 5.2 ± 1.0 en los pacientes fallecidos. No se encontró diferencia estadísticamente significativa en la mortalidad entre ambos grupos al comparar los días de espera de tiempo quirúrgico y la duración de la cirugía. CONCLUSIÓN: El retraso de la cirugía no afecta la tasa de mortalidad después de una fractura de cadera en pacientes de edad avanzada con bajo ingreso económico.

Tasa de mortalidad después de una fractura de cadera en población con bajos ingresos económicos, en un hospital de entrenamiento ortopédico / Mortality rate after a hip fracture in a low-income population in an orthopedic training hospital

Resumen: Introducción: Las fracturas de cadera representan una causa importante de morbimortalidad en los adultos mayores. La mortalidad a un año posterior a una fractura de cadera incrementa entre 14 y 47%. El objetivo de este estudio fue analizar los factores de riesgo que impactan la tasa de mortalidad posterior a una fractura de cadera en una población de bajos recursos. Material y métodos: Se analizaron de manera retrospectiva pacientes con fractura de cadera traumática en un período de cuatro años en un hospital universitario con entrenamiento ortopédico. Los datos recolectados incluyeron edad, género, índice de comorbilidad de Charlson (CCI), tiempo en días para la cirugía y duración del procedimiento quirúrgico, así como necesidad de transfusión. Se analizaron dos grupos, pacientes vivos y pacientes fallecidos. Resultados: Se evaluó un total de 96 adultos mayores con fractura de cadera. La tasa de mortalidad durante el primer año fue de 16.6%, mientras que al final del seguimiento fue de 32.2%. El grupo de sobrevivientes presentó una mejor evaluación de acuerdo con el CCI con valor de 4.2 ± 1.1 versus 5.2 ± 1.0 en los pacientes fallecidos. No se encontró diferencia estadísticamente significativa en la mortalidad entre ambos grupos al comparar los días de espera de tiempo quirúrgico y la duración de la cirugía. Conclusión: El retraso de la cirugía no afecta la tasa de mortalidad después de una fractura de cadera en pacientes de edad avanzada con bajo ingreso económico.

Abstract: Introduction: Hip fracture are an important cause of morbidity and mortality in old patients. The one-year mortality after a hip fracture increase between 14 to 47%. The main objective was to analyze the risk factors associated with mortality after a hip fracture in a low-income population. Material and methods: Retrospective study of patients with traumatic hip fracture in a four-year period in an orthopedic training hospital. The data collected was age, gender, Charlson comorbidity index (CCI), delay time in days for surgery, duration in hours for surgical procedure, transfusion. Two groups were analyzed, alive patients and deceased patients. Results: A total of 96 patients with traumatic hip fracture was analyzed. Mortality rate in the first year was pf 16.6%, and at the end of the follow-up was 32.2%. The alive patients showed better values of CCI with a value of 4.2 ± 1.1 versus 5.2 ± 1.0 in the deceased patients. When compared delay time for surgery and duration of surgical procedure did not observe significant difference between patients alive and deceased. Conclusion: The delay time of surgery did not affect the mortality after a traumatic hip fracture in old patients with economic low-income.

Correlation between obesity and severity of distal radius fractures.

INTRODUCTION: The incidence of obesity has increased significantly worldwide. Our hypothesis was that patients with obesity have a more severe distal radius fracture and we realized a study to evaluate this correlation between obesity and severity of distal radius fractures caused by low-energy injuries. MATERIALS AND METHODS: A total of 114 patients with distal radius fracture were examined in a cross-sectional, observational study. Fractures were classified according to the international AO-Müller/Orthopedic Trauma Association (AO/OTA) classification in order to determine the severity. The patient's Body Mass Index (BMI) was calculated and a Pearson correlation was performed. RESULTS: The patients were predominantly female, and left side was more frequently affected. Most of the fractures were AO/OTA type A (71 patients). The majority of the involved patients in our study were overweighed or obese. We do not observe a direct correlation between grade of obesity and distal radius fracture severity. CONCLUSIONS: Based on the results of this study obesity and severity of distal radius fractures do not correlate. LEVEL OF EVIDENCE: Prognostic. Level IV.

Nivel de cumplimiento y factores que influyen en la aplicación de la lista de verificación de cirugía segura / Level of compliance and factors influencing the implementation of the Safe Surgery Checklist", "_i": "

Introducción: La seguridad del paciente en cirugía es el segundo reto de la Organización Mundial de la Salud, ya que el 25% de las hospitalizaciones quirúrgicas presentan complicaciones relacionadas con errores técnicos y el 70% de los eventos adversos se consideran prevenibles; por esta razón se crea la lista de verificación de cirugía segura (LVCS), para reforzar las prácticas de seguridad. Objetivo: Determinar el nivel de cumplimento y los factores que influyen en la aplicación de la lista de verificación de cirugía segura. Material y métodos: Estudio descriptivo, prospectivo, transversal; periodo mayo-agosto de 2010. Muestreo por conveniencia: incluyó todo evento quirúrgico (n = 326) y personal-profesional de sala de Operaciones (n = 93). Se realizó una lista de chequeo con 25 ítems con escala dicotómica para determinar nivel y factores de cumplimiento, viabilidad, llenado correcto, marcaje y pausa quirúrgica, también percepción de beneficios para evitar eventos adversos. Datos analizados en Excel a través de frecuencias, porcentajes y medidas de tendencia central. Resultados: El nivel de cumplimiento de la lista de verificación de cirugía segura es de 87.97%. El incumplimiento se identificó en marcaje del sitio quirúrgico (9.6%); reporte verbal de consideraciones especiales y situaciones críticas en cirugía (50.6%), aspectos de recuperación (41.0%). El 91.8% del personal considera que la lista es viable; para el 86.3%, proporciona algún beneficio, y el 91.2% considera que evita eventos adversos. Conclusiones: El bajo nivel de cumplimiento se debe a que el proceso se encuentra en una etapa temprana de implementación, que además involucra a cuatro profesionales de la salud, generando falta de continuidad en el llenado correcto de la lista de verificación de cirugía segura.

Introduction: Patient safety in surgery is the second Global Challenge of the World Health Organization, as 25% of hospitalizations surgical complications are related to technical errors. Up to 70% of adverse events are considered preventable, for this reason a checklist is created for safe surgery to reinforce safety practices. Objective: To determine the level of compliance and the factors influencing the implementation of the checklist. Methods: A descriptive, prospective, transversal study was conducted in May-August 2010. Convenience sample included all surgical event (n = 326) and professional staff at the operating room (n = 93). Checklist was performed with 25 items with dichotomous scale to determine level and compliance factors, feasibility, correct filling, labeling and surgical pause and perceived benefits to avoid adverse events. Excel database analyzed by frequencies, percentages and measures of central tendency. Results: The level of compliance is 87.97% of the checklist. Failure was identified in marking the surgical site (9.6%); verbal reporting of special considerations and critical situations in surgery (50.6%); aspects of recovery (41.0%). 91.8% of staff considers that the list is viable, for 86.3% it provides some benefit and 91.2% believe that it avoids adverse events. Conclusions: The low level of compliance is because the process is at an early stage of implementation, which also involves four health professionals generating lack of continuity in the correct filling of the safe surgery checklist.

Factores que influyen en el riesgo de caída de los pacientes hospitalizados / Risk factors that influence the falls in hospitalized patients", "_i": "

Introducción: La alianza mundial para la seguridad del paciente estableció medidas clave para reducir el número de eventos adversos que sufren los pacientes al recibir atención médica, entre ellos se encuentran las caídas, que se definen como cualquier acontecimiento que precipita al paciente al suelo en contra de su voluntad. Objetivo: Identificar los factores que influyen en las caídas de pacientes hospitalizados. Material y métodos: Estudio descriptivo, retrospectivo y transversal de enero a diciembre de 2008; se incluyeron los casos de pacientes hospitalizados que sufrieron caídas. Se elaboró un instrumento para recolectar datos de la base informática del Departamento de Calidad del Cuidado y del expediente clínico de los pacientes quienes sufrieron caída. Variables: edad, sexo, estado neurológico, acompañamiento, riesgo de caída, medidas de seguridad, sitio donde se originó la caída, presencia de lesiones. Resultados: Ingresaron 5,753 pacientes, de los cuales 39 presentaron caída durante su estancia hospitalaria; el 72% fue mayor de 50 años, predominó el sexo femenino con 56%; 31% correspondió a caída del Reposet; 100% de los pacientes estaban en estado de alerta y 74% se encontraban solos. El 92% tenía riesgo de caída alto. Conclusiones: El estudio identificó como factores para caída, la permanencia en el Reposet del paciente mayor de 50 años, con una valoración del riesgo de caída alto. Estos datos demuestran que existen áreas de oportunidad para la valoración, comunicación y vigilancia al paciente hospitalizado, por tal motivo es necesario enfatizar la manera correcta de llevar a cabo el estándar de prevención de caídas.

Introduction: The world alliance for patient safety established measurements to reduce the number of adverse events that patients suffer when in medical attention, among them there are the falls that are defined as any event which sends the patient to the floor against his will. Objective: Identify the factors that influence the falls in the hospitalized patient. Material and methods: A descriptive, transversal and retrospective study from January to December 2008; there were included 7 cases of hospitalized patients who suffer falls. An instrument to collect data from the base of the Health care Quality Department and from the patients’ files that suffer falls was created. Variables: Age, sex, neurologic status, accompaniment, risk of falling, security measurements, place of falling, lesions. Results: 5, 753 patients were admitted, 39 of them fell while in the hospital; 72% was older than 50 years, 56% were male; 31% fell from a recliner; 100% were in alertness, and 74% were alone. The 92% had a high risk of falling. Conclusions: The study identify as factors of falling the staying on the recliner from patients older than 50, assed with a high risk of falling. These data show that there are opportunity areas for the assessment, communication, monitoring, because of this is necessary to emphasize the correct way to carry out the prevention standard for fallings.

Promotor genotype of the platelet-derived growth factor receptor-alpha gene shows population stratification but not association with spina bifida meningomyelocele.

Neural tube defects (NTDs) constitute a major group of congenital malformations with an overall incidence of approximately 1-2 in 1,000 live births in the United States. Hispanic Americans have a 2.5 times higher risk than the Caucasian population. Spina bifida meningomyelocele (SBMM) is a major clinical presentation of NTDs resulting from lack of closure of the spinal cord caudal to the head. In a previous study of spina bifida (SB) patients of European Caucasian descent, it was suggested that specific haplotypes of the platelet-derived growth factor receptor-alpha (PDGFRA) gene P1 promoter strongly affected the rate of NTD genesis. In our study, we evaluated the association of PDGFRA P1 in a group of 407 parent-child triads (167 Caucasian, 240 Hispanics) and 164 unrelated controls (89 Caucasian, 75 Hispanic). To fully evaluate the association of PDGFRA P1, we performed both transmission-disequilibrium test (TDT) and association analyses to test the hypotheses that PDGFRA P1 was (1) transmitted preferentially in SBMM affected children and (2) associated with the condition of SBMM comparing affected children to unaffected controls. We did find that there was a different allelic and genotypic distribution of PDGFRA P1 when comparing Hispanics and Caucasians. However, neither ethnic group showed strong association between SBMM and the PDGFRA P1 region. These findings suggest that PDGFRA P1 does not have a major role in the development of SBMM.

Subnormal visual acuity (SVAS) and albinism in Mexican 12-13-year-old children.

BACKGROUND: In a previous study the vision of 1046 12-13-year-olds in Sweden was examined. Of those 67 had some kind of visual disturbances and in 20 no obvious cause was found. In this group, defined as children with subnormal visual acuity syndromes (SVAS), albinism was shown to be a major cause to the visual dysfunction giving a prevalence of about 1%. This is about 100 times higher than previous figures. Albinism can therefore be the cause in many cases of unexplained low visual acuity, at least in Sweden. Subnormal visual acuity is usually found in 2-4% in a pediatric population and is often called 'amblyopia'. The Swedish study showed that in many cases 'amblyopia' should be replaced by 'SVAS' and further investigation. The present Mexican study was designed identically to the Swedish study. The objective was to describe the distribution of visual acuity and the prevalence of ocular disorders, including incidence of subnormal visual acuity (SVAS) and the occurrence of albinism in a Mexican population of 12-13-year-olds. SUBJECTS AND METHODS: Altogether 1035 children, 12-13 years of age, were examined. A total number of 344 children were referred to the university pediatric eye clinic for further examination. 272 of these had simple refractive errors, 59 were diagnosed with an ophthalmological disorder and 13 children could not be pathologically classified. These were referred to a second ophthalmological examination, including VEP (Visual Evoked Potential) recordings. VEP reveals an asymmetric (right vs. left) cortical response after monocular stimulation in albinism. RESULTS: No child showed iris translucency or any other typical albinoic sign. VEP was recorded from 11 children. Three children showed an asymmetric VEP and were classified as albinos. The VEP response was normal in 8 of the children. CONCLUSIONS: The results indicate that albinism is common in Mexico, although not as common as in a similar Swedish population. A prevalence of albinism of approximately 0.3% was found in the Mexican population, compared to approximately 1% in the Swedish study group. The number of albinos was much higher in both study groups than to be expected from previous estimates. The difference between the Swedish and the Mexican figures may be explained by the general difference in pigmentation between Sweden and Mexico and thus probably by the subsequent lower number of commonly occurring albino foci in the Mexican heritage. It is emphasised that in investigations of children with SVAS, also in countries with a generally high pigmentation level, electro-physiological examinations are important, to be able to reveal albinism, but also to exclude or verify other conditions in the SVAS group, for example neurometabolic conditions.

Síndrome de Bouveret. A propósito de un caso / A Bouveret syndrome. A case -report

No disponible

No disponible

[Pyogenic liver abscesses of cryptogenic origin]. / Abscesos hepáticos piógenos de origen criptogenético.

OBJECTIVE: To analyze and clarify the clinical behaviour and outcome of patients with pyogenic liver abscess of cryptogenic origin and, moreover, to observe if there are any differential characteristics in relation to those found in patients with a known pathogenesis. MATERIAL AND METHODS: Multicenter and retrospective study of two groups of patients diagnosed of pyogenic liver abscess, during a period of 13 years. Group 1: 34 cases with abscess of cryptogenic origin and Group 2: 99 patients with a known pathogenesis. Clinical, laboratory, and microbiologic data, morphology and topography of the lesions, treatment and outcome were assessed and compared in both groups. RESULTS: The duration of symptomatology was higher in Group 1 (9.4 +/- 6.5 vs 8.1 +/- 4.4 days; p = 0.05). Although, in this category of patients, it was also observed a lower frequency of jaundice (6 vs 26%; p = 0.02) and lower level of bilirubinemia (0.9 +/- 0.9 vs 2.6 +/- 4.4 mg/dl; p = 0.05), the majority of clinical and laboratory data were similar in both groups. The rate of patients with abscesses on the left lobe (26% vs 12%; p = 0.04) was higher in Group 1. The therapeutic modality carried out in the two groups was not significantly different, neither were hospital stay, and morbidity and mortality rates. CONCLUSIONS: The patients with pyogenic liver abscesses of cryptogenic origin present few specific clinical characteristics which facilitate the diagnosis. Besides, their outcome was no significantly different from that found in patients with abscesses of known pathogenesis.

Abscesos hepáticos piógenos en pacientes con cáncer / Pyogenic liver abscesses in cancer patients

Objetivo. Analizar el comportamiento clínico de los abscesos hepáticos piógenos en pacientes con cáncer y determinar si existe alguna diferencia en relación con los hallados en enfermos sin patología maligna.Pacientes y métodos. Mediante un estudio multicéntrico se revisaron, retrospectivamente, 133 pacientes con abscesos hepáticos piógenos diagnosticados durante 13 años; éstos fueron divididos en dos grupos: 29 casos con tumores malignos identificados durante los 5 años anteriores al desarrollo del absceso (grupo 1) y 104 sin neoplasias malignas (grupo 2). Se analizaron y se compararon datos clínicos, biológicos y bacteriológicos, morfología y topografía lesional, tratamiento y, en especial, la evolución clínica.Resultados. Los abscesos con etiopatogenia portal fueron más comunes en el grupo 1 (24 por ciento frente a 10 por ciento; p = 0,03). Los datos clínicos y biológicos fueron similares en ambos grupos, salvo en lo referente a ictericia (31 por ciento frente al 18 por ciento; p = 0,09), hepatomegalia (38 por ciento frente al 21 por ciento; p = 0,06) y derrame pleural (48 por ciento frente al 28 por ciento; p = 0,03), que fueron más frecuentes en el grupo 1. En el mismo grupo también fue superior el nivel medio de aspartato-amino-transferasa (AST) (112 ñ 149 frente al 60 ñ 88; p = 0,07). La morfología y la topografía lesional, asi como la bacteriología de los dos grupos no fueron significativamente diferentes. En el grupo 1 el drenaje quirúrgico fue practicado con menor frecuencia (21 por ciento frente al 38 por ciento; p = 0,09) y la mortalidad fue superior (24 por ciento frente al 11 por ciento; p = 0,08). Sin embargo, no hubo significación estadística en relación a la estancia hospitalaria y con la morbilidad.Entre los enfermos tratados sólo con antibióticos la mortalidad fue más frecuente en el grupo 1 (50 por ciento frente al 10 por ciento; p = 0,06).Conclusiones. En los abscesos hepáticos piógenos de pacientes con enfermedad tumoral maligna se constató un predominio de la etiopatogenia portal. La presencia de cáncer en pacientes con abscesos hepáticos piógenos no implicó una presentación clínica significativamente diferente; sin embargo, la evolución clínica fue peor que la hallada en aquellos casos sin enfermedad neoplásica (AU)

Screening merits of the Lang II, Frisby, Randot, Titmus, and TNO stereo tests.

PURPOSE: Previous works show a pronounced disagreement on the reliability of stereo tests as screening tools for amblyopia and strabismus. This study's aim was to compare the ability of the Lang II, Frisby, Randot, Titmus, and TNO stereo tests to detect amblyopia and strabismus with visual acuity testing and cover testing. METHODS: A total of 1035 school children aged 12 to 13 years were examined in a field study in Monterrey, Mexico. In addition to the 5 stereo tests, the examination included visual acuity, cover testing, refraction (skiascopy), and inspection of the red reflex and posterior pole. RESULTS: Sensitivity ranged from 17% to 47% (Frisby-Titmus-Lang II-Randot-TNO, in order of occurrence). Of the 60 subjects with strabismus and/or amblyopia, only 8 subjects were identified by all 5 stereo tests. A considerable number of subjects (25), the majority of whom were amblyopic (23 subjects), were not identified by any of the tests. All stereo tests showed higher sensitivities for strabismus than for amblyopia. CONCLUSION: None of the 5 stereo tests studied is suitable for screening for amblyopia or strabismus. The results of both ocularly normal subjects and subjects with strabismus and/or amblyopia are variable, and there is no way of separating normal response from abnormal response.

Subnormal visual acuity syndromes (SVAS): albinism in Swedish 12-13-year-old children.

BACKGROUND: The vision of 12-13-year-olds in Sweden was examined in a field study. The study was designed as being a part of a large European-Latin American study, the DESAMI project. The objective was to evaluate the prevalence of residual amblyopia and ocular disorders, atiologies of subnormal vision and some normal visual parameters in this group of children. The children had to be born in Sweden in 1985 in order to have the opportunity to be included in the voluntary screening visual examinations. The full results of the study will be presented elsewhere. This paper presents clinical and VEP data of those children who had visual acuity of 0.8 or below in one or both eyes which could not be increased with glasses, or other visual/eye disturbances not explained as common amblyopia, i.e., subnormal visual acuity or pathological visual states of unknown cause, SVAS (subnormal visual acuity syndromes). SUBJECTS AND METHODS: In all, 1046 children were examined: 76 had visual disturbances of such severity that they were referred to a paediatric ophthalmologist (AS). Eighteen children could not be pathologically classified, and they were referred to another ophthalmological examination and VEP (visual evoked potential) recordings. VEP reveals an asymmetric response after monocular stimulation in albinism. RESULTS: Twelve children turned up for a second examination and VEP was recorded from 10 children. Nine children showed iris translucency. Seven children showed an asymmetric VEP and were classified as albinos. The albinoic VEPs could be subdivided into two types, (1) including all parts of the response and (2) partly excluding the P1/P100 potential complex. The VEP response was normal, showing symmetry and no other abnormality, in three of the children. CONCLUSIONS: The results indicate that albinism is common in Sweden. A prevalence value of approximately 1% is about 100 times higher than previous figures. This high prevalence may indicate another form of heredity, with genetical contribution to albinism from a varying number of albino genes and varying expression in the phenotypes, in the Scandinavian population. It is emphasised that in investigations of children with SVAS, electrophysiological examinations are important, not only to reveal albinism but also to exclude or verify neurometabolic conditions, for example.

Abscesos hepáticos piógenos de origen criptogenético / Pyogenic liver abscesses of cryptogenic origin

Objetivo: Analizar y clarificar el comportamiento clínico y evolutivo de los pacientes con abscesos hepáticos piógenos de origen criptogenético y, además, observar si existen características diferenciales en relación a los abscesos de enfermos con etiopatogenia conocida. Material y métodos: Estudio multicéntrico y retrospectivo de 2 grupos de pacientes diagnosticados de absceso hepático piógeno, durante un periodo de 13 años. Grupo 1: 34 casos, con abscesos de origen desconocido y grupo 2: 99 enfermos, con etiopatogenia conocida. Se analizaron y se compararon datos clínicos, biológicos y bacteriológicos, morfología y topografía lesional, tratamiento y evolución clínica. Resultados: La duración de la sintomatología fue mayor en el Grupo 1 (9,4 ± 6,5 versus 8,1 ± 4,4 días; p = 0,05). Aunque, también, en esta categoría de pacientes se observó menor frecuencia de ictericia (6 versus 26 por ciento; p = 0,02) y menor nivel de bilirrubinemia (0,9 ñ 0,9 versus 2,6 ñ 4,4 mg/dl; p = 0,05), la mayoría de los datos clínicos y biológicos fueron similares en ambos grupos. La proporción de pacientes con afectación del lóbulo izquierdo (26 versus 12 por ciento; p = 0,04) fue superior en el grupo 1. La modalidad terapéutica efectuada en los dos grupos no fue significativamente diferente, como tampoco lo fue la estancia hospitalaria y las tasas de morbilidad y mortalidad. Conclusiones: Los pacientes con abscesos hepáticos piógenos de origen criptogenético presentan escasas características clínicas específicas que faciliten su diagnóstico; además, su comportamiento evolutivo no fue significativamente diferente del hallado en enfermos con abscesos de etiopatogenia conocida (AU)

Brain imaging in posttraumatic stress disorder.

This is a review article of neuroimaging studies in post-traumatic stress disorder (PTSD). Findings from structural, biochemical, and functional studies are summarized. Magnetic resonance imaging (MRI) volumetric studies have consistently reported decreased hippocampal volumes in PTSD. Proton magnetic resonance spectroscopy studies report decreased N-acetyl aspartate (NAA) ratios and absolute concentrations in the medial temporal lobe. Although still controversial, these findings from volumetric and spectroscopic studies are thought to represent decreased neuronal density of the hippocampus. Functional imaging studies document different patterns of limbic and paralimbic structure activation in PTSD compared with controls. Of theoretical importance are findings of failure to activate the anterior cingulate as well as amygdala activation during symptom provocation studies. Also, increased amygdala activation was found with a behavioral task targeted to this structure. A neurobiological model is presented that takes into account findings from neuroimaging studies in PTSD as well as animal studies of fear conditioning. This model proposes that central to symptom mediation is a dysfunction of the anterior cingulate, with a failure to inhibit amygdala activation and/or an intrinsic lower threshold of amygdala response to fearful stimuli. The model further proposes that hippocampal atrophy is a result of the chronic hyperarousal symptoms mediated by amygdala activation.

Visual acuity, residual amblyopia and ocular pathology in a screened population of 12-13-year-old children in Sweden.

PURPOSE: To establish the distribution of visual acuity and the prevalence of residual amblyopia and other ocular disorders in a vision-screened population group of 12-13-year-old children. METHODS: In total 1046 children were examined in a field study in Sweden. The examination included visual acuity, stereopsis, cover testing, red reflex, refractive retinoscopy and examination of the posterior pole. In selected cases VEP was also performed. RESULTS: Visual acuity > or =1.0 in at least one eye was present in 98% of cases. Residual amblyopia (< or =0.5) was found in 1.1% of the population. Manifest strabismus was found in 2.7%. There were only a small number of ocular opacities and posterior pole abnormalities. Ocular albinism was found in 7 cases. In 15 children the cause of subnormal VA was unexplained. CONCLUSION: Results for visual acuity, residual amblyopia and other ocular disorders are very similar to previous Nordic, vision-screened populations.

[Pyogenic liver abscesses in cancer patients]. / Abscesos hepáticos piógenos en pacientes con cáncer.

OBJECTIVE: To analyse the clinical behaviour of pyogenic liver abscesses among cancer patients, and to determine whether there is any difference between clinical behaviour among patients without malignancies. PATIENTS AND METHODS: Retrospective, multicentric study with 133 patients with pyogenic liver abscesses diagnosed during 13 years. Patients were divided into two groups: 29 patients with malignant tumors identified during the five years prior to abscess development (group 1) and 104 patients without malignant tumors (group 2). Clinical, biological and bacteriological findings, morphology and lesional topography, treatment and particularly, clinical course were analysed. RESULTS: Abscesses with portal pathogenesis were more common in group 1 (24% versus 10%; p = 0.03). Clinical and biological data were similar in both group but jaundice (31% versus 18%; p = 0.09), liver enlargement (38% versus 21%; p = 0.06) and pleural effusion (48% versus 28%; p = 0.03), which were more common in group 1. In the same group, the mean AST level was also higher (112 149 versus 60 88; p = 0.07 ). Morphology and lesional topography, as well as bacteriology in both groups did not differ significantly. In group 1, surgical drainage was performed less frequently (21% versus 38%; p = 0.09) and mortality rate was higher (24% versus 11%; p = 0.08). Nevertheless, no significant differences were observed between hospital stay and morbidity. Among patients treated with antibiotics only, the mortality rate was higher in group 1 (50% versus 10%; p = 0.06). CONCLUSIONS: In pyogenic liver abscess in patients with malignant tumor disease a predominance of portal pathogenesis was observed. The presence of cancer among patients with pyogenic liver abscesses did not imply a significantly different clinical presentation; however, the clinical course was worse than that observed in cases without cancer.

Subnormal visual acuity syndromes (SVAS): albinism in Swedish 12-13-year-old children.

BACKGROUND: The vision of 12-13-year-olds in Sweden was examined in a field study. The study was designed as being a part of a large European-Latin American study, the DESAMI project. The objective was to evaluate the prevalence of residual amblyopia and ocular disorders, aetiologies of subnormal vision and some normal visual parameters in this group of children. The children had to be born in Sweden in 1985 in order to have the opportunity to be included in the voluntary screening visual examinations. The full results of the study will be presented elsewhere. This paper presents clinical and VEP data of those children who had visual acuity of 0.8 or below in one or both eyes which could not be increased with glasses, or other visual/eye disturbances not explained as common amblyopia, i.e., subnormal visual acuity or pathological visual states of unknown cause, SVAS (subnormal visual acuity syndromes). SUBJECTS AND METHODS: In all, 1046 children were examined: 76 had visual disturbances of such severity that they were referred to a paediatric ophthalmologist (AS). Eighteen children could not be pathologically classified, and they were referred to another ophthalmological examination and VEP (visual evoked potential) recordings. VEP reveals an asymmetric response after monocular stimulation in albinism. RESULTS: Twelve children turned up for a second examination and VEP was recorded from 10 children. Nine children showed iris translucency. Seven children showed an asymmetric VEP and were classified as albinos. The albinoic VEPs could be subdivided into two types, (1) including all parts of the response and (2) partly excluding the P1/P100 potential complex. The VEP response was normal, showing symmetry and no other abnormality, in three of the children. CONCLUSIONS: The results indicate that albinism is common in Sweden. A prevalence value of approximately 1% is about 100 times higher than previous figures. This high prevalence may indicate another form of heredity, with genetical contribution to albinism from a varying number of albino genes and varying expression in the phenotypes, in the Scandinavian population. It is emphasised that in investigations of children with SVAS, electrophysiological examinations are important, not only to reveal albinism but also to exclude or verify neurometabolic conditions, for example.