Miracle-dz/UniFAR-FTUs huggingface dataset:
Mutation analysis of the SOX9 gene in a patient with campomelic dysplasia

Haploinsufficiency of the SOX9 gene has been suggested as the cause of campomelic dysplasia (CD) (Foster et al., 1994; Wagner et al., 1994). This is a syadrome characterised by bowing of femora and tibiae, hypoplastic scapulae and pelvic bones, and nonmineralised thoracic pedicles. Other features include pretibial skin dimpling, dolichocephaly, micrognathia, cleft palate, a flat nasal bridge, low-set ears, talipes equinovarus, and congenital dislocation of the hips. The leading cause of neonatal death in this group is respiratory insufficiency secondary to tracheobronchomalacia. Less commonly there are associated cardiac, renal, and central nervous system (CNS) anomalies. Three-fourths of karyotypic males have gonadal dysgenesis with consequent sexreversal (Mansour et al., 1995). Until recently, it was thought that CD was due to an autosomal recessive pattern of inheritance as several affected sibships had been reported. When it was demonstrated that affected individuals had one normal allele for SOX9 and that their parents had two normal alleles, a dominant pattern of inheritance was postulated (Foster et al., 1994; Wagner et al., 1994). A dominant pattern of inheritance for CD was recently confirmed in a family with paternal germ cell mosaicism of a mutant SOX9 sequence (Cameron et al., 1996).
The Tragedy of Public Goods: The Case of a Marine Protected Area

Fishing resources are classified as a “commons good,” that is they are highly non-excludable and rival. This characteristic leads to the so-called tragedy of the commons, the tendency for a good that has no price to be used until its marginal benefit falls to zero. In this paper, a win-win fishery management policy is implemented for the Marine Protected Area of Asinara Island, (Sardinia, Italy). To this aim, a choice experiments methodology to elicit preferences based on conjoint analysis is developed. A graphical variant questionnaire, that is a block chart, is also implemented aimed at avoiding typical response bias. The empirical findings show that Asinara stakeholders overall would prefer increase sustainable yields of commercial species, reduce inner conflicts and increase profits from fishery.
Light Stimulates MSK1 Activation in the Suprachiasmatic Nucleus via a PACAP-ERK/MAP Kinase-Dependent Mechanism

Signaling via the p42/44 mitogen-activated protein kinase (MAPK) pathway has been shown to be a key intracellular signaling event that couples light to entrainment of the mammalian circadian clock located in the suprachiasmatic nucleus (SCN). Because many of the physiological effects of the MAPK pathway are mediated by extracellular signal-regulated kinase (ERK)-regulated kinases, it was of interest to identify kinase targets of ERK in the SCN. In this study, we examined whether mitogen- and stress-activated protein kinase 1 (MSK1) is a downstream target of ERK in the SCN and whether it couples to clock gene expression. Here we show that photic stimulation during the subjective night stimulates MSK1 phosphorylation at serine 360, an event required for robust kinase activation. Activated ERK and MSK1 were colocalized in SCN cell nuclei after photic stimulation. The in vivo administration of the MAP kinase kinase 1/2 inhibitor U0126 [1,4-diamino-2,3-dicyano-1,4-bis(o-aminophenylmercapto) butadiene] attenuated MSK1 phosphorylation. MSK1 phosphorylation was more responsive to late-night than early-night photic stimulation, indicating that MSK1 may differentially contribute to light-induced phase advancing and phase delaying of the clock. The potential connection between pituitary adenylate cyclase-activating polypeptide (PACAP) (a regulator of clock entrainment) and MSK1 phosphorylation was examined. PACAP infusion stimulated MSK1 phosphorylation, whereas PACAP receptor antagonist infusion attenuated light-induced MSK1 phosphorylation in the SCN. In reporter gene assays, MSK1 was shown to couple to mPeriod1 via a cAMP response element-binding protein-dependent mechanism. Together, these data identify MSK1 as both a downstream target of the MAPK cascade within the SCN and a regulator of clock gene expression.
Doping Optimization in Zn-Diffused GaSb Thermophotovoltaic Cells to Increase the Quantum Efficiency in the Long Wave Range

The GaSb cells are commonly fabricated using Zn diffusion into n-GaSb substrates. The doping of GaSb cells for both base and emitter regions is optimized for increasing the quantum efficiency (QE) in the long wave range, which will enhance the cell performance in thermophotovoltaic systems. Selection of lightly Te-doped n-GaSb substrates is an effective method. The surface recombination velocity (S) has a direct impact on the emitter doping. The optimal diffusion depth increases with the decreasing of S value. The QE in the long wave range will increase with the deepening of diffusion depth if the S is kept at a low value. The GaSb cells with different junction depths were fabricated using Zn diffusion and sulfur passivation, the cell with a deep junction has the larger QE in the long wave range, which is consistent with our simulation results.
Computed Tomographic Angiography with VirSSPA Three-Dimensional Software for Perforator Navigation Improves Perioperative Outcomes in DIEP Flap Breast Reconstruction

Background: Vascular anatomy of the abdominal wall varies greatly, especially in the case of the perforator branches of the deep inferior epigastric artery. Preoperative three-dimensional reconstructions with VirSSPA software have been used in the authors' center since the year 2007 for the planning of perforator flaps in breast reconstruction. The main objectives were to reduce surgery time and the number of complications. Methods: A comparative study was conducted in 70 patients subjected to delayed breast reconstruction based on unilateral deep inferior epigastric perforator (DIEP) flaps. Half of the patient group underwent preoperative imaging with computed tomographic angiography–guided VirSSPA reconstruction, whereas the other half was subjected to preoperative Doppler ultrasound for perforator mapping. Operation time ranges, lengths of stay, and operative complications were assessed. Results: The use of VirSSPA preoperative planning correlated with operative times reduced by a mean of 2 hours 8 minutes. In addition, a statistically significant reduction (>45 percent) in the incidence of any flap-related complications was observed in patients undergoing preoperative computed tomographic angiography–guided VirSSPA reconstruction and a decrease above 50 percent in overall donor-site morbidity. The use of computed tomographic angiography–guided VirSSPA three-dimensional reconstruction was found to be a protective factor against developing any kind of complication after DIEP flap surgery (odds ratio, 0.03; 95 percent confidence interval, 0.006 to 0.15). Conclusions: Computed tomographic angiography–guided VirSSPA three-dimensional reconstruction in the assessment of perforator flaps was proved to be safe and reliable. The main benefits of this technique were the reduction of surgical time and reduction of the number of complications.
Cryoablation or radiofrequency ablation of the small renal mass

The incidence of renal cell carcinoma is rising because of incidental detection of small renal masses (SRMs). Although surgical resection remains the standard of care, cryoablation and radiofrequency ablation (RFA) have emerged as minimally invasive treatment alternatives. The authors of this report performed a comparative meta‐analysis evaluating cryoablation and RFA as primary treatment for SRMs.
A novel low power multilpier and full adder using hybrid CMOS logic

In recent trends most of the digital circuits are combinations of full adders and multipliers. In past many reported that adders, multipliers are suffered from the problems of voltage swing and high noise when operated at low voltage. Consequently new design methodologies are being implemented in which hybrid CMOS logic full adder is one of the proposed circuit having low power consumption, high speed and good driving capability. Hybrid logic style is a different logic design to implement full adder. For this we adopted XOR and XNOR gates. These gates are regulated for obtaining sum output with pass transistor UPLD. In this paper we implemented multiplier by using Hybrid CMOS logic full adder. This has accurate results, low voltage swing. Here simulation results are verified by using TANNER TOOLS V16.0.
Lung cancer is associated with decreased expression of perforin, granzyme B and interferon (IFN)‐γ by infiltrating lung tissue T cells, natural killer (NK) T‐like and NK cells

There is a limited understanding how of lung cancer cells evade cytotoxic attack. Previously, we have shown reduced production of the cytotoxic mediator granzyme B by CD8+ T cells in lung cancer tissue. We hypothesized that lung cancer would be further associated with decreased production of granzyme B, perforin and proinflammatory cytokines by other cytotoxic lymphocytes, natural killer (NK) T‐like and NK cells, and that this would result from soluble mediators released by the cancer cells. Lung cancer and non‐cancer tissue from five patients was identified by experienced pathologists. Tumour necrosis factor (TNF)‐α, interferon (IFN)‐γ, granzyme B and perforin were measured in CD4 and CD8+ T, NK T‐like cells and NK cells by flow cytometry. Correlation between cancer stage and granzyme B was analysed retrospectively for 21 patients. The effects of soluble factors released by lung cancer cells on production of cytotoxic mediators and cytokines was assessed, and the role of prostaglandin E2 (PGE)2/COX investigated using indomethacin inhibition. There were significantly decreased percentages of T, NK T‐like and NK cells expressing perforin, TNF‐α and IFN‐γ in cancer versus non‐cancer tissue, and of CD8+ T cells and CD8+ NK T‐like cells expressing granzyme B (e.g. NK T‐like cells: non‐cancer 30% ± 7 versus cancer 6% ± 2·5). Cancer cells released soluble factors that inhibited granzyme B, perforin and IFN‐γ production that was partially associated with the PGE2/COX2 pathway. Thus, lung cancer is associated with decreased expression of granzyme B, perforin and IFN‐γ by infiltrating T cells, NK T‐like and NK cells, possibly as a result of soluble factors produced by the cancer cells including PGE2. This may be an important immune evasion mechanism.
Five-year clinical results of zirconia frameworks for posterior fixed partial dentures.

PURPOSE The aim of this prospective clinical cohort study was to determine the success rate of 3- to 5-unit zirconia frameworks for posterior fixed partial dentures (FPDs) after 5 years of clinical observation. MATERIALS AND METHODS Forty-five patients who needed at least 1 FPD to replace 1 to 3 posterior teeth were included in the study. Fifty-seven 3- to 5-unit FPDs with zirconia frameworks were cemented with 1 of 2 resin cements (Variolink or Panavia TC). The following parameters were evaluated at baseline, after 6 months, and 1 to 5 years after cementation at test (abutments) and control (contralateral) teeth: probing pocket depth, probing attachment level, Plaque Index, bleeding on probing, and tooth vitality. Intraoral radiographs of the FPDs were taken. Statistical analysis was performed using descriptive statistics, Kaplan-Meier survival analysis, and the McNemar test. RESULTS Twenty-seven patients with 33 zirconia FPDs were examined after a mean observation period of 53.4 +/- 13 months. Eleven patients with 17 FPDs were lost to follow-up. After the 3-year recall visit, 7 FPDs in 7 patients were replaced because they were not clinically acceptable due to biologic or technical complications. After 5 years of clinical observation, 12 FPDs in 12 patients had to be replaced. One 5-unit FPD fractured as a result of trauma after 38 months. The success rate of the zirconia frameworks was 97.8%; however, the survival rate was 73.9% due to other complications. Secondary caries was found in 21.7% of the FPDs, and chipping of the veneering ceramic in 15.2%. There were no significant differences between the periodontal parameters of the test and control teeth. CONCLUSIONS Zirconia offers sufficient stability as a framework material for 3- and 4-unit posterior FPDs. The fit of the frameworks and veneering ceramics, however, should be improved.
The Right to Remain Anonymous: Anonymous Speakers, Confidential Sources and the Public Good

In the digital age, the news media gives voice to anonymous speakers in two ways: reporters may extend confidentiality to sources in exchange for newsworthy information, or a news website may host an online comment function that allows readers to post their reactions to content pseudonymously. Of these two groups of anonymous speakers, only online posters enjoy certain First Amendment protection against a subpoena seeking disclosure of their identities. The reporter’s privilege has always been legally defined as the professional privilege of a reporter to maintain the confidentiality of his sources. Yet as with all evidentiary privileges, the reporter’s privilege serves both private and public ends. Historically, state statutes and state common law have protected the private arrangement that enables sources to disclose information without fear of reprisal, and journalists to gain newsworthy content, because this relationship furthers the free flow of information to the public. By contrast, protection for anonymous
Transcriptome Analysis of Recombinant Protein Secretion by Aspergillus nidulans and the Unfolded-Protein Response In Vivo

ABSTRACT Filamentous fungi have a high capacity for producing large amounts of secreted proteins, a property that has been exploited for commercial production of recombinant proteins. However, the secretory pathway, which is key to the production of extracellular proteins, is rather poorly characterized in filamentous fungi compared to yeast. We report the effects of recombinant protein secretion on gene expression levels in Aspergillus nidulans by directly comparing a bovine chymosin-producing strain with its parental wild-type strain in continuous culture by using expressed sequence tag microarrays. This approach demonstrated more subtle and specific changes in gene expression than those observed when mimicking the effects of protein overproduction by using a secretion blocker. The impact of overexpressing a secreted recombinant protein more closely resembles the unfolded-protein response in vivo.
Beyond the Mass Tourism Stereotype

Low-priced tour packages are mass tourism power projection sites where providers attempt to restrict tourist power. This study adopts a hybrid design that incorporates dual analytic autoethnography and blog analysis, sharing not only the authors’ experiences and insights into the negotiation between supplier attempts to disempower tourists and reciprocal efforts of tourists to self-empower in all-inclusive tour packages, but also viewpoints of other tour participants collected during the tours and from the Internet. Tour experiences were negotiated through power exchanges. In this “powerscape,” we were subjected to disempowerment strategies, including domination, intimidation, reliance creation, and trust building, while our self-empowerment ranged from active resistance to nonresistance. Different disempowerment strategies appear to solicit specific reactions. Our exploratory study provides insight into the power dynamics implicit in mass tourism and identifies several contextual factors that shape power relationships.
Low Complexity Maximum-likelihood Decoder for VBLAST-STBC scheme in MIMO Wireless Communication Systems

In this work, we propose a low-complexity maximum-likelihood decoding approach based on QR decomposition (QRD) for signal detection in VBLAST-STBC systems, which employ less receive antennas than transmit antennas. With the example illustration of (6,3) system using rate 3/4 STBC for three transmit antennas, computer simulations are implemented to verify the performance and complexity of the proposed decoder
Medical Image Segmentation Using Feature-based GVF Snake

We propose a feature-based GVF snake for medical image segmentation here. Feature-based criteria are introduced for the GVF snake to stop its iterations. Without these criteria, the GVF snake might continue its iterations even though it has converged at the targeted object and result in longer computational time. The feature here is the area of the targeted object. Our proposed method comprises of two stages, namely the training stage and the segmentation stage. In the training stage, we acquire prior knowledge on the relative area of the targeted object from training data. In the segmentation stage, the proposed feature-based GVF snake is applied to segment the object from the image after computing the estimated area of the targeted object. In our proposed method, the GVF snake stops its iterations when the area bounded by its propagation is approximately equal to the estimated area and when it undergoes little change over two consecutive iterations. To illustrate the effectiveness of our proposed method, we applied it to the segmentation of the masseter muscle, which is the strongest jaw muscle, from 2-D magnetic resonance (MR) images. Numerical evaluation done indicates good agreement between the computerized and manual segmentations, with mean overlap of 92%.
Kv8.1, a new neuronal potassium channel subunit with specific inhibitory properties towards Shab and Shaw channels.

Outward rectifier K+ channels have a characteristic structure with six transmembrane segments and one pore region. A new member of this family of transmembrane proteins has been cloned and called Kv8.1. Kv8.1 is essentially present in the brain where it is located mainly in layers II, IV and VI of the cerebral cortex, in hippocampus, in CA1‐CA4 pyramidal cell layer as well in granule cells of the dentate gyrus, in the granule cell layer and in the Purkinje cell layer of the cerebellum. The Kv8.1 gene is in the 8q22.3–8q24.1 region of the human genome. Although Kv8.1 has the hallmarks of functional subunits of outward rectifier K+ channels, injection of its cRNA in Xenopus oocytes does not produce K+ currents. However Kv8.1 abolishes the functional expression of members of the Kv2 and Kv3 subfamilies, suggesting that the functional role of Kv8.1 might be to inhibit the function of a particular class of outward rectifier K+ channel types. Immunoprecipitation studies have demonstrated that inhibition occurs by formation of heteropolymeric channels, and results obtained with Kv8.1 chimeras have indicated that association of Kv8.1 with other types of subunits is via its N‐terminal domain.
Sleep and respiration of rats during hypoxia.

1. The effects of hypoxia on slow‐wave sleep (SWS) and of SWS on respiratory responses to hypoxia were investigated on rats provided with chronically implanted cortical electrodes. 2. During the daytime (5‐7 hr periods) the proportion of time spent in SWS was 45% (S.E. +/‐ 1.0%) when the rats breathed air. Exposure to 10% O2 (equivalent to 18,000 ft.) reduced this proportion to 27% (S.E. +/‐ 2.5%). During hypoxia the intensity of e.e.g. activity in SWS (mean, rectified slow‐wave voltage) rarely equalled the normal values characteristic of the same rats in fully developed SWS breathing air. The normal pattern of 5‐15 min episodes of SWS was changed by hypoxia to a series of brief (2‐3 min) incompletely developed episodes. 3. Addition of CO2 to inspired gas failed to prevent the reduction of SWS during hypoxia. CO2 in normal O2 did not alter sleep significantly. The effects of hypoxia on sleep therefore depend upon changes in O2 pressure rather than upon changes in CO2. 4. The effect of SWS on respiration of rats breathing air was to decrease frequency and minute volume by 10‐20%. In hypoxia, however, the frequency increased markedly when the animals entered SWS ; minute volume was not significantly changed. It follows that stimulation of breathing by hypoxia is greater during SWS than during wakefulness. 5. The anomalous increase of respiratory frequency when hypoxic rats entered SWS was abolished by addition of CO2 to the hypoxic gas mixture. 6. Steady‐state gaseous metabolism (Vo2 Vco2) was decreased 18 +/‐ 3% during hypoxia and was increased 31 +/‐ 4% during exposure to 5% CO2. The implications of these changes for interpretation of respiratory responses to O2 and CO2 are discussed.
Inhibition of host cell translation elongation by Legionella pneumophila blocks the host cell unfolded protein response

Significance The unfolded protein response (UPR) is a cellular mechanism for coping with misfolded proteins in the lumen of the endoplasmic reticulum (ER). UPR pathways are also induced in response to viral and bacterial pathogens, resulting in enhanced proinflammatory cytokine induction. Here we provide mechanistic evidence for how an intracellular pathogen is able to inhibit the IRE1 branch of the UPR by blocking host translation elongation. Given that a broad spectrum of pathogens block protein synthesis specifically at elongation rather than at other steps of translation, this may point to a common mechanism for blocking the UPR and thereby preventing enhanced proinflammatory cytokine signaling. Cells of the innate immune system recognize bacterial pathogens by detecting common microbial patterns as well as pathogen-specific activities. One system that responds to these stimuli is the IRE1 branch of the unfolded protein response (UPR), a sensor of endoplasmic reticulum (ER) stress. Activation of IRE1, in the context of Toll-like receptor (TLR) signaling, induces strong proinflammatory cytokine induction. We show here that Legionella pneumophila, an intravacuolar pathogen that replicates in an ER-associated compartment, blocks activation of the IRE1 pathway despite presenting pathogen products that stimulate this response. L. pneumophila TLR ligands induced the splicing of mRNA encoding XBP1s, the main target of IRE1 activity. L. pneumophila was able to inhibit both chemical and bacterial induction of XBP1 splicing via bacterial translocated proteins that interfere with host protein translation. A strain lacking five translocated translation elongation inhibitors was unable to block XBP1 splicing, but this could be rescued by expression of a single such inhibitor, consistent with limitation of the response by translation elongation inhibitors. Chemical inhibition of translation elongation blocked pattern recognition receptor-mediated XBP1 splicing, mimicking the effects of the bacterial translation inhibitors. In contrast, host cell-promoted inhibition of translation initiation in response to the pathogen was ineffective in blocking XBP1 splicing, demonstrating the need for the elongation inhibitors for protection from the UPR. The inhibition of host translation elongation may be a common strategy used by pathogens to limit the innate immune response by interfering with signaling via the UPR.
Moving towards an electronic patient record: a survey to assess the needs of community family physicians

OBJECTIVE To determine the needs of community family physicians regarding electronic patient records (EPRs). DESIGN A comprehensive survey was sent to 101 community family physicians in Hamilton, Ontario, who had expressed an interest in EPRs. RESULTS 46 physicians responded (46%). 87% felt that an EPR would result in their providing better patient care. A wide variety of items were deemed to be important to be included on the EPR "front page". Desired functionality emphasized labs, medications, consultation, hospital follow-up and health maintenance. Family physicians tended to prefer templates to other data entry methods such as typing and dictating. Respondents were more willing to view information from the hospital than to let the hospital view information from their own offices. CONCLUSION This survey provided useful information on the perceived EPR needs of community-based family physicians. It will be repeated post-computerization.