Miracle-dz/UniFAR-FTUs huggingface dataset:
Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism

Aldosterone plays a key role in electrolyte balance and blood pressure regulation. Type 1 pseudohypoaldosteronism (PHA1) is a primary form of mineralocorticoid resistance characterized in the newborn by salt wasting, hyperkalemia, and failure to thrive. Inactivating mutations of the mineralocorticoid receptor (MR; NR3C2) are responsible for autosomal dominant and some sporadic cases of PHA1. The question as to whether other genes may be involved in the disease is of major importance because of the potential life‐threatening character of the disease, the potential cardiovascular effects of compensatory aldosterone excess, and the role of the mineralocorticoid system in human hypertension. We present the first comprehensive study seeking nucleotide substitutions in coding regions, intron–exon junctions, and untranslated exons, as well as for large deletions. A total of 22 MR gene abnormalities were found in 33 patients. We demonstrate that MR mutations are extremely frequent in PHA1 patients classified according to aldosterone and potassium levels and give indications for accurate clinical and biological investigation. In our study the possibility of a genocopy exists in three PHA1 kindreds. The other patients without MR mutations might have different diseases resembling to PHA1 in the neonatal period, which could be identified by extensive clinical and functional exploration. Hum Mutat 28(1), 33–40, 2007. © 2006 Wiley‐Liss, Inc.
The impact of approaches in improving male partner involvement in the prevention of mother-to-child transmission of HIV on the uptake of maternal antiretroviral therapy among HIV-seropositive pregnant women in sub-Saharan Africa: a systematic review and meta-analysis

Objectives To identify the approaches that are used in improving on male partner involvement in the prevention of mother-to-child transmission (PMTCT) of HIV and their impact on the uptake maternal antiretroviral therapy (ART) in sub-Saharan Africa (SSA). Setting This was a systematic review and meta-analysis of published studies carried out in SSA at all levels of healthcare (primary, secondary, tertiary and community). Participants The participants of the studies included were HIV-positive pregnant women and breastfeeding mothers with their male partners. Studies were included if they were conducted in SSA and mentioned an approach used in improving male partner involvement with data on the impact on the uptake of maternal ART uptake. Outcomes In the protocol, maternal ART uptake, infant prophylaxis, safe infant feeding options, condom use and family planning were envisaged. However, only maternal ART has been reported here due to limitations on the word count. Results From an initial 2316 non-duplicate articles, 17 articles were included in the systematic review and meta-analysis. In the combined model, the ORs for complex community interventions, enhanced psychosocial interventions, verbal encouragement and invitation letters were 4.22 (95% CI 2.27 to 7.77), 2.29 (95% CI 1.42 to 7.69), 2.39 (95% CI 1.26 to 4.53) and 1.21 (95% CI 0.89 to 1.63), respectively, whereas in the model using adjusted ORs, enhanced psychosocial interventions had a higher effect than any other intervention. The heterogeneity was moderate using adjusted ORs. Conclusion Enhanced psychosocial interventions and complex community interventions increase male partner involvement and the uptake of PMTCT services more than any other intervention. Invitation letters had no effect. More randomised trials and observational studies (that have adjusted for potential confounders) are needed in the future. PROSPERO registration number 42016032673.
The negative impact of public sector-led redevelopment projects on the prices of old and new housing units in high density urban areas

Abstract Besides the well-known positive impacts of public sector-led urban redevelopment projects on housing prices in their vicinity, we found that there were less noticeable negative impacts on the prices of very new and old housing units nearby, especially in high density urban areas where housing is mainly in the form of multiple-owned high-rise apartment units. First, the prices of older housing units declined faster after the announcement of a nearby public sector-led development. We explain this by decomposing the value of the property into existing use value and real redevelopment option value. The latter component was significantly reduced by a nearby public sector-led redevelopment. Second, for the very new nearby housing units, their prices also declined when there was nearby redevelopment due to an expected increase in the supply of new housing units. Based on second-hand housing transaction records in the vicinity of public sector-led redevelopment projects over a 12-year period, we were able to isolate the above negative impacts from other external effects. The empirical results support the existence of both negative impacts of public sector-led urban redevelopment projects.
The Effectiveness of Hearing Protection Among Construction Workers

Effective hearing conservation programs in the construction industry are rare. Where programs are present, they often rely on workers' use of hearing protection devices (HPDs) rather than on exposure controls to reduce noise exposure levels. Dependence on HPDs for protection from high noise is problematic, as the protection provided by the HPD depends on both the HPD's attenuation level and the time the HPD is used. This article presents an analysis of data on noise exposure and hearing protection among construction workers drawn from several large datasets covering nine construction trades. A unique combination of 1-min dosimetry noise exposure levels and simultaneous self-reported use of HPDs was evaluated, as were occupational and nonoccupational HPD use data collected by questionnaire as part of a longitudinal study of noise exposure and hearing loss among apprentices. Direct measurements of HPD attenuation were also made on workers at their work site. The workers assessed in this study were found to use hearing protection less than one-quarter of the time that they were exposed above 85 dBA. Workers who reported “always” using HPDs in high noise on questionnaires were found to wear them only one-third of the time their exposures exceeded 85 dBA. Workers' self-reported use of HPDs during most noisy nonoccupational activities was also found to be low. Direct attenuation measurements found that workers were able to achieve more than 50% of the rated attenuation of their HPD on average, but that the variability in achieved attenuation was large. When the measured HPD attenuation levels and use time data were combined, the effective protection afforded by HPDs was less than 3 dB, a negligible amount given the high exposure levels associated with construction work. However, there was substantial variation in effective protection among the different trades assessed. These results demonstrate the need for better hearing conservation programs and expanded noise control efforts in the construction industry.
Distributed fuzzy discrete event system for robotic sensory information processing

Abstract: This paper presents a novel intelligent sensory information processing technique using a fuzzy discrete event system (FDES) for robotic control. The proposed method combines the predictive control approach of a discrete event system with the approximate reasoning aspect of fuzzy logic. It develops a supervisory control strategy for behavior‐based robotic control using distributed FDES. The application of distributed FDES eliminates the formation of complex fuzzy predicates and a large fuzzy rule‐base. The FDES‐based approach also provides means for analyzing behavior‐based decision‐making using the observability and controllability of an FDES. The observability of an FDES describes uncertainties in sensory data, and the controllability of an FDES exploits uncertain state transitions in a dynamic environment. Comprehensive experiments on behavior‐based mobile robot navigation are presented to authenticate the performance of the proposed methodology.
Characterization of promoter regions involved in high expression of KlCYC1.

Functional analysis of the KlCYC1 promoter reveals that sequences located upstream to those already published [Freire-Picos, M. A. , Rodríguez-Torres, A. M. , Ramil, E. , Cerdán, M. E. , Breuning, K. D. , Hollenberg, C. P. & Zitomer, R. S. (1993) Sequence of a cytochrome c from Kluyveromyces lactis and its upstream region, Yeast 9, 201-204] and extending from positions -780 to -371 are important for maintaining high levels of expression, although this region contains both negative and positive elements. A consensus sequence for interaction with KlCpf1p is present at position -492, into the negative site, and specific protein binding to KlCpf1p has been demonstrated. Deletion of the sequences from positions -413 to -338 diminishes KlCYC1 transcription; protein binding to two sequences included in this activator region is detected and several points of evidence indicate that the complex observed is different from the Hap2/3/4/5p complex. Binding of KlCpf1p and the activator complex to the promoter is constitutive in different carbon sources. Although the promoter contains CCAAT boxes, directed mutagenesis has revealed that they are not related to the moderate de-repression observed in glycerol media.
Semantic video abstracting for video selection management

Video streams generate the better part of the internet traffic due to platforms such as YouTube and Youku in China. A novel genre-adaptive solution is presented in this paper benefitting from an interdisciplinary approach combining image and sound processing features from Pattern Recognition with high-level concepts from Mass Communications. It is shown that it is possible to automatically analyze videos for bundles of syntactical features which represent semantic high-level concepts which are typical for certain genres. In this way, semantic concepts called “Key Visuals” [1] as well as generic semantic concepts with obvious relevance to certain genres can be identified and classified in videos. Once identified it is possible to use the video shots assigned to these semantic concepts to create video abstracts by a dramaturgical synthesis of video shots which can serve the purpose of trailers to inform prospective viewers though such a “trailer” about the content of videos. Other applications could be semantic video retrieval based on the identified semantic features. We describe the concepts of a system capable of automatically generating quite convincing video trailers for some important genres by using low-level audio and video processing algorithms, context-based knowledge and a rule-based system.
Pleistocene refugia in an arid landscape: analysis of a widely distributed Australian passerine

While many studies have documented the effect that glacial cycles have had on northern hemisphere species, few have attempted to study the associated effect of aridification at low latitudes in the southern hemisphere. We investigated the past effects that cyclic aridification may have had on the population structure and history of a widespread endemic Australian bird species, the Australian magpie (Gymnorhina tibicen). One thousand one hundred and sixty‐six samples from across its native range were analysed for mitochondrial control region sequence variation and variation at six microsatellite loci. Analysis of mitochondrial control region sequence data indicated monophyletic clades that were geographically congruent with an eastern and western region. The contemporary distribution of east and west clades is nonoverlapping but in close proximity. Populations were estimated to have diverged in the Pleistocene around 36 000 years ago. The putative Carpentarian and Nullarbor arid barriers appear to be associated with the divergence between east and west mainland populations. Nested clade analysis indicated a signature of range expansion in the eastern region suggesting movement possibly inland and northward subsequent to the last period of aridity. The island population of Tasmania was of very recent origin, possibly since sea levels rose 16 000 years ago. Given the east‐west structure, there was no congruence between morphology and recent history of this species indicating a lack of support for morphological taxa. Overall mitochondrial DNA and microsatellite variation suggest that increasing aridity and Pleistocene refugia played a role in structuring populations of the Australian magpie; however, the dispersal ability and generalist habitat requirements may have facilitated the movement of magpies into an almost contiguous modern distribution across the continent. This study supports the idea that Pleistocene aridification played an important role in structuring intraspecific variation in low latitudinal southern hemisphere avian species.
Temporal Trends and Molecular Epidemiology of HIV‐1 Infection in Taiwan From 1988 to 1998

Summary: Eight hundred and seventy‐nine HIV‐1‐infected patients (comprising 46% of reported HIV‐1/AIDS cases in Taiwan) were recruited for this study of the molecular epidemiology of HIV‐1 in Taiwan from 1988 to 1998. HIV‐1 subtypes were determined using a modified peptide‐enzyme immunoassay complemented with DNA sequencing and phylogenetic analysis. Of the 807 HIV‐1 infected men, 68.2% were infected with HIV‐1B, 29.5% with HIV‐1 circulating recombinant form (CRF)01_AE and 2.3% with other subtypes. Of the 72 HIV‐1‐infected women, 72.2% were infected with HIV‐1 CRF01_AE, 13.9% with HIV‐1B, and 13.9% with other subtypes. All of 8 foreign‐born, Southeast Asian women and 6 of 7 (85.7%) Taiwan‐native female commercial sex workers were infected with HIV‐1 CRF01_AE. Fourteen of the 33 (42.4%) heterosexual married men with CRF01_AE had transmitted HIV‐I to their wives, whereas only 1 of 17 (5.9%) men with HIV‐1 B had transmitted HIV‐1 to their spouses (p < .01). Of 18 heterosexual male injecting drug users, 1 of 12 (8.5%) with HIV‐IB and 5 of 6 (83.3%) with HIV‐1 CRF01_AE had had sexual contact with female commercial sex workers (p < .01). Therefore, in this population, CRF01_AE was preferentially associated with heterosexual risk groups, a finding compatible with differences in transmission capability between B and non‐B subtypes.
RETROFITTING OF EXISTING RC SQUARE BRIDGE COLUMNS USING BASALT FRP REBARS

Fiber-reinforced polymers (FRPs) have been widely utilized to improve the seismic performance of deficient reinforced concrete (RC) columns. In recent years, one of the emerging types of FRPs used is basalt fibers. In this study, the performance of existing columns was experimentally examined before and after applying near-surface mounted (NSM) basalt FRP (BFRP) rebars as a retrofitting technique. Three specimens, representing a deficient square RC bridge column with poor transverse reinforcement detailing, were tested under cyclic displacement excursions and constant axial load. Since bond is the means for the transfer of stress between the concrete and the FRP reinforcement to develop the composite action, one column was retrofitted with smooth NSM BFRP rebars and another with deformed NSM BFRP rebars. The preliminary test results showed that using smooth BFRP rebars could lead the strengthened column to achieve the highest lateral drift meanwhile the column can still carry load after the steel reinforcement yields. On the other hand, the favorable mitigation of the column permanent deformation could be when rebars with rough texture are used.
Broad spectrum assessment of psychopathology and adaptive functioning with the Older Adult Behavior Checklist: a validation and diagnostic discrimination study

Self‐administered by spouses and other collateral informants, the nationally normed Older Adult Behavior Checklist (OABCL) provides standardized data on diverse aspects of older adult psychopathology and adaptive functioning. We tested the validity of the Older Adult Behavior Checklist (OABCL) scale scores in terms of associations with diagnoses of dementia of the Alzheimer's type (DAT) and mood disorders (MD) and with nine measures of psychopathology, cognitive performance, and adaptive functioning.
Estimation of Speech Intelligibility Using Speech Recognition Systems

We attempted to estimate subjective scores of the Japanese Diagnostic Rhyme Test (DRT), a two-to-one forced selection speech intelligibility test. We used automatic speech recognizers with language models that force one of the words in the word-pair, mimicking the human recognition process of the DRT. Initial testing was done using speaker-independent models, and they showed significantly lower scores than subjective scores. The acoustic models were then adapted to each of the speakers in the corpus, and then adapted to noise at a specified SNR. Three different types of noise were tested: white noise, multi-talker (babble) noise, and pseudo-speech noise. The match between subjective and estimated scores improved significantly with noise-adapted models compared to speaker-independent models and the speaker-adapted models, when the adapted noise level and the tested level match. However, when SNR conditions do not match, the recognition scores degraded especially when tested SNR conditions were higher than the adapted noise level. Accordingly, we adapted the models to mixed levels of noise, i.e., multi-condition training. The adapted models now showed relatively high intelligibility matching subjective intelligibility performance over all levels of noise. The correlation between subjective and estimated intelligibility scores increased to 0.94 with multi-talker noise, 0.93 with white noise, and 0.89 with pseudo-speech noise, while the root mean square error (RMSE) reduced from more than 40 to 13.10, 13.05 and 16.06, respectively.
Mining cross product line rules with multi-objective search and machine learning

Nowadays, an increasing number of systems are being developed by integrating products (belonging to different product lines) that communicate with each other through information networks. Cost-effectively supporting Product Line Engineering (PLE) and in particular enabling automation of configuration in PLE is a challenge. Capturing rules is the key for enabling automation of configuration. Product configuration has a direct impact on runtime interactions of communicating products. Such products might be within or across product lines and there usually don't exist explicitly specified rules constraining configurable parameter values of such products. Manually specifying such rules is tedious, time-consuming, and requires expert's knowledge of the domain and the product lines. To address this challenge, we propose an approach named as SBRM that combines multi-objective search with machine learning to mine rules. To evaluate the proposed approach, we performed a real case study of two communicating Video Conferencing Systems belonging to two different product lines. Results show that SBRM performed significantly better than Random Search in terms of fitness values, Hyper-Volume, and machine learning quality measurements. When comparing with rules mined with real data, SBRM performed significantly better in terms of Failed Precision (18%), Failed Recall (72%), and Failed F-measure (59%).
Regulatory role of the second gelsolin‐like domain of Caenorhabditis elegans gelsolin‐like protein 1 (GSNL‐1) in its calcium‐dependent conformation and actin‐regulatory activities

Caenorhabditis elegans gelsolin‐like protein‐1 (GSNL‐1) is an unconventional member of the gelsolin family of actin‐regulatory proteins. Unlike typical gelsolin‐related proteins with three or six G domains, GSNL‐1 has four gelsolin‐like (G) domains (G1–G4) and exhibits calcium‐dependent actin filament severing and capping activities. The first G domain (G1) of GSNL‐1 is necessary for its actin‐regulatory activities. However, how other domains in GSNL‐1 participate in regulation of its functions is not understood. Here, we report biochemical evidence that the second G domain (G2) of GSNL‐1 has a regulatory role in its calcium‐dependent conformation and actin‐regulatory activities. Comparison of the sequences of gelsolin‐related proteins from various species indicates that sequences of G2 are highly conserved. Among the conserved residues in G2, we focused on D162 of GSNL‐1, since equivalent residues in gelsolin and severin are part of the calcium‐binding sites and is a pathogenic mutation site in human gelsolin causing familial amyloidosis, Finish‐type. The D162N mutation does not alter the inactive and fully calcium‐activated states of GSNL‐1 for actin filament severing (at 20 nM GSNL‐1) and capping activities (at 50 nM GSNL‐1). However, under these conditions, the mutant shows reduced calcium sensitivity for activation. By contrast, the D162N mutation strongly enhances susceptibility of GSNL‐1 to chymotrypsin digestion only at high calcium concentrations but not at low calcium concentrations. The mutation also reduces affinity of GSNL‐1 with actin monomers. These results suggest that G2 of GSNL‐1 functions as a regulatory domain for its calcium‐dependent actin‐regulatory activities by mediating conformational changes of the GSNL‐1 molecule. © 2013 Wiley Periodicals, Inc
Comparison of cytokine secretion profiles provoked in mice by glutaraldehyde and formaldehyde

Glutaraldehyde and formaldehyde are commonly used sterilizing agents that are known skin sensitizers. There is some controversy, however, regarding their capacity to cause respiratory allergy. The authors have demonstrated previously that topical exposure of mice to chemical contact allergens such as 2,4‐dinitrochlorobenzene (DNCB) or respiratory allergens such as trimellitic anhydride (TMA) induces characteristic cytokine secretion profiles consistent with the selective activation of T helper 1 (TH1)‐ and TH2‐type cells, respectively.
Development of F-18-labeled fluoroerythronitroimidazole as a PET agent for imaging tumor hypoxia.

PURPOSE To develop a hydrophilic ligand to image tumor hypoxia at positron emission tomography (PET). MATERIALS AND METHODS Biodistribution of fluorine-18-labeled fluoroerythronitroimidazole (FETNIM) and F-18-labeled fluoromisonidazole (FMISO) was determined at PET and autoradiography in three mammary-tumor-bearing rats. The partition coefficient of FETNIM, FMISO, and misonidazole was determined. RESULTS Biodistribution of F-18-labeled FETNIM at 1, 2, and 4 hours showed tumor-to-blood ratios of 2.29 +/- 0.599, 2.41 +/- 0.567 and 8.02 +/- 2.420, respectively, and tumor-to-muscle ratios of 0.66 +/- 0.267, 2.11 +/- 0.347, and 5.92 +/- 2.240, respectively. The tumor-to-blood count density ratio with F-18-labeled FETNIM at 4 hours after injection was significantly higher than with F-18-labeled FMISO. Autoradiographs indicated that both agents could help differentiate hypoxic versus necrotic region in the tumor. CONCLUSION F-18-labeled FETNIM can help detect tumor hypoxia and is easier to prepare, less costly, and more hydrophilic than F-18-labeled FMISO.