Miracle-dz/UniFAR-FTUs huggingface dataset:
Interstitial 10p11.23–p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism

Cryptorchidism is the most common genital problem encountered in males and is associated with many chromosomal disorders; however, the genetic factors are mostly unknown. To delineate critical genes affecting testicular migration, we performed genotype–phenotype correlation in patients with deletions involving the proximal short arm of chromosome 10 (10p11–p12), a rare abnormality characterized by developmental delay, craniofacial abnormalities, and in some cases, cryptorchidism. Here we report on a male patient with developmental delay, mild craniofacial dysmorphism, bilateral cryptorchidism, and an 850‐kb deletion, within the 10p11.2 region, involving three genes—MKX, ARMC4, and MPP7—as determined by array comparative genomic hybridization analysis. Comparison with four previously reported male patients with overlapping deletions revealed a 140‐kb common region, containing the MKX gene, in association with cryptorchidism. The MKX gene is a member of the three amino acid loop extension (TALE) superclass of homeobox genes that is expressed in developing male gonads (male gonadal ridge and testis cords) in temporal relationship to SOX9, a critical regulator of sexual differentiation. Our results suggest that haploinsufficiency of the MKX gene may affect the developmental process during testis migration or serve as a genetic susceptibility locus for cryptorchidism. We propose that deletions of the proximal 10p represent a contiguous gene syndrome; therefore, patients may present with a complex phenotype, depending on the extent of the deletion. © 2014 Wiley Periodicals, Inc.
Negotiated Trade Restrictions with Private Political Pressure

In this paper we consider a home government with political pressure to restrict trade, at the expense of foreigners. The foreign country is compensated with an income transfer, which can be thought of as a portion of the tariff revenues or quota rents. In this setting the two countries should negotiate over the level of tariff and transfer of rents, depending on the level of political pressure at home. However, if this pressure cannot be directly observed abroad, then the home country may have an incentive to claim arbitrarily high political need and seek corresponding high trade barriers . We resolve this problem by determining incentive compatible trade policies, in which the home government has no incentive to overstate (or understate) the political pressure for protection.
Nigerythrin and rubrerythrin from Desulfovibrio vulgaris each contain two mononuclear iron centers and two dinuclear iron clusters.

The trivial name 'rubr-erythrin' is a contraction of two other trivial names: rubredoxin (ruber, red) and hemerythrin. It names a protein of undetermined biological function which putatively carries rubredoxin-like mononuclear iron and hemerythrin-like dinuclear iron. The name 'nigerythrin' (niger, black) is an analogy of rubrerythrin. It identifies a second protein of undetermined function which has prosthetic groups similar to rubrerythrin. Rubrerythrin was initially described [LeGall, J., Prickril, B. C. , Moura, I. , Xavier, A. V. , Moura, J. J. G. & Huynh, B. -H. (1988) Biochemistry 27, 1636-1642] as a homodimer with four iron ions arranged into two rubredoxin sites and one inter-subunit dinuclear cluster. Nigerythrin is a novel protein. Here, we report that both proteins are homodimers, each dimer carrying not four but six iron ions in two mononuclear centers and two dinuclear clusters. Rubrerythrin and nigerythrin are probably both located in the cytoplasm; they are differentially characterized with respect to molecular mass, pI, N-terminal sequence, antibody cross-reactivity, optical absorption, EPR spectroscopy, and reduction potentials. All three reduction potentials in both proteins are > +200 mV. These appear too high to be of practical relevance in the cytoplasm of the sulfate reducer Desulfovibrio vulgaris (Hildenborough). We suggest the possibility of a non-redox role for both proteins with all six iron ions in the ferrous state.
Shanks' Method for Dynamic Phasor Estimation

A new algorithm for phasor estimation is proposed. It is based on a signal model that allows amplitude and phase dynamic variations. An autoregressive moving average (ARMA) model is assumed for the oscillating signal. Its autoregressive part is fixed, and it is defined only by the nominal fundamental frequency. Its best moving average parameters are estimated with Shanks' method. These parameters provide the key information from which the phasor state vector is estimated through the partial fraction expansion of the ARMA rational polynomial. These estimates could be useful, not only for the monitoring and controlling of the power system, but also for discriminating between a fault and an oscillation state.
Identification of missing objects with group coding of RF tags

Physical objects often form a group such as objects in a shipping container. RFID enables us to identify each object and even the container itself. However, current RFID does not provide information on IDs missing from a group. This paper proposes a method to determine the unique IDs of objects missing from a group without any external database or verifier. The proposed method logically splits a group into mutually overlapped sub-groups and writes group-related information, which is generated from the unique IDs of objects in the subgroup, to RF tags' memory. When we check the integrity of a group of objects, unique IDs and group-related information of RF tags are extracted from RF tags' memory. With an iterative decoding over group-related information with the unique IDs of identified objects, missing IDs are determined. A numerical simulation reveals that the proposed method can identify 96-bit unique IDs of up to 64 objects missing from a group composed of 100 objects by writing 840-bit group-related information to each RF tag. We also examined the performance with an experiment and confirmed that we can successfully determine 16-bit IDs of up to 12 missing RF tags from a group of 20 RF tags by writing 280-bit group-related information to each RF tag. The experiment results agree well with the numerical simulation.
Successful chemotherapeutic modality of doxorubicin plus dacarbazine for the treatment of desmoid tumors in association with familial adenomatous polyposis.

PURPOSE Desmoid tumors are locally aggressive and can be fatal in familial adenomatous polyposis (FAP) patients if they are not suitable for surgery or radiation therapy. Here, we prospectively investigated the efficacy of a chemotherapeutic regimen involving doxorubicin (DOX) and dacarbazine (DTIC) for inoperable FAP-associated desmoid tumors. PATIENTS AND METHODS From an initial group of 120 FAP patients, seven of the 11 individuals with symptomatic unresectable desmoid tumors that were unresponsive to conventional hormone therapy were enrolled onto this study. The general chemotherapy regimen comprised four or five cycles of DOX (20 mg/m2 daily) plus DTIC (150 mg/m2 daily) throughout 4 days of drip intravenous infusion (day 1 through 4) every 28 days, followed by the cyclooxygenase-2 inhibitor meloxicam (10 mg/m2). The primary end point was relapse-free survival. The secondary end points included toxicity, clinical improvement, and tumor regression according to computed tomography. RESULTS Significant tumor regression was observed clinically and radiologically in all seven patients. Three patients showed a complete response. The average progression-free survival period was 74.0 months (range, 32.5 to 107.5 months). Three patients showed grade 3 adverse events with no treatment-related mortality. All seven patients survived and remained without tumor progression. An adenomatous polyposis coli germline-mutation analysis revealed no mutations in the specified regions. CONCLUSION A chemotherapeutic regimen of DOX plus DTIC followed by meloxicam is an effective and safe treatment for FAP-associated desmoid tumors. This modality should be considered for use as first-line chemotherapy in symptomatic desmoid tumors that are unresponsive to conventional medical therapy, due to the absence of useful presymptomatic markers.
Union learning representatives in the UK: activity, impact and organization

The debate over the significance of union learning representatives (ULRs) in the UK has become increasingly polarized. Some commentators see little prospect of ULRs contributing to advancing either workplace learning or union organization due to the constraints of neo-liberal state policy. An opposing view emphasizes union agency in developing a collective approach to learning and extended joint regulation through a process of critical engagement. This article presents analysis of data from the 2009 National Survey of ULRs, which finds a positive relationship between ULR activity and its impact in enhancing training outcomes, increasing union membership and the joint regulation of workplace learning. This supports arguments that agency of ULRs is not inevitably suppressed by the structural limitations of union learning.
Quantity and quality of sleep in the surgical intensive care unit: are our patients sleeping?

BACKGROUND The lack of adequate sleep during intensive care unit (ICU) admission is a frequently overlooked complication. Disrupted sleep is associated with immune system dysfunction, impaired resistance to infection, as well as alterations in nitrogen balance and wound healing. The effects of surgical ICU admission on patients' sleep quality and architecture remain poorly defined. The purpose of this study was to describe the quantity and quality of sleep as well as sleep architecture, as defined by polysomnography (PSG), in patients cared for in the surgical ICU. METHODS A prospective observational cohort study was performed at our urban Level I trauma center. A convenience sample of surgical or trauma ICU patients underwent continuous PSG for up to 24 hours to evaluate sleep patterns. A certified sleep technician performed, monitored, and scored all PSG recordings. A single neurologist trained in PSG interpretation reviewed all PSG recordings. chi goodness-of-fit analysis was performed to detect differences in the proportion of time spent in stages 1 and 2 (superficial stages), stages 3 and 4 (deep stages), or rapid eye movement (REM) sleep between study patients and healthy historical controls. All PSG recordings were performed greater than 24 hours after the administration of a general anesthetic. Patients with traumatic brain injury were excluded. RESULTS Sixteen patients were selected to undergo PSG recordings. Median age was 37.5 years (range, 20-83), 81.3% were male patients, 62.5% were injured, and 31.3% were mechanically ventilated. Total PSG recording time was 315 hours (mean, 19.7 hours per patient), total sleep time captured by PSG was 132 hours (mean, 8.28 hours per patient), and there were 6.2 awakenings per hour of sleep measured. ICU patients had an increase in the proportion of time spent in the superficial stages of sleep, and a decrease in the proportion of time spent in the deeper stages of sleep as well as a decrease in REM sleep compared with healthy controls (p < 0.001). CONCLUSIONS Patients do achieve measurable sleep while cared for in a surgical ICU setting. However, sleep is fragmented and the quality of sleep is markedly abnormal with significant reductions in stages 3 and 4 and REM, the deeper restorative stages of sleep. Further studies on the effects of a strategy to promote sleep during ICU care are warranted.
Hypothetical Bias, Consequentiality and Choice Experiments

The presence of hypothetical bias in stated preference methods has led many researchers to look for methods to ameliorate the bias. This paper investigates the use of a consequentiality question to calibrate stated preference data from a controlled laboratory experiment using a choice experimental framework. Results suggest evidence of hypothetical bias using a likelihood ratio test, however, when comparing marginal willingness to pay results statistical evidence of the bias is not found. The finding of equal marginal willingness to pay could be due to the high number of participants who perceived the survey as potentially consequential.
Caractéristiques métabolomiques et expression des biomarqueurs urinaires des patients développant une insuffisance rénale aiguë post circulation extracorporelle

Objectif : l’agression renale aigue (ARA) est une complication majeure apres une chirurgie cardiaque sous circulation extra corporelle (CEC). Les biomarqueurs predictifs d’ARA ne semblent pas specifiques apres une CEC. L’analyse de la variation du metabolome urinaire pourrait ainsi etre une approche diagnostique d’ARA. L’objectif principal de cette etude est de caracteriser les variations du metabolome urinaire pendant la CEC. Les objectifs secondaires sont l’evaluation des facteurs de risques d’ARA post CEC et l’evaluation de l’angiogenine urinaire et du NGAL urinaire comme biomarqueurs d’ARA post CEC. Materiel et methodes : tous les patients programmes operes d’une chirurgie cardiaque sous CEC entre le 17/02/17 et le 26/04/17 ont ete inclus. Le principal critere de non inclusion etait un debit de filtration glomerulaire preoperatoire inferieur a 30ml/min/1,73m2. Un echantillon urinaire etait preleve en pre, post CEC et a J1. L’ARA etait determinee selon la classification KDIGO. Le metabolome urinaire etait analyse par spectrometrie par resonnance magnetique. NGAL et l’angiogenine urinaire (ANGu) etaient doses par methode ELISA. Resultats : 42 patients ont ete inclus, 28% ont developpe une ARA. Les facteurs de risque traditionnels d’ARA post CEC n’ont pas ete retrouves. Les patients qui modifiaient leur metabolome developpaient une ARA (46% vs 10%, p = 0.02). Le NGAL urinaire ne variait pas au cours de la CEC. L’ANGu variait durant la CEC (p=0.001). Conclusion: Les patients developpant une ARA post CEC ont une variation moindre du metabolome urinaire. Le NGAL urinaire ne variait pas durant la CEC. Nous n’avons pas retrouve les facteurs de risque habituels d’ARA.
Bradykinin and angiotensin-converting enzyme inhibition in cardioprotection angiotensin-converting enzyme EXPERIMENTAL

Röth. Bradykinin and inhibition in cardioprotection. Exp Clin Cardiol 2004; OBJECTIVES: To show that angiotensin-converting enzyme (ACE) inhibition potentiates subthreshold ischemic preconditioning (IPC) via the elevation of bradykinin activity, leading to a fully delayed cardioprotective response. METHODS: On day 1 of the experiment, pigs were subjected to sham (group 1, controls) or IPC protocols. In groups 2 and 3, 4 × 5 min and 2 × 2 min of IPC, respectively, were elicited by occluding the left anterior descending coronary artery with percutaneous transluminal coronary angioplasty inflatable balloon catheter. Group 4 was subjected to the ACE inhibitor perindoprilate only. In group 5, the pigs were pretreated with perindoprilate (0.06 mg/kg) and then subjected to 2 × 2 min IPC. In group 6, intracoronary HOE 140 (a selective bradykinin B 2 receptor antagonist) was added before the perindoprilate-augmented subthreshold (2 × 2 min) PC stimulus. On the second day, all animals underwent 40 min left anterior descending coronary artery ligation and 3 h reperfusion, followed by infarct size analysis using triphenyl tetrazolium chloride staining. RESULTS: The rates of infarct size and risk zone were the following in the experimental groups: group 1, 42.8%; group 2,19.5% (P<0.05); group 3, ischemia/reperfusion (I/R) 33.4%; group 4, I/R 18.4% (P<0.05); group 5, I/R 31.2%; and group 6, I/R 36.3%. A significant increase of nuclear factor kappa B activation in groups 2 and 4 was seen. CONCLUSIONS: Results confirm that ACE inhibitors do not give total pharmacological IPC, but they enhance the induction effect of small ischemic insults, which raises the ischemic tolerance of myocardium. It was determined that enhanced bradykinin activity leads to downstream nuclear factor kappa B activation in this model. was induced with thiopentone sodium (10 mg/kg, intravenously) and was maintained with 1.0% to 1.5% isoflurane and a nitrous oxide/oxygen (2:3) gaseous mixture. Standard limb electrocardio-graphy, systemic blood pressure, arterial blood partial pressure of oxygen, partial pressure of carbon dioxide and pH were continu-ously monitored and were maintained within the physiological range.
Assessment of some renal indices in people occupationally exposed to lead

Exposure to lead has been reported to have adverse health implications. An assessment of renal function in people occupationally exposed to lead was carried out using the following biochemical markers urea, creatinine, sodium, potassium, chloride and bicarbonate. A total of 53 test subjects (mean age 30.9 ± 7.7) were randomly selected among some workers occupationally exposed to lead in Osogbo city and 42 apparently healthy subjects (mean age 30.1 ± 1.2) were used as controls. The plasma urea, creatinine, chloride and bicarbonate concentration were determined using modified Berthelot method, Jaffe’s reaction, Schales and Schales method and back titration methods, respectively. The plasma sodium and potassium concentrations were determined using flame emission spectrophotometry while blood lead level was also determined using atomic absorption spectrophotometry. The result showed significant increases in mean plasma concentration of creatinine (84.9 ± 13.6—97.4 ± 28.7 μmol/L), sodium (131.9 ± 3.9—134.8 ± 3.7 mmol/L) and chloride (98.2 ± 4.0—100.4 ± 3.9 mmol/L) in test subjects when compared with controls (p < 0.05). Furthermore, significant increases (p < 0.01) were observed in mean plasma concentration of urea (4.7 ± 1.2—5.7 ± 1.3 mmol/L) and blood lead levels (18.5 ± 3.5—69.7 ± 13.2 mg/L) in test subjects in comparison with controls. In contrast, there were no significant differences observed when mean plasma potassium and bicarbonate levels in test subjects were compared with controls (p > 0.05). These results indicate that occupational exposure to lead may compromise renal function.
Intrathecal magnesium as analgesic adjuvant for spinal anesthesia: a meta-analysis of randomized trials.

BACKGROUND The efficacy and safety of intrathecal magnesium as analgesic adjuvant has been tested by several clinical trials in recent years. We performed a meta-analysis of the available literature. METHODS Randomized clinical trials comparing a 50 to 100 mg dose of intrathecal magnesium sulfate versus placebo in addition to an intrathecal local anesthetic and/or opiate for a below-umbilicus procedure were included. Medline, LILACS, Cochrane Library and Google Scholar databases were searched. A random analysis was performed and heterogeneity was tested for. The size of the effect for quantitative outcomes was calculated as standard mean difference (SMD, neutral=0); and as odds ratio (OR, neutral=1) for dichotomous outcomes. RESULTS Twelve studies totaling 817 patients were included. The "time to first analgesia request" was at least 35 minutes longer when intrathecal magnesium was included in the intervention (SDM 0.94, 95%CI 0.51 to 1.37, P<0.001). The "onset time to sensory block" (SDM 0.64, 95%CI 0.15 to 1.12, P=0.01) and the "time to maximal motor block" (SDM 0.97, 95%CI 0.28 to 1.67, P=0.006) were 2.4 minutes slower with intrathecal magnesium. There was no difference in "time to full motor recovery, incidence of pruritus, postoperative nausea and vomiting, bradicardia, low blood pressure and urinary retention". No cases of respiratory depression or neurotoxicity were recorded in these studies. CONCLUSION The inclusion of 50 to 100 mg of intrathecal magnesium in a spinal anesthetic prolongs opiate analgesia duration; no safety concerns have been identified by the included clinical studies but additional evidence is advised.
The involvement of the transcription factor Yin Yang 1 in cancer development and progression

The Yin Yang 1 (YY1) transcription factor has a pivotal role in normal biological processes such as development, differentiation, replication and cell proliferation exerting its effects on a huge number of genes involved in these processes. Mechanisms of YY1 action are related to its ability to initiate, activate, or repress transcription depending upon the context in which it binds. The role of YY1 played in cancer has been recently explored. This article summarizes the most relevant studies focused on YY1 regulation and dwells on the way how its overexpression may affect the clinical behaviour of several cancer types. Furthermore, the contribution of the up-regulation of YY1 exerted in response to therapeutic-induced apoptosis is discussed.
KINERJA KEUANGAN SEBAGAI PEMEDIASI PENGARUH INTENSITAS RESEARCH AND DEVELOPMENT DAN ASET TIDAK BERWUJUD PADA NILAI PERUSAHAAN

The purpose of this study is to understand the influence of R&D and intangible assets to a firm’s value with return on assets as a mediation variable. This study is conducted in a manufacture companies listed in Indonesian stock exchange from 2012 to 2014. Method of sample selection that used in this study is purposive sampling with four criteria. Decent samples to be observed are 30 companies. Analysis method used in this study is path analysis. The result of this study show that (1) R&D intensity and INTAV affect firm’s value, (2) R&D intensity and INTAV affect financial performance, (3) Financial affect firm’s value, (4) Financial performance fail to mediate the influence between R&D intensity and intangible assets on firm’s value.
Combined Evaluations of Competency to Stand Trial and Mental State at the Time of the Offense: An Overlooked Methodological Consideration?

Combined evaluations of competency to stand trial (CST; competency) and mental state at the time of the offense (MSO; sanity) frequently co-occur. However, most research examines the 2 as discrete constructs without considering 4 potential combined evaluation outcomes: competent-sane, incompetent-sane, competent-insane, and incompetent-insane. External validity can be improved if research more closely mirrored practice. It may be incorrect to assume incompetent defendants are similar across CST-only and combined evaluations, and insane defendants are similar across MSO-only and combined evaluations. Using a sample of 2,751 combined evaluations, we examined demographic, clinical, offense, evaluation, and psycholegal characteristics associated with evaluators’ combined evaluation opinions. Multinomial regression analyses revealed older defendants were more likely to be opined incompetent-insane. Defendants with psychotic disorders were more often opined insane, regardless of competency status. Affective diagnoses predicted competent-insane opinions. Developmental disorders were closely related to incompetence, regardless of sanity status. Defendants with organic disorders tended to have global psycholegal impairment, in that they were more often opined incompetent-insane, incompetent-sane, or competent-insane, relative to competent-sane. Prior hospitalization predicted competent-insane relative to competent-sane opinions. Defendants not under the influence of a substance during the offense or with no prior convictions were more likely to be opined insane, regardless of competency status. We interpret these findings in light of psycholegal theory and provide recommendations for research and practice. Collectively, results suggest incorporation of combined evaluations into CST and MSO research is an important methodological consideration not to be overlooked.