Consistent skin α-synuclein positivity in REM sleep behavior disorder - A two center two-to-four-year follow-up study.

OBJECTIVE/METHODS: Phosphorylated alpha-synuclein (p-syn) in dermal nerves of patients with isolated REM sleep behavior disorder (iRBD) is detectable by immunofluorescence-labeling. Skin-biopsy-p-syn-positivity was recently postulated to be a prodromal marker of Parkinson's disease (PD) or related synucleinopathies. Here, we provide two-to four-year clinical and skin biopsy follow-up data of 33 iRBD patients, whose skin biopsy findings at baseline were reported in 2017. RESULTS: Follow-up biopsies were available from 25 patients (18 positive at baseline) and showed consistent findings over time in 24 patients. One patient converted from skin-biopsy-negativity to -positivity. P-syn-positivity was observed in iRBD patients who still had a normal FP-CIT-SPECT two years later. Clinically, five of the 23 at baseline skin-biopsy-positive patients (21.7%) had converted to PD or dementia with Lewy bodies at follow-up, but none of the skin-biopsy-negative patients. CONCLUSIONS: Dermal p-syn in iRBD is most probably an early consistent marker of synucleinopathy and may support other indicators of conversion to manifest disease state.

In-vivo signatures of neurodegeneration in isolated rapid eye movement sleep behaviour disorder.

BACKGROUND AND PURPOSE: Isolated rapid eye movement sleep behaviour disorder (iRBD) is a parasomnia, recently recognized as a risk factor for progression to Parkinson's disease, dementia with Lewy body and multiple system atrophy. Biomarker studies in iRBD are relevant due to lack of evidence in this condition. The identification of biomarkers able to predict progression to synucleinopathy diseases is critical for iRBD. Fluorodeoxyglucose-positron emission tomography (FDG-PET) imaging might provide information about ongoing neurodegenerative processes. In the present study, we tested for presence of brain hypometabolism patterns as biomarkers of neurodegeneration in single iRBD individuals. METHODS: We recruited 37 subjects with polysomnography-confirmed iRBD, with neuropsychological assessment and available FDG-PET scan. Images were analysed with a validated statistical parametric mapping procedure, providing individual hypometabolism maps. RESULTS: According to the neuropsychological evaluation, 22 subjects with iRBD had normal cognition and 15 subjects showed impairments, particularly in visuoperceptive/visuospatial and memory domains. One-fifth of the cases were impaired on the Qualitative Scoring of Pentagon Test. In 32 iRBD cases, FDG-PET statistical parametric maps revealed significant cerebral hypometabolism, namely in the occipital lobes (n = 5), occipital and cerebellar regions (n = 13), occipitoparietal regions (n = 13) and a selective cerebellar hypometabolism (n = 1). Five cases had normal FDG-PET scans. CONCLUSIONS: These imaging findings indicate that brain neurodegenerative processes are present and already detectable in iRBD. The different hypometabolism patterns in the single individuals may reflect specific early pathophysiological events due to the underlying synucleinopathy, with a specific neural vulnerability for the occipital cortex that might pre-date a risk of progression towards dementia with Lewy body.

Development of a two-dimensional dynamic model of the foot-ankle system exposed to vibration.

Workers in mining, mills, construction and some types of manufacturing are exposed to vibration that enters the body through the feet. Exposure to foot-transmitted vibration (FTV) is associated with an increased risk of developing vibration-induced white foot (VIWFt). VIWFt is a vascular and neurological condition of the lower limb, leading to blanching in the toes and numbness and tingling in the feet, which can be disabling for the worker. This paper presents a two-dimensional dynamic model describing the response of the foot-ankle system to vibration using four segments and eight Kelvin-Voigt models. The parameters of the model have been obtained by minimizing the quadratic reconstruction error between the experimental and numerical curves of the transmissibility and the apparent mass of participants standing in a neutral position. The average transmissibility at five locations on the foot has been optimized by minimizing the difference between experimental data and the model prediction between 10 and 100 Hz. The same procedure has been repeated to fit the apparent mass measured at the driving point in a frequency range between 2 and 20 Hz. Monte Carlo simulations were used to assess how the variability of the mass, stiffness and damping matrices affect the overall data dispersion. Results showed that the 7°-of-freedom model correctly described the transmissibility: the average transmissibility modulus error was 0.1. The error increased when fitting the transmissibility and apparent mass curves: the average modulus error was 0.3. However, the obtained values were reasonable with respect to the average inter-participant variability experimentally estimated at 0.52 for the modulus. Study results can contribute to the development of materials and equipment to attenuate FTV and, consequently, lower the risk of developing VIWFt.

Validation of the self-administered version of the international Restless Legs Syndrome study group severity rating scale - The sIRLS.

INTRODUCTION: The International Restless Legs Study Group (IRLSSG) has developed the IRLS (International Restless Legs Syndrome Severity Scale) and validated it as a clinician/researcher administered scale to be used when both patient and examiner are present. The IRLSSG recognized the need for a self-completing scale that can be used economically in clinical practice and in large population-based studies. In this study the validity and the reliability of the IRLS as a self-administered scale (sIRLS) is assessed. METHODS: Established RLS patients were recruited by eight centers in four countries and consented to participate in this study. The validity of the sIRLS was assessed by patients completing the sIRLS before a clinician administered the IRLS. The reliability of the sIRLS was assessed by patients completing the sIRLS again, two weeks after the first one, provided no change had occurred. RESULTS: Overall, 173 patients were recruited and 164 of them were included in the analyses. The sIRLS showed satisfactory scaling assumptions and no relevant floor or ceiling effect. One factor explained 61.3% of the variance. Cronbach's alpha was 0.93 and the item homogeneity index was 0.59. Intraclass correlation coefficient between the sIRLS and the IRLS was 0.94. The sIRLS standard error of measurement was 3.61 (½ SD at baseline = 4.11). The results mostly overlapped those of the IRLS analyzed in parallel. DISCUSSION: The sIRLS is a reliable, valid and precise instrument that showed tight association with the IRLS. These findings support the use of the sIRLS for self-evaluation of RLS severity. The responses obtained on the sIRLS and the IRLS scale varied slightly. Therefore, we recommend that either the sIRLS or the IRLS scale be used as the only scale for serial measures over time.

Investigating the population structure and genetic differentiation of livestock guard dog breeds.

Livestock guarding dogs are a valuable adjunct to the pastoral community. Having been traditionally selected for their working ability, they fulfil their function with minimal interaction or command from their human owners. In this study, the population structure and the genetic differentiation of three Italian livestock guardian breeds (Sila's Dog, Maremma and Abruzzese Sheepdog and Mannara's Dog) and three functionally and physically similar breeds (Cane Corso, Central Asian Shepherd Dog and Caucasian Shepherd Dog), totalling 179 dogs unrelated at the second generation, were investigated with 18 autosomal microsatellite markers. Values for the number of alleles per locus, observed and expected heterozygosity, Hardy-Weinberg Equilibrium, F stats, Nei's and Reynold's genetic distances, clustering and sub-population formation abilities and individual genetic structures were calculated. Our results show clear breed differentiation, whereby all the considered breeds show reasonable genetic variability despite small population sizes and variable selection schemes. These results provide meaningful data to stakeholders in specific breed and environmental conservation programmes.

¿El estudio radiográfico de senos paranasales es útil para confirmar el diagnóstico de sinusitis aguda? / Is the radiographic study of paranasal sinuses useful to confirm the diagnosis of acute sinusitis?

La sinusitis es una patología frecuente en la práctica clínica; se considera que entre un 5 y un 10 % de las infecciones de la vía aérea superior se complican con infección de los senos paranasales. Considerando que el promedio de las infecciones respiratorias anuales en los niños oscila entre los 6 y 8 episodios se estima que la incidencia de sinusitis es elevada, aunque difícil de precisar. Por cuestiones anatómicas y funcionales hay mayor incidencia de esta afección durante la infancia. Por sinusitis se entiende la inflamación de origen infeccioso de la mucosa de los senos paranasales, y su diagnóstico es clínico. METODOLOGÍA: Desde la exposición de un escenario clínico se planteó una pregunta estructurada para luego realizar una búsqueda bibliográfica con el fin de dar respuesta sobre la necesidad del uso de estudios radiográficos de los senos paranasales para el diagnóstico de la sinusitis aguda en niños. Se realizó búsqueda en PubMed utilizando los Mesh (Medical Subject Headings) "sinusitis AND radiography" y aplicando distintos filtros, tras lo cual se encontró sólo un meta-análisis y, consultado la bibliografía citada por éste, se hayo un único estudio específico para población pediátrica. ANÁLISIS DEL ARTÍCULO: El diseño del trabajo no es específico para un estudio de diagnóstico, por lo que para el análisis de la validez estadística del artículo debimos realizar un análisis secundario de los datos del mismo con el fin de definir los valores de sensibilidad, especificidad, valor predictivo positivo y valor predictivo negativo, con sus respectivos IC95%, a fin de aproximarnos a una conclusión más confiable. Dentro de estos resultados se obtuvo una sensibilidad del 76,04% con un intervalo de confianza del 95% (IC 95 %) de 66,61 - 83,47%, y una especificidad de 69,62% (IC 95% de 58,77-78,66%). RECOMENDACIÓN FINAL: Por lo tanto, no se recomienda realizar radiografías de senos paranasales en niños con episodios de sinusitis. El diagnóstico de sinusitis aguda en niños se hace sobre la base de criterios clínicos estrictos que describen signos, síntomas y patrones temporales de una infección de la vía respiratoria alta. (AU)

INTRODUCTION: Sinusitis is a frequent pathology in clinical practice. Between 5 and 10% of infections of the upper airway are complicated by acute sinusitis. Considering that the average annual catarrh in children ranges from 6 to 8 episodes, it is estimated that the incidence of sinusitis is high, although difficult to specify. There is a higher incidence of this condition in childhood for anatomical and functional reasons. The diagnosis of sinusitis, understood as infectious inflammation of the paranasal sinuses, is clinical. METHODOLOGY: Since the presentation of a clinical situation, a structured question was asked to perform a bibliographic search in order to answer the question about the need of radiographic studies for the diagnosis of acute sinusitis in children. A PubMed search was performed using the Mesh (Medical Subject Headings) "sinusitis AND radiography" and applying different filters, after which only a meta-analysis was found and, with reference to the bibliography cited by the latter, there was a single specific study for childhood. ANALYSIS OF THE ARTICLE: The work design is not specific to a diagnostic study. For the analysis of the statistical validity of the article, in order to approach a more reliable conclusion, we had to perform a secondary analysis of the data to define the values of sensitivity, specificity, positive predictive value and negative predictive value, with their respective 95% confidence interval (95%CI). As a result we obtained a sensitivity of 76,04% with a 95% CI of 66,61- 83,47%, and a specificity of 69.62% with a 95% CI of 58,77-78,66%. RECOMMENDATION: Therefore, it is not necessary to perform radiography imaging in children with episodes of clinical sinusitis. Acute sinusitis in children is a diagnosis that is made on the basis of stringent clinical criteria that describe signs, symptoms, and temporal patterns of an upper respiratory tract infection. (AU)

Genetic characterization of four native Italian shepherd dog breeds and analysis of their relationship to cosmopolitan dog breeds using microsatellite markers.

Very little research into genetic diversity of Italian native dog breeds has been carried out so far. In this study we aimed to estimate and compare the genetic diversity of four native Italian shepherd dog breeds: the Maremma, Bergamasco, Lupino del Gigante and Oropa shepherds. Therefore, some cosmopolitan dog breeds, which have been widely raised in Italy for a long time past, have also been considered to check possible influence of these dog populations on the Italian autochthonous breeds considered here. A total of 212 individuals, belonging to 10 different dog breeds, were sampled and genotyped using 18 autosomal microsatellite loci. We analyzed the genetic diversity of these breeds, within breed diversity, breed relationship and population structure. The 10 breeds considered in this study were clearly genetically differentiated from each other, regardless of current population sizes and the onset of separate breeding history. The level of genetic diversity explained 20% of the total genetic variation. The level of H E found here is in agreement with that found by other studies. The native Italian breeds showed generally higher genetic diversity compared with the long established, well-defined cosmopolitan dog breeds. As the Border Collie seems closer to the Italian breeds than the other cosmopolitan shepherd dogs considered here, a possible utilization of this breed to improve working performance in Italian traditional working shepherd dogs cannot be ignored. The data and information found here can be utilized in the organization of conservation programs planned to reduce inbreeding and to minimize loss of genetic variability.

Pigmented villonodular synovitis of temporomandibular joint: pathological aspects and surgical treatment.

Pigmented villonodular synovitis (PVNS) is an uncommon, benign, tumour-like disorder of unknown etiology affecting synovium-lined joints, tendon sheaths, and bursae. It results in proliferative, locally invasive lesions, usually presenting in monoarticular form in adults. PVNS rarely presents in the temporomandibular joint (TMJ). The treatment of choice is complete surgical excision of the lesion, followed by immediate reconstruction. We report a case of PVNS with masticatory space involvement, and focus on the pathological aspects and surgical treatment of the lesion.

REM Sleep Behavior Disorder (RBD) as a marker of neurodegenerative disorders.

Rapid eye movement (REM) sleep behavior disorder (RBD) can occur in the absence of any other obvious associated neurologic disorder or in association with a neurodegenerative disease, in which case it is considered as symptomatic RBD. RBD is frequently associated with Parkinson's disease (PD), Lewy body dementia or multiple system atrophy (MSA), and in several cases may even antedate the occurrence of motor symptoms by decades. When no neurologic disorder is obvious, RBD can be considered as idiopathic (iRBD). Several studies have looked at neurophysiologic and neuropsychological functions in iRBD and have found evidence of CNS dysfunction during both wakefulness and sleep in a variable proportion of these patients, challenging the concept of iRBD. Identifying subjects with a high risk of developing a neurodegenerative process may be crucial in order to develop early intervention strategies. Some prospective results in iRBD showed that potential markers of neurodegeneration are the following: 1) marked EEG slowing on spectral analysis; 2) decreased striatal 123I-FPCIT; 3) impaired color vision.

Effects of continuous positive airway pressure on cognitition and neuroimaging data in sleep apnea.

Obstructive sleep apnea (OSA) has been associated with a broad range of neurocognitive difficulties. The current view is that the neurocognitive impairment in OSA is due to the adverse effects of sleep fragmentation and/or intermittent hypoxia. The overall picture of cognitive deficits in OSA is complex. On balance, there appears to be negative effects of OSA on cognition, most likely in the domains of attention/vigilance, verbal and visual delayed long-term memory, visuospatial/constructional abilities, and executive dysfunction. Continuous positive airway pressure (CPAP) is the most effective and widely used treatment of OSA. In the majority of studies of OSA patients treated with CPAP, attention/vigilance improved, but changes in global functioning, executive functioning, and memory improved in about half of the studies. This may be due, in part, to variability in study design and sampling methodology across studies. Structural volume changes have been demonstrated in brain regions of OSA patients including areas that regulate memory and executive function (e.g., frontal cortex, anterior cingulate, and hippocampus). Growing evidence suggests that the OSA-related changes in brain morphology may improve with CPAP treatment. Neuroimaging studies performed during cognitive testing have provided insight into CPAP's effect on function of neuroanatomical circuits in the brain. Although neuroimaging can provide important insights into the structural and functional differences associated with OSA, one of the challenges is to interpret the findings in light of comorbid conditions that also cause neural injury. The purpose of this article is to provide a narrative review of the publications on cognition and neuroimaging in OSA before and after CPAP treatment.

Surgical access to condylar fractures in panfacial traumas.

AIM: Surgical access to the condyle in panfacial fractures is a delicate and debated issue. The aim of the study was to propose a protocol which would apply in the treatment of panfacial fractures requiring access to the condyles. METHODS: A case series of 10 patients (8 males and 2 females) with panfacial fractures consisting of 16 extracapsular mandibular condylar fractures associated with 3 symphyseal, 7 parasymphyseal, 1 mandibular angle, 6 Le Fort II, 3 orbitomaxillomalar, 5 zygomatic arch fractures were included in this study. Reduction and fixation were achieved using the mini-retromandibular access in 6 patients with 10 extracapsular condylar fractures while in 4 patients with 6 extracapsular condylar fractures access to the condyles consisted in a face-lift-type preauricular access, as a caudal extension of a coronal or hemicoronal incision required for the reduction and fixation of other fractures of the upper and middle thirds. RESULTS: A good morphological and functional outcome was achieved in all patients. No surgical complication associated with access to the condyles or treatment of the condylar fractures was registered. CONCLUSION: The proposed protocol could be used as a guide in choosing access to the condyles in panfacial traumas.

High levels of women's satisfaction and compliance with transdermal contraception: results from a European multinational, 6-month study.

OBJECTIVE: To investigate compliance, satisfaction, and preference in women using a transdermal contraceptive patch. METHODS: Women (18-46 years) from eight European countries used contraceptive patches (norelgestromin 6 mg, ethinylestradiol 600 µg) for six, 4-week treatment cycles. Compliance, satisfaction, and preference were assessed after 3 and 6 cycles and study completion using self-report methods. RESULTS: Of the 778 participants, 36.8% (n = 287) used no contraception at baseline. The most common methods were oral contraceptives (67.9%, n = 334) and barrier methods (21.5%, n = 106). Of oral contraception users, 63.5% (n = 212) were satisfied or very satisfied with their previous method, but compliance was poor with 77.8% (n = 260) reporting missed doses. After 3 and 6 cycles, >80% of all included women were satisfied or very satisfied with the patch. At study completion, most participants (73.7%) reported a preference for the patch compared to their previous method. Of 4107 cycles, 3718 (90.5%) were completed with perfect compliance. Two pregnancies occurred during this study, representing a Pearl Index of 0.63. No new safety issues were identified and the patch was well tolerated. CONCLUSION: Women were highly satisfied with transdermal contraception and preferred this form of family planning over their previous method. Transdermal contraception represents a valuable addition to contraceptive options with potential to offer high compliance and efficacy.

Lingual nerve lesion during ranula surgical treatment: case report.

Iatrogenic lingual nerve (LN) injuries are quite common in oral surgery both in maxillo-facial surgery and in oral surgery. LN runs superficially into the lateral mouth floor just beneath the mucous layer and this position enhances damage frequency. This article lists the different aetiologies of iatrogenic LN injuries and it almost focuses on lesions due to surgical treatment of ranulas. In the case report a LN lesion due to oral ranula excision is discussed; the patient experienced anaesthesia and hyperpatia in the corrisponded tongue side. It was treated with a microneurosugical anastomosis of LN, after amputation neuroma excision. The partial and definitive recovery of perception happened in six months and was deemed satisfying with 70% of functionality restored (results compared with the functionality of the contralateral side). An algorithm for diagnosis and therapy indication for iatrogenic injuries to nerves is also proposed. In case of surgical treatment, funcitonal recovery manifests after 4-6 month; a functional recovery of 70% of total nerve function is possible. The variable that most affects nerve functional recovery is surgical treatment timing; it must be performed as soon as possible.

Reconstruction of the anterior floor of the mouth using a peroneal perforator free flap. A case report.

Personal experience is presented concerning a case in which reconstruction of the anterior floor of the mouth was carried out using a fascio-cutaneous free flap harvested from the lateral part of the leg; the flap pedicle is represented by perforating vessels originating from the peroneal vascular axis.

Effect of lycopene on semen quality, fertility and native immunity of broiler breeder.

1. The effect of drinking water supplementation with lycopene on the semen quality, fertility and immunity of broiler breeders was evaluated. 2. Broiler breeder males were individually caged from 25 to 42 weeks old and divided into two group: L group, treated birds (lycopene 0.5 g/l) and C group, control birds. Laying hens were divided into two groups and artificially inseminated. 3. Semen variables were evaluated and daily fertility recorded. Serum bactericidal activity was tested. 4. Semen production and viability were affected by lycopene supplementation. Serum bactericidal activity was better in L than in C group. The fertility rate curve of the L group displayed a positive trend.

Gene expression of hepatic glucocorticoid receptor NR3C1 and correlation with plasmatic corticosterone in Italian chickens.

This study examined breed-specific stress-related hormonal and gene expression profiles in three Italian chicken breeds (Valdarnese Bianca, Bionda Piemontese, Robusta Maculata) reared in controlled conditions. Glucocorticoids work through the glucocorticoid receptor (GR), which modulates target genes transcription. We investigated breed-specific changes in corticosterone (ELISA) and GR expression. GR mRNA levels were analyzed using one-tube, two-temperature real-time PCR for absolute quantification of the gene expression by the standard curve method. Our results show high expression of GR in hepatic tissue. Significant effect of the breed was recorded for plasma corticosterone concentration: Valdarnese Bianca 3.35 ng/mL, Bionda Piemontese 1.73 ng/mL, Robusta Maculata 2.02 ng/mL. Breed specific gene expression has been recorded with a GR ranging from 1.12E+04 (Robusta Maculata) to 1.00E+05 (Bionda Piemontese) mRNA copy number/100 ng total RNA. Negative correlation was found between gene expression and blood corticosterone level.

Management of a case of arhinia.

Arhinia is a rare condition characterised by the congenital absence of nasal structures, with different patterns of presentation, and often associated with other craniofacial or somatic anomalies. To date, about 30 surviving cases have been reported. We report the case of a female patient aged 6 years, who underwent internal and external nose reconstruction using a staged procedure: a nasal airway was obtained through maxillary osteotomy and ostectomy, and lined with a local skin flap and split-thickness skin grafts; then the external nose was reconstructed with an expanded frontal flap, armed with an autogenous rib framework.

Use of porous polyethylene for correcting defects of temporal region following transposition of temporalis myofascial flap.

Transposition of the temporalis myofascial flap results in permanent aesthetic stigma in the donor site. Reconstruction of this deformity is desirable. The Authors present personal experience in the use of a porous polyethylene prosthesis to camouflage the temporal defects following transposition of the temporalis myofascial flap. From 2002 to 2005, 12 patients (5 male, 7 female, age range 36-84 years, mean 60), following the transposition of the temporalis myofascial flap, underwent reconstruction of the temporal region defect using porous high-density polyethylene temporal implants. The majority of the neoplasms removed proved to be squamous cell carcinomas of the alveolar crest or of the sinusal antrum. The standard surgical technique was used, namely, hemicoronal access and placement of 12 porous high-density polyethylene prostheses (5 left, 7 right). The size of the implants to be used (small, medium, large) was decided during the surgical operation. Of the 12 patients, 2 underwent post-operative radiotherapy, 6 weeks after the implantation of the prosthesis, without adopting any particular precautions to protect the area directly involved in the prosthesis implant. All patients are alive and free from disease, and implant placement appears to be free from post-operative complications. During the period of radiotherapy no complications. directly or indirectly related to the prosthetic implant, arose. Placement of the high-density polyethylene prosthesis fulfilled its filling effect on the deficit with a cosmetic success rate of 90%, as it was well integrated with no evident discontinuity between the edges of the prosthesis and the surrounding tissue or any alteration in the physiological convexity of the treated region. There were no incidents of pain or dysaesthesia of the skin covering the prosthesis. In conclusion, reconstruction of the temporal defect after temporalis myofascial flap transposition with the use of high-density polyethylene implants is an easy and safe method, with excellent functional and aesthetic results.