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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract During a survey of the mutations of the low density lipoprotein receptor (LDL-R) gene in Italian patients with familial hypercholesterolemia (FH), we identified a novel point mutation, that creates a new EcoRI site at the 5′ end of exon 7, in a heterozygous FH subject (FH-100). The sequence of a cDNA fragment encompassing exon 7 showed the presence of a G→T transversion in codon 297; this created a new EcoRI site and produced a missense mutation, leading to a Cys297→Phe substitution in repeat A of the epidermal growth factor (EGF) precursor homology domain of LDL-R. Since the substitution of Cys297 disrupts the intracellular transport of the LDL-R protein, as previously demonstrated by site-directed mutagenesis, we suggest that this mutation is the cause of FH in the FH-100 proband. We screened the DNA of 303 Italian FH patients by amplification of exon 7 from genomic DNA followed by digestion with EcoRI or by Southern blotting. Two individuals (FH-64 and FH-127) were found to be carriers of the Cys297→Phe mutation. Restriction fragment length polymorphism analysis demonstrated that, in two kindreds (FH-64 and FH-100), the haplotype in linkage with the Cys297→Phe mutation was the same, suggesting the presence of a common ancestor. The Cys297→Phe mutation has been designated FHTrieste after the name of the city in Northern Italy from which probands FH-100 and FH-127 originate.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of clinical pharmacology 37 (1989), S. 617-619 
    ISSN: 1432-1041
    Keywords: clotiazepam ; pharmacokinetics ; healthy volunteers
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary We have studied the single dose pharmacokinetics of 5 mg clotiazepam drops, oral tablets, and sublingual tablets in a cross-over study in 6 healthy volunteers (median age 28 years). The formulations had similar systemic availability. Compared with oral tablets the sublingual route gave a lower peak concentration and a delayed peak time, while drops gave a greater maximum concentration with a similar peak time. The use of drops is suggested for a more marked initial effect and the sublingual route for easier administration, especially in the elderly.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Cannabinoid receptors and the endocannabinoids anandamide and 2-arachidonoylglycerol have been suggested to regulate food intake in several animal phyla. Orthologs of the mammalian cannabinoid CB1 and CB2 receptors have been identified in fish. We investigated the presence of this endocannabinoid system in the brain of the goldfish Carassius auratus and its role in food consumption. CB1-like immunoreactivity was distributed throughout the goldfish brain. The prosencephalon showed strong CB1-like immunoreactivity in the telencephalon and the inferior lobes of the posterior hypothalamus. Endocannabinoids were detected in all brain regions of C. auratus and an anandamide-hydrolysing enzymatic activity with features similar to those of mammalian fatty acid amide hydrolase was found. Food deprivation for 24 h was accompanied by a significant increase of anandamide, but not 2-arachidonoylglycerol, levels only in the telencephalon. Anandamide caused a dose-dependent effect on food intake within 2 h of intraperitoneal administration to satiated fish and significantly enhanced or reduced food intake at low (1 pg/g body weight) or intermediate (10 pg/g) doses, respectively, the highest dose tested (100 pg/g) being inactive. We suggest that endocannabinoids might variously contribute to adaptive responses to food shortage in fish.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1460-9592
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Craniopagus conjoining represents a complex and challenging issue for neurosurgeons as well as for anesthesiologists. A rare face-to-face case of conjoined twins underwent surgical separation and presented peculiar differences compared with those already reported in the literature. Even in cases lacking large cerebrovascular sinus connections, the impending risk of large blood loss and hemorrhagic shock in the infant requires a high level of surveillance and the institution of invasive monitoring.
    Type of Medium: Electronic Resource
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  • 5
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    Milano : Periodicals Archive Online (PAO)
    Aevum. 56:2 (1982:magg./ag.) 263 
    ISSN: 0001-9593
    Topics: Linguistics and Literary Studies , History
    Notes: Miscellanea
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  • 6
    ISSN: 1573-7284
    Keywords: Alcohol consumption ; Cirrhosis ; Coffee consumption ; Tobacco smoking
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In order to assess the interaction between alcohol intake, tobacco smoking and coffee con sumption in determining the risk of liver cirrhosis we carried out a hospital-based case-control study involving 115 patients at their first diagnosis of cirrhosis and 167 control patients consecutively enrolled in the General Hospitals of the Province of L'Aquila (Central Italy). The mean life-time daily alcohol intake (as g ethanol consumed daily) was measured by direct patient interviews, whose reproducibility was 〉0.80 and similar for cases and controls, as checked by interviewing the relatives of a sample of 50 cases and 73 controls. During the same patient's interview we also measured the mean consumption of coffee (daily number of cups of filtered coffee) and tobacco (life-time daily number of cigarettes smoked). A dose-effect relationship on the risk of cirrhosis was present both for alcohol intake — for which the risk was significantly increased above 100 g of daily intake — and for cigarette consumption. The latter did not however improve the goodness-of-fit of a logistic regression model including alcohol intake as covariate. By contrast, coffee consumption had a protective effect on the risk of cirrhosis and significantly improved the goodness-of-fit of such a model. Abstaining from coffee consumption determined both a significantly increased risk of cirrhosis, even for daily alcohol intake below 100 g, and a multiplicative effect with alcohol intake on this risk. In patients drinking ⩾101 g ethanol daily the relative risk increased from 5.5 (95% confidence interval: 1.4–22.0) for coffee consumers to 10.8 (95% confidence interval: 1.3–58.1) for coffee abstainers. We conclude that: (1) tobacco smoking is likely to be a faint risk factor for cirrhosis, and studies on wider patients series should be performed for confirmation; (2) coffee drinking is associated with a reduced risk of cirrhosis. Whether coffee contains some hitherto unknown protective substances, or is just a marker of other life-style or dietary protective factors, deserves further clarification.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1433-9285
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We carried out a population-based prevalence study to assess the association between the presence of alcohol-related problems within the family and the risk of disorders in the children's global functioning level. We enrolled 394 children attending nursery, primary and secondary schools and their parents living in two municipalities in Central Italy. Alcohol-related problems within the family were reported by registered records obtained from general practitioners and teachers, who were considered as preference raters. The childrens level of functioning was assessed by teachers, who attributed to each school child a score according to the Children Global Assessment Scale (CGAS). The number of reports of alcohol-related problems within the family and the CGAS scores were considered, respectively, as independent and dependent variables in a multiple logistic regression model for ordinal outcome variables. The children's sex and age, and the age of their parents, the duration of the parents' education and family size were considered as covariates. We found a strong association between a poor level of functioning in the children in the social environment and alcohol-related problems within the family. The pravalence odds ratio (and 95% confidence interval) decreased from 0.5 (range 0.2–1.3) for children whose families were reported by one rater to 0.4 (range 0.2–0.8) for children whose families were reported by two raters, the non-reported families being the reference category, suggesting that the level of functioning of the child decreased as reports of alcohol-related problems in the family increased.
    Type of Medium: Electronic Resource
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  • 8
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    Firenze : Periodicals Archive Online (PAO)
    Archeologia medievale. 20 (1993) 633 
    ISSN: 0390-0592
    Topics: Archaeology , History , Art History
    Notes: NOTE E DISCUSSIONI
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  • 9
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    Firenze : Periodicals Archive Online (PAO)
    Archeologia medievale. 18 (1991) 737 
    ISSN: 0390-0592
    Topics: Archaeology , History , Art History
    Notes: NOTE E DISCUSSIONI
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  • 10
    ISSN: 1432-5233
    Keywords: Key words Type 1 diabetes mellitus ; Management ; Cross-sectional study
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The main objectives of type 1 diabetes mellitus (DM) management include keeping glycemia levels within the euglycemic range to prevent complications. Daily self-monitoring is an important problem for many diabetic patients, particularly for adolescents. The aim of this study was to evaluate the determinants of poor daily self-monitoring, focusing on the patients' parents' perception of the problem. In order to evaluate parents' awareness of their children's disease-monitoring status, we carried out a cross-sectional investigation of a sample of children and adolescents from a population-based register, with the corresponding population of parents. To collect our data, we used a 33-item questionnaire, separately administered by diabetologists to both parents and children. We estimated the concordance with respect to patients' and parents' answers. Adolescents followed their overall medical prescriptions more regularly (48.8%) than children (29.7%), but mostly frequently they forgot to use glycemic tests (adolescents 42.4%, children 29,7%). A major duration of disease affected HbA1c levels (values 〉: 8%) of patients younger than 14 years (pFisher = 0.016). Our results indicate a worse compliance of adolescents with respect to children in attending to daily self-monitoring, not just regarding daily glycemic levels but also the course of daily activities such as going to school, studying, working, and simulating symptoms and signs of hypo-hyperglycemia. Parents mostly ignored their child's self-monitoring status and the related motivations.
    Type of Medium: Electronic Resource
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