Congenital metabolic bone disorders as a cause of bone fragility

Bone fragility is a pathological condition caused by altered homeostasis of the mineralized bone mass with deterioration of the microarchitecture of the bone tissue, which results in a reduction of bone strength and an increased risk of fracture, even in the absence of high-impact trauma. The most common cause of bone fragility is primary osteoporosis in the elderly. However, bone fragility can manifest at any age, within the context of a wide spectrum of congenital rare bone metabolic diseases in which the inherited genetic defect alters correct bone modeling and remodeling at different points and aspects of bone synthesis and/or bone resorption, leading to defective bone tissue highly prone to long bone bowing, stress fractures and pseudofractures, and/or fragility fractures. To date, over 100 different Mendelian-inherited metabolic bone disorders have been identified and included in the OMIM database, associated with germinal heterozygote, compound heterozygote, or homozygote mutations, affecting over 80 different genes involved in the regulation of bone and mineral metabolism. This manuscript reviews clinical bone phenotypes, and the associated bone fragility in rare congenital metabolic bone disorders, following a disease taxonomic classification based on deranged bone metabolic activity

Parathyroid tumors: Molecular signatures

Parathyroid tumors are rare endocrine neoplasms affecting 0.1–0.3% of the general population, including benign parathyroid adenomas (PAs; about 98% of cases), intermediate atypical parathyroid adenomas (aPAs; 1.2–1.3% of cases) and malignant metastatic parathyroid carcinomas (PCs; less than 1% of cases). These tumors are characterized by a variable spectrum of clinical phenotypes and an elevated cellular, histological and molecular heterogeneity that make it difficult to pre-operatively distinguish PAs, aPAs and PCs. Thorough knowledge of genetic, epigenetic, and molecular signatures, which characterize different parathyroid tumor subtypes and drive different tumorigeneses, is a key step to identify potential diagnostic biomarkers able to distinguish among different parathyroid neoplastic types, as well as provide novel therapeutic targets and strategies for these rare neoplasms, which are still a clinical and therapeutic challenge. Here, we review the current knowledge on gene mutations and epigenetic changes that have been associated with the development of different clinical types of parathyroid tumors, both in familial and sporadic forms of these endocrine neoplasms

Kajian Kinerja SDM Kearsipan Badan Arsip Dan Perpustakaan Provinsi Jawa Tengah Dalam Pengolahan Arsip Statis Tahun 2012

Penelitian ini berjudul “Kajian Kinerja SDM Kearsipan Badan Arsip Dan Perpustakaan Provinsi Jawa Tengah Dalam Pengolahan Arsip Statis Tahun 2012”.Tujuan dari penelitian ini adalah untuk mengetahui bagaimana kinerja SDM kearsipan Badan Arsip dan Perpustakaan Provinsi Jawa Tengah melalui: kompetensi individu, dukungan organisasi, dan dukungan manajeman, kendala yang dihadapi SDM kearsipan dan upaya dalam mengatasi kendala.Metode penelitian yang digunakan adalah metode kualitatif pendekatan ilmu sosial dengan istilah etnometodologi. Penentuan informan sebagai sumber informasi. Teknik pengumpulan data: observasi, wawancara, dokumen, dan studi literatur. Metode analisis data: teknik triangulasi dan analisis model interaktif: reduksi data, penyajian data, dan penarikan kesimpulan/verifikasi.Hasil didapat, kinerja SDM kearsipan Badan Arsip Dan Perpustakaan Provinsi Jawa Tengah dalam pengolahan arsip statis melalui 3 indikator: 1) kompetensi individu; 2) dukungan organisasi; 3) dukungan manajeman, serta 9 subindikator: 1) kemampuan dan keterampilan teknik; 2) kemampuan dan keterampilan pembuatan jalan masuk; 3) motivasi dan etos kerja; 4) pengorganisasian; 5) prasarana dan sarana; 6) kondisi kerja; 7) persyaratan kerja; 8) sistem kerja dan; 9) hubungan kerja. Adapun kendala yang dihadapi: 1) anggaran sarana kurang cukup; 2) kurangnya upaya peningkatan kompetensi SDM kearsipan. Upaya dalam mengatasi kendala: 1) berupaya memberikan anggaran sarana yang cukup; 2) berupaya memberikan peningkatan kompetensi SDM melalui pendidikan dan pelatihan dari instansi pembina kearsipan

Velocity fluctuations in a one dimensional Inelastic Maxwell model

We consider the velocity fluctuations of a system of particles described by the Inelastic Maxwell Model. The present work extends the methods, previously employed to obtain the one-particle velocity distribution function, to the study of the two particle correlations. Results regarding both the homogeneous cooling process and the steady state driven regime are presented. In particular we obtain the form of the pair correlation function in the scaling region of the homogeneous cooling process and show that some of its moments diverge. This fact has repercussions on the behavior of the energy fluctuations of the model.Comment: 16 pages, 1 figure, to be published on Journal of Statistical Mechanics: Theory and Experiment

Growth inhibition of Friend erythroleukaemia cell tumours in vivo by a synthetic analogue of prostaglandin A: an action independent of natural killer-activity.

Prostaglandins of the A series (PGAs) have been previously shown to inhibit the growth and to stimulate the differentiation of Friend erythroleukaemic cells (FLC) in vitro. In the present report we analysed the effect of PGA treatment in vitro on FLC tumorigenicity, and in vivo on FLC proliferation and on natural killer (NK) activity. PGA1 pretreatment of FLC in vitro for 5 days before inoculation into syngeneic mice slightly delayed tumour appearance, but did not significantly alter the pattern of tumour growth or mice survival, indicating that PGA1, at least in the conditions studied, did not affect FLC tumorigenicity. Daily treatment of mice with a long-acting synthetic analogue of PGA2 (16, 16 dimethyl-PGA2-methyl ester, di-M-PGA2) delayed tumour appearance, inhibited tumour growth, as measured by tumour weight and diameter, and increased the median mice survival time by 15-35%, depending on the schedule of treatment. Daily treatment with di-M-PGA2 strongly suppressed NK activity in normal mice but had no significant effect in tumour-bearing immunodepressed mice. PGA treatment of effector or target cells in vitro, or PGA added during the NK assay, had no effect on NK activity. We suggest that the chemotherapeutic effect of PGA is due to a direct action on tumour cell replication rather than to a stimulation of the host NK activity

Interface pinning and slow ordering kinetics on infinitely ramified fractal structures

We investigate the time dependent Ginzburg-Landau (TDGL) equation for a non conserved order parameter on an infinitely ramified (deterministic) fractal lattice employing two alternative methods: the auxiliary field approach and a numerical method of integration of the equations of evolution. In the first case the domain size evolves with time as $L(t)\sim t^{1/d_w}$, where $d_w$ is the anomalous random walk exponent associated with the fractal and differs from the normal value 2, which characterizes all Euclidean lattices. Such a power law growth is identical to the one observed in the study of the spherical model on the same lattice, but fails to describe the asymptotic behavior of the numerical solutions of the TDGL equation for a scalar order parameter. In fact, the simulations performed on a two dimensional Sierpinski Carpet indicate that, after an initial stage dominated by a curvature reduction mechanism \`a la Allen-Cahn, the system enters in a regime where the domain walls between competing phases are pinned by lattice defects. The lack of translational invariance determines a rough free energy landscape, the existence of many metastable minima and the suppression of the marginally stable modes, which in translationally invariant systems lead to power law growth and self similar patterns. On fractal structures as the temperature vanishes the evolution is frozen, since only thermally activated processes can sustain the growth of pinned domains.Comment: 16 pages+14 figure

Which is the temperature of granular systems? A mean field model of free cooling inelastic mixtures

We consider a mean field model describing the free cooling process of a two component granular mixture, a generalization of so called Maxwell model. The cooling is viewed as an ordering process and the scaling behavior is attributed to the presence of an attractive fixed point at $v=0$ for the dynamics. By means of asymptotic analysis of the Boltzmann equation and of numerical simulations we get the following results: 1)we establish the existence of two different partial granular temperatures, one for each component, which violates the Zeroth Law of Thermodynamics; 2) we obtain the scaling form of the two distribution functions; 3) we prove the existence of a continuous spectrum of exponents characterizing the inverse-power law decay of the tails of the velocity, which generalizes the previously reported value 4 for the pure model; 4) we find that the exponents depend on the composition, masses and restitution coefficients of the mixture; 5) we also remark that the reported distributions represent a dynamical realization of those predicted by the Non Extensive Statistical Mechanics, in spite of the fact that ours stem from a purely dynamical approach.Comment: 23 pages, 9 figures. submitted for publicatio

Steady state properties of a mean field model of driven inelastic mixtures

We investigate a Maxwell model of inelastic granular mixture under the influence of a stochastic driving and obtain its steady state properties in the context of classical kinetic theory. The model is studied analytically by computing the moments up to the eighth order and approximating the distributions by means of a Sonine polynomial expansion method. The main findings concern the existence of two different granular temperatures, one for each species, and the characterization of the distribution functions, whose tails are in general more populated than those of an elastic system. These analytical results are tested against Monte Carlo numerical simulations of the model and are in general in good agreement. The simulations, however, reveal the presence of pronounced non-gaussian tails in the case of an infinite temperature bath, which are not well reproduced by the Sonine method.Comment: 23 pages, 10 figures, submitted for publicatio

Pressure dependence of the single particle excitation in the charge-density-wave CeTe3_3 system

We present new data on the pressure dependence at 300 K of the optical reflectivity of CeTe$_3$, which undergoes a charge-density-wave (CDW) phase transition well above room temperature. The collected data cover an unprecedented broad spectral range from the infrared up to the ultraviolet, which allows a robust determination of the gap as well as of the fraction of the Fermi surface affected by the formation of the CDW condensate. Upon compressing the lattice there is a progressive closing of the gap inducing a transfer of spectral weight from the gap feature into the Drude component. At frequencies above the CDW gap we also identify a power-law behavior, consistent with findings along the $R$Te$_3$ series (i.e., chemical pressure) and suggestive of a Tomonaga-Luttinger liquid scenario at high energy scales. This newest set of data is placed in the context of our previous investigations of this class of materials and allows us to revisit important concepts for the physics of CDW state in layered-like two-dimensional systems