The anodic oxidation of 1-butyl-3-methylimidazolium tetrafluoroborate (BMIm-BF) efficiently generates BF from BF. This Lewis acid, strongly bound to the ionic liquids, can be efficiently used in classical BF-catalyzed reactions. We demonstrated the BF/BMIm-BF reactivity in four reactions, namely, a domino Friedel-Crafts/lactonization of phenols, the Povarov reaction, the Friedel-Crafts benzylation of anisole, and the multicomponent synthesis of tetrahydro-11-benzo[]xanthen-11-ones.
View Article and Find Full Text PDFThe engineering of catalysts with desirable properties can be accelerated by computer-aided design. To achieve this aim, features of molecular catalysts can be condensed into numerical descriptors that can then be used to correlate reactivity and structure. Based on such descriptors, we have introduced topographic steric maps that provide a three-dimensional image of the catalytic pocket-the region of the catalyst where the substrate binds and reacts-enabling it to be visualized and also reshaped by changing various parameters.
View Article and Find Full Text PDFBackground: Next-generation sequencing (NGS) technologies have revolutionarily reshaped the landscape of '-omics' research areas. They produce a plethora of information requiring specific knowledge in sample preparation, analysis and characterization. Additionally, expertise and competencies are required when using bioinformatics tools and methods for efficient analysis, interpretation, and visualization of data.
View Article and Find Full Text PDFCorrectly scoring protein-protein docking models to single out native-like ones is an open challenge. It is also an object of assessment in CAPRI (Critical Assessment of PRedicted Interactions), the community-wide blind docking experiment. We introduced in the field the first pure consensus method, CONSRANK, which ranks models based on their ability to match the most conserved contacts in the ensemble they belong to.
View Article and Find Full Text PDFSummary: Herein, we present CONSRANK, a web tool for analyzing, comparing and ranking protein-protein and protein-nucleic acid docking models, based on the conservation of inter-residue contacts and its visualization in 2D and 3D interactive contact maps.
Availability And Implementation: CONSRANK is accessible as a public web tool at https://www.molnac.
The authors report on a case of incomplete atrio-ventricular block in a patient on pregabalin therapy. Pregabalin was not overdosed; renal function of the patient was normal. The effect reverted after pregabalin discontinuation.
View Article and Find Full Text PDFA 65-year-old man was referred to our clinic for the rehabilitation of right hemiparesis caused by ischaemic stroke. Hypertension, postphlebitic syndrome of lower limbs, frequent nose bleeding, and anemia were present in his history; in his adolescence, he was treated for idiopathic hypogonadotropic hypogonadism. Further investigations have revealed also microsomia, suggesting a clinical diagnosis of Kallmann syndrome, that is, an association, possible in males and females, of hypogonadotropic hypogonadism with olfactory deficits.
View Article and Find Full Text PDFAlthough the micronutrient deficiencies and the related neurological manifestations are widely reported after malabsorbitive weight loss surgery, little is known about cerebral dysfunction secondary to micronutrient impairment in subjects undergoing restrictive interventions (that is, sleeve gastrectomy). We describe a case of a 27-year-old woman with a late development of a Wernicke's encephalopathy (WE) and of severe polyneuropathy following a sleeve gastrectomy without any sleeve stenosis. The impact of WE after bariatric surgery is significantly underestimated.
View Article and Find Full Text PDFSummary: Herein we present COCOMAPS, a novel tool for analyzing, visualizing and comparing the interface in protein-protein and protein-nucleic acids complexes. COCOMAPS combines traditional analyses and 3D visualization of the interface with the effectiveness of intermolecular contact maps.
Availability: COCOMAPS is accessible as a public web tool at http://www.
The authors report a case of valproate-induced hyperammononemic encefalopathy whose initial clinical features were represented by increase of pre-existing disturbed-aggressive behaviour.
View Article and Find Full Text PDFThe identification of predictive factors of NAbs development might have a relevant impact on clinical practice. Our objective is to look after predictive factors of NAbs development in MS IFN Beta-1b-treated patients. Database was screened for patients on IFN Beta-1b treatment with an Expanded Disability Status Scale (EDSS) at a baseline between 1 and 3.
View Article and Find Full Text PDFAuthors describe a case of neutropenia induced by ticlopidine. Attention must be taken for this case because the adverse effects of the drug usually occur within the first three months since the start of the therapy; instead, in our case the neutropenia occurred about 18 months.
View Article and Find Full Text PDFAtaxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive neurodegenerative disease, recently associated with mutations in the aprataxin gene. Main features are early onset cerebellar ataxia, oculomotor apraxia and peripheral neuropathy. The presence of choreoathetosis or dystonia in some patients suggests basal ganglia involvement, but these structures appear preserved in a single case in which neuropathological examination was performed.
View Article and Find Full Text PDFWe studied 20 Mediterranean families (40 patients) with autosomal recessive hereditary spastic paraplegia and thin corpus callosum (ARHSP-TCC, MIM 604360) to characterize their clinical and genetic features. In six families (17 patients) of Algerian Italian, Moroccan, and Portuguese ancestry, we found data consistent with linkage to the SPG11 locus on chromosome 15q13-15, whereas, in four families (nine patients of Italian, French, and Portuguese ancestry) linkage to the SPG11 locus could firmly be excluded, reinforcing the notion that ARHSP-TCC is genetically heterogeneous. Patients from linked and unlinked families could not be distinguished on the basis of clinical features alone.
View Article and Find Full Text PDFFew trials issued the effect of disease-modifying medications on cognitive functions in multiple sclerosis. We designed an open-label longitudinal study to evaluate, during 2 years, cognitive performance and its relationship with MRI data and ApoE polymorphism findings in a group of relapsing-remitting (RR) multiple sclerosis (MS) Interferon (IFN) beta-1b-treated patients (median age 30 years, median disease duration 3.4 years).
View Article and Find Full Text PDFAn adult Caucasian female developed a previously unreported association of pelvic endometriosis (PE) with the triad of alopecia universalis (AU), autoimmune thyroiditis (AT) and multiple sclerosis (MS). Molecular human leukocyte antigen (HLA)-tissue typing of this subject showed the presence of the DR(2) 15 and DR(3) 17 alleles, which are associated to an increased risk of MS and AT, respectively. Clinical onset of AT followed withdrawal of corticosteroid treatment for AU, whereas MS become clinically evident after withdrawal from long-term estroprogestin therapy for PE.
View Article and Find Full Text PDFPantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal-recessive disorder caused by mutations in the PANK2 gene. The authors report clinical and genetic findings of 16 patients with PKAN. The authors identified 12 mutations in the PANK2 gene, five of which were new.
View Article and Find Full Text PDFWe set up a new denaturing high-performance liquid chromatography (DHPLC)-based protocol to screen patients with autosomal dominant hereditary spastic paraplegia (AD-HSP) for mutations in SPG4. Six patients had a complicated form and 49 a pure HSP phenotype. We also analyzed 19 unrelated patients presenting with an HSP phenotype (pure in 17 and complicated in two subjects) but no clear family history, as such patients may be cases of dominant inheritance with low penetrance.
View Article and Find Full Text PDFWe describe two couples of sibs from a southern Italian family affected by epilepsy, myoclonus, mental retardation and slight ataxia. Onset was between 4 and 12 years and the course slowly progressive. The clinical picture suggested the diagnosis of Unverricht-Lundborg disease.
View Article and Find Full Text PDFMutations in the SPG3A gene cause a form of pure, early-onset autosomal dominant hereditary spastic paraplegia linked to chromosome 14q. The encoded protein, atlastin, is a putative member of the dynamin superfamily of large GTPases involved in cellular trafficking patterns. We report a new atlastin mutation causing spastic paraplegia in association with axonal neuropathy in an Italian family.
View Article and Find Full Text PDFAtaxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disorder characterized by early-onset cerebellar ataxia, oculomotor apraxia, and peripheral neuropathy. The causative gene (APTX) has been recently identified in Portuguese and Japanese kindreds. Three patients with AOA1 were identified in an APTX mutation screening on 28 Southern Italian patients with progressive ataxia and peripheral neuropathy.
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