Miracle-dz/UniFAR-FTUs huggingface dataset:
Beaulieu–Boycott–Innes syndrome: an intellectual disability syndrome with characteristic facies

We report a female child from an Irish Traveller family presenting with severe intellectual disability, dysmorphic features, renal anomalies, dental caries and cyclical vomiting. Current health issues include global developmental delay, mild concentric left ventricular hypertrophy, dental malocclusion and caries and a single duplex left kidney. The proband and her mother also have multiple epiphyseal dysplasia. Whole-exome sequencing was performed to identify the underlying genetic cause. DNA from the proband was enriched with the Agilent Sure Select v5 Exon array and sequenced on an Illumina HiSeq. Rare homozygous variants were prioritized. Whole-exome sequencing identified three linked homozygous missense variants in THOC6 (c.298T>A, p.Trp100Arg; c.700G>C, p.Val234Leu; c.824G>A, p.Gly275Asp) as the likely cause of this child’s intellectual disability syndrome, resulting in a molecular diagnosis of Beaulieu–Boycott–Innes syndrome (BBIS). This is the first report of BBIS in Europe. BBIS has been reported previously in two Hutterite families and one Saudi family. A review of all patients to date shows a relatively homogenous phenotype. Core clinical features include low birth weight with subsequent growth failure, short stature, intellectual disability with language delay, characteristic facies, renal anomalies and dental malocclusion with caries. Some patients also have cardiac defects. All patients show characteristic dysmorphic facial features including a tall forehead with high anterior hairline and deep-set eyes with upslanting palpebral fissures. The coexistence of intellectual disability together with these characteristic facies should provide a diagnostic clue for BBIS during patient evaluation.
Pornography addiction – a supranormal stimulus considered in the context of neuroplasticity

Addiction has been a divisive term when applied to various compulsive sexual behaviors (CSBs), including obsessive use of pornography. Despite a growing acceptance of the existence of natural or process addictions based on an increased understanding of the function of the mesolimbic dopaminergic reward systems, there has been a reticence to label CSBs as potentially addictive. While pathological gambling (PG) and obesity have received greater attention in functional and behavioral studies, evidence increasingly supports the description of CSBs as an addiction. This evidence is multifaceted and is based on an evolving understanding of the role of the neuronal receptor in addiction-related neuroplasticity, supported by the historical behavioral perspective. This addictive effect may be amplified by the accelerated novelty and the ‘supranormal stimulus’ (a phrase coined by Nikolaas Tinbergen) factor afforded by Internet pornography.
Probing the Hepatic Progenitor Cell in Human Hepatocellular Carcinoma

Objective. The intrahepatic stem cells, also known as hepatic progenitor cells (HPCs), are able to differentiate into hepatocytes and bile duct epithelia. By exposure of different injuries and different hepatocarcinogenic regimens, the mature hepatocytes can no longer effectively regenerate; stem cells are involved in the pathogenesis of hepatocellular carcinoma. Methods. Immunohistochemistry was performed on 107 paraffin-embedded hepatocellular carcinoma specimens with the marker of hepatocyte and hepatocellular carcinoma (HepPar1), biliary differentiation (CK7,CK19), haemopoietic stem cell (HSC) (c-kit/CD117, CD34, and Thy-1/CD90), HPC specific markers (OV-6), and Ki-67, p53 protein. Results. HPCs can be identified in the tumor nodules, around the edge of tumor nodules, and in the portal tracts of the paracirrhosis nodules being positive in HepPar1, CK7, CK19, and OV-6, but they failed to immunostain with CD117, CD34, and CD90. The HPCs positive in Ki-67 are observed in the tumor and paracirrhosis tissues. In 107 specimens, 40.2% (43/107) HCC tissues expressed p53 protein, lower than that of the HPCs around the tumor nodules (46.7%, 50/107) and much higher than that of the HPCs around the paracirrhosis nodules (8.41%, 9/107). Conclusion. Human hepatocellular carcinogenesis may be based on transformation of HPCs, not HSCs, through the formation of the transitional cells (hepatocyte-like cells and bile ductal cells).
High speed galloping in the cheetah (Acinonyx jubatus) and the racing greyhound (Canis familiaris): spatio-temporal and kinetic characteristics

SUMMARY The cheetah and racing greyhound are of a similar size and gross morphology and yet the cheetah is able to achieve a far higher top speed. We compared the kinematics and kinetics of galloping in the cheetah and greyhound to investigate how the cheetah can attain such remarkable maximum speeds. This also presented an opportunity to investigate some of the potential limits to maximum running speed in quadrupeds, which remain poorly understood. By combining force plate and high speed video data of galloping cheetahs and greyhounds, we show how the cheetah uses a lower stride frequency/longer stride length than the greyhound at any given speed. In some trials, the cheetahs used swing times as low as those of the greyhounds (0.2 s) so the cheetah has scope to use higher stride frequencies (up to 4.0 Hz), which may contribute to it having a higher top speed that the greyhound. Weight distribution between the animal's limbs varied with increasing speed. At high speed, the hindlimbs support the majority of the animal's body weight, with the cheetah supporting 70% of its body weight on its hindlimbs at 18 m s–1; however, the greyhound hindlimbs support just 62% of its body weight. Supporting a greater proportion of body weight on a particular limb is likely to reduce the risk of slipping during propulsive efforts. Our results demonstrate several features of galloping and highlight differences between the cheetah and greyhound that may account for the cheetah's faster maximum speeds.
A Two-Stage Correlation Method for Stereoscopic Depth Estimation

The computation of stereoscopic depth is an important field of computer vision. Although a large variety of algorithms has been developed, the traditional correlation-based versions of these algorithms are prevalent. This is mainly due to easy implementation and handling but also to the linear computational complexity, as compared to more elaborated algorithms based on diffusion processes, graph-cut or bilateral filtering. In this paper, we introduce a new two-stage matching cost for the traditional approach: the summed normalized cross-correlation (SNCC). This new cost function performs a normalized cross-correlation in the first stage and aggregates the correlation values in a second stage. We show that this new measure can be implemented efficiently and that it leads to a substantial improvement of the performance of the traditional stereo approach because it is less sensitive to high contrast outliers.
A Clinical Study in Pregnant Women Over the Age of 35

목적 : 35세 이상 고령산모의 산전, 산후 및 신생아 동향에 대해 그 임상 양상을 파악하여 향후 고령산모에 대한 적절한 치료 계획을 세우고자 한다. 연구 대상 및 방법 : 1999년 12월부터 2001년 5월까지 본원에서 분만한 954명 산모 중 35세 이상 89명을 연구군으로, 30세 미만 산모 중 99명을 무작위로 추출하여 대조군으로 설정한 후 비교 분석하였다. 통계처리 방법은 Chi-squre test 및 Mantel-Haenszel trend test를 실시하였고 p value 0.05 이하를 통계적으로 유의하다고 정의하였다. 결과 : 조산의 경우 연구군은 31.5% 대조군은 8.1%로, 제왕 절개수술은 연구군 61.8% 대조군은 36.3%로 나타나 두 경우 모두 연구군에서 통계적으로 유의하게 높게 나타났다. 산전 합병증의 경우 두 군간의 유의한 차이점은 없었고, 산후 합병증은 자궁 적출술이 연구군에서 4예 대조군에서 1예 나타났다. 신생아 합병증에서는 신생아 중환자실 입원과 신생아 기형이 연구군에서 높게 나타났다. 또한 초산모간의 비교에서 연구군 (n=21)은 대조군 (n=63)에 비해 조산과 제왕절개수술이 높게 나타났다. 결론 : 35세 이상 고령산모에서 조산과 제왕절개술의 빈도가 유의하게 높았으나 산전 합병증 및 신생아 합병증에서 차이점을 발견하지 못했다. 이에 모든 고령산모를 고 위험 산모로 간주하는 것은 타당하지 않으며 적절한 산전 및 산후 처치를 하면 고령산모에서 주산기 예후에 큰 문제점은 없을 것으로 사료된다.
Asymptotic equivalence for nonparametric regression

We consider a nonparametric model E, generated by independent observations Xi, i = 1, . , n, with densities p(x, θi), i = 1, . , n, the parameters of which θi = f(i/n) ∈ Θ are driven by the values of an unknown function f : [0, 1]→ Θ in a smoothness class. The main result of the paper is that, under regularity assumptions, this model can be approximated, in the sense of the Le Cam deficiency pseudodistance, by a nonparametric Gaussian shift model Yi = Γ(f(i/n)) + εi, where ε1, . , εn are i.i. d. standard normal r.v. ’s, the function Γ(θ) : Θ → R satisfies Γ′(θ) = √ I(θ) and I(θ) is the Fisher information corresponding to the density p(x, θ).
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

Choroideremia (CHM) is a rare X-linked disease leading to progressive retinal degeneration resulting in blindness. The disorder is caused by mutations in the CHM gene encoding REP-1 protein, an essential component of the Rab geranylgeranyltransferase (GGTase) complex. In the present study, we evaluated a multi-technique analysis algorithm to describe the mutational spectrum identified in a large cohort of cases and further correlate CHM variants with phenotypic characteristics and biochemical defects of choroideremia patients. Molecular genetic testing led to the characterization of 36 out of 45 unrelated CHM families (80%), allowing the clinical reclassification of four CHM families. Haplotype reconstruction showed independent origins for the recurrent p.Arg293* and p.Lys178Argfs*5 mutations, suggesting the presence of hotspots in CHM, as well as the identification of two different unrelated events involving exon 9 deletion. No certain genotype-phenotype correlation could be established. Furthermore, all the patients´ fibroblasts analyzed presented significantly increased levels of unprenylated Rabs proteins compared to control cells; however, this was not related to the genotype. This research demonstrates the major potential of the algorithm proposed for diagnosis. Our data enhance the importance of establish a differential diagnosis with other retinal dystrophies, supporting the idea of an underestimated prevalence of choroideremia. Moreover, they suggested that the severity of the disorder cannot be exclusively explained by the genotype.
Short- and Long-Term Success of Substrate-Based Mapping and Ablation of Ventricular Tachycardia in Arrhythmogenic Right Ventricular Dysplasia

Background—Multiple morphologies, hemodynamic instability, or noninducibility may limit ventricular tachycardia (VT) ablation in patients with arrhythmogenic right ventricular dysplasia (ARVD). Substrate-based mapping and ablation may overcome these limitations. We report the results and success of substrate-based VT ablation in ARVD. Methods and Results—Twenty-two patients with ARVD were studied. Traditional mapping for VT was limited because of multiple/changing VT morphologies (n=14), nonsustained VT (n=10), or hemodynamic intolerance (n=5). Sinus rhythm CARTO mapping was performed to define areas of “scar” (<0.5 mV) and “abnormal” myocardium (0.5 to 1.5 mV). Ablation was performed in “abnormal” regions, targeting sites with good pace maps compared with the induced VT(s). Linear lesions were created in these areas to (1) connect the scar/abnormal region to a valve continuity or other scar or (2) encircle the scar/abnormal region. Eighteen patients had implanted cardioverter defibrillators, 15 had implanted cardioverter defibrillator therapies, and 7 had sustained VT (6 with syncope). VTs (3±2 per patient) were induced (cycle length, 339±94 ms), and scar was identified in all patients. Scar areas were related to the tricuspid annulus, proximal right ventricular outflow tract, and anterior/inferior-apical walls. Lesions connected abnormal regions to the annulus (n=12) or other scars (n=4) and/or encircled abnormal regions (n=13). Per patient, a mean of 38±22 radiofrequency lesions was applied. Short-term success was achieved in 18 patients (82%). VT recurred in 23%, 27%, and 47% of patients after 1, 2, and 3 years' follow-up, respectively. Conclusions—Substrate-based ablation of VT in ARVD can achieve a good short-term success rate. However, recurrences become increasingly common during long-term follow-up.
Splenic Abscess: A Single Institution Study and Review of the Literature

Purpose The aim of this study was to review our experience with splenic abscesses, with respect to the relevant aspects of splenic abscesses and treatment outcomes. Materials and Methods We reviewed the cases of 18 patients who had splenic abscesses and who were treated at our hospital from November 1993 to December 2008. Results The most common symptom at presentation was abdominal pain in 12 patients (66.7%). The median duration from symptom onset until establishment of a diagnosis was 22 days. Streptococcus viridians was the most common pathogen (27.8%), follow by Klebsiella pneumoniae (22.2%). The mortality rate during the inpatient period and the previous 90 days was 16.6%. Three of four patients with Klebsiella pneumoniae showed a single abscess pocket. Four patients (22.2%) underwent percutaneous drainage, eight (44.5%) recieved antibiotic treatment only and six (33.3%) underwent splenectomy. Conclusion There is no gold standard for treating splenic abscesses. Treatment should be customized for each patient.
Implications of Information Technology in Developing Countries and Its Impact in Organizational Change

The survival and growth of organizations in an increasingly turbulent environment would depend upon effective utilization of information technology for aligning the organizational structure with environmental preferences and for creating symbiotic interorganizational structures. How can IT help the organizations in responding to the challenges of an increasingly complex and uncertain environment? How can IT help the organizations achieve the “flexible” organization structure? These are the topics that remains to be a matter of question for many developing countries. Although Information technology is still a “black box” technology for developing countries, it is largely applied in industrialised countries to the disadvantage of the majority of developing countries. This paper will try to illuminate the aspects and the impact of Information Technology in managing organizational change and its implications for developing countries.
Quantifying the Effect of Using Kanban versus Scrum: A Case Study

Proponents of various processes and methods in the agile and lean communities have made many bold claims about usefulness, but those claims are rarely supported by empirical investigations. Data gathered from more than 12,000 work items collected over two years sheds light on Kanban versus Scrum.To acquire more knowledge about the performance of different agile or lean methods, scholars should conduct similar studies in different organizations in different application domains and with people of different cultures and competences.
Quantum tunneling beyond semiclassical approximation

Hawking radiation as tunneling by Hamilton-Jacobi method beyond semiclassical approximation is analysed. We compute all quantum corrections in the single particle action revealing that these are proportional to the usual semiclassical contribution. We show that a simple choice of the proportionality constants reproduces the one loop back reaction effect in the spacetime, found by conformal field theory methods, which modifies the Hawking temperature of the black hole. Using the law of black hole mechanics we give the corrections to the Bekenstein-Hawking area law following from the modified Hawking temperature. Some examples are explicitly worked out.
Effect of Phosphorylation on Activities of Rap1A to Interact with Raf-1 and to Suppress Ras-dependent Raf-1 Activation*

Rap1A is phosphorylated by cAMP-dependent protein kinase (PKA), and this phosphorylation has been shown to modulate its interaction with other proteins. However, it is not known whether Rap1A phosphorylation is involved in regulation of its cellular functions, including suppression of Ras-dependent Raf-1 activation. We have previously shown that this suppressive activity of Rap1A is attributable to its greatly enhanced ability to bind to the cysteine-rich region (CRR, residues 152–184) of Raf-1 compared with that of Ras. Here, we show that phosphorylation of Rap1A by PKA abolished its binding activity to CRR. Furthermore, a mutant Rap1A(S180E), whose sole PKA phosphorylation residue, Ser-180, was substituted by an acidic residue, Glu, to mimic its phosphorylated form, failed to suppress Ras-dependent Raf-1 activation in COS-7 cells. These results indicate that the CRR binding activity and the Ras-suppressive function of Rap1A can be modulated through phosphorylation and suggest that Rap1A may function as a PKA-dependent regulator of Raf-1 activation, not merely as a suppressor.
Association of cytokine gene polymorphisms in CWP and its severity in Turkish coal workers.

BACKGROUND Cytokines appear to play a key role in some inflammatory reactions affecting the interactions among pro- and anti-inflammatory mechanisms that result in several diseases such as coal workers' pneumoconiosis (CWP). In this study, to determine the cytokine gene profiles of Turkish coal miners, we performed genotyping analysis to investigate the polymorphisms of CWP-related pro-inflammatory (TNFA, IL1A, IL1B, and IL6) and anti-inflammatory cytokines (IL-1RN and TGFB1). An additional goal was to observe whether these cytokine gene polymorphisms influence the development risk and severity of. METHODS Genotyping was carried out by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. RESULTS TNFA (-238) gene polymorphism principally affected CWP development and severity (OR = 3.47: 95% CI, 1.12-10.77 and OR = 4.30: 95% CI, 1.25-14.74, respectively) and also risk of CWP (OR = 3.79: 95% CI, 1.37-10.46). The TNFA (-308) variant was associated with a risk for the CWP severity (OR = 2.84: 95% CI, 1.08-7.39). A protective effect of IL6 was found on the development (OR = 0.48: 95% CI, 0.21-0.93) and severity of CWP (OR = 0.37: 95% CI, 0.15-0.91). CONCLUSIONS We suggest that TNFA (-238) variant may be a risk factor in both development and the severity of CWP, while TNFA (-308) variant seems to be important only in disease severity. On the other hand, IL6 variant may have a protective effect on the development and disease severity.
Gender as an influencer of online health information‐seeking and evaluation behavior

This article contributes to the growing body of research that explores the significance of context in health information behavior. Specifically, through the lens of trust judgments, it demonstrates that gender is a determinant of the information evaluation process. A questionnaire‐based survey collected data from adults regarding the factors that influence their judgment of the trustworthiness of online health information. Both men and women identified credibility, recommendation, ease of use, and brand as being of importance in their trust judgments. However, women also take into account style, while men eschew this for familiarity. In addition, men appear to be more concerned with the comprehensiveness and accuracy of the information, the ease with which they can access it, and its familiarity, whereas women demonstrate greater interest in cognition, such as the ease with which they can read and understand the information. These gender differences are consistent with the demographic data, which suggest that: women consult more types of sources than men; men are more likely to be searching with respect to a long‐standing health complaint; and, women are more likely than men to use tablets in their health information seeking. Recommendations for further research to better inform practice are offered.
Crowd-based personal radars for indoor mapping using UWB measurements

The concept of personal radar has recently emerged as an interesting solution for future simultaneous localization and mapping (SLAM) applications. In this paper we evaluate the performance of an ultrawide-band (UWB) radar system for indoor environments mapping by exploiting a grid-based Bayesian approach able to combine all the measurements collected by radars adopting non-pencil beam antennas. In the proposed approach, the crowd will be involved by freely exploring the space, sending environmental partial views of it to cloud servers, where a complete map will be formed. Results show how the mapping accuracy can be improved thanks to the information collected from the crowd and considering different receivers schemes.
Influenza A Virus Induces Interleukin-27 through Cyclooxygenase-2 and Protein Kinase A Signaling*

Background: Interleukin (IL)-27 is significantly elevated in influenza patients. Results: IL-27 inhibits influenza A virus (IAV) replication and its expression is mediated by cyclooxygenase-2, protein kinase A (PKA), and the cAMP-response element-binding protein pathway. Conclusion: IL-27 exerts antiviral function through activation of STAT1/2/3 and PKR phosphorylation. Significance: IL-27 is one host immune factor produced in response to IAV infection. We previously reported that IL-27, which belongs to the IL-12 family of cytokines, is elevated in the serum of patients infected with influenza A virus (IAV). Here, we show that the expression of IL-27 was significantly up-regulated in A549 human lung epithelial cells and human peripheral blood mononuclear cells infected with IAV. Additionally, IAV triggered IL-27 expression through protein kinase A and cAMP-response element-binding protein signaling, which was mediated by cyclooxygenase-2-derived prostaglandin E2. IL-27 inhibited IAV replication by STAT1/2/3 phosphorylation and activated antiviral factor protein kinase R phosphorylation. Clinical analysis showed that IL-27 levels were significantly elevated in a cohort of patients infected with IAV compared with healthy individuals and that circulating IL-27 levels were tightly and positively correlated with prostaglandin E2 levels. These results indicate that IL-27 expression is one host immune factor produced in response to IAV infection and that elevated IL-27 levels inhibit viral replication.
Effects of prenatal meprobamate and chlordiazepoxide hydrochloride on human embryonic and fetal development.

Abstract To examine the teratogenic potential of the minor tranquilizers, the incidence of severe congenital anomalies per 100 live births was studied in children of mothers who had received prescriptions for meprobamate, chlordiazepoxide, other drugs, or no drug for minor psychoneurotic complaints (anxiety) during pregnancy. These four populations were from a prospective longitudinal study of pregnancy and child health that included 19,044 live births. Rates of the anomalies after prescription of meprobamate or chlordiazepoxide in early pregnancy (the first 42 days) were higher 12.1 per 100 and 11.4 per 100 respectively than in children of the other-drug, 4.6 per 100, or no-drug cohorts, 2.6 per 100. When the reference date was later in pregnancy (43 days to termination), statistically insignificant differences in rates of the anomalies were observed among the four groups. These data suggest that meprobamate, and possibly chlordiazepoxide, may be teratogenic when taken during the first six weeks of gesta.
Cannabis and anxiety: a critical review of the evidence

Anxiety reactions and panic attacks are the acute symptoms most frequently associated with cannabis use. Understanding the relationship between cannabis and anxiety may clarify the mechanism of action of cannabis and the pathophysiology of anxiety. Aims of the present study were to review the nature of the relationship between cannabis use and anxiety, as well as the possible clinical, diagnostic and causal implications.