Miracle-dz/UniFAR-FTUs huggingface dataset:
The Prader-Willi Phenotype of Fragile X Syndrome

The Prader-Willi phenotype (PWP) of fragile X syndrome (FXS) is associated with obesity and hyperphagia similar to Prader-Willi syndrome (PWS), but without cytogenetic or methylation abnormalities at 15q11–13. Thirteen cases of PWP and FXS are reported here that were identified by obesity and hyperphagia. Delayed puberty was seen in 5 of 9 cases who had entered puberty, a small penis or testicles in seven of 13 cases, and infant hypotonia and/or a poor suck in seven of 13 cases. Autism spectrum disorder occurred in 10 of 13 cases, and autism was diagnosed in seven of 13 cases. We investigated cytoplasmic interacting FMR1 protein (CYFIP) expression, which is a protein that interacts with FMR1 protein (FMRP) because the gene for CYFIP is located at 15q11–13. CYFIP mRNA levels were significantly reduced in our patients with the PWP and FXS compared to individuals without FXS (p < .001) and also individuals with FXS without PWP (p = .03).
Joint CTC/attention decoding for end-to-end speech recognition

End-to-end automatic speech recognition (ASR) has become a popular alternative to conventional DNN/HMM systems because it avoids the need for linguistic resources such as pronunciation dictionary, tokenization, and context-dependency trees, leading to a greatly simplified model-building process. There are two major types of end-to-end architectures for ASR: attention-based methods use an attention mechanism to perform alignment between acoustic frames and recognized symbols, and connectionist temporal classification (CTC), uses Markov assumptions to efficiently solve sequential problems by dynamic programming. This paper proposes joint decoding algorithm for end-to-end ASR with a hybrid CTC/attention architecture, which effectively utilizes both advantages in decoding. We have applied the proposed method to two ASR benchmarks (spontaneous Japanese and Mandarin Chinese), and showing the comparable performance to conventional state-of-the-art DNN/HMM ASR systems without linguistic resources.
Noncoherent sequence detection of continuous phase modulations

In this paper, noncoherent sequence detection (NSD) proposed Colavolpe and Raheli (see Proc. IEEE Int. Conf. Commun. (ICC '97), Montreal, p.21-5, 1997, IEEE Commun. Lett. , 1998, and Proc. IEEE Intern. Conf. Commun. (ICC '98), Atlanta, GA, USA, p.438-43, 1998) is extended to continuous phase modulation (CPM). CPM is treated here jointly with linear modulations with intersymbol interference (ISI) since it is mathematically equivalent to a sum of ISI-affected linearly modulated components, according to Laurent (1986) representation. We first consider combined noncoherent sequence detection and decoding of coded linear modulations in the presence of ISI. The results we then extended to the case of M-ary CPM signals. The proposed sub-optimal detection schemes have a performance which approaches that of coherent detection with an affordable level of complexity. The robustness of noncoherent sequence detection schemes to phase noise is also demonstrated.
Face Detection - Efficient and Rank Deficient

This paper proposes a method for computing fast approximations to support vector decision functions in the field of object detection. In the present approach we are building on an existing algorithm where the set of support vectors is replaced by a smaller, so-called reduced set of synthesized input space points. In contrast to the existing method that finds the reduced set via unconstrained optimization, we impose a structural constraint on the synthetic points such that the resulting approximations can be evaluated via separable filters. For applications that require scanning large images, this decreases the computational complexity by a significant amount. Experimental results show that in face detection, rank deficient approximations are 4 to 6 times faster than unconstrained reduced set systems.
Analyse et modélisation de la stochasticité de l'expression génique dans des cellules eucaryotes. (Analysis and modeling of gene expression stochasticity in eukaryotic cells)

HAL is a multi-disciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not. The documents may come from teaching and research institutions in France or abroad, or from public or private research centers. L’archive ouverte pluridisciplinaire HAL, est destinée au dépôt et à la diffusion de documents scientifiques de niveau recherche, publiés ou non, émanant des établissements d’enseignement et de recherche français ou étrangers, des laboratoires publics ou privés. Analyse et modélisation de la stochasticité de l’expression génique dans des cellules eucaryotes Gaël Kaneko
SERVQUAL and SERVPERF: A Review of Measures in Services Marketing Research

In India, the service sector has assumed greater economic importance over the past decade and enjoys the largest share in GDP. Banking and financial services, being an important part of service sector, are facing critical challenges to compete with the international players while satisfying customers by offering quality services. As delivering quality service to customers is a must for success, it needs to be continuously evaluated. Extant literature on the subject supports the contention that SERVQUAL and SERVPERF are the two most prominent scales forming the genesis for service quality assessment in different service sectors. Present paper attempts to present a review of the above mentioned two scales in an elucidative, concise and thoroughly documented manner. It also tries to posit the best approach of evaluating service quality in a more efficient and valid method for marketing managers/researchers in Indian context. Literature shows that in Indian context, SERVPERF has outperformed SERVQUAL as it not only cut down the number of variables but also reduced the work load of customer survey and helped in generating unbiased responses. Thus, from a pragmatic viewpoint, it is expected that the paper will serve as a useful of source information for researchers interested in selecting the most efficient service quality scale for assessing service quality in a developing economy like India as also solving complex issues related to service quality and other behavioural outcomes such as customer satisfaction, loyalty, recommendation, trust, word-of-mouth etc. in their future researches.
Early Gut Colonization With Lactobacilli and Staphylococcus in Infants: The Hygiene Hypothesis Extended

Objectives: The aim of the present study was to assess the mode of delivery and type-of-feeding impact on gut microbiota. We demonstrated higher fecal bifidobacteria in infants who were breast-fed (BF) or fed formula with prebiotics polydextrose (PDX) and galactooligosaccharides (GOS) versus formula without prebiotics. Here, we tested feces of that cohort for lactobacilli and Staphylococcus aureus, 2 types of bacteria present in breast milk. Methods: In a double-blind, randomized study, 21- to 30-day-old term infants vaginally delivered and exclusively formula-fed received a cow's milk–based formula (control, n = 80) or the same formula with 4 g/L (1:1 ratio) of PDX/GOS (PDX/GOS, n = 77). A reference BF group (n = 71) was included. Stool samples were obtained at baseline and after 30 and 60 days of feeding to assess fecal bacteria by quantitative real-time polymerase chain reaction. Results: Pairwise comparisons between baseline-adjusted means log10 colony-forming unit per gram feces of total lactobacilli counts (8.37 in control, 8.46 in PDX/GOS, and 8.42 in BF) showed a significant difference only between PDX/GOS and control at 30 and 60 days combined (P = 0.035), utilizing generalized estimating equations method. Baseline-adjusted odds ratio (OR) of colonization with S aureus was lower in control (OR 0.47, 95% confidence interval 0.22–1.00, P = 0.049) and PDX/GOS (OR 0.44, 95% confidence interval 0.21–0.94, P = 0.03) groups versus the BF group. Conclusions: Bacteria found in breast milk, such as lactobacilli and S aureus can also be found in infant feces. S aureus, traditionally considered harmful, may aid in educating the coevolving immune system. Modifying formula by adding prebiotics may bring gut microbiota closer to that of BF infants in terms of beneficial microbes.
Experimental sleep fragmentation impairs spatial reference but not working memory in Fischer/Brown Norway rats

Sleep fragmentation is a common symptom in sleep disorders and other medical complaints resulting in excessive daytime sleepiness. The present study seeks to explore the effects of sleep fragmentation on learning and memory in a spatial reference memory task and a spatial working memory (WM) task. Fischer/Brown Norway rats lived in custom treadmills designed to induce locomotor activity every 2 min throughout a 24‐h period. Separate rats were either on a treadmill schedule that allowed for consolidated sleep or experienced no locomotor activation. Rats were tested in one of two water maze‐based tests of learning and memory immediately following 24 h of sleep interruption. Rats tested in a spatial reference memory task (eight massed acquisition trials) with a 24‐h follow‐up probe trial to assess memory retention showed no differences in acquisition performance but were impaired on the 24 h retention of the platform location. In contrast, the performance of rats tested in a spatial WM task (delayed matching to position task) was not impaired. Therefore, sleep fragmentation prior to testing impairs the ability to retain spatial reference memories but does not impair spatial reference memory acquisition or spatial WM in Fischer‐Norway rats.
Cryptographic Protocol Engineering-Building Security from the Ground Up

There are several types of attacks, including multi-protocol attacks, that occur when incorrect assumptions are made about the operating environment of a cryptographic protocol. This paper introduces the concept of a protocol service layer providing separation between cryptographic services and their uses. This layer implements the necessary security functions needed to implement the secure environment assumed by many protocol designers.
Memory characterization of a parallel data mining workload

Studies a representative of an important class of emerging applications: a parallel data mining workload. The application, extracted from the IBM Intelligent Miner, identifies groups of records that are mathematically similar, based on a neural network model called a self-organizing map. We examine and compare, in detail, two implementations of the application: (1) temporal locality or working set size; (2) spatial locality and memory block utilization; (3) communication characteristics and scalability; and (4) translation lookaside buffer (TLB) performance. First, we find that the working set hierarchy of the application is governed by two parameters, namely the size of an input record and the size of prototype array; it is independent of the number of input records. Second, the application shows good spatial locality, with the implementation optimized for sparse data sets having slightly worse spatial locality. Third, due to the batch update scheme, the application bears very low communication. Finally, a two-way set-associative TLB may result in severely skewed TLB performance in a multiprocessor environment, caused by the large discrepancy in the number of conflict misses. Increasing the set associativity is more effective in mitigating the problem than increasing the TLB size.
EGF 61 A > G polymorphism as predictive marker of clinical outcome to first-line capecitabine and oxaliplatin in metastatic colorectal cancer

Background: The purpose of the present study was to investigate polymorphisms related to the metabolism of fluoropyrimidine and oxaliplatin, thymidylate synthase (TS) and excision repair cross-complementing gene 1 (ERCC1) 118, in metastatic colorectal cancer patients treated with capecitabine and oxaliplatin (XELOX). We also investigated the importance of the EGF61A>G polymorphism, which holds a functional influence on the tyrosine kinase receptor regulation. Materials and methods: We included 68 patients treated with first-line XELOX. Polymorphism analyses were carried out on pretreatment blood samples. Response was evaluated according to the RECIST. Survival analysis was described by the Kaplan–Meier method and log-rank testing. Results: The overall response rate was 38% and the median overall survival 19.4 months. A favorable outcome was seen in patients with the EGF61A/G genotype compared with the combined group of A/A and G/G, with response rates of 57% and 18%, respectively (P = 0.001). There was a significantly different progression-free survival (P = 0.018) in favor of the A/G group. The TS and ERCC1 genotypes failed to provide any significant impact on the outcome. Conclusion: Polymorphism analysis of a simple blood sample is a feasible approach to biomarker analysis and the EGF61A>G polymorphism may influence the effect of first-line XELOX. Consequently, this marker deserves further investigation.
Dietary Salt Intake Is a Determinant of Cardiac Changes After Treatment of Primary Aldosteronism: A Prospective Study

Primary aldosteronism is associated with increased left ventricular (LV) mass independently of blood pressure. Previous studies suggest that elevated aldosterone causes cardiac damage only in the presence of an inappropriate salt status. We examined the relevance of dietary salt intake on cardiac changes in patients with primary aldosteronism before and after treatment. Sixty-five patients with tumoral or idiopathic primary aldosteronism were recruited at a University medical center and followed after either surgical (n=30) or medical (n=35) treatment. At baseline and 1 year after treatment, cardiac morphology and functional variables were measured by echocardiography together with duplicate 24-hour urinary sodium collections. At baseline, LV mass index was associated with urinary sodium excretion and plasma aldosterone levels. During follow-up, blood pressure (from 167/102–135/83 mm Hg; P<0.001) and LV mass index (from 50.5±13.0–44.4±8.9 g/m2.7; P<0.001) decreased significantly with nonsignificant changes in LV geometry and functional properties. At the end of follow-up, percentage decrease in LV mass index was significantly greater in patients who had >10% reduction in urinary sodium excretion (15.0±12.5%) than in the remaining patients (5.5±9.3%; P<0.001). Changes in LV mass index induced by both surgical and medical treatment were directly and independently correlated with changes in blood pressure (&bgr;=0.419; P=0.009) and urinary sodium excretion (&bgr;=0.334; P=0.012) observed at follow-up. These findings strongly support the hypothesis that dietary salt intake has a crucial role in aldosterone-related LV changes and could contribute to cardiac damage in patients with primary aldosteronism.
Adaptive color classification for structured light systems

We present a system to capture high accuracy 3D models of faces by taking just one photo without the need of specialized hardware, just a consumer grade digital camera and beamer. The proposed 3D face scanner utilizes structured light techniques: A colored pattern is projected into the face of interest while a photo is taken. Then, the 3D geometry is calculated based on the distortions of the pattern detected in the face. This is performed by triangulating the pattern found in the captured image with the projected one.
Small renal masses: current concepts regarding the natural history and reflections on the American Urological Association guidelines

Purpose of review Although surgical resection is the current standard for treatment of small (<4 cm) renal cortical neoplasms, active surveillance remains an option in selected patients depending on tumor characteristics and surgical risk. We review the natural history of small renal masses according to the current literature, and highlight issues regarding the recent guidelines for the management of T1 renal masses put forth by the American Urological Association. Recent findings The natural history of small renal masses is still largely unknown; however, initial size or volume of the mass seems to predict the risk of malignancy in retrospective studies. A new study found that growth rate is inversely related to initial tumor volume, with smaller masses growing faster in the beginning and decreasing in rate of growth as they enlarge. Biomarkers such as carbonic anhydrase IX, vascular endothelial growth factor, and CD147 have demonstrated some value in predicting tumor characteristics and prognosis in renal cell carcinoma. Finally, we suggest modifications to the new American Urological Association guidelines based on the authors' experience in order to optimize the management of renal cortical neoplasms. Summary The natural history of small renal masses is not completely understood. Growth rate and tumor size are factors shown to be predictive of tumor biology. Currently, there are no specific tumor markers to determine initial risk or progression to metastatic disease; however, investigation into new molecules is being undertaken. The guidelines presented by the American Urological Association give a formal framework for the management of T1 renal cortical neoplasms; however, we site specific modifications and recommend that they be considered when evaluating patients for treatment.
Mechanically verifying real-valued algorithms in acl2

ACL2 is a theorem prover over a total, first-order, mostly quantifier-free logic, supporting defined and constrained functions, equality and congruence rewriting, induction, and other reasoning techniques. With its powerful induction engine and direct support for the rational and complex-rational numbers, ACL2 can be used to verify recursive rational algorithms. However, ACL2 can not be used to reason about real-valued algorithms that involve the irrational numbers. For example, there are elegant proofs of the correctness of the Fast Fourier Transform (FFT) which could be formulated in ACL2, but since ACL2's sparse number system permits the proof that the square root of two, and hence the eighth principal root of one, does not exist, it is impossible to reason directly about the FFT in ACL2. This research extends ACL2 to allow reasoning about the real and complex irrational numbers. The modifications are based on non-standard analysis, since infinitesimals are more natural than limits in a quantifier-free context. It is also shown how the trigonometric functions can be defined in the modified ACL2. These definitions are then used to prove that the FFT correctly implements the Fourier Transform. * *Dissertation is available in CD-ROM format and requires Windows.
Interested in learning more about security ?

Wireless local area network (WLAN) has been widely used in many sectors. The popularity gained is due to many reasons, such as ease of installation, installation flexibility, mobility, reduced cost-of-ownership, and scalability. However, regardless of the benefits, WLAN have some security threats. This paper begins by introducing the concept of WLAN. The introductory section gives brief information on the WLAN components and its architecture. In order to examine the WLAN security threats, this paper will look at Denial.
Evaluation of plasma levels of adrenomedullin and ghrelin, and their correlation with electrophysiological changes in diabetic neuropathy.

OBJECTIVE To evaluate plasma levels of adrenomedullin (AM) and ghrelin and their correlation with the electrophysiological changes in diabetic neuropathy. METHODS The current study was conducted from March 2008 to November 2010 at the Clinical Physiology Department, King Abdulaziz University Hospital, King Saud University, Riyadh, Kingdom of Saudi Arabia on 90 females divided into 30 controls (group I), 30 controlled diabetic patients (group II), and 30 with peripheral neuropathy (group III). All electrophysiological and biochemical measurements of AM and ghrelin were investigated. RESULTS There was a significant decrease of motor and sensory nerve conduction velocity and prolongation of F wave response of median, ulnar, peroneal, and sural nerves in diabetic patients with neuropathy. Ankle/brachial index (A/BI) showed insignificant change in all groups compared with the control group. There was significant decrease of plasma levels of AM and ghrelin in group III compared with group I. The results revealed that AM and ghrelin were positively correlated with peripheral nerves motor and sensory conduction velocities. CONCLUSION The altered concentration of AM and ghrelin in diabetic neuropathy could indicate a pathophysiological role. The decline of plasma levels of AM and ghrelin in diabetic neuropathy may be a causative factor, they have neuroprotective and vasculoprotective effects, so their lack could induce neuronal injury and advancement of neuropathy, but the precise role of AM and ghrelin in the pathogenesis of diabetic neuropathy is still to be elucidated.
Filtering Speaker-Specific Words from Electronic Discussions

The work presented in this paper is the first step in a project which aims to cluster and summarise electronic discussions in the context of help-desk applications. The eventual objective of this project is to use these summaries to assist help-desk users and operators. In this paper, we identify features of electronic discussions that influence the clustering process, and offer a filtering mechanism that removes undesirable influences. We tested the clustering and filtering processes on electronic newsgroup discussions, and evaluated their performance by means of two experiments: coarse-level clustering and simple information retrieval. Our evaluation shows that our filtering mechanism has a significant positive effect on both tasks.
Antimicrobial activity of flame-synthesized nano-TiO2 coatings

TiO2 in the form of nanocrystals possesses photocatalyst properties leading to excellent capability of degrading a number of environmental contaminants such as organics, bacteria, and viruses. However, the antimicrobial activity of nano-TiO2 coatings against different microorganisms is not yet well established. Candida albicans, Aspergillus niger, Staphylococcus aureus and Streptococcus mutans are common nosocomial and environmental pathogens responsible for biofilm-associated infections especially in indoor environments. In this study, we produced thin coatings of TiO2 nanoparticles on aluminum substrates and assessed whether they may prevent fungi and bacteria biofilm formation and whether this may be a synergistic effect of TiO2 nanoparticles with UV irradiation, which is more representative of the natural conditions for passive devices. Coatings of flame-synthesized nanoparticles were produced by direct thermophoretic deposition on aluminum substrates through a rotating disk inserted in the flame. Particle and coating characterization was performed by means of differential mobility analysis, Raman and X-ray diffraction spectroscopy. Microbial biofilm formation on substrates with different TiO2 thicknesses were evaluated by the colorimetric crystal violet method and quantified by spectrophotometry in four different fungi and bacteria strains; the results were corroborated by scanning electron microscopy analysis. Substrates with minimal TiO2 nanoparticle layers demonstrated a strong anti-biofilm effect against both fungi and bacteria, due to the well-known cellular component photo-oxidation and to the enhanced nanomaterial surface area. Interestingly, UV irradiation of the substrates at a low intensity for a short time demonstrated a significant enhancement of the titania antimicrobial activity. TiO2 nanoparticle coatings may be proposed as self-cleaning and self-disinfecting materials able to reduce microbial infections, especially in indoor environments where hygiene is needed.