Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.

BACKGROUND: The most frequent phenotypes of dysferlin myopathy are limb-girdle muscular dystrophy 2B (LGMD2B) and Miyoshi myopathy (MM). Our objective was to find clinical or MRI markers to differentiate phenotypes of dysferlin myopathy regardless of initial symptoms. METHODS: This retrospective study included 29 patients with confirmed mutations in the DYSF gene (14 MM, 12 LGMD2B, 1 asymptomatic hyperCKemia, and 2 symptomatic carriers). All underwent an annual clinical examination (Medical Research Council scale), functional status assessment, and creatine kinase, pulmonary, and cardiac testing. For research purposes, we performed lower limb MRI studies in all 29 patients to identify the pattern of muscle impairment and to quantify involvement. Statistical correlations between MRI findings and phenotype, disease duration, and functional status were determined. RESULTS: The mean clinical follow-up was 6.4 +/- 5.7 years. No significant differences were found in the rate of progression, functional prognosis, or mutations between patients with MM and patients with LGMD2B. The MRI pattern of muscle involvement was the same for patients with MM and patients with LGMD2B. The adductor magnus and gastrocnemius medialis were the first to be impaired in both phenotypes. The progression of muscle involvement correlated with clinical status. CONCLUSIONS: Splitting dysferlin myopathy into separate phenotypes does not reveal significant differences in terms of rate of progression, prognosis, genotype, or MRI pattern. The finding that proximal and distal muscles are already impaired in the MRI at onset in both MM and LGMD2B favors grouping all phenotypes under the term dysferlin myopathy.

Carcinoma de células renales: correlación anátomo-radiológica según clasificación tumoral "T" en la experiencia clínica de 10 meses de seguimiento / Renal cell carcinoma: anatomo-radiologic correlation according to \"T\" tumor classification during a 10 month follow up period

Objetivo: Correlacionar las características tomográficas de los tumores renales, con los hallazgos anatomopatológicos, para determinar si es posible su diferenciación por imágenes en el diagnóstico y clasificación T (TNM).Material y Método: Se realizó un seguimiento por 10 meses entre octubre de 2008 y julio de 2009 de todos los tumores renales estudiados y tratados en el Hospital San Juan de Dios. La cohorte recopiló 34 casos de tumores renales sólidos con informe radiológico por TC, de los cuales 30 se sometieron a cirugía, con su posterior análisis anatomopatológico y grado nuclear de Fuhrman. Hombres 23, mujeres 11, con un promedio de edad de 55 años (32-84 años). Se evalúa por TC, patrón de realce, homogeneidad, calcificaciones y compromiso vascular. Se correlacionó el tamaño T imagenológico por TNM, con el pT por histopatología, así como también la presencia o no de síntomas y la modalidad quirúrgica elegida (radical o parcial, laparoscópica o abierta). Resultados: Un promedio de tamaño tumoral de 6,6 cm (1,5-12 cm), 30 fueron catalogados al TC como carcinoma de células renales (CCR), de los cuales 24 fueron confirmados por histopatología, siendo las características tomográficas más predictivas, el comportamiento hipervascular (23) y la heterogenicidad (22). En pocos casos de los CCR, se presentó necrosis (5) y calcificaciones (1). El resto de los tumores (6) correspondieron a pielonefritis xantogranulomatosa, angiomiolipoma, mielolipoma suprarrenal, oncocitoma (2) y quiste hidatídico, de los cuales 5 impresionaron como CCR. El acierto entre la impresión diagnóstica por TC y la por istopatología, fue de 83 por ciento. La correlación en la clasificación T (TNM) fue con acierto total de 75 por ciento. La certeza en el diagnóstico en etapas m órgano confinadas (T1 y T1-2) fue significativa (p= 0,01 y p= 0,02) al confirmarse a la histología. Existe una tendencia de los tumores incidentales a presentarse en etapas más precoces. Conclusión: Casi el...

Objective: To correlate tomographic characteristics of renal tumors with pathologic findings in order to determine if the diagnosis and TNM classification can be performed by imaging. Material and Method: Between October 2008 and July 2009, all renal tumors diagnosed and treated at Hospital San Juan de Dios were followed. The cohort was composed of 34 solid renal tumors. All cases had a CT scan report. Out of the total, 30 patients underwent surgery with a subsequent pathology report that included Fuhrman’s nuclear grade. There were 23 males and 11 females with an average age of 55 years (32-84). CT scan analysis included enhancement pattern, homogeneity, calcifications and vascular involvement. We correlated the T size by images with pT by histology. Also, the presence of symptoms and the surgical technique were recorded. Results: Average tumor size was 6.6 cm (1.5-12); 30 cases were classified by CT scan as renal cell carcinoma (RCC). Of them, 24 cases were confirmed by histology. The CT scan findings that better predicted histology were hipervascularity (23) and heterogeneity (22). Few RCC showed necrosis (5)and calcifications (1). The rest of the cases (6) corresponded to xantogranulomatous pielonefritis, angiomiolipoma, mielolipoma, oncocytoma and hidatidic cyst. Of them, 5 were diagnosed as RCC by images. The agreement between CT scan diagnosis and histopathology was 83 percent. The correlation with the TNM classification was 75 percent overall. Accuracy in the diagnosis of T1 and T2 cases was significant (p =0.01 and p =0.02). There is a trend for incidental tumors to present at earlier stages. Conclusion: Almost 50 percent of RCC cases were incidental findings. Imaging characteristics and enhancement pattern by CT scan are helpful in the diagnosis of RCC and in the T classification. This method has an adequate correlation with postoperative histopathology especially at early stages (T1 and T2). Better diagnostic elements are required...

Compromiso de la grasa periganglionar como factor de riesgo en linfadenectomía inguinal modificada en cáncer de pene / Involvement of the perinodal fat as a risk factor in modified inguinal lymphnode dissection for penile cancer

Introducción: La linfadenectomía en cáncer de pene cumple un importantísimo rol en la etapificación y tratamiento. Históricamente ha sido subutilizada por la morbilidad asociada al procedimiento quirúrgico. Objetivo: Análisis de la linfadenectomía inguinal modificada, su rol etapificador y el compromiso de la grasa periganglionar como factor de mal pronóstico. Material y método: Revisión retrospectiva de 40 linfadenectomías inguinales modificadas, realizadas en 20 pacientes con diagnóstico de cáncer de pene, entre los años 1995 y 2009. La edad promedio de los pacientes estudiados fue de 63,8 años, con un tiempo de evolución promedio de la lesión de 8,2 meses. La histología en la totalidad de los casos fue carcinoma escamoso, realizándose como primera aproximación quirúrgica 8penectomías parciales y 12 totales. Técnica quirúrgica utilizada: Linfadenectomía inguinal modificada. Resultados: Se realizaron 22 linfadenectomías profilácticas, obteniéndose ganglios inguinales superficiales (+) en 4 oportunidades y ganglios profundos (+) en 1 de ellas. Se realizaron 18 linfadenectomías terapéuticas, obteniéndose ganglios inguinales superficiales (+) en 12 procedimientos y ganglios profundos (+) en 4 de ellos. La sobrevida general a 5 años, fue de 15 por ciento y la específica de 10 por ciento.Los factores de mal pronóstico fueron la indiferenciación lesional, el compromiso de ganglios inguinales profundos y el compromiso de la grasa periganglionar. Discusión: No existiendo actualmente exámenes con adecuada sensibilidad y especificidad para detectar el compromiso ganglionar inguinal en el cáncer de pene, se plantea como rol primario de la Linfadenectomía, la etapificación; sin embargo, su rol terapéutico es el más importante, pudiendo ser curativo especialmente en pacientes con micrometástasis. Detectados factores de mal pronóstico, como el compromiso de la grasa periganglionar, se podría mejorar la sobrevida de la enfermedad en pacientes seleccionados con terapias...

Introduction: Lymphnode dissection (LND) in penile cancer (PC) plays an important role both in staging andtreatment. Historically, LND has been underused due to the morbidity associated to the surgical procedure. Objective: To study modified inguinal LND for staging and to evaluate involvement of the perinodal fat as a factor for poor prognosis. Material and method: A retrospective review of 40 modified inguinal LND performed in 20 patients with a diagnosis of PC between 1995 and 2009 was done. Mean age was 63.8 years. The lesion had been present an average of 8.2 month prior to the diagnosis. In all cases, the biopsy showed squamus cell carcinoma. Surgical procedure was partial penectomy in 8 patients and total penectomy in 12 cases. All patients underwent modified inguinal LND. Results: Twenty two prophylactic LND were performed. In 4 cases, (+) superficial lymphnodes were obtained and in 1 case, (+) deep lymphnodes were found. Eighteen therapeutic LND were done. In 12 LND, (+) superficial nodes were found and in 4 cases, deep (+) lymphnodes were found. Overall survival at 5 years was 15 percent, whereas the specific survival was 10 percent. Poor prognostic factors were the following: high histologic grade, involvement of deep inguinal nodes and involvement of the perinodal fat. Discussion: Currently, there are no tests with enough sensitivity and specificity to detect lymphnode involvement in PC. Therefore, LND has an important role in staging; however, its therapeutic role is even more important; the procedure might be curative in patients with micrometastases. When poor prognostic factors such as involvement of the perinodal fat are found, survival could be improved using adjuvant therapies like radiation therapy or combined chemotherapy.

Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale.

OBJECTIVES: To describe the clinical evolution of Niemann-Pick C disease to identify possible factors involved in the diagnosis and severity of the disease. METHODS: A clinical database and a severity scale was created to evaluate 45 patients diagnosed with Niemann-Pick type C in the last 28 years in Spain. RESULTS: Complete clinical data were obtained from 30 patients, all were confirmed to have mutations in the NPC1 gene. Regarding clinical form, 3 were perinatal, 7 severe infantile, 6 late infantile, 11 juvenile and 3 adult. Biochemical phenotype was classic in 26. Splenomegaly was present in 28 patients (93%) with a wide range of age at detection. The first symptom of neurological disease was clumsiness, followed in 2-4 years by cerebellar signs. Ophthalmoplegia appeared 2-4 years later and became complete 1-2 years after onset. Dysarthria appeared by the time of complete ophthalmoplegia. Diagnosis was made before the onset of neurological signs in patients with the severe infantile form, at the time of onset of cerebellar signs in the late infantile form and complete ophthalmoplegia in late onset forms. CONCLUSIONS: In our series, splenomegaly is present in 96% of patients, even in late onset forms during the first years of life. Clumsiness in children with otherwise normal motor development precedes the onset of ataxia by 2-4 years in Niemann Pick type C. A disability scale could be useful for monitoring evolution, establishing possible phenotypic correlations and evaluating future therapies.

Observación y quimioterapia profiláctica en el manejo de tumores de células germinales no seminomatosos (estadio I): experiencia del Hospital San Juan de Dios / Observation and prophylactic chemotherapy in management of non seminomatose germinal cell tumours, stadium I: urology service of San Juan de Dios Hospital experience

No existe consenso respecto del manejo de los pacientes con tumor de células germinales no seminomatoso (TCGNS) en estadio I, pudiendo ofrecerles linfadenectomía lumboaórtica, quimioterapia u observación. Presentamos la experiencia del Servicio de Urología del Hospital San Juan de Dios en el manejo de los TCGNS en estadio I. Material y método: Se realizó estudio descriptivo retrospectivo. Se analizaron las historias clínicas de todos los pacientes con tumores testiculares que acuden a control al policlínico de testículo, seleccionando a los pacientes con TCGNS en estadio I. Entre septiembre de 1990 y junio de 2004, se diagnosticaron 48 pacientes con una edad promedio, al momento del diagnóstico, de 28,4 años (15-71). Se analizaron las siguientes variables: lateralidad, tipo histológico, agrupándolos según variedad en pura o mixta, marcadores tumorales, factores de riesgo histológico, tratamiento, número y tipo de controles, periodo de seguimiento y recaída. Resultados: 28 (58,3 pr ciento) tumores fueron derechos; 11 (22,9 por ciento) pacientes presentaron TCGNS puro (6 carcinoma embrionario, 4 teratocarcinoma, 1 tumor de saco vitelino), de los 37 (77,1 por ciento) pacientes con TCGNS mixtos, 23 (47,9 por ciento) presentaban algún grado de carcinoma embrionario; 28 (58,3 por ciento) pacientes tuvieron marcadores tumorales positivos, todos los cuales se negativizaron tras la orquiectomía radical; 18 pacientes tuvieron factor de riesgo en sus biopsias (permeación vascular o linfática, invasión de rete testis o de cordón espermático o de albugínea). A los pacientes con factor de riesgo y a aquellos con un riesgo social de poca adhesión al seguimiento se les sometió a 2 ciclos de quimioterapia con PEB, completando un total de 28 pacientes (58,3 por ciento). A los pacientes se les controló un promedio de 10,4 veces (3-36) con un promedio de 5,1 radiografías de tórax (1-17), 4 ecografías (1-13) y 2,5 TAC (1-11). Presentaron recaída 2 pacientes (4,2 por ciento), ambo...

Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.

To better characterize Niemann-Pick type C (NPC) in Spain and improve genetic counselling, molecular analyses were carried out in 40 unrelated Spanish patients. The search identified 70/80 alleles (88%) involving 38 different NPC1 mutations, 26 of which are described for the first time. No patient with NPC2 mutations was identified. The novel NPC1 mutations include 14 amino acid substitutions [R372W (c.1114C>T), P434L (c.1301C>T), C479Y (c.1436G>A), K576R (c.1727G>A), V727F (c.2179G>T), M754K (c.2261T>A), S865L (c.2594C>T), A926T (c.2776G>A), D948H (c.2842G>C), V959E (c.2876T>A), T1036K (c.3107C>A), T1066N (c.3197C>A), N1156I (c.3467A>T) and F1224L (c.3672C>G)], four stop codon [W260X (c.780G>A), S425X (c.1274C>A), C645X (c.1935T>A) and R1059X (c.3175C>T)], two donor splice-site mutations [IVS7+1G>A (g.31432G>A) and IVS21+2insG (g.51871insG)], one in-frame mutation [N961_F966delinsS (c.2882del16bpins1bp)] and five frameshift mutations [V299fsX8 (c.895insT), A558fsX11 (c.1673insG), C778fsX10 (c.2334insT), G993fsX3 (c.2973_78delG) and F1221fsX20 (c.3662delT)]. We also identified three novel changes [V562V (c.1686G>A), A580A (c.1740C>G) and A1187A (c.3561G>T)] in three independent NPC patients and five polymorphisms that have been described previously. The combination of these polymorphisms gave rise to the establishment of different haplotypes. Linkage disequilibrium was detected between mutations C177Y and G993fsX3 and specific haplotypes, suggesting a unique origin for these mutations. In contrast, I1061T mutation showed at least two different origins. The most prevalent mutations in Spanish patients were I1061T, Q775P, C177Y and P1007A (10, 7, 7 and 5% of alleles, respectively). Our data in homozygous patients indicate that the Q775P mutation correlates with a severe infantile neurological form and the C177Y mutation with a late infantile clinical phenotype.

Electrophysiological approach to the study of essential tremor in children and adolescents.

Surface electromyography and accelerometry provide essential information on the neurophysiological characteristics of essential tremor. There are many reports on neurophysiological features in adult-onset essential tremor, but to our knowledge there have been no similar investigations of essential tremor in children. We conducted a neurophysiological study of nine children, six males and three females, with definite essential tremor. They were subdivided into two groups according to age: a 'children's group', consisting of four patients aged from 7 to 12 years, and an 'adolescent group', consisting of five patients aged from 14 to 16 years. Finger tremor as opposed to hand tremor was studied. In children the mean tremor frequency was 5.3 Hz (SD 0.5) with arms extended, which increased to 8.2 Hz (SD 1.5) when we added a mass of 300 g. In adolescents the mean tremor frequency was 9.0 Hz (SD 1.4) with arms extended, and 7.2 Hz (SD 1.8) with added mass. We discuss several hypotheses to find an explanation for these results.

Trauma renal: revisión de la experiencia del Hospital San Juan de Dios / Renal trauma: review of the experience in the Hospital San Juan de Dios

Revisar la experiencia en trauma renal en el Hospital San Juan de Dios, Servicio de Salud Metropolitano Occidente. Se revisan todos los registros de alta con diagnóstico de trauma renal entre los años 1994 y 2000. Se estudian retrospectivamente todos los registros caracterizando pacientes por edad, sexo, tipo trauma, estudio imagenológico y necesidad de cirugía. Durante el período se hospitalizaron 20 pacientes con diagnóstico de trauma renal. Sus edades oscilan entre los 17 y 64 años (mediana 33), 17 (85 por ciento) corresponden a sexo masculino. 4 (20 por ciento) sufren trauma penetrante, todos ellos por arma blanca, 16 (80 por ciento) presentan trauma contuso, principalmente por accidente automovilístico y caída de altura (66 por ciento). Dieciséis pacientes fueron manejados conservadoramente. De los pacientes que fueron a cirugía, en 2 de ellos se realizó nefrectomía por trauma contuso en riñón patológico. Los otros 2 presentaban trauma penetrante y se realizó nefrorrafia. En 3 pacientes del estudio no se realizó TAC. De los 20 pacientes, 9 fueron GI, 8 GII, 1 GIII, 2 GIV. La experiencia de nuestro servicio reproduce lo publicado. El trauma renal es más frecuente en hombres 4:1, el trauma cerrado es responsable del 80 por ciento de los mecanismos, siendo su génesis los accidentes automovilísticos y caídas. Las lesiones penetrantes se asocian a traumas de mayor grado. El manejo conservador es una alternativa en pacientes con trauma renal penetrante bien etapificado.

Clinicopathological features of genetically confirmed Danon disease.

BACKGROUND: Danon disease is due to primary deficiency of lysosome-associated membrane protein-2. OBJECTIVE: To define the clinicopathologic features of Danon disease. METHODS: The features of 20 affected men and 18 affected women in 13 families with genetically confirmed Danon disease were reviewed. RESULTS: All patients had cardiomyopathy, 18 of 20 male patients (90%) and 6 of 18 female patients (33%) had skeletal myopathy, and 14 of 20 male patients (70%) and one of 18 female patients (6%) had mental retardation. Men were affected before age 20 years whereas most affected women developed cardiomyopathy in adulthood. Muscle histology revealed basophilic vacuoles that contain acid phosphatase-positive material within membranes that lack lysosome-associated membrane protein-2. Heart transplantation is the most effective treatment for the otherwise lethal cardiomyopathy. CONCLUSIONS: Danon disease is an X-linked dominant multisystem disorder affecting predominantly cardiac and skeletal muscles.

Autosomal dominant Emery-Dreifuss muscular dystrophy: a new family with late diagnosis.

Emery-Dreifuss muscular dystrophy is characterized by the clinical triad of early onset contractures of elbows, Achilles tendons and spine, wasting and weakness with a predominantly humero-peroneal distribution and life-threatening cardiac conduction defects and/or cardiomyopathy. Two main types of inheritance have been described: the X-linked form is caused by mutations in the STA gene on locus Xq28 and the gene for the autosomal dominant form (LMNA gene) has been localized on chromosome 1q11-q23. Recently, mutations in this LMNA gene have been also found to be responsible for the less frequent autosomal recessive form of the disease. Although all forms share a similar clinical presentation, some differences appear to exist between them as has been described recently in a large number of patients. We present the first documented Spanish family genetically confirmed to have autosomal dominant Emery-Dreifuss muscular dystrophy. Clinical, pathological and genetic data are described. We emphasize the difficulties in diagnosis, especially in sporadic cases or young patients in whom the clinical picture is not completely established.

Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies.

The clinical, electrophysiological, pathological and genetic findings are described in the first Spanish family diagnosed with hereditary motor and sensory neuropathy type Lom (HMSNL) initially identified by Kalaydjeva et al. in 1996. The three affected patients belong to a non-consanguineous family with Gypsy background that were followed up over 10 years. Serial clinical and neurophysiological examinations and genetic analysis were undertaken in every patient. Sural nerve biopsy was performed in the oldest patient. The clinical features are similar to those previously described in HMSNL and all of them showed abnormal brain auditory evoked potentials. The oldest brother developed sensorineural deafness at the age of 20. Conduction velocities were unobtainable in all patients and nerves tested except for the median nerve in the youngest child in whom conduction was severely slowed. Neuropathological examination revealed a severely depleted nerve with very few surviving myelinated fibers which possessed thin myelin sheaths. Schwann cell processes were arranged in circular configurations without typical onion bulb configuration. Genetic analysis showed that the maternal chromosome inherited by all three affected siblings displayed a very unusual haplotype. Our patients show the characteristic clinical, electrophysiological and pathological findings described in HMSNL and represent the first reported Spanish family affected from the disease. The genetic findings in this family have contributed to refine the HMSNL critical linkage region.

[Aspects of neuropathy in mitochondrial diseases]. / Caracterización de la neuropatía en las enfermedades mitocondriales.

INTRODUCTION: The existence of neuropathy has been described in mitochondrial disorders such as MELAS, MERRF, Leigh's syndrome, the Kearns-Saye syndrome, myoneurogastro-intestinal encephalopathy and progressive external ophthalmoplegia and constitutes a basic component of the NARP (neuropathy, ataxia and retinosis pigmentosa). However, the general prevalence of the neuropathy and its characteristics within the mitochondrial encephalopathies is not well understood. OBJECTIVES: To characterize the neuropathy and try to establish a genotype-phenotype correlation. PATIENTS AND METHODS: Within study guidelines, we made a retrospective study of 27 patients, diagnosed as having mitochondrial disease, who had had neurophysiological studies (EMG-ENG). In those in whom neuropathy had been found we analysed the clinical, neurophysiological and genetic characteristics. RESULTS: Neuropathy was present in 37% of the patients who had an average age of 13 years, ranging from 1 to 25 years. Syndromic diagnoses were: 7 encephalomyopathies, one MELAS, one MERRF and one NARP. Four of the patients were classified genetically. In all but two of the patients the neuropathy was asymptomatic. The biochemical alterations seen were: deficit of Complex 1 in 3 patients, of complex III in 3 patients, of complex IV in 2 and of pyruvate dehydrogenase in one patient. The type of neuropathy found was varied, with predominance of axonal-type motor neuropathy but no correlation with either biochemical defects or genetic diagnosis. CONCLUSIONS: Neuropathy is a common finding in mitochondrial disorders and probably is under-diagnosed. The axonal form predominates. We have not been able to establish correlations between phenotypes and genotypes.

Caracterización de la neuropatía en las enfermedades mitocondriales / Characterization of the neuropathy in mitochondrial disorders

Introducción. La existencia de neuropatía en las enfermedades mitocondriales ha sido descrita en distintos síndromes tales como el MELAS, el MERRF, el síndrome de Leigh, el síndrome de Kearns-Sayre, la encefalopatía mioneurogastrointestinal y la oftalmoplejía externa progresiva, siendo un componente fundamental del NARP (neuropatía, ataxia y retinitis pigmentaria). Sin embargo, la prevalencia general de la neuropatía y sus características dentro de las encefalopatías mitocondriales no es bien conocida. Objetivos. Caracterizar la neuropatía e intentar establecer una correlación genotipo-fenotipo. Pacientes y métodos. Se estudiaron retrospectivamente, dentro de un protocolo de estudio, 27 pacientes con diagnóstico de enfermedad mitocondrial a quienes se realizó estudios neurofisiológicos (EMG-ENG). En aquellos en los que se encontró neuropatía se analizaron las características clínicas, neurofisiológicas y genéticas. Resultados. Presentaron neuropatía un 37 por ciento de los pacientes, con una edad media de 13 años e intervalo entre 1 y 25 años. El diagnóstico sindrómico fue de siete encefalomiopatías, un MELAS, un MERRF y un NARP. Cuatro de los pacientes fueron catalogados genéticamente. En todos los pacientes excepto en dos la neuropatía fue asintomática. Las alteraciones bioquímicas observadas fueron: déficit del complejo I en tres pacientes, del complejo III en tres pacientes, déficit del complejo IV en dos y déficit de la piruvato deshidrogenasa en un paciente. El tipo de neuropatía encontrado fue diverso con predominio de la neuropatía motora de carácter axonal y sin encontrar correlaciones con el defecto bioquímico o diagnóstico genético. Conclusiones. La neuropatía es un hallazgo frecuente en las enfermedades mitocondriales y probablemente está infradiagnosticada. La forma axonal es la predominante. No hemos podido establecer correlaciones entre fenotipo y genotipo (AU)

[Electroclinical and neuroimaging studies in epilepsy]. / Estudio electroclínico y de neuroimagen en epilepsia.

INTRODUCTION AND MATERIAL: During 54 months, we have studied the electro-clinical and neuroimaging features in outpatients with active epilepsy. Each patient was interviewed for one of us. Then, we have reviewed the medical records about both the clinical featuring. EEG and neuroimaging (NI) studies and seizures frequency (SF) outcome. Differences in crude proportions were assessed by chi 2 test for independence by 2 x 2 tables. RESULTS AND CONCLUSIONS: It has been 207 patients with 49 +/- 19.6 years of mean age at review. Partial seizures was significantly related with both a higher SF at onset and politherapy. Also, with a focal EEG distribution but only in case of complex partial seizures. Abnormal NI was significantly more frequent in oldest patients. A greater proportion of patients were in politherapy in four situation: SF at onset > 1 by day, a focal EEG distribution, duration of epilepsy longer than 20 years and age of onset lesser than 60 years. A 37.2% was seizures-free in the last year and in 34% the SF was improved a 50% or more from the beginning. A significantly greater proportion of patients was following with seizures in four cases: when the SF at onset has been > or = 1 by day, being partial seizures, women and having politherapy.

[Determining factors in decisions regarding cardio-pulmonary resuscitation in patients with cerebral hemorrhage]. / Factores determinantes de las decisiones de reanimación cardiopulmonar en pacientes con hemorragia cerebral.

INTRODUCTION AND OBJECTIVE: Some medical factors related with cardiopulmonary resuscitation (CPR) outcome are known. Moreover, there are other factors, not strictly medical ones, as age, gender, race and socioeconomic status, that influence on decisions of CPR. The aim of this study was to analyse the influence of all this factors on in-hospital CPR of the patients with intracerebral hemorrhage. MATERIAL AND METHODS: This retrospective study comprised all the consecutive patients hospitalized with spontaneous intracerebral hemorrhage who died within 30 days of hospital admission in a public hospital during the period 1987-1994. We used stepwise logistic regression to identify variables that had a significant independent relation with decision of CPR. RESULTS: We identified 73 patients, 50 men and 23 women. Their mean age was 61 years. RCP was performed in 25 patients (34%). A logistic regression revealed that age (OR 0.8), Glasgow score on admission (OR 0.67) and time of death (OR 1.2) were significantly associated with CPR decision. CONCLUSIONS: CPR was less probable in aged even though they had better level of consciousness on admission. Moreover, CPR was less probable early in the morning.