Miracle-dz/UniFAR-FTUs huggingface dataset:
Fragile X full mutation alleles composed of few alleles: Implications for CGG repeat expansion

Southern analysis of the FMR1 repeat region has suggested that individuals with the full mutation usually carry a heterogeneous array of FMR1 alleles in somatic tissue that can range from 200 to more than 1,000 repeats. Our studies indicate that this heterogeneity is an artifact generated by ethidium bromide commonly used in Southern analysis. When analyzed in the absence of ethidium bromide, nearly all full mutation individuals carried only one to four major alleles and did not exhibit the heterogeneity often referred to as a “smear” in the literature. Full mutations in chorionic villi, however, exhibited much greater heterogeneity. Nine transmissions from mothers with full mutation alleles to offspring indicated that the full mutations continued to expand in transmission to the next generation. In contrast, analysis of leukocyte DNA from three full mutation males revealed no change in somatic full mutation alleles over many years. Our studies support the hypothesis that the FMR1 CGG repeat instability is limited to very early embryogenesis in the soma. These studies also have clinical importance because the omission of ethidium bromide will facilitate the diagnosis of females with full mutation alleles. © 2007 Wiley‐Liss, Inc.
Pharmacokinetics of acyclovir suspension in infants and children

Eighteen children from 3 weeks to 6.9 years of age were given an oral acyclovir suspension for herpes simplex or varicella-zoster virus infections. Thirteen patients who were 6 months to 6.9 years old received 600 mg/m2 per dose, and three infants and two children less than 2 years old were given 300 mg/m2 per dose. The drug was given four times a day, except to one infant who was treated with three doses a day. Among the 13 children who received the 600-mg/m2 dose, the maximum concentration in plasma (Cmax) was 0.99 +/- 0.38 microgram/ml (mean +/- standard deviation), the time to maximum concentration (Tmax) was 3.0 +/- 0.86 h, the area under the curve (AUC) was 5.56 +/- 2.17 micrograms.h/ml, and the elimination half-life (t1/2) was 2.59 +/- 0.78 h. The three infants less than 2 months of age who received the 300-mg/m2 dose had a Cmax of 1.88 +/- 1.11 micrograms/ml, a Tmax of 4.10 +/- 0.48 h, an AUC of 6.54 +/- 4.32 micrograms.h/ml, and a t1/2 of 3.26 +/- 0.33 h. The acyclovir suspension was well tolerated by young children. No adverse effects requiring discontinuation of the drug occurred.
[Influence of autoclave sterilization on dimensional stability and detail reproduction of 5 additional silicone impression materials].

OBJECTIVE To evaluate the dimensional stability and detail reproduction of five additional silicone impression materials after autoclave sterilization. METHODS Impressions were made on the ISO 4823 standard mold containing several marking lines, in five kinds of additional silicone. All the impressions were sterilized by high temperature and pressure (135 °C, 212.8 kPa) for 25 min. Linear measurements of pre-sterilization and post-sterilization were made with a measuring microscope. Statistical analysis utilized single-factor analysis with pair-wise comparison of mean values when appropriate. Hypothesis testing was conducted at alpha = 0.05. RESULTS No significant difference was found between the pre-sterilization and post-sterilization conditions for all locations, and all the absolute valuse of linear rate of change less than 8%. All the sterilization by the autoclave did not affect the surfuce detail reproduction of the 5 impression materials. CONCLUSIONS The dimensional stability and detail reproduction of the five additional silicone impression materials in the study was unaffected by autoclave sterilization.
The Biological Age of 14-year-old Boys and Success in Adult Soccer: Do Early Maturers Predominate in the Top-level Game?

Talent identification and development in soccer is often biased by maturation-related differences of young athletes. However, there is no information available about success rates for youth maturing at different tempos to achieve success in elite adult soccer. The purposes of this study were to determine the prevalence of different maturational groups among boys playing soccer, and to track them for competence in adult performance. A prospective cohort study design was used to follow 55, 14-year-old boys playing in Serbian youth soccer Division I over eight years. At the age of 14, biological age using skeletal age rates was determined, and participants were categorized as early maturers (EaM), normal maturers (NoM), and late maturers (LaM). Game competence for adult soccer at age 22 was described as elite if an individual played for clubs competing in top-five international soccer leagues (La Liga, Premier League, Bundesliga, Serie A, and Ligue 1), and/or has become a member of an adult National team. Among boys in our study group, 43.8% were categorized as EaM, 35.4% as NoM, and 20.8% as LaM (P = 0.11). A significant difference in biological age was found among maturational groups at age 14, with EaM > NoM > LaM (P > 0.0001). When assessed for adult soccer competence, 33.3% of participants (16 out of 48 players) succeed in achieving elite level. Elite soccer competence acquired 60.1% players from the group of LaM, 38.1% from NoM, and 11.8% from EaM (P > 0.0001). Our comparative analysis suggests that soccer excludes early maturing boys and favors late maturing boys as level of performance increases.
Impact of type 2 diabetes on manifestations and treatment outcome of pulmonary tuberculosis

SUMMARY Diabetes mellitus (DM) is a known risk factor for pulmonary tuberculosis (PTB). This study aimed to determine if type 2 DM alters manifestations and treatment outcome of PTB. Records of 217 consecutive culture-proven PTB patients were analysed retrospectively. The manifestations and treatment outcomes of 74 patients with type 2 DM (PTB-DM group) were compared to 143 patients without DM (PTB group). PTB-DM patients showed higher frequencies of fever, haemoptysis, positive acid-fast bacilli sputum smears, and consolidation, cavity, and lower lung field lesions on chest radiographs, and higher mortality rate. Furthermore, type 2 DM, age ⩾65 years, and extensive radiographic disease were factors independently associated with an unfavorable outcome. This study confirmed that clinical manifestations and chest radiographs of PTB patients associated with type 2 DM significantly depart from the typical presentation. Type 2 DM seems to have a negative effect on treatment outcome of PTB.
Isolation of Acinetobacter from Soil and Water

An enrichment culture procedure for isolating members of the genus Acinetobacter from soil and water is described. It involves the use of vigorously aerated mineral media at relative low pH, supplemented with acetate or other suitable carbon source and nitrate as nitrogen source. With this method, virtually all samples of soil and water yielded representatives of this genus. Semiquantitative comparisons of the numbers of Acinetobacter and of all bacteria capable of aerobic growth in a complex medium revealed that Acinetobacter constituted no less than 0.001% of the total heterotrophic aerobic population in soil and water and was one of the predominant organisms in some water samples.
Gastroesophageal reflux, barrett esophagus, and esophageal cancer: scientific review.

CONTEXT Gastroesophageal reflux disease (GERD) is a risk factor for adenocarcinoma of the esophagus, a rare cancer whose incidence is increasing. Adenocarcinoma may develop from Barrett esophagus, a metaplastic change of the esophageal epithelium from squamous to intestinalized columnar mucosa, which is associated with chronic reflux. Some have recommended that patients with chronic reflux symptoms undergo upper endoscopy to assess for Barrett esophagus and to screen for cancer. OBJECTIVES To review the evidence linking GERD and Barrett esophagus to esophageal adenocarcinoma and to examine the utility of upper endoscopy as a screening tool in adenocarcinoma of the esophagus among individuals with GERD. DATA SOURCES A MEDLINE search was performed to identify all pertinent English-language reports about GERD, adenocarcinoma, and Barrett esophagus from 1968 through 2001. Reports were of randomized controlled clinical trials if available, case-control data if trials were unavailable, and cohort studies if case-control data were unavailable. Pertinent bibliographies were also reviewed to find reports not otherwise identified. STUDY SELECTION AND DATA EXTRACTION Studies were selected by using the search terms gastroesophageal reflux, adenocarcinoma, and Barrett's esophagus, with subheadings for classification, complications, drug therapy, economics, epidemiology, mortality, surgery, and prevention and control. Clinical guidelines for the care of subjects with GERD and Barrett esophagus were retrieved and abstracted. DATA SYNTHESIS Cohort studies demonstrate that symptoms of GERD occur monthly in almost 50% of US adults and weekly in almost 20%. Three large case-control studies demonstrate a positive association between reflux symptoms and risk of adenocarcinoma of the esophagus, with more prolonged and severe symptoms accentuating this risk. However, because of the low incidence of adenocarcinoma of the esophagus and the ubiquity of reflux symptoms, the risk of cancer in any given individual with reflux symptoms is low. No randomized trial data are available to demonstrate either decreased cancer incidence or increased life expectancy in subjects with GERD who undergo screening endoscopy. CONCLUSIONS Strong evidence supports the association of GERD and adenocarcinoma of the esophagus; however, the risk of cancer in any given individual with GERD is low. Barrett esophagus appears to be a common precursor lesion to this cancer. Given the low absolute risk of cancer in those with GERD and the lack of demonstrated efficacy of endoscopic screening, insufficient evidence exists to endorse routine endoscopic screening of patients with chronic GERD symptoms.
Decentralization and Small-Scale Manufacturing: The Basis of Sustainable Regions?

Abstract The corporate agenda of globalization, centralization and economies-of-scale appears both irreversible and difficult to reconcile with concepts of local sustainability. Geo-political institutions such as the World Trade Organisation and economic trading blocks such as the European Union appear to reinforce the primacy of economic forces beyond regional and national control, resulting in loss of autonomy and a sense of dependency and vulnerability. This paper explores the potential for an alternative economics grounded in decentralization and small-scale manufacturing. Two themes are highlighted: the political, cultural and market forces behind a reversal of globalization; and the radical business model that allows the concepts of sustainability to be realized and thereby alter the terms of competition. While the critique of globalization has been expounded by many observers and much has been done to delineate both the theoretical content of sustainability and its manifestation in an idealistic vision of future society, there has been little practical work on achieving the transition to sustainable regions. The key theme is the extent to which the prevailing logic of scale and lowest unit financial cost can be refuted by the new logic of quality, distinctiveness and lowest lifetime environmental cost. There are instances where the search for the application of sustainability concepts has resulted in new but successful business models. This paper provides a pragmatic, grounded account based on the automotive industry to illustrate how new business concepts, in particular Micro Factory Retailing, can form the basis of a diversified, distributed economic structure with resilience and structural flexibility, and which re-creates the region as a meaningful economic entity.
Prevalence and Predictors of Overweight and Obesity Among a Multiethnic Population of Pediatric Acute Lymphoblastic Leukemia Survivors: A Cross-Sectional Assessment

As previous studies of obesity in survivors of pediatric acute lymphoblastic leukemia (ALL) have primarily been conducted among non-Hispanic white survivors or children treated on older protocols, our objective was to describe the prevalence and correlates of overweight status among an ethnically diverse population of pediatric ALL survivors, largely treated with more contemporary therapies. We evaluated the overweight/obesity status of pediatric ALL survivors (n=406) followed in the Texas Children’s Cancer Center between 2004 and 2014. Survivors were classified as underweight, normal weight, overweight, or obese on the basis of their body mass index at their most current follow-up visit. Our results showed that Hispanic ethnicity (39% of the subjects) was associated with being overweight (adjusted odds ratio=1.88; 95% confidence interval, 1.13-3.14) or obese (adjusted odds ratio=2.84; 95% confidence interval, 1.59-5.06) at follow-up, even after adjusting for cranial radiotherapy (CRT) exposure. Body mass index z-score at diagnosis was also associated with overweight/obesity at follow-up. In addition, there was a statistically significant interaction between younger age at diagnosis and CRT, indicating that younger age at diagnosis was associated with obesity among patients who received CRT. These findings may help identify pediatric ALL patients that are at increased risk of being overweight or obese after treatment.
Steering a Course between Friends and Foes: Why Bureaucrats Interact with Interest Groups

Answers to the question of why bureaucrats interact with interest groups are important to understand how much influence these two sets of actors can exert on public decision making. Yet, to date, scholars have seldom systematically researched bureaucratic motives to grant interest groups access to policy making. As a result, we cannot properly determine how the precise nature of interactions between these two influential sets of actors in public decision making varies across cases and over time.This study is an attempt to systematically explain why and when bureaucrats interact with interest groups. It develops a new explanatory model that integrates different explanations of bureaucracy-interest group interactions. The empirical analyses are based on a true mixed-method design and include the development of a novel database of Dutch national interest groups.This books shows that giving access to interest groups is not only a matter of strategic choices that are based on a cost-benefit analysis. Rather, and in short, bureaucrats’ interactions with interest groups are a matter of deliberately picking and choosing what they need from these groups, strategically anticipating what future consequences of interactions will entail, or (un)consciously following a path of interactions carved out by past experiences and choices.
Beyond social capital: How social skills can enhance entrepreneurs' success

Executive Overview Why are some entrepreneurs so much more successful than others in starting new ventures? Previous efforts to answer this question have generally focused either on the personality traits or susceptibility to various cognitive errors of individual entrepreneurs or on such external factors as the number of competing businesses. We suggest that entrepreneurs' social skills—specific competencies that help them interact effectively with others—may also play a role in their success. A high level of social capital, built on a favorable reputation, relevant previous experience, and direct personal contacts, often assists entrepreneurs in gaining access to venture capitalists, potential customers, and others. Once such access is gained, the nature of the entrepreneurs' face-to-face interactions can strongly influence their success. Specific social skills, such as the ability to read others accurately, make favorable first impressions, adapt to a wide range of social situations, and be persuasive,.
On the Design of Reliable Control Systems

This paper presents preliminary results on the design of reliable control systems characterized by open-loop stable controllers, and capable of withstading the outage of any sensor in a predefined subset or of any actuator in a predefined subset of control loops. The approach is based on the relationship between the existence of solutions to an algebraic Riccati inequality and the existence of stabilizing, H¿-norm-bounding controllers.
Managing Individual Performance in Work Groups

This research was driven by the question, “In empowered work groups, who should be responsible for determining disciplinary actions in response to group member poor performance: the formal manager, a single group member, or the group as a whole? ” Results in a study of 231 group members representing 41 groups from four diverse organizations showed that the severity of disciplinary actions made by formal managers is equivalent to actions taken by groups through consensus decision-making. Selecting one member of the group, however, to handle a poorly performing member resulted in relatively lenient disciplinary actions. Consistent with this finding, the attitude survey results revealed that individual group members are reluctant to assume responsibility for disciplining a poorly performing group member. © 2001 John Wiley & Sons, Inc.
EUROPEAN COMMISSION OVERLOAD AND THE PATHOLOGY OF MANAGEMENT REFORM: GARBAGE CANS, RATIONALITY AND RISK AVERSION

Prior to the EU resignation crisis (the fall of the Santer Commission in 1999), it had long been argued that the European Commission was suffering from managerial ‘overload’. The incoming Prodi Commission embarked on a programme of administrative and managerial reform under the leadership of Commission Vice President, Neil Kinnock. Central to this programme were the objectives of improving managerial capacities and bolstering legitimacy in order that the Commission would be better able to discharge its expanded responsibilities. Using the model of governmental overload developed in the 1970s and 1980s, this article quantifies the impact of the reforms and argues that the overload problem has been aggravated rather than diminished. In this context, the rationale of the reform project is explored with reference to theories of public policy decision making.
[Validation of the Spanish version of the Pain Catastrophizing Scale in fibromyalgia].

BACKGROUND AND OBJECTIVE Pain catastrophization is considered an important risk factor for pain in general and, specifically, for fibromyalgia. There are no validated Spanish versions of any of the questionnaires developed to assess pain catastrophization. The aim of this study was to validate the Spanish version of the Pain Catastrophization Scale (PCS), one of the most used questionnaires to assess pain catastrophization. PATIENTS AND METHOD A prospective, observational and multicentre study was carried out in clinically stable and unstable patients with fibromyalgia. Factorial structure, convergent validity, reliability (internal consistency and test-retest) and sensitivity to change were assessed. RESULTS Two hundred and thirty patients from 12 primary care health centres were included. The Spanish version of the PCS showed the same 3-factor structure (rumination, magnification and helplessness) described in the original study. It also showed appropriate internal consistency (Cronbach alpha=0.79), test-retest reliability (intraclass correlation coefficient=0.84) and sensitivity to change (effect size<or=2). CONCLUSIONS The Spanish version of the PCS shows appropriate psychometric properties, similar to the English original scale. Therefore, PCS could be useful for clinical practice and research in Spanish patients with fibromyalgia.
Polymorphisms of DNA base‐excision repair genes APE/Ref‐1 and XRCC1 are not associated with the risk for Graves' disease

Oxidative stress has been implicated in etiopathogenesis of Graves' disease (GD). Increased lipid peroxidation and oxidative DNA damage have been found in GD patients. Oxidative DNA damage is mainly repaired by the base‐excision repair (BER) pathway. Polymorphisms in DNA‐repair genes have been associated with the increased risk of various diseases and could also be related to the etiology of GD. Therefore, we conducted a study including 197 patients with GD and age‐ and sex‐matched 303 healthy subjects to examine the role of single‐nucleotide polymorphisms of BER genes, APE/Ref‐1 (codon 148) and XRCC1 (codons 194 and 399) as a risk factor for GD. These polymorphisms were determined by quantitative real‐time PCR and melting curve analysis using LightCycler. No significant association was observed between the variant alleles of APE/Ref‐1 codon 148 [odds ratio (OR) = 0.89, 95% confidence interval (CI) = 0.69–1.17], XRCC1 codon 194 (OR = 1.24, 95% CI = 0.79–1.94), and XRCC1 codon 399 (OR = 1.12, 95% CI = 0.86–1.46) and GD. These preliminary results suggest that APE/Ref‐1 (codon 148) and XRCC1 (codons 194 and 399) polymorphisms are not significant risk factors for developing GD. Copyright © 2009 John Wiley & Sons, Ltd.
Trimethoprim-Sulfamethoxazole Induced Rhabdomyolysis

Empiric antibiotic usage is very common in clinical practice and Trimethoprim-Sulfamethoxazole (TMP-SMX) is one such antibiotic used extensively in primary care practice. Some patients experience serious adverse effects to the antibiotics that markedly increase the morbidity and the cost of medical care. We describe one such patient, a previously healthy 40-year-old Hispanic female who developed myositis and rhabdomyolysis secondary to TMP-SMX. To the best of our knowledge, this is the first report of TMP-SMX-induced rhabdomyolysis in an immunocompetent host.
The impact of teacher wages on the performance of students: evidence from PISA

Teacher profile and characteristics are not weightless because student achievements are heavily teacher dependent. In this detailed and in-depth research, the impact of teacher wages on students’ achievement was assessed in different ways by using different measuring sticks; starting salary, salary after 15 year of experience, salary per hour of net teaching time and salary ratio to GDP per capita and by using country scores, of 15 year old pupil enrolled in lower secondary school, in OECD member countries. For this propose PISA 2000, 2003 and 2006 survey data of students’ scores were used. The independent variables “wages” was regressed on the dependent variable “students total mean country score”. The results of these analyses gave an indication that there is a positive impact of teacher wages on students’ performance.