Dominant BIN1-related centronuclear myopathy (CNM) revealed by lower limb myalgia and moderate CK elevation

We report a BIN1-related CNM family with unusual clinical phenotype. The proband, a 56-year-old man suffered of lower limbs myalgia since the age of 52. Clinical examination showed short stature, mild symmetric eyelid ptosis without ophthalmoplegia, scapular winging and Achilles tendon retraction. A muscle weakness was not noted. CK levels were up to 350 UI/L. Deltoid muscle biopsy showed nuclear centralization and clustering, deep sarcolemmal invaginations and type 1 fiber hypotrophy. Whole body MRI revealed fatty infiltration of posterior legs compartments, lumbar paraspinal and serratus muscles. Myotonic dystrophy type1 and 2, Pompe disease and MTM1 and DNM2-related CNM were ruled out. By sequencing BIN1, we identified a heterozygous pathogenic mutation [c.107C > A (p.A36E)], and we demonstrate that the mutation strongly impairs the membrane tubulation property of the protein. One affected sister carried the same mutation. Her clinical examination and muscle MRI revealed a similar phenotype. Our findings expand the clinical and genetic spectrum of the autosomal dominant CNM associated with BIN1 mutations

Accurate near-threshold model for ultracold KRb dimers from interisotope Feshbach spectroscopy

We investigate magnetic Feshbach resonances in two different ultracold K-Rb mixtures. Information on the K(39)-Rb(87) isotopic pair is combined with novel and pre-existing observations of resonance patterns for K(40)-Rb(87). Interisotope resonance spectroscopy improves significantly our near-threshold model for scattering and bound-state calculations. Our analysis determines the number of bound states in singlet/triplet potentials and establishes precisely near threshold parameters for all K-Rb pairs of interest for experiments with both atoms and molecules. In addition, the model verifies the validity of the Born-Oppenheimer approximation at the present level of accuracy.Comment: 9 pages, 7 figure

Cross-cultural adaptation, validity and reliability study of the italian version of the back pain functional scale

SUMMARY Introduction. The Back Pain Functional Scale is a scale to assess disability in Low Back Pain patients. The purpose of this study was to translate, culturally adapt and validate the BPFS from the original English language into Italian. Materials and methods. Translation and cultural adaptation have been performed following international guidelines. 170 italian-speaking subjects with low back pain were recruited; 58 of them also performed the re-test. Internal consistency was assessed by calculating Cronbach’s Alpha and test-retest reliability was assessed by calculat ing the Intraclass Correlation Coefficient (ICC). Exploratory factor analysis and was performed to assess the construct validity and the correlation with other clinical scales was observed through Pearson’s correlation coefficients. Results. High internal consistency (Cronbach’s Alpha = 0.912) and very good test-re test reliability (ICC = 0.956) were found. Pearson’s correlation coefficient showed statistically significant correlations (p < 0.01) with the BPFS, FRI and ODI. Conclusions. The Italian version of the BPFS showed with good reliability and construct validity. This scale can be considered for the assessment of functional disabil ity in subjects with LBP: short, intuitive and easy to understand. It can certainly be used for both clinical practice and research

Earthquakes in a fault system embedded in an elastic body subject to increasing shear stress

We consider the faults of an elastic body subject to an increasing stress and the stress field generated by slip on a fault. The slip along the fault releases the stress component parallel to the slip, but the component normal to the fault is not released and increases in time at the same rate as the shear affecting the body. The effect is an increase of the value of the force necessary to cause the subsequent slip; and, if the shear increases linearly, it causes an increase of the time intervals between the earthquakes on the fault, that is between the stress drop p and the slip s. The density distribution of p in a given time interval is computed; it is found that rigorously it is not a power law although it is a decreasing function of p. It is also seen that, as in the cases in which it was assumed that the component of the stress field locking the fault, after each earthquake, in the time interval to the next earthquake, would be anelastically released, the logarithm of the density distribution of the moments of the earthquakes is a linear function of log (M0 ) and a linear function of M in any time interval; M0 and M being the scalar seismic moment and the magnitude, respectively. Conditions for the existence of these linear relationships are discussed finding that a sufficient condition, when the range of p is not exceptionally large, is that the density distribution of p be of the type log (p), which includes the case when it is independent of the fault linear size l. The Gutenberg-Richter frequency-magnitude relationship and the conditions to obtain aftershocks and seismic swarms generated by this model are presented and discussed. In order to obtain the observed density distribution of earthquakes one or several hypotheses can be done: 1) the stress locking the faults, between successive earthquakes of the same fault, is released anelastically; 2) the density distribution of the sizes of the faults is such as to cause the logarithm of the density distribution of log (M0) and of M to be linear; 3) the density distribution of log M0 (M) is linear and the linearity factor is related to the density distribution of the stress drop and not to that of the linear dimensions of the faults

The presence of the brown bear (Ursus arctos, L.) in the north eastern Alps (Friuli Venezia Giulia region) in relation to the Alpine metapopulation

The North Eastern Alps (Friuli Venezia Giulia Region) represent a peripheral area of presence of the Dinaric population (for the North Dinaric population, Slovenia, 400-450 individuals estimated) of the Brown Bear; in this area in the last years some individuals has started to come from Trentino population (40-45 individuals estimated) and to use this areas. In previous 114 researches this area has been considered one of the most suitable areas, in the alps, for supporting the alpine brown bear population and for enhancing the creation of the alpine metapopulation. From 2004 to the 2013 in mountains areas of the Friuli Venezia Giulia has been studied (2500 km2) the presence of the Brown Bear with different techniques: the genetic sampling (by opportunistic and systematic methods), photo interpretation and behavioral analysis and radiotelemetry. The genetic samplings have been obtained by the hair traps (50 permanent hair traps plus 80 temporary and moving hair traps) and by opportunistic techniques. By the genetic analysis it has detected the presence, from 2004, of 21 different genotypes (4 from Trentino and 17 from the Dinaric population, 3 of them studied by telemetry), all of them were males. The number of genotypes detected in different year has showed a cyclic pattern, with a increment in the last year, due to dispersing individuals from Dinaric source population; in different years, from 3 to 8 (2013), different genotypes have been detected, with a evident turnover. The median time of presence (years of sampling), for each genotypes, was 2 years, and only 6 genotypes have been sampled for 3 or more years (1 from Trentino); 10 genotypes have been sampled in only one year. Despite to the increment of the Trentino population and the high density of the Dinaric populations, in the north eastern alps the process of immigration and colonization appears to be slow and intermittent and seems correlated more to the demographic aspects (i.e localization and philopatry of the females, now present only in the Alpine and Dinaric areas of Slovenia and on the right side of Adige river, in Trentino), management of the Dinaric population, dispersal behavior and presence of not permeable infrastructure (high way Ljubljana-Trieste) rather than the ecological values of the areas

A novel method to optimize autologous adipose tissue recovery with extracellular matrix preservation

This work aims to characterize a new method to recover low-manipulated human adipose tissue, enriched with adipose tissue-derived mesenchymal stem cells (ATD-MSCs) for autologous use in regenerative medicine applications. Lipoaspirated fat collected from patients was processed through Lipocell, a Class II-a medical device for dialysis of adipose tissue, by varying filter sizes and washing solutions. ATD-MSC yield was measured with flow cytometry after stromal vascular fraction (SVF) isolation in fresh and cultured samples. Purification from oil and blood was measured after centrifugation with spectrophotometer analysis. Extracellular matrix preservation was assessed through hematoxylin and eosin (H&E) staining and biochemical assay for total collagen, type-2 collagen, and glycosaminoglycans (GAGs) quantification. Flow cytometry showed a two-fold increase of ATD-MSC yield in treated samples in comparison with untreated lipoaspirate; no differences where reported when varying filter size. The association of dialysis and washing thoroughly removed blood and oil from samples. Tissue architecture and extracellular matrix integrity were unaltered after Lipocell processing. Dialysis procedure associated with Ringer’s lactate preserves the proliferation ability of ATD-MSCs in cell culture. The characterization of the product showed that Lipocell is an efficient method for purifying the tissue from undesired byproducts and preserving ATD-MSC vitality and extracellular matrix (ECM) integrity, resulting in a promising tool for regenerative medicine applications