Miracle-dz/UniFAR-FTUs huggingface dataset:
An Update of Congenital Adrenal Hyperplasia

Abstract: Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations that encode for enzymes involved in one of the various steps of adrenal steroid synthesis. These defects result in the absence or the decreased synthesis of cortisol from its cholesterol precursor. The anterior pituitary secretes excess adrenocorticotrophic hormone (ACTH) via feedback regulation by cortisol, which results in overstimulation of the adrenals and causes hyperplasia. Symptoms due to CAH can vary from mild to severe depending on the degree of ensymatic defect. In the classical form of CAH, there is a severe enzymatic defect owing to mutations in the CYP21 gene. Classically affected female fetuses undergo virilization of the genitalia prenatally and present with genital ambiguity at birth; however, prenatal treatment of CAH with dexamethasone to prevent ambiguity has been successfully utilized for over a decade. In the less severe, late‐onset form of CAH, prenatal virilization does not occur. The milder enzyme deficiency was termed nonclassical 21‐hydroxylase deficiency (NC21OHD) in 1979 and was later found to be the most common autosomal recessive disorder in humans. Disease frequency of NC21OHD varies between ethnic groups with the highest ethnic‐specific disease frequency in Ashkenazi Jews at 1/27. NC21OHD is diagnosed by serum elevations of 17‐OHP that plot on a nomogram between the range for unaffected individuals and levels observed for classical CAH and is typically confirmed with molecular genetic analysis. Similar to classical CAH, nonclassical 21‐hydroxylase deficiency may cause premature development of pubic hair, advanced bone age, acelerated linear growth velocity and diminished final height in both males and females. Severe cystic acne has also been attributed to nonclassical CAH. Women may present with symptoms of androgen excess, including hirsutism, temporal baldness, and infertility. Menarche in females may be normal or delayed and secondary amenorrhea is a frequent occurence. Polycystic ovary syndrome may also be seen in these patients. In males, early beard growth, acne, and growth spurt may prompt the diagnosis of NC21OHD. Although many males appear to be asymptomatic, they may present with oligozoospermia or diminished fertility. Individuals presenting to dermatology and infertility clinics with symptoms of hyperandrogenemia are rarely screened for NC21OHD. However, with hormonal and molecular genetic screening, previously undiagnosed patients may be identified and can therefore receive glucocorticoid treatment, which has been shown to reverse symptoms within 3 months.
Alphaherpesvirus Proteins Related to Herpes Simplex Virus Type 1 ICP0 Induce the Formation of Colocalizing, Conjugated Ubiquitin

ABSTRACT Herpes simplex virus type 1 immediate early protein ICP0 influences virus infection by inducing the degradation of specific cellular proteins via a mechanism requiring its RING finger and the ubiquitin-proteasome pathway. Many RING finger proteins, by virtue of their RING finger domain, interact with E2 ubiquitin-conjugating enzymes and act as a component of an E3 ubiquitin ligase. We have recently shown that ICP0 induces the accumulation of colocalizing, conjugated ubiquitin, suggesting that ICP0 can act as or contribute to an E3 ubiquitin ligase. In this report we demonstrate that the ICP0-related RING finger proteins encoded by other alphaherpesviruses also induce colocalizing, conjugated ubiquitin, thereby suggesting that they act by similar biochemical mechanisms.
Association of gene expression involving innate immunity and genetic variation in interleukin 28B with antiviral response

Innate immunity plays an important role in host antiviral response to hepatitis C viral (HCV) infection. Recently, single nucleotide polymorphisms (SNPs) of IL28B and host response to peginterferon α (PEG‐IFNα) and ribavirin (RBV) were shown to be strongly associated. We aimed to determine the gene expression involving innate immunity in IL28B genotypes and elucidate its relation to response to antiviral treatment. We genotyped IL28B SNPs (rs8099917 and rs12979860) in 88 chronic hepatitis C patients treated with PEG‐IFNα‐2b/RBV and quantified expressions of viral sensors (RIG‐I, MDA5, and LGP2), adaptor molecule (IPS‐1), related ubiquitin E3‐ligase (RNF125), modulators (ISG15 and USP18), and IL28 (IFNλ). Both IL28B SNPs were 100% identical; 54 patients possessed rs8099917 TT/rs12979860 CC (IL28B major patients) and 34 possessed rs8099917 TG/rs12979860 CT (IL28B minor patients). Hepatic expressions of viral sensors and modulators in IL28B minor patients were significantly up‐regulated compared with that in IL28B major patients (≈3.3‐fold, P < 0.001). However, expression of IPS‐1 was significantly lower in IL28B minor patients (1.2‐fold, P = 0.028). Expressions of viral sensors and modulators were significantly higher in nonvirological responders (NVR) than that in others despite stratification by IL28B genotype (≈2.6‐fold, P < 0.001). Multivariate and ROC analyses indicated that higher RIG‐I and ISG15 expressions and RIG‐I/IPS‐1 expression ratio were independent factors for NVR. IPS‐1 down‐regulation in IL28B minor patients was confirmed by western blotting, and the extent of IPS‐1 protein cleavage was associated with the variable treatment response. Conclusion: Gene expression involving innate immunity is strongly associated with IL28B genotype and response to PEG‐IFNα/RBV. Both IL28B minor allele and higher RIG‐I and ISG15 expressions and RIG‐I/IPS‐1 ratio are independent factors for NVR. (Hepatology 2012)
Some Biochemical Changes in Hamsters Fed Excess Phenylalanine Diets.∗

Previous studies in this laboratory have revealed that feeding excess quantities of phenylalanine to rats influences the activity of various liver enzymes(1,2,3), the quantity of brain serotonin(2,4), plasma amino acid levels, and affects these parameters in the developing fetus(5,6). Behavioral responses of rats fed such diets have also been evaluated (7,8). Other studies by Waisman and Har-low(9,10) have provided convincing data that the Rhesus monkey is a better animal than the rat for both biochemical and behavioral experiments designed to study the effect of hyperphenylalaninemia. In attempts to develop still other animal models of hyperaminoacidemias, hepatic phenylalanine hydroxylase activities of animals of several species were determined and it was surprising to find that the Syrian hamster (Cricetus auratus) had but 18% of the hydroxylase activity of the rat(11). The purpose of this study was to determine the effect of different phenylalanine-supplemented diets on growth, plasma phenylalanine and tyrosine levels, phenylalanine hydroxylase, phenylala-nine-pyruvate transaminase, and tyrosine-a-ketoglutarate transaminase activity in the liver of the growing hamster. Materials and methods. Weanling hamsters, 25 days of age, were obtained from a local vendor (Con Olson Co., Madison, Wis.) and placed in individual cages, in a room with 3-hour alternate dark-light cycles as previously described(12). The animals were randomized in groups of six, 3 ♂and 3 ♀ to a group, and fed different diets. The first 5 groups received commercial diet,‡ supplemented with varying amounts of L-phenylala-nine, or L-phenylalanine + DL-phenylala-nine; a group which received only commercial diet served as controls. Eight other groups received synthetic diets consisting of varying quantities of casein and dextrose plus corn oil, minerals,§ and vitamins. This basic diet was supplemented with 5% L-phenylalanine or a mixture of L-phenylalanine and DL-phenylalanine, as listed in Table I.
Dynamic Business Processes and Virtual Communities in Wireless eHealth Environments

Computer Supported Collaborative Work (CSCW) related applications tend to be a trend for most successful businesses, organizations and domains nowadays, as is the Healthcare sector. Healthcare specialists often work in remote areas facing many problems and challenges driven mainly from the limitations and constraints of the mobile and wireless technologies in relation to the tasks at hand. Due to the sensitive area of healthcare provision, this chapter discusses that additional features need to be incorporated in current CSCW systems, like the dynamic creation of medical virtual teams, dynamic workflows and the automatic triggered events upon time expiration, in order to be more effective and efficient. In this respect and having in mind the new Web 2.0 characteristics, a set of new features applied in our proposed CSCW system, DITIS, is analyzed in an attempt to encapsulate all the needs of eHealth applications. Furthermore, an extensive evaluation of the system is presented, supporting the need for such enhancements since a significant increase in communication, coordination and collaboration has been shown among the subjects. DOI: 10.4018/978-1-61520-777-0.ch021
File based mobile satellite broadcast systems: error rate computation and QoS based design

Mobile satellite broadcast systems have the potential of delivering entertainment, information and other data services with outstanding coverage and reliability. However, the long signal interruptions due to obstacles in the terminal environment that characterizes the land mobile satellite channel make the design of efficient air interfaces challenging. In this paper, a file based mobile satellite broadcast system is studied where, to overcome the signal blockages, packet time diversity is applied. Based on some simple assumptions, an analytical expression for the file error rate of the system is derived. Using this result, a design scheme is proposed that, for a given channel and file, minimizes the total number of transmitted symbols required to satisfy quality of service (QoS) constraints in terms of acceptable delay and file receive probability. The results can also be used to estimate the reduction in bandwidth requirements that can be achieved if users in demanding environments can be served using terrestrial repeaters or other means.
Gaia broad band photometry

Aims. The scientific community needs to be prepared to analyse the data from Gaia, one of the most ambitious ESA space missions, which is to be launched in 2012. The purpose of this paper is to provide data and tools to predict how Gaia photometry is expected to be. To do so, we provide relationships among colours involving Gaia magnitudes (white light G, blue GBP, red GRP and GRVS bands) and colours from other commonly used photometric systems (Johnson-Cousins, Sloan Digital Sky Survey, Hipparcos and Tycho). Methods. The most up-to-date information from industrial partners has been used to define the nominal passbands, and based on the BaSeL3.1 stellar spectral energy distribution library, relationships were obtained for stars with different reddening values, ranges of temperatures, surface gravities and metallicities. Results. The transformations involving Gaia and Johnson-Cousins V − IC and Sloan DSS g − z colours have the lowest residuals. A polynomial expression for the relation between the effective temperature and the colour GBP−GRP was derived for stars with Teff ≥ 4500 K. For stars with Teff < 4500 K, dispersions exist in gravity and metallicity for each absorption value in g − r and r − i. Transformations involving two Johnson or two Sloan DSS colours yield lower residuals than using only one colour. We also computed several ratios of total-to-selective absorption including absorption AG in the G band and colour excess E(GBP–GRP) for our sample stars. A relationship involving AG/AV and the intrinsic (V − IC) colour is provided. The derived Gaia passbands have been used to compute tracks and isochrones using the Padova and BASTI models. Finally, the performances of the predicted Gaia magnitudes have been estimated according to the magnitude and the celestial coordinates of the star. Conclusions. The provided dependencies among colours can be used for planning scientific exploitation of Gaia data, performing simulations of the Gaia-like sky, planning ground-based complementary observations and for building catalogues with auxiliary data for the Gaia data processing and validation.
Membrane fusion by surrogate receptor-bound influenza haemagglutinin.

In influenza infections, haemagglutinin (HA) mediates the fusion of virus and cellular membranes at endosomal pH, between pH 5 and 6. In vitro, when reconstituted into virosomes, efficient fusion requires target membranes to contain sialic acid receptors or receptor analogues. In the experiments reported, lipid-associated anti-HA monoclonal Fab' fragments were used as surrogate receptors to investigate the fusion capacity of receptor-bound HA compared with unbound HA. The conclusions are drawn, in contrast to those from previous studies, that bound HA can mediate fusion and that fusion mainly involves bound HA when the liposome targets are densely packed with surrogate receptors.
Industry Best Practices Contributing to Small Business Success

Industry Best Practices Contributing to Small Business Success by Timothy J. Giardino MBA, Baker College, 2012 BS, Embry-Riddle Aeronautical University, 2009 Doctoral Study Submitted in Partial Fulfillment of the Requirements for the Degree of Doctor of Business Administration Walden University August 2016
Analysis of factors influencing early mortality in colorectal cancer surgery.

1Ghenadie Pascarenco, 1Marius F. Coros, 2Ofelia D. Pascarenco, 1Sorin Sorlea, 3Adrian M. Maghiar 1 IIIrd Surgical Departament, County Clinical Hospital, University of Medicine and Pharmacy, Târgu Mureş, Romania; 2 Department of Gastroenterology, County Clinical Hospital, University of Medicine and Pharmacy, Târgu Mureş, Romania; 3 University of Medicine and Pharmacy, Surgical Departament, Pelican Clinical Hospital, Oradea, Romania.
Narrowest‐over‐threshold detection of multiple change points and change‐point‐like features

We propose a new, generic and flexible methodology for non‐parametric function estimation, in which we first estimate the number and locations of any features that may be present in the function and then estimate the function parametrically between each pair of neighbouring detected features. Examples of features handled by our methodology include change points in the piecewise constant signal model, kinks in the piecewise linear signal model and other similar irregularities, which we also refer to as generalized change points. Our methodology works with only minor modifications across a range of generalized change point scenarios, and we achieve such a high degree of generality by proposing and using a new multiple generalized change point detection device, termed narrowest‐over‐threshold (NOT) detection. The key ingredient of the NOT method is its focus on the smallest local sections of the data on which the existence of a feature is suspected. For selected scenarios, we show the consistency and near optimality of the NOT algorithm in detecting the number and locations of generalized change points. The NOT estimators are easy to implement and rapid to compute. Importantly, the NOT approach is easy to extend by the user to tailor to their own needs. Our methodology is implemented in the R package not.
Service-Dominant Logic: Toward Reframing Business for Enhanced E-Novation

Organizations and people within organizations cling to traditions, industry practices, and managerial frameworks well beyond their usefulness. Perhaps this is just another way of stating the obvious that habits die slowly. One habit or tradition that is experiencing a slow death is the traditional marketing paradigm, referred to as the goods-dominant (G-D) logic paradigm. Essentially, traditional marketing practice is focused on the creation of units of output and their distribution to customers. Applying this framework, the firm attempts to study these exogenous customers and then uses its resources to shape a market offering, conceptualized as product, price, place, and promotion (what is known as the marketing mix or four Ps) in order to effectively position the offering for a targeted segment, thus capturing the customer to create a sale (economic exchange). Although this paradigm has been under assault for decades, it continues to survive and has changed only modestly over the last fifty years. Importantly, it is a paradigm (and practice) that continues to be presented in the leading marketing and marketing management textbooks used on college campuses and in executive education throughout the world. DOI: 10.4018/978-1-4666-1598-4.ch057
Diabetes mellitus negatively affects peri-implant bone formation in the diabetic domestic pig.

AIM Diabetes mellitus is classified as a relative contraindication for implant treatment, and higher failure rates have been seen in diabetic patients. The aim of the present study was to investigate the effect of diabetes on peri-implant bone formation in an animal model of human bone repair. MATERIALS AND METHODS Diabetes was induced by an intra-venous application of streptozotocin (90 mg/kg) in 15 domestic pigs. Implants were placed after significant histopathological changes in the hard and soft tissues were verified. The bone-implant contact (BIC), peri-implant bone mineral density (BMD), and expression of collagen type-I and osteocalcin proteins were qualitatively evaluated 4 and 12 weeks after implantation. Fifteen animals served as healthy controls. RESULTS Diabetes caused pathological changes in the soft and hard tissues. The BIC and BMD were significantly reduced in the diabetic group after 4 and 12 weeks. Collagen type-I was increased in the diabetic group at both time points, whereas osteocalcin was reduced in the diabetic group. CONCLUSIONS Poorly controlled diabetes negatively affects peri-implant bone formation and bone mineralization. These findings have to be taken into consideration for diabetic patients with an indication for implant therapy.
PBOC Should Practice Simple Central Banking To Help RMB Internationalization

There has been recent hype on the rise of the Chinese Renminbi (RMB), since the Chinese membership of the World Trade Organization. After the crises that have been dominating the global financial architecture since 2008, whenever there is a funding shortage anywhere around the world, Chinese cash injection or financial aid seems like an alternative. From Greece to Iceland to Argentina, many countries expect further investment from China. A similar trend surrounds so-called Belt countries around ancient and modern silk roads from maritime to desert lines. This paper argues that there are three reasons for this unique phenomenon. First, China is an emerging country that managed to develop without an external program assisted by the IMF or the like. This is not a debt, but reserve accumulating growth. Second, China managed this growth without any energy or resource bottleneck. Just the opposite, there is now a massive capacity surplus. Third, China is in a very unique position to export capital even it is still an emerging country. This comes from the advantage of huge reserve accumulation in addition to massive direct or indirect RMB liquidity creation opportunities in the form of credits to capital exporting Chinese companies. In this paper, we argue that such a potential may only be realized through simplification of central banking by respecting what backs a fiat currency and how simple it may be possible to manage RMB liquidity transmission without either creating domestic inflation or leading to global liquidity bottlenecks.
Inter-symbol interference comparison for wavelength and waveband switching in all-optical optical cross-connect nodes

Inter-symbol interference caused by filtering effect in the all-optical optical cross-connect (OXC) will lead to degradation of optical signal. We investigate the effect of 40 Gb/s data ISI in the OXC nodes with different modulation formats and various parameters including channel spacing, OXC cascading, and passband profile. We show that waveband switching OXC causes less ISI effect to the signals.
Non Invasive Diagnosis to Predict Adynamic Bone Disease in Haemodialysed Patients

Precise evaluation of the underlying type of bone disease in hemodialysed patients frequently requires bone histomorphometry (including static and kinetic variables after double tetracycline labeling) which is an invasive and costly method. Due to the prevalence of adynamic bone disease in hemodialysis patients, different biochemical non invasive markers such as (serum intact osteocalcin, serum intact parathyroid hormone (iPTH) and bone specific alkaline phospha- tase (bAP) have been shown to be helpful in differentiation between low and high bone turnover. Our study was conducted to detect the usefulness of measuring serum intact osteocalcin and its correlation with serum iPTH and bAP to distinguish adynamic bone disease from other forms of renal osteodystrophy in hemodialysed patients. The study included 60 patients and 20 normal control subjects, presented at renal dialysis units, Ain Shams University hospitals. The hemodialysed patients were classified according to the results serum iPTH and bAP into two groups :  Group I : Included 18 patients (30%) with serum iPTH level 150 pg/ml and serum bAP  27 ng/ml.  Group II : Included 42 patients (70%) with serum iPTH level > 150 pg/ml and serum bAP > 27 ng/ml. The serum level of intact osteocalcin was measured for the control group and for all hemodialysed patients. The results revealed highly significant stastical differences in serum level of intact osteocalcin between all patients group and the control subjects being lower in control group. Also, the results revelaed that 30% of all patients group had adynamic bone disease and comparison between serum level of intact osteocalcin in adynamic bone disease group versus other patients group was highly significant, being higher in other patients group. There was no significant difference between adynamic bone disease patients and other patients as regard serum phosphorus, and serum calcium but there was a sigificant difference as regard age, while highly significant difference as regard sex, duration of hemodialysis, serum intact osteocalin, iPTH and bAP. These results suggest that combined estimation of serum iPTH, serum intact osteocalcin, and bAP can provide a useful information on the bone status in uremic patients and repesent reliable non invasive diagnostic tools for the prediction of adynamic bone disease.
Model driven development of user interfaces for educational games

The main topic of this paper is the problem of developing user interfaces for educational games. Focus of educational games is usually on the knowledge while it should be evenly distributed to the user interface as well. Our proposed solution is based on the model-driven approach, thus we created a framework that incorporates meta-models, models, transformations and software tools. We demonstrated practical application of the mentioned framework by developing user interface for educational adventure game.
Implementation of a Diagnostic Tool for Semi Permanent Electrical Contacts for a Direct Contact Force Measurement

For long service functioning of semi permanent contacts, an optimal and stable contact force is needed. Mechanical stability of contacts leads to reliable electrical performance of the connector. However, a lowering of this contact force is often observed during operations. In a previous paper, information about the contact force was obtained from insertion force measurements together with the friction coefficient of the contact material. To avoid these parameters (insertion force and friction coefficient μ) that may change during mating cycle, an innovative diagnostic tool to directly measure the contact force of each spring of the connector has been investigated, in situ.
Biocompatible, implantable UHF RFID antenna made from conductive ink

A biocompatible UHF RFID antenna operating at 918 MHz under skin was designed and simulated using CST. The antenna was fabricated with aluminum foil (σ = 3.5 × 10<sup>7</sup> S/m) and ELCOAT conductive ink (σ ≈ 1.5 × 10<sup>5</sup> S/m). Measured return loss is better than -5dB and read range surpasses 1 m for both antennas.