Epilepsy and neurocysticercosis in Atahualpa: a door-to-door survey in rural coastal Ecuador

PURPOSE: To determine the prevalence of epilepsy and the role of neurocysticercosis in the occurrence of epilepsy in Atahualpa. METHODS: We used a door-to-door survey to detect subjects with epileptic seizures, to collect a blood sample for determination of anticysticercal antibodies, and to evaluate social characteristics of the population, including household pig ownership. Neurologists examined suspected cases and a sample of negative individuals. Then patients with epilepsy, as well as age- and sex-matched controls, underwent a head computed tomography (CT) and a scalp EEG. RESULTS: The questionnaire was answered by 2,415 of 2,548 residents of Atahualpa, and cysticercosis serology was performed in 1,687 consenting individuals. Cysticercosis seroprevalence was 145 (8.6%) per 1,686). Neurologic examination confirmed 24 patients with epilepsy (crude prevalence, 9.9 per 1,000 population, and 10.8 per 1,000 when adjusted to the United States population). After adjustment by age, sex, and pig raising, positive serology was strongly associated with epilepsy (odds ratio (OR), 4.16; 95% confidence interval (CI), 1.6-11.2). CT findings compatible with neurocysticercosis were found in five patients with epilepsy and also were more frequent than in controls, although this did not reach statistical significance (five of 19 vs. one of 19; p = 0.125, McNemar's test). Besides these five cases, three other patients with epilepsy had positive serology (one with a normal CT and two who did not have a CT). CONCLUSIONS: Neurocysticercosis is associated with one-third of cases of epilepsy in Atahualpa and may be a major contributory factor for the excess fraction of epilepsy seen in this population.     

Prefrontal cognitive functions in stabilized first-episode patients with schizophrenia spectrum disorders: a dissociation between dorsolateral and orbitofrontal functioning

Specific prefrontal cognitive impairments have been reported in first-episode and chronic schizophrenia. We sought to investigate potential impairments in specific prefrontal cortical cognitive functions among stabilized patients with a first-episode of schizophrenia. A sample of 80 individuals with a first-episode of schizophrenia spectrum disorders and 22 healthy volunteers underwent a neurocognitive battery assessing orbitofrontal (OFC) [The Iowa Gambling Task (GT)], and dorsolateral prefrontal (DLPFC) functions (WAIS III Backward digits, verbal fluency test (FAS), and Trail Making Test). Cognitive data were obtained following stabilization of acute psychotic symptoms. Clinical symptoms after six weeks of treatment were assessed by using the SAPS and SANS scales. While there were no significant group differences in overall scores and in the profile of progress of performance along periods on the GT, patient group showed a significant impairment when performing DLPFC tasks. Only FAS score was correlated to the severity of negative symptomatology. The OFC functions are unimpaired at the early phases of psychosis and in contrast there is a significant deficit in DLPFC functions in first-episode of schizophrenia.     

Neonatal lupus erythematosus: 4 cases and clinical review

Neonatal lupus erythematosus (NLE) is an infrequent disease in newborns caused by the transplacental passage of maternal Anti-Ro/SSA, Anti-La/SSB and/or Anti-U1 RNP antibodies. The most common manifestations are cutaneous and cardiac. We carried out a retrospective study of cases of NLE diagnosed in the last 10 years at the Hospital Universitario Insular in Gran Canaria. Complete data was obtained for 4 patients. Three cases had circulating Anti-Ro antibodies in the mother and in the newborns, while in the fourth case they were Anti-RNP. Two mothers were diagnosed with systemic lupus, one with mixed connective tissue disease and the other with leucocytoclastic vasculitis. The skin lesions consisted of urticaria-like and desquamative lesions. One patient presented with ulceration. The histological study of the urticaria-like lesions showed a non-specific perivascular infiltrate; the desquamative lesions were consistent with subacute lupus erythematosus.     

Kindler syndrome: presentation of a case

Kindler syndrome is a very rare disease caused by mutations resulting in defects in the extracellular matrix-actin link. It usually presents with acral blistering from birth in trauma-prone areas, pronounced photosensitivity that improves with age and the development of poikiloderma and cutaneous atrophy. Mucosal involvement and degeneration have been described with relative frequency.     

Subcutaneous sarcoidosis as the first manifestation of systemic disease

There are dermatological symptoms in up to 25% of patients with sarcoidosis, and the appearance of specific subcutaneous nodules as a manifestation of this entity is rare. They may even predate other manifestations of sarcoidosis. We present the case of a 38-year-old woman with asymptomatic subcutaneous nodules in the limbs, which corresponded to deep sarcoid granulomas in the histological study. She did not present with any extracutaneous indications. The imaging tests performed revealed right paratracheal adenopathies. This led to the diagnosis of sarcoidosis, in both its subcutaneous and pulmonary forms (stage I). Subcutaneous sarcoidosis is probably an underdiagnosed entity, as fewer than 40 cases are reflected in literature. Its value lies in the fact that it may be the first manifestation of extracutaneous or systemic sarcoidosis, which means that this form of sarcoidosis must be considered in the differential diagnosis of subcutaneous nodular lesions; close follow-up of these patients is also necessary.     

Mechanic's hands: a characteristic cutaneous sign of antisynthetase syndrome

"Mechanic's hands" are a characteristic cutaneous sign of idiopathic inflammatory myositis. We describe the case of a 61-year-old male patient who was diagnosed with idiopathic polymyositis and non-specific interstitial lung disease in 1999, and three years later developed scaly, fissured hyperkeratotic lesions on the lateral and palmar surfaces of the first three fingers of both hands, with little pruritus. The presence of the anti-Jo-1 antisynthetase antibody in the patient's serum, the finding of skin lesions characteristic of "mechanic's hands" and the patient's other systemic clinical manifestations made it possible to establish the diagnosis of "antisynthetase syndrome."     

Ependymal denudation and alterations of the subventricular zone occur in human fetuses with a moderate communicating hydrocephalus

In mutant rodents, ependymal denudation occurs early in fetal life, preceding the onset of a communicating hydrocephalus, and is a key event in the etiology of this disease. The present investigation was designed to obtain evidence whether or not ependymal denudation occurs in 16- to 40-week-old human fetuses developing a communicating hydrocephalus (n = 8) as compared to fetuses of similar ages with no neuropathologic alterations (n = 15). Sections through the walls of the cerebral aqueduct and lateral ventricles were processed for lectin binding and immunocytochemistry using antibodies against ependyma, astroglia, neuroblasts, and macrophages markers. Anticaveolin was used as a functional marker of the fetal ependyma. The structural and functional molecular markers are differentially expressed throughout the differentiation of the human fetal ependyma. Denudation of the ependyma of the aqueduct and lateral ventricles occurred in all fetuses developing a communicating hydrocephalus, including the youngest ones studied. The denuded surface area increased in parallel with the fetus age. The possibility is advanced that in many or most cases of human fetal hydrocephalus there is a common defect at the ependymal cell lineage leading to ependymal detachment. Evidence was obtained that in hydrocephalic human fetuses a process to repair the denuded areas takes place during the fetal life. In hydrocephalic fetuses, detachment of the ependyma of the lateral ventricles resulted in the (i) loss of the germinal ependymal zone, (ii) disorganization of the subventricular zone and, (iii) abnormal migration of neuroblasts into the ventricular cavity. Thus, detachment of the ependymal layer in hydrocephalic fetuses would not only be associated with the pathogenesis of hydrocephalus but also to abnormal neurogenesis.     

Abnormal group I metabotropic glutamate receptor expression and signaling in the frontal cortex in Pick disease

Group I metabotropic glutamate receptors (mGluR1) regulate synaptic transmission through the stimulation of phospholipase Cbeta1 (PLCbeta1) and then by the activation of protein kinase C (PKC). Considering these properties, it is conceivable that major cortical functional deficits may be attributed to abnormal mGluR processing and signaling. The present work examines mGluRI expression and signaling in the frontal cortex (area 8) of 3 cases with Pick disease (PiD), a neurodegenerative disease with abnormal phospho-tau accumulation, in comparison with 3 age-matched controls by means of glutamate binding assays, enzymatic activity, gel electrophoresis and Western blotting, solubility and immunoprecipitation assays, and confocal microscopy. Reduced expression levels of PLCbeta1 and reduced PLCbeta1 activity have been found in PiD. The expression levels of the nonrelated phospholipase PLCgamma, a substrate of tyrosine kinase, are also reduced in PiD. This is accompanied by a marked decrease in the expression of cPKCalpha and increased expression of the inner band (76 kDa) of the nPKCdelta doublet at the expense of a decrease of the phosphorylated (active) form (78 kDa). In contrast, L-[3H]glutamate-specific binding to mGluRs is augmented in PiD cases, mainly because of the higher mGluR1 and mGluRs expression levels detected. No modifications in PLCbeta1 solubility have been observed in PiD and no interactions between PLCbeta1 and tau have been demonstrated in diseased and control cases. Moreover, double-labeling immunofluorescence and confocal microscopy have shown no colocalization of phospho-tau (AT8 antibody) and PLCbeta1 in phospho-tau inclusions, including Pick bodies. These results demontrate for the first time abnormal mGluR signaling in the cerebral cortex in PiD and selective vulnerability of phospholipases and PKC to PiD.