Does the esv3587290 Copy Number Variation in the VANGL1 Gene Differ as a Genetic Factor for Developing Nephritis in Mexican Childhood-Onset Systemic Lupus Erythematosus Patients?

A ~3-kb deletion-type DNA copy number variation (CNV, esv3587290) located at intron 7 of the VANGL1 gene (1p13.1, MIM*610132) has been proposed as a genetic factor in lupus nephritis (LN) development in adult systemic lupus erythematosus (SLE) patients across European-descent populations, but its replication in other ethnicities has been inconsistent and its association with LN in childhood-onset SLE (cSLE) remains unknown. Here, we performed an exploratory association study in a sample of 66 unrelated cSLE Mexican patients (11 males, 55 females; ages 7.8 to 18.6 years). Two stratified groups were compared: cSLE patients with (N = 39) or without (N = 27) LN, as diagnosed by renal biopsy (N = 17), proteinuria (N = 33), urinary protein-creatinine ratio > 0.2 (N = 34), and erythrocyturia and/or granular casts in urinary sediment (N = 16). For esv3587290 CNV genotyping, we performed an end-point PCR assay with breakpoint confirmation using Sanger sequencing. We also determined the allelic frequencies of the esv3587290 CNV in 181 deidentified ethnically matched individuals (reference group). The obtained genotypes were tested for Hardy-Weinberg equilibrium using the χ2 test. Associations between LN and esv3587290 CNV were tested by calculating the odds ratio (OR) and using Pearson's χ2 tests, with a 95% confidence interval and p ≤ 0.05. The esv3587290 CNV allele (OR 0.108, 95% CI 0.034-0.33, p = 0.0003) and the heterozygous genotype (OR 0.04, 95% CI 0.119-0.9811, p = 0.002) showed a significant protective effect against LN development. Finally, we characterized the precise breakpoint of the esv3587290 CNV to be NG_016548.1(NM_138959.3):c.1314+1339_1315-897del in our population. This report supports the notion that a broad genetic heterogeneity underlies the susceptibility for developing LN.

Clinical practice guidelines for diagnostic and treatment of the chronic heart failure.

Chronic heart failure continues to be one of the main causes of impairment in the functioning and quality of life of people who suffer from it, as well as one of the main causes of mortality in our country and around the world. Mexico has a high prevalence of risk factors for developing heart failure, such as high blood pressure, diabetes, and obesity, which makes it essential to have an evidence-based document that provides recommendations to health professionals involved in the diagnosis and treatment of these patients. This document establishes the clinical practice guide (CPG) prepared at the initiative of the Mexican Society of Cardiology (SMC) in collaboration with the Iberic American Agency for the Development and Evaluation of Health Technologies, with the purpose of establishing recommendations based on the best available evidence and agreed upon by an interdisciplinary group of experts. This document complies with international quality standards, such as those described by the US Institute of Medicine (IOM), the National Institute of Clinical Excellence (NICE), the Intercollegiate Network for Scottish Guideline Development (SIGN) and the Guidelines International Network (G-I-N). The Guideline Development Group was integrated in a multi-collaborative and interdisciplinary manner with the support of methodologists with experience in systematic literature reviews and the development of CPG. A modified Delphi panel methodology was developed and conducted to achieve an adequate level of consensus in each of the recommendations contained in this CPG. We hope that this document contributes to better clinical decision making and becomes a reference point for clinicians who manage patients with chronic heart failure in all their clinical stages and in this way, we improve the quality of clinical care, improve their quality of life and reducing its complications.

La insuficiencia cardiaca crónica sigue siendo unas de las principales causas de afectación en el funcionamiento y en la calidad de vida de las personas que la presentan, así como una de las primeras causas de mortalidad en nuestro país y en todo el mundo. México tiene una alta prevalencia de factores de riesgo para desarrollar insuficiencia cardiaca, tales como hipertensión arterial, diabetes y obesidad, lo que hace imprescindible contar con un documento basado en la evidencia que brinde recomendaciones a los profesionales de la salud involucrados en el diagnóstico y el tratamiento de estos pacientes. Este documento establece la guía de práctica clínica (GPC) elaborada por iniciativa de la Sociedad Mexicana de Cardiología (SMC) en colaboración con la Agencia Iberoamericana de Desarrollo y Evaluación de Tecnologías en Salud, con la finalidad de establecer recomendaciones basadas en la mejor evidencia disponible y consensuadas por un grupo interdisciplinario y multicolaborativo de expertos. Cumple con estándares internacionales de calidad, como los descritos por el Institute of Medicine de los Estados Unidos de América (IOM), el National Institute of Clinical Excellence (NICE) del Reino Unido, la Intercollegiate Network for Scottish Guideline Development (SIGN) de Escocia y la Guidelines International Network (G-I-N). El grupo de desarrollo de la guía se integró de manera interdisciplinaria con el apoyo de metodólogos con experiencia en revisiones sistemáticas de la literatura y en el desarrollo de GPC. Se llevó a cabo y se condujo metodología de panel Delphi modificado para lograr un nivel de consenso adecuado en cada una de las recomendaciones contenidas en esta GPC. Esperamos que este documento contribuya para la mejor toma de decisiones clínicas y se convierta en un punto de referencia para los clínicos que manejan pacientes con insuficiencia cardiaca crónica en todas sus etapas clínicas, y de esta manera logremos mejorar la calidad en la atención clínica, aumentar la calidad de vida de los pacientes y disminuir las complicaciones de la enfermedad.

Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity.

Inborn errors of immunity may present with autoimmunity and autoinflammation as hallmark clinical manifestations. We aimed to identify the potential monogenic causes of autoimmune disorders in 26 patients from a pediatric reference hospital in Mexico through whole-exome sequencing. We specifically selected patients with a family history of autoimmune diseases, early-onset symptoms, and difficult-to-control autoimmune disorders or autoimmunity associated with infection predisposition. We identified the genetic variants that were compatible with the patients' phenotype in 54% of the patients. Autoimmune diseases are often caused by a combination of genetic factors, but cases that appear at a young age are resistant to treatment or occur in clusters, as well as the presence of autoimmune symptoms alongside infectious diseases should raise suspicion for an underlying inborn error of immunity.

Amaurosis as an initial presentation of Takayasu arteritis in children.

Visual disturbances in Takayasu arteritis (TA) are common but tend to be late manifestations of the disease. However, its presence at diagnosis must alert TA to avoid sight disabilities. Herein, we present two children with TA that debuted with vision loss, and the results of the literature review displayed 58 subjects with vision loss before the diagnosis of TA. The world English literature was reviewed by searching the PubMed database of the National Library of Medicine for the terms "Takayasu Arteritis" and "Blindness" or "Amaurosis fugax", from 190 to 2021. Cases eligible must present vision loss before or at TA diagnosis. Our two patients who presented with amaurosis fulfilled the criteria for TA diagnosis. The first patient had a bilateral and transient visual loss, whereas the second had monocular and permanent amaurosis. Both patients were cursed with hypertension and demonstrated large vessel compromise; their clinical picture improved with corticosteroids and immunosuppressant therapy. We identified in the literature review sixteen patients with TA in case reports and 42 in case series, plus our two cases presented herein with monocular or bilateral vision loss at the time of diagnosis. Previous literature indicated that amaurosis represents a severely advanced disease. Herein, we reported two children with amaurosis as their pivotal symptom; they had significant head and neck vascular alterations, so prompt and aggressive treatment is needed to prevent disease progression and disability. Transient or permanent vision loss must alert the physician to include Takayasu arteritis in the differential diagnosis.

Prognostic Factors at Diagnosis Associated With Damage Accrual in Childhood-Onset Systemic Lupus Erythematosus Patients.

Objectives: To associate prognostic factors present at diagnosis with damage accrual in childhood-onset systemic lupus erythematosus (cSLE) patients. Methods: We designed a cohort study of eligible children age 16 or younger who fulfilled the 1997 American College of Rheumatology (ACR) classification criteria for SLE. Excluded were those with previous treatment of steroids or immunosuppressants. The diagnosis date was cohort entry. We followed up on all subjects prospectively for at least 2 years. Two experts assessed the disease activity with the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) and Mexican-SLEDAI (MEX-SLEDAI) every 3-6 months. Damage was measured annually, applying Pediatric Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI) to their last visit. We analyzed prognostic factors by relative risks (RR) and used logistic regression to construct the clinimetric table. Results: Ninety patients with a median age of 11.8 years at diagnosis had a SLEDAI score of 15.5 (2-40) and a MEX-SLEDAI score of 12 (2-29); and of them, forty-eight children (53%) had SDI ≥ 2. The associated variables to damage (SDI ≥ 2) are as follows: neurologic disease RR 9.55 [95% CI 1.411-64.621]; vasculitis RR 2.81 [95% CI 0.991-7.973], and hemolytic anemia RR 2.09 [95% CI 1.280-3.415]. When these three features are present at diagnosis, the probability of damage ascends to 98.97%. Conclusion: At diagnosis, we identified neurologic disease, vasculitis, and hemolytic anemia as prognostic factors related to the development of damage in cSLE. Their presence should lead to a closer follow-up to reduce the likelihood of damage development.

Guía de práctica clínica mexicana para el diagnóstico y tratamiento de las dislipidemias y enfermedad cardiovascular aterosclerótica.

ANTECEDENTES: Las enfermedades cardiovasculares son la principal causa mundial de mortalidad y México no es la excepción. Los datos epidemiológicos obtenidos en 1990 mostraron que los padecimientos cardiovasculares representaron el 19.8% de todas las causas de muerte en nuestro país; esta cifra se incrementó de manera significativa a un 25.5% para 2015. Diversas encuestas nacionales sugieren que más del 60% de la población adulta tiene al menos un factor de riesgo para padecer enfermedades cardiovasculares (obesidad o sobrepeso, hipertensión, tabaquismo, diabetes, dislipidemias). Por otro lado, datos de la Organización Panamericana de la Salud han relacionado el proceso de aterosclerosis como la primer causa de muerte prematura, reduciendo la expectativa de vida de manera sensible, lo que tiene una enorme repercusión social. OBJETIVO: Este documento constituye la guía de práctica clínica (GPC) elaborada por iniciativa de la Sociedad Mexicana de Cardiología en colaboración con la Sociedad Mexicana de Nutrición y Endocrinología, A.C., Asociación Nacional de Cardiólogos de México, A.C., Asociación Mexicana para la Prevención de la Aterosclerosis y sus Complicaciones, A.C., Comité Normativo Nacional de Medicina General, A.C., Colegio Nacional de Medicina Geriátrica, A.C., Colegio de Medicina Interna de México, A.C., Sociedad Mexicana de Angiología y Cirugía Vascular y Endovenosa, A.C., Instituto Mexicano de Investigaciones Nefrológicas, A.C. y la Academia Mexicana de Neurología, A.C.; con el apoyo metodológico de la Agencia Iberoamericana de Desarrollo y Evaluación de Tecnologías en Salud, con la finalidad de establecer recomendaciones basadas en la mejor evidencia disponible y consensuadas por un grupo interdisciplinario de expertos. El objetivo de este documento es el de brindar recomendaciones basadas en evidencia para ayudar a los tomadores de decisión en el diagnóstico y tratamiento de las dislipidemias en nuestro país. MATERIAL Y MÉTODOS: Este documento cumple con estándares internacionales de calidad, como los descritos por el Instituto de Medicina de EE.UU., el Instituto de Excelencia Clínica de Gran Bretaña, la Red Colegiada para el Desarrollo de Guías de Escocia y la Red Internacional de Guías de Práctica Clínica. Se integró un grupo multidisciplinario de expertos clínicos y metodólogos con experiencia en revisiones sistemáticas de la literatura y el desarrollo de guías de práctica clínica. Se consensuó un documento de alcances, se establecieron las preguntas clínicas relevantes, se identificó de manera exhaustiva la mejor evidencia disponible evaluada críticamente en revisiones sistemáticas de la literatura y se desarrollaron las recomendaciones clínicas. Se utilizó la metodología de Panel Delphi modificado para lograr un nivel de consenso adecuado en cada una de las recomendaciones contenidas en esta GPC. RESULTADOS: Se consensuaron 23 preguntas clínicas que dieron origen a sus respectivas recomendaciones clínicas. CONCLUSIONES: Esperamos que este documento contribuya a la mejor toma de decisiones clínicas y se convierta en un punto de referencia para los clínicos y pacientes en el manejo de las dislipidemias y esto contribuya a disminuir la morbilidad y mortalidad derivada de los eventos cardiovasculares ateroscleróticos en nuestro país. BACKGROUND: Cardiovascular diseases are the leading cause of mortality worldwide and Mexico is no exception. The epidemiological data obtained in 1990 showed that cardiovascular diseases represented 19.8% of all causes of death in our country. This figure increased significantly to 25.5% for 2015. Some national surveys suggest that more than 60% of the adult population has at least one risk factor for cardiovascular disease (obesity or overweight, hypertension, smoking, diabetes, dyslipidemias). On the other hand, data from the Pan American Health Organization have linked the process of atherosclerosis as the first cause of premature death, significantly reducing life expectancy, which has enormous social repercussions. OBJECTIVE: This document constitutes the Clinical Practice Guide (CPG) prepared at the initiative of the Mexican Society of Cardiology in collaboration with the Mexican Society of Nutrition and Endocrinology, AC, National Association of Cardiologists of Mexico, AC, Mexican Association for the Prevention of Atherosclerosis and its Complications, AC, National Normative Committee of General Medicine, AC, National College of Geriatric Medicine, AC, College of Internal Medicine of Mexico, AC, Mexican Society of Angiology and Vascular and Endovenous Surgery, AC, Mexican Institute of Research Nephrological, AC and the Mexican Academy of Neurology, A.C.; with the methodological support of the Ibero-American Agency for the Development and Evaluation of Health Technologies, in order to establish recommendations based on the best available evidence and agreed upon by an interdisciplinary group of experts. The objective of this document is to provide evidence-based recommendations to help decision makers in the diagnosis and treatment of dyslipidemias in our country. MATERIAL AND METHODS: This document complies with international quality standards, such as those described by the Institute of Medicine of the USA, the Institute of Clinical Excellence of Great Britain, the Scottish Intercollegiate Guideline Network and the Guidelines International Network. A multidisciplinary group of clinical experts and methodologists with experience in systematic reviews of the literature and the development of clinical practice guidelines was formed. A scope document was agreed upon, relevant clinical questions were established, the best available evidence critically evaluated in systematic literature reviews was exhaustively identified, and clinical recommendations were developed. The modified Delphi Panel methodology was used to achieve an adequate level of consensus in each of the recommendations contained in this CPG. RESULTS: 23 clinical questions were agreed upon which gave rise to their respective clinical recommendations. CONCLUSIONS: We consider that this document contributes to better clinical decision-making and becomes a point of reference for clinicians and patients in the management of dyslipidemias and this contributes to reducing the morbidity and mortality derived from atherosclerotic cardiovascular events in our country.

Guía de práctica clínica mexicana para el diagnóstico y tratamiento de las dislipidemias y enfermedad cardiovascular aterosclerótica / Mexican clinical practice guideline for the diagnosis and treatment of dyslipidemias and atherosclerotic cardiovascular disease

resumen está disponible en el texto completo

Abstract Background: Cardiovascular diseases are the leading cause of mortality worldwide and Mexico is no exception. The epidemiological data obtained in 1990 showed that cardiovascular diseases represented 19.8% of all causes of death in our country. This figure increased significantly to 25.5% for 2015. Some national surveys suggest that more than 60% of the adult population has at least one risk factor for cardiovascular disease (obesity or overweight, hypertension, smoking, diabetes, dyslipidemias). On the other hand, data from the Pan American Health Organization have linked the process of atherosclerosis as the first cause of premature death, significantly reducing life expectancy, which has enormous social repercussions. Objective: This document constitutes the Clinical Practice Guide (CPG) prepared at the initiative of the Mexican Society of Cardiology in collaboration with the Mexican Society of Nutrition and Endocrinology, AC, National Association of Cardiologists of Mexico, AC, Mexican Association for the Prevention of Atherosclerosis and its Complications, AC, National Normative Committee of General Medicine, AC, National College of Geriatric Medicine, AC, College of Internal Medicine of Mexico, AC, Mexican Society of Angiology and Vascular and Endovenous Surgery, AC, Mexican Institute of Research Nephrological, AC and the Mexican Academy of Neurology, A.C.; with the methodological support of the Ibero-American Agency for the Development and Evaluation of Health Technologies, in order to establish recommendations based on the best available evidence and agreed upon by an interdisciplinary group of experts. The objective of this document is to provide evidence-based recommendations to help decision makers in the diagnosis and treatment of dyslipidemias in our country. Material and methods: This document complies with international quality standards, such as those described by the Institute of Medicine of the USA, the Institute of Clinical Excellence of Great Britain, the Scottish Intercollegiate Guideline Network and the Guidelines International Network. A multidisciplinary group of clinical experts and methodologists with experience in systematic reviews of the literature and the development of clinical practice guidelines was formed. A scope document was agreed upon, relevant clinical questions were established, the best available evidence critically evaluated in systematic literature reviews was exhaustively identified, and clinical recommendations were developed. The modified Delphi Panel methodology was used to achieve an adequate level of consensus in each of the recommendations contained in this CPG. Results: 23 clinical questions were agreed upon which gave rise to their respective clinical recommendations. Conclusions: We consider that this document contributes to better clinical decision-making and becomes a point of reference for clinicians and patients in the management of dyslipidemias and this contributes to reducing the morbidity and mortality derived from atherosclerotic cardiovascular events in our country.

Propuesta de un protocolo de rehabilitación pulmonar en pacientes supervivientes de COVID -19 / Proposal for a pulmonary rehabilitation protocol in patients surviving COVID-19 / Proposta de um protocolo de reabilitação pulmonar em pacientes sobreviventes da COVID -19

Resumen: La enfermedad por coronavirus 2019 (COVID-19) causada por el virus SARS-CoV-2 es una nueva enfermedad caracterizada por generar daño pulmonar y compromiso de múltiples tejidos y órganos de todo el cuerpo. Algunos de los pacientes que presentan la infección ameritan manejo intrahospitalario con soporte de O2 y medidas adicionales que pueden incluir inmovilización prolongada en UCI. Los pacientes que presentan cuadros moderados o severos y sobreviven a la enfermedad pueden presentar deterioro y disfunciones a largo plazo, incluyendo fibrosis pulmonar, miocardiopatía, lesión renal, hepática, de nervio periférico y todas las complicaciones derivadas de hospitalizaciones en UCI. Se considera que la intervención en rehabilitación pulmonar reviste gran importancia, especialmente en la etapa de recuperación, y debe realizarse, principalmente, con los objetivos de mejorar la disnea, la debilidad muscular severa y la fatiga, a fin de promover la independencia funcional y aumentar la calidad de vida, de manera que se disminuye así la ansiedad y la depresión.

Abstract: Coronavirus disease 2019 (COVID-19) caused by SARS-COV-2 virus is a new disease characterized by generating lung damage and compromising multiple tissues and organs throughout the body. Some of the patients with the infection should need intrahospital management with O2 support and additional measures that may include prolonged ICU immobilization. Patients who have moderate or severe conditions and survive the disease, could experience long-term impairment and dysfunction, including pulmonary fibrosis, cardiomyopathy, renal, hepatic and peripheral nerve injury, and all complications arising from hospitalizations in the ICU. It is considered that intervention in pulmonary rehabilitation is particularly important, especially at the recovery stage, and should be performed mainly with the objectives of improving: dyspnea, severe muscle weakness and fatigue, in order to promote functional independence and increase quality of life, so that anxiety and depression are diminished.

Resumo: A doença por coronavírus (COVID-19), causada pelo vírus SARS-COV-2, é uma nova doença caracterizada por gerar dano pulmonar e comprometimento de múltiplos tecidos e órgãos de todo o corpo. Alguns dos pacientes que apresentam a infecção merecem atendimento intra-hospitalar com suporte de O2 e medidas extraordinárias que podem incluir imobilização prolongada na UTI. Os pacientes que apresentam quadros moderados ou graves e sobrevivem à doença podem apresentar deterioração e disfunções em longo prazo, incluindo fibrose pulmonar, miocardiopatia, lesão renal, hepática, de nervo periférico e todas as complicações derivadas de internações em UTI. Considera-se que a intervenção em reabilitação pulmonar ganha grande importância, especialmente na etapa de recuperação, e deve realizar-se principalmente com o objetivo de melhorar a dispneia, a debilidade muscular grave e a fatiga, a fim de promover a independência funcional e aumentar a qualidade de vida, para que assim a ansiedade e a depressão diminuam.

Situación laboral de los especialistas en Medicina Física y Rehabilitación Colombia, antes y durante la pandemia por Covid-19 / Employment situation of Physical Medicine and Rehabilitation specialists in Colombia, before and duringpandemicCovid-19

Introducción. Se calcula que en Colombia existen más de 300 especialistas en Medicina Física y Rehabilitación, sin que actualmente se conozcan sus condiciones laborales y cómo estas se han visto afectadas por la emergencia sanitaria por Covid-19. Objetivos. Realizar una caracterización de la situación laboral de los especialistas en Medicina Física y Rehabilitación en Colombia y describir el impacto sobre su práctica clínica de la emergencia sanitaria en el país por Covid-19. Método. Se realizó una encuesta virtual a los Fisiatras de Colombia, entre el 05 y el 15 de mayo de 2020; el cuestionario comprendía 49 preguntas sobre perfil laboral, satisfacción con la especialidad y aspectos de la emergencia sanitaria por Covid-19. Resultados. 171 Fisiatras de 26 departamentos de Colombia respondieron el cuestionario. Se encontró que el mayor porcentaje se desempeña en el sector privado (53,6 %) y la modalidad más frecuente de contratación es la de prestación de servicios (54,2 %); el 68,5 % se siente satisfecho con su remuneración mensual, la cual se ha visto afectada por la emergencia sanitaria, ya que el 55,6 % señaló una reducción de sus ingresos mayor al 50 %, asociada con el cierre de servicios como consulta externa (51,9 %). Además, la pandemia por Covid-19 ha generado miedo a morir (50,9 %) y a enfermar (75,4 %) entre los profesionales de esta área. Conclusiones. Es importante desarrollar un perfil ocupacional completo de los Fisiatras del país a fin de tomar medidas que mitiguen las consecuencias de la pandemia de Covid-19 en el sector

Introduction. It is estimated that there are more than 300 specialists in Physical Medicine and Rehabilitation in Colombia, but their working conditions and how they have been affected by the Covid-19 health emergency are not currently known. Objectives. To characterize the work situation of specialists in Physical Medicine and Rehabilitation in Colombia and to describe the impact on their clinical practice of the Covid-19 health emergency in the country. Method. A virtual survey was conducted among Physiatrists in Colombia, between May 05 and 15, 2020; the questionnaire comprised 49 questions on labor profile, satisfaction with the specialty and aspects of the health emergency by Covid-19. Results. 171 Physiatrists from 26 departments of Colombia answered the questionnaire. It was found that the highest percentage works in the private sector (53.6 %) and the most frequent modality of contracting is the provision of services (54.2 %); 68.5 % feel satisfied with their monthly remuneration, which has been affected by the health emergency, since 55.6 % reported a reduction in their income of more than 50 %, associated with the closure of services such as outpatient consultation (51.9 %). In addition, the Covid-19 pandemic has generated fear of dying (50.9 %) and of getting sick (75.4 %) among professionals in this area. Conclusions. It is important to develop a complete occupational profile of Physiatrists in the country in order to take measures to mitigate the consequences of the Covid-19 pandemic in the sector.

IgA vasculitis (Henoch - Schönlein Purpura) as the first manifestation of juvenile Systemic Lupus Erythematosus: Case-control study and systematic review.

BACKGROUND: We have recognized 15 children with jSLE and the antecedent of IgA vasculitis (HSP). This association is not broadly present in the literature. AIM: To know the age and gender distribution of children with IgA vasculitis (HSP), compare it to our IgA vasculitis (HSP) + jSLE cases, and identify prognostic factors to develop jSLE within our case series, IgA vasculitis (HSP) vs. IgA vasculitis (HSP) + jSLE. METHODS: A systematic review was carried out to know the age and gender distribution of children with IgA vasculitis (HSP). The information obtained plus data from 110 children with IgA vasculitis (HSP) from the Instituto Nacional de Pediatría were used to compare groups and identify prognostic factors. We performed a case-control study in patients < 18 years, consisting of 15 cases retrospectively identified with IgA vasculitis (HSP) + jSLE, and 110 IgA vasculitis (HSP) control subjects. RESULTS: The information of 12,819 IgA vasculitis (HSP) subjects from the systematic review and 110 IgA vasculitis (HSP) controls was obtained and compared to our 15 IgA vasculitis (HSP) + jSLE cases. The mean age of IgA vasculitis (HSP) was 7.1-years vs. 10.4-years of IgA vasculitis (HSP) + jSLE at the HSP diagnosis. Female to male ratio of IgA vasculitis (HSP) was 1:1.33 vs. 1:0.25 of IgA vasculitis (HSP) + jSLE. Patients with IgA vasculitis (HSP) + jSLE had lower levels of Hemoglobin (Hb) compared to patients with IgA vasculitis (HSP) 109 g/L vs. 141 g/L. For the development of jSLE, we found older age and lower levels of Hb as prognostic factors with OR [95% CI]: 1.37 [1.06, 1.89] and 5.39 [2.69, 15.25], respectively. CONCLUSION: IgA vasculitis (HSP) + jSLE patients are older and have lower levels of Hb than patients with IgA vasculitis (HSP). It is necessary to confirm these findings through a prospective study.

Confiabilidad de los estudios de neuroconducción en el síndrome de túnel carpiano / Reliability of neuroconduction studies in carpal tunnel syndrome

RESUMEN Objetivo Determinar la confiabilidad entre dos observadores y el cambio mínimo detectable de los estudios de neuroconducción para diagnosticar el síndrome de túnel carpiano. Métodos Se estudiaron 69 pacientes remitidos para estudio electrofisiológico por sospecha de síndrome de túnel carpiano. A los pacientes, se les realizaron dos exámenes, dos días diferentes, por dos evaluadores. Se evaluaron las latencias sensitivas y motoras de los nervios mediano y cubital; todos fueron clasificados como negativos, incipientes, leves, moderados, severos o extremos. Se calculó la variación relativa entre ensayos, el coeficiente de correlación intraclase, el índice de kappa, el límite de acuerdo y el cambio mínimo detectable. Resultados La variación relativa entre ensayos de la latencia motora del nervio mediano fue de -6,8 % a 15,9 % con coeficiente de correlación intraclase de 0,98 para la diferencia con la latencia del nervio cubital. El cambio mínimo detectable fue de 0,4ms. La variación relativa entre ensayos de la latencia sensitiva del nervio mediano fue -5,0 % a 11 % con coeficiente de correlación intraclase de 0,95 para la diferencia con el nervio cubital. El cambio mínimo detectable fue de 0,2ms. La clasificación ele trofisiológica coincidió en 93 % de los casos, índice de kappa de 0,89. Conclusiones Las latencias sensitivas y motoras del nervio mediano así como la diferencia de estas con el nervio cubital son medidas confiables. El cambio mínimo detectable obtenido en nuestro estudio le sirve al clínico para establecer si los cambios de las latencias en estudios consecutivos o después del tratamiento son significativos.(AU)

ABSTRACT Objective To determine the reliability of neuroconduction studies by comparing two observers and detecting minimum changes when diagnosing carpal tunnel syndrome. Methods Sixty-nine patients referred for electrophysiological study due to suspected carpal tunnel syndrome were studied. The patients underwent two examinations, performed by two evaluators, on two different days. Sensory and motor latencies of the median and ulnar nerves were evaluated; all were classified as negative, incipient, mild, moderate, severe or extreme. Relative interval variation, intraclass correlation coefficient, kappa index, limit of agreement and minimum detectable change were estimated. Results The relative variation of motor nerve latency of the median nerve was -6.8% to 15.9%, with intraclass correlation coefficient of 0.98 for the difference of median-ulnar nerve latency. The minimum detected change was 0.4ms, while the relative interval variation of sensory latency of the median nerve was -5.0% to 11%, with intraclass correlation coefficient of 0.95 for difference with the ulnar nerve. The minimum detectable change was 0.2ms. Electrophysiological classification agreed in 93% of the cases, with a kappa index of 0.89. Conclusions Sensory and motor latencies of the median nerve, as well as the difference between them and the ulnar nerve, are reliable measures. The minimum detectable change obtained in our study helps clinicians to establish whether changes in latencies in consecutive or post-treatment studies are significant.(AU)

[Reliability of neuroconduction studies in carpal tunnel syndrome]. / Confiabilidad de los estudios de neuroconducción en el síndrome de túnel carpiano.

OBJECTIVE: To determine the reliability of neuroconduction studies by comparing two observers and detecting minimum changes when diagnosing carpal tunnel syndrome. METHODS: Sixty-nine patients referred for electrophysiological study due to suspected carpal tunnel syndrome were studied. The patients underwent two examinations, performed by two evaluators, on two different days. Sensory and motor latencies of the median and ulnar nerves were evaluated; all were classified as negative, incipient, mild, moderate, severe or extreme. Relative interval variation, intraclass correlation coefficient, kappa index, limit of agreement and minimum detectable change were estimated. RESULTS: The relative variation of motor nerve latency of the median nerve was -6.8% to 15.9%, with intraclass correlation coefficient of 0.98 for the difference of median-ulnar nerve latency. The minimum detected change was 0.4ms, while the relative interval variation of sensory latency of the median nerve was -5.0% to 11%, with intraclass correlation coefficient of 0.95 for difference with the ulnar nerve. The minimum detectable change was 0.2ms. Electrophysiological classification agreed in 93% of the cases, with a kappa index of 0.89. CONCLUSIONS: Sensory and motor latencies of the median nerve, as well as the difference between them and the ulnar nerve, are reliable measures. The minimum detectable change obtained in our study helps clinicians to establish whether changes in latencies in consecutive or post-treatment studies are significant.

OBJETIVO: Determinar la confiabilidad entre dos observadores y el cambio mínimo detectable de los estudios de neuroconducción para diagnosticar el síndrome de túnel carpiano. MÉTODOS: Se estudiaron 69 pacientes remitidos para estudio electrofisiológico por sospecha de síndrome de túnel carpiano. A los pacientes, se les realizaron dos exámenes, dos días diferentes, por dos evaluadores. Se evaluaron las latencias sensitivas y motoras de los nervios mediano y cubital; todos fueron clasificados como negativos, incipientes, leves, moderados, severos o extremos. Se calculó la variación relativa entre ensayos, el coeficiente de correlación intraclase, el índice de kappa, el límite de acuerdo y el cambio mínimo detectable. RESULTADOS: La variación relativa entre ensayos de la latencia motora del nervio mediano fue de -6,8 % a 15,9 % con coeficiente de correlación intraclase de 0,98 para la diferencia con la latencia del nervio cubital. El cambio mínimo detectable fue de 0,4ms. La variación relativa entre ensayos de la latencia sensitiva del nervio mediano fue -5,0 % a 11 % con coeficiente de correlación intraclase de 0,95 para la diferencia con el nervio cubital. El cambio mínimo detectable fue de 0,2ms. La clasificación ele trofisiológica coincidió en 93 % de los casos, índice de kappa de 0,89. CONCLUSIONES: Las latencias sensitivas y motoras del nervio mediano así como la diferencia de estas con el nervio cubital son medidas confiables. El cambio mínimo detectable obtenido en nuestro estudio le sirve al clínico para establecer si los cambios de las latencias en estudios consecutivos o después del tratamiento son significativos.

First multi-reactive dextran-based inisurf for atom transfer radical polymerization in miniemulsion.

A multi-reactive polysaccharide-based inisurf (acting both as initiator and stabilizer) has been designed for the first time from dextran with the aim of preparing dextran-covered nanoparticles with covalent linkage between core and coverage. This inisurf was used for polymerizing butyl acrylate in miniemulsion by AGET-ATRP. Both hydrophobic phenoxy groups and initiator groups (bromoisobutyryl ester) were introduced within hydrophilic dextran chain, conferring it amphiphilic and macroinitiator characters. Amphiphilic properties of dextran inisurfs have been evidenced as well as their ability to stabilize the direct miniemulsion of n-butyl acrylate. After optimization of polymerization conditions with model studies, assays were successfully realized with dextran-based inisurfs. Because of their amphiphilic character, inisurfs migrated at oil/water interface and initiated polymerization from bromoisobutyryl ester groups. Therefore graft copolymers were produced at oil/water interface, due to the multifunctional character of these inisurfs and constituted the particle inner core with covalent links to the dextran coverage.

Agreement among musculoskeletal pediatric specialists in the assessment of radiographic joint damage in juvenile idiopathic arthritis.

OBJECTIVE: To evaluate agreement among musculoskeletal pediatric specialists in assessing radiographic joint damage in juvenile idiopathic arthritis (JIA). METHODS: Two pediatric rheumatologists, 2 pediatric radiologists, and 2 pediatric orthopedic surgeons evaluated independently 60 radiographs of both wrists and hands of children with polyarticular-course JIA. Films were scored using an adapted and simplified version of the Larsen score, ranging from 0-5. Study radiographs were selected from 568 films used in a previous study aimed to validate an adapted pediatric version of the Sharp/van der Heijde (SHS) score. To enable comparison of specialists' scores with the adapted SHS score, the 60 radiographs were divided into 6 classes of severity of damage based on quintiles of the adapted SHS score. Agreement was evaluated in terms of absolute agreement and through weighted kappa statistics. RESULTS: The pediatric radiologists tended to assign lower scores and to provide more frequently scores of 0 than did the other specialists. Weighted kappa for the 3 pairs of specialists ranged from 0.67-0.69, indicating substantial agreement. Absolute agreement ranged from 51.3-55.7%, depending on the pair of specialists examined. Both absolute and weighted kappa concordance between specialists' scores and the adapted SHS score were poorer for the pediatric radiologist than for the other specialists. CONCLUSION: We observed fair agreement in the assessment of radiographic damage among pediatric specialists involved in the care of children with JIA. The radiologists tended to be more reserved than the rheumatologists and orthopedic surgeons in labeling radiographs as damaged or in considering changes as important.

[Brain hemorrhage in a patient with Kawasaki disease]. / Hemorragia cerebral en un paciente con enfermedad de Kawasaki.

Kawasaki disease is an acute, self-limiting vasculitis of unknown origin, characterized by fever, palms and soles edema, cervical lymphadenopathy, strawberry tongue, and non-exudative conjunctivitis. It is a multisystemic vasculitis that affects predominantly infants and young children. The most feared complication is the development of coronary aneurysms that occurs up to 25% of untreated patients; however there are reports of extra coronary involvement. Herein we present the case of a 2 year-old girl who had a severe symptomatology and persistent fever despite intravenous gammaglobulin. Two years later she presented right hemiparesia and headache, with data from CAT and MRI suggestive of brain mass and deviation of the midline, secondary to left frontoparietal haemorrhage that was treated with a craniotomy. She was discharged on prednisone, ASA and rehabilitation.

[Kawasaki Disease and Henoch-Schönlein Purpura: Frequent Vasculitis in an Infrequent Association]. / Enfermedad de Kawasaki y p˙rpura de Henoch-Schˆnlein: vasculitis frecuentes en una asociaciÛn infrecuente.

Henoch-Schönlein Purpura (HSP) and Kawasaki disease (KD) are the most frequent systemic vasculitis in childhood. Both diseases are clearly distinct and easily distinguishable. Despite their high frequency, the coexistence of both diseases in the same patient is very rare. The diagnosis of these two diseases is based on clinical features, but sometimes it may be difficult, since signs and symptoms can be atypical and occasionally there are overlapping features among different forms of vasculitis. We present a 5 year-old boy who showed KD and three years later he developed HSP. We discuss similarities and differences between these two systemic vasculitic diseases and make a review of the literature of the few cases reported where KD and PHS have coexisted. Although rare, these two diseases can be present in the same patient and should be treated accordingly.

Intravenous immunoglobulin treatment for macrophage activation syndrome complicating chronic granulomatous disease.

OBJECTIVES: Chronic granulomatous disease is a rare phagocyte disorder characterized by an increased susceptibility to infections and inflammatory complications. We describe two patients with chronic granulomatous disease (CGD) complicated by macrophage activation syndrome (MAS) (secondary hemophagocytic lymphohistiocytosis) treated with intravenous immunoglobulin (IVIG). METHODS: A report of two cases of CGD complicated by MAS who were successfully treated with IVIG was made, and a comparison was made with ten other cases reported in the literature. RESULTS: MAS is a severe potentially fatal complication of CGD. Most cases are associated with Burkholderia cepacia and leishmaniasis infection. The treatment of these patients varies between centers, and one example is the use of the HLH-2004 protocol. IVIG could be an effective first line option for this complication in CGD patients. CONCLUSIONS: The exaggerated inflammatory response characteristic of CGD patients could play a role in the development of this complication. IVIG appears to be a safe and effective first line treatment in these patients.

Treatment of Kimura disease with intravenous immunoglobulin.

Kimura disease is an uncommon chronic inflammatory condition of unknown etiology and is characterized by painless subcutaneous nodules, usually affecting the head and neck, eosinophilia, and markedly elevated immunoglobulin E levels. Several reports have described the main modalities of treatment; both corticosteroids and surgery have provided good results, but occasionally corticosteroids cannot be tapered as the disease flares up. We report here the case of an 8-year-old boy diagnosed with Kimura disease who was successfully treated with 1 dose of intravenous immunoglobulin as a steroid-sparing agent.

Agreement between multi-dimensional and renal-specific response criteria in patients with juvenile systemic lupus erythematosus and renal disease.

OBJECTIVES: To evaluate change over time and level of agreement of renal-specific and multi-dimensional measures in juvenile systemic lupus erythematosus (SLE) with renal disease. METHODS: An analysis was made of 205/557 children with baseline 24-hour proteinuria >or=0.5 g. Data were collected at baseline, 6-, 12- and 24-month intervals. Using the Systemic Lupus International Collaborating Clinics (SLICC) renal index (change in proteinuria and urine sediment) as gold standard, responsiveness and discriminative ability analyses were used to identify key renal and multi-dimensional disease activity and damage measures for the evaluation of response to therapy. We also evaluated the kappa agreement between SLICC renal index and PRINTO/ACR juvenile SLE criteria (change in proteinuria, physician and parents evaluations, disease activity, health related quality of life [HRQOL]). RESULTS: Children with renal disease compared to children without renal disease, had a lower female rate and higher disease activity/response rate (p-values <0.01) but similar damage levels. Large responsiveness (standardised response mean >or=0.8) and statistical significant discriminative ability with the SLICC renal index 4 levels of response (improved, partially improved, stable and worsened) were observed for renal specific measures (proteinuria, urine sediment, renal sub-scores, p<0.0001) and for multi-dimensional variables (disease activity level and physician evaluation p<0.001). Agreement between the SLICC renal index and PRINTO/ACR criteria was moderate (0.57; 95% confidence intervals: 0.44-0.71). CONCLUSIONS: We propose to incorporate multi-dimensional measures (physician and parents' evaluations, disease activity and HRQOL), in addition to renal specific measures, in future clinical trials in juvenile SLE with renal involvement.