Settlement of a stable wolf pack in a highly anthropic area of Pisan hills: Relationship with animal husbandry and hunting in a human-wolf coexistence perspective.

Anthropic areas play a pivot role for main wolf conservation challenges. Wolf presence in the higher Pisan hills has been well documented while wolf settlement in the lower Pisan hills is still uncertain. In this study, long-term information on wolf presence in a highly anthropic area of the lower Pisan hills was collected by using non-invasive monitoring techniques.

Targeting virulence regulation to disarm pathogenesis.

The development of anti-virulence drug therapy against infections would provide an alternative to traditional antibacterial therapy that are increasingly failing. Here, we demonstrate that the OmpR transcriptional regulator plays a pivotal role in the pathogenesis of diverse clinical strains in multiple murine and invertebrate infection models. We identified OmpR-regulated genes using RNA sequencing and further validated two genes whose expression can be used as robust biomarker to quantify OmpR inhibition in .

The Role of OmpR in Bile Tolerance and Pathogenesis of Adherent-Invasive .

Gut microbiota dysbiosis toward adherent-invasive (AIEC) plays an important role in Crohn's disease (CD). The OmpR transcriptional regulator is required for the AIEC LF82 prototype strain to adhere and invade intestinal epithelial cells. In this study, we explored the role of OmpR in AIEC pathogenesis using a panel of eight strains isolated from CD patients and identified as AIEC.

In vitro activity of rifabutin against 293 contemporary carbapenem-resistant Acinetobacter baumannii clinical isolates and characterization of rifabutin mode of action and resistance mechanisms.

Background: Rifabutin, an oral drug approved to treat Mycobacterium avium infections, demonstrated potent activity against Acinetobacter baumannii in nutrient-limited medium enabled by rifabutin cellular uptake through the siderophore receptor FhuE.

Objectives: To determine rifabutin in vitro activity and resistance mechanisms in a large panel of A. baumannii isolates.

Dissecting Colistin Resistance Mechanisms in Extensively Drug-Resistant Acinetobacter baumannii Clinical Isolates.

Nosocomial infections with are a global problem in intensive care units with high mortality rates. Increasing resistance to first- and second-line antibiotics has forced the use of colistin as last-resort treatment, and increasing development of colistin resistance in has been reported. We evaluated the transcriptional regulator PmrA as potential drug target to restore colistin efficacy in Deletion of restored colistin susceptibility in 10 of the 12 extensively drug-resistant clinical isolates studied, indicating the importance of PmrA in the drug resistance phenotype.

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1.

Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of cerebellar degenerative disorders, characterized by progressive gait unsteadiness, hand incoordination, and dysarthria. Ataxia type 1 (SCA1) is caused by the expansion of a CAG trinucleotide repeat in the SCA1 gene resulting in the atypical extension of a polyglutamine (polyQ) tract within the ataxin-1 protein. Our main objective was to investigate the mitochondrial oxidative metabolism in the cerebellum of transgenic SCA1 mice.

Searching for an absolute kinetic scale of antioxidant activity against lipid peroxidation.

The inhibition properties of a number of antioxidants against peroxidation, started by a 2,2'-azobis[2-(2-imidazolin-2-yl)propane] radical initiator, of linoleic acid in sodium dodecyl sulfate micelles, have been determined in terms of oxygen consumption by a Clark electrode in an oxygen-tight cell. For the 31 antioxidants investigated at variable concentrations, the experimental results well fit the kinetic equation for competitive reactions. The ratio between the initial rates, monitored in the absence and in the presence of antioxidants, depends linearly on their concentration.

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

Aims: Pompe disease is an autosomal recessive lysosomal storage disorder resulting from deficiency of acid α-glucosidase (GAA) enzyme. Histopathological hallmarks in skeletal muscle tissue are fibre vacuolization and autophagy. Since 2006, enzyme replacement therapy (ERT) is the only approved treatment with human recombinant GAA alglucosidase alfa.

Genetic predisposition to breath-hold diving-induced hemoptysis: Preliminary study.

Introduction: Breath-hold diving-induced hemoptysis (BH-DIH) has been reported in about 25% breath-hold divers (BHD) and is characterized by dyspnea, coughing, hemoptysis and chest pain. We investigated whether eNOS G894T, eNOS T786C and ACE insertion/deletion I/D genetic variants, are possible BH-DIH risk factors.

Methods: 108 experienced healthy instructor BHDs with the same minimum requirements (102 male, six female; mean age 43.

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

Importance: The important depletion of mitochondrial DNA (mtDNA) and the general depression of mitochondrial respiratory chain complex levels (including complex II) have been confirmed, implying an increasing paucity of mitochondria in the muscle from patients with types I, II, and III spinal muscular atrophy (SMA-I, -II, and -III, respectively).

Objective: To investigate mitochondrial dysfunction in a large series of muscle biopsy samples from patients with SMA.

Design, Setting, And Participants: We studied quadriceps muscle samples from 24 patients with genetically documented SMA and paraspinal muscle samples from 3 patients with SMA-II undergoing surgery for scoliosis correction.

Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease.

Context: Bone fragility and low bone mass have been reported in small case series of patients with Pompe disease with severely reduced muscle strength or immobilization.

Objective: Our objective was to determine the prevalence of morphometric vertebral fractures and to evaluate bone mass in adults with late-onset Pompe disease.

Design: We conducted a multicenter cross-sectional observational study from August 2012 to December 2013.

Novel CLN3 mutation causing autophagic vacuolar myopathy.

Objective: To identify the genetic cause of a complex syndrome characterized by autophagic vacuolar myopathy (AVM), hypertrophic cardiomyopathy, pigmentary retinal degeneration, and epilepsy.

Methods: Clinical, pathologic, and genetic study.

Results: Two brothers presented with visual failure, seizures, and prominent cardiac involvement, but only mild cognitive impairment and no motor deterioration after 40 years of disease duration.

Mitochondrial changes in platelets are not related to those in skeletal muscle during human septic shock.

Platelets can serve as general markers of mitochondrial (dys)function during several human diseases. Whether this holds true even during sepsis is unknown. Using spectrophotometry, we measured mitochondrial respiratory chain biochemistry in platelets and triceps brachii muscle of thirty patients with septic shock (within 24 hours from admission to Intensive Care) and ten surgical controls (during surgery).

Postmortem microcomputed tomography (micro-CT) of small fetuses and hearts.

Objective: To assess the feasibility and utility of contrast-enhanced microcomputed tomography (micro-CT) for identifying structural anomalies in ex-vivo first- and second-trimester human fetuses and isolated fetal hearts.

Methods: Radiopaque iodine staining and micro-CT scanning protocols were first developed in rodent studies and then used to examine routinely fixed whole human fetuses (n = 7, weight 0.1-90 g, gestational age, 7-17 weeks) and isolated fetal hearts (n = 14, weight 0.

Null ABCA3 in humans: large homozygous ABCA3 deletion, correlation to clinical-pathological findings.

A study was undertaken to analyze the clinical presentation, pulmonary function, and pathological features in two female siblings with neonatal pulmonary surfactant metabolism dysfunction, type 3 (MIM 610921). The clinical records of the siblings were examined; the genes encoding surfactant protein B (SFTPB), surfactant protein C (SFTPC), and ATP-binding cassette transporter 3 protein (ABCA3) were analyzed with direct sequencing and Southern blotting. The infants were homozygous for a 5,983 bp deletion in ABCA3 including exons 2-5 as well as the start AUG codon and a putative Golgi exit signal motif.

POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome.

Background: POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-associated encephalopathy.

Case Presentation: We describe a 74 years old man carrying POLG1 mutations presenting with strokes, myopathy and ragged red fibers with some atypical aspects for MELAS such as late onset, lack of cerebral calcification and presence of frontal and occipital MRI lesions better consistent with the POLG associated-encephalopathy spectrum.

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients.

Limb-girdle muscular dystrophy (LGMD) 2L, caused by mutations in the anoctamin 5 (ANO5) gene, is the third most common LGMD in Northern and Central Europe, where the c.191dupA mutation causes the majority of cases. We evaluated data from 228 Italian LGMD patients to determine the prevalence of LGMD2L and the c.

Cooperative nucleophilic-electrophilic organocatalysis by ionic liquids.

The anionic and the cationic partners of ionic liquids may act cooperatively and independently as nucleophilic and electrophilic catalysts. This ambiphilic propensity was demonstrated by kinetically discriminating the contributions of the anion (nucleophilic catalyst) and of the cation (electrophilic catalyst) to the solvent-free Baylis-Hillman dimerization of cyclohexenone catalysed by ionic liquids.

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.

Leigh syndrome (LS) is an incurable, nearly always fatal, neurodegenerative, pediatric disorder that results from respiratory chain failure. The most common mitochondrial DNA (mtDNA) mutations that result in LS are m.8993T→C/G and m.

Metal-promoted synthesis of amidines containing the model nucleobases 1-methylcytosine and 9-methyladenine.

The amidine complexes cis-[L(2)PtNH==C(R){1-MeCy(-2H)}]NO(3) (R = Me, 1a; Ph, 1b, Me(3)C, 1c; Ph(2)(H)C, 1d) and cis-[L(2)PtNH==C(R){9-MeAd(-2H)}]NO(3) (R = Me, 2a; Ph, 2b; Me(3)C, 2c; Ph(2)(H)C, 2d), are formed when cis-[L(2)Pt(μ-OH)](2)(NO(3))(2) (L = PPh(3)) reacts with 1-methylcytosine (1-MeCy) and 9-methyladenine (9-MeAd) in solution of MeCN, PhCN, Me(3)CCN and Ph(2)(H)CCN. Reaction of 1a,b and 2a,b with HCl affords the protonated amidines [NH(2)==C(R){1-MeCy(-H)}]NO(3) (R = Me, 3a; Ph, 3b) and [NH(2)==C(R){9-MeAd(-H)}]NO(3) (R = Me, 4a; Ph, 4b) and cis-(PPh(3))(2)PtCl(2) in quantitative yield. Treatment of 3b and 4b with NaOH allows the isolation of the neutral benzimidamides NH(2)-C(Ph){1-MeCy(-2H)} (5b) and NH(2)-C(Ph){9-MeAd(-2H)} (6b).

Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.

Maintenance and replication of mitochondrial DNA require the concerted action of several factors encoded by nuclear genome. The mitochondrial helicase Twinkle is a key player of replisome machinery. Heterozygous mutations in its coding gene, PEO1, are associated with progressive external ophthalmoplegia (PEO) characterised by ptosis and ophthalmoparesis, with cytochrome c oxidase (COX)-deficient fibres, ragged-red fibres (RRF) and multiple mtDNA deletions in muscle.

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

Background: Duchenne and Becker Muscular dystrophies (DMD/BMD) are allelic disorders caused by mutations in the dystrophin gene, which encodes a sarcolemmal protein responsible for muscle integrity. Deletions and duplications account for approximately 75% of mutations in DMD and 85% in BMD. The implementation of techniques allowing complete gene sequencing has focused attention on small point mutations and other mechanisms underlying complex rearrangements.

The reaction of primary aromatic amines with alkylene carbonates for the selective synthesis of bis-N-(2-hydroxy)alkylanilines: the catalytic effect of phosphonium-based ionic liquids.

At T≥ 140 °C, different primary aromatic amines (pX-C(6)H(4)NH(2); X = H, OCH(3), CH(3), Cl) react with both ethylene- and propylene-carbonates to yield a chemoselective N-alkylation process: bis-N-(2-hydroxyalkyl)anilines [pX-C(6)H(4)N(CH(2)CH(R)OH)(2); R = H, CH(3)] are the major products and the competitive formation of carbamates is substantially ruled out. At 140 °C, under solventless conditions, the model reaction of aniline with ethylene carbonate goes to completion by simply mixing stoichiometric amounts of the reagents. However, a class of phosphonium ionic liquids (PILs) such as tetraalkylphosphonium halides and tosylates turn out to be active organocatalysts for both aniline and other primary aromatic amines.