A potential risk assessment tool to monitor pathogens circulation in coastal waters.

The present study reports data on a 20 months campaign monitoring enteric viruses (hepatitis A, norovirus, rotavirus, astrovirus, sapovirus, and aichivirus) and bacteria (Salmonella spp.) in seawater. The aim of this work was to assess the potential correlation among the presence of viruses/bacteria and different environmental factors like seasonality, water discharge sources (treated and untreated wastewater, mixed waters and raw water) as well as influence of the Italian lockdown measure against COVID-19 pandemic. Results showed different prevalence of the investigated viruses with values equal to 16 % for norovirus GI, 15.1 % for norovirus GII, followed by 13.8 % for astrovirus, and 13.3 % for sapovirus. Rotavirus was detected in the 8.4 % of samples and aichivirus was detected with the lowest prevalence of 3.5 %. Hepatitis A virus was never identified in the monitoring campaign. Salmonella spp. was detected with a prevalence of 36.6 %. Statistical analysis displayed a high correlation for the two noroviruses simultaneous detection (NGI and NGII) while a lower correlation was found for co-presence of noroviruses with astrovirus, sapovirus or Salmonella spp. A significant decrease of enteric pathogens in seawater was observed during the restrictions period. Results on seasonality highlighted a higher viral prevalence correlated to the wet season for all the pathogens but rotavirus and aichivirus, which instead showed an opposite trend and a higher incidence in the dry season. With respect to discharge typology, some viruses displayed a higher prevalence in treated waters (astrovirus, rotavirus, sapovirus and aichivirus) while the other investigated pathogens (noroviruses and Salmonella spp.) showed a higher prevalence in mixed waters. The main observations of this work were used to define a potential monitoring strategy that could be useful for sanitary Authorities to implement surveillance plans aimed at preventing possible sanitary outbreaks and/or environmental quality deterioration.

Oxygen absorption data of multilayer oxygen scavenger-polyester films with different layouts.

Oxygen absorption measurements in continuous regard active multilayer films with different layouts, all incorporating a PET/Oxygen scavenger (OS) layer, operating as active O2 barrier, inserted between two PET inert layers, acting as passive O2 barrier. The data set is related to "Transport properties of multilayer active PET films with different layers configuration" by Apicella et al. (2018) [1]. A set of four multilayer films, with different relative thickness of the active and inert layers, was produced using a laboratory scale co-extrusion cast-film equipment and was analyzed in terms of oxygen scavenging performance. Single layer active and inert layers were also produced for comparison. The results have shown a longer exhaustion time for all the active multilayer films, respect to the active monolayer one. Moreover, at constant thickness of the active layer, the exhaustion time increases by increasing the thickness of the inert layers, whereas, at constant thickness of the inert layers, the residual oxygen concentration decreases by increasing the thickness of the active layer.

Dexmedetomidine: Current Role in Burn ICU.

Dexmedetomidine (DEX) is a relativelyrecent a2-adrenergic agonist which provides sedation, anxiolysis and analgesia with much less respiratory depression than other sedatives. These characteristics have implemented the use of the drug in the ICUs in order to achieve the target of a "arousable sedation", thanks to its significant manageability. Its sedative-analgesic properties are also particularly suitable for use in burn ICUs, both adult and pediatric, which is why the current Guidelines have recognized a central role in the management of these categories of patients. Finally, DEX has showed significant anti-inflammatory effect both in animal models and in preliminary clinical trials, reducing vasopressor requirements and main mediators levels of the systemic inflammatory response involved in sepsis and similar processes, suggesting its use for improved outcome in ICU septic patients.

Transport, mechanical and global migration data of multilayer copolyamide nanocomposite films with different layouts.

Transport, mechanical and global migration data concern multilayer food packaging films with different layouts, all incorporating a layered silicate/polyamide nanocomposite as oxygen barrier layer, and a low-density polyethylene (LDPE) as moisture resistant layer in direct contact with food. The data are related to "Tuning of co-extrusion processing conditions and film layout to optimize the performances of PA/PE multilayer nanocomposite films for food packaging" by Garofalo et al. (2017) [1]. Nanocomposite multilayer films, with different relative layer thicknesses and clay types, were produced using a laboratory scale co-extrusion blown-film equipment and were analyzed in terms of transport to oxygen and water vapor, mechanical properties and overall migration. The results have shown that all the multilayer hybrid films, based on the copolyamide layer filled with Cloisite 30B, displayed the most significant oxygen barrier improvements and the best mechanical properties compared to the unfilled films. No significant alteration of the overall migration values was observed, as expectable [2], [3], [4]. The performance improvement was more relevant in the case of the film with the thinner nanocomposite layer.

Autologous purified peripheral blood SCT in childhood low-risk relapsed ALL.

The treatment of childhood B-cell-precursor ALL after isolated-extramedullary or late relapse is controversial. Most approaches are based on chemotherapy or allogeneic transplantation. The aim of this report is to assess the long-term outcome of children with 'low-risk' relapsed ALL treated according to a prospective purified auto-transplantation protocol. From January 1997 to March 2004, at a single pediatric Center, 30 ALL consecutive children, lacking an HLA-identical sibling, were treated according to the autologous purified peripheral blood stem cell protocol after isolated-extramedullary (7) or late medullary (24) relapse. After the 'DIAVE' mobilizing regimen a median of 11.6 × 10(6)CD34+/Kg (range 3.9-27.4) were collected. Leukaphereses were depleted by 99% of CD19+cells (range 98-100) by means of a double step immunological purification. The conditioning regimen included TBI. No early severe complications nor transplant-related deaths occurred; late effects, as expected, mostly consisted in endocrinological issues and were assessed at a median follow-up of 8.5 years. Five-year-EFS and survival were 68.5% (s.e. 7.9) and 85.7% (s.e. 5.9), respectively, for the 35 eligible patients and 70.0% (s.e. 8.4) and 86.7% (s.e. 6.2) for the 30 patients actually transplanted as per protocol. The outcome of this series favorably compares with historical data regarding both autologous transplantation and standard salvage chemotherapy.

Cervico-oculo-Acoustic syndrome in a male with consanguineous parents.

BACKGROUND: The cervico-oculo-acoustic syndrome comprises Klippel-Feil anomaly, sensorineural deafness and Duane's retraction syndrome. Polygenic, autosomal dominant, and X-linked inheritance have been hypothesized. The disorder has rarely been reported in males. CASE REPORT: A 42-year-old male, born of consanguineous parents, presented with Duane's syndrome, mixed hearing loss, C2-C3 fusion, neck stiffness, and right facial palsy. A variety of cardiac, neurological and urogenital anomalies occurred in his relatives. The electro-oculographic studies showed impaired abduction and adduction of the right eye and impaired abduction of the left eye. Vergence, vertical eye movements and peripheral vestibular responses were normal. Somatosensory evoked potentials showed absence of the N13 peak and brainstem auditory evoked potentials bilateral delay of the I-III interpeak latencies. CONCLUSIONS: Consanguinity of the patient's parents, not previously reported, suggests autosomal recessive inheritance, but autosomal dominant inheritance is indicated by the family history. The pattern of the oculomotor deficit is consistent with bilateral dysplasia of the abducens nuclei with preserved internuclear neurons in the right abducens nucleus. Neurophysiological investigations revealed lower brainstem and cervical cord involvement.

Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family.

Charcot- Marie-Tooth disease type 2 is clinically and genetically heterogeneous. A particular clinical subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by diaphragm and vocal cord paralysis, is labelled Charcot-Marie-Tooth disease type 2C but no genetic locus has been mapped for this form. We describe the first European family affected by Charcot-Marie-Tooth disease type 2C. Genetic analysis excluded linkage to locus of Charcot-Marie-Tooth disease type 2A, B, D, E and F, and to locus of distal hereditary motor neuronopathy type VII. In this family the disease has high penetrance, variable severity and apparently the most severe limb muscle involvement in the youngest generation. Vocal cord paralysis is unrelated to the degree of muscular weakness and patients with the most severe muscle involvement have absent or minimal respiratory symptoms. Charcot-Marie-Tooth disease type 2C is clinically and genetically different from Charcot-Marie-Tooth disease type 2A, B, D, E and F, and is not allelic with distal hereditary motor neuronopathy type VII.

Unawareness of dyskinesias in Parkinson's and Huntington's diseases.

We performed a clinical study to evaluate the unawareness of dyskinesias in patients affected by Parkinson's disease (PD) and Huntington's disease (HD). Thirteen PD patients with levodopa-induced dyskinesias and 9 HD patients were enrolled. Patients were asked to evaluate the presence of dyskinesias while performing specific motor tasks. The Abnormal Involuntary Movement Scale (AIMS) and Goetz dyskinesia rating scale were administered to determine the severity of dyskinesias. The Unified Parkinson's disease rating scale (UPDRS) and Unified Huntington's Disease Rating Scale (UHDRS) were used in PD and HD patients, respectively. In PD we found a significant negative relationship between unawareness score at standing and AIMS score and between unawareness score at hand pronation-supination and AIMS score for upper limbs. In HD we found a significant positive relationship between total unawareness score and UHDRS score and between total unawareness score and disease duration. In PD the unawareness seems to be inversely related with severity of dyskinesias, while in HD it is directly related to disease duration and severity.

Relationships between processing-structure-migration properties for recycled polypropylene in food packaging.

In this work the relationships between processing, structure and migration properties of recycled polypropylene (PP) were analysed in relation to the possible use of recycled PP in food packaging applications. PP containers used in food packaging were contaminated with food and then washed, reduced into a processable size, dried and reprocessed by injection moulding. Gel Permeation Chromatography (GPC) analysis, mechanical, and total migration tests were performed on injection moulded samples to verify the effect of the recycling process on the structure and properties of PP. In order to evaluate the effect of the molecular weight on the properties of the recycled polymer, the study was conducted on containers produced by injection moulding made from a low molecular weight (LMW) PP and on containers produced by thermoforming made from a high molecular weight (HMW) PP.

Long-term effect of a single dose of flunarizine in Huntington's disease.

We report a preliminary pilot study on the clinical efficacy of flunarizine (FNZ), a calcium-entry blocker that causes extrapyramidal side-effects, in 10 patients with Huntington's disease (HD). FNZ (20 mg) administered by the sublingual route resulted in a decrease in choreic movements and improved dexterity in performing several tests. These effects lasted for at least 7 days after a single dose. Therefore, FNZ seems to exert the same effect as a long-acting neuroleptic agent in our HD patients.Copyright Lippincott-Raven Publishers

Alterations in thromboxane synthase and thromboxane A2 receptors in experimental alcoholic liver disease.

We have previously shown that hepatic thromboxane production is increased in experimental alcoholic liver disease. The present study was designed to investigate the cell type in liver responsible for increased thromboxane synthesis and the role of the thromboxane receptor system in the pathogenesis of liver injury. Male Wistar rats were divided into four groups and fed a liquid diet with dextrose or ethanol for 2, 4 and 8 weeks. Medium chain triglycerides or corn oil provided the dietary fatty acids. Kupffer cells, endothelial cells and hepatocytes were isolated from rats fed the different diets for 4 weeks. Liver histopathology, thromboxane synthase mRNA and protein, thromboxane levels and thromboxane receptor mRNA were evaluated in each group. In rats fed corn oil and ethanol, an increase in thromboxane synthase and liver levels of thromboxane metabolites were significantly higher than in the corn oil-dextrose-fed group and were correlated with the presence of pathological changes in the liver. Kupffer cells showed increased expression of thromboxane synthase. In rats fed medium chain triglycerides and ethanol, the levels of thromboxane synthase mRNA and protein were significantly lower than in the corn oil-ethanol-fed groups (P < .01) and liver injury was absent. However, the levels of thromboxane synthase mRNA, protein and thromboxane were significantly higher in the medium chain triglyceride-ethanol-fed rats than in the respective dextrose-fed controls. Among the different cell types, thromboxane A2-receptor mRNA levels were highest in the Kupffer cells in corn oil-ethanol-fed rats. The increase in thromboxane synthase in Kupffer cells together with an increase in thromboxane receptor levels suggests than thromboxanes may contribute to liver injury in ethanol-fed rats.

Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers.

The length of the CAG repeat responsible for Huntington disease has been analysed by two PCR methods in blood and sperm DNA of 13 expansion carriers, two carriers of intermediate alleles, and four normal subjects. The two methods consistently confirmed size heterogeneity, more pronounced in sperm and confined to the CAG stretch. Based on densitometric scanning of films, four indexes addressed to different features of the PCR pattern were used to quantitate mosaicism. These revealed strong correlations with CAG size and intergenerational instability. However, mosaicism did not show a greater similarity in sibs who shared the same HD chromosome, nor was correlated with instability in the proband's pedigree. Our data do not support the hypothesis that cis-acting factors play a major role in the instability and leave the CAG size per se as the major determinant of sperm cell CAG instability.

Transglutaminase activity is related to CAG repeat length in patients with Huntington's disease.

Huntington's disease (HD) is a neurodegenerative disorder associated with CAG repeat expansion. We measured transglutaminase (TGase) activity in lymphocytes from 35 HD patients and from healthy individuals to ascertain whether it was altered in this condition. TGase activity was above maximum control levels in 25% of HD patients; it was correlated with the age of the patient and inversely correlated with the CAG repeat length. These results suggest that: (1) HD could be biochemically heterogeneous, and (2) the length of the CAG repeat expansion/TGase ratio could be important in the manifestation of HD.

Childhood onset of Friedreich ataxia: a clinical and genetic study of 36 cases.

The onset of Friedreich ataxia (FA) was before 10 years of age in 36 out of 95 personally observed patients. We studied the clinical and laboratory findings of these childhood onset patients. Mean onset age +/- SD was 6.3 +/- 2.4 years. Gait and stance ataxia and lower limb areflexia were constant, dysmetria, dysarthria, Babinski sign, pes cavus, scoliosis and decreased vibration sense were present in the majority of patients. Higher occurrence of diabetes in childhood onset cases (25%) was the only statistical difference in comparison with later onset patients. Mean onset age of diabetes was 21.1 +/- 6.9 years and all patients required insulin. ECG was abnormal in 72% of the patients and echocardiographic evidence of hypertrophic cardiomyopathy was found in 43%. Linkage analysis, performed in 10 families, showed no recombination between the polymorphic markers of the 9q13-21.1 region and the disease locus with a peak lod score of 4.21 at a recombination fraction = 0.00.

Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.

Twenty two patients from 17 families with Friedreich's disease phenotype but with onset ranging from the ages of 21 to 36 are described. Comparison with "typical" Friedreich's disease with onset before 20 years of age showed only a lower occurrence of skeletal deformities. The peripheral and central neurophysiological findings, sural nerve biopsy, and the neuroradiological picture did not allow the differentiation between "late onset" and "typical" Friedreich's disease. Duration of disease from onset to becoming confined to a wheelchair was five years longer in late onset patients. Sixteen patients and 25 healthy members from eight families were typed with the chromosome 9 markers MLS1, MS, and GS4 tightly linked to the FRDA locus. All families showed positive lod scores with a combined value of 5.17 at a recombination fraction of theta = 0.00. It is concluded that "late onset" Friedreich's disease is milder than the "typical" form and that it maps to the same locus on chromosome 9.

Onset symptoms in 510 patients with Huntington's disease.

The onset of Huntington's disease (HD) is preceded or accompanied by events and symptoms which contribute to the natural history of the disease. Data obtained from the first 510 completed 'Questionnaires for Affected Individuals', recorded by the National Huntington's Disease Research Roster (NHDRR) were analysed. The following features were evaluated: (1) neurological and psychiatric onset symptoms; (2) the precipitating effect of stressful events and drugs; (3) the modification after onset of smoking and alcohol consumption. The most frequent psychiatric onset symptom was depression. Stressful events in the year before onset occurred in 43% of patients. However, onset age was the same in patients with and without previous stressful events. Smoking and especially alcohol consumption showed a decreasing trend after onset.

Suicide risk in Huntington's disease.

In order to evaluate the relevance of suicide risk in families affected by Huntington's disease (HD), 2793 subjects registered with the National Huntington's Disease Research Roster were studied. Suicide was the reported cause of death in 205 subjects (7.3%). This group included affected and possibly affected subjects, subjects at 50% and 25% risk, possibly at risk subjects, and normal relatives. In all categories suicide was more frequent than in the general US population. The data suggest that suicide is quite frequent in some families with HD. This increased suicide risk must be carefully considered in planning genetic counselling for predictive testing in HD.

[Huntington chorea. Clinical correlations and preliminary neuropsychological data]. / Malattia di Huntington. Correlazioni cliniche e neuropsicologiche dati preliminari.

One of the cardinal features of Huntington's disease (HD) is the progressive cognitive deterioration. However, studies carried out on the neuropsychological profile in HD are discordant because there are differences in study designs, stage of disease and because of the coexistence of psychiatric disorders and cultural and educational background of subjects. Aim of this study is to relate the neuropsychological assessment with duration of illness and severity of motor impairment. Fourteen patients are given a neuropsychological battery, the results were statistically related to age and schooling. The data demonstrate very slow progression of cognitive deterioration without focal impairment of cognitive functions and without correlation with the severity of disease.

Genetic linkage analysis and presymptomatic testing in Huntington's disease. First report in Italy.

Since 1979 data about Huntington's Disease (HD) in Campania, a region of Southern Italy, has been collecting. The prevalence of HD in this sample is 30.3 x 10(-6) (115 pedigrees, 1470 individuals). Mean age at onset was 38.67 years and the juvenile (onset before 20 years) accounted for 5.8%. Genetic linkage analysis in 4 unrelated pedigrees with D4S10 and D4S95 DNA probes has been performed. The absence of genetic heterogeneity--already proposed in a cooperative study for one pedigree--has been confirmed in this study.

[An ambulatory regional center for extrapyramidal and cerebellar disorders. 10 years' experience in Campania]. / Un centro ambulatoriale regionale per le malattie extrapiramidali e cerebellari. Dieci anni di esperienza in Campania.

This study concerns an analysis of outpatients seen at a Regional Clinic for Extrapyramidal and Cerebellar Disorders during the period 1974-1984. The main findings to emerge from this study are: 1) a predominance of males; 2) peak attendance figures correlated with precise factors; 3) the geographic origin of patients reflected the distance from the Regional Clinic and the relationship between local physicians and physicians at the Regional Clinic. Lastly, this epidemiological study has led to improvements in specific protocols for the management of the long-term outpatient, and to an increase in the number of patients attending the Center.