Miracle-dz/UniFAR-FTUs huggingface dataset:
Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families: Evidence for common founders and independent mutations

Germ‐line mutations in CDKN2A have been shown to predispose to cutaneous malignant melanoma. We have identified 2 new melanoma kindreds which carry a duplication of a 24bp repeat present in the 5′ region of CDKN2A previously identified in melanoma families from Australia and the United States. This mutation has now been reported in 5 melanoma families from 3 continents: Europe, North America, and Australasia. The M53I mutation in exon 2 of CDKN2A has also been documented in 5 melanoma families from Australia and North America. The aim of this study was to determine whether the occurrence of the mutations in these families from geographically diverse populations represented mutation hotspots within CDKN2A or were due to common ancestors. Haplotypes of 11 microsatellite markers flanking CDKN2A were constructed in 5 families carrying the M53I mutation and 5 families carrying the 24bp duplication. There were some differences in the segregating haplotypes due primarily to recombinations and mutations within the short tandem‐repeat markers; however, the data provide evidence to indicate that there were at least 3 independent 24bp duplication events and possibly only 1 original M53I mutation. This is the first study to date which indicates common founders in melanoma families from different continents. Hum Mutat 11:424–431, 1998. © 1998 Wiley‐Liss, Inc.
The marrow niche controls the cancer stem cell phenotype of disseminated prostate cancer

Dissemination of cancer stem cells (CSCs) serves as the basis of metastasis. Recently, we demonstrated that circulating prostate cancer targets the hematopoietic stem cell (HSCs) ‘niche’ in marrow during dissemination. Once in the niche, disseminated tumor cells (DTCs) may remain dormant for extended periods. As the major function of the HSC niche is to maintain stem cell functions, we hypothesized that the niche regulates CSC activities of DTCs. Here we show that DTCs recovered from marrow were significantly enriched for a CSC phenotype. Critically, the conversion of DTCs to CSCs is regulated by niche-derived GAS6 through the Mer/mTOR; molecules previously shown to regulate dormancy. The data demonstrate that the niche plays a significant role in maintaining tumor-initiating prostate cancer in marrow and suggests a functional relationship between CSCs and dormancy. Understanding how the marrow niche regulates the conversion of DTCs to CSCs is critical for the development of therapeutics specifically targeting skeletal bone metastasis and dormancy.
EVIDENCE OF WALLS IN OBLIQUE IMAGES FOR AUTOMATIC VERIFICATION OF BUILDINGS

With the availability of airborne sensor platforms capable of capturing multiple overlapping images, oblique images have become interesting not only for visualization but also for acquisition, verification and update of vector data. In recent years, techniques for automatic verification of buildings vector data have used building characteristics associated with roof colour, texture and height while oblique images contain wall facade information that can also be used to identify buildings. This paper presents a methodology to verify 2D vector datasets of buildings by searching in oblique images clues such as building edges, wall facade edges and texture. The 2D evidence in images taken from different perspective are transformed to 3D and then matched. Results from experiments clearly distinguish existing buildings from demolished ones. The assessment of a building is done by combining results from individual walls. Thus, besides overall building verification, the results are useful for discriminating demolished walls of modified buildings.
Association between enhanced soluble CD40 ligand and proinflammatory and prothrombotic states in major depressive disorder: pilot observations on the effects of selective serotonin reuptake inhibitor therapy.

OBJECTIVE Major depressive disorder (MDD) is associated with low-grade inflammation, and it is considered a risk factor for coronary artery disease (CAD). CD40 ligand (CD40L) plays an important role in inflammation, platelet activation, and clotting system activation. We investigated soluble CD40L (sCD40L) expression in MDD and assessed whether it may represent a molecular mechanism that links inflammation and a prothrombotic state and whether this condition may be modified by selective serotonin reuptake inhibitor (SSRI) therapy. METHOD Levels of sCD40L, interleukin-1beta (IL-1beta), interleukin-6 (IL-6), tumor necrosis factor-alpha (TNF-alpha), soluble P-selectin (sP-selectin), activated factor VII (FVIIa), and prothrombin fragment 1+2 (F1+2) were measured in 46 drug-naïve, first-episode MDD patients without conventional CAD risk factors and in 46 matched healthy controls. Participants were screened between March 2002 and November 2005. Twenty of the 46 MDD patients were then randomly assigned to either sertraline 100 mg/day (N = 10) or citalopram 20 mg/day (N = 10); the aforementioned variables were measured at baseline and after 6 weeks of treatment. RESULTS Compared with control subjects, MDD patients had higher baseline levels of sCD40L, IL-1beta, IL-6, TNF-alpha, sP-selectin, FVIIa, and F1+2. In the clinical group, sCD40L levels, HAM-D total scores, and proinflammatory markers were strongly intercorrelated. In contrast, there were no significant correlations in the control group. Mood improvement achieved with SSRI therapy was associated with significant reduction in sCD40L, proinflammatory markers, and prothrombotic markers expression. (All p values < .0001.) CONCLUSIONS This pilot study shows that CD40/ CD40L pathway up-regulation in MDD patients relates increased levels of sCD40L to a prothrombotic state and, preliminarily, indicates that SSRI therapy may significantly reduce sCD40L and CD40L levels associated with proinflammatory and prothrombotic states.
Hepatitis‐B‐Associated Glomerulonephritis: Pathology, Pathogenesis, and Clinical Course

Hepatitis-B-associated glomerulonephritis (HBGN) is a distinct entity occurring frequently in hepatitis-B-prevalent areas of the world. The disease affects both adults and children who are chronic hepatitis-B-virus (HBV) carriers with or without a history of overt liver disease. The diagnosis is established by serologic evidence of HBV antigens/antibodies, presence of an immune complex glomerulonephritis, immunohistochemical localization of 1 or more HBV antigens, and pertinent clinical history, when available. In this study we present clinicopathologic and follow-up findings in 12 patients (7 children, 5 adults) with hepatitis-B-associated glomerulonephritis. Twelve patients provided 15 renal biopsies and 1 specimen of kidney tissue, obtained at autopsy; these were examined by light microscopy, electron microscopy, and immunohistochemical methods. Membranous glomerulonephritis (MGN) with or without mesangial proliferation was noted in 7 biopsies, mesangiocapillary (membranoproliferative) glomerulonephritis (MCGN) in 5 biopsies, and proliferative glomerulonephritis with or without membranous changes in 2 biopsies. Tubulointerstitial changes were minimal except in 3 adults, in whom they were attributable to arterionephrosclerosis. Ultrastructural findings included the presence of considerable amounts of focal or diffuse granular electron-dense deposits in the glomeruli, in the subepithelial, subendothelial, and mesangial locations, occasionally destroying or replacing the lamina densa of the basement membrane. Variable mesangial proliferation was also observed, with interposition, with focal irregular reduplication of the basement membranes and rare clusters of spherical particles, probably representing viral particles in the deposits. In addition, granular deposits along tubular basement membranes were seen in 1 case. The glomerular deposits stained for 2 or more immunoglobulins, the predominant one being IgG, and variably also for complement components (C3, C4 and C1q). Hepatitis B viral antigens (HBsAg, HBcAg, HBeAg) were demonstrated using acid elution techniques in the deposits in all biopsies where frozen tissue was available, singly or in a variety of combinations and intensities. There were deposits of IgG, C3, C1q, and HBsAg along the tubular basement membranes in 1 case. Follow-up biopsies in 2 cases, 2 and 5 years apart, showed a transformation from a diffuse MGN to MCGN with segmental membranous features. Follow-up biopsy after 3 years in the third patient, who went into clinical remission, revealed partially resolving glomerular lesions. Renal lesions secondary to chronic liver disease, parasitic diseases, certain tropical nephropathies, and lupus nephritis are some of the diseases that may morphologically resemble HBGN. Recognition and differentiation of HBGN from other entities may have significant prognostic and therapeutic implications. (ABSTRACT TRUNCATED AT 400 WORDS)
Factors That Influence the Use of Electronic Networks by Science and Engineering Faculty at Small Institutions. Part II. Preliminary Use Indicators

The results reported in this article are part of a study that examined factors influencing the adoption and use of electronic networks by science and engineering faculty in six small universities in the southeastern U.S. Part of that study gathered data on the purpose, type, and extent of electronic communications. Data were gathered by mail questionnaire and by follow-up site visits. The article reports on five types of network use, E-mail, electronic discussion groups, accessing remote databases, accessing remote computer facilities, and file transfer. For each service, data are reported for frequency of use by purpose—research, teaching, administration, social, and current awareness. The report outlines preliminary use indicators for each service in terms of heavy and moderate use. © 1997 John Wiley & Sons, Inc.
Comparison of craving between pathological gamblers and alcoholics.

BACKGROUND Craving is a central phenomenon in addiction. Temperament factors are also important for pathologic gambling and other addictions. The aim of this study was to compare craving between pathologic gamblers (PG) and alcohol-dependent subjects (ADS), correlating craving with personality. METHODS Forty-nine PG and 101 ADS willing to start treatment were recruited. A trained psychiatrist diagnosed them according to DSM-IV criteria. To be included in this study, subjects had to be abstinent for at least five days and no longer than 21 days. Alcoholics should have no significant physical withdrawal symptoms by the time of craving assessment. Subjects with current comorbidity with other addictions were excluded, except nicotine. ADS rated craving for alcohol and PG rated craving for gambling on the same questions, respectively. Both answered a semistructured interview, the Temperament and Character Inventory and the Beck Scales for anxiety and depression. RESULTS Pathologic gamblers scored higher than ADS on craving measures (p<0.001) and novelty seeking (p=0.01). ADS scored higher in harm avoidance (p=0.01). Alcohol craving correlated positively with anxiety and novelty seeking and negatively with length of abstinence and persistence. Gambling craving correlated positively with depression and negatively with length of abstinence and reward dependence CONCLUSIONS Pathologic gamblers experienced stronger cravings than did ADS. This may be a disturbing experience for PG and a potential cause for relapse. The higher scores on novelty seeking concur with previous studies that associate PG and impulsivity. ADS higher scores on harm avoidance suggest anxiety vulnerability. The positive relation between alcohol craving, anxiety, and harm avoidance suggests that ADS rely on alcohol to deal with a proclivity to negative emotions. The positive relation of gambling craving to depression and negative relation to reward dependence suggests that individuals who have a lesser susceptibility to experience positive emotions are the ones who most miss gambling when abstaining.
FACTORS AFFECTING THE ADOPTION OF ENTERPRISE RESOURCE PLANNING ( ERP ) ON CLOUD AMONG SMALL AND MEDIUM ENTERPRISES ( SMES ) IN PENANG , MALAYSIA

The purpose of this research is to investigate the effect of cloud security and data privacy, cost effectiveness, Internet reliability, top management support, and competitive pressure factors on the intention to adopt cloud-based ERP system by Small and Medium Enterprises (SMEs) in Penang, Malaysia. This study employs a survey method where 300 SMEs in both manufacturing and service sectors were selected from a list taken from the SME Corporation Malaysia (SME Corp) website. Statistical Package for Social Science (SPSS) version 20 was used to analyze the collected data. There were 51 valid data records from the manufacturing sector as well as 51 valid data responses from the service sector. This paper has developed a theoretical model using the Technological Organizational Environmental (TOE) framework and formulated several hypotheses. The results of this study have revealed that the top management support factor significantly and positively correlates with the intention to adopt cloud-based ERP system in manufacturing SMEs only. In addition, the analyses have found that all the factors have no significant impact on the intention to adopt cloud-based ERP system in both sectors. The practical contribution in this research will be the guidelines for cloud-based ERP providers, SMEs, as well as the Malaysian government in order to encourage the application of cloud-based ERP systems by SMEs.
Analysis of LRRK2 Gly2385Arg genetic variant in non‐Chinese Asians

A common LRRK2 missense variant, Gly2385Arg, has been found to be a genetic risk factor for Parkinson's disease (PD) in ethnic Chinese and Japanese. However, the presence of the variant in other non‐Chinese Asian patients has not been fully clarified. We performed genetic analysis of the Gly2385Arg variant in 472 non‐Chinese Asian subjects in Singapore (comprising of 166 PD and 306 controls of Malay/Indian ethnicity). The frequency of the heterozygous Gly2385Arg genotype was not significantly different in PD compared with controls (1.2% vs. 0.8%, odds ratio = 2.83, 95% CI 0.40, 20.2, P = 0.3). No subjects carried the homozygous genotype. Stratification by Malay and Indian ethnicity revealed that there were two carriers each among 98 (2.0%) Malay PD and 173 (1.2%) Malay controls (odds ratio = 1.78, 95% CI 0.25, 12.8, P = 0.6), but there were no carriers among 66 Indian PD and 133 Indian controls. We demonstrated that the Gly2385Arg variant could be detected in our Malay subjects. However, its frequency was much lower than the 8 to 10% prevalence previously reported in our Singaporean and Taiwanese Chinese PD population. The relevance of Gly2385Arg as a genetic risk factor may be restricted to selected Asian races, and more studies will be needed to confirm our observations. © 2007 Movement Disorder Society
Face/Fingerphoto Spoof Detection under Noisy Conditions by using Deep Convolutional Neural Network

Most of the generic camera based biometrics systems, such as face recognition systems, are vulnerable to print/photo attacks. Spoof detection, which is to discriminate between live biometric information and attacks, has received increasing attentions recently. However, almost all the previous studies have not concerned the influence of the image distortion caused by the camera defocus or hand movements during image capturing. In this research, we first investigate local texture based anti-spoofing methods including existing popular methods (but changing some of the parameters) by using publicly available spoofed face/finger photo/video databases. Secondly, we investigate the spoof detection under the camera defocus or hand movements during image capturing. To simulate image distortion caused by camera defocus or hand movements, we create blurred test images by applying image filters (Gaussian blur or motion blur filters) to the test datasets. Our experimental results demonstrate that modifications of the existing methods (LBP, LPQ, DCNN) or the parameter tuning can achieve less than 1/10 of HTER(half total error rate)compared to the existing results. Among the investigated methods, the DCNN (AlexNet) can achieve the stable accuracy under the increasing intensity of the blurring noises.
Negation in early L2: a “window” on language genesis

Early second language has been defined as a restricted linguistic system that can offer a “window” on language genesis. In this paper, I model the acquisition of negation by L2 (adult) learners as a sequence of constraint rankings in the framework of Optimality Theory. The rankings shift from pragmatics via conventionalization of negation as a focus operator to syntax. Early language is argued to follow the same path. The transition from protolanguage to language is located in the shift from pragmatic combinations of symbols to semantic recursion over propositions as visible in the use of negation as a truth-functional operator. In this view, semantic recursion precedes and drives syntactic recursion.
Similarities and Differences Between Intraductal Papillary Tumors of the Bile Duct With and Without Macroscopically Visible Mucin Secretion

Intraductal papillary neoplasms of the bile duct (IPNB) have been recently proposed as the biliary counterpart of intraductal papillary mucinous neoplasms of the pancreas (IPMN-P). However, in contrast to IPMN-P, IPNB include a considerable number of the tumors without macroscopically visible mucin secretion. Here we report the similarities and differences between IPNB with and without macroscopically visible mucin secretion (IPNB-M and IPNB-NM). Surgically resected 27 consecutive cases with IPNB were divided into IPNB-M (n=10) and IPNB-NM (n=17), and their clinicopathologic features were examined. Clinically, both tumors were similar. Pathologically, the most frequent histopathologic types were pancreatobiliary in IPNB-NM and intestinal in IPNB-M. Various degrees of cytoarchitectural atypia within the same tumor were exhibited in 8 IPNB-M, but only 3 in IPNB-NM. Although the tumor size was similar, 9 IPNB-NM were invasive carcinoma, whereas all but 1 IPNB-M with carcinoma were in situ or minimally invasive. Immunohistochemically, positive MUC2 expression was significantly more frequent in IPNB-M than in IPNB-NM, whereas MUC1 tended to be more frequently expressed in IPNB-NM compared with IPNB-M. Among IPNB-NM with positive MUC1 expression, 3 had negative MUC2 and MUC5AC expressions. These tumors showed a tubulopapillary growth with uniform degree of cytoarchitectural atypia. All IPNB-M were negative for p53, and the frequency of positive p53 protein in IPNB-NM was at the middle level of that in IPNB-M and nonpapillary cholangiocarcinoma. In conclusion, IPNB-M showed striking similarities to IPMN-P, but IPNB-NM contained heterogeneous disease groups.
The Self-Organization of Insight: Entropy and Power Laws in Problem Solving

Explaining emergent structure remains a challenge for all areas of cognitive science, and problem solving is no exception. The modern study of insight has drawn attention to the issue of emergent cognitive structure in problem solving research. We propose that the explanation of insight is beyond the scope of conventional approaches to cognitive science in terms of symbolic representation. Cognition may be better described in terms of an open, nonlinear dynamical system. By this reasoning, insight would be the self-organization of novel structure. Self-organization is a well-studied phenomenon of dynamical systems theory, associated with specific trends in entropy and power-law behavior. We present work using nonlinear dynamics to capture these trends in entropy and power-law behavior and thus to predict the self-organization of novel cognitive structure in a problem-solving task. Future explorations of problem solving will benefit from considerations of the continuous nonlinear interactions among action, cognition, and the environment.
Functional Appliances: A Mortgrage On Mandibular Position

It is a popular article of faith that clinicians and academics are polar opposites. In recent years, the supposed chasm separating town and gown has been the subject of aggrieved letters to the editor and embarrassing, intemperate comments at meetings. The seemingly eternal none of contention is the standard of proof necessary to the conduct of a rational clinical practice.
An acid-base disorders analysis with the use of the Stewart approach in patients with sepsis treated in an intensive care unit.

BACKGROUND Patients with sepsis admitted to the intensive care unit often present with acid-base disorders. As the traditional interpretation might be clinically misleading, an alternative approach described by Stewart may allow one to quantify the individual components of acid-base abnormalities and provide an insight into their pathogenesis. The aim of our study was to compare the traditional and Stewart approaches in the analysis of acid-base disturbance. METHODS We analyzed arterial blood gases (ABG) taken from 43 ICU septic patients from admission to discharge categorising them according to SBE values. The traditional concept analysis was compared with the physicochemical approach using the Stewart equations. RESULTS 990 ABGs were analysed. In the SBE < -2 mEq L⁻¹ group, hyperlactatemia was observed in 34.7% ABG, hypoalbuminemia in 100% and SIG acidosis in 42% ABG. Moreover, a Cl/Na ratio > 0.75 was present in 96.9% ABG. In the normal range SBE group, elevated lactates were present in 21.3% ABG, SIG acidosis in 14.9%, elevated Cl/Na ratio in 98.4% and hypoalbuminemia in all 324 ABG. In the metabolic alkalosis group (SBE > +2 mEq L⁻¹), hyperlactatemia was observed in 18.4% ABG, SIG acidosis in 5% ABG, Cl/Na ratio> 0.75 in 88.8%, while 99.1% samples revealed hypoalbuminemia. CONCLUSION The use of the Stewart model may improve our understanding of the underlying pathophysiological mechanism and the true etiology of the derangements of acid-base disorders. Indeed, it proves that patients may suffer from mixed arterial blood gas disorders hidden under normal values of SBE and pH.
Coronary-artery stenting compared with balloon angioplasty for restenosis after initial balloon angioplasty. Restenosis Stent Study Group.

BACKGROUND Intracoronary stenting reduces the rate of restenosis after angioplasty in patients with new coronary lesions. We conducted a prospective, randomized, multicenter study to determine whether intracoronary stenting, as compared with standard balloon angioplasty, reduces the recurrence of luminal narrowing in restenotic lesions. METHODS A total of 383 patients who had undergone at least one balloon angioplasty and who had clinical and angiographic evidence of restenosis after the procedure were randomly assigned to undergo standard balloon angioplasty (192 patients) or intracoronary stenting with a Palmaz-Schatz stent (191 patients). The primary end point was angiographic evidence of restenosis (defined as stenosis of more than 50 percent of the luminal diameter) at six months. The secondary end points were death, Q-wave myocardial infarction, bypass surgery, and revascularization of the target vessel. RESULTS The rate of restenosis was significantly higher in the angioplasty group than in the stent group (32 percent as compared with 18 percent, P= 0.03). Revascularization of the target vessel at six months was required in 27 percent of the angioplasty group but in only 10 percent of the stent group (P=0.001). This difference resulted from a smaller mean (+/-SD) minimal luminal diameter in the angioplasty group (1.85+/-0.56 mm) than in the stent group (2.04+/-0.66 mm), with a mean difference of 0.19 mm (P=0.01) at follow-up. Subacute thrombosis occurred in 0.6 percent of the angioplasty group and in 3.9 percent of the stent group. The rate of event-free survival at 250 days was 72 percent in the angioplasty group and 84 percent in the stent group (P=0.04). CONCLUSIONS Elective coronary stenting was effective in the treatment of restenosis after balloon angioplasty. Stenting resulted in a lower rate of recurrent stenosis despite a higher incidence of subacute thrombosis.