Cerebral amyloid load determination in a clinical setting: interpretation of amyloid biomarker discordances aided by tau and neurodegeneration measurements

Neurological Sciences - Alzheimer’s disease (AD) diagnosis can be hindered by amyloid biomarkers discordances. We aim to interpret discordances between amyloid positron emission tomography...     

Carotid revascularization and cognitive impairment: the neglected role of cerebral small vessel disease

Neurological Sciences - Carotid atherosclerosis is a pathological process that leads to narrowing of the vessel lumen and a consequent risk of stroke. Revascularization procedures such as carotid...     

Episodic long-term memory in post-infectious SARS-CoV-2 patients

Neurological Sciences - Episodic long-term memory (LTM) difficulties/deficits are frequent in COVID-19-recovered patients and negatively impact on prognosis and outcome. However, little is known...     

Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism

The cyclic adenosine monophosphate (cAMP) intracellular signaling pathway mediates the physiological effects of several hormones and neurotransmitters, acting by the activation of G‐protein coupled receptors (GPCRs) and several downstream intracellular effectors, including the heterotrimeric stimulatory G‐protein (Gs), the cAMP‐dependent protein kinase A (PKA), and cAMP‐specific phosphodiesterases (PDEs). Defective G‐protein–mediated signaling has been associated with an increasing number of disorders, including Albright hereditary osteodistrophy (AHO) and pseudohypoparathyroidism (PHP), a heterogeneous group of rare genetic metabolic disorders resulting from molecular defects at the GNAS locus. Moreover, mutations in PRKAR1A and PDE4D genes have been recently detected in patients with acrodysostosis (ACRDYS), showing a skeletal and endocrinological phenotype partially overlapping with AHO/PHP. Despite the high detection rate of molecular defects by currently available molecular approaches, about 30% of AHO/PHP patients still lack a molecular diagnosis, hence the need to screen patients negative for GNAS epi/genetic defects also for chromosomal regions and genes associated with diseases that undergo differential diagnosis with PHP. According to the growing knowledge on Gsα‐cAMP signaling‐linked disorders, we investigated our series of patients (n = 81) with a clinical diagnosis of PHP/AHO but negative for GNAS anomalies for the presence of novel genetic variants at PRKAR1A and PDE4D genes. Our work allowed the detection of 8 novel missense variants affecting genes so far associated with ACRDYS in 9 patients. Our data further confirm the molecular and clinical overlap among these disorders. We present the data collected from a large series of patients and a brief review of the literature in order to compare our findings with already published data; to look for PRKAR1A/PDE4D mutation spectrum, recurrent mutations, and mutation hot spots; and to identify specific clinical features associated with ACRDYS that deserve surveillance during follow‐up. © 2016 American Society for Bone and Mineral Research.     

Rehabilitative intervention during and after pediatric hematopoietic stem cell transplantation: An analysis of the existing literature

Hematopoietic stem cell transplantation is a therapeutic strategy for several oncohematological diseases. It increases survival rates but leads to a high incidence of related effects. The objective of this paper was to examine the existing literature on physical exercise interventions among pediatric HSCT recipients to explore the most often utilized rehabilitative assessment and treatment tools. Studies published from 2002 to April 1, 2015 were selected: 10 studies were included. A previous literary review has shown that rehabilitation programs have a positive impact on quality of life. Our analysis identified some significant outcome variables and shared intervention areas.     

Pitch Discrimination in Musicians and Non-Musicians: Effects of Harmonic Resolvability and Processing Effort

Musicians typically show enhanced pitch discrimination abilities compared to non-musicians. The present study investigated this perceptual enhancement behaviorally and objectively for resolved and unresolved complex tones to clarify whether the enhanced performance in musicians can be ascribed to increased peripheral frequency selectivity and/or to a different processing effort in performing the task. In a first experiment, pitch discrimination thresholds were obtained for harmonic complex tones with fundamental frequencies (F0s) between 100 and 500 Hz, filtered in either a low- or a high-frequency region, leading to variations in the resolvability of audible harmonics. The results showed that pitch discrimination performance in musicians was enhanced for resolved and unresolved complexes to a similar extent. Additionally, the harmonics became resolved at a similar F0 in musicians and non-musicians, suggesting similar peripheral frequency selectivity in the two groups of listeners. In a follow-up experiment, listeners’ pupil dilations were measured as an indicator of the required effort in performing the same pitch discrimination task for conditions of varying resolvability and task difficulty. Pupillometry responses indicated a lower processing effort in the musicians versus the non-musicians, although the processing demand imposed by the pitch discrimination task was individually adjusted according to the behavioral thresholds. Overall, these findings indicate that the enhanced pitch discrimination abilities in musicians are unlikely to be related to higher peripheral frequency selectivity and may suggest an enhanced pitch representation at more central stages of the auditory system in musically trained listeners.     

Body composition and resting metabolic rate of perimenopausal women using continuous progestogen contraception

Objective The effect on body composition and in particular on fat mass (FM) of 12 months’ use of a desogestrel (DSG)-only contraceptive pill or the levonorgestrel-releasing intrauterine system (LNG-IUS) was evaluated in women in the perimenopause.

Methods An observational study comprised 102 perimenopausal women: 42 received a 75 μg DSG pill, 34 received the 52 mg LNG-IUS, and 26 received no treatment. Body composition, body weight and resting metabolic rate (RMR) were evaluated at baseline and again after 12 months.

Results FM did not change in the control group (? 0.5 ± 1.6%) but significantly increased in the LNG-IUS group (+ 1.1 ± 2.9%; p = 0.02 vs. controls) and in the DSG group (+ 2.8 ± 3.5%; p = 0.0001 vs. controls; p = 0.02 vs. LNG-IUS). Women treated with DSG or the LNG-IUS showed a non-significant increase in body weight, body mass index and waist circumference. RMR did not significantly vary in the control group (? 3.8 ± 292.9 kJ/ 24 h) and tended to decrease but not significantly in the LNG-IUS (115.5 ± 531.8 kJ/ 24 h) and DSG groups (305.9 ± 556.9 kJ/24 h).

Conclusions The results of this preliminary study seem to indicate that in perimenopausal women continuous use of the DSG-only pill and to a lesser extent the LNG-IUS may favour FM accumulation.     

An unusual case of neurothekeoma of the arm in an adult

Neurothekeomas are uncommon benign neoplasms with a peripheral nerve sheath origin. This tumor usually involves dermis and is described as a small, solitary, slow growing and reddish to flesh-colored nodule or papule. Neurothekeoma preferentially affects the central aspect of the face, the arms or shoulders of women in the second and third decades of life. This is the first case report of neurothekeoma involving the wrist developing from synovial tissue and with uncertain clinical behavior in an adult female. The tumor was completely excised under brachial plexus block. Histopathologically, the examination of the microscopic slides revealed the presence of a 20-mm diameter, well-circumscribed and multilobulated tumor composed of abundant myxoid stroma with cellular elements; with immunohistochemistry there was positivity to vimentin but S100-protein, epithelial membrane antigen, cytokeratin AE1-3, CD99 and CD34 were all negative. This pattern suggested a myxoid tumor form of neurothekeoma, mixed subtype. The patient had an atypical local recurrence and was re-operated after 3 months. After 12 months there was no evidence of clinical recurrences confirmed by magnetic resonance evaluation. Basically, our case report adds an important element in the correct clinical management of neurotecheomas: faced with a histological diagnosis with an unusual localization and mixed or hypercellular type, clinicians must consider the possibility of an early local recurrence, suggesting a close clinical and radiological follow-up.     

Effect of air-drying temperature on the effectiveness of silane primers and coupling blends in the repair of a microhybrid resin composite

PURPOSE: To evaluate the effect of different silane agents and air-drying temperatures on the repair strength of a microfilled hybrid composite. MATERIALS AND METHODS: Composite cylinders (8 x 4 mm) of Gradia Direct Anterior (GC, N=36), stored in a saline solution at 37 degrees C for 1 month, were sandblasted (50-microm aluminium oxide), cleaned (35% phosphoric acid) and randomly divided into six groups (n=6). Two prehydrolyzed silane primers (Monobond-S, Ivoclar-Vivadent, Porcelain Primer, Bisco), a non prehydrolyzed silane primer (Porcelain Liner M, Sun Medical) and three silane/adhesive coupling agents (Porcelain Bond Activator-PBA/Clearfil New Bond, PBA/Clearfil SE Bond, PBA/Clearfil Tri-S Bond, Kuraray) were investigated. Silane-coated surfaces were air dried at two different temperatures (23 degrees C and 38 degrees C) and repairs (8 x 8 mm) were fabricated (Gradia Direct Anterior). Unrepaired composite cylinders (8 x 8 mm, n=6) were used as control to evaluate the cohesive strength of the material. Microtensile bond strength measurements (microTBS) were performed. Results: The silane agent applied (p < 0.001), the airdrying temperature (p < 0.001) and their interaction (p < 0.001) were significant factors (two-way ANOVA, Tukey test; p < 0.05). Silane primers achieved inferior microTBS when air dried at 23 degrees C as compared to silane/adhesive blends. Warm air-drying was significantly beneficial to composite repairs mediated by silane primers. Comparable results were achieved by silane/adhesive couplings at 23 degrees C and 38 degrees C. At 38 degrees C all the intermediate agents resulted in repair microTBS that were comparable to the 24-h cohesive strength of the composite (one-way ANOVA, Dunnett t-tests; p < 0.05). CONCLUSION: The chemical interactions between silane primers and compozite substrate may be optimized through warm airdrying. Silane/adhesive couplings were not influenced by the air drying temperature.