Random quasi-phase-matched second-harmonic generation in periodically poled lithium tantalate.

We observe second harmonic generation via random quasi-phase-matching in a 2.0 mum periodically poled, 1-cm-long, z-cut lithium tantalate. Away from resonance, the harmonic output profiles exhibit a characteristic pattern stemming from a stochastic domain distribution and a quadratic growth with the fundamental excitation, as well as a broadband spectral response. The results are in good agreement with a simple model and numerical simulations in the undepleted regime, assuming an anisotropic spread of the random nonlinear component.

[Occurrence of Giardia cysts and Cryptosporidium oocysts in swimming pools in the province of Palermo, Italy]. / Presenza di cisti di Giardia e oocisti di Cryptosporidium in piscine della provincia di Palermo.

21 samples of waters of 7 swimming pools in the province of Palermo were investigated for the presence of Giardia cysts and Cryptosporidium oocysts. Some chemio-physical parameters (chlorine, temperature, turbidity and pH) were also evaluated as well as the presence of bacterial indicators of faecal (total coliforms, Escherichia coli and enterococci), mucocutaneous and environmental (Staphylococcus aureus and Pseudomonas aeruginosa) contamination. All samples were negative for bacterial indicators of faecal contamination; 3 were positive for the presence of coagulase-negative staphylococci, 1 was positive for Alcaligenes spp. and 2 for Pseudomonas aeruginosa. 8 samples proved to be positive for Giardia and 6 also for Cryptosporidium. All but one of them were coming from waters of 2 swimming pools of the same recreational center. In all samples the concentration of Giardia was substantially higher than that of Cryptosporidium. This study shows that the disinfection and filtering plants are not always suitable to ensure a good level of the quality of the waters of swimming pools and suggests that should be necessary to check them also for the presence of protozoa like Giardia and Cryptosporidium, which may be responsible for gastroenteritis.

[Development of a technique for recovering Giardia cysts and Cryptosporidium oocysts from fresh vegetables]. / Descrizione di una tecnica per la ricerca di cisti di Giardia e di oocisti di Cryptosporidium in vegetali freschi contaminati sperimentalmente.

Techniques described for recovering Giardia and Cryptosporidium (oo)cysts from fruit and vegetables are generally inadequate and present variable recovery efficience and elevated costs. The aim of our study was to evaluate the recovery efficiency of a simple and economic technique to apply either to berry vegetables, like tomatoes and peppers, or to large leave vegetables, like lettuce and chicory. The method include contamination and further elution of the vegetables. Then sedimentation of (oo)cysts by centrifugation of the eluate of vegetables and their visualization by means of direct immunofluorescence. The higher recovery values for both protozoa were obtained in large leave vegetables with mean data above 70% for Giardia and 76% for Cryptosporidium, whereas the values observed in the berry vegetables were above 43% for Giardia and above 37% for Cryptosporidium on average.

[Occurrence of Giardia and Cryptosporidium in wastewater, surface water and ground water samples in Palermo (Sicily)]. / Presenza di Giardia e Cryptosporidium in reflui civili e in campioni d'acqua superficiale e profonda del territorio palermitano.

This paper reports the investigation carried out on the occurrence of Cryptosporidium and Giardia (oo)cysts in water samples of two municipal treatment plants, and in surface water and ground water wells of the province of Palermo. The wastewater samples taken before and after treatment process were assayed over the course of one year Giardia cysts were detected in all samples throught the year at higher concentration levels than Cryptosporidium oocysts, with a peak observed in spring. The overall removal efficiency of (oo)cysts in the treatment plants was about of 90%. Their presence were also searched in surface waters (three artificial lakes and one river); (oo)cysts were detected in one lake at very low concentration; on the contrary, both parasites were found at high concentration levels in all the samples collected throught one year from the water of the river. The pattern of occurrence of both parasites appears temporally related to the level of rainfall trend. Cryptosporidium and Giardia were also found in ground water wells; their presence occurred only in waters taken from wells at a depth lower than 31 meters with concomitant presence of faecal bacteria. These results may provide further insight into the possible source of Cryptosporidium and Giardia in natural environmental and stress the potential risk associated with the use of waters for recreational and agricultural purposes.

Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly.

A large three-generation family with autosomal dominant type 1 porencephaly from southern Italy was studied. A high rate of miscarriages was observed. Of the nine affected individuals, four displayed a severe phenotype, and five had slight pyramidal signs or mild cognitive abnormalities. The MRI study disclosed unilateral porencephalic cyst, or colpocephaly. A genome-wide screen resulted in suggestive evidence for linkage to chromosome 13qter with a maximum logarithm-of-the-odds score of 3.16, from multipoint analysis, with marker D13S285.

Coronary stenting versus coronary bypass surgery in patients with multiple vessel disease and significant proximal LAD stenosis: results from the ERACI II study.

PURPOSE: To compare percutaneous coronary intervention (PCI) using stent implantation versus coronary artery bypass graft (CABG) in patients with multiple vessel disease with involvement of the proximal left anterior descending coronary artery (LAD). METHODS: 230 patients with multiple vessel disease and severe stenosis of the proximal LAD (113 with PCI, 117 with CABG). They were a cohort of patients from the randomised ERACI (Argentine randomized trial of percutaneous transluminal coronary angioplasty versus coronary artery bypass surgery in multivessel disease) II study. RESULTS: Both groups had similar baseline characteristics. There were no significant differences in 30 day major adverse cardiac events (death, myocardial infarction, stroke, and repeat procedures) between the strategies (PCI 2.7% v CABG 7.6%, p = 0.18). There were no significant differences in survival (PCI 96.4% v CABG 95%, p = 0.98) and survival with freedom from myocardial infarction (PCI 92% v CABG 89%, p = 0.94) at 41.5 (6) months' follow up. However, freedom from new revascularisation procedures (CABG 96.6% v PCI 73%, p = 0.0002) and frequency of angina (CABG 9.4% v PCI 22%, p = 0.025) were superior in the CABG group. CONCLUSION: Patients with multivessel disease and significant disease of the proximal LAD randomly assigned in the ERACI II trial to PCI or CABG had similar survival and survival with freedom from myocardial infarction at long term follow up. Repeat revascularisation procedures were higher in the PCI group.

Silent celiac disease in patients with childhood localization-related epilepsies.

PURPOSE: To evaluate how many patients with a clinical picture of idiopathic childhood localization-related epilepsies may also have silent celiac disease (CD). This will help determine whether investigation for CD should be restricted to those patients with childhood partial epilepsy with occipital paroxysms (CPEO) or should be extended to all patients with childhood partial epilepsy (CPE) regardless of seizure type and electroencephalographic (EEG) paroxysms. METHODS: The study group consisted of 72 patients (31 girls and 41 boys; mean age, 12.6 +/- 4.28 years; age at onset, 6.4 +/- 3.7 years) who were observed consecutively over a 5-year period and who received an initial diagnosis of idiopathic CPE. A diagnosis of CD was confirmed by using enzyme-linked immunosorbent assay (ELISA) to assess the presence of antigliadin antibodies and the immunofluorescent undirected test to assess the presence of antiendomysium antibodies. RESULTS: Twenty-five patients had CPEO, whereas the remaining 47 had CPE with centrotemporal spikes (CPEC). None of the patients with CPEC had positive antibody tests. Of the 25 patients with CPEO, two (8%) had antiendomysium immunoglobulin (Ig) A antibodies. In both of these patients, the jejunal biopsy showed atrophy of the villi and hyperplasia of the crypts, consistent with a diagnosis of CD. Brain computed tomography (CT) was normal in one of these patients and revealed occipital corticosubcortical calcifications in the other. CONCLUSIONS: Our study indicates that CD screening should be performed routinely only in patients with CPEO.

A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings.

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary syndrome caused by mutations of the Notch3 gene, usually localized to exons 3 and 4. OBJECTIVES: To report a novel pathogenetic mutation occurring in exon 6 of the Notch3 gene, a location not previously recognized in patients with CADASIL, and to report the results of magnetic resonance spectroscopy in CADASIL. METHODS: Mutation analysis of the Notch3 gene was performed in 2 patients belonging to a large kindred manifesting CADASIL, as well as in 7 clinically unaffected members of the family and 200 control chromosomes. Proton magnetic resonance spectroscopy was used to estimate metabolite resonance intensities in the 2 affected subjects. RESULTS: Sequence analysis of the Notch3 gene showed a new missense mutation CGC-->TGC in codon 332 of exon 6, resulting in the replacement of an arginine residue with a cysteine. This mutation was never observed in the 7 unaffected members of the family and the 200 control chromosomes examined. Proton magnetic resonance spectroscopy showed a diffuse decrease in cerebral N-acetylaspartate, indicating the presence of widespread axonal damage. CONCLUSIONS: Our findings emphasize the role of direct DNA sequence analysis for the diagnosis of CADASIL. Moreover, the results of proton magnetic resonance spectroscopy suggest that widespread axonal damage may be an early finding of the disease.

The parkin gene is not a major susceptibility locus for typical late-onset Parkinson's disease.

We investigated the parkin gene in 118 patients with typical Parkinson's disease (PD), i.e. in patients who had an onset of PD after the age of 45 years. The study group included 95 subjects with sporadic PD and 23 subjects from 18 families with autosomal recessive PD. No pathogenetic mutations in the parkin gene were detected either in familial or in sporadic patients. Our findings indicate that the parkin gene is not involved in the pathogenesis of classic late-onset PD.

Cerebral venous thrombosis and isolated intracranial hypertension without papilledema in CDH.

BACKGROUND: There is evidence that patients with chronic daily headache (CDH) may have isolated intracranial hypertension without papilledema (IHWOP). Recent studies have emphasized that isolated IH may be due to cerebral venous thrombosis (CVT). OBJECTIVE: To detect the occurrence of CVT in patients with CDH. METHODS: The authors investigated the occurrence of CVT in 114 consecutive patients with CDH by using MR venography (MRV). A portion of these patients underwent a lumbar puncture (LP) to measure CSF pressure. MRV and LP were also performed in 28 age-matched control subjects. RESULTS: In all the control subjects, both MRV and CSF pressure were normal. One hundred three of the 114 patients with CDH had normal MRV. Twenty-seven (Group 1) of these 103 patients underwent LP, and all of them had normal CSF pressure. Eleven (9.6%) of the 114 patients with CDH had CVT of one or both transverse sinuses. Six of these 11 patients had flowing abnormalities of one transverse sinus (Group 2), whereas the remaining five patients showed involvement of both transverse sinuses (Group 3). The CSF pressure of Group 2 was higher than that of either Group 1 or the control subjects, and one of the six patients showed isolated IHWOP. Patients of Group 3 displayed the highest CSF pressure, and four of five had isolated IHWOP. The headache profiles of patients with CDH and CVT did not differ from those of patients with CDH but normal MRV. CONCLUSIONS: CVT, as detected by MRV, occurred in 9.6% of patients who presented with CDH. Almost half of the patients with CVT had isolated IHWOP. These results suggest that MRV may be a useful tool for selecting patients with CDH who should have LP to exclude isolated IHWOP.

The parkin gene is not involved in late-onset Parkinson's disease.

Mutations in the parkin gene have been reported in patients with early onset PD. The authors investigated the parkin gene in 118 patients who had an onset of PD after age 45 years: 95 subjects were sporadic patients and 23 subjects were from 18 families with a probable autosomal recessive inheritance. No pathogenetic mutations in the parkin gene were detected either in familial or in sporadic patients. Moreover, no differences were found between patients and 100 age-matched normal controls in the allele and genotype frequencies of four exonic parkin polymorphisms.

Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy.

The authors report a large pedigree from southern Italy with Charcot-Marie-Tooth disease type 2A (CMT2A). The clinical picture was uniform and characterized by distal muscular weakness and atrophy in the lower limbs, reduced or absent tendon reflexes mainly in the lower limbs, and mild sensory impairment in the feet. Significant linkage to the CMT2A locus on chromosome 1p35-p36 was detected. Based on informative recombination in affected individuals, the authors mapped the CMT2A gene between D1S160 and D1S170.

Argentine Randomized Study: Coronary Angioplasty with Stenting versus Coronary Bypass Surgery in patients with Multiple-Vessel Disease (ERACI II): 30-day and one-year follow-up results. ERACI II Investigators.

OBJECTIVE: The purpose of this study was to compare percutaneous transluminal coronary revascularization (PTCR) employing stent implantation to conventional coronary artery bypass graft surgery (CABG) in symptomatic patients with multivessel coronary artery disease. BACKGROUND: Previous randomized studies comparing balloon angioplasty versus CABG have demonstrated equivalent safety results. However, CABG was associated with significantly fewer repeat revascularization procedures. METHODS: A total of 2,759 patients with coronary artery disease were screened at seven clinical sites, and 450 patients were randomly assigned to undergo either PTCR (225 patients) or CABG (225 patients). Only patients with multivessel disease and indication for revascularization were enrolled. RESULTS: Both groups had similar clinical demographics: unstable angina in 92%; 38% were older than 65 years, and 23% had a history of peripheral vascular disease. During the first 30 days, PTCR patients had lower major adverse events (death, myocardial infarction, repeat revascularization procedures and stroke) compared with CABG patients (3.6% vs. 12.3%, p = 0.002). Death occurred in 0.9% of PTCR patients versus 5.7% in CABG patients, p < 0.013, and Q myocardial infarction (MI) occurred in 0.9% PTCR versus 5.7% of CABG patients, p < 0.013. At follow-up (mean 18.5 +/- 6.4 months), survival was 96.9% in PTCR versus 92.5% in CABG, p < 0.017. Freedom from MI was also better in PTCR compared to CABG patients (97.7% vs. 93.4%, p < 0.017). Requirements for new revascularization procedures were higher in PTCR than in CABG patients (16.8% vs. 4.8%, p < 0.002). CONCLUSIONS: In this selected high-risk group of patients with multivessel disease, PTCR with stent implantation showed better survival and freedom from MI than did conventional surgery. Repeat revascularization procedures were higher in the PTCR group.

A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1.

BACKGROUND: Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is caused by mutations in the alpha4 subunit of the neuronal nicotinic acetylcholine receptor (CHRNA4) gene, mapping on chromosome 20q13.2. A second ADNFLE locus was mapped on chromosome 15q24. OBJECTIVE: To report a new third ADNFLE locus on chromosome 1 in a large Italian family. METHODS: The authors performed a clinical and genetic study in a large, three-generation ADNFLE family from southern Italy, including eight affected individuals and three obligate carriers. RESULTS: The age at onset of seizures was around 9 years of age and all affected individuals manifested nocturnal partial seizures of frontal lobe origin. Interictal awake and sleep EEG recordings showed no definite epileptiform abnormalities in most patients. Ictal video-EEG showed that the attacks were partial seizures with a frontal lobe semiology. Intellectual and neurologic examinations, and brain CT or MRI results were always normal. Carbamazepine was effective in all treated patients. Exclusion mapping of the known loci linked to ADNFLE-ENFL1, and ENFL2, on chromosomes 20q13.2 and 15q24-was performed on the pedigree before starting the genome-wide linkage analysis. The whole genome scan mapping allowed the identification of a new ADNFLE locus spanning the pericentromeric region of chromosome 1. CONCLUSIONS: The authors provided evidence for a third locus associated to autosomal dominant nocturnal frontal lobe epilepsy on chromosome 1. Among the known genes mapping within this critical region, the ss2 subunit of the nicotinic receptor (CHRNB2) represents the most obvious candidate.

The long-duration response to L-dopa in the treatment of early PD.

OBJECTIVE: To investigate the long-duration response (LDR) to L-dopa resulting from different regimens of L-dopa. BACKGROUND: In clinical practice, L-dopa is usually administered without considering the LDR due to the drug. Moreover, it has not been established whether in early PD a multiple daily intake of small doses of L-dopa may induce a sustained LDR. METHODS: Twenty-four patients with early PD underwent a double-blind, crossover trial, comparing three different 15-day treatment periods with L-dopa: treatment A (250 mg every 24 hours); treatment B (250 mg every 8 hours); and treatment C (125 mg every 8 hours). After completion, 20 patients underwent a subsequent open-label randomized trial with prolonged treatments (250 mg every 24 hours or 125 mg every 8 hours) up to 3 months. LDR was measured at the end of each treatment. RESULTS: All patients achieved a sustained LDR after treatments A and B, whereas only 17% of patients reached a sustained LDR after treatment C. Overall, the LDRs resulting from treatments A and B had similar magnitude and were larger than the LDR deriving from treatment C. After 3 months of prolonged treatments, only three of 10 patients treated with 125 mg every 8 hours increased their LDR, whereas all 10 patients treated with 250 mg every 24 hours had a maximal and stable LDR. CONCLUSIONS: Sustained LDR to L-dopa is dependent on the amount of the single doses of the drug. A regimen scheduling small, divided doses during the day, as done in clinical practice, is a questionable therapy for the achievement of a sustained LDR.

Interhemispheric threshold differences in idiopathic generalized epilepsies with versive or circling seizures determined with focal magnetic transcranial stimulation.

The interhemispheric difference of the motor-cortical threshold (IDMT) was studied with focal magnetic transcranial stimulation (TCS) in ten patients with idiopathic generalized epilepsy (IGE) who also displayed versive or circling seizures (IGEvc). The data were compared with those obtained from two control groups; 13 patients with IGE without asymmetrical motor seizures, and 25 normal volunteer subjects. The IDMT, referred to as the percentage of maximum stimulator output, was assessed by focal TCS applied to the hand areas. Seven patients with IGEvc and only one patient with IGE had an interhemispheric motor threshold beyond the normal range. The IDMT in IGEvc patients was significantly higher compared to that of IGE patients and normal individuals. An interhemispheric imbalance of cortical excitability may explain lateralized ictal motor manifestations in patients with IGEvc.

Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome.

We report on 2 brothers (aged 19 and 12 years) with Marinesco-Sjögren syndrome who also had very low serum vitamin E concentrations with an absence of postprandial chylomicrons. The molecular study ruled out ataxia with isolated vitamin E deficiency, abetalipoproteinemia, and hypobetalipoproteinemia. The electron microscopy of the intestinal mucosa was consistent with a chylomicron retention disease. We speculate that both chylomicron retention disease and Marinesco-Sjögren syndrome are related to defects in a gene crucial for the assembly or secretion of the chylomicron particles, leading to very low serum levels of vitamin E.

Familial temporal lobe epilepsy autosomal dominant inheritance in a large pedigree from southern Italy.

To further elucidate the inheritance pattern and range of phenotypic manifestations of benign familial temporal lobe epilepsy (FTLE), we report a large family recently identified in southern Italy. There were 8 patients (4 men), ranging in age from 31 to 68 years in three generations. One affected patient was deceased at the time of the study. Genealogical study strongly supported autosomal dominant inheritance with incomplete penetrance, as three unaffected individuals transmitted the disease. Clinical anticipation could not be assessed because of the ascertainment method. Male to male transmission occurred. Identifiable antecedents for seizures were present in only two patients, who had a simple febrile convulsion and a closed head trauma, respectively. Migraine was overrepresented in this family. Onset of seizures ranged from 17 to 52 years (mean: 27 years). All patients had weekly simple partial seizures suggestive of temporal origin with vegetative or experiential phenomena. Very rare partial complex seizures occurred in 6/7 patients. One had two generalized nocturnal seizures as well. Two had previously been misdiagnosed as having gastritis or panic attacks, and one had not been diagnosed. Interictal anteromesiotemporal spiking was seen in 5/7 patients, and occurred mostly during NREM sleep. Neurological examination, brain CT or MR scans were normal. Antiepileptic medication always controlled the seizures.