Angiosarcoma en linfedema crónico (síndrome de Stewart-Treves) / Angiosarcoma in Chronic Lymphedema (Stewart-Treves Syndrome)

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[Functional hemispherectomy in adult patients with catastrophic epilepsy: a new therapeutic indication?]. / La hemisferectomía funcional también es eficaz en pacientes adultos con epilepsia catastrófica: ¿una nueva indicación terapéutica?

Functional hemispherectomy was reported in 1983 for the treatment of catastrophic refractory epilepsies in order to reduce the complications derived by the anatomical hemispherectomy. A series of variants of the functional hemisphectomy have been reported. They include peri-insular hemispherectomy, modified lateral hemispherectomy, vertical parasagital hemispherectomy. The functional hemispherectomy has been used mainly in the treatment of catastrophic epilepsies in children, in which extensive hemispheric lesions are associated with pharmacoresistant epileptic seizures and focal neurological deficit such as: Rasmussen's encephalitis, hemimegalencephaly, Sturge-Weber syndrome, and extensive hemispheric cortical dysplasias, etc. Recently, two series of adults patients with catastrophic epilepsies with excellent control of the episodes (above 75 %) and without mortality have been reported. Thus, functional hemispherectomy may be an effective procedure in appropriately selected adult patients, although more studies with larger series are still needed to evaluate the long-term prognosis.

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.

BACKGROUND: Juvenile myoclonic epilepsy (JME) accounts for 3 to 12% of all epilepsies. In 2004, the GENESS Consortium demonstrated four missense mutations in Myoclonin1/EFHC1 of chromosome 6p12.1 segregating in 20% of Hispanic families with JME. OBJECTIVE: To examine what percentage of consecutive JME clinic cases have mutations in Myoclonin1/EFHC1. METHODS: We screened 44 consecutive patients from Mexico and Honduras and 67 patients from Japan using heteroduplex analysis and direct sequencing. RESULTS: We found five novel mutations in transcripts A and B of Myoclonin1/EFHC1. Two novel heterozygous missense mutations (c.755C>A and c.1523C>G) in transcript A occurred in both a singleton from Mexico and another singleton from Japan. A deletion/frameshift (C.789del.AV264fsx280) in transcript B was present in a mother and daughter from Mexico. A nonsense mutation (c.829C>T) in transcript B segregated in four clinically and seven epileptiform-EEG affected members of a large Honduran family. The same nonsense mutation (c.829C>T) occurred as a de novo mutation in a sporadic case. Finally, we found a three-base deletion (-364--362del.GAT) in the promoter region in a family from Japan. CONCLUSION: Nine percent of consecutive juvenile myoclonic epilepsy cases from Mexico and Honduras clinics and 3% of clinic patients from Japan carry mutations in Myoclonin1/EFCH1. These results represent the highest number and percentage of mutations found for a juvenile myoclonic epilepsy causing gene of any population group.

[The prevalence of cerebrovascular disease in the rural community of Salamá, Honduras, using the capture-recapture epidemiological method]. / Prevalencia de la enfermedad cerebrovascular en la comunidad rural de Salamá, Honduras, utilizando el método epidemiológico de captura-recaptura.

INTRODUCTION: Cerebrovascular disease (CVD) is one of the leading causes of mortality and disability in Honduras. In 2001 the first epidemiological study conducted into stroke or CVD in the urban district of Colonia Kennedy in Tegucigalpa, Honduras, was published; the prevalence rate was found to be 5.7 x 1000 inhabitants. To date few epidemiological studies have been carried out on CVD in rural areas of Central America. AIM: To determine the prevalence of CVD in the rural community of Salama, Olancho, Honduras, using the epidemiological method known as capture-recapture. SUBJECTS AND METHODS: The capture-recapture technique includes three sources of data: door-to-door interviews, research of medical records and interviews held with community leaders. All the residents in the rural community of Salama, Olancho, in north-western Honduras, were evaluated and the prevalence day was 5th May, 2005. The World Health Organisation's definition of CVD and the recommendations of the 'Global stroke initiative' were used. RESULTS: A total of 1121 households were visited, which involved a total population of 5608 inhabitants. The prevalence for CVD was found to be 3.6 x 1000 inhabitants. CONCLUSIONS: The prevalence rate for CVD in the rural community of Salama, Honduras, is similar to that reported for other rural regions of Latin America. The capture-recapture technique is recommended for conducting studies into the prevalence of stroke in rural areas.

Prevalencia de la enfermedad cerebrovascular en la comunidad rural de Salamá, Honduras, utilizando el método epidemiológico de captura-recaptura / The prevalence of cerebrovascular disease in the rural community of Salamá, Honduras, using the capture-recapture epidemiological method

Introducción. La enfermedad cerebrovascular (ECV) representa una de las principales causas de mortalidad y discapacidad en Honduras. En el año 2001 se comunicó el primer estudio epidemiológico de ictus o ECV en la zona urbana de la Colonia Kennedy en Tegucigalpa, Honduras, encontrándose una prevalencia de 5,7 × 1.000 habitantes. Hasta el momento existen escasos estudios epidemiológicos sobre la ECV en zonas rurales de América Central. Objetivo. Determinar la prevalencia de ECV en la comunidad rural de Salamá, Olancho, Honduras, utilizando el método epidemiológico de captura-recaptura. Sujetos y métodos. Se utilizó la técnica epidemiológica de captura-recaptura, que incluyó tres fuentes de datos: entrevista casa por casa, búsqueda de registros médicos y entrevista a líderes de la comunidad. Se evaluaron todos los residentes de la comunidad rural de Salamá, Olancho, en el noreste de Honduras, y el día de prevalencia fue el 5 de mayo del 2005. Se utilizó la definición de ECV de la Organización Mundial de la Salud y las recomendaciones de la ‘Iniciativa global de ECV’. Resultados. Se visitó un total de 1.121 casas, abarcando una población total de 5.608 habitantes. La prevalencia encontrada para ECV fue de 3,6 × 1.000 habitantes. Conclusiones. La tasa de prevalencia de ECV encontrada en la comunidad rural de Salamá, Honduras, es similar a la de otros informes hechos en zonas rurales de Latinoamérica. Se recomienda la técnica epidemiológica de captura-recaptura para la realización de estudios de prevalencia de ictus en zonas rurales

Introduction. Cerebrovascular disease (CVD) is one of the leading causes of mortality and disability in Honduras. In 2001 the first epidemiological study conducted into stroke or CVD in the urban district of Colonia Kennedy in Tegucigalpa, Honduras, was published; the prevalence rate was found to be 5.7 × 1000 inhabitants. To date few epidemiological studies have been carried out on CVD in rural areas of Central America. Aim. To determine the prevalence of CVD in the rural community of Salamá, Olancho, Honduras, using the epidemiological method known as capture-recapture. Subjects and methods. The capture-recapture technique includes three sources of data: door-to-door interviews, research of medical records and interviews held with community leaders. All the residents in the rural community of Salamá, Olancho, in northwestern Honduras, were evaluated and the prevalence day was 5th May, 2005. The World Health Organisation’s definition of CVD and the recommendations of the ‘Global stroke initiative’ were used. Results. A total of 1121 households were visited, which involved a total population of 5608 inhabitants. The prevalence for CVD was found to be 3.6 × 1000 inhabitants. Conclusions. The prevalence rate for CVD in the rural community of Salamá, Honduras, is similar to that reported for other rural regions of Latin America. The capture-recapture technique is recommended for conducting studies into the prevalence of stroke in rural areas

Treatment of neurocysticercosis: current status and future research needs.

Here we put forward a roadmap that summarizes important questions that need to be answered to determine more effective and safer treatments. A key concept in management of neurocysticercosis is the understanding that infection and disease due to neurocysticercosis are variable and thus different clinical approaches and treatments are required. Despite recent advances, treatments remain either suboptimal or based on poorly controlled or anecdotal experience. A better understanding of basic pathophysiologic mechanisms including parasite survival and evolution, nature of the inflammatory response, and the genesis of seizures, epilepsy, and mechanisms of anthelmintic action should lead to improved therapies.

Sero-prevalence of Taenia solium cysticercosis and Taenia solium taeniasis in California, USA.

OBJECTIVES: Taenia solium Cysticercosis is a leading cause of epilepsy and neurological disability in the developing world. It is caused by ingestion of the eggs of the tapeworm, T. solium Taeniasis. The prevalence of either T. solium Cysticercosis or T. solium Taeniasis in the United States in populations at risk is poorly understood. The primary objectives of this study are to perform the first study of the sero-prevalence of T. solium Cysticercosis and T. solium Taeniasis in an at-risk community in the USA, specifically rural Southern California; identify T. solium Taeniasis positive individuals, and treat positive individuals for the tapeworm T. solium Taeniasis. METHODS: Community based sero-prevalence study of antibodies to T. solium Cysticercosis and T. solium Taeniasis in 449 subjects living in a federally funded, predominantly Hispanic residential community; and in two migrant farm worker camps in rural Ventura County, California, USA. For this study, fingerstick blood samples were obtained. Serum immunoblots for both T. solium Cysticercosis and T. solium Taeniasis were performed. RESULTS: The sero-prevalence of T. solium Cysticercosis was 1.8% and the sero-prevalence of T. solium Taeniasis by serum immunoblot was 1.1%. Taenia solium Cysticercosis and T. solium Taeniasis antibodies were not detected in children. The sero-prevalence of T. solium Taeniasis was highest in the migrant farm worker community. Handwashing frequency was correlated with T. solium Taeniasis sero-positivity. CONCLUSION: The sero-prevalence of T. solium Cysticercosis and T. solium Taeniasis in this population, as detected by serum immunoblot, approximates the prevalence in some endemic areas of Latin America. Importantly, most patients likely had prior exposure, not active infection. This study establishes for the first time, the relative sero-prevalence of T. solium Cysticercosis and T. solium Taeniasis in at-risk populations in the United States.

Calcific neurocysticercosis and epileptogenesis.

Neurocysticercosis is responsible for increased rates of seizures and epilepsy in endemic regions. The most common form of the disease, chronic calcific neurocysticercosis, is the end result of the host's inflammatory response to the larval cysticercus of Taenia solium. There is increasing evidence indicating that calcific cysticercosis is not clinically inactive but a cause of seizures or focal symptoms in this population. Perilesional edema is at times also present around implicated calcified foci. A better understanding of the natural history, frequency, epidemiology, and pathophysiology of calcific cysticercosis and associated disease manifestations is needed to define its importance, treatment, and prevention.

[Juvenile myoclonic epilepsy in chromosome 6p12: clinical and genetic advances]. / Epilepsia mioclónica juvenil del cromosoma 6p12: avances clínicos y genéticos.

Amongst idiopathic generalized epilepsies, juvenile myoclonic epilepsy (JME) is the most common, accounting for 12% to 30% of all epilepsies in the Western world. Classic JME consists of awakening myoclonias, grand mal convulsions and EEG 4 to 6 Hz polyspike waves that appear in adolescence. Probands and affected family members do not have pyknoleptic 3Hz spike and wave absences. However, in 10 to 30% of patients, rare or spanioleptic polyspike wave absences appear. In 1988,1995,1996,we mapped classic JME to a 7 cM locus in chromosome 6p12 11, called EJM1, using families from Los Angeles and Belize. In 2001,we studied one large family from Belize and 21 new families from Los Angeles and Mexico Cities, aided by a BAC/PAC based physical map and 6 new dinucleotide repeats, to narrow EJM1 to an interval between D6S272 and D6S1573. In 2002, we found myoclonin, the putative gene for typical JME in 6p12. At the congress, we will reveal the identity of the myoclonin gene, its putative function and discuss the significance of this discovery in the JME population at large.

Epilepsia mioclónica juvenil en el cromosoma 6p12: avances clínicos y genéticos / Juvenile myoclonic epilepsy in chromosome 6p12: clinical and genetic advances

Entre las epilepsias generalizadas idiopáticas, la epilepsia mioclónica juvenil (EMJ) es la más frecuente y representa el 12-30 por ciento de todas las epilepsias del mundo occidental. La EMJ `clásica' consiste de mioclonía al despertar, crisis convulsivas de gran mal y electroencefalogramas (EEG) con polipunta-ondas de 4 a 6 Hz, que se presentan en la adolescencia. Los probandos y los miembros afectados de la familia no presentan ausencias punta-onda picnolépticas de 3 Hz. Sin embargo, el 10-30 por ciento de los pacientes presentan ausencias polipunta-onda escasas o raras. En 1988, 1995 y 1996 realizamos el mapeo genético de la EMJ `clásica' en un locus de 7 cM en el cromosoma 6p12-11, llamado EMJ1, mediante el empleo de familias de Los Ángeles y Belice. En 2001, estudiamos una familia numerosa de Belice y 21 familias nuevas de Los Ángeles y de Ciudad de México, con la ayuda de un mapa físico basado en recursos BAC/PAC y seis repeticiones dinucleotídicas, para reducir el cromosoma EMJ1 a un intervalo entre los marcadores D6S272 y D6S1573. En 2002, hallamos mioclonín, gen putativo de la EMJ típica en el cromosoma 6p12. En el congreso revelaremos la identidad del gen mioclonín, su función putativa y discutiremos la significación de este descubrimiento en la población con EMJ en general (AU)

Splenic small B-cell lymphoma with predominant red pulp involvement: a diffuse variant of splenic marginal zone lymphoma?

AIMS: Splenic marginal zone lymphoma (SMZL) has been characterized by a micronodular pattern of infiltration, biphasic cytology, follicular replacement and the presence of marginal zone differentiation. Here we describe four cases with some distinctive features, such as diffuse splenic infiltration, lack of micronodules, marginal zone cytology, p53 inactivation and cutaneous involvement. METHODS AND RESULTS: In the course of a review of cases of SMZL, we recognized the existence of a subset of four cases of splenic B-cell lymphoma, with predominantly red pulp involvement, absence of follicular replacement, and a monomorphous population of tumoral cells resembling marginal zone B-cells, with scattered nucleolated blast cells. The immunophenotype (bcl2+, CD5-, CD10-, CD43-, CD23-, cyclin D1-, IgD- (3/4)) was consistent with SMZL. Bone marrow infiltration (4/4) and peripheral blood involvement (2/4) showed similar findings to those described for SMZL in these locations. However, unlike classical SMZL, 2/4 had cutaneous involvement, and 4/4 cases showed either p53 mutation or anomalous p53 staining (p53+, p21-). CONCLUSIONS; In spite of a diffuse pattern of splenic infiltration, cutaneous involvement and p53 alterations, these cases have findings that overlap with those corresponding to classic SMZL (symptomatology, morphology of bone marrow, lymph nodes, peripheral blood involvement, and immunophenotype). We suggest that these cases be considered a putative variant of SMZL.

Nutritional status of children under 5 years of age in three hurricane-affected areas of Honduras.

Hurricanes and other natural disasters can produce crop destruction, population displacement, infrastructure damage, and long-term public health consequences that include increased malnutrition among the affected populations. This paper presents the results of anthropometric measurements taken of 295 children under 5 years of age from three regions of Honduras that were affected by Hurricane Mitch, a major storm that struck Central America in the fall of 1998. The children in our study were sampled in three shelters in the capital city of Tegucigalpa; in the resettlement zone of Nueva Choluteca, Choluteca; and in the small urban area of Catacamas, Olancho. Our data indicated that, in comparison to the period before the hurricane, there was an elevated prevalence of wasting in all three of the study areas, and that there were also high levels of underweight in the Tegucigalpa and Nueva Choluteca study areas. There were statistically significant differences between the mean values of malnutrition indicators for Catacamas and those for the Tegucigalpa and Nueva Choluteca settlements. These differences suggest that resettled families were confronting a nutritional crisis in July and August of 1999, some 9 months after the hurricane struck.

A population-based, case-control study of Taenia solium taeniasis and cysticercosis.

A two-phase study was conducted in a rural community in Honduras, to evaluate the association between neurocysticercosis (NCC) diagnosed by computed tomography (CT), epilepsy, seropositivity for antibodies to the cysticerci of Taenia solium [determined by enzyme-linked-immunoelectrotransfer-blot (EITB) assays], intestinal infection with this parasite, and various epidemiological factors. Of the 480 individuals studied in the first phase, 17% were seropositive and 2.5% supplied faecal samples which contained T. solium eggs. In the second phase, 148 individuals (74 of the seropositive subjects from the first phase and 74 matched controls from the seronegatives) underwent CT and neurological examinations. The CT results appeared normal in 110 (74%) of the 148, showed anatomical abnormality in seven (5%), and active or calcified lesions compatible with NCC in 31 (23% of the seropositives and 19% of the seronegatives). Only five of the latter had neurological symptoms (two being epileptics) and only five lived in households in which intestinal taeniasis had been detected. Subject age was significantly associated with NCC-compatible lesions but all the other factors investigated, including seropositivity, showed no significant association with the CT findings. The overall sensitivity of the EITB assays was found to be 55%. Taken together, the present results indicate that, even though it is a valuable tool in determining transmission levels in sero-epidemiological studies, the EITB assay should not be used to predict the existence of NCC or to estimate the prevalence of NCC. The results do provide further evidence that taeniasis and cysticercosis are widely prevalent in Honduras, and indicate that much larger studies of hyper-endemic communities may be necessary if the factors associated with the transmission of T. solium are to be elucidated.

Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy.

Among the 40 to 100 million persons with epilepsy worldwide and the 2 to 2.5 million persons with epilepsies in the United States, approximately 50% have generalized epilepsies. Among all epilepsies, the most common are juvenile myoclonus epilepsy (JME) with 10% to 30% of cases, childhood absence epilepsy (CAE) with 5% to 15% of cases, and pure grand mal on awakening with 22% to 37% of cases. In the last decade, six different chromosomal loci for common generalized epilepsies have been identified. These include two separate loci for JME in chromosomes 6p and 15q. The epilepsy locus in chromosome 6p expresses the phenotypes of classic JME, pure grand mal on awakening, and possibly JME mixed with absences. Two separate loci also are present for pyknoleptic CAE, namely, CAE that evolves to JME in chromosome 1p and CAE with grand mal in chromosome 8q24. Pandolfo et al. from the Italian League Against Epilepsy have reported two other putative susceptibility loci for idiopathic generalized epilepsies, namely, grand mal and generalized spike waves 35l in chromosome 3p and generalized epilepsies with febrile convulsions, grand mal, JME, absences, and electroencephalographic spike waves in 8q24. This chapter reports on the debate concerning whether there may be two separate epilepsy loci in chromosome 6p, one in the HLA region and one below HLA. The chapter then discusses the progress made in our laboratories as a result of the Genetic Epilepsy Studies (GENES) International Consortium. We discuss (a) the 2 to 6 cM critical region for classic JME located some 20 cM below HLA in chromosome 6p, (b) the 7-cM area for pyknoleptic CAE that evolves to JME in chromosome 1p, and (c) the 3.2 cM area for pyknoleptic CAE with grand mal and irregular 3 to 4 Hz spike waves in chromosome 8q24. We discusses efforts underway to refine the genetic map of JME in chromosome 6p11 and the advances in physical mapping and positioning of candidate genes, such as the gamma-aminobutyric acid receptor gene, the potassium channel gene of the long-QT family (KvLQT), named KCNQ3, and the human homologue of the mouse jerky gene for CAE in chromosome 8q24 and JME in chromosome 6p11.

Diagnosis of human neurocysticerocosis in endemic countries: a clinical study in Honduras.

With the purpose of evaluating the available methodology for neurocysticercosis (NCC) diagnosis, 60 neurological patients were studied during a 4-year period in Honduras. Neurological evaluation, Computed Tomography (CT), cysticercosis Enzyme-Linked Immunoelectrotransfer blot (EITB) assay, electroencephalographic studies, and collection of epidemiological information were performed to assess a final diagnosis. The presenting clinical manifestations were: epileptic seizures (52%), headache without intracranial pressure (27%) and intracranial hypertension (10%). A protocol for the diagnosis of NCC is suggested. According to this protocol, patients with active (live) cysticercus and/or antibodies in Cerebrospinal fluid (CSF) were diagnosed as definitive cases of NCC, whereas those with only brain calcifications were diagnosed as probable cases. NCC diagnosis was definitive in 14 (23%) patients, probable in 32 (54%) and ruled out in 14 (23%). Of the patients with epileptic seizures, six (19%) had definitive and 20 (65%) had probable NCC. Overall seropositivity was 28%. EITB positivity varied from 14 to 100%, and from 20 to 35% in definitive and probable cases of NCC, respectively. When compared to CT, EITB overall sensitivity for definitive, active cases, was 50% in serum and 63% in CSF. These results suggest that brain images combined with neurological evaluation remains the best approach for neurocysticercosis diagnosis, and that EITB, even though its variable sensitivity, offers valuable information, especially if performed in CSF.