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  • 1
    Electronic Resource
    Electronic Resource
    Rapid PCR-RFLP Method for the Identification of Marine Fish Fillets (Seabass, Seabream, Umbrine, and Dentex) (2000)
    Oxford, UK : Blackwell Publishing Ltd
    Journal of food science 65 (2000), S. 0 
    Details
    ISSN: 1750-3841
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition , Process Engineering, Biotechnology, Nutrition Technology
    Notes: A rapid and reliable PCR-RFLP method was optimized to identify marine fish fillets. Seabass, seabream, umbrine, and dentex were considered in the study. After DNA extraction and PCR, the 359 bp amplification products, obtained from gene encoding the cytochrome b, were subjected to restriction enzyme analysis. All the enzymes tested were not able to distinguish all the 5 species at the same time, but the combination of the results obtained from the digestion HaeIII and NlaIII can be used to differentiate the fish fillets considered. The method described is sensitive, rapid, and reliable, and it could be used to expose fraudulent substitutions with less valuable fish.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2621.2000.tb10604.x
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  • 2
    Electronic Resource
    Electronic Resource
    Introduction (1999)
    Springer
    Italian journal of neurological sciences 20 (1999), S. S227 
    Details
    ISSN: 1126-5442
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100729970001
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  • 3
    Electronic Resource
    Electronic Resource
    Presence of T-cell subset abnormalities in newly diagnosed cases of multiple sclerosis and relationship with short-term clinical activity (1993)
    Springer
    Journal of neurology 240 (1993), S. 79-82 
    Details
    ISSN: 1432-1459
    Keywords: Multiple sclerosis ; T-cell subsets
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Abnormalities of T-cell subsets in patients with multiple sclerosis are well known; in order to assess whether immunological abnormalities are relevant in the pathogenesis of the disease after its clinical onset, peripheral blood lymphocyte subsets (CD3+, CD4+, CD4+ CD45RA+, CD4+CD45RA−, CD8+, CD8+CD57+, CD57+, CD25+) were analysed serially in 25 patients at the first clinical episode suggestive of inflammatory demyelinating disease and in an equal number of age- and sex-matched controls. During the follow-up period (12–18 months, mean 14) 6 of 25 patients presented new relapses: in this subgroup of patients, significant changes in CD4+ ratio (% CD4+CD45RA−/%CD4+CD45RA−) were detected in comparison both with healthy controls and with clinically stable patients. Patients clinically stable at follow-up did not display immunological abnormalities, regardless of the presence or absence of cerebrospinal fluid and/or magnetic resonance imaging alterations consistent with multiple sclerosis. These findings suggest a possible prognostic role of early T-cell subset imbalance in multiple sclerosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00858721
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  • 4
    Electronic Resource
    Electronic Resource
    Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency (1993)
    Springer
    Journal of neurology 240 (1993), S. 272-277 
    Details
    ISSN: 1432-1459
    Keywords: Galactose-1-phosphate uridyl transferase deficiency ; Myopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An 8-year-old boy with galactose-1-phosphate uridyl transferase (GALT) deficiency presented with hypotonia, muscle hypotrophy, hepatomegaly, bilateral cataract and mild mental retardation. Two brothers showed a GALT activity consistent with a homozygotic condition and both parents were found to be heterozygotes for this defect. Histological and ultrastructural examination of muscle biopsy specimens showed several necrotic fibres. GALT activity was undetectable in skeletal muscle and muscle tissue cultures; myotubes converted galactose to CO2 at a lower rate than controls. Galactose-1-phosphate was increased in the patient's red cells and muscle tissue. GALT deficiency, not previously described in muscle, may be of pathogenic relevance in determining the myopathic features present in GALT deficiency syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00838160
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  • 5
    Electronic Resource
    Electronic Resource
    High serum creatine kinase levels associated with cylindrical spirals at muscle biopsy (1995)
    Springer
    Acta neuropathologica 90 (1995), S. 660-664 
    Details
    ISSN: 1432-0533
    Keywords: Key words High serum creatine kinase values ; Cylindrical spirals
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We studied the muscle biopsy from an asymptomatic patient with high serum creatine kinase values. Subsarcolemmal and intermyofibrillar granular inclusions were seen at the light microscopy level. Ultrastructural observation showed clusters of cylindrical spirals (CS). CS are a nonspecific, morphological finding, so far reported only in a few cases, presenting with a wide variety of clinical phenotypes. The case we describe is peculiar because of the complete lack of clinical symptoms. The nature of the CS is unknown; we studied a possible alteration of cytoskeletal proteins using a set of different antibodies against these structures, but none of them reacted with CS. Also, since CS have been described in association with mitochondrial abnormalities, and since in our case CS were strongly positive when stained for succinate dehydrogenase, we performed specific immunohistochemical and genetic studies which ruled out any major mitochondrial alterations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00318582
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  • 6
    Electronic Resource
    Electronic Resource
    High serum creatine kinase levels associated with cylindrical spirals at muscle biopsy (1995)
    Springer
    Acta neuropathologica 90 (1995), S. 660-664 
    Details
    ISSN: 1432-0533
    Keywords: High serum creatine kinase values ; Cylindrical spirals
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We studied the muscle biopsy from an asymptomatic patient with high serum creatine kinase values. Subsarcolemmal and intermyofibrillar granular inclusions were seen at the light microscopy level. Ultrastructural observation showed clusters of cylindrical spirals (CS). CS are a nonspecific, morphological finding, so far reported only in a few cases, presenting with a wide variety of clinical phenotypes. The case we describe is peculiar because of the complete lack of clinical symptoms. The nature of the CS is unknown; we studied a possible alteration of cytoskeletal proteins using a set of different antibodies against these structures, but none of them reacted with CS. Also, since CS have been described in association with mitochondrial abnormalities, and since in our case CS were strongly positive when stained for succinate dehydrogenase, we performed specific immunohistochemical and genetic studies which ruled out any major mitochondrial alterations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00318582
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  • 7
    Electronic Resource
    Electronic Resource
    Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level (1994)
    Springer
    Acta neuropathologica 87 (1994), S. 371-376 
    Details
    ISSN: 1432-0533
    Keywords: Key words: Mitochondrial myopathy – Ragged red fibers – In situ hybridization – Immunohistochemistry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. In situ hybridization combined with immunohistochemical techniques has been applied to study patients affected by mitochondrial myopathies with large mitochondrial (mt)DNA deletions. All patients' muscle biopsies showed ragged red fibers (RRFs) and cytochrome oxidase (COX) deficiency. Two digoxygenin-labeled, polymerase chain reaction (PCR)-amplified DNAs were used as probes. One probe was designed to hybridize only with wild-type mtDNAs, while the other recognized both wild-type and deleted mtDNAs. Concomitant immunocytochemical analysis using antibodies against subunits II, III (encoded by mtDNA), and IV (encoded by nuclear DNA) of COX was carried out. In our patients deleted mtDNAs are overexpressed in COX-negative RRFs, while wild-type mtDNAs are decreased in the same fibers. Immunohistochemistry studies show that COX IV is overexpressed in RRFs and that COX II and COX III subunits are still present. Deleted mtDNAs are spatially segregated in muscle fibers, where they interfere with the local population of normal mitochondrial genomes, causing a regional deficiency of the mitochondrial respiratory activity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00313606
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  • 8
    Electronic Resource
    Electronic Resource
    Sarcoglycan deficiency in a large Italian population of myopathic patients (1998)
    Springer
    Acta neuropathologica 96 (1998), S. 509-514 
    Details
    ISSN: 1432-0533
    Keywords: Key words Limb-girdle dystrophy ; Sarcoglycan ; complex ; Sarcoglycanopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Autosomal recessive limb-girdle muscular dystrophies are a heterogeneous group of genetic diseases with a wide spectrum of clinical severity and age of onset; mutations in the gene encoding the dystrophin-associated sarcoglycan proteins (α, β, γ and δ) have recently been shown to cause some cases of these myopathies (primary sarcoglycanopathies, types 2D, 2E, 2C and 2F, respectively). In this study we have examined a large population of Italian myopathic patients to determine the frequency of α-, β- and γ-sarcoglycan deficiency and to correlate molecular defects with clinical phenotypes; to exclude the presence of primary dystrophinopathies both genetic and immunological analysis of dystrophin was performed. We report 12 patients (10 male and 2 female) with deficiency of either one or more sarcoglycan proteins. They were aged 8–56 years with onset between 4 and 30 years of age; they all presented with either mild, moderate or severe limb-girdle involvement associated with elevated blood creatine kinase levels and myopathic pattern at EMG; one was also affected with a mild dilation cardiomyopathy. All patients, except one, showed pathological muscle histological changes. Absence of all three proteins always correlates with severe forms, whereas mild protein deficiencies or isolated partial α-sarcoglycan deficiency correlate with either severe, moderate or mild forms.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010050926
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  • 9
    Electronic Resource
    Electronic Resource
    Neurophysiological study of the effect of combined kidney and pancreas transplantation on diabetic neuropathy: a 2-year follow-up evaluation (1991)
    Springer
    Diabetologia 34 (1991), S. S103 
    Details
    ISSN: 1432-0428
    Keywords: Pancreas transplantation ; Kidney transplantation ; Diabetic neuropathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Previous study have reported a significant improvement of peripheral neuropathy following combined pancreas and kidney transplantation attributed to improvement of blood glucose control by some authors and to elimination of uraemia by others. To asses the specific role of uraemia and hyperglycaemia in neuropathy, 16 diabetic uraemic patients with combined pancreas and kidney transplantation were compared to 9 diabetic patients with a renal graft only. Neurophysiological studies of peripheral neuropathy included ulnar and deep peroneal nerve motor conduction velocity, median and sural nerve sensory conduction velocity were performed at baseline and 1 and 2 years after transplantation. One year after transplantation mean nerve conduction velocity significantly improved in both groups. However, changes were statistically significant in the kidney-pancreas group only. At the 2 year follow-up nerve conduction velocity had increased further in the pancreas-kidney group only. These data suggest that improvement of nerve conduction velocity following pancreas and kidney transplantation is predominantly due to the long-term euglycaemic state.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00587632
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  • 10
    Electronic Resource
    Electronic Resource
    Amelioration of nerve conduction velocity following simultaneous kidney/pancreas transplantation is due to the glycaemic control provided by the pancreas (1997)
    Springer
    Diabetologia 40 (1997), S. 1110-1112 
    Details
    ISSN: 1432-0428
    Keywords: Keywords IDDM ; diabetic polyneuropathy ; pancreas transplantation ; kidney transplantation ; metabolic control.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Diabetic polyneuropathy is a common, disabling chronic complication of diabetes mellitus. Previous studies have suggested that combined pancreas-kidney transplantation can ameliorate nerve conduction. The relative contribution of the correction of hyperglycaemia and uraemia on nerve function is still a matter of debate. Nerve conduction velocity (NCV) was assessed before and after simultaneous pancreas and kidney transplantation, and before and after pancreas graft failure in five insulin-dependent diabetic (IDDM) patients affected by severe diabetic polyneuropathy. Sensory and motor NCV were recorded in five nerves and expressed as a cumulative index for each patient. Metabolic control was evaluated by fasting blood glucose and glycosylated haemoglobin levels. NCV index was below normal values before transplant: –3.8 ± 0.7 (normal value: 0.89), improved 1 and 2 years after transplant: –3.1 ± 1.3 and –2.6 ± 0.9 (p = 0.0019), stabilised until pancreas failure and deteriorated to pre-transplant values 2 years after pancreas graft failure: –3.6 ± 1.0 (p = 0.034). Fasting blood glucose levels worsened after pancreas graft failure. HbA1 c levels, in the normal range during functioning pancreas graft (6.6 ± 0.6 %), deteriorated after its failure (8.0 ± 0.6 %, p = 0.04). Kidney function was preserved. These data support a positive effect of pancreas transplantation per se on NCV in IDDM subjects with diabetic polyneuropathy, thus demonstrating that metabolic control provided by a self-regulated source of insulin not only halts but also ameliorates nerve function, even if polyneuropathy is advanced. [Diabetologia (1997) 40: 1110–1112]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250050795
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