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Actinomycosis is an uncommon disease, and abdominal wall actinomycosis is rare. It is caused by Actinomyces israeli, a filamentous, gram-positive, anaerobic bacteria that lives in our organism and when the infection progresses, granulomatous tissue, extensive reactive fibrosis and necrosis, abscesses are formed. Infection involving the cervicofacial area is most common. We report a case of abdominal wall actinomycosis diagnosed postoperativerly with preoperative suspected tumor process, so we want to make special mention in the differential diagnosis of actinomycetoma with an abdominal mass. [ABSTRACT FROM AUTHOR]

Limb sparing surgery is a desirable goal in the treatment of lower limb sarcoma. Amputation rates in the treatment of this kind of tumours have showed a dramatically reduction. The combination of limb sparing surgery and radiotherapy achieve the same oncological results with the advantages of extremity and function preservation. Despite this fact there are still indications of limb amputation as mass involvements of the major neurovascular structures of the limb, among others. In those cases, fillet flaps may be used to preserve additional length or cover vital structures. We report a case of a patient with high-grade fusocellular sarcoma where the use of a free plantar fillet flap allows us to preserve the knee-joint. [ABSTRACT FROM AUTHOR]

DeGiorgio C, Pietsch-Escueta S, Tsang V, Corral-Leyva G, Ng L, Medina MT, Astudillo S, Padilla N, Leyva P, Martinez L, Noh J, Levine M, del Villasenor R, Sorvillo F. Sero-prevalence ofTaenia soliumCysticercosis andTaenia soliumTaeniasis in California, USA.Acta Neurol Scand 2005: 111: 84–88.© Blackwell Munksgaard 2005.Taenia soliumCysticercosis 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. soliumTaeniasis. The prevalence of eitherT. soliumCysticercosis orT. soliumTaeniasis 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 ofT. soliumCysticercosis andT. soliumTaeniasis in an at-risk community in the USA, specifically rural Southern California; identifyT. soliumTaeniasis positive individuals, and treat positive individuals for the tapewormT. soliumTaeniasis.Community based sero-prevalence study of antibodies toT. soliumCysticercosis andT. soliumTaeniasis 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 bothT. soliumCysticercosis andT. soliumTaeniasis were performed.The sero-prevalence ofT. soliumCysticercosis was 1.8% and the sero-prevalence ofT. soliumTaeniasis by serum immunoblot was 1.1%.Taenia soliumCysticercosis andT. soliumTaeniasis antibodies were not detected in children. The sero-prevalence ofT. soliumTaeniasis was highest in the migrant farm worker community. Handwashing frequency was correlated withT. soliumTaeniasis sero-positivity.The sero-prevalence ofT. soliumCysticercosis andT. soliumTaeniasis 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 ofT. soliumCysticercosis andT. soliumTaeniasis in at-risk populations in the United States. [ABSTRACT FROM AUTHOR]

Background: In juvenile myoclonic epilepsy, data are limited on the genetic basis of networks promoting convulsions with diffuse polyspikes on electroencephalography (EEG) and the subtle microscopic brain dysplasia called microdysgenesis.Methods: Using Sanger sequencing, we sequenced the exomes of six members of a large family affected with juvenile myoclonic epilepsy and confirmed cosegregation in all 37 family members. We screened an additional 310 patients with this disorder for variants on DNA melting-curve analysis and targeted real-time DNA sequencing of the gene encoding intestinal-cell kinase ( ICK). We calculated Bayesian logarithm of the odds (LOD) scores for cosegregating variants, odds ratios in case-control associations, and allele frequencies in the Genome Aggregation Database. We performed functional tests of the effects of variants on mitosis, apoptosis, and radial neuroblast migration in vitro and conducted video-EEG studies in mice lacking a copy of Ick.Results: A variant, K305T (c.914A→C), cosegregated with epilepsy or polyspikes on EEG in 12 members of the family affected with juvenile myoclonic epilepsy. We identified 21 pathogenic ICK variants in 22 of 310 additional patients (7%). Four strongly linked variants (K220E, K305T, A615T, and R632X) impaired mitosis, cell-cycle exit, and radial neuroblast migration while promoting apoptosis. Tonic-clonic convulsions and polyspikes on EEG resembling seizures in human juvenile myoclonic epilepsy occurred more often in knockout heterozygous mice than in wild-type mice (P=0.02) during light sleep with isoflurane anesthesia.Conclusions: Our data provide evidence that heterozygous variants in ICK caused juvenile myoclonic epilepsy in 7% of the patients included in our analysis. Variant ICK affects cell processes that help explain microdysgenesis and polyspike networks observed on EEG in juvenile myoclonic epilepsy. (Funded by the National Institutes of Health and others.). [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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.

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.

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.

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.

Childhood absence epilepsy (CAE), a common form of idiopathic generalized epilepsy, accounts for 5%-15% of childhood epilepsies. To map the chromosomal locus of persisting CAE, we studied the clinical and electroencephalographic traits of 78 members of a five-generation family from Bombay, India. The model-free affected-pedigree member method was used during initial screening with chromosome 6p, 8q, and 1p microsatellites, and only individuals with absence seizures and/or electroencephalogram 3-4-Hz spike- and multispike-slow wave complexes were considered to be affected. Significant P values of .00000-.02 for several markers on 8q were obtained. Two-point linkage analysis, assuming autosomal dominant inheritance with 50% penetrance, yielded a maximum LOD score (Zmax) of 3.6 for D8S502. No other locus in the genome achieved a significant Zmax. For five smaller multiplex families, summed Zmax was 2.4 for D8S537 and 1.7 for D8S1761. Haplotypes composed of the same 8q24 microsatellites segregated with affected members of the large family from India and with all five smaller families. Recombinations positioned the CAE gene in a 3.2-cM interval.

Juvenile myoclonic epilepsy is a common type of idiopathic generalized epilepsy characterized by myoclonic, generalized tonic-clonic, and in 30% of patients, absence seizures. We studied a three-generation pedigree of 33 members, 10 of whom were clinically affected with juvenile myoclonic epilepsy or presented with subclinical electroencephalographic (EEG) 3.5- to 6.0-Hz diffuse polyspike-wave or spike-wave complexes. Juvenile myoclonic epilepsy and the EEG trait segregated as an autosomal dominant trait with 70% penetrance. Linkage analysis using this model showed significant linkage to four microsatellite markers centromeric to human leukocyte antigen (HLA) in chromosome 6p. Maximum lod scores of 3.43 at theta(m=f)=0.00 for D6S272, D6S466, D6S257, and D6S402 were obtained. Recombinant events in 2 affected members defined the gene region to a 43-cM interval flanked by D6S258 (HLA region) and D6S313 (centromere). Our results in this large family provide evidence that a gene responsible for juvenile myoclonic epilepsy and the subclinical, 3.5- to 6.0-Hz, polyspike-wave or spike-wave EEG pattern is located in chromosome 6p.

Despite affecting 4 million Americans and 100-200 million persons worldwide, the precise molecular mechanisms of human epilepsies remain unknown. Juvenile myoclonic epilepsy (JME) is the most frequent and, hence, most important form of hereditary grand mal epilepsy. In this epilepsy, electroencephalographic (EEG) 15-30-Hz multispikes produce myoclonic and tonic-clonic convulsions beginning at 8-20 years of age. Moreover, EEG 3.5-6-Hz multispike wave complexes appear in clinically asymptomatic family members. We first studied 38 members of a four-generation LA-Belize family with classical JME but with no pyknoleptic absences. Five living members had JME; four clinically asymptomatic members had EEG multispike wave complexes. Pairwise analysis tightly linked microsatellites centromeric to HLA, namely D6S272 (peak lod score [Zmax] = 3.564-3.560 at male-female recombination [theta m = f] = 0-.001) and D6S257 (Zmax = 3.672-3.6667 at theta m = f = 0-.001), spanning 7 cM, to convulsive seizures and EEG multispike wave complexes. A recombination between D6S276 and D6S273 in one affected member placed the JME locus within or below HLA. Pairwise, multipoint, and recombination analyses in this large family independently proved that a JME gene is located in chromosome 6p, centromeric to HLA. We next screened, with the same chromosome 6p21.2-p11 short tandem-repeat polymorphic markers, seven multiplex pedigrees with classic JME. When lod scores for small multiplex families are added to lod scores of the LA-Belize pedigree, Zmax values for D6S294 and D6S257 are > 7 (theta m = f = .000). Our results prove that in chromosome 6p21.2-p11 an epilepsy locus exists whose phenotype consists of classic JME with convulsions and/or EEG rapid multispike wave complexes.

The chromosomal loci for seven epilepsy genes have been identified in chromosomes 1q, 6p, 8q, 16p, 20q, 21q, and 22q. In 1987, the first epilepsy locus was mapped in a common benign idiopathic generalized epilepsy syndrome, juvenile myoclonic epilepsy (JME). Properdin factor or Bf, human leukocyte antigen (HLA), and DNA markers in the HLA-DQ region were genetically linked to JME and the locus, named EJM1, was assigned to the short arm of chromosome 6. Our latest studies, as well as those by Whitehouse et al., show that not all families with JME have their genetic locus in chromosome 6p, and that childhood absence epilepsy does not map to the same EJM1 locus. Recent results, therefore, favor genetic heterogeneity for JME and for the common idiopathic generalized epilepsies. Heterogeneity also exists in benign familial neonatal convulsions, a rare form of idiopathic generalized epilepsy. Two loci are now recognized; one in chromosome 20q (EBN1) and another in chromosome 8q. Heterogeneity also exists for the broad group of debilitating and often fatal progressive myoclonus epilepsies (PME). The gene locus (EPM1) for both the Baltic and Mediterranean types of PME or Unverricht-Lundborg disease is the same and is located in the long arm of chromosome 21. Lafora type of PME does not map to the same EPM1 locus in chromosome 21. PME can be caused by the juvenile type of Gaucher's disease, which maps to chromosome 1q, by the juvenile type of neuronal ceroid lipofuscinoses (CLN3), which maps to chromosome 16p, and by the "cherry-red-spot-myoclonus" syndrome of Guazzi or sialidosis type I, which has been localized to chromosome 10. A point mutation in the mitochondrial tRNA(Lys) coding gene can also cause PME in children and adults (MERFF).

Epilepsy secondary to active or inactive neurocysticercosis (NCC) is a major public health problem in Latin American countries. In an open-label pilot trial, we evaluated and followed (mean = 13 months) 16 patients with epilepsy resulting from active NCC which was treated with anticisticercal (ACC) drugs. These patients were aged 12-68 years with confirmed active NCC and seizures not controlled by adequate antiepileptic drug (AED) therapy. Patients were treated with albendazole or praziquantel (ALB and PZQ, ACC drugs) and AED monotherapy. The number of NCC cysts was markedly reduced by ACC therapy. Thirteen patients remained seizure-free and 2 had only one seizure during follow-up. Our data suggest a positive effect of ACC treatment on the prognosis of epilepsy caused by active NCC, but a prospective, double-blind, controlled study with long-term follow-up must be performed to determine whether ACC therapy improves long-term seizure control.

We report a girl 3 years and 6 months old with onset of aphasia at age 3 years and 3 months. There was no evidence of brain damage and there were no seizures. The neuropsychological evaluation showed that the girl tended to be right-handed, that aphasia was global and that other higher cortical functions seemed to be preserved. Isolated spikes and spikes-and-wave were recorded during wake over the right temporal region with rare independent contralateral abnormalities. During polysomnography (PSG), the physiological patterns of sleep were preserved and right temporal epileptiform discharges were significantly increased in all sleep stages. Maximal activation was obtained at sleep onset and during rapid eye movement (REM) sleep periods, when focal abnormalities became continuous and spread contralaterally. Repeat PSGs showed that the activation profile retained this particular trait, although subclinical discharges tended to increase during slow wave sleep (SWS). This pattern of subclinical temporal status epilepticus during REM sleep differs from the characteristic activation profile found in the syndrome of continuous spikes-and-waves during SWS. However, this profile was transient and all epileptiform changes disappeared during clinical recovery at 18 months of follow-up.