Lipofuscinosis ceroidea neuronal. Variante infantil tardía de tipo 6 en dos hermanos heterocigotos compuestos con mutaciones nuevas / Neuronal ceroid lipofuscinosis. Type 6 late infantile variant in two compound heterozygous siblings with novel mutations

Introducción: Existen 14 formas de lipofuscinosis. La de tipo 6, en su forma infantil tardía, comienza entre los 3 y 8 años con alteraciones motoras, mioclonos, disartria, ataxia, pérdida de la visión y las habilidades motoras, y muerte temprana. Ocurre por mutaciones en el gen CLN6. La mayoría de los pacientes presenta variantes en estado homocigoto, asociadas a consanguinidad o endogamia, y son poco frecuentes las variantes en estado heterocigoto compuesto. Casos clínicos: Hermanos con síntomas desde los 4 y 5 años, con marcha inestable, caídas frecuentes, posteriormente pérdida de la marcha, mioclonías, disfagia y alucinaciones visuales. En el examen físico presentaban atrofia del nervio óptico, Babinski y ataxia del tronco. El electroencefalograma mostraba brotes de ondas lentas generalizadas, sin respuesta fotoparoxística, y la resonancia magnética de cráneo, hiperintensidad de la sustancia blanca periventricular, y atrofia cerebelosa y cortical. El panel de lipofuscinosis reveló dos mutaciones nuevas en el gen CLN6, c.552del y c.244G>C (p.Gly82Arg), no descritas previamente. La madre resultó portadora de la deleción 552, y el padre y la abuela paterna, de la sustitución G>C (Gly82Arg). Conclusiones: El diagnóstico diferencial en los trastornos con neurorregresión se dificulta debido a que los signos clínicos son inespecíficos, similares a otras epilepsias mioclónicas progresivas. Presentamos los hallazgos clínicos en dos hermanos mexicanos con la variante infantil tardía de CLN6 por dos mutaciones heterocigotas nuevas que contribuyen al conocimiento de las mutaciones en la población mexicana y señalan la relevancia de realizar estudios genéticos aplicando la secuenciación de nueva generación para permitir un adecuado asesoramiento.(AU)

Introduction: There are 14 forms of lipofuscinosis, among them type 6 in its late childhood form is found, it starts between three and eight years with epilepsy, motor disorders, myoclonus, dysarthria, ataxia and neurological regression associated with vision loss and motor skills, and early death. It occurs from mutations in the CLN6 gene, most patients have homozygote variants associated with consanguinity, and rarely, with compound heterozygote variants. Case report: Siblings, started at 4 and 5 years each, with unstable gear, frequent falls and difficult running. Subsequently, loss of gait, myoclonus, dysphagia, and hallucinations. On physical examination, present optic nerve atrophy, Babinski and trunk ataxia. Electroencephalogram with widespread slow wave bursts during non-REM sleep, non photoparoxystic response, MRI with periventricular white substance hyperintensity, cerebellar atrophy and cortical. Panel of lipofuscinosis report two mutations, c.552del and c.244G>C, not described previously, in both patients. The mother was the carrier of the 552 deletion and the father and paternal grandmother of the G>C substitution (Gly82Arg). Conclusions: Differential diagnosis in neuroregression disorders is difficult because clinical signs are nonspecific, like many other neurodegenerative disorders with progressive myoclonic epilepsy. We report the clinical findings in two Mexican siblings with the late childhood variant of CLN6 with two new heterozygote mutations that contribute to the knowledge of mutations in the Mexican population and point out the relevance of performing next-generation genetic sequencing studies which will allow a better genetic counseling practice.(AU)

[Neuronal ceroid lipofuscinosis. Type 6 late infantile variant in two compound heterozygous siblings with novel mutations]. / Lipofuscinosis ceroidea neuronal. Variante infantil tardía de tipo 6 en dos hermanos heterocigotos compuestos con mutaciones nuevas.

INTRODUCTION: There are 14 forms of lipofuscinosis, among them type 6 in its late childhood form is found, it starts between three and eight years with epilepsy, motor disorders, myoclonus, dysarthria, ataxia and neurological regression associated with vision loss and motor skills, and early death. It occurs from mutations in the CLN6 gene, most patients have homozygote variants associated with consanguinity, and rarely, with compound heterozygote variants. CASE REPORT: Siblings, started at 4 and 5 years each, with unstable gear, frequent falls and difficult running. Subsequently, loss of gait, myoclonus, dysphagia, and hallucinations. On physical examination, present optic nerve atrophy, Babinski and trunk ataxia. Electroencephalogram with widespread slow wave bursts during non-REM sleep, non photoparoxystic response, MRI with periventricular white substance hyperintensity, cerebellar atrophy and cortical. Panel of lipofuscinosis report two mutations, c.552del and c.244G>C, not described previously, in both patients. The mother was the carrier of the 552 deletion and the father and paternal grandmother of the G>C substitution (Gly82Arg). CONCLUSIONS: Differential diagnosis in neuroregression disorders is difficult because clinical signs are nonspecific, like many other neurodegenerative disorders with progressive myoclonic epilepsy. We report the clinical findings in two Mexican siblings with the late childhood variant of CLN6 with two new heterozygote mutations that contribute to the knowledge of mutations in the Mexican population and point out the relevance of performing next-generation genetic sequencing studies which will allow a better genetic counseling practice.

TITLE: Lipofuscinosis ceroidea neuronal. Variante infantil tardía de tipo 6 en dos hermanos heterocigotos compuestos con mutaciones nuevas.Introducción. Existen 14 formas de lipofuscinosis. La de tipo 6, en su forma infantil tardía, comienza entre los 3 y 8 años con alteraciones motoras, mioclonos, disartria, ataxia, pérdida de la visión y las habilidades motoras, y muerte temprana. Ocurre por mutaciones en el gen CLN6. La mayoría de los pacientes presenta variantes en estado homocigoto, asociadas a consanguinidad o endogamia, y son poco frecuentes las variantes en estado heterocigoto compuesto. Casos clínicos. Hermanos con síntomas desde los 4 y 5 años, con marcha inestable, caídas frecuentes, posteriormente pérdida de la marcha, mioclonías, disfagia y alucinaciones visuales. En el examen físico presentaban atrofia del nervio óptico, Babinski y ataxia del tronco. El electroencefalograma mostraba brotes de ondas lentas generalizadas, sin respuesta fotoparoxística, y la resonancia magnética de cráneo, hiperintensidad de la sustancia blanca periventricular, y atrofia cerebelosa y cortical. El panel de lipofuscinosis reveló dos mutaciones nuevas en el gen CLN6, c.552del y c.244G>C (p.Gly82Arg), no descritas previamente. La madre resultó portadora de la deleción 552, y el padre y la abuela paterna, de la sustitución G>C (Gly82Arg). Conclusiones. El diagnóstico diferencial en los trastornos con neurorregresión se dificulta debido a que los signos clínicos son inespecíficos, similares a otras epilepsias mioclónicas progresivas. Presentamos los hallazgos clínicos en dos hermanos mexicanos con la variante infantil tardía de CLN6 por dos mutaciones heterocigotas nuevas que contribuyen al conocimiento de las mutaciones en la población mexicana y señalan la relevancia de realizar estudios genéticos aplicando la secuenciación de nueva generación para permitir un adecuado asesoramiento genético.

Single dose of propofol causing propofol infusion syndrome in a newborn.

Propofol infusion syndrome (PRIS) is a rare syndrome originally described in critically ill children undergoing long-term (> 48 h) propofol infusion at high doses (> 4 mg/kg/h). Severe metabolic acidosis, rhabdomyolysis, renal failure and fatal cardiac failure are the features. Herein, we present a case of a newborn who developed PRIS after a single bolus dose of propofol at 3.2 mg/kg/do, developing rhabdomyolysis and severe metabolic acidosis, with a successful outcome after medical therapy.

Tono muscular: consideraciones generales. Revisión / Muscle tone: general considerations. Review

Introducción: La medición del tono muscular proporciona una información fundamental para realizar el diagnóstico diferencial, pronóstico y el tratamiento de los trastornos músculo esqueléticos y neuromusculares, pudiéndose considerar como un importante factor pronóstico de la evolución de determinadas patologías. Objetivos: Realizar una descripción actualizada de los distintos métodos de evaluación del tono muscular. Material y Métodos: Se procedió a realizar una búsqueda bibliográfica en las bases de datos Pubmed (MEDLINE), Sciencedirect (Scopus) y ISI Web of Knowledge, utilizando los términos «muscle tone», «muscle tonus», «stiffness», «measurement», «myotonometer», «reliability» y «validity», solos o combinados entre sí. Resultados: Estudio de revisión sistemática, retrospectivo, con una muestra de análisis bibliográfico integrado por 52 artículos (n=52) que cumplieron los criterios de selección llevado a cabo en dos fases de análisis, lo cual supuso el 8,9% del total de artículos encontrados (n=578) y el 17,50% de los artículos que cumplieron los criterios de selección (n=297) (inclusión y exclusión). La medición de determinadas propiedades musculares, como son el tono, la elasticidad y la rigidez (stiffness) aportan una información relevante sobre el estado funcional del músculo. Los dispositivos utilizados en la actualidad para la cuantificación del tono muscular son variados y de novedosa tecnología, sin olvidar los tradicionales tests manuales y escalas nominales, como la de Asworth. Conclusiones: La medición del tono muscular es una herramienta evaluadora de gran importancia. Los nuevos dispositivos empleados para evaluar el tono muscular suponen un paso más respecto a los métodos tradicionales, ya que son capaces de medir tres características del músculo como la frecuencia de oscilación natural, la elasticidad y la rigidez de forma simultánea (AU)

Introduction: The measurement of the muscle tone provides important information, in order to render the differential diagnosis, prognosis and treatment of the musculoskeletal and neuromuscular disorders. It can be considered as an important prognostic factor in the evolution of certain pathologies. Objective: To perform an actualised description of the different examination methods of the muscle tone. Material and methods: A bibliographic research was performed in databases such as PubMed (MEDLINE), Sciencedirect (Scopus) and ISI Web of Knowledge, using terms like «muscletone», «muscletonus», «stiffness», «measurement», «myotonometer», «reliability» and «validity», alone or combined. Results: Systematic review trial, retrospective, with a sample of bibliographic analysis, including 52 articles (n=52) that satisfied the selection criteria carried out in two phases of analysis, which meant 8.9% of all founded articles (n=578) and 17.50% of the articles which fulfilled the selection criteria (n=297) (inclusion and exclusion). Measurement of specific muscular areas, such as tone, elasticity and stiffness, provide relevant information about the functional state of the muscle. The devices used nowadays for the quantification of the muscle tone are varied and of latest technology, but without forgetting the traditional manual tests and nominal scales, such as Asworth's. Conclusions: The measurement of the muscle tone is an examination tool of great importance. The new devices that are used to examine muscle tone represent a forward step with regard to the traditional methods, since they are capable of measuring simultaneously three characteristics of the muscle, such as natural oscillation frequency, elasticity and stiffness (AU)

La Fibromialgia: consideraciones Generales. Revisión / Fibromyalgia: general considerations. Review

Introducción: La fibromialgia es un síndrome clínico, de etiología desconocida, que se caracteriza por la presencia de dolor crónico a nivel del sistema músculo-esquelético, con aparición difusa e incapacitante, que suele acompañarse de otros síntomas como fatiga, alteraciones del sueño, rigidez, jaquecas, colon irritable, depresión, ansiedad o parestesias en los miembros, llegándose también a describir trastornos del equilibrio. Objetivos: Realizar una descripción actualizada de los aspectos clínicos relevantes relativos a la Fibromialgia. Material y Métodos: Realizamos una búsqueda bibliográfica en las bases de datos Medline, Proquest y Scopus, utilizando los términos «fibromialgia», «manual therapy» y «osteopathy». Resultados: Estudio de revisión sistemática, retrospectivo, con una muestra de análisis bibliográfico integrado por 15 artículos (n=15) que cumplieron los criterios de selección en dos fases de análisis, lo cual supone el 4,54 % del total de artículos encontrados (n=330) y el 12 % de los artículos que cumplieron los criterios de selección (n=120) (inclusión y exclusión). La fibromialgia es una enfermedad de causa desconocida y tiene una presentación con múltiples síntomas, destacando entre ellos la aparición de dolor. Se presenta en el rango del 1% al 5% de la población. La causa podría estar en la alteración de los distintos niveles de procesamiento y modulación del dolor en el sistema nervioso central. Los criterios diagnósticos utilizados desde 1990 están siendo cuestionados. Conclusiones: El abordaje terapéutico actualmente se basa en disminuir la intensidad de los síntomas y no existe, por el momento, ningún tratamiento con una efectividad destacable por encima del resto de los utilizados, debiéndose tratar al paciente desde un equipo multidisciplinar (AU)

Introduction: Fibromyalgia is a clinical syndrome of an unknown etiology, characterized by the presence of diffuse and incapacitating chronic musculoskeletal pain that is normally accompanied by other symptoms like fatigue, sleep alterations, stiffness, severe headache, irritable bowel syndrome, depression, anxiety or paresthesia of the extremities and possible balance disorders. Objectives: To present an updated description of the relevant clinical aspects of fibromyalgia. Material and methods: We performed a literature search using Medline, ProQuest and Scopus databases, and the terms «fibromyalgia», «manual therapy» and «osteopathy». Results: A retrospective, systematic review study with a sample for literature analysis, comprising 15 articles (n=15) and satisfying the screening criteria in two phases of analysis. These 15 articles represent 4.54% of the total number of found articles (n=330), and 12% of the articles fulfilling the screening criteria (n=120) (inclusion and exclusion). Fibromyalgia is a disease of an unknown cause that manifests multiple symptoms, particularly the onset of pain. The prevalence of the disease is between 1% and 5% of the population. One possible cause could be the alteration of the various levels of pain processing and modulation in the central nervous system. The diagnostic criteria used since 1990 are being questioned. Conclusions: The treatment approach is currently based on reducing the intensity of the symptoms. At present, no one's treatment presents outstanding effectiveness with respect to the others used, and the patient, thus, requires a treatment applied by a multidisciplinary team (AU)

Avascular necrosis of the pisiform.

Avascular necrosis of the pisiform bone is a very rare condition. This paper reports a case and discusses this pathology and its diagnosis.

DOTS implementation in a middle-income country: development and evaluation of a novel approach.

BACKGROUND: DOTS is widely accepted as the most cost-effective strategy for tuberculosis (TB) control. However, there is little published information regarding methods for implementation in middle-income countries. METHODS: Over 3 years, the Canadian Lung Association assisted the Ecuadorian TB programme to implement DOTS for over half the nation's total population. A multilevel strategy developed by a team of Ecuadorian health professionals provided initial, in-service, replica and reinforcement training at the local level, and training at national level for specialist physicians, specialist societies and medical schools. Evaluation was based on international guidelines for case finding, treatment and laboratory quality control, and costs of all implementation activities. RESULTS: By January 2004, DOTS training had been provided to 1954 health professionals and 199 smear microscopy technicians, and DOTS was implemented in all 496 health facilities. Case detection activities at the local level increased substantially. Cure and treatment completion improved to 83% of new cases. Overall concordance of laboratory quality control readings was 98.7%. The total cost of DOTS implementation was US dollar 3 049 585. CONCLUSIONS: To achieve international targets for TB control, DOTS implementation in a middle-income country required intensive training at the local level and at multiple other levels.

[Patients with end-stage chronic renal insufficiency on programmed withdrawal from dialysis]. / Pacientes con insuficiencia renal crónica terminal retirados de diálisis bajo protocolización.

UNLABELLED: The voluntary discontinuation of dialysis by patients is a common mode of death in dialysis programmes. Unfortunately the Spanish experience has not been related in the nephrological literature. Initiation of, and withdrawal from, dialysis pose ethical questions for medicine in the 21st century. The dialysis population is aging and they have multiple medical problems. The choice may be between prolongation of quantity or quality of life. We evaluated a protocol for initiation of dialysis in patients with end stage renal failure and their subsequent withdrawal. We determined the factors predicting withdrawal of dialysis and revised the protocol to take account of these. We carried out an opinion poll of doctors and nurses about the effectiveness of the protocol. We studied prospectively the reasons for death of patients in the last seven years. RESULTS: Thirty patients were withdrawn from dialysis out of 116 who died during treatment by hemodialysis or continuous ambulatory peritoneal dialysis (CAPD) in the last seven years. Vascular nephropathy is the principal disease predicting withdrawal from dialysis; the main precipitating cause is mental incapacity. The availability of a protocol for withdrawal of dialysis is well received by doctors and nurses and it engenders moral and legal calm when facing difficult decisions. Twenty-six per cent of deaths on regular dialysis are the result of withdrawal of treatment.

Pacientes con insuficiencia renal crónica terminal retirados de diálisis bajo protocolización / Voluntary discontinuation of dialysis

La retirada de diálisis no es motivo de investigación ni de tratamiento habitual en la literatura nefrológica española. Es un tema de debate que conlleva disyuntivas de tipo ético. Su presentación es frecuente actualmente en la clínica diaria. Con la prolongación de expectativas de vida de los pacientes, aumentan los dilemas acerca de la prolongación de esa vida en las mínimas condiciones de calidad.Se comprueba la utilidad de un protocolo de entrada/retirada de pacientes con insuficiencia renal crónica terminal, diseñando los parámetros pronósticos de retirada de diálisis, y revisando los parámetros que inciden en la toma de decisión de esa retirada. Se realiza una encuesta a los profesionales sobre la efectividad del protocolo. Se revisan prospectivamente las causas de muerte acaecidas en los últimos siete años.Los resultados muestran 30 pacientes retirados del total de 116 enfermos fallecidos durante ese tiempo. La nefropatía vascular es la enfermedad que plantea con mayor frecuencia la retirada de diálisis, siendo la causa inmediata la incapacidad mental.La disponibilidad de un protocolo de retirada de diálisis confiere un aceptable grado de satisfacción entre los profesionales y les da tranquilidad moral y tal vez legal, a pesar del vacío existente en ese sentido, ante unas tomas de decisiones eventualmente conflictivas, dado que un 26 por ciento de los fallecimientos son debidos a esa retirada. (AU)

[The morphine-scopolamine combination in chloroform anesthesia]. / Asociación de morfina-escopolamina a la anestesia clorofórmica.

After introduction of surgical anesthesia with general agents such as ether and chloroform, a large number of deaths due to anesthetic toxicity were reported. With the aim to reduce toxicity several types of mixtures were devised. One of the most important was the association of opioids and scopolamine. This technique was compiled in a thesis on the use of morphine and scopolamine during anesthesia with chloroform which was presented by Dr. José Blasco Reta at the University of Madrid the 27th of June of 1907. Claude Bernard was the first to use this technique. He was based on the assumption that a previous injection of 1 cg of morphine acetate will decrease both, the needs and the risk of chloroform since this procedure shortened the excitation period, decreased ether-induced bronchial congestion, and prolonged for several hours the analgesic effect in the postoperative phase. The first who applied this technique in Spain was Dr. Losada, and Dr. Emilio Ruiz observed the rapid action of the mixture. After 1900, Schneiderlein added scopolamine in order to decrease the excitation and to reduce vomiting secondary to the association morphine-chloroform. Scopolamine was administered in 2 or 3 injections. Jun our country Dr. Lozano Monzón and Dr. Recasens used this pharmacologic association and considered it of beneficial effects when applied during labour. In a total number of 4,240 anesthetic procedures using the same technique, Dr. Blasco Reta reported 24 deaths, among them the first that occurred to Mr. Víctor Escribano between 1902 and 1903. Mortality was considered to be 1/1,000 cases.

[Calcinosis of the scrotum. Report of a case associated with epidermoid cysts]. / Calcinosis del escroto. Relato de un caso asociado a calcificaciones de quistes epidermoides.

Clinical and histological features of a case of the so-called idiopathic calcinosis of the scrotum in a 22 year-old otherwise healthy man are presented. In a first biopsy we did not observe any evidence of squamous epithelial lining around calcified masses, but in a second one we observed some intact epidermoid cysts and granulomas of foreign-body type around keratinous material. These findings suggest that scrotal calcinosis is not idiopathic, but rather the end stage of dystrophic calcification of scrotal epidermoid cysts.

Quantitative study on the uterus-inhibiting activity of sodium naproxen in rat isolated uterus.

Action of Sodium Naproxen on spontaneous and field stimulated motility of isolated rat uterus was studied. Sodium Naproxen inhibited both spontaneous and field stimulated motility. The IC50 on spontaneous motility was lower than the IC50 on stimulated motility. The inhibition produced on the field stimulated uterus was more regular in relationship to concentration used of Sodium Naproxen. The IC50 of Sodium Naproxen in these experimental conditions was 8.22 X 10(-4) M (pD2 = 3.09 +/- 0.02) and the maximum inhibitory effect was 100%. These results show that prostaglandin synthesis plays a necessary role in uterine contraction, spontaneous or induced by field stimulus.

Evaluation of the different methods used in the treatment of rhinoplastic sequelae.

Reports on rhinoplastic sequelae are infrequent. Reported incidence rates vary from 5% to 12%. The authors have an overall rate of 8%, with 6.5% of cases involving slight sequelae and 1.5% moderate ones. Various techniques for correction are used, depending on the sequel. Silastic implants have been unsatisfactory over the long term, so generally autogenous implants are used.

Leporine (cleft lip) nose.

The authors refer to the surgical technique used for correction of the leporine nose, occurring with unilateral cleft lip, and the variations according to the length of the columella.