Miracle-dz/UniFAR-FTUs huggingface dataset:
Genetic epidemiological studies of early-onset deafness in the U.S. school-age population.

Profound, early-onset deafness is present in 4-11 per 10,000 children, and is attributable to genetic causes in at least 50% of cases. Family history questionnaires were sent to 26,152 families of children with profound, early-onset deafness not known to be related to an environmental cause. The probands were ascertained through the 1988-89 Gallaudet University Annual Survey of Hearing Impaired Children and Youth. The analysis is based on the responses that were received from 8,756 families. Classical segregation analysis was used to analyze the family data, and to estimate the proportions of sporadic, recessive and dominant causes of deafness in the families. These data were consistent with 37.2% of the cases due to sporadic causes, and 62.8% due to genetic causes (47.1% recessive, and 15.7% dominant). An earlier study using the 1969-70 Annual Survey found 49.3% sporadic cases and 50.6% genetic, demonstrating that the proportion of sporadic cases of early-onset deafness has significantly decreased since 1970.
Teaching computer networks in a real network: the technical perspectives

Experimenting in courses such as operating systems, computer networks, and distributed systems is challenging due to the need to access system kernels and network infrastructures, as well as the distributed nature of these experiments. In this paper, we design and develop a laboratory platform that can be rapidly and economically adopted in any educational institutions to teach introductory computer networks courses. By using commercial, off-the-shelf hardware and open-source software, and together with our technical solutions, the platform gives students an opportunity to experiment in a real, flexible and scalable network, and to interact with the network both as a network user and more importantly as a network operator. These features can help students to better understand the algorithms, protocols and practice of computer networks. This easy-to-use lab platform has been received favorably by students. Also, the low-cost platform is easy to maintain, and can be repeatedly used in multiple, back-to-back lab sections.
High-Quality Optical Frequency Comb by Spectral Slicing of Spectra Broadened by SPM

This paper introduces a spectral slicing technique that extends the useful spectral range of frequency combs generated through self-phase modulation (SPM) of mode-locked laser pulses. When generating frequency combs by SPM, the spectral range with high-quality carriers is usually limited due to spectral minima carrying too little power. To overcome these limitations, we combine suitable slices of broadened and nonbroadened spectra. The concept was experimentally verified: A total number of 325 consecutive equidistant subcarriers span a bandwidth of 4 THz. All subcarriers have an optical carrier-power-to-noise-power-density ratio (OCNR) larger than 25.8 dB (0.1 nm) and were derived from one mode-locked laser with a mode linewidth of approximately 1 kHz. The signal quality of the comb and in particular of each subcarrier was ultimately tested in a terabit-per-second communication experiment. The comb quality allowed us to transmit 32.5 Tb/s over 225 km with 100 Gb/s dual polarization 16-ary quadrature amplitude modulation (16QAM) signals on each of the subcarriers.
The Perfect Storm of Information: Combining Traditional and Non-Traditional Data Sources for Public Health Situational Awareness During Hurricane Response

Background: Hurricane Isaac made landfall in southeastern Louisiana in late August 2012, resulting in extensive storm surge and inland flooding. As the lead federal agency responsible for medical and public health response and recovery coordination, the Department of Health and Human Services (HHS) must have situational awareness to prepare for and address state and local requests for assistance following hurricanes. Both traditional and non-traditional data have been used to improve situational awareness in fields like disease surveillance and seismology. This study investigated whether non-traditional data (i.e., tweets and news reports) fill a void in traditional data reporting during hurricane response, as well as whether non-traditional data improve the timeliness for reporting identified HHS Essential Elements of Information (EEI). Methods: HHS EEIs provided the information collection guidance, and when the information indicated there was a potential public health threat, an event was identified and categorized within the larger scope of overall Hurricane Issac situational awareness. Tweets, news reports, press releases, and federal situation reports during Hurricane Isaac response were analyzed for information about EEIs. Data that pertained to the same EEI were linked together and given a unique event identification number to enable more detailed analysis of source content. Reports of sixteen unique events were examined for types of data sources reporting on the event and timeliness of the reports. Results: Of these sixteen unique events identified, six were reported by only a single data source, four were reported by two data sources, four were reported by three data sources, and two were reported by four or more data sources. For five of the events where news tweets were one of multiple sources of information about an event, the tweet occurred prior to the news report, press release, local government\emergency management tweet, and federal situation report. In all circumstances where citizens were reporting along with other sources, the citizen tweet was the earliest notification of the event. Conclusion: Critical information is being shared by citizens, news organizations, and local government representatives. To have situational awareness for providing timely, life-saving public health and medical response following a hurricane, this study shows that non-traditional data sources should augment traditional data sources and can fill some of the gaps in traditional reporting. During a hurricane response where early event detection can save lives and reduce morbidity, tweets can provide a source of information for early warning. In times of limited budgets, investing technical and personnel resources to efficiently and effectively gather, curate, and analyze non-traditional data for improved situational awareness can yield a high return on investment.
Biotin ligase tagging identifies proteins proximal to E-cadherin, including lipoma preferred partner, a regulator of epithelial cell–cell and cell–substrate adhesion

ABSTRACT Known proteins associated with the cell-adhesion protein E-cadherin include catenins and proteins involved in signaling, trafficking and actin organization. However, the list of identified adherens junction proteins is likely to be incomplete, limiting investigation into this essential cell structure. To expand the inventory of potentially relevant proteins, we expressed E-cadherin fused to biotin ligase in MDCK epithelial cells, and identified by mass spectrometry neighboring proteins that were biotinylated. The most abundant of the 303 proteins identified were catenins and nearly 40 others that had been previously reported to influence cadherin function. Many others could be rationalized as novel candidates for regulating the adherens junction, cytoskeleton, trafficking or signaling. We further characterized lipoma preferred partner (LPP), which is present at both cell contacts and focal adhesions. Knockdown of LPP demonstrated its requirement for E-cadherin-dependent adhesion and suggested that it plays a role in coordination of the cell–cell and cell–substrate cytoskeletal interactions. The analysis of LPP function demonstrates proof of principle that the proteomic analysis of E-cadherin proximal proteins expands the inventory of components and tools for understanding the function of E-cadherin.
Visual Face Recognition Using Bag of Dense Derivative Depth Patterns

A novel biometric face recognition algorithm using depth cameras is proposed. The key contribution is the design of a novel and highly discriminative face image descriptor called bag of dense derivative depth patterns (Bag-D3P). This descriptor is composed of four different stages that fully exploit the characteristics of depth information: 1) dense spatial derivatives to encode the 3-D local structure; 2) face-adaptive quantization of the previous derivatives; 3) multibag of words that creates a compact vector description from the quantized derivatives; and 4) spatial block division to add global spatial information. The proposed system can recognize people faces from a wide range of poses, not only frontal ones, increasing its applicability to real situations. Last, a new face database of high-resolution depth images has been created and made it public for evaluation purposes.
Opportunities for Translational Epidemiology: The Important Role of Observational Studies to Advance Precision Oncology

Within current oncology practice, several genomic applications are being used to inform treatment decisions with molecularly targeted therapies in breast, lung, colorectal, melanoma, and other cancers. This commentary introduces a conceptual framework connecting the full spectrum of biomedical research disciplines, including fundamental laboratory research, clinical trials, and observational studies in the translation of genomic applications into clinical practice. The conceptual framework illustrates the contribution that well-designed observational epidemiologic studies provide to the successful translation of these applications, and characterizes the role observational epidemiology plays in driving the dynamic and iterative bench-to-bedside, and bedside-to-bench translation continuum. We also discuss how the principles of this conceptual model, emphasizing integration of multidisciplinary research, can be applied to the evolving paradigm in “precision oncology” focusing on multiplex tumor sequencing, and we identify opportunities for observational studies to contribute to the successful and efficient translation of this paradigm.Cancer Epidemiol Biomarkers Prev; 24(3); 484–9. ©2015 AACR.
Comparative effects of vitamin K2 and vitamin E on experimental arteriosclerosis.

The comparative effects of vitamin K2 and vitamin E on aortic calcium (Ca) and inorganic phosphorus (P) levels in the aorta and the elastin fraction (fr.) were investigated in male rats after experimental arteriosclerosis was induced by vitamin D2 with atherogenic diet. Both vitamin K2 (100 mg/kg b.w.) and vitamin E (40 mg/kg b.w.) inhibited the increase of Ca and P in the aorta and the elastin fr. from the arteriosclerotic rats. Vitamin K2 (50 mg/kg b.w.) also suppressed the deposition of Ca and P in the aorta, but there was no change due to vitamin K3 or geranylgeraniol (side chain of vitamin K2) administration. Both vitamin K2 and vitamin E showed lipid radical scavenging activity in the in vitro experiment. However, neither vitamin K3 nor geranylgeraniol exhibited anti-arteriosclerotic or radical scavenging activity under the above experimental conditions. It is suggested that vitamin K2 and vitamin E promoted an antiarteriosclerotic effect by radical scavenging activity. These actions of vitamin K2 are required in the structure of 2-methylnaphtoquinone and its side chain (geranylgeraniol).
Towards a Simple Relationship to Estimate the Capacity of Static and Mobile Wireless Networks

Extensive research has been done on studying the capacity of wireless multi-hop networks. These efforts have led to many sophisticated and customized analytical studies on the capacity of particular networks. While most of the analyses are intellectually challenging, they lack universal properties that can be extended to study the capacity of a different network. In this paper, we sift through various capacity-impacting parameters and present a simple relationship that can be used to estimate the capacity of both static and mobile networks. Specifically, we show that the network capacity is determined by the average number of simultaneous transmissions, the link capacity and the average number of transmissions required to deliver a packet to its destination. Our result is valid for both finite networks and asymptotically infinite networks. We then use this result to explain and better understand the insights of some existing results on the capacity of static networks, mobile networks and hybrid networks and the multicast capacity. The capacity analysis using the aforementioned relationship often becomes simpler. The relationship can be used as a powerful tool to estimate the capacity of different networks. Our work makes important contributions towards developing a generic methodology for network capacity analysis that is applicable to a variety of different scenarios.
Bio-Inspired Adaptive Control for Active Knee Exoprosthetics

On the quest to bring function of prosthetic legs closer to their biological counterparts, the intuitive interplay of their control with the user’s impedance modulation is key. We present two control features to enable more physiological and more user-adaptive control of prosthetic legs: a neuromusculoskeletal impedance model (<inline-formula> <tex-math notation="LaTeX">$NeurImp $ </tex-math></inline-formula>) including a reflexive component, and a human model reference adaptive controller (<inline-formula> <tex-math notation="LaTeX">$HuMRAC $ </tex-math></inline-formula>), which can be combined with the former. In stance-phase simulations, the <inline-formula> <tex-math notation="LaTeX">$NeurImp $ </tex-math></inline-formula> allowed to control a prosthetic leg with physiological knee joint angle and moment. When perturbations were applied, the <inline-formula> <tex-math notation="LaTeX">$HuMRAC $ </tex-math></inline-formula> reduced the resulting root mean square error (RMSE) between simulated and physiological reference angle by 96%. In a pilot experiment with two unimpaired and one amputee subject, gait with the <inline-formula> <tex-math notation="LaTeX">$NeurImp $ </tex-math></inline-formula> deviated more from a physiological reference than with a conventional visco-elastic impedance controller. Subjects, however, preferred the <inline-formula> <tex-math notation="LaTeX">$NeurImp $ </tex-math></inline-formula>. When adding the <inline-formula> <tex-math notation="LaTeX">$HuMRAC $ </tex-math></inline-formula> to either of the two impedance controllers, the RMSE between the actual and the physiological reference angle was reduced by up to 54%. Subjects confirmed this finding and reported an easier stance-to-swing transition. Simulation and pilot experiment suggest that a reflex-based impedance controller combined with an adaptive controller may improve user-cooperative behavior of active knee exoprostheses.
Analysis of Three-dimensional Systems for Developing and Mature Kidneys Clarifies the Role of OAT1 and OAT3 in Antiviral Handling*

The organic anion transporters OAT1 (SLC22A6, originally identified by us as NKT) and OAT3 (SLC22A8) are critical for handling many toxins, metabolites, and drugs, including antivirals (Truong, D. M., Kaler, G., Khandelwal, A., Swaan, P. W., and Nigam, S. K. (2008) J. Biol. Chem. 283, 8654–8663). Although microinjected Xenopus oocytes and/or transfected cells indicate overlapping specificities, the individual contributions of these transporters in the three-dimensional context of the tissues in which they normally function remain unclear. Here, handling of HIV antivirals (stavudine, tenofovir, lamivudine, acyclovir, and zidovudine) was analyzed with three-dimensional ex vivo functional assays using knock-out tissue. To investigate the contribution of OAT1 and OAT3 in various nephron segments, the OAT-selective fluorescent tracer substrates 5-carboxyfluorescein and 6-carboxyfluorescein were used. Although OAT1 function (uptake in oat3−/− tissue) was confined to portions of the cortex, consistent with a proximal tubular localization, OAT3 function (uptake in oat1−/− tissue) was apparent throughout the cortex, indicating localization in the distal as well as proximal nephron. This functional localization indicates a complex three-dimensional context, which needs to be considered for metabolites, toxins, and drugs (e.g. antivirals) handled by both transporters. These results also raise the possibility of functional differences in the relative importance of OAT1 and OAT3 in antiviral handling in developing and mature tissue. Because the HIV antivirals are used in pregnant women, the results may also help in understanding how these drugs are handled by developing organs.
Extensive genome heterogeneity leads to preferential allele expression and copy number‐dependent expression in cultivated potato

Relative to homozygous diploids, the presence of multiple homologs or homeologs in polyploids affords greater tolerance to mutations that can impact genome evolution. In this study, we describe sequence and structural variation in the genomes of six accessions of cultivated potato (Solanum tuberosum L.), a vegetatively propagated autotetraploid and their impact on the transcriptome. Sequence diversity was high with a mean single nucleotide polymorphisms (SNP) rate of approximately 1 per 50 bases suggestive of high levels of allelic diversity. Additive gene expression was observed in leaves (3605 genes) and tubers (6156 genes) that contrasted the preferential allele expression of between 2180 and 3502 and 3367 and 5270 genes in the leaf and tuber transcriptome, respectively. Preferential allele expression was significantly associated with evolutionarily conserved genes suggesting selection of specific alleles of genes responsible for biological processes common to angiosperms during the breeding selection process. Copy number variation was rampant with between 16 098 and 18 921 genes in each cultivar exhibiting duplication or deletion. Copy number variable genes tended to be evolutionarily recent, lowly expressed, and enriched in genes that show increased expression in response to biotic and abiotic stress treatments suggestive of a role in adaptation. Gene copy number impacts on gene expression were detected with 528 genes having correlations between copy number and gene expression. Collectively, these data suggest that in addition to allelic variation of coding sequence, the heterogenous nature of the tetraploid potato genome contributes to a highly dynamic transcriptome impacted by allele preferential and copy number-dependent expression effects.
Determinants of fetal growth and body proportionality.

Previous studies of fetal growth and body proportionality have been based on error-prone gestational age estimates and on inappropriate comparisons of infants with dissimilar birth weights. Based on a cohort of 8719 infants with validated (by early ultrasonography) gestational ages and indexes of body proportionality standardized for birth weight, potential maternal and fetal determinants of fetal growth and proportionality were assessed. Maternal history of previous low birth weight infants, pregnancy-related hypertension (particularly if severe), diabetes, prepregnancy weight, net gestational weight gain, cigarette smoking, height, parity, and fetal sex were all significantly associated with fetal growth in the expected directions. Consistent with previous reports, maternal age, marital status, and onset or total amount of prenatal care had no significant independent effects. Fetal growth ratio (relative weight for gestational age), pregnancy-related hypertension, fetal sex, and maternal height were the only significant determinants of proportionality. Infants who were growth-retarded, those with taller mothers, those whose mothers had severe pregnancy-related hypertension, and males tended to be longer and thinner and had larger heads for their weight, although these variables explained only a small fraction of the variance in the proportionality measures. Among infants with intrauterine growth retardation, gestational age was not independently associated with proportionality (in particular, late term and post-term infants did not tend to be more disproportional), a finding that does not support the hypothesis that earlier onset of growth retardation leads to more proportional growth retardation. The results raise serious questions about previous studies of proportionality, particularly those suggesting a nutritional etiology for proportional intrauterine growth retardation. (ABSTRACT TRUNCATED AT 250 WORDS)
Hiding and revealing information using the mechanochromic system of a 2,5-dicarbazole-substituted terephthalate derivative

A 2,5-dicarbazole-substituted terephthalate derivative consisting of two carboxylic acid groups was synthesized in order to investigate the influence of acidic and basic vapours on its mechanofluorochromic (MFC) behavior. UV-vis absorption and emission spectra and quantum chemical calculations indicated a molecular push–pull electronic structure and non-planar geometry, which resulted in molecular marked MFC behavior. Under mechanical force, the white solid became a yellow one and its cyan fluorescence was converted to yellow-green fluorescence. The color and fluorescence of the solid could be recovered by solvent or thermal annealing. Thus, a reversible MFC process was observed. When exposed to NH3 vapor, both the pristine and ground solids emitted blue fluorescence, and the colors of the fluorescence were restored to the original cyan and yellow-green colors by fuming with HCOOH vapor. Therefore, as a smart and multiple stimuli-responsive material, this molecule could be applied in data protection. Information written by force can be hidden using NH3 vapor, revealed using HCOOH, and then erased again using thermal annealing.
Compressive sensing for synthetic aperture imaging using a sparse basis transform

We consider the problem of active high-resolution imaging using synthetic aperture techniques, such as synthetic aperture radar (SAR) or synthetic aperture sonar (SAS). In order to reduce storage, processing power and energy requirements a compressive sensing framework is adopted that allows to reduce the number of measurements while maintaining range resolution and image quality. We consider the approach from Alonso et al. where compressive sensing is considered as an alternative to matched filtering for range focusing while keeping along-track focusing for imaging unmodified. This approach is extended by a sparse basis transform for range profiles that allows for deviations from the implicit point target model assumption. A synthetic aperture ultrasound imaging system is build that implements the presented techniques in a laboratory setup. Range profiles and images of this setup are considered to evaluate the system performance in terms of resolution and image quality.
Robust hybrid impedance control of robot manipulators via a tracking control method

In this work, we address robust hybrid impedance control via a tracking control method. The objective of hybrid impedance control is converted into tracking a targeted trajectory. A globally asymptotically stable robust control law is proposed and applied to the tracking control of the targeted trajectory. The position and velocity tracking errors converge to zero under the proposed control law, and the force error is bounded. Furthermore, it is shown that the force error can be reduced by applying inner-loop acceleration feedback. The same controller can be used for control of both free and constraint motions of robot manipulator. As an illustration, an example is presented, and the simulation results are in accordance with the theoretical analysis. <<ETX>>