A novel MEFV gene mutation (A511V) in a Chilean FMF patient

Familial Mediterranean fever (FMF) is an autosomal recessive disease which is characterized by recurrent fever and inflammation of serous membranes. A Chilean FMF patient was investigated for MEFV mutations. After DNA extraction, exons 3, 5, 10 and 30UTR region of MEFV gene were analyzed by DNA sequencing while E148Q and R202Q mutations of exon 2 weredetected by RFLP. A novel missense mutation, A511V (c.1532C>T, p.Ala511Val), was found in a heterozygous state in exon 5 of MEFV gene. Also, R202Q (c.605G>A, p.Arg202Gln) was detected in heterozygous state. R202Q was of clinical value in the diagnosis of FMF when combined with adisease causing mutation. In this patient, A511V was detected in compound heterozygous state with R202Q and this association may play an important role in FMF

A prenatally detected adrenal cyst treated by adrenal-sparing surgery: case report and review of the literature

A neonatal case of left adrenal cyst detected in utero and successfully treated by adrenal-sparing surgery is presented and discussed with review of the literature. Incidentally discovered prenatal adrenal masses present a diagnostic dilemma. Benign and malignant conditions can present as a fetal suprarenal mass. There is a wide spectrum of management modalities ranging from followup by serial sonographic scanning during pregnancy to early primary excision of the mass. We report a neonate with prenatal diagnosis of a cystic mass arising from the left adrenal gland. Postnatal excision of the mass without adrenalectomy was carried out. Frozen sections of the mass and a biopsy of the left adrenal gland confirmed the benign nature of the cyst and normal adrenal tissue. The uniloculated cyst was reported as a pseudocyst. After surgery, the recovery was uneventful, and the patient was discharged 4 days postoperatively in good condition. On the basis of this case and review of the literature, we may conclude that early primary surgical excision is recommended for either diagnosis or treatment if the results of prenatal or postnatal imaging studies are unreliable for the precise diagnosis of suprarenal mass. Adrenal-sparing surgery is recommended if pathological evaluation of frozen sections has confirmed the benign nature of the mass.Keywords: adrenal-sparing surgery, neonates, prenatal diagnosis, suprarenal cys

Microstructural defect properties of InGaN/GaN blue light emitting diode structures

Cataloged from PDF version of article.In this paper, we study structural and morphological properties of metal-organic chemical vapour deposition-grown InGaN/GaN light emitting diode (LED) structures with different indium (In) content by means of high-resolution X-ray diffraction, atomic force microscopy (AFM), Fourier transform infrared spectroscopy (FTIR), photoluminescence (PL) and current-voltage characteristic (I-V). We have found out that the tilt and twist angles, lateral and vertical coherence lengths of mosaic blocks, grain size, screw and edge dislocation densities of GaN and InGaN layers, and surface roughness monotonically vary with In content. Mosaic defects obtained due to temperature using reciprocal lattice space map has revealed optimized growth temperature for active InGaN layer of MQW LED. It has been observed in this growth temperature that according to AFM result, LED structure has high crystal dimension, and is rough whereas according to PL and FTIR results, bandgap energy shifted to blue, and energy peak half-width decreased at high values. According to I-V measurements, it was observed that LED reacted against light at optimized temperature. In conclusion, we have seen that InGaN MQW structure's structural, optical and electrical results supported one another

Filtering characteristics of hybrid integrated polymer and compound semiconductor waveguides

This paper reports a study on a compact filter fabricated using hybrid integration of compound semiconductors and polymers. A GaAs epilayer is glued onto a polymer channel waveguide forming a highly asymmetrical directional coupler. This approach results in a narrow band filter due to very different dispersion characteristics of the compound semiconductor and the polymer materials. Furthermore, fiber coupling loss has been significantly reduced, since the input and output coupling is done through the polymer waveguide. Filtering characteristics can be engineered by changing the thickness and the length of the semiconductor epilayer. This can be done precisely using etch stop layers and noncritical lithography. The spectral response of such a filter can also be tuned electronically either using the electro-optic properties of the compound semiconductor or the thermo-optic properties of the polymer

Genome-Wide Transcriptional Reorganization Associated with Senescence-to-Immortality Switch during Human Hepatocellular Carcinogenesis

Cataloged from PDF version of article.Senescence is a permanent proliferation arrest in response to cell stress such as DNA damage. It contributes strongly to tissue aging and serves as a major barrier against tumor development. Most tumor cells are believed to bypass the senescence barrier (become "immortal") by inactivating growth control genes such as TP53 and CDKN2A. They also reactivate telomerase reverse transcriptase. Senescence-to-immortality transition is accompanied by major phenotypic and biochemical changes mediated by genome-wide transcriptional modifications. This appears to happen during hepatocellular carcinoma (HCC) development in patients with liver cirrhosis, however, the accompanying transcriptional changes are virtually unknown. We investigated genome-wide transcriptional changes related to the senescence-to-immortality switch during hepatocellular carcinogenesis. Initially, we performed transcriptome analysis of senescent and immortal clones of Huh7 HCC cell line, and identified genes with significant differential expression to establish a senescence-related gene list. Through the analysis of senescence-related gene expression in different liver tissues we showed that cirrhosis and HCC display expression patterns compatible with senescent and immortal phenotypes, respectively; dysplasia being a transitional state. Gene set enrichment analysis revealed that cirrhosis/senescence-associated genes were preferentially expressed in non-tumor tissues, less malignant tumors, and differentiated or senescent cells. In contrast, HCC/immortality genes were up-regulated in tumor tissues, or more malignant tumors and progenitor cells. In HCC tumors and immortal cells genes involved in DNA repair, cell cycle, telomere extension and branched chain amino acid metabolism were up-regulated, whereas genes involved in cell signaling, as well as in drug, lipid, retinoid and glycolytic metabolism were down-regulated. Based on these distinctive gene expression features we developed a 15-gene hepatocellular immortality signature test that discriminated HCC from cirrhosis with high accuracy. Our findings demonstrate that senescence bypass plays a central role in hepatocellular carcinogenesis engendering systematic changes in the transcription of genes regulating DNA repair, proliferation, differentiation and metabolism

Double Spin Asymmetries A_NN and A_SS at sqrt{s}=200 GeV in Polarized Proton-Proton Elastic Scattering at RHIC

We present the first measurements of the double spin asymmetries A_NN and A_SS at sqrt{s}=200 GeV, obtained by the pp2pp experiment using polarized proton beams at the Relativistic Heavy Ion Collider (RHIC). The data were collected in the four momentum transfer t range 0.01<|t|<0.03 (GeV/c)^2. The measured asymmetries, which are consistent with zero, allow us to estimate upper limits on the double helicity-flip amplitudes phi_2 and phi_4 at small t as well as on the difference Delta(sigma_T) between the total cross sections for transversely polarized protons with antiparallel or parallel spin orientations.Comment: 13 pages with 3 figures. Final version accepted by Phys. Lett.

Parametrical method of low-frequency harmonics suppression in rectifier’s output voltage under supply voltage unbalances (Mathematical model, study and industrial application)

This paper deals with using an original and pure electronic method for low-frequency harmonic suppression with wide industrial realization and application, in place of the usually heavy inductive, low-frequency harmonic filters. One of the main applications was made for small land power supply units of onboard complexes in ground-based air navigation when preflight ground check-service is made. The transport management at thousands of small provincial airports in the former country is still unfortunate. The same situation is in Northern and central Central Asia, Northern Caucasian and Trans-Caucasian Mountains, oriented to small civil and agricultural services airports, etc. Everywhere the phase and line voltage amplitude unbalance can reach between 10-15% at the settlement’s power tiny transformer or generator and there are thousands and thousands of such local «airports» [1, 6]. This paper has been editing by a native speaker, Ms. Rachel Alcorn — our sincere thanks.У статті розглядається використання оригінального і чисто електронного методу низькочастотного зниження рівня гармонік для широкої промислової реалізації та застосування в якості індуктивних низькочастотних фільтрів гармонік. Одним з основних застосувань методу було здійснено для невеликих блоків живлення бортових комплексів наземного базування повітряної навігації при проведенні передпольотної наземної перевірки та обслуговування. Управління транспортом у великій кількості невеликих провінційних аеропортів проводилося невдало. Та ж ситуація спостерігається в північній і центральній частині Середньої Азії, Північного Кавказу і Закавказьких гір, які орієнтовані на невеликі аеропорти цивільних і сільськогосподарських послуг і т.д. Скрізь в локальних аеропортах дисбаланс фази і амплітуди напруги в лініях може досягати 10-15% при включенні живлення невеликого трансформатора поселення або генератора [1, 6]. Висловлюємо подяку за редагування статті пані Рейчел Алкорн

Application of a stochastic weather generator to assess climate change impacts in a semi-arid climate: The Upper Indus Basin

Assessing local climate change impacts requires downscaling from Global Climate Model simulations. Here, a stochastic rainfall model (RainSim) combined with a rainfall conditioned weather generator (CRU WG) have been successfully applied in a semi-arid mountain climate, for part of the Upper Indus Basin (UIB), for point stations at a daily time-step to explore climate change impacts. Validation of the simulated time-series against observations (1961–1990) demonstrated the models’ skill in reproducing climatological means of core variables with monthly RMSE of <2.0 mm for precipitation and ⩽0.4 °C for mean temperature and daily temperature range. This level of performance is impressive given complexity of climate processes operating in this mountainous context at the boundary between monsoonal and mid-latitude (westerly) weather systems. Of equal importance the model captures well the observed interannual variability as quantified by the first and last decile of 30-year climatic periods. Differences between a control (1961–1990) and future (2071–2100) regional climate model (RCM) time-slice experiment were then used to provide change factors which could be applied within the rainfall and weather models to produce perturbed ‘future’ weather time-series. These project year-round increases in precipitation (maximum seasonal mean change:+27%, annual mean change: +18%) with increased intensity in the wettest months (February, March, April) and year-round increases in mean temperature (annual mean +4.8 °C). Climatic constraints on the productivity of natural resource-dependent systems were also assessed using relevant indices from the European Climate Assessment (ECA) and indicate potential future risk to water resources and local agriculture. However, the uniformity of projected temperature increases is in stark contrast to recent seasonally asymmetrical trends in observations, so an alternative scenario of extrapolated trends was also explored. We conclude that interannual variability in climate will continue to have the dominant impact on water resources management whichever trajectory is followed. This demonstrates the need for sophisticated downscaling methods which can evaluate changes in variability and sequencing of events to explore climate change impacts in this region

MIR376A is a regulator of starvation-induced autophagy

Background: Autophagy is a vesicular trafficking process responsible for the degradation of long-lived, misfolded or abnormal proteins, as well as damaged or surplus organelles. Abnormalities of the autophagic activity may result in the accumulation of protein aggregates, organelle dysfunction, and autophagy disorders were associated with various diseases. Hence, mechanisms of autophagy regulation are under exploration. Methods: Over-expression of hsa-miR-376a1 (shortly MIR376A) was performed to evaluate its effects on autophagy. Autophagy-related targets of the miRNA were predicted using Microcosm Targets and MIRanda bioinformatics tools and experimentally validated. Endogenous miRNA was blocked using antagomirs and the effects on target expression and autophagy were analyzed. Luciferase tests were performed to confirm that 3’ UTR sequences in target genes were functional. Differential expression of MIR376A and the related MIR376B was compared using TaqMan quantitative PCR. Results: Here, we demonstrated that, a microRNA (miRNA) from the DlkI/Gtl2 gene cluster, MIR376A, played an important role in autophagy regulation. We showed that, amino acid and serum starvation-induced autophagy was blocked by MIR376A overexpression in MCF-7 and Huh-7 cells. MIR376A shared the same seed sequence and had overlapping targets with MIR376B, and similarly blocked the expression of key autophagy proteins ATG4C and BECN1 (Beclin 1). Indeed, 3’ UTR sequences in the mRNA of these autophagy proteins were responsive to MIR376A in luciferase assays. Antagomir tests showed that, endogenous MIR376A was participating to the control of ATG4C and BECN1 transcript and protein levels. Moreover, blockage of endogenous MIR376A accelerated starvation-induced autophagic activity. Interestingly, MIR376A and MIR376B levels were increased with different kinetics in response to starvation stress and tissue-specific level differences were also observed, pointing out to an overlapping but miRNA-specific biological role. Conclusions: Our findings underline the importance of miRNAs encoded by the DlkI/Gtl2 gene cluster in stress-response control mechanisms, and introduce MIR376A as a new regulator of autophagy

Involvement of patients or their representatives in quality management functions in EU hospitals:implementation and impact on patient-centred care strategies

OBJECTIVE: The objective of this study was to describe the involvement of patients or their representatives in quality management (QM) functions and to assess associations between levels of involvement and the implementation of patient-centred care strategies. DESIGN: A cross-sectional, multilevel STUDY DESIGN: that surveyed quality managers and department heads and data from an organizational audit. SETTING: Randomly selected hospitals (n = 74) from seven European countries (The Czech Republic, France, Germany, Poland, Portugal, Spain and Turkey). PARTICIPANTS: Hospital quality managers (n = 74) and heads of clinical departments (n = 262) in charge of four patient pathways (acute myocardial infarction, stroke, hip fracture and deliveries) participated in the data collection between May 2011 and February 2012. MAIN OUTCOME MEASURES: Four items reflecting essential patient-centred care strategies based on an on-site hospital visit: (1) formal survey seeking views of patients and carers, (2) written policies on patients' rights, (3) patient information literature including guidelines and (4) fact sheets for post-discharge care. The main predictors were patient involvement in QM at the (i) hospital level and (ii) pathway level. RESULTS: Current levels of involving patients and their representatives in QM functions in European hospitals are low at hospital level (mean score 1.6 on a scale of 0 to 5, SD 0.7), but even lower at departmental level (mean 0.6, SD 0.7). We did not detect associations between levels of involving patients and their representatives in QM functions and the implementation of patient-centred care strategies; however, the smallest hospitals were more likely to have implemented patient-centred care strategies. CONCLUSIONS: There is insufficient evidence that involving patients and their representatives in QM leads to establishing or implementing strategies and procedures that facilitate patient-centred care; however, lack of evidence should not be interpreted as evidence of no effect