RESUMEN
BACKGROUND AND PURPOSE: Mutations in the early growth response 2 gene (EGR2) cause demyelinating, but also axonal, neuropathies differing in severity and age of onset. Except for one family, all reported cases have autosomal dominant inheritance and mutations are localized within the three zinc finger (ZNF) DNA-binding domain. The aim of this study was to provide a clinical and molecular analysis of a novel recessive mutation in EGR2. METHODS: Clinical and electrophysiological assessments of three affected patients, from a consanguineous family, were performed. Genetic analyses of EGR2 were carried out by Sanger sequencing. Functional effects of clinical recessive mutations were assessed using a mammalian two-hybrid assay. RESULTS: A novel missense mutation (c.791C>T; p.P264L) in the homozygous state was detected outside the ZNF domains of the EGR2 gene. Three affected siblings presented with distal demyelinating polyneuropathy with severe sensory loss, progressive thoracolumbar scoliosis and trigeminal neuralgia. Respiratory compromise and cranial nerve dysfunction were also found. Our data indicate that the p.P264L mutation prevents interaction of EGR2 transcription factor with NAB corepressors, suggesting that a disruption of the NAB-EGR2 protein interactions can result in dramatic neuropathy. CONCLUSION: Mutations in, or next to, the R1 domain of EGR2 should be considered with extreme caution for genetic counseling, since these could cause a severe neuropathy with an autosomal recessive manner of transmission.
Asunto(s)
Enfermedad de Charcot-Marie-Tooth/genética , Proteína 2 de la Respuesta de Crecimiento Precoz/genética , Animales , Homocigoto , Humanos , Mutación , Factores de Transcripción/genéticaRESUMEN
BACKGROUND AND PURPOSE: Mutations in the BICD2 gene cause autosomal dominant lower extremity-predominant spinal muscular atrophy 2A (SMALED2A), a condition that is associated with a specific pattern of thigh and calf muscle involvement when studied by magnetic resonance imaging (MRI). Patients may present minor clinical sensory impairment, but objective sensory involvement has yet to be demonstrated. METHODS: We collected clinical data from 11 patients from five different families carrying mutations in BICD2. Genetic diagnosis was achieved using gene panel testing and skin biopsies were taken from two patients to study the epidermal nerve fiber density. RESULTS: In the studied patients, three new pathogenic mutations were detected as well as the already defined pathogenic p.Ser107Leu mutation. The most frequent clinical picture was characterized by lower-limb weakness in combination with foot deformities. One patient manifested clinical and electrophysiological sensory impairment, and the epidermal nerve fiber density study of another patient revealed the existence of a small-fiber neuropathy. Muscle MRI showed a common pattern of fat deposition including selective involvement of gluteus medius and minimus at the pelvic level, the anterior compartment of the thigh and the posterior compartment of the calf, with only mild or no involvement of the intrinsic foot muscles. CONCLUSIONS: We report three new pathogenic mutations in the BICD2 gene. Muscle MRI confirms the existence of a selective pattern of thigh and leg muscle involvement in SMALED2A, providing additional information regarding pelvic and foot muscles. Moreover, our results raise the possibility of sensory involvement in the disease.
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Enfermedad de Charcot-Marie-Tooth , Atrofia Muscular Espinal , Humanos , Pierna , Imagen por Resonancia Magnética , Proteínas Asociadas a Microtúbulos , Músculo Esquelético/diagnóstico por imagen , MutaciónRESUMEN
BACKGROUND AND PURPOSE: A three-generation family affected by axonal Charcot-Marie-Tooth disease (CMT) was investigated with the aim of discovering genetic defects and to further characterize the phenotype. METHODS: The clinical, nerve conduction studies and muscle magnetic resonance images of the patients were reviewed. A whole exome sequencing was performed and the changes were investigated by genetic studies, in silico analysis and luciferase reporter assays. RESULTS: A novel c.1226G>A change (p.R409Q) in the EGR2 gene was identified. Patients presented with a typical, late-onset axonal CMT phenotype with variable severity that was confirmed in the ancillary tests. The in silico studies showed that the residue R409 is an evolutionary conserved amino acid. The p.R409Q mutation, which is predicted as probably damaging, would alter the conformation of the protein slightly and would cause a decrease of gene expression. CONCLUSIONS: This is the first report of an EGR2 mutation presenting as an axonal CMT phenotype with variable severity. This study broadens the phenotype of the EGR2-related neuropathies and suggests that the genetic testing of patients suffering from axonal CMT should include the EGR2 gene.
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Enfermedad de Charcot-Marie-Tooth/genética , Enfermedad de Charcot-Marie-Tooth/fisiopatología , Proteína 2 de la Respuesta de Crecimiento Precoz/genética , Adulto , Anciano , Anciano de 80 o más Años , Axones/patología , Enfermedad de Charcot-Marie-Tooth/patología , Exoma , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mutación , Linaje , Fenotipo , Índice de Severidad de la Enfermedad , Adulto JovenRESUMEN
Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe). Here we address the findings of a genetic study of 29 Gypsy Spanish families with autosomal recessive demyelinating CMT. The most frequent form is CMT4C (57.14%), followed by HMSN-Russe (25%) and HMSN-Lom (17.86%). The relevant frequency of HMSN-Russe has allowed us to investigate in depth the genetics and the associated clinical symptoms of this CMT form. HMSN-Russe probands share the same haplotype confirming that the HK1 g.9712G>C is a founder mutation, which arrived in Spain around the end of the 18th century. The clinical picture of HMSN-Russe is a progressive CMT disorder leading to severe weakness of the lower limbs and prominent distal sensory loss. Motor nerve conduction velocity was in the demyelinating or intermediate range.
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Enfermedad de Charcot-Marie-Tooth/genética , Predisposición Genética a la Enfermedad/genética , Haplotipos , Neuropatía Hereditaria Motora y Sensorial/genética , Mutación , Romaní/genética , Adolescente , Adulto , Proteínas de Ciclo Celular/genética , Enfermedad de Charcot-Marie-Tooth/patología , Niño , Análisis Mutacional de ADN , Salud de la Familia , Femenino , Efecto Fundador , Geografía , Neuropatía Hereditaria Motora y Sensorial/patología , Hexoquinasa/genética , Humanos , Péptidos y Proteínas de Señalización Intracelular/genética , Masculino , Persona de Mediana Edad , Proteínas/genética , España , Adulto JovenRESUMEN
INTRODUCTION: Epileptic psychoses are categorised as peri-ictal and interictal according to their relationship with the occurrence of seizures. There is a close temporal relationship between peri-ictal psychosis and seizures, and psychosis may present before (preictal), during (ictal) or after seizures (postictal). Epileptic psychoses usually have acute initial and final phases, with a short symptom duration and complete remission with a risk of recurrence. There is no temporal relationship between interictal or chronic psychosis and epileptic seizures. Another type of epileptic psychosis is related to the response to epilepsy treatment: epileptic psychosis caused by the phenomenon of forced normalisation (alternative psychosis), which includes epileptic psychosis secondary to epilepsy surgery. Although combination treatment with antiepileptic and neuroleptic drugs is now widely used to manage this condition, there are no standard treatment guidelines for epileptic psychosis. CLINICAL CASES: We present 5 cases of peri-ictal epileptic psychosis in which we observed an excellent response to treatment with levetiracetam. Good control was achieved over both seizures and psychotic episodes. Levetiracetam was used in association with neuroleptic drugs with no adverse effects, and our patients did not require high doses of the latter. CONCLUSIONS: Categorising psychotic states associated with epilepsy according to their temporal relationship with seizures is clinically and prognostically useful because it provides important information regarding disease treatment and progression. The treatment of peri-ictal or acute mental disorders is based on epileptic seizure control, while the treatment of interictal or chronic disorders has more in common with managing disorders which are purely psychiatric in origin. In addition to improving the patient's quality of life and reducing disability, achieving strict control over seizures may also prevent the development of interictal psychosis. For this reason, we believe that establishing a treatment protocol for such cases is necessary.
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Epilepsia/complicaciones , Epilepsia/psicología , Trastornos Psicóticos/etiología , Trastornos Psicóticos/psicología , Convulsiones/complicaciones , Convulsiones/psicología , Adulto , Anticonvulsivantes/uso terapéutico , Antipsicóticos/uso terapéutico , Trastorno de Personalidad Antisocial/complicaciones , Electroencefalografía , Epilepsia/tratamiento farmacológico , Epilepsia del Lóbulo Temporal/complicaciones , Femenino , Humanos , Discapacidad Intelectual/complicaciones , Masculino , Esclerosis Múltiple Recurrente-Remitente/complicaciones , Procedimientos Neuroquirúrgicos , Trastornos Psicóticos/tratamiento farmacológico , Convulsiones/tratamiento farmacológico , Tomografía Computarizada por Rayos XRESUMEN
Laing myopathy is a distal myopathy caused by mutations in the tail of the slow beta-myosin heavy chain gene MYH7. A large cluster of patients belonging to different families, with Laing myopathy due to p.K1729del mutation, was found in the Safor region, Spain. The same mutation was previously reported in an American family with Italian ancestry. The possibility that p.K1729del in MYH7 might be a founder mutation in the Safor patients and the chance of a common origin with the Italian-American family mutation was investigated by haplotype analyses, mutation data origin estimation and historical inquiry. Our results show that the p.K1729del in MYH7 harboured by patients from the Safor indeed is a founder mutation. A common ancestral origin of this mutation in the Spanish and Italian families is also suggested because they all share a core SNP haplotype at locus MYH7. Data estimation yields the origin of the mutation in the Safor at the beginning of the XVII century, when the Moorish were spelt and the region was resettled with Italian families.
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Miosinas Cardíacas/genética , Efecto Fundador , Enfermedades Musculares/genética , Mutación , Cadenas Pesadas de Miosina/genética , Población Blanca/genética , Haplotipos , Humanos , Italia , Polimorfismo de Nucleótido Simple , EspañaRESUMEN
INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy. In accordance with the inheritance pattern and degree of slowing of motor conduction velocity (MCV) of the median nerve, CMT encompasses five main forms: CMT1 (autosomal dominant [AD] or X-linked transmission and MCV < 38 m/s); CMT2 (AD or X-linked transmission and MCV > 38 m/s); CMT4 (autosomal recessive [AR] and severe slowing of MCV); AR-CMT2 (AR transmission and MCV > 38 m/s); and DI-CMT (intermediate form with AD transmission and MCV between 30 and 40 m/s). In spite of its stereotyped semiological repertoire (basically, symptoms and signs of sensory-motor polyneuropathy and pes cavus), CMT seems to be one of the most complex hereditary neurodegenerative syndromes, 31 causative genes having been cloned. DEVELOPMENT: This paper is aimed at performing a nosological review of the disease, emphasising the guidelines for its molecular diagnosis. Genetic epidemiological studies and genotypes reported in Spanish patients are revised. CONCLUSIONS: In the great majority of CMT cases, mutations involve a reduced number of genes, namely: for CMT1, PMP22, GJB1 and MPZ; for CMT2, MFN2 and GJB1; for CMT4, GDAP1, and NDRG1, HK1 and SH3TC2 (gypsies); for AR-CMT2, GDAP1; and for DI-CMT, GJB1 and MPZ. Given their low prevalence, mutations in other pathogenic genes should be investigated after discarding the previous ones. There is no place for the indiscriminate use of diagnostic CMT genetic panels.
Asunto(s)
Enfermedad de Charcot-Marie-Tooth/diagnóstico , Enfermedad de Charcot-Marie-Tooth/genética , Marcadores Genéticos , Guías como Asunto , Humanos , Epidemiología Molecular , Mutación/genética , Mutación/fisiologíaRESUMEN
INTRODUCTION AND AIMS: The Charcot-Marie-Tooth Pediatric Scale (CMTPedS) is a validated and change-sensitive tool for assessing the severity of neuropathy in children and adolescents between 3 and 20 years of age. The aim of this article is to translate and validate a Spanish version of the CMTPedS in order to disseminate its use in Spanish-speaking countries. MATERIALS AND METHODS: The process used to translate the CMTPedS into Spanish was the reverse parallel translation method based on the principles of good practice for translation and the cultural adaptation process of the Food and Drug Administration Guidelines. A direct translation of the original source of the CMTPedS into Spanish was performed first and reviewed by experts in Charcot-Marie-Tooth (CMT) disease trained in the use of the CMTPedS tool. The Spanish version was then translated back into English by a linguist specialised in translation. RESULTS: The preliminary Spanish version of the CMTPedS was evaluated in 18 children with CMT aged 6-20 years (mean: 13.27). The scale was well tolerated and easy for children to understand and easy for clinicians to apply. None of the patients had any difficulty completing the scale. CONCLUSIONS: The Spanish version of the CMTPedS can be used for monitoring and conducting clinical trials in the Spanish population and in Spanish-speaking countries.
TITLE: Validación de la versión española de la Charcot-Marie-Tooth Disease Pediatric Scale (CMTPedS).Introducción y objetivos. La Charcot-Marie-Tooth Pediatric Scale (CMTPedS) es una herramienta validada y sensible al cambio para evaluar la gravedad de la neuropatía en niños y adolescentes entre 3 y 20 años. El objetivo de este artículo es traducir y validar una versión española de la CMTPedS para difundir su utilización en países de habla hispana. Material y métodos. El proceso para la traducción al español de la CMTPedS ha sido el método de traducción paralela invertida basado en los principios de buena práctica para la traducción y el proceso de adaptación cultural de las Food and Drug Administration Guidelines. Se realizó primero una traducción directa de la fuente original de la CMTPedS al español que fue revisada por expertos en la enfermedad de Charcot-Marie-Tooth (CMT) formados en la utilización de la herramienta CMTPedS. La versión española fue traducida de nuevo al inglés por un lingüista especialista de la traducción. Resultados. La versión preliminar en español de la CMTPedS se evaluó en 18 niños con CMT entre 6 y 20 años (media: 13,27). La escala fue bien tolerada y fácil de comprender en los niños y fácil de aplicar para los clínicos. Ningún paciente tuvo dificultad en completar la escala. Conclusiones. La versión española de la CMTPedS se puede utilizar para el seguimiento y la realización de ensayos clínicos en población española y países de habla hispana.
Asunto(s)
Enfermedad de Charcot-Marie-Tooth , Adolescente , Adulto , Enfermedad de Charcot-Marie-Tooth/diagnóstico , Niño , Humanos , Proyectos de Investigación , Índice de Severidad de la Enfermedad , Traducciones , Adulto JovenAsunto(s)
Proteínas de Choque Térmico/genética , Neuropatía Hereditaria Motora y Sensorial/genética , Mutación/genética , Fenotipo , Proteínas Adaptadoras Transductoras de Señales/genética , Adulto , Proteínas de Ciclo Celular/genética , Enfermedad de Charcot-Marie-Tooth/genética , Enfermedad de Charcot-Marie-Tooth/patología , Enfermedad de Charcot-Marie-Tooth/fisiopatología , Femenino , Neuropatía Hereditaria Motora y Sensorial/patología , Neuropatía Hereditaria Motora y Sensorial/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Conducción Nerviosa , Proteínas Nucleares/genética , EspañaRESUMEN
BACKGROUND AND OBJECTIVE: The chronic fatigue syndrome (CFS) is a disabling disorder. Few studies are available in our area on the prevalence and characteristics of CFS. Therefore, we carried out a study of a consecutive series of 824 cases diagnosed in two specialized units. PATIENTS AND METHODS: We evaluated all of the CFS patients seen from January 2008 to June 2010. We analyzed social and demographic data, employment status, time of clinical evolution, trigger factors and onset, Fukuda and Canadian criteria, associated comorbidities and treatment. RESULTS: A total of 824 patients were included, 748 (91%) woman, mean age 48±9 years. Average age of onset of symptoms was 35±11 years, time to diagnosis 108±88 month. A precipitating factor was identified in 481 (58%) patients, the onset was gradual in 517 (63%) and 515 (62.5%) were not employed. The most outstanding diagnostic criteria of Fukuda were prolonged generalized fatigue after exercise, sleep disturbance and impairments in concentration and short-term memory. The different groups of symptoms defined by the Canadian consensus showed that CFS is a homogeneous entity. Accompanying comorbidity phenomena were anxiety 691 (83%), sicca syndrome 678 (82%), fibromyalgia 450 (55%). A total of 63% of patients (520) received pharmacological treatment. CONCLUSIONS: CFS is an illness that preferentially affects young women and results in employment absenteeism. The most relevant clinical features were prolonged generalized fatigue after exercise, neurocognitive impairment and sleep disturbance. In the evaluation of the patient, it is very important to apply the Canadian criteria and to assess comorbidity.
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Síndrome de Fatiga Crónica , Adulto , Anciano , Síndrome de Fatiga Crónica/diagnóstico , Síndrome de Fatiga Crónica/epidemiología , Femenino , Unidades Hospitalarias , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Adulto JovenRESUMEN
BACKGROUND: Nicotinamide adenine dinucleotide (NADH) may be depleted in chronic fatigue syndrome (SFC). The purpose of the study was to evaluate the efficacy of supplementation with NADH in these patients. MATERIAL AND METHODS: A double blind, placebo controlled, 3 month long clinical trial was conducted. The patients were randomized to oral NADH oral 20mg or placebo during the first two months. The intensity of the fatigue, functional performance, mood state, functional impact of the fatigue, quality of life, sleep quality, exercise capacity and functional reserve as well as the investigator's and patient's opinion on the efficacy of the intervention prior to and at 30, 60 and 90 days of the onset of the treatment were evaluated. A stress test was performed in the baseline visit and at 60 days (last day of the double blind treatment). RESULTS: A total of 86 patients, 77 of whom completed the study (mean age, 47 years, 72 women) were enrolled. No significant differences were found in most of the variable studied at the end of the study. Administration of NADH was associated to a decrease in anxiety condition of -1.0 points (p<0.05) and of -0.2 points (p=NS) in the placebo assigned group. Maximum heart rate after the stress test decreased a mean of -8.1l/min (p<0.05) in the NADH group and increased by +1.7l/min in the placebo group (p=0.73). No differences were found in the perception of efficacy with NADH and placebo, by the investigator and patients. CONCLUSIONS: Administration of oral NADH was associated to a decrease in anxiety and maximum heart rate, after a stress test in patients with CFS. On the contrary, this treatment did not modify other clinical variables and the global functional performance.
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Síndrome de Fatiga Crónica/tratamiento farmacológico , NAD/uso terapéutico , Método Doble Ciego , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios ProspectivosRESUMEN
To assess sexual function in women with chronic fatigue syndrome. The study included 27 women, aged 20 to 45 years, with chronic fatigue syndrome (CFS) and 15 healthy female controls. Sexual function was measured with the Golombok Rust Inventory of Sexual Satisfaction (GRISS) questionnaire and five clinical questions. In the patient group, total fatigue impact scale (FIS) score correlated with the GRISS satisfaction (r:-0.471, P < .005), avoidance (r: 0.632, P < .001) and sensuality (r: -0.445, P = .008) subscales. The GRISS satisfaction, avoidance, and sensuality subscale results and the fact of seeing the sexual act as a negative experience correlated with the intensity of fatigue in women with CFS.
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Síndrome de Fatiga Crónica/complicaciones , Libido , Satisfacción Personal , Disfunciones Sexuales Fisiológicas/diagnóstico , Disfunciones Sexuales Psicológicas/diagnóstico , Adulto , Estudios de Casos y Controles , Síndrome de Fatiga Crónica/psicología , Femenino , Humanos , Persona de Mediana Edad , Reproducibilidad de los Resultados , Proyectos de Investigación , Sensibilidad y Especificidad , Índice de Severidad de la Enfermedad , Disfunciones Sexuales Fisiológicas/etiología , Disfunciones Sexuales Psicológicas/etiología , Encuestas y CuestionariosRESUMEN
INTRODUCTION: Increasing life expectancy in the general population has led to a rise in the incidence of cancer and new challenges with regard to the diagnosis, therapy and prognosis of this disease. AIM: To assess prognostic factors in the initial work-up of patients ultimately diagnosed with cancer in an Internal Medicine Service, particularly those related with age. PATIENTS AND METHODS: A prospective study was undertaken with 224 patients ultimately diagnosed with cancer, as confirmed by histological or cytological study. The neoplasms included respiratory, gastrointestinal, genitourinary, metastatic adenocarcinoma of unknown origin, gynaecological, hepatobiliary and others. Before reaching the diagnosis, the following factors were investigated in all patients: functional status [Karnofsky Performance Status (KPS)], comorbidity (Charlson scale), body mass index (BMI), serum cholesterol and albumin concentrations, cognitive level (Mini-mental test), quality of life (Short Form 36 questionnaire), and extension of the disease according to established criteria. Survival at 1 year was analysed. Statistical analyses were done with spss 11.0 for Windows, using a forward stepwise (likelihood ratio) method to construct the model and a Cox multivariate model for the survival analysis. RESULTS: A total of 224 patients, 167 men (74.5%) and 57 women (25.5%), with a mean age of 66.1 +/- 12.3 years were studied. KPS was >or= 70 in 84% and comorbidity was zero or one in 74%. BMI was 24.25 +/- 4.3, cholesterol 180.7 +/- 4.3, albumin 3.32 +/- 0.5 and Mini-mental score 25.4 +/- 3.7. Metastasis was seen in 131 patients (58.5%) and local disease in 93 cases (41.5%). One-year survival was 38.8% (87 patients) with a mean of 203.8 +/- 143 days. In the Cox analysis, the independent predictive factors for survival were KPS [hazard ratio (HR) = 0.951; 95% CI = 0.930-0.974; p < 0.01], metastatic dissemination (HR = 2.422; 95% CI = 1.643-3.571; p < 0.01), physical quality of life (HR = 0.978; 95% CI = 0.962-0.995; p < 0.01) and albumin (HR = 0.653; 95% CI = 0.455-0.936; p < 0.01). CONCLUSIONS: In the initial work-up of patients ultimately diagnosed with cancer in an Internal Medicine Service, functional status, dissemination, the physical component in the quality of life scale and serum albumin levels were independent prognostic factors for survival. Age was not an independent prognostic factor and should not be used as a basis for adopting diagnostic or therapeutic decisions in these patients.
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Neoplasias/diagnóstico , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Medicina Interna , Masculino , Persona de Mediana Edad , Neoplasias/mortalidad , Pronóstico , Estudios Prospectivos , Calidad de Vida , Análisis de SupervivenciaRESUMEN
OBJECTIVE: To describe the fasciculation pattern in ALS and to analyse its clinical and pathophysiological significance. METHODS: Ultrasound of 19 muscles was performed in 44 patients with a recent diagnosis (<90â¯days) of ALS. The number of fasciculations was recorded in each muscle and the muscle thickness and strength were additionally measured in limb muscles. A subgroup of patients were electromyographically assessed. RESULTS: US was performed in 835 muscles and EMG was available in 263 muscles. US detected fasciculations more frequently than EMG. Fasciculations were widespread, especially in upper limbs onset patients and in the cervical region. Fasciculations' number inversely associated with ALSFR-R and body mass index (BMI) and directly with BMI loss and upper motor neuron (UMN) impairment. Our statistical model suggest that fasciculations increase with the initial lower motor neuron (LMN) degeneration, reach their peak when the muscle became mildly to moderately weak, decreasing afterwards with increasing muscle weakness and atrophy. CONCLUSIONS: Our study suggests that both UMN and LMN degeneration trigger fasciculations causing BMI loss. The degree of LMN impairment could account for differences in fasciculations' rates within and between muscles. SIGNIFICANCE: In ALS, fasciculations could explain the link between hyperexcitability and BMI loss.
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Esclerosis Amiotrófica Lateral/diagnóstico por imagen , Fasciculación/diagnóstico por imagen , Ultrasonografía , Anciano , Esclerosis Amiotrófica Lateral/fisiopatología , Índice de Masa Corporal , Fasciculación/etiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Músculo Esquelético/diagnóstico por imagen , Músculo Esquelético/fisiopatologíaRESUMEN
BACKGROUND: Which diagnostic procedures should be used to differentiate between idiopathic and malignant pleural effusions, is not well established. AIM: To identify which parameters allow differentiation between idiopathic and malignant pleural effusions. DESIGN: Case-note review. METHODS: Over a 12-year period, we treated 1014 consecutive pleural effusion patients, of whom 346 were diagnosed as having an idiopathic or malignant aetiology. We analysed medical history, chest X-ray, pleural fluid analysis (biochemical, microbiological and cytological), chest CT scan and additional examinations that were used according to clinical findings, and compared them with the eventual diagnosis and outcome. RESULTS: Eighty-three patients with idiopathic effusions and 263 with malignant effusions were included. Idiopathic pleural effusion resolved in 47 patients, improved in 20 and persisted in 16. Biochemical pleural fluid analysis did not predict these outcomes. A history of neoplasm, chest X-ray and CT features, as well as additional examinations according to clinical findings, established a diagnosis or suspicion of malignancy in 256 (97.7%) of the 263 patients who received a diagnosis of malignant effusion. Diagnostic thoracoscopy was helpful in seven patients in whom malignant disease was strongly suspected, despite the absence of other pathological findings. DISCUSSION: Non-invasive complementary examinations generally allowed accurate differentiation between malignant and idiopathic effusions. Patients with idiopathic pleural effusions generally had favourable outcomes.
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Derrame Pleural Maligno/diagnóstico , Derrame Pleural/diagnóstico , Anciano , Anciano de 80 o más Años , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Sensibilidad y EspecificidadRESUMEN
INTRODUCTION: The high prevalence of patent foramen ovale in migraine with aura (MWA) seems to be well established; yet, the possible relation between the magnitude of the right-to-left shunt (RLS) and MWA is not so clear. As a hypothesis, if the RLS played a precipitating role, subjects with a larger degree of shunt might experience a higher number of seizures. We examine this possible relationship between the magnitude of the shunt and the incidence of seizures. PATIENTS AND METHODS: We examined a series of 72 patients with MWA to obtain the frequencies of seizures (dividing them into three groups of increasing frequency), history and precipitating factors. The presence and magnitude of the RLS were later determined by means of transcranial Doppler ultrasonography, following a method that had previously been validated. Univariate analysis was then used to evaluate the possible association between the magnitude of the shunt and the frequency of seizures. RESULTS: The mean age was 36 years. RLS appeared in 44 patients (61.1%) and followed a 'shower/curtain' pattern in 38% of cases. Frequency of seizures was low in 27%, medium in 45% and high in 27% of patients. Frequency was not associated with the magnitude of the shunt even when only high-frequency cases were considered. High frequency was associated, however, with certain precipitating factors. CONCLUSIONS: Our study confirms the existence of a high prevalence of RLS in patients with MWA, but no association was found between the magnitude of the shunt and the frequency of the seizures. As discussed here, these findings are partly at odds with a 'threshold' type of association or mechanism that precipitates seizures.
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Migraña con Aura/fisiopatología , Adulto , Foramen Oval Permeable/complicaciones , Humanos , Convulsiones/etiología , Ultrasonografía Doppler TranscranealRESUMEN
Introducción y objetivos: La Charcot-Marie-Tooth Pediatric Scale (CMTPedS) es una herramienta validada y sensible al cambio para evaluar la gravedad de la neuropatía en niños y adolescentes entre 3 y 20 años. El objetivo de este artículo es traducir y validar una versión española de la CMTPedS para difundir su utilización en países de habla hispana. Material y métodos: El proceso para la traducción al español de la CMTPedS ha sido el método de traducción paralela invertida basado en los principios de buena práctica para la traducción y el proceso de adaptación cultural de las Food and Drug Administration Guidelines. Se realizó primero una traducción directa de la fuente original de la CMTPedS al español que fue revisada por expertos en la enfermedad de Charcot-Marie-Tooth (CMT) formados en la utilización de la herramienta CMTPedS. La versión española fue traducida de nuevo al inglés por un lingüista especialista de la traducción. Resultados: La versión preliminar en español de la CMTPedS se evaluó en 18 niños con CMT entre 6 y 20 años (media: 13,27). La escala fue bien tolerada y fácil de comprender en los niños y fácil de aplicar para los clínicos. Ningún paciente tuvo dificultad en completar la escala.Conclusiones: La versión española de la CMTPedS se puede utilizar para el seguimiento y la realización de ensayos clínicos en población española y países de habla hispana.(AU)
Introduction and aims: The Charcot-Marie-Tooth Pediatric Scale (CMTPedS) is a validated and change-sensitive tool for assessing the severity of neuropathy in children and adolescents between 3 and 20 years of age. The aim of this article is to translate and validate a Spanish version of the CMTPedS in order to disseminate its use in Spanish-speaking countries. Materials and methods: The process used to translate the CMTPedS into Spanish was the reverse parallel translation method based on the principles of good practice for translation and the cultural adaptation process of the Food and Drug Administration Guidelines. A direct translation of the original source of the CMTPedS into Spanish was performed first and reviewed by experts in Charcot-Marie-Tooth (CMT) disease trained in the use of the CMTPedS tool. The Spanish version was then translated back into English by a linguist specialised in translation. Results: The preliminary Spanish version of the CMTPedS was evaluated in 18 children with CMT aged 6-20 years (mean: 13.27). The scale was well tolerated and easy for children to understand and easy for clinicians to apply. None of the patients had any difficulty completing the scale. Conclusions: The Spanish version of the CMTPedS can be used for monitoring and conducting clinical trials in the Spanish population and in Spanish-speaking countries.(AU)
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Humanos , Niño , Traducción , Enfermedad de Charcot-Marie-Tooth , Neurología , Guías de Práctica Clínica como Asunto , Indicadores de Salud , España , Enfermedades del Sistema NerviosoRESUMEN
Introducción y objetivos: La posición final de las neocomisuras en el implante percutáneo de válvula aórtica (TAVI) es aleatoria, lo que podría dificultar el acceso coronario y procedimientos futuros. Nuestro objetivo es desarrollar un método estandarizado para conseguir el alineamiento de las comisuras con ACURATE neo. Métodos: La relación entre las comisuras nativas y las neocomisuras de la válvula se analizó en 11 pacientes con estenosis aórtica grave sometidos a TAVI. Con base en la tomografía computarizada, se desarrolló un modelo in silico para predecir la posición final de los postes comisurales. A continuación, se desarrolló una técnica modificada de implante con alineamiento comisural adecuado (ACA) y un dispositivo específico para orientar el sistema de liberación. Por último, el implante de TAVI con alineamiento comisural se simuló en modelos impresos en 3D e in vivo. Se analizó el grado de mal alineamiento y de solapamiento coronario (SC). Resultados: El modelo in silico predijo con precisión la posición de los postes comisurales tanto para implantes convencionales (2) como aquellos con técnica de ACA (9) (coeficiente de correlación=0,994; IC95%, 0,989-0,998; p <0,001). El TAVI con una rotación del sistema específica para cada paciente se simuló con éxito en biomodelos y en 9 pacientes (mal alineamiento comisural medio in vivo, 7,7±3,9°). Ninguno de los implantes con técnica ACA presentó SC, mientras que la simulación in silico para los mismos casos pero mediante implante convencional predijo SC en 6 de los 9 casos. Conclusiones: El alineamiento comisural preciso del dispositivo ACURATE neo es factible mediante la inserción del sistema de liberación rotado específicamente para cada paciente basándose en el análisis de la tomografía computarizada. Este método sencillo y reproducible de alineamiento comisural podría utilizarse con todo tipo de dispositivos para TAVI (AU)
Introduction and objectives: Final position of the neo-commissures is uncontrolled during transcatheter aortic valve implantation (TAVI), potentially hindering coronary access and future procedures. We aimed to develop a standard method to achieve commissural alignment with the ACURATE neo valve. Methods: The relationship between native and TAVI neo-commissures was analyzed in 11 severe aortic stenosis patients undergoing TAVI. Based on computed tomography analysis, an in silico model was developed to predict final TAVI commissural posts position. A modified implantation technique, accurate commissural alignment (ACA) and a dedicated delivery system were developed. TAVI implants were tested in 3-dimensional (3D) printed models and in vivo. Commissural misalignment and coronary overlap (CO) were analyzed. Results: The in silico model accurately predicted final position of commissural posts irrespective of the implantation technique performed (correlation coefficient, 0.994; 95%CI, 0.989-0.998; P<.001). TAVI implant with patient-specific rotation was simulated in 3D printed models and in 9 patients. ACA-oriented TAVI implants presented adequate commissural alignment in vivo (mean commissural misalignment of 7.7 ±3.9°). None of the ACA oriented implants showed CO, whereas in silico conventional implants predicted CO in 6 of the 9 cases. Conclusions: Accurate commissural alignment of the ACURATE neo device is feasible by inserting the delivery system with a patient-specific rotation based on computed tomography analysis. This is a simple and reproducible method for commissural alignment that can be potentially used for all kinds of TAVI devices (AU)
Asunto(s)
Humanos , Reemplazo de la Válvula Aórtica Transcatéter , Estenosis de la Válvula Aórtica/terapia , Tomografía Computarizada por Rayos X , Índice de Severidad de la Enfermedad , PronósticoRESUMEN
PURPOSE: We sought to assess the yield of chest roentgenography for the detection of pneumothorax among hospitalized patients with pleural effusion who have undergone diagnostic or therapeutic thoracentesis. SUBJECTS AND METHODS: We performed a prospective study of 506 thoracentesis procedures in 370 patients. After the procedure, each operator filled out a note recording patient data and the characteristics of the thoracentesis. A chest radiograph was performed within 12 hours after the procedure in all patients. RESULTS: Eighteen (4%) pneumothoraces occurred in 17 patients, 9 (2%) of which required chest tube drainage. Of the 488 patients without symptoms, only 5 (1%) developed a pneumothorax, only 1 of which required chest tube drainage. By contrast, of the 18 patients with symptoms, 13 developed a pneumothorax, 8 of which required chest tubes. There were two independent predictors of pneumothorax: presence of symptoms (odds ratio [OR] = 250; 95% confidence interval [CI]: 65 to 980) and male gender (OR = 5.4; 95% CI: 1.9 to 69). CONCLUSIONS: Among the symptom-free patients in our sample, the risk of developing pneumothorax with clinical consequences was so low that the practice of routine chest roentgenography may not be justified.
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Paracentesis/efectos adversos , Neumotórax/diagnóstico por imagen , Toracoscopía/efectos adversos , Toracotomía/efectos adversos , Tubos Torácicos , Árboles de Decisión , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Oportunidad Relativa , Derrame Pleural/diagnóstico , Derrame Pleural/etiología , Derrame Pleural/terapia , Neumotórax/etiología , Neumotórax/terapia , Radiografía , Riesgo , Factores de RiesgoRESUMEN
In a prospective study of community-acquired pneumonias, 30 patients were diagnosed with Legionnaires' disease in 15 months. Clinical, laboratory and radiologic features of these patients are reviewed and compared with those who have pneumococcal pneumonia. Alcoholism, history of smoking, previous antimicrobial therapy, gastrointestinal and neurologic manifestations, elevations of serum transaminases, alkaline phosphatase and creatinine levels were more frequent in pneumonia due to Legionella pneumophila than in pneumococcal pneumonia. The presence of respiratory failure and radiologic progression were common findings that suggested L pneumophila as the etiologic agent of a community-acquired pneumonia. Development of respiratory failure was associated with involvement of several lobes and isolation of L pneumophila in any specimen. In 21 of 30 patients with Legionnaires' disease, L pneumophila was isolated from respiratory specimens. Overall mortality was 10 percent, but it increased to 27 percent in patients not treated with erythromycin initially.