Association study between four polymorphisms in the HFE,TF and TFR genes and Parkinson’s disease in Southern Italy

Neurological Sciences - Iron overload may lead to neurodegenerative disorders such as Parkinson’s disease (PD) and alterations of iron-related genes might be involved in the pathogenesis of...     

The effects of experimental sleep fragmentation on cognitive processing

ObjectiveThe primary objective of this study was to characterize the association between cyclic alternating pattern (CAP) and neurocognitive performance in a group of normal subjects before and after two nights of experimentally-induced sleep fragmentation.Subjects and methodsFifteen healthy subjects underwent one night of uninterrupted and two sequential nights of experimental sleep fragmentation achieved by auditory and mechanical stimuli. Eight subjects were re-examined using a similar paradigm with three nights of uninterrupted sleep. Sleep was polygraphically recorded and CAP analysis was performed for all recordings. A battery of neurocognitive tests was performed for spatial attention, inhibition of return, mental rotation, and Stroop color word test in the afternoon following the first and third night of sleep under fragmented and non-fragmented conditions.ResultsWith sleep fragmentation, the percentage of slow-wave sleep was dramatically reduced and there was a twofold increase in total CAP rate across all NREM sleep stages. Moreover, the number of all CAP A subtypes/hour of sleep (index) was significantly increased. Total CAP rate during the non-fragmented night correlated with reaction times. Similarly, the percentages of A1 and A3 subtypes were negatively and positively correlated with reaction times, respectively. Of the neurocognitive test battery, however, only values obtained from some subtests of the mental rotation test showed a significant improvement after sleep fragmentation.ConclusionsThe results of this study suggest that CAP A1 subtypes are associated with higher cognitive functioning, whereas CAP A3 subtypes are associated with lower cognitive functioning in young healthy subjects. The lack of cognitive functioning impairment after sleep fragmentation may be due to persistence and even enhancement of transient slow-wave activity contained in CAP A1 subtypes which also caused a significant enhancement of the EEG power spectrum in the lower frequencies.     

Leprosy: report of a case with severe peripheral neuropathy

Leprosy (Hansen’s disease) is a chronic granulomatous infectious disease, caused by Mycobacterium leprae, with cutaneous and neurological manifestations. Leprosy is very rare in Europe but some cases are reported, especially among people coming from endemic areas. Here, we report a case of Hansen’s disease and emphasize the importance of a prompt diagnosis and treatment also in non-endemic areas.     

How Texture-Inducing Contraction Vectors Affect the Fibrous Capsule Shrinkage Around Breasts Implants?

Background  

Breast augmentation was performed on nine female volunteer patients to determine the influence of three textured surfaces on fibrous capsule formation. The high degree of surface texture reduced the capsular fibrous tissue formation.     

Da Vinci System: clinical experience with complex proximal humerus fractures

The purpose of this study is to report the clinical and radiographic outcomes after open reduction and internal fixation of displaced proximal humerus fractures with the “Da Vinci System^®”. It is a triangle-shaped cage whose opposite faces are pierced, and it represents the evolution of a triangle-shaped bone block technique performed in a previous series of 33 patients. The new device is an interesting innovation to treat the difficult problem of fracture fragments reconstruction and stability, metaphyseal bone loss and proximal humerus revascularization. According to the technique, authors position the correct size titanium cage into the metaepiphysis, so that the fragments are reduced upon the cage, and they are stabilized with a minimal osteosynthesis by Kirschner wires, titanium screws or transosseous sutures. If the fracture line involves the proximal portion of the diaphysis, it is possible to use a short low profile plate. Between May 2005 and November 2009, we treated 71 patients (34 men and 37 women), even though we included in our study only 59 patients, who had a minimum follow-up of 12 months. The first patient has been treated in May 2005 and the last one in September 2008. The mean age was 60.8 years (minimum 27, maximum 78). There were 8 displaced 3-part fractures, 20 displaced 4-part fractures, 10 4-part fracture-dislocations, 5 head splitting, 12 unclassified multifragmentary fractures, 1 2-part fracture with multifragmentary calcar and 3 malunions of 4-part fracture. The functional results were evaluated by the Constant score. With a mean follow-up of 24 months (minimum 12, maximum 36 months), the mean Constant score was 80.25. The results were excellent or good in 48 cases, bad in 2 cases and satisfactory in 9; the mean active anterior elevation (AAE) was 160°. All fractures but one healed; in one case, we had a deep infection after 80 days since the operation, treated with a preformed cement spacer.     

Comparative biochemical and pharmacological characterization of a novel,NOP receptor selective hexapeptide,Ac-RYYRIR-ol

Nociceptin/orphanin FQ (N/OFQ) is an endogenous neuropeptide, which is widely distributed in central and peripheral nervous system. Some N/OFQ sequence unrelated hexapeptides can effectively bind to the N/OFQ peptide (NOP) receptor and they were used as template for structure-activity studies that lead to discovery of the new NOP selective ligands. In the present study, the pharmacological profile of the novel hexapeptide Ac-RYYRIR-ol was investigated using various in vitro assays including receptor binding and G-protein activation in rat brain membranes, mouse and rat vas deferens, guinea pig ileum, mouse colon and Ca²⁺ mobilization assay in chinese hamster ovary (CHO) cells co-expressing the human recombinant NOP receptor and the C-terminally modified Gα_qi5 protein. In rat brain membranes Ac-RYYRIR-ol displaced both [³H]nociceptin/OFQ and [³H]Ac-RYYRIK-ol with high affinity (pK_i 9.35 and 8.81, respectively) and stimulated [³⁵S]GTPγS binding showing however lower maximal effects than N/OFQ (α = 0.28). The stimulatory effect of Ac-RYYRIR-ol was antagonized by the selective NOP receptor antagonist UFP-101. In the electrically stimulated mouse vas deferens Ac-RYYRIR-ol displayed negligible agonist activity while antagonizing in a competitive manner (pA₂ 7.99) the inhibitory effects of N/OFQ. Similar results were obtained in the rat vas deferens. In the mouse colon Ac-RYYRIR-ol produced concentration dependent contractile effects with similar potency and maximal effects as N/OFQ. Finally, in the Ca²⁺ mobilization assay performed with CHO-hNOP-Gα_qi5 cells Ac-RYYRIR-ol displayed lower potency and maximal effects (α = 0.87) compared with N/OFQ. In conclusion, the novel NOP receptor selective hexapeptide Ac-RYYRIR-ol has been shown to have fine selectivity, high potency, furthermore agonist and antagonist effects toward the NOP receptors were measured in various assays; this is likely due to its partial agonist pharmacological activity.     

Magnetic-silica based nucleic acid extraction for Human Immunodeficiency Virus Type-1 drug-resistance testing in low viremic patients

Human Immunodeficiency Virus Type-1 (HIV-1) drug-resistance testing is challenging for viral loads below 1,000 copies/mL, but, according to HIV-1 guidelines, it should be considered for improving patient management and treatment options. High-recovery and high-purity extraction methods can enhance standard performances of HIV-1 genotyping assays based on direct full-population sequencing.Aim of the present study was to evaluate performances of the NucliSENS easyMAG (NeM) (BioMerieux, Marcy l’Etoile, F) semi-automated nucleic acid extraction system combined with the direct full-population sequencing ViroSeq HIV-1 genotyping (Abbott, IL, US), for detecting drug resistance in samples with HIV-1 RNA < 1,000 copies/mL (n = 62). Data were compared with those from the ViroSeq manual extraction in 86 samples with HIV-1 RNA < 1,000 copies/mL and studied on HIV-1 reference standards.HIV-1 genotyping was successful in 98% of samples extracted with NeM (61/62) and in 84% of those extracted with ViroSeq (72/86) (X² = 8.508, p = 0.004). HIV-1 RNA levels in samples successfully processed with NeM were significantly lower than those in manually processed ones (mean ± SD, respectively, 285 ± 222 copies/mL vs. 403 ± 269 copies/mL) (p = 0.004). For HIV-1 RNA levels <300 and 500 copies/mL, performances of HIV-1 genotyping with NeM were significantly high (97% and 98%, vs. 68% and 78% for manual extraction). As assessed on HIV-1 RNA reference standards, the detection rate at 200 copies/mL for HIV-1 genotyping with NeM extraction was 100%.In conclusion, these data support that HIV-1 direct full-population sequencing combined with NeM is associated with a significantly high success rate, thus improving the management of HIV-1 drug resistance in low viremic patients.