Panayiotopoulos syndrome: a prospective study of 192 patients

OBJECTIVES: To characterize the electroclinical features and evolution of Panayiotopoulos Syndrome (PS). METHODS: Children with electroclinical criteria of PS were prospectively identified and followed-up clinically, and with sleep and awake EEGs between February 1990 and 2006. RESULTS: We identified 192 patients with PS. In the same length of time 398 children with benign childhood epilepsy with centro-temporal spikes (BCECTS) were registered. PS had a peak age at onset of 5 years. Autonomic manifestations were one of the most common ictal event. Ictal deviation of the eyes and progression to generalized convulsions were also quite frequent. Approximately one third had partial status epilepticus. In all patients except five, the seizures occurred during sleep. One-third also had fits while awake. Sixteen children had concomitant symptoms of rolandic epilepsy and eight developed rolandic seizures after remission of PS seizures. Prognosis was excellent. Eighty-four (44.2%) had a single seizure, 79 (41.2%) had 2-5 fits, and 28 (14.6%) had frequent seizures. CONCLUSION: PS is less common than BCECTS, but is well defined and easily recognizable by clinical and EEG features, with autonomic manifestations as one of the most common ictal event.     

Myoclonic status in nonprogressive encephalopathies: study of 29 cases

PURPOSE: Myoclonic status in nonprogressive encephalopaties (MSNE) is characterized by recurrence of long-lasting myoclonic status appearing in infants and young children with nonprogressive encephalopathy. Here, we describe the electroclinical features and evolution of MSNE. METHODS: Between February 1, 1990 and July 31, 2005, 29 patients who met diagnostic criteria of MSNE were enrolled in the study at our department and have been followed up to the present time. RESULTS: Three main subgroups could be identified. The first subgroup of 18 patients presented myoclonic absences and rhythmic myoclonias. These were followed by a brief silent period related to a subcontinuous delta-theta activity involving the central areas, and rhythmic delta waves with superimposed spikes mainly involving the parietooccipital regions and often activated by eye closure. It was found in all children with a genetic etiology. The second subgroup included five patients showing a pattern characterized by inhibitory phenomena associated with a dystonic component and sudden irregular rapid lightning-like jerks. The EEG showed subcontinuous multifocal slow spike-waves, predominating in frontocentral regions. These patients are affected by a cortical malformation or the etiology is unknown. The third subgroup included six children who initially suffered from myoclonic absences. The status was initially characterized by subcontinuous generalized spike-wave-type paroxysms related to rhythmic myoclonia of face and limbs. After 1-3 weeks, the EEG showed sharp theta waves with very slow pseudorhythmic continuous spikes in the central regions and vertex. The etiology was found to be perinatal anoxic injury. CONCLUSION: MSNE should be considered as a new epileptic syndrome in the group of epileptic encephalopathy.     

The role of the silicatein-α interactor silintaphin-1 in biomimetic biomineralization

Biosilicification in sponges is initiated by formation of proteinaceous filaments, predominantly consisting of silicateins. Silicateins enzymatically catalyze condensation of silica nanospheres, resulting in symmetric skeletal elements (spicules). In order to create tailored biosilica structures in biomimetic approaches it is mandatory to elucidate proteins that are fundamental for the assembly of filaments. Silintaphin-1 is a core component of modularized filaments and also part of a spicule-enfolding layer. It bears no resemblance to other proteins, except for the presence of an interaction domain that is fundamental for its function as scaffold/template. In the presence of silicatein silintaphin-1 facilitates the formation of in vitro filaments. Also, it directs the assembly of γ-Fe₂O₃ nanoparticles and surface-immobilized silicatein to rod-like biocomposites, synthetic spicules. Thus, silintaphin-1 will contribute to biomimetic approaches that pursue a controlled formation of patterned biosilica-based materials. Its combination with γ-Fe₂O₃ nanoparticles and immobilized silicatein will furthermore inspire future biomedical applications and clinical diagnostics.     

Unilateral closed-lip schizencephaly and epilepsy: a comparison with cases of unilateral polymicrogyria

We compared the electroclinical features and evolution of patients with two different types of abnormal cortical organization: unilateral closed-lip schizencephaly (SCHZ) and unilateral polymicrogyria (PMG). Between February 1990 and June 2002, 51 children with either unilateral PMG or closed-lip SCHZ were selected through neuroradiological analysis for investigation at our service. We evaluated the frequency of epilepsy, electroclinical features and evolution. The mean time of follow-up was 7 years (range 1-12 years). All patients underwent neurological examination, computed tomography scan and magnetic resonance imaging, serial electroencephalographic (EEG) recordings and neuropsychological assessment. Thirty-six of the 51 patients had unilateral PMG. All patients had hemiparesis with mild spasticity. Mental retardation was mild in 20 and moderate in 14. In two patients IQ was normal. Partial motor seizures were recorded in 28 patients, with secondary generalization in 20. The median age at onset of seizures was 2 years (range 4 months-7 years). Interictal EEGs showed unilateral spikes in all patients. In 21 patients epilepsy worsened between the ages of 4 and 8 (mean 5.6 years) with frequent atonic seizures, atypical absences, epileptic negative myoclonus and gait difficulties. EEGs showed continuous spike-wave activity or bilateral high-frequency spike discharges during slow-wave sleep. Frequent relapses of atonic and myoclonic seizures were seen in nine patients. At present, 16 patients are seizure-free. Fifteen patients with unilateral SCHZ were included in the study. Focal motor seizures were registered in seven cases, in three of them with secondary generalization. The median age at onset of epilepsy was 2.5 years (range 1-4 years). Interictal EEGs showed unilateral spikes in these seven cases. All patients except one presented mild spastic hemiparesis. Mental retardation was mild in ten children, moderate in two and IQ was normal in three. Although the underlying mechanisms leading to PMG and SCHZ are probably similar, the electroclinical phenomenon of secondary bilateral synchrony with frequent negative myoclonus was not present in our cases with unilateral closed-lip SCHZ.     

Modern or post-modern? Local or non-local? A response to Leick

Most debates in science and the humanities that cannot be settled are not about truth, nor about data, but about beliefs and world views. Philippe Leick's comment on entanglement models of homeopathy are a good example. Because of this, no argument, however, convincing to some, will settle that debate. The only thing that can resolve it is a large cultural shift. My own ideas about non-local models, for a whole category of possibly similar events of which homeopathy is but one example.     

Behavior of cryopreserved endothelial cells in different phases: Their application in the seeding of vascular prostheses

Various methods of cryopreservation of human endothelial cells (EC) were studied to determine their viability and behavior when seeded onto vascular prostheses made of polytetrafluoroethylene (PTFE). Three different protocols were used: (1) cyropreservation of whole umbilical vein, (2) cyropreservation of freshly extracted umbilical EC in suspension, and (3) cryopreservation of EC derived from a first subculture. Fresh EC and EC from a first subculture were used as controls. The viability and growth of these cells in culture media were studied, and basal prostacyclin levels were determined. The cells were assessed morphologically after they were seeded onto PTFE discs. Our results showed that the cryopreservation method that maintained the greatest viability was that in which previously cultured EC were used. Basal prostacyclin levels were significantly different following cyropreservation. However, when these cells were seeded onto PTFE discs their behavior was similar to that of fresh EC.We thank W. L. Gore & Associates for supplying the prostheses used in this study.Supported by a grant from the Comision Interministerial de Cieucia y Tecnologia SAF 92/0875.     

AIPL1突变患者先天性Leber黑蒙表现型

目的：叙述26例先证者中芳香族羟基碳氢化合物受体蛋白样1蛋白质（AIPL1）突变的先天性Leber黑蒙（LCA）的表现型，并比较其他LCA相关性基因的表现型。叙述杂合子携带者的视网膜电图（ERG）。     

Predictive capacity, comparison and clinic consequences of the Framingham-Wilson and REGICOR tables in persons for whom care has been provided at a health care center, Badajoz, Spain

BACKGROUND: Framingham's original equation modified by Wilson and the REGICOR calibration are widely recommended in coronary risk stratification. This study is aimed at: (1) Analyzing the ten-year predictiveness of the Framingham-Wilson and REGICOR tables among a population for which care has been provided at an urban health care center (2) Evaluating the concordance use of hypolipemiant and antihypertensive drugs resulting from these tables. METHODS: Observational, longitudinal, retrospective study of a cohort of patients for whom care was provided at a primary care center. A total of 1011 patients ages 35-74 (mean age 55.7, 56.0% females) without any evidence of cardiovascular disease. Those patients having a > or =20% risk in Wilson and > or =10% in REGICOR were considered high-risk. RESULTS: The actual coronary risk of the population was 10.7%, whilst the mean coronary risk estimated with the functions was 17.0% in Wilson and 6.6% in REGICOR. A total 29.6% was classified high-risk in Wilson as compared to the 18.2% in RECIGOR (p < 0.05). The percentage of high-risk males was significantly higher in Wilson than in REGICOR (49.0% vs. 29.4%, p < 0.01). The Kappa index was 0.70 (95 CI: 0.67, 0.73). A total of 39.5% of the patients (as per Wilson) and 31.4% (as per REGICOR) were candidates for taking hypolipemiant drugs (p < 0.001). The validity criteria of both of these functions are quite discreet: sensitivity, specificity and odds ratio diagnosed at 50.9%, 73.1% and 2.11 in Wilson and 28.7%, 83.1% and 1.98 in REGICOR, respectively. CONCLUSIONS: The Wilson and REGICOR tables show an acceptable degree of concordance, but their validity parameters are discreet. The Framingham-Wilson function screens a higher percentage of patients as being candidates for hypolipemiant drugs.     

Fruit, vegetables and prevention of cognitive decline or dementia: A systematic review of cohort studies

Background: Regular consumption of fruit and vegetables has been considered to be associated with a reduced risk of dementia and age-associated cognitive decline, although the association is currently unsupported by a systematic review of the literature. Methods: We searched Medline, Embase, Biosis, ALOIS, the Cochrane library, different publisher databases as well as bibliographies of retrieved articles. All cohort studies with a follow-up of 6 months or longer were included if they reported an association of Alzheimer's disease or cognitive decline in regard to the frequency of fruit and vegetables consumption. Findings: Nine studies with a total of 44 004 participants met the inclusion criteria. Six studies analyzed fruit and vegetables separately and five of them found that higher consumption of vegetables, but not fruit is associated with a decreased risk of dementia or cognitive decline. The same association was found by three further studies for fruit and vegetable consumption analytically combined. Conclusion: Increased intake of vegetables is associated with a lower risk of dementia and slower rates of cognitive decline in older age. Yet, evidence that this association is also valid for high fruit consumption is lacking.     

Artisanal Spearfishery in Temperate Nearshore Ecosystems of Chile: Exploring the Catch Composition,Revenue, and Management Needs

We used extensive field data on catch and effort as well as fisher interviews to characterize the catch composition and revenue associated with the unregulated artisanal spearfishery in Chile (18–33°S). Sampling was performed on commercial spearfishing trips (snorkel and hookah diving gear) between spring 2010 and summer 2011. Two-way crossed ANOVA showed significant effects of region (latitude) and dive gear on fishery variables such as biomass CPUE (CPUE_b), numeric CPUE (CPUE_n), catch species richness, fishing depth, cost, and income. Catches included 22 fish species from 15 families. Among the 23 species, 17 were associated with temperate rocky reef habitats: 14 carnivorous species, 2 omnivorous species, and 1 herbivorous species. Our results indicated that smaller, less-valuable rocky reef fishes (e.g., Peruvian Morwong Cheilodactylus variegatus, Chilean Sandperch Pinguipes chilensis, and Peruvian Rock Seabass Paralabrax humeralis) supported higher CPUE_b and CPUE_n than large, high-value, emblematic rocky reef species (e.g., Vieja Graus nigra, Galapagos Sheephead Wrasse Semicossyphus darwini, and Acha Medialuna ancietae). The CPUE_b was significantly higher for hookah fishers than for snorkel fishers. Our results revealed that artisanal spearfishing activities provide important revenue for the fishers (2–3 times the minimum monthly wage in Chile), thereby incentivizing a rapid expansion of this unregulated fishery. Management options based on territorial user rights and catch and size restrictions are discussed in light of these findings.

Received December 19, 2013; accepted March 29, 2016