K-edge imaging with the XPAD3 hybrid pixel detector, direct comparison of CdTe and Si sensors.

We investigate the improvement from the use of high-Z CdTe sensors for pre-clinical K-edge imaging with the hybrid pixel detectors XPAD3. We compare XPAD3 chips bump bonded to Si or CdTe sensors in identical experimental conditions. Image performance for narrow energy bin acquisitions and contrast-to-noise ratios of K-edge images are presented and compared. CdTe sensors achieve signal-to-noise ratios at least three times higher than Si sensors within narrow energy bins, thanks to their much higher detection efficiency. Nevertheless Si sensors provide better contrast-to-noise ratios in K-edge imaging when working at equivalent counting statistics, due to their better estimation of the attenuation coefficient of the contrast agent. Results are compared to simulated data in the case of the XPAD3/Si detector. Good agreement is observed when including charge sharing between pixels, which have a strong impact on contrast-to-noise ratios in K-edge images.

[West syndrome: aetiology, therapeutic options, clinical course and prognostic factors]. / Sindrome de West: etiologia, opciones terapeuticas, evolucion clinica y factores pronosticos.

INTRODUCTION: West syndrome is an age-specific form of epilepsy that associates infantile spasms, hypsarrhythmia and a delay in or the complete stoppage of psychomotor development, although this last case is not essential. AIMS: To define the profile of West syndrome in our environment by taking into account its aetiology, semiology, response to different therapeutic options and the appearance of side effects, as well as to establish prognostic factors that determine its course. PATIENTS AND METHODS: A data collection document stating the eligibility criteria was drafted. Data were collected by reviewing the medical records of patients diagnosed with West syndrome during the period between January 2003 and January 2009. Later, a statistical study was conducted with descriptive analysis and the level of statistical significance of the possible prognostic factors was established. RESULTS: The study included 70 patients. There was a predominance of symptomatic aetiology, with hypoxia-ischaemia as the main cause. Regardless of the aetiology, 58% of patients responded to treatment with vigabatrine. Over 80% of patients being treated with adrenocorticotropic hormone were finally seizure-free and without hypsarrhythmia. Almost half the patients progressed to other epilepsies. CONCLUSIONS: The statistically significant poor prognostic factors were: existence of a prenatal history, neonatal history, symptomatic aetiology, age of onset below 4 months, epileptic seizures before the onset of the spasms and outside the neonatal period, and delayed psychomotor development prior to the onset of the spasms.

Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series.

Niemann-Pick disease type C (NP-C) is an inherited neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration. Different clinical forms have been defined based on patient age at onset: perinatal, early-infantile (EI), late-infantile (Li), juvenile and adult. We evaluated the efficacy and tolerability of miglustat in 16 symptomatic NP-C patients, with comparative reference to one neurologically asymptomatic, untreated patient. All patients were categorized according to age at neurological disease onset, and were assessed using a standardized clinical assessment protocol: disability and cognitive function scales, positron emission tomography (PET), and biochemical markers. PET and disability scale evaluations indicated that cerebral hypometabolism and neurological symptoms were stabilized during treatment in juvenile-onset NP-C patients. EI and Li NP-C patients, who had higher disease severity at baseline (treatment start), showed increased disability scores and progressive cerebral hypometabolism during follow up. Similarly, while cognitive scale scores remained relatively stable in patients with juvenile NP-C, cognition deteriorated in EI and Li patients. Plasma chitotriosidase (ChT) activity was lower in the juvenile NP-C subgroup than in EI and Li patients, and generally increased in patients who discontinued treatment. Plasma CCL18/PARC and ChT activities indicated greater macrophagic activity in EI and Li patients versus juveniles. Miglustat was generally well tolerated; frequent adverse events included diarrhea and flatulence, which were managed effectively by dietary modification and loperamide. Overall, miglustat appeared to stabilize neurological status in juvenile-onset NP-C patients, but therapeutic benefits appeared smaller among younger patients who were at a more advanced stage of disease at baseline.

Crisis epilépticas en el síndrome de Angelman / Epileptic seizures in angelman syndrome

Introducción. El síndrome de Angelman (SA) es un trastorno de base genética heterogénea caracterizado por retraso mental grave, ausencia del lenguaje, ataxia, dismorfia craneofacial y un fenotipo conductual característico. Pacientes y métodos. Se analizan 12 pacientes diagnosticados de SA y epilepsia, con una edad media de 10,9 años. El estudio se centra en las características de la epilepsia y trata de correlacionar los hallazgos con el genotipo de la enfermedad. Resultados. Todos presentaron crisis generalizadas de inicio precoz y, salvo uno, crisis polimorfas. Ocho de ellos presentaron también crisis focales. Todos los pacientes mostraban alteraciones electroencefalográficas antes de los dos años. Aunque no hay alteracionespatognomónicas en el electroencefalograma (EEG), su conocimiento en el SA puede ser un importante elemento de valoración para el diagnóstico precoz de esta entidad. En nuestra serie, todos los pacientes con deleción 15q11-13 presentaron el EEG típico de la enfermedad. El fármaco antiepiléptico más usado y más eficaz fue el ácido valproico (utilizado en todos lospacientes), seguido de lamotrigina y clobazam. En algún paciente se ensayaron hasta 10 fármacos antiepilépticos. La epilepsia suele ser de inicio muy precoz, e incluso precede al diagnóstico de SA en la mayoría de los casos, por lo que las crisis epilépticas pueden ser un elemento importante para llegar a un diagnóstico precoz. Es fundamental la adecuada tipificación de dichas crisis. Conclusión. El SA debe considerarse como diagnóstico diferencial en aquellos niños que presenten una epilepsiaprecoz y grave, en unión de un retraso psicomotor, con importante afectación de la marcha y el lenguaje. Este diagnóstico está apoyado por los hallazgos típicos en el EEG

Introduction. Angelman syndrome (AS) is a heterogeneous genetically-based disorder that is characterised bysevere mental retardation, absence of language, ataxia, craniofacial dysmorphia and a characteristic behavioural phenotype.Patients and methods. We analyse 12 patients with a mean age of 10.9 years diagnosed with AS. The study focuses on the characteristics of epilepsy and attempts to correlate the findings with the genotype of the disease. Results. All the patients presented early-onset generalised seizures and all except one had polymorphic seizures. Eight of them also presented focalseizures. All the patients displayed electroencephalographic alterations before the age of two years. Although there are no pathognomonic abnormalities in the electroencephalogram (EEG), knowledge of them in AS can be an important element ofassessment for reaching an early diagnosis of this condition. In our series, all the patients with 15q11-13 deletion presented an EEG pattern that was typical of the disease. The most commonly used and most effective antiepileptic drug was valproic acid (used in all patients), followed by lamotrigine and clobazam. Up to 10 antiepileptic drugs had been tried in some patients. Epilepsy usually has a very early onset and even precedes the diagnosis of AS in most cases, which means that the epileptic seizures can be an important aid in reaching an early diagnosis. Suitable classification of such seizures is essential.Conclusions. AS must be considered as a differential diagnosis in children who present early severe epilepsy together with psychomotor retardation and important gait and language disorders. This diagnosis is backed by the typical findings in the EEG

[Epileptic seizures in Angelman syndrome]. / Crisis epilépticas en el síndrome de Angelman.

INTRODUCTION: Angelman syndrome (AS) is a heterogeneous genetically-based disorder that is characterised by severe mental retardation, absence of language, ataxia, craniofacial dysmorphia and a characteristic behavioural phenotype. PATIENTS AND METHODS: We analyse 12 patients with a mean age of 10.9 years diagnosed with AS. The study focuses on the characteristics of epilepsy and attempts to correlate the findings with the genotype of the disease. RESULTS: All the patients presented early-onset generalised seizures and all except one had polymorphic seizures. Eight of them also presented focal seizures. All the patients displayed electroencephalographic alterations before the age of two years. Although there are no pathognomonic abnormalities in the electroencephalogram (EEG), knowledge of them in AS can be an important element of assessment for reaching an early diagnosis of this condition. In our series, all the patients with 15q11-13 deletion presented an EEG pattern that was typical of the disease. The most commonly used and most effective antiepileptic drug was valproic acid (used in all patients), followed by lamotrigine and clobazam. Up to 10 antiepileptic drugs had been tried in some patients. Epilepsy usually has a very early onset and even precedes the diagnosis of AS in most cases, which means that the epileptic seizures can be an important aid in reaching an early diagnosis. Suitable classification of such seizures is essential. CONCLUSIONS: AS must be considered as a differential diagnosis in children who present early severe epilepsy together with psychomotor retardation and important gait and language disorders. This diagnosis is backed by the typical findings in the EEG.

Síndrome de Bruck: osteogénesis imperfecta con contracturas articulares congénitas / Bruck syndrome: Osteogenesis imperfecta with congenital joint contractures

No disponible

[Pathological neocortical findings in patients with medication-resistant medial temporal lobe epilepsy submitted to surgery]. / Hallazgos patológicos neocorticales en pacientes con epilepsia del lóbulo temporal medial farmacorresistente sometidos a cirugía.

INTRODUCTION: The dual pathology consisting of hippocampal sclerosis plus focal cortical dysplasia (FCD) is often reported in patients with medication-resistant medial temporal lobe epilepsy (MTLE). AIMS: To determine the histopathological changes that take place in the neocortex of patients with medication-resistant MTLE submitted to surgery and to evaluate the relation between the histopathological changes, pathological background and the clinical course of patients who had received surgical treatment. MATERIALS AND METHODS: Tissue obtained by en bloc resection from the neocortex of 18 patients with MTLE refractory to medical treatment was processed histologically and a tailored temporal lobectomy was performed with electrocorticography. RESULTS: Dual pathology was diagnosed in 13 patients (72.2%). Imaging studies confirmed the existence of mesial sclerosis of the temporal in 100% of cases and there was no evidence of neocortical lesions. Histologically, 46.15% and 38.46% of the patients were diagnosed as belonging to FCD type 1a and FCD type 1b, respectively. Only one patient presented FCD type 2a. A statistically significant relation was found between the presence of dual pathology and the existence of an early precipitating injury (p = 0.04). One year after surgery, 72.7% (8/11) patients with dual pathology were classified as belonging to Engel class I. CONCLUSIONS: In patients with MTLE there are microscopic FCD-type alterations in the neocortex. There is an association between these alterations and the existence of an initial precipitating injury. Complete resection of the epileptogenic area, which is guaranteed by the lobectomy tailored by electrocorticography, allows patients to enjoy a favourable post-surgical progression one year after surgery.

Hallazgos patológicos neocorticales en pacientes con epilepsia del lóbulo temporal medial farmacorresistente sometidos a cirugía / Pathological neocortical findings in patients with medication-resistant medial temporal lobe epilepsy submitted to surgery

Introducción. La patología dual compuesta por esclerosis hipocampal y displasia cortical focal (DCF) se describecon frecuencia en pacientes con epilepsia del lóbulo temporal medial (ELTM) farmacorresistente. Objetivos. Determinar los cambios histopatológicos en la neocorteza de pacientes con ELTM farmacorresistente sometidos a cirugía y evaluar la relación entre los cambios histopatológicos, los antecedentes patológicos y la evolución clínica en los pacientes operados. Materialesy métodos. Se procesó histológicamente el tejido resecado en bloque (neocorteza) de 18 pacientes con ELTM refractaria a tratamiento médico, y se les realizó lobectomía temporal ajustada por electrocorticografía. Resultados. Se diagnóstico patología dual en 13 pacientes (72,2por ciento). Los estudios imagenológicos confirmaron en el 100por ciento de los casos la esclerosis mesial del temporal y no existieron evidencias de lesión neocortical. Histológicamente, el 46,15 por ciento y el 38,46 por ciento de los pacientesfueron diagnosticados como DCF tipo 1a y DCF tipo 1b, respectivamente. Sólo un paciente presentó DCF tipo 2a. Se demostró una relación estadísticamente significativa entre la presencia de patología dual y la existencia de una daño precipitante inicial (p = 0,04). El 72,7por ciento (8/11) de los pacientes con patología dual un año después de la cirugía se clasificó en la clase Ide Engel. Conclusiones. En los pacientes con ELTM existen alteraciones microscópicas en la neocorteza del tipo DCF. Estas alteraciones se asocian a la existencia de un daño precipitante inicial. La resección completa de la zona epileptogénica, garantizada por la lobectomía ajustada por electrocorticografía, permite una buena evolución posquirúrgica un año después de la cirugía(AU)

INTRODUCTION: The dual pathology consisting of hippocampal sclerosis plus focal cortical dysplasia (FCD) is often reported in patients with medication-resistant medial temporal lobe epilepsy (MTLE). AIMS: To determine the histopathological changes that take place in the neocortex of patients with medication-resistant MTLE submitted to surgery and to evaluate the relation between the histopathological changes, pathological background and the clinical course of patients who had received surgical treatment. MATERIALS AND METHODS: Tissue obtained by en bloc resection from the neocortex of 18 patients with MTLE refractory to medical treatment was processed histologically and a tailored temporal lobectomy was performed with electrocorticography. RESULTS: Dual pathology was diagnosed in 13 patients (72.2percent). Imaging studies confirmed the existence of mesial sclerosis of the temporal in 100 percent of cases and there was no evidence of neocortical lesions. Histologically, 46.15 percent and 38.46 percent of the patients were diagnosed as belonging to FCD type 1a and FCD type 1b, respectively. Only one patient presented FCD type 2a. A statistically significant relation was found between the presence of dual pathology and the existence of an early precipitating injury (p = 0.04). One year after surgery, 72.7percent (8/11) patients with dual pathology were classified as belonging to Engel class I. CONCLUSIONS: In patients with MTLE there are microscopic FCD-type alterations in the neocortex. There is an association between these alterations and the existence of an initial precipitating injury. Complete resection of the epileptogenic area, which is guaranteed by the lobectomy tailored by electrocorticography, allows patients to enjoy a favourable post-surgical progression one year after surgery(AU)

Hallazgos patológicos neocorticales en pacientes con epilepsia del lóbulo temporal medial farmacorresistente sometidos a cirugía / Pathological neocortical findings in patients with medication-resistant medial temporal lobe epilepsy submitted to surgery

La patología dual compuesta por esclerosis hipocampal y displasia cortical focal (DCF) se describecon frecuencia en pacientes con epilepsia del lóbulo temporal medial (ELTM) farmacorresistente. Objetivos. Determinar los cambios histopatológicos en la neocorteza de pacientes con ELTM farmacorresistente sometidos a cirugía y evaluar la relación entre los cambios histopatológicos, los antecedentes patológicos y la evolución clínica en los pacientes operados. Materialesy métodos. Se procesó histológicamente el tejido resecado en bloque (neocorteza) de 18 pacientes con ELTM refractaria a tratamiento médico, y se les realizó lobectomía temporal ajustada por electrocorticografía. Resultados. Se diagnóstico patología dual en 13 pacientes (72,2%). Los estudios imagenológicos confirmaron en el 100% de los casos la esclerosis mesialdel temporal y no existieron evidencias de lesión neocortical. Histológicamente, el 46,15% y el 38,46% de los pacientes fueron diagnosticados como DCF tipo 1a y DCF tipo 1b, respectivamente. Sólo un paciente presentó DCF tipo 2a. Se demostró una relación estadísticamente significativa entre la presencia de patología dual y la existencia de una daño precipitante inicial (p = 0,04). El 72,7% (8/11) de los pacientes con patología dual un año después de la cirugía se clasificó en la clase Ide Engel. Conclusiones. En los pacientes con ELTM existen alteraciones microscópicas en la neocorteza del tipo DCF. Estas alteraciones se asocian a la existencia de un daño precipitante inicial. La resección completa de la zona epileptogénica, garantizadapor la lobectomía ajustada por electrocorticografía, permite una buena evolución posquirúrgica un año después de la cirugía

The dual pathology consisting of hippocampal sclerosis plus focal cortical dysplasia (FCD) is oftenreported in patients with medication-resistant medial temporal lobe epilepsy (MTLE). Aims. To determine the histopathological changes that take place in the neocortex of patients with medication-resistant MTLE submitted to surgery and to evaluate the relation between the histopathological changes, pathological background and the clinical course of patients whohad received surgical treatment. Materials and methods. Tissue obtained by en bloc resection from the neocortex of 18 patients with MTLE refractory to medical treatment was processed histologically and a tailored temporal lobectomy was performed with electrocorticography. Results. Dual pathology was diagnosed in 13 patients (72.2%). Imaging studies confirmed the existenceof mesial sclerosis of the temporal in 100% of cases and there was no evidence of neocortical lesions. Histologically, 46.15% and 38.46% of the patients were diagnosed as belonging to FCD type 1a and FCD type 1b, respectively. Only one patient presented FCD type 2a. A statistically significant relation was found between the presence of dual pathology and the existenceof an early precipitating injury (p = 0.04). One year after surgery, 72.7% (8/11) patients with dual pathology were classified as belonging to Engel class I. Conclusions. In patients with MTLE there are microscopic FCD-type alterations in the neocortex.There is an association between these alterations and the existence of an initial precipitating injury. Complete resection of the epileptogenic area, which is guaranteed by the lobectomy tailored by electrocorticography, allows patients to enjoy a favourable post-surgical progression one year after surgery

Aciduria glutárica tipo I con fenotipo bioquímico de baja excreción asociado a una nueva mutación / Glutaric aciduria type I with a low-excretion biochemical phenotype associated to a new mutation

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[Anhidrosis and hyperthermia associated with treatment with topiramate]. / Anhidrosis e hipertermia asociadas al tratamiento con topiramato.

INTRODUCTION: It has been observed that if topiramate (TPM) is given together with other antiepileptic drugs when the temperature of the environment is high, a disorder involving sweating and thermo regulation may be seen as a side effect. PATIENTS AND METHODS: We describe ten patients, of an average age of 7 years and 8 months, with refractory epileptic seizures. All were treated with topiramate, associated with the antiepileptic drugs they had been taking previously. During the summer months, when the environmental temperature was over 37 C, they had slight hyperthermia, hypohydrosis or more usually anhydrosis, red faces and tiredness which was markedly worse on effort. In one case there was also retention of urine and four others had known side effects. In seven patients the symptoms disappeared when the dose of TPM was reduced or the environment became cooler. In the other three cases TPM was withdrawn, due to the severe adverse effects seen in two cases and for being ineffective as treatment in the other cases. CONCLUSIONS: It is considered that in predisposed children, TPM causes autonomic dysfunction, probably of central origin, which is seen as a disorder of sweating and thermoregulation. Although the mechanism of this disorder is not known, since it occurs when the temperature is over 37 C, it would seem that it is due to a reduction in carbonic anhydrase isoenzymes II and IV. We suggest that it would be useful to establish a method to predict the patients at risk in summer, in hot regions, at the first sign of fatigability.

Anhidrosis e hipertermia asociadas al tratamiento con topiramato / Anhydrosis and hyperthermia associated with treatment with topiramate

Introducción. Se ha observado que el tratamiento con topiramato (TPM) añadido a otros fármacos antiepilépticos, cuando la temperatura ambiental es alta, produce un trastorno de la sudación y termorregulación como efecto adverso. Pacientes y métodos. En 10 pacientes, con edad media de 7 años y 8 meses, afectos de crisis epilépticas refractarias y en tratamiento con TPM combinado con los fármacos que tomaba con anterioridad, durante los meses de verano, cuando la temperatura ambiental sobrepasa los 37 ºC, se ha presentado leve hipertermia, hipo o habitualmente anhidrosis, nrojecimiento facial y cansancio que se acentúa sensiblemente con el esfuerzo. En un caso se ha asociado a retención de orina y en otros cuatro a efectos adversos ya conocidos. En siete pacientes, los síntomas desaparecieron al disminuir la dosis de TPM o al bajar la temperatura ambiental. En otros tres casos se suspendió TPM, por la gravedad de los efectos adversos en dos, y en otro, por ineficacia terapéutica. Conclusiones. Se estima que el TPM produce en niños predispuestos una disfunción autonómica, de probable origen central, que se expresa por un trastorno de la sudación y termorregulación. Aunque el mecanismo de producción de este trastorno se desconoce, el hecho de que aparezca a partir de los 37 ºC sugiere que se deba a la disminución de las isoenzimas II y IV de la anhidrasa carbónica. Se sugiere la conveniencia de establecer un método para predecir los pacientes de riesgo en verano, en regiones calurosas, al menor signo de fatiga (AU)

Intramuscular lipoma of the deltoid mimicking a sarcoma. A case report.

The authors present a case of intramuscular lipoma of the deltoid, one of the largest ever to be described in the literature, clinically confused with a sarcoma.

Topiramate in the treatment of severe myoclonic epilepsy in infancy.

The aim of this study was to assess the effectiveness of topiramate (TPM) as an add-on regimen in reducing seizure rate in a population sample of patients diagnosed with severe myoclonic epilepsy in infancy (SME). Eighteen patients were evaluated. The mean observation time was 10.5 months (range, 6-18 months). Seizure frequency and type were recorded. Topiramate was administered as an add-on regimen at a starting dose of 1 mg kg(-1)and titrated to a maximum of 6-8 mg per kg per day. Different escalation rates were used, mainly weekly or fortnightly increments of dose. Three patients (16.6%) became seizure free, and 10 (55.6%) had a >50% reduction in seizure frequency: six of them (22.2%) achieved a reduction greater than 75%. Side-effects were observed in nine patients, eight with a weekly titration schedule and one with a fortnightly schedule. TPM is effective as adjunctive therapy for SME. Side-effects were mild and transient, generally related to rapid dosage titration.

[Clinical course of epileptic seizures in Rett's syndrome]. / Evolución de las crisis epilépticas en el síndrome de Rett.

INTRODUCTION: Seventeen girls diagnosed as Rett syndrome (RS) patients suffer or have suffered epileptic fits; we have analyzed the evolution of these seizures. The RS diagnosis is based on criteria established by the Rett Syndrome Diagnostic Criteria Working Group in 1988. PATIENTS AND METHODS: All girls have had clinical, biochemical, electroneurophysiological neuroimaging and cytogenetic studies done on them. Periodic EEG were carried out while the girls were awake; all had night-time EEGs done. The females are aged between 7 y 5 m, and 22 y 7 m (medium 14 years, 8 months). The age at first seizure was between 18 m and 7 y 8 m (median 4 years 5 months). RESULTS: The clinic semiology is in decreasing order: tonic, generalized clonic, partial, absence and myoclonic seizures; eight patients have had more than one type of seizures. The frequency is variable: one or more continuous seizures in 6 cases, sporadic seizures in 3 cases, series of seizures in 4 cases, and subnitrant seizures in 4 cases. The evolution is variable: 6 cases have presented only the first fit, and 11 cases recurrent seizures which in 5 have ceased between 8 and 9 years, and 1 case at 13 years. CONCLUSIONS: The study shows that the epileptic seizures in RS present three evolution profiles: 1. One or more non recurrent seizures (35.3%); 2. Recurrent seizures until 8-9 years (35.3%); 3. Recurrent seizures in subnitrant form which continued after puberty (29.4%).

A comprehensive screening program in South Brazil.

We present the experience and figures about a screening program in South Brazil carried on in Porto Alegre, capital of the Southern Brazilian State. We present the tests performed routinely in our laboratory, the prevalence of some diseases and tests for infectious diseases to be added in the most comprehensive regional program in our country.

G6PD deficiency in an unselected Brazilian population.

Data about glucose-6-phosphate dehydrogenase (G6PD) deficiency are not available in Brazil, a country characterized by a great mix of races. The disease is associated with ethnic groups. High prevalence (5 to 25%) has been reported in Africa, Asia, Middle East and the Mediterranean. We present here the first report of our one year experience testing for G6PD in an unselected population in the south of Brazil.