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Study design:This study was designed as an experimental study (trial).Objectives:To verify the effects of the association between conventional pharmacological treatment and osteopathic manipulative treatment (OMT) for chronic pain management in spinal cord injury (SCI).Setting:This study was carried out at Spinal Unit, Ospedale Niguarda Ca' Granda, Milan, Italy. Istituto Superiore di Osteopatia, Milan, Italy.Methods:We enrolled 47 patients with SCI, 26 with pain of both nociceptive and neuropathic origin, and 21 with pure neuropathic pain. In all, 33 patients had a complete spinal cord lesion (ASIA level A) and 14 had incomplete lesion (ASIA level B, C and D). The patients were subdivided in a pharmacological group (Ph), a pharmacological osteopathic (PhO) group and a osteopathic (Os) group. The verbal numeric scale (VNS) was used at various time intervals to evaluate treatment outcomes.Results:Ph patients reached a 24% improvement in their pain perception, assessed by the VNS scale after 3 weeks of treatment, whereas Os patients reached a 16% improvement in their pain perception for the same weeks. Both treatments per se failed to induce further improvements at later time points. In contrast, the combination of the two approaches yielded a significantly better pain relief both in patients with nociceptive or pure neuropathic pain in the PhO group.Conclusions:Our results suggest the OMT is a feasible approach in patients in whom available drugs cannot be used. Moreover, a benefit can be expected by the association of OMT in patients treated according to existing pharmacological protocols. [ABSTRACT FROM AUTHOR]

The frequency of dementia, the clinical characteristics and the pattern of cognitive impairment were studied in 147 unselected Parkinsonian patients. Twenty-one patients (14.28%) were judged to be demented. They had a more severe and widespread cognitive deficit although they were affected particularly in those tests that already discriminated Parkinsonian patients from controls. A direct comparison of Parkinsonian dementia with other types of dementia is needed to validate the concept of subcortical dementia. [ABSTRACT FROM AUTHOR]

The maintenance of genome integrity is ensured by proper chromosome inheritance during mitotic and meiotic cell divisions. The chromosomal counterpart responsible for chromosome segregation to daughter cells is the centromere, at which the spindle apparatus attaches through the kinetochore. Although all mammalian centromeres are primarily composed of megabase-long repetitive sequences, satellite-free human neocentromeres have been described. Neocentromeres and evolutionary new centromeres have revolutionized traditional knowledge about centromeres. Over the past 20 years, insights have been gained into their organization, but in spite of these advancements, the mechanisms underlying their formation and evolution are still unclear. Today, through modern and increasingly accessible genome editing and long-read sequencing techniques, research in this area is undergoing a sudden acceleration. In this article, we describe the primary sequence of a previously described human chromosome 3 neocentromere and observe its possible evolution and repair results after a chromosome breakage induced through CRISPR-Cas9 technologies. Our data represent an exciting advancement in the field of centromere/neocentromere evolution and chromosome stability., (© 2022. The Author(s).)

Background: Charcot-Marie-Tooth disease (CMT) type 4B3 (CMT4B3) is a rare form of genetic neuropathy associated with variants in the MTMR5/SBF1 gene. MTMR5/SBF1 is a pseudophosphatase predicted to regulate endo-lysosomal trafficking in tandem with other MTMRs. Although almost ubiquitously expressed, pathogenic variants primarily impact on the peripheral nervous system, corroborating the involvement of MTMR5/SBF1 and its molecular partners in Schwann cells-mediated myelinization., Case Presentation: We report a case of severe CMT4B3 characterized by early-onset motor and axonal polyneuropathy in an Italian child in absence of any evidence of brain and spine MRI abnormalities or intellectual disability and with a biochemical profile suggestive of mitochondrial disease. Using an integrated approach combining both NGS gene panels and WES analysis, we identified two novel compound heterozygous missense variants in MTMR5/SBF1 gene, p.R763H (c.2291G > A) and p.G1064E (c.3194G > A). Studies in muscle identified partial defects of oxidative metabolism., Conclusion: We describe the first case of an early onset severe polyneuropathy with motor and axonal involvement, due to recessive variants in the MTMR5/SBF1 gene, with no evidence of brain and spine MRI abnormalities, intellectual disability, no clinical and neurophysiological evidences of distal sensory impairment, and rapid neuromuscular deterioration. This report suggests that MTMR5/SBF1 should be considered in cases of infantile-onset CMT with secondary mitochondrial dysfunction.

The divergence of chimpanzee and bonobo provides one of the few examples of recent hominid speciation 1,2 . Here we describe a fully annotated, high-quality bonobo genome assembly, which was constructed without guidance from reference genomes by applying a multiplatform genomics approach. We generate a bonobo genome assembly in which more than 98% of genes are completely annotated and 99% of the gaps are closed, including the resolution of about half of the segmental duplications and almost all of the full-length mobile elements. We compare the bonobo genome to those of other great apes 1,3-5 and identify more than 5,569 fixed structural variants that specifically distinguish the bonobo and chimpanzee lineages. We focus on genes that have been lost, changed in structure or expanded in the last few million years of bonobo evolution. We produce a high-resolution map of incomplete lineage sorting and estimate that around 5.1% of the human genome is genetically closer to chimpanzee or bonobo and that more than 36.5% of the genome shows incomplete lineage sorting if we consider a deeper phylogeny including gorilla and orangutan. We also show that 26% of the segments of incomplete lineage sorting between human and chimpanzee or human and bonobo are non-randomly distributed and that genes within these clustered segments show significant excess of amino acid replacement compared to the rest of the genome.

Background: A retained surgical item in patients (gossypiboma) is a persisting problem, despite consistent improvements and existing guidelines in counting instruments and sponges. Previous experiences with radiofrequency identification technology (RFID) tracking sponges show that it could represent an innovation, in order to reduce the criticism and increase the effectiveness during surgical procedures. We present an automated system that allows reduction of errors and improves safety in the operating room., Methods: The system consists of 3 antennas, surgical sponges containing RFID tags, and dedicated software applications, with Wi-Fi real-time communication between devices. The first antenna provides the initial count of gauzes; the second a real-time counting during surgery, including the sponges thrown into the kick-bucket; and the third can be used in the event of uneven sponge count. The software allows management at all stages of the process., Results: In vitro and in vivo tests were performed: the system provided excellent results in detecting sponges in patients' body. Hundred percent retained sponges were detected correctly, even when they were overlapped. No false positive or false negative was recorded. The counting procedure turned out to be more streamlined and efficient and it could save time in a standard procedure., Conclusions: The RFID system for sponge tracking was shown to be experimentally a reliable and feasible method to track sponges with a full detection accuracy in the operating room. The results indicate the system to be safe and effective with acceptable cost-effective parameters.

Objectives: We explored the role of oxidative stress and inflammatory molecules as potential Parkinson (PD) biomarkers and correlated biological with non-motor abnormalities (olfactory impairment and dysautonomia), in patients with idiopathic REM behavior disorder (iRBD) (prodromal PD) and established PD., Methods: We recruited 11 iRBD and 15 patients with idiopathic PD (Hohen&Yahr 1-3, on L-DOPA and dopamine agonists combination therapy) and 12 age- and sex-matched controls (CTRL). We measured total olfactory score (TOS), autonomic function [deep breathing (DB), lying to standing (LS) and Valsalva manoeuvre (VM) ratios], blood reduced glutathione (Br-GSH), oxidative stress and inflammatory markers (neopterin)., Results: Anosmia was similarly prevalent in iRBD (36%) and PD (33%) patients, but absent in CTRL. Orthostatic hypotension was more common among iRBD (73%) and PD (60%) than in CTRL (25%). By univariable ordinal logistic regression, TOS, Br-GSH, LS and VM ratio worsened from CTRL to iRBD and PD groups. Only reduced Br-GSH levels (p=0.037, OR=0.994; 95%CI 0.988-1.000) were independently associated to PD. TOS correlated with Br-GSH (R=0.34, p=0.037), VM ratio (R=0.43, p=0.015), and neopterin (rho=0.39, p=0.016)., Conclusions: Reduced systemic antioxidant capacity is found in prodromal and overt PD and may represent, in association with olfactory loss and cardiovascular dysautonomia, a useful biomarker for an integrative, early diagnosis of PD., (Copyright © 2016 Elsevier B.V. All rights reserved.)

Objective: To identify correlations between clinical and neuroimaging features in sporadic chorea and to explicate the evolution of choreas of differing aetiologies., Methods: We analysed the clinical and neuroimaging data of 51 consecutive cases (17 males, 34 females; age 16-95 years) of sporadic chorea admitted to the neurology departments of two general hospitals from January 1994 to December 1999, and two neurological institutes from January 1997. Six months later the patients were reassessed clinically and those still with chorea (20 cases) were asked to undergo the genetic tests for Huntington's disease and dentatorubropallidoluysian atrophy., Results: There were 9 cases of focal dyskinesias, 18 of hemichorea, and 24 of generalised chorea; onset was acute in 17, subacute in 27, and insidious in seven. Analysis permitted classification as follows: vascular-related (21 cases); vasculitis (1 case); hypoxia (2 cases); drug-induced (7 cases); AIDS-related (5 cases), borreliosis (1 case); Sydenham's chorea (1 case); hyperglycaemia (2 cases); hyponatraemia (2 cases); Huntington's disease (HD) (5 cases) and acanthocytosis (1 case). In 3 patients neither etiological factors nor neuroradiological alterations were found., Conclusions: Although a convincing concordance between choreic signs and neuroradiological findings was possible in 4 patients only, it was possible to assign an aetiology in most cases with vascular related causes the most frequent and metabolic factors often participating. Huntington's disease is not unusual as a cause of sporadic choreas. HIV infection is an emerging cause of chorea and AIDS-related disease should be considered in young patients presenting without a family history of movement disorders. We emphasize the importance of follow-up to identify persistent chorea for which genetic testing is mandatory.

Two groups of subjects, 6 medicated Parkinson patients at an early stage of disease and affected by more marked right unilateral disorder and 12 normal elderly people, were examined on matching and naming olfactory tasks. On the former, subjects had to recognize among four previously sniffed odours, while on the latter they had to label an odour by choosing among four alternatives proposed by the examiner. Stimuli were administered to both nostrils. Analysis indicated that Parkinson patients were less efficient with the left nostril in the matching task, supporting the hypothesis of a larger compromise in the nostril contralateral to the side of the body more affected by the disease. Such a difference was not observed for the elderly people. Data are discussed with reference to the loss of dopamine in Parkinson patients.

The incidence of sporadic chorea among general hospital admissions is unknown, and the relation of clinical manifestations and etiological factors to neuroimaging findings has been little investigated in this condition. We reviewed the 7,829 cases admitted to the neurology departments of two general hospitals over 3.25 years and identified 23 (8 male and 15 female) cases of apparently sporadic chorea. Analysis of the records of these patients permitted etiological classification as follows: drug-induced chorea (5 patients), vascular chorea (6 patients), chorea-vasculitis (1 patient), Sydenham's chorea (1 patient), AIDS-related chorea (5 patients) and in 4 patients neither etiological factors nor neuroradiological alterations were found. Finally in 1 patient, the genetic test for Huntington's disease was positive. Thirteen patients had pathological neuroimaging findings; however, in only 3 were basal ganglia lesions considered to be the cause of the chorea. We conclude that sporadic chorea is not rare among neurological department admissions (we found 2.94 cases per 1,000 admissions) and only in a minority of cases is the symptomatology attributable to gross basal ganglia lesions; HIV infection is an emerging cause of chorea.

Seventy-nine patients with idiopathic Parkinson's disease in various phases of evolution of the clinical picture were studied. All the patients, already under treatment with L-dopa + PDI, were treated with (-)deprenyl at the dose of 10 mg/day orally in two daily administrations. The mean follow-up was 8.7 months (range, 1-29). Overall, 47.6% of the patients improved, 27.4% showed a marked improvement, 38.1% showed evident modifications, and 27.4% worsened. Sixteen patients were excluded from the study for various reasons. In 53.2% of the cases it was possible to reduce the daily L-dopa dose by a mean of 30%. Overall, (-)deprenyl was effective in the treatment of our parkinsonian patients in the various conditions evaluated, and thus constitutes a new therapeutic strategy for Parkinson's disease.

The pharmacological approaches to Parkinson's disease in the different phases of evolution (initial or slight, complete and complicated) are discussed. The modality of confronting the therapeutic approach according to the different evolutive phases makes it possible to personalize the therapy, in an attempt to obtain the optimal clinical effect with minimum side effects. Various drugs available and future perspectives are considered.