14 research outputs found

    Gluten sensitivity and neurological manifestations

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    The authors report on six cases of gluten-sensitivity, also defined non-celiac gluten sensitivity, characterized by abdominal features (diarrhea, bloating, pain), genetic positivity for predisposition to celiac disease (DQB1* 02 in all cases; DQA1*05 in three; DQA1*02 in two, DQB1*03 in two), negative anti-t-Transglutaminase antibodies, normal mucosa on biopsy in four cases, type 1 of Marsh in one case. The subjects presented frequent central nervous system (CNS) symptoms: headache in three patients, somnolence in one, electroencephalogram aspecific alterations in three (in two of them with previous seizures), leptomeningeal cyst in one, intracranial calcification in one, cerebral gliosis in two. After a gluten-free diet, all intestinal and clinical CNS features remitted, but re-appeared after gluten reintroduction. On the basis of the neurological signs, the authors stress the relevance of immune innate system in the pathogenesis of these cases with possible subsequent evolution on immune adaptive system involvement

    Chiari I malformation, syringomyelia and papilledema: a malformative complex connected to oculo-auriculo-vertebral spectrum

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    The authors discuss the association of papilledema with Chiari I malformation (CMI) and syringomyelia on the basis of a clinical case studied by radiology, immunology and biochemistry methods. In the presence of normal haematology, blood immunology and biochemistry, clinical signs of headache and papilledema associated to hemifacial asymmetry, blind neck fistulas, malformed ears and spinal abnormalities (symptoms of oculo-auricolo- vertebral spectrum - OAVS), were observed. Magnetic resonance images and computed tomography demonstrated the occurrence of lowered cerebellar tonsils, but with values lower than those typical of the CMI syndrome and syringomyelia. The authors concluded for a minor form (benign ectopia) in the CMI syndrome, associated to papilledema and syringomyelia, and hypothesize an unique pathogenetic mechanism for this complex, connected to neural crest cell development and to OAVS, as extension of this spectrum. The authors underline the relevance of the facial/neck lateral signs for the diagnosis of OAVS associated to brain stem pathology and CMI

    Oculo-auriculo-vertebral spectrum associated to progressive external ophthalmoplegia. Biological, laboratory, electrophysiological and clinical aspects

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    The authors discuss about the relationships between oculoauriculo- vertebral spectrum (OAVS), a malformative condition affecting eyes, ears and vertebral structures mainly derived from neural crests, and autosomal dominant progressive external ophthalmoplegia (adPEO) – an electron transport chain disorder characterized by palpebral ptosis and muscular symptoms – on the basis of laboratory data and clinical signs in a case belonging to a family in which symptoms of both diseases occur. Hemifacial microsomia and ears abnormalities were the main neural crest cells (NCC) derived signs for OAVS diagnosis. Palpebral ptosis and the associated hyperlactacidemia with high Lactate to Pyruvate ratio were main signs for the suspicion of adPEO, but the diagnosis was proposed by clinical, biochemical, electrophysiological and genetic methods because the biopsy not always is diagnostic, as in our case. The association of two groups of symptoms (malformed, NCCrelated, and myopatic-electron transport related) in the same subject as observed in our case and partially in the family, may be ascribed to nuclear abnormalities and mitochondrial electron transport disorder, respectively, as well as to a possible common etiopathogenetic mechanism. In some cases of OAVS, the malformations may be consequent to oxidative phosphorilation disease (OXPHOS) derangement, as previously demonstrated; the extensive determination of lactacidemia may be important to address the research on OAVS patients in the mitochondrial/OXPHOS genetic domain, with advantage in the knowledge of OAVS pathogenesis

    Nerve growth factor in brain diseases

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    The nerve growth factor (NGF) belongs to a family of proteins termed neurotrophins, consisting of NGF, brain-derived neurotrophic factor (BDNF), neurotrophin-3 (NT-3), NT-4/5 and NT-6. Today, NGF is well recognized to mediate a large number of trophobiological actions resulting in neurotrophic, immunotrophic and/or metabotrophic effects. The pathobiology of neurodegenerative diseases, including Alzheimer disease, psychiatric disorders (e.g. depression and schizophrenia) and brain parasitic infections have in common the effect of altering the brain levels of neurotrophins and in particular NGF. The involvement of NGF and its TrkA receptor in these pathologies and the recent promising results of NGF therapies are presented and discussed

    The Changing Landscape for Stroke\ua0Prevention in AF: Findings From the GLORIA-AF Registry Phase 2

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    Background GLORIA-AF (Global Registry on Long-Term Oral Antithrombotic Treatment in Patients with Atrial Fibrillation) is a prospective, global registry program describing antithrombotic treatment patterns in patients with newly diagnosed nonvalvular atrial fibrillation at risk of stroke. Phase 2 began when dabigatran, the first non\u2013vitamin K antagonist oral anticoagulant (NOAC), became available. Objectives This study sought to describe phase 2 baseline data and compare these with the pre-NOAC era collected during phase 1. Methods During phase 2, 15,641 consenting patients were enrolled (November 2011 to December 2014); 15,092 were eligible. This pre-specified cross-sectional analysis describes eligible patients\u2019 baseline characteristics. Atrial fibrillation disease characteristics, medical outcomes, and concomitant diseases and medications were collected. Data were analyzed using descriptive statistics. Results Of the total patients, 45.5% were female; median age was 71 (interquartile range: 64, 78) years. Patients were from Europe (47.1%), North America (22.5%), Asia (20.3%), Latin America (6.0%), and the Middle East/Africa (4.0%). Most had high stroke risk (CHA2DS2-VASc [Congestive heart failure, Hypertension, Age  6575 years, Diabetes mellitus, previous Stroke, Vascular disease, Age 65 to 74 years, Sex category] score  652; 86.1%); 13.9% had moderate risk (CHA2DS2-VASc = 1). Overall, 79.9% received oral anticoagulants, of whom 47.6% received NOAC and 32.3% vitamin K antagonists (VKA); 12.1% received antiplatelet agents; 7.8% received no antithrombotic treatment. For comparison, the proportion of phase 1 patients (of N = 1,063 all eligible) prescribed VKA was 32.8%, acetylsalicylic acid 41.7%, and no therapy 20.2%. In Europe in phase 2, treatment with NOAC was more common than VKA (52.3% and 37.8%, respectively); 6.0% of patients received antiplatelet treatment; and 3.8% received no antithrombotic treatment. In North America, 52.1%, 26.2%, and 14.0% of patients received NOAC, VKA, and antiplatelet drugs, respectively; 7.5% received no antithrombotic treatment. NOAC use was less common in Asia (27.7%), where 27.5% of patients received VKA, 25.0% antiplatelet drugs, and 19.8% no antithrombotic treatment. Conclusions The baseline data from GLORIA-AF phase 2 demonstrate that in newly diagnosed nonvalvular atrial fibrillation patients, NOAC have been highly adopted into practice, becoming more frequently prescribed than VKA in Europe and North America. Worldwide, however, a large proportion of patients remain undertreated, particularly in Asia and North America. (Global Registry on Long-Term Oral Antithrombotic Treatment in Patients With Atrial Fibrillation [GLORIA-AF]; NCT01468701

    Comparison of PCR assays targeting the multi-copy targets B1 gene and 529 bp repetitive element for detection of Toxoplasma gondii in swine muscle

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    The comparison of the sensitivities of two molecular assays designed to target the multi-copy sequences of the Toxoplasma gondii genomic B1 region and 529 bp-RE respectively, in detecting T. gondii in swine muscle was assessed. Diaphragm pillars were obtained from 498 slaughtered pigs managed in intensive farms in Central Italy. Genomic DNA was extracted from the tissues and T. gondii-B1 and 529 bp-RE sequences were amplified by specific PCR protocols. Toxoplasma gondii DNA was detected in 165 samples (33.13%). There was a good correlation (κ = 0.77) between the results obtained targeting the two different genetic markers, however the 529 bp RE-PCR assay overall detected a significantly higher (P < 0.05) number of T. gondii-positive samples (150 samples) than the B1-PCR protocol (134). Our results show that: i) standardized B1 and 529 bp-RE PCRs applied to muscle tissues can detect a high rate of T. gondii-infection; ii) a multi-target PCR approach is recommended for the accurate diagnosis of infection in swine and can also be used in food testing

    Nerve growth factor in brain diseases

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    The nerve growth factor (NGF) belongs to a family of proteins termed neurotrophins, consisting of NGF, brain-derived neuro- trophic factor (BDNF), neurotrophin-3 (NT-3), NT-4/5 and NT-6. Today, NGF is well recognized to mediate a large number of trophobiological actions resulting in neurotrophic, immunotrophic and/or metabotrophic effects. The pathobiology of neurode- generative diseases, including Alzheimer disease, psychiatric disorders (e.g. depression and schizophrenia) and brain parasitic infection have in common the effect of altering the brain levels of neurotrophins and in particular NGF. The involvement of NGF and its TrkA receptor in these pathologies and the recent promising results of NGF therapies are presented and discussed

    MRI and muscle signal intensities in alcoholics compared with control subjects

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    Objective: To evaluate by magnetic resonance imaging (MRI) the difference in muscle signal intensities between alcoholics and control subjects. Methods: Thirty-four healthy subjects and 46 alcohol-dependent individuals were assessed. MRI was carried out using a low-field magnet (0.2 Tesla) and a limb-dedicated coil. The presence of muscle changes was evaluated by measuring signal intensities at the medial (MG) and lateral heads of the gastrocnemius muscle by T1-/T2-weighted and gradient-echo short tau inversion recovery sequences. The mean signal intensities of the two sample groups were compared by ANCOVA with age as a covariate. In the alcohol-dependent group, correlations between signal intensities and plasma levels of muscular and hepatic enzymes, in addition to years of high-risk consumption and lifetime dose of ethanol consumed, were assessed. The mean signal intensities were also compared with the different degrees of pain by ANOVA. Results: Compared with healthy subjects, the alcohol-dependent group had mean higher signal intensities in both gastrocnemius heads in all sequences. The difference in the MG in T2-weighted sequences was significant (F = 48.28,p < 0.01). A modest correlation between the years of high-risk consumption and the signal intensity was found in T2-weighted sequences in the MG (r = 0.288,p = 0.057), whereas a correlation with the lifetime dose consumed was not found. Significant correlations between signal intensities and plasma levels of muscular and hepatic enzymes were not found. There were also no significant group differences on different degrees of pain. Conclusion: MRI was shown to be a sensitive, well-tolerated, and inexpensive procedure capable of detecting changes in signal intensities in the muscles of alcoholics. This technique could be included among other diagnostic tools for alcoholic myopathy with further improvements and if the signal alterations can be corroborated by biopsy evidence

    Julius Schubring pioniere degli studi sulla topografia storica di Akragas

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    Julius Schubring (1839-1914) fu uno dei protagonisti della stagione di studi sulla Sicilia antica avviatasi dopo l'Unità d'Italia. Il contributo indaga questa figura di studioso, troppo presto dimenticata, che ebbe il merito di offrire alla comunità degli archeologi e degli antichisti in generale nuovi dati sui monumenti e la topografia antica della Sicilia, derivanti da un suo lungo soggiorno nell'isola dedicato ad una sistematica ricognizione delle testimonianze del passato. In particolare, si esamina il suo fondamentale contributo alla ricostruzione della topografia storica dell'antica Akragas attraverso l'opera "Historische Topographie von Akragas in Sicilien während der klassischen Zeit", apparsa nel 1870
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