Recomendaciones de tratamiento y seguimiento en pacientes con amiloidosis hereditaria mediada por transtirretina / Recommendations for treatment and follow-up in patients with transthyretin-mediated hereditary amyloidosis

Resumen Introducción: La amiloidosis hereditaria mediada por transtirretina es una enfermedad autosómica dominante, con compromiso sistémico y progresivo, que altera la función de múltiples órganos, y se asocia con una alta morbilidad y mortalidad. Se presenta compromiso neurológico, cardiaco, autonómico, oftalmológico y nefrológico, entre otros, que se relacionan con el genotipo del paciente. Estas alteraciones afectan la calidad de vida y tienen una relación directa con la mortalidad temprana en estos pacientes. La neuropatía periférica es un marcador temprano de la enfermedad. Su identificación permite un tratamiento temprano con terapias modificadoras de la enfermedad, en busca de la estabilización de la progresión de la enfermedad, lo cual, acompañado de un seguimiento adecuado, tiene un impacto positivo en la calidad de vida de los pacientes y una prolongación de la expectativa de vida. Objetivo: Estructurar una serie de recomendaciones adecuadas al entorno local sobre el tratamiento y seguimiento en pacientes con amiloidosis hereditaria mediada por transtirretina. Materiales y método: Se utilizó la metodología Delphi y se estableció como punto de corte un 75% de favorabilidad. Resultados y conclusiones: Se plantearon una serie de recomendaciones basadas en la evidencia disponible y las recomendaciones internacionales, aplicables al entorno local, sobre métodos diagnósticos que faciliten la detección temprana del paciente afectado y los parámetros de inicio del tratamiento y el seguimiento que mejoren la calidad de vida, disminuyan las complicaciones y aumenten la expectativa de vida de estos pacientes.

Abstract Introducción: Transthyretin-mediated hereditary amyloidosis is an autosomal dominant disease with progressive systemic involvement that affects the function of multiple organs and is associated with high morbidity and mortality. Patients present neurological, cardiac, autonomic, ophthalmological and renal involvement, among others, related to the patient's genotype. These alterations affect quality of life and are directly related to early mortality. Peripheral neuropathy is an early marker of the disease. Its identification allows early treatment with disease-modifying therapies aimed at stabilizing disease progression, which, along with adequate follow-up, has a positive impact on patients' quality of life and prolongs life expectancy. Objective: To structure a series of recommendations appropriate to the local setting on treatment and follow-up in patients with hereditary transthyretin-mediated amyloidosis. Materials and methods: Delphi methodology was used, and a cut-off point of 75% favorability was established. Results and conclusions: A series of recommendations were presented based on the available evidence and international recommendations, applicable to the local setting, on diagnostic methods that facilitate early detection of the affected patient and the parameters for initiation of treatment and follow-up that improve the quality of life, decrease complications, and increase the life expectancy of these patients.

Enfermedades de origen laboral en docentes escolares: una revisión sistemática / Occupational Diseases in School Teachers: A Systematic review

Introducción. La docencia es una de las principales profesiones vinculadas con el desarrollo de una sociedad; como cualquier labor, se encuentra expuesta a diferentes factores de riesgo que pueden generar una enfermedad de origen laboral. Objetivo. Identificar y caracterizar la literatura actual que presente las principales enfermedades de los docentes escolares como consecuencia de su trabajo y/o las condiciones laborales. Materiales y Métodos. Revisión sistemática con búsqueda en las bases de datos Academic Search Complete (EBSCOHOST), APA - PSYCNET, ERIC (Education Resources Information Center), MEDLINE (PubMed), SCOPUS y Open Grey. Se realiza selección pareada independiente bajo criterios de inclusión y análisis de forma narrativa, incluyendo generalidades, información de la enfermedad y desenlaces en docentes. Resultados. Se incluyeron 47 estudios, de los cuales el 25,5 % fueron publicados en 2015; Brasil fue el país con mayor aporte temático. La mayoría de los estudios agrupó a los docentes escolares sin distinción de su ciclo (primaria, bachillerato y media). Las principales enfermedades identificadas fueron trastornos de la voz 51,1 %, musculoesqueléticos 23,4 % y psicosociales 21,3 %. Adicionalmente, se identificó que al menos el 50 % de los reportes por país estuvieron relacionados con trastornos de la voz; Brasil e India fueron los países de mayor representatividad. Conclusiones. Las principales enfermedades laborales docentes fueron las relacionadas con trastornos de la voz, musculoesqueléticos y psicosociales; a su vez, estas se relacionan con riesgos físicos, condiciones de seguridad, riesgos biomecánicos y psicosociales en el contexto escolar.

Introduction. Teaching is one of the main professions linked to the development of a society, and like any other labor it is exposed to different risk factors that can generate an occupational disease. Objective. To identify and characterize the current literature on the main illnesses suffered by schoolteachers as a result of their work and/or working conditions. Methodology. Systematic review with search in the databases Academic Search Complete (EBSCOHOST), APA - PSYCNET, ERIC (Education Resources Information Center), MEDLINE (PubMed), SCOPUS and Open Grey. We performed independent paired selection under inclusion criteria and narrative analysis including generalities, disease information and outcomes in teachers. Results. Forty-seven studies were included, 25.5% of which were published in 2015, and Brazil was the country with the largest thematic contribution. Most of the studies grouped schoolteachers regardless of their cycle (primary, secondary and high school). The main illnesses identified were voice disorders 51.1%, musculoskeletal disorders 23.4% and psychosocial disorders 21.3%. In addition, it was found that at least 50% of the reports per country were related to voice disorders, with Brazil and India being the most representative. Conclusions. The main occupational illnesses identified were related to voice, musculoskeletal and psychosocial disorders; these in turn are related to physical, safety, biomechanical and psychosocial risks in the school context.

Ecografía neuromuscular en la diferenciación entre neuropatía porfírica desmielinizante y axonal / Neuromuscular ultrasound in the differentiation between demyelinating and axonal porphyric neuropathy

Introducción. Las porfirias son enfermedades hereditarias secundarias a mutación de genes que codifican para proteínas necesarias en el metabolismo de hemo, se presenta con una incidencia de 1:1700 y los ataques agudos sólo se presentan en 1% de estos, aún menos frecuente es la polineuropatía porfírica que clásicamente se ha descrito de características axonales, aunque se han reportado algunos casos de desmielinización primaria. Presentación de caso. Femenina de 26 años con antecedente de porfiria intermitente aguda quien presenta paresia distal en las 4 extremidades de predominio en miembros inferiores asociado a hipoestesia en bota y guante. Las neuroconducciones mostraban latencias prolongadas y disminución en las velocidades de conducción compatibles con desmielinización, la electromiografía evidenció denervación y reinervación. En la ecografía neuromuscular se encontraron nervios con área de corte transversal (CSA) normal o disminuido. Conclusión. El hallazgo de nervios con CSA normal o disminuido es poco probable en neuropatías desmielinizantes y compatible con degeneración axonal. La ecografía neuromuscular podría mejorar el rendimiento diagnostico de los estudios electrofisiológicos para diferencias polineuropatía primariamente axonal o desmielinizante.

Introduction. Porphyrias are hereditary diseases secondary to mutation of genes coding for proteins necessary for heme metabolism, occurring with an incidence of 1:1700 and acute attacks occur in only 1% of these, even less frequent is porphyric polyneuropathy which has been classically described as having axonal characteristics, although some cases of primary demyelination have been reported. Case presentation. A 26-year-old female with a history of acute intermittent porphyria presented with distal paresis in all 4 extremities, predominantly in the lower limbs, associated with hypoesthesia in the boot and glove. Neuroconductions showed prolonged latencies and decreased conduction velocities compatible with demyelination, electromyography showed denervation and reinnervation. Neuromuscular ultrasound showed nerves with normal or decreased cross-sectional area (CSA). Conclusion. The finding of nerves with normal or decreased CSA is unlikely in demyelinating neuropathies and compatible with axonal degeneration. Neuromuscular ultrasound could improve the diagnostic yield of electrophysiological studies for differences in primarily axonal or demyelinating polyneuropathy.

Caracterización neurofisiológica de la función de fibra pequeña en mujeres heterocigotas con enfermedad de Fabry / Neurophysiologic characterization of small fiber function in heterozigous women with Fabry disease

RESUMEN INTRODUCCIÓN: La enfermedad de Fabry (EF) es una enfermedad genética, causada por el déficit de la enzima alfa galactosidasa A (α-Gal A), lo que provoca la acumulación de glicoesfingolípidos en los tejidos. Sus manifestaciones clínicas son variables. Estudios en mujeres heterocigotas reportan la existencia de dolor neuropático como manifestación de neuropatía de fibra pequeña. OBJETIVO: Determinar la presencia de neuropatía de fibra pequeña en mujeres heterocigotas para la EF, mediante la prueba cuantitativa sensorial. MATERIALES Y MÉTODOS: Se evaluaron 33 mujeres heterocigotas para EF y 33 mujeres sanas, con características demográficas similares. A todas se les aplicó la prueba cuantitativa sensorial (Quantitative Sensory Testing por medio de la detección de umbrales de frío (Colà Detection Threshold), calor (Warm Detection Threshold), dolor inducido por calor (Heat-pain Detection Thresholds) y vibración (Vibratory Detection Threshold) en los miembros superior e inferior, utilizando un sistema asistido por computador versión IV (CASE IV, WR Medical Electronics Co., Stillwater, MN). Adicionalmente, al grupo de mujeres heterocigotas para EF, se le evaluó la percepción subjetiva de dolor neuropàtico mediante el cuestionario de síntomas sensitivos neuropáticos positivos (Positive Neuropathic Sensory Symptom). Los resultados de la prueba cuantitativa sensorial se compararon entre los grupos. También se estableció la correlación entre la prueba cuantitativa sensorial y los resultados del cuestionario de síntomas sensitivos neuropáticos positivos. RESULTADOS: Se encontró una diferencia estadísticamente significativa en las pruebas de vibración (p = 0,008), calor (p = 0,017) y dolor inducido por calor (p = 0,04) en el miembro inferior en las mujeres heterocigotas para EF, comparado con el grupo control. Se encontró una correlación inversa estadísticamente significativa entre la intensidad del dolor quemante y el dolor inducido por calor en el miembro inferior (p = 0,018, r = -0,48) y entre la intensidad del dolor al ser rozado o tocado y el dolor inducido por calor en el miembro inferior (p = 0,006, r = -0,49). CONCLUSIÓN: En las mujeres heterocigotas para EF, las pruebas objetivas para establecer la presencia de neuropatía de fibra pequeña son anormales en miembros inferiores y se correlacionan con los síntomas sensitivos.

SUMMARY INTRODUCTION: Fabry disease is a genetic condition caused by alpha-galactosidase A deficiency triggering glycosphingolipid accumulation in tissues. Clinical manifestations are variable. Studies in heterozigous females report the existence of neuropathic pain as manifestation of small fiber neuropathy. OBJECTIVE: To determine presence of small fiber neuropathy in heterozigous females with Fabry disease through Quantitative Sensory Testing (QST). MATERIALS AND METHODS: 33 heterozigous females with fabry disease and 33 healthy females with similar demographic characteristics were evaluated. QST was performed to every female evaluating Cold detection Threshold (CDT), Warm Detection Threshold (WDT), Heat-pain Detection Threshold (HPDT) and Vibratory Detection Threshold (VDT) in upper and lower limbs through Computer Assisted Sensory Examination software (CASE IV, WR Medical Electronics Co., Stillwater, MN). Subjective perception of neuropathic pain was measured through Positive Neuropathic Sensory Symptom questionnaire (P-NSS) in heterozigous females with Fabry disease. QST results were compared between groups. Correlations between QST and P-NSS were established. RESULTS: Statistically significant differences were observed in VDT (p= 0,008), WDT (p= 0,017) and HPDT (p= 0,04) in lower limbs of heterozigous females with Fabry disease compared with control group. Negative correlation was found among burning pain intensity and HPDT at lower limbs (p= 0,018, r= -0,48) and among pain intensity to light touch and HPDT in lower limbs (p= 0,006, r=-0,49). CONCLUSIONS: Objective tests to establish presence of small fiber neuropathy in heterozigous females with Fabry disease are abnormal at lower limbs and correlate with sensory symptoms.

Eritrocitosis secundaria a cardiopatía congénita como causa de pseudohipercalemia / Secundary erithrocitosis from congenital heart disease as a cause of pseudohiperkalemia

Resumen El potasio es, sin lugar a duda, uno de los componentes más importantes del balance hidroelectrolítico, además de ser uno de los exámenes de laboratorio más solicitados en el ámbito clínico. La hipercalemia se define por un valor sérico mayor a 5.5 mEq/L y su principal diagnóstico diferencial es la pseudohipercalemia o hipercalemia espuria. Esta se define como elevación del potasio solo en componente sérico y no plasmático con una diferencia mínima de 0.5 mEq/L. Entre las causas de pseudohipercalemia se encuentran factores mecánicos, químicos, contaminantes, temperatura y tiempo de procesamiento de la muestra. Se reporta el caso de un paciente masculino de 22 años de edad, con antecedentes de cardiopatía cianosante, que cursa con elevación espuria de potasio en suero, con aumento aislado severo del hematocrito y trombocitopenia concomitante, que luego mostraría valores normales en plasma.

Abstract Potassium is, without a doubt, one of the most important components of hydroelectrolitic balance, as well as being one of the most requested laboratory exams in the clinical setting. Hyperkalemia is defined as serum value above 5.5 mEq/L, and its main differential diagnosis is pseudohyperkalemia or spurious hyperkalemia. This conditioned is defined as an elevation of potassium levels exclusively in serum and not in plasma, with a minimal difference of 0.5 mEq/L between these measurements. Some of the causes of pseudohyperkalemia include mechanical factors, chemicals, contaminants, temperature and the time of sample processing. It is reported the case of a 22-year-old male with history of cyanotic heart disease that presented with a spurious elevation of serum potassium, with a severe increment in hematocrit and concomitant thrombocytopenia, that would later show normal levels in plasma.

Correlation Nerve Conduction Studies with Findings of the Ultrasound of the Median Nerve in Patients with Carpal Tunnel Syndrome.

BACKGROUND: Ultrasonography is a diagnostic resource that serves as a complement in the evaluation of patients with carpal tunnel syndrome. The correlation of ultrasonography findings with nerve conduction studies can serve to classify new phenotypes and to evaluate therapeutic responses. OBJECTIVES: To determine the diagnostic sensitivity of ultrasound, the correlation between the diameter of the nerve (CSA) against the motor and sensitive latencies, and the capacity to differentiate the mild, moderate and severe degrees of the electrophysiological classification of carpal tunnel syndrome. METHODS: A cross-sectional study with prospective data collection was carried out. An ultrasonography system with a 15 MHz transducer was used. Nerve conduction studies of the median nerve were performed with conventional techniques. Data from the most symptomatic hand were used. Determination of the correlations of nerve diameter with motor and sensitive latencies of the median nerve was performed in four age groups: <40(n=11), 40-54 (n=47), 55-70 (n=42) y >70(n=27). RESULTS: A total of 127 patients were evaluated (average age = 58.2 years: minimum = 26; maximum = 85; SD = 13.4); 109 (85.8%) were female patients. According to the electrophysiological classification, 40 (31.5%) were mild ; 60 (47.2%) were moderate ; and 27 (21.3%) were severe . Significant differences in the area of the median nerve were found between the electrophysiological types (mild, moderate and severe; p = 0.000). The diagnostic sensitivity of ultrasonography differed for each age group. In general, the diagnostic sensitivity was high in patients with severe cases and low for mild cases. The capacity for ultrasonography to classify the degrees of electrophysiological severity was different for each age group. For patients above 70 years and in the age group of 40 to 54 years, the CSA did not differentiate the electrophysiologically moderate cases from the severe ones. CONCLUSION: There is a well-defined and significant correlation between nerve conduction studies and median nerve diameter in patients with Carpal Tunnel Syndrome. However, it shows that the exclusive use of the ultrasonographic measurement of the cross-sectional area through the inlet of the carpal tunnel would not be enough to confirm or rule out an entrapment of the median nerve through the carpal tunnel, nor to predict in every case their electrophysiological severity.

El límite de disfagia como prueba electromiográfica de detección del trastorno de deglución / Dysphagia limit as electromyographic test to detect swallowing disorders

Objetivo. Determinar la utilidad de la prueba electromiográfica conocida como 'límite de disfagia' en una cohorte de individuos con trastorno de deglución. Materiales y métodos. Se evaluaron 32 individuos sanos y 32 individuos con trastorno de deglución detectado mediante el cuestionario autosuministrado EAT-10 (Eating Assessment Tool-10), versión traducida y validada al español para Colombia. A todos los individuos se les aplicó la prueba límite de disfagia como método cuantitativo y no invasivo para evaluar la deglución mediante electromiografía de superficie con electrodos ubicados en el músculo submentalis y en el espacio cricotiroideo, utilizando un equipo de dos canales Cadwell Summit Sierra®. Se suministró agua cuyo volumen aumentó gradualmente: 5, 10, 15, 20 y 25 ml. Todos los sujetos fueron instruidos para deglutir el volumen total suministrado en un solo trago. Se determinó el número de pasos o bursts que requirió el individuo para ingerir todo el volumen de líquido. Los resultados de la prueba límite de disfagia se compararon entre los grupos. Se estableció correlación entre el EAT-10 y la prueba límite de disfagia. Se calculó la exactitud diagnóstica de la prueba límite de disfagia en cuanto sensibilidad, especificidad, valores predictivos, proporción de falsos positivos y fasos negativos. Resultados. Se encontró una buena exactitud diagnóstica de la prueba límite de disfagia para detectar trastorno de deglución. Se constató una correlación significativa entre el puntaje de la escala EAT-10 y el resultado de la prueba electrofisiológica límite de disfagia. Conclusión. Este estudio muestra que la prueba límite de disfagia tiene un buen rendimiento diagnóstico para detectar trastorno de deglución

Objective. To determine the usefulness of the electromyographic test known as the 'dysphagia borderline' in a cohort of individuals with swallowing disorder. Materials and methods. Thirty-two healthy individuals and 32 individuals with swallowing disorder detected by means of the self-supplied questionnaire EAT-10 (Eating Assessment Tool-10), a version translated and validated in Spanish for Colombia, were evaluated. All individuals underwent the dysphagia borderline test as a quantitative and non-invasive method to evaluate swallowing by means of surface electromyography with electrodes located in the submentalis muscle and in the cricothyroid space, using a two-channel Cadwell Summit Sierra® equipment. Water was supplied with gradually increasing volume: 5, 10, 15, 15, 20 and 25 ml. All subjects were instructed to swallow the total volume supplied in one gulp. The number of steps or bursts required by the individual to swallow the entire volume of liquid was determined. The results of the borderline dysphagia test were compared between groups. Correlations were established between the EAT-10 and the borderline dysphagia test. The diagnostic accuracy of the borderline dysphagia test was calculated in terms of sensitivity, specificity, predictive values, false-positive and false-negative rates. Results. A good diagnostic accuracy of the borderline dysphagia test for detecting swallowing disorder was found. A significant correlation was found between the EAT-10 scale score and the result of the electrophysiological borderline dysphagia test. Conclusion. This study shows that the borderline dysphagia test has a good diagnostic performance to detect swallowing disorder.

Terapia con ondas de choque extracorpóreas como alternativa no quirúrgica para el síndrome de túnel del carpo / Extracorporeal shock wave therapy as a non- surgical alternative for carpal tunnel syndrome

Recientemente se han postulado las ondas de choque extracorpóreas como tratamiento para el síndrome de túnel del carpo, el cual ha demostrado ser eficaz, no invasivo y con pocos efectos adversos. Mujer de 49 años con síndrome de túnel del carpo bilateral moderado de tres años de evolución, sin mejoría con el tratamiento convencional y con criterios para manejo quirúrgico. Sin embargo, ante la negativa de la paciente se propone manejo conservador con una sesión de ondas de choque extracorpóreas radiales con 5.000 descargas, a 4 Bar de intensidad y frecuencia de 15 Hz. Seis meses después de la intervención se documenta recuperación en los parámetros neurofisiológicos a nivel bilateral, pero clínica y funcionalmente solo hubo mejoría completa en la mano izquierda, registrando empeoramiento en la mano derecha; por tal razón se realizó liberación quirúrgica con buenos resultados. En la actualidad la paciente se encuentra asintomática en ambas manos. El tratamiento con ondas de choque radiales se constituye en una alternativa efectiva para el manejo conservador del síndrome de túnel del carpo leve a moderado. Los pacientes presentan buena tolerancia, garantizando la adherencia a la intervención.

Recently, extracorporeal shock waves have been postulated as a treatment for carpal tunnel syndrome, which has been shown to be effective, noninvasive and with few adverse effects. A 49-year-old woman with moderate bilateral carpal tunnel syndrome of three years of evolution, with no improvement with conventional treatment and with criteria for surgical management. However, due to the patient's refusal, conservative management was proposed with a session of extracorporeal radial shock waves with 5,000 shocks, at 4 Bar intensity and frequency of 15 Hz. Six months after the intervention, recovery in the neurophysiological parameters at bilateral level was documented, but clinically and functionally there was only complete improvement in the left hand, registering worsening in the right hand; for this reason, surgical release was performed with good results. At present the patient is asymptomatic in both hands. Radial shock wave therapy is an effective alternative for the conservative management of mild to moderate carpal tunnel syndrome. Patients present good tolerance, guaranteeing adherence to the intervention.

Rehabilitación intrahospitalaria en el paciente con Covid-19 / In-hospital rehabilitation in patients with Covid-19

La enfermedad Covid-19 se declaró pandemia en el mes de marzo de 2020. Sus manifestaciones clínicas son variadas: desde pacientes asintomáticos hasta enfermedad respiratoria severa y falla multiorgánica, lo cual puede conducir a la muerte. Los pacientes con enfermedad severa o crítica que requieren hospitalización en la unidad de cuidados intensivos (UCI), pueden presentar complicaciones directas o indirectas a las lesiones causadas por la infección, como el síndrome de des acondicionamiento físico, el síndrome post-UCI, entre otros. Se describe el abordaje de la evaluación y la rehabilitación en el paciente adulto hospitalizado con infección por Covid-19, con énfasis en la rehabilitación respiratoria. El presente documento se fundamenta en la literatura disponible actualmente y presenta recomendaciones dirigidas al escenario nacional.

Covid-19 disease was declared a pandemic in March 2020. Its clinical manifestations are varied: from asymptomatic patients to severe respiratory disease and multi-organ failure, which can lead to death. Patients with severe or critical illness who require hospitalization in the intensive care unit (ICU) may present direct or indirect complications to the lesions caused by the infection, such as the physical conditioning syndrome, post-ICU syndrome, among others. The approach to evaluation and rehabilitation in the hospitalized adult patient with Covid-19 infection is described, with emphasis on respiratory rehabilitation. This document is based on currently available literature and presents recommendations for the national setting.

Redox signaling in ischemic postconditioning protection involves PKCε and Erk1/2 pathways and converges indirectly in Nrf2 activation.

Ischemic-postconditioning (iPostC) exerts cardioprotection by preserving redox homeostasis in the reperfused heart. This protective effect has been associated with the activation of endogenous antioxidant response driven by transcription factor Nrf2 and with the activation of 'reperfusion injury salvage kinases' (RISK) as PI3K, PKC and Erk1/2. Redox homeostasis is essential for normal cell physiology since reactive oxygen species (ROS) are crucial for processes that involve protein signaling. Thus, it has become clear that not only the perturbation of redox balance to oxidative state is deleterious but also towards a reductive state contributing to pathogenesis of diseases. However, there is still a scarce knowledge about the role of ROS in the cardioprotective signals mediated by RISK in postconditioned hearts. Therefore, we studied the role of ROS as initiator of RISK signaling molecules in iPostC-conferred cardioprotection. With the aim to study the relationship between redox-dependent RISK activation and the downstream activation of the transcription factor Nrf2, we evaluated the effect of redox signaling disruption by the effect of ascorbic acid in iPostC hearts. Our results showed that PKCε and Erk1/2 activation is redox-dependent and that concurs downstream with Nrf2 deficient activation. Besides, using inhibitors we found that neither PI3K nor Erk1/2 are directly related with Nrf2 activation, indicating that these kinases have other targets. We conclude that redox signaling participates in cardioprotection triggered by iPostC through the action of kinase-dependent and -independent mechanisms and concurred with the downstream regulation of Nrf2-mediated antioxidant response to prolonged redox balance during long reperfusion.

Quiloperitoneo en diálisis peritoneal: reporte de caso y revisión sistemática de la literatura / Chyloperitoneum in peritoneal dialysis: a case report and review of literature

El quiloperitoneo es una condición infrecuente que se asocia a diálisis peritoneal; en la mayoría de los casos se puede confundir con peritonitis bacteriana, aunque puede ser la consecuencia de esta infección. Se reporta el desarrollo espontáneo de quiloperitoneo en un paciente de 54 años con enfermedad renal crónica secundaria a nefropatía diabética, en diálisis peritoneal manual desde hacía 5 años. El tratamiento consistió en suspensión temporal de la diálisis peritoneal, reposo intestinal, suministro de una dieta con alto contenido de ácidos grasos de cadena media e infusión de octreotide, con lo cual a los 10 días el paciente mostró mejoría, y se reinició la diálisis peritoneal. Una búsqueda sistemática de la literatura encontró 16 casos publicados (11 mujeres), con edades desde neonato hasta 88 años.

Chyloperitoneum is a rare condition associated with peritoneal dialysis. In most cases it is misdiagnosed as bacterial peritonitis, but it can also be a consequence of this infection. We present the spontaneous development of chyloperitoneum in a 54 year old patient with chronic kidney disease secondary to diabetic nephropathy, in manual peritoneal dialysis for 5 years. The treatment consisted of temporary suspension of peritoneal dialysis, bowel rest, supply of a diet with a high content of medium chain fatty acids and infusion of octreotide. After 10 days the patient showed improvement, and peritoneal dialysis was restarted. A systematic search of the literature found 16 published cases (11 women), ranging in age from newborn to 88 years.

Changes in electromyographic results of patients with lumbar radiculopathy: a follow-up study.

OBJECTIVE: To assess the neurophysiologic changes in a group of patients with lumbar radiculopathy 5 to 12 months after their first electromyographic examination. DESIGN: A prospective group of patients with a case definition of lumbar radiculopathy was reassessed between 5 and 12 months after their first clinical, functional, imaging, and neurophysiologic evaluation. Both the lumbar paraspinals (in which the mini-mapping technique was used) and the same lower limb muscles were explored in every patient. Relevant abnormalities were (1) positive sharp waves/fibrillation potentials, (2) polyphasic motor unit potentials, and (3) large-amplitude/long-duration motor unit potentials. Patients were sorted into 5 groups based on the type and distribution of neurophysiologic abnormalities: from 0 (no abnormalities) to 4 (denervation signs in 2 lower limb muscles and paraspinals). Patients' subjective perception of any improvement or worsening of their condition was also recorded. SETTING: A referral center for neurophysiologic evaluation. PARTICIPANTS: A consecutive sample of patients (N=91) with a clinical definition of lumbar radiculopathy (lumbar pain radiating down the leg and below the knee) referred for neurophysiologic assessment was selected for an initial clinical, functional, and neurophysiologic evaluation. Patients were called for a second evaluation (between 5 and 12mo). Thirty-eight (42% of the initial sample) were willing/eligible for the second evaluation. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Changes in (1) electromyographic results; (2) patients' subjective perception of pain; and (3) quality of life, based on the Roland-Morris Questionnaire and Medical Outcomes Study 36-Item Short-Form Health Survey scores. RESULTS: Paraspinal muscles were most frequently affected. Neurophysiologic abnormalities had improved on reassessment. Clinical improvement was more significant for those patients with initially abnormal electromyographic results. CONCLUSIONS: There was clinical as well as electromyographic improvement in patients with lumbar radiculopathy within the first year of the initial diagnosis.

Factor analysis of carpal tunnel syndrome questionnaire in relation to nerve conduction studies.

OBJECTIVE: This study aims to assess the Boston Carpal Tunnel Syndrome Questionnaire (BCTQ) structure and its relation to nerve conduction studies (NCS). METHODS: A total of 403 patients with clinical and/or electrophysiological definition of CTS were evaluated with the instrument. The structure of the questionnaire was assessed by means of factor analysis. Factors obtained were compared with NCS. RESULTS: Factor analysis showed that three factors represented nearly 60% of the variance of the instrument. Factor one is related to all the function domain questions and to the weakness and difficulty in grasping questions of the symptom domain; factor two to questions that assess numbness and tingling, and to the pain-awakening question of the symptom domain; and factor three, to pain questions of the symptom domain. Factor two had a stronger correlation with latencies of NCS and with the neurophysiological scale than the other two factors. CONCLUSIONS: BCTQ assesses function and symptoms in patients with CTS by means of questions related to numbness and tingling sensation, pain and functional status. Questions related to numbness and tingling (factor two) better reflected the pathophysiology of the median nerve. SIGNIFICANCE: Factor-2 sensory-related questions of BCTQ may be more useful in diagnosis, follow-up and assessing therapeutic outcome in CTS.

Natural evolution of carpal tunnel syndrome in untreated patients.

OBJECTIVE: To describe the clinical and electrophysiological evolution of a group of patients diagnosed with carpal tunnel syndrome (CTS) who have not undergone any type of treatment (injections, braces or surgery). METHODS: Clinical and electrophysiological monitoring was done consecutively in a series of patients who were admitted with a diagnosis of CTS. The average time for follow-up was 2 years. The Historic and objective Classification scale (HiOb) was used to establish the severity of the disease in the test group, and neuro conductions were done to determine the electrophysiological classification. RESULTS: A total of 132 patients were monitored. In 31 patients (23.4% of the cases), the HiOb classification deteriorated, 28.8% remained stable, and 47.6% showed recovery. In the nerve conduction studies, 10 cases (7.6%) exhibited electrophysiological deterioration, 67.4% remained constant and 25% improved. CONCLUSIONS: A significant percentage of patients with carpal tunnel syndrome had no change in their clinical and electrophysiological condition, while some improved spontaneously without treatment. SIGNIFICANCE: Given that most patients diagnosed with CTS remain stable or even improve over time, a conservative treatment may be all that is needed in a selection of patients with this disorder.

Granulomatosis de Wegener. Una enfermedad de varias caras / Wegener's granulomatosis. A disease with many faces

La granulomatosis de Wegener (GW) es una vasculitis de pequeños vasos de etiología desconocida y comúnmente asociada a anticuerpos anticitoplasma del neutrófilo (ANCA). Es un desorden multisistémico autoinmune caracterizado por inflamación granulomatosa necrotizante, necrosis de tejidos y grados variables de vasculitis. El patrón clínico clásico es una triada que involucra las vías aéreas superiores, pulmones y riñones; sin embargo, la GW es actualmente reconocida como una enfermedad sistémica altamente polimorfa que puede afectar cualquier órgano. El diagnóstico está basado en las manifestaciones clínicas, el resultado de biopsias de lesiones relacionadas y la positividad de títulos de ANCA. La gran mayoría de pacientes con vasculitis asociada a ANCA alcanzan el control temporáneo de la enfermedad con la terapia inmunosupresora actualmente disponible. Informamos cuatro nuevos casos de GW en Colombia.

Wegener's granulomatosis is a vasculitis of the small blood vessels. Its causes are unknown. It is commonly associated with anti-neutrophile cytoplasm antibodies (ANCA). It is a multi-systemic autoimmune disorder characterized by necrotizing granulomatous inflammation, necrotizing tissue and various grades of vasculitis. The classic clinical model is a triad involving the upper respiratory tract,lungs, and kidneys. However, Wegener's granulomatosis is currently recognized as a highly polymorphic systemic illness which can affect any organ. Diagnosis is based on clinical manifestations including biopsies of lesions and positive tests for ANCA. The great majority of patients with ANCA associated vasculitis can control the illness with currently available immunosuppressant therapy. We report on four case of Wegener's granulomatosis in Colombia.

Motor recovery after Guillain-Barré syndrome in childhood.

PURPOSE: To determine the clinical factors that modify the recovery time for gait after Guillain-Barré syndrome (GBS) in childhood. METHOD: Medical records of patients admitted to Instituto de Ortopedia Infantil Roosevelt (IOIR) between years 1991 and 2001, were reviewed. Age, sex, cranial nerve impairment, requirement of assisted ventilation, number of days of assisted ventilation, muscular strength at day 10 of the disease, presence of quadriplegia, intravenous infusion of human gamma globulins (IVIG), were taken as independent variables. The number of needed days to reach Hughes State III was taken as the major outcome. First, univariate analysis was performed and with the factors that showed a statistically significant association with recovery time, multiple linear regression analysis and Cox regression were also performed. RESULTS: Data of 332 children under 15 years old was collected. (Mean age: 7.1 years). A sample of 215 children was gathered for the study, all of them were regarded as functional states IV or V. Acute Motor Axonal Neuropathy (AMAN) was found in 30% of all cases. In the univariate analysis Cranial nerve impairment, requirement of assisted ventilation, presence of quadriplegia and presence of non-excitable motor nerves were associated with delayed motor recovery time. Patients who received IVIG reached Hughes state III faster than those who received only support treatment. This finding, that was more important in the presence of Acute Inflammatory Demyelinating Polyradiculoneuropathy (AIDP), lost its value in the Cox regression analysis. In the multivariate analysis, muscular strength, assessed at day 10 of the disease was the most important predictor to determine motor recovery. The presence of quadriplegia was strongly associated with a delayed recovery time. Relative risk: 3.3 (95% Confidence Interval 2.1 - 5.2). CONCLUSIONS: Muscular strength at day 10 of the disease is the most useful clinical factor to determine prognosis of motor recovery in children who have suffered Guillain-Barré syndrome.

Nefritis de la púrpura de Henoch-Schõnlein en adultos / Henoch-Schõnlein purpura nephritis in adults. On purpose of five cases in Colombia

La púrpura de Henoch-Schõnlein (PHS) define una vasculitis sistémica primaria de pequeños vasos caracterizada por el depósito de complejos inmunes con el predominio de la IgA en las paredes de los capilares, vénulas o arteriolas. Típicamente compromete piel, intestino, glomérulos y está asociada con artralgias o artritis. La PHS primariamente afecta a niños, y es menos común en adultos. Aunque la PHS ha sido extensamente estudiada en niños, es mucho menos conocida su historia natural en adultos. En adultos, sin embargo, la incidencia de PHS y la severidad de sus manifestaciones clínicas parecen no ser las mismas que en los niños. Informamos cinco casos de PHS en pacientes adultos...

Artritis reumatoide y nefropatía membranosa / Rheumatoid arthritis and membranous nephropathy

La artritis reumatoide (AR) es una enfermedad inflamatoria crónica de etiología desconocida caracterizada, ante todo, por poliartritis simétrica. Aunque la AR es definida frecuentemente por la presencia de complejos inmunes circulantes y factores reumatoides, el compromiso renal no es reconocido comúnmente. Dos categorías claras de desórdenes renales pueden ser distinguidos en AR: lesiones que ocurren como resultado de efectos secundarios de agentes terapéuticos y lesiones causadas por la enfermedad per se. Lesiones renales clínicamente relevantes en AR no son comunes. Más a menudo, el compromiso renal está relacionado con complicaciones de la terapia que con la enfermedad en sí misma. Las formas más frecuentes de enfermedad renal primaria en AR son la glomerulopatía membranosa (GM) y la glomerulonefritis proliferativa mesangial pura. Informamos el caso de un hombre de 40 años con antecedente de AR que desarrolló síndrome nefrótico (SN) y nefritis intersticial aguda en presencia de una GM...