Role of peripheral quantitative computed tomography in identifying disuse osteoporosis in paraplegia

Objective: Disuse osteoporosis is a major long-term health consequence of spinal cord injury (SCI) that still needs to be addressed. Its management in SCI should begin with accurate diagnosis, followed by targeted treatments in the most vulnerable subgroups. We present data quantifying disuse osteoporosis in a cross-section of the Scottish paraplegic population to identify subgroups with lowest bone mineral density (BMD). Materials and Methods: Forty-seven people with chronic SCI at levels T2-L2 were scanned using peripheral Quantitative Computed Tomography (pQCT) at four tibial sites and two femoral sites, at the Queen Elizabeth National Spinal Injuries Unit, Glasgow (U.K.). At the distal epiphyses, trabecular BMD (BMDtrab), total BMD, total bone cross-sectional area (CSA), and bone mineral content (BMC) were determined. In the diaphyses, cortical BMD, total bone CSA, cortical CSA, and BMC were calculated. Bone, muscle and fat CSAs were estimated in the lower leg and thigh. Results: BMDtrab decreased exponentially with time since injury, at different rates in the tibia and femur. At most sites, female paraplegics had significantly lower BMC, total bone CSA and muscle CSA than male paraplegics. Subjects with lumbar SCI tended to have lower bone values and smaller muscle CSAs than in thoracic SCI. Conclusion: At the distal epiphyses of the tibia and femur, there is generally a rapid and extensive reduction in BMDtrab after SCI. Female subjects, and those with lumbar SCI, tend to have lower bone values than males or those with thoracic SCI, respectively. Keywords: Bone loss, osteoporosis, paraplegia, peripheral Quantitative Computed Tomography, spinal cord injur

Presence and distribution of the brown bear (Ursus arctos) in Friuli Venezia Giulia, from 2004 to 2011, through the non-invasive genetic monitoring ad conservation implications

After having disappeared at the beginning of 1900, the brown bear has started in a late 1960s a slow process of recolonization of the north-eastern Alps, through an expansion of Dinaric population. At the end of the 1990s the University of Udine began the occasional monitoring of the species and from 2004 non-invasive genetic monitoring became systematic. In the last 8 years 217 hair traps have been activated in the region to monitore: Natisone Valleys, the Julian and Carnic Alps and Prealps. Twenty-six hair traps were monitored in all years, whereas 40 were observed only in 2004, 2007 and 2011. The 26 hair traps constantly monitored from 2004 to 2011 showed 17% of average success of hair’s collecting (brown bear samples collected/day control: BBSD). The 40 hair traps, monitored in the window period, showed 12% of BBSD. The BBSD value varied in relation to both season (highest in spring) and year, with a dramatic decline from 2008, and interaction between year and area. From 2004, 13 genotypes, through systematic hair traps monitoring, were identified, while only 2 genotypes were sampled opportunistically. It was observed a high turnover of the genotypes: only 7 genotypes were sampled for more than 2 years (47% of total), 4 genotypes (27% of the total) were sampled for 3 years or more. The annual attendance of bear have been constant from 2004 to 2007, with 5-6 genotypes present every year. In the period between 2008 and 2010 there was a drastic decrease in the successful collection at the hair traps, with and average of 1-2 animals genotyped per year. However, opportunistic samples have increased in the recent times, probably due to the arrivals of 3 genotypes from Trentino (KJ2G2 in 2009 and DG2 and MJ4 in 2011). The year 2011 showed a further increase in the presence of bears with 5 animals genotyped in Friuli Venezia Giulia. Three of these animals belonged to the Slovenian population, while the other 2 genotypes were from the Trentino population. The results seem to confirm the exchange of some individuals between the Dinaric and central alpine population. As an example, the dinaric bear M5 was genotyped in Friuli Venezia Giulia in 2008 and then sampled in 2009 and captured in 2010 in Trentino and finally slot in Slovenia in 2011. The distribution in the alpine and prealpine areas has changed year by year: from the 2004 to 2007 the Natisone Valley and the Julian prealpine areas along the border with Slovenia were the areas more used, whilst from 2009 there was an apparent higher presence of bears in the Carnian Prealps and Alps, and in the Julian Alps. This shift could be due to human disturbance (i.e hunting management), control of the species carried out in neighbouring Slovenia, with a decreasing of immigrant from dinaric populations, and new immigration of bears from the central Alps. The present work has highlighted the necessity for a trans-regional and cross-border management of the species, especially in consideration to the population control applied in Slovenia, which seem to limit the Dinaric population expansion in the Alps, and furthermore the philopatry behaviour of bear females, which implies the absence of females in Friuli Venezia Giulia and induces a movement bach to Slovenia (at least 3 bears genotyped in Italy were shot in Slovenia). All these elements seem to exert important limitations to the consolidation and stabilization of the population of brown bears in north-eastern Alps. From the methodological point of view the protocol of systematic non-invasive genetic monitoring, shared at the trans-regional and trans-boundary level, is fundamental to monitore the dynamics and distribution of bear; the protocol should follow a systematic experimental design and should be integrated with a efficient opportunistic data collection

Spectroscopic ellipsometry study of the layer structure and impurity content in Er-doped nanocrystalline silicon thin films

Er doped nc-Si thin films have been investigated by spectroscopic ellipsometry (SE). The optical response of Er ions in a nc-Si/SiO matrix has been determined by SE, and it has been used to detect Er contents as low as 0.2 at%. The complex layered nanostructure of nc-Si:Er:O has been resolved and it has been found that it is strongly influenced by the Er-doping and the oxygen in-depth distribution profile. SE results are discussed in comparison with data obtained by the standard methods of the X-ray diffraction, Rutherford backscattering and Raman spectroscopy

Hybrid Equation/Agent-Based Model of Ischemia-Induced Hyperemia and Pressure Ulcer Formation Predicts Greater Propensity to Ulcerate in Subjects with Spinal Cord Injury

Pressure ulcers are costly and life-threatening complications for people with spinal cord injury (SCI). People with SCI also exhibit differential blood flow properties in non-ulcerated skin. We hypothesized that a computer simulation of the pressure ulcer formation process, informed by data regarding skin blood flow and reactive hyperemia in response to pressure, could provide insights into the pathogenesis and effective treatment of post-SCI pressure ulcers. Agent-Based Models (ABM) are useful in settings such as pressure ulcers, in which spatial realism is important. Ordinary Differential Equation-based (ODE) models are useful when modeling physiological phenomena such as reactive hyperemia. Accordingly, we constructed a hybrid model that combines ODEs related to blood flow along with an ABM of skin injury, inflammation, and ulcer formation. The relationship between pressure and the course of ulcer formation, as well as several other important characteristic patterns of pressure ulcer formation, was demonstrated in this model. The ODE portion of this model was calibrated to data related to blood flow following experimental pressure responses in non-injured human subjects or to data from people with SCI. This model predicted a higher propensity to form ulcers in response to pressure in people with SCI vs. non-injured control subjects, and thus may serve as novel diagnostic platform for post-SCI ulcer formation. © 2013 Solovyev et al

Updated distribution of Osmoderma eremita in Abruzzo (Italy) and agro-pastoral practices affecting its conservation (Coleoptera: Scarabaeidae)

New records of Osmoderma eremita (Scopoli, 1763) (Coleoptera: Scarabaeidae: Cetoniinae) are reported for Abruzzo (Italy), together with a review of its distribution in this region. O. eremita is a saproxylic beetle dependent on the presence of hollow deciduous trees with abundant wood mould in their cavities. The major threats for the species are habitat loss and fragmentation. EU Habitats Directive requests to the member States its protection and the monitoring of its conservation status. Detection of its occurrence is the first step to protect the species. The surveys have been carried out in ten sites of Abruzzo by using black cross-windows traps baited with specific pheromone. The species has been recorded for the first time in the Sant'Antonio forest and its presence is confirmed in the Peligna Valley, after a decade. The populations seem to be confined to small patches of suitable habitats. At local level, the abandonment of the pollarding practice (willow and beech forests) and the use of pollarded trees as biomass for fuel are the major threats for this species. Indeed some key actions, such as the protection of old hollow trees and the continuation of pollarding practice in rural landscape, could be key factors for the conservation strategies of the species in the study area

Transcriptomic and Epigenetic Regulation of Disuse Atrophy and the Return to Activity in Skeletal Muscle

Physical inactivity and disuse are major contributors to age-related muscle loss. Denervation of skeletal muscle has been previously used as a model with which to investigate muscle atrophy following disuse. Although gene regulatory networks that control skeletal muscle atrophy after denervation have been established, the transcriptome in response to the recovery of muscle after disuse and the associated epigenetic mechanisms that may function to modulate gene expression during skeletal muscle atrophy or recovery have yet to be investigated. We report that silencing the tibialis anterior muscle in rats with tetrodotoxin (TTX)—administered to the common peroneal nerve—resulted in reductions in muscle mass of 7, 29, and 51% with corresponding reductions in muscle fiber cross-sectional area of 18, 42, and 69% after 3, 7, and 14 d of TTX, respectively. Of importance, 7 d of recovery, during which rodents resumed habitual physical activity, restored muscle mass from a reduction of 51% after 14 d TTX to a reduction of only 24% compared with sham control. Returning muscle mass to levels observed at 7 d TTX administration (29% reduction). Transcriptome-wide analysis demonstrated that 3714 genes were differentially expressed across all conditions at a significance of P ≤ 0.001 after disuse-induced atrophy. Of interest, after 7 d of recovery, the expression of genes that were most changed during TTX had returned to that of the sham control. The 20 most differentially expressed genes after microarray analysis were identified across all conditions and were cross-referenced with the most frequently occurring differentially expressed genes between conditions. This gene subset included myogenin (MyoG), Hdac4, Ampd3, Trim63 (MuRF1), and acetylcholine receptor subunit α1 (Chrna1). Transcript expression of these genes and Fboxo32 (MAFbx), because of its previously identified role in disuse atrophy together with Trim63 (MuRF1), were confirmed by real-time quantitative RT-PCR, and DNA methylation of their promoter regions was analyzed by PCR and pyrosequencing. MyoG, Trim63 (MuRF1), Fbxo32 (MAFbx), and Chrna1 demonstrated significantly decreased DNA methylation at key time points after disuse-induced atrophy that corresponded with significantly increased gene expression. Of importance, after TTX cessation and 7 d of recovery, there was a marked increase in the DNA methylation profiles of Trim63 (MuRF1) and Chrna1 back to control levels. This also corresponded with the return of gene expression in the recovery group back to baseline expression observed in sham-operated controls. To our knowledge, this is the first study to demonstrate that skeletal muscle atrophy in response to disuse is accompanied by dynamic epigenetic modifications that are associated with alterations in gene expression, and that these epigenetic modifications and gene expression profiles are reversible after skeletal muscle returns to normal activity

Performance of SNP markers for parentage analysis in the Italian Alpine brown bear using non-invasive samples

Determination of parentage provides valuable information for the conservation of wild populations, for instance, by allowing the monitoring of breeding success and inbreeding. Between 1999 and 2002, nine brown bears (Ursus arctos) were translocated to augment the remnant population of a few surviving individuals in the Italian Alps, but only part of them reproduced, with a higher inbreeding risk occurrence in the long-time. Currently, in the Alpine population, parentage tests are assessed through the analysis of 15 microsatellite loci (STRs), but the reduction of genetic variability in future generations will need the use of additional informative markers. Single nucleotide polymorphisms (SNPs) have been proven to be useful and reliable in individual identification and family reconstruction; moreover, they can perform well on low-quality samples. In this study, we analysed 51 SNPs to generate a SNP multilocus genotype dataset of 54 Alpine brown bears (Ursus arctos) and compared its performance in parentage analysis with the validated STR dataset. We found that SNPs alone are not sufficient to determine parentage relationships, but the combination of SNPs and STRs provided unambiguous parentage assignments. The combined panel also performed better than STRs when true parents were not present in the dataset and, consequently, showed higher values of assignment probabilities

Obesity, Type 2 Diabetes and Bone in Adults.

In an increasingly obese and ageing population, type 2 diabetes (T2DM) and osteoporotic fracture are major public health concerns. Understanding how obesity and type 2 diabetes modulate fracture risk is important to identify and treat people at risk of fracture. Additionally, the study of the mechanisms of action of obesity and T2DM on bone has already offered insights that may be applicable to osteoporosis in the general population. Most available evidence indicates lower risk of proximal femur and vertebral fracture in obese adults. However the risk of some fractures (proximal humerus, femur and ankle) is higher, and a significant number fractures occur in obese people. BMI is positively associated with BMD and the mechanisms of this association in vivo may include increased loading, adipokines such as leptin, and higher aromatase activity. However, some fat depots could have negative effects on bone; cytokines from visceral fat are pro-resorptive and high intramuscular fat content is associated with poorer muscle function, attenuating loading effects and increasing falls risk. T2DM is also associated with higher bone mineral density (BMD), but increased overall and hip fracture risk. There are some similarities between bone in obesity and T2DM, but T2DM seems to have additional harmful effects and emerging evidence suggests that glycation of collagen may be an important factor. Higher BMD but higher fracture risk presents challenges in fracture prediction in obesity and T2DM. Dual energy X-ray absorptiometry underestimates risk, standard clinical risk factors may not capture all relevant information, and risk is under-recognised by clinicians. However, the limited available evidence suggests that osteoporosis treatment does reduce fracture risk in obesity and T2DM with generally similar efficacy to other patients

Phylogeographic structure of Italian Formica pratensis (Retzius 1783) populations in the framework of the species Eurasian range

The phylogeography and demographical history of Italian Formica pratensis populations were examined and compared with the Eurasian-wide dataset available for this species and the other red wood ant species Formica lugubris. Forty-eight workers belonging to eight populations from both Alps and Apennines were analysed sequencing a 1.5-kilobase mitochondrial DNA fragment, including the cytochrome b gene and part of the NADH dehydrogenase subunit 6 gene. A total of 127 sequences were screened, scoring 53 different haplotypes amongst all specimens, with five new haplotypes discovered in the Italian populations. All the Italian haplotypes clustered in a monophyletic clade, underlining a clear phylogeographical separation of this group from the other Eurasian groups and suggesting a glacial separate forest refugia and different post-glacial colonisation patterns. The haplotypes from the Alps and the Apennines showed a high genetic proximity, pointing out an ancient (Pleistocene) wide distribution of this species across all these areas and common ancestral lineages. No shared haplotypes were scored between Northern and Central Apennine populations, but the low inter-population genetic distance indicated similar post-glacial selective processes acting on these groups. The diversity we recorded may be influenced by the actual fragmentation of F. pratensis populations across its entire Eurasian range, and by the limited geographical origin and sample dimension of the dataset analysed. Future studies with a more extensive sampling in the Alps and Eastern Europe are needed to confirm our result

Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency

We describe a case of epileptic encephalopathy in a young woman with undiagnosed medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD), who presented with an early-onset focal motor status epilepticus (SE) then followed by permanent left hemiplegia and drug-resistant epilepsy with neurodevelopmental delay. Throughout her clinical history, recurrent episodes of lethargy, feeding difficulties, and clustering seizures occurred, progressing into a super refractory SE and death at the age of 25 years. Although epilepsy is not a distinctive feature of MCADD, we advise considering this metabolic disease as a possible etiology of epileptic encephalopathy and hemiconvulsion-hemiplegia-epilepsy syndrome of unknown origin, on the chance to provide a timely and targeted treatment preventing development delay and evolution to SE. Adult patients with epilepsy of unknown etiology not screened at birth for inborn errors of metabolism, such as MCADD, should be promptly investigated for these treatable conditions