Miracle-dz/UniFAR-FTUs huggingface dataset:
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.

BACKGROUND Saethre-Chotzen syndrome is a craniosynostosis syndrome further characterized by distinctive facial and limb abnormalities. It shows complete penetrance and variable expressivity and has been linked to the TWIST gene on chromosome 7p21; more than 80 different intragenic mutations and, recently, large deletions have been detected in Saethre-Chotzen patients. The aim of this study was to genetically and phenotypically characterize patients with a clinical diagnosis of Saethre-Chotzen syndrome. METHODS Patients with a clinical diagnosis as well as those with a genetic diagnosis of Saethre-Chotzen syndrome (n = 34) were included in the study. RESULTS The study showed that the important features of Saethre-Chotzen syndrome are brachycephaly (occurring in 74 percent of patients), a broad, depressed nasal bridge (65 percent), a high forehead (56 percent), ptosis (53 percent), and prominent auricular crura (56 percent). Furthermore, using different molecular techniques, pathogenic mutations in the TWIST gene were identified in 71 percent of patients. CONCLUSIONS Patients with deletions of the TWIST gene did not differ from those with intragenic TWIST mutations in frequency or severity of craniofacial abnormalities. However, they did distinguish themselves by the presence of many additional anomalies and diseases and--most importantly--the high frequency of mental retardation, which was borderline significant. The authors conclude that when using stringent inclusion criteria for studies of Saethre-Chotzen syndrome, patients who have a pathogenic mutation of the TWIST gene should be excluded.
Problems Using Aggregate Data to Infer Individual Behavior: Evidence from Law, Finance, and Ownership Concentration

Cross-country comparisons in finance use two distinct approaches. Some analyze country averages; others analyze the underlying firm-level data. The influential finding of an inverse relation between the law and ownership concentration is shown to be spurious because country averages have produced misleading results. When data from existing studies is used on a firm basis, the relation between the Anti-Director Rights Index and ownership concentration changes sign, while those involving legal origins and the Anti-Self-Dealing Index lose all significance. The results change because country averages do not control for firm-specific influences, such as firm size, and because firms from tiny countries are over weighted. The use of country averages instead of the underlying firm data is unnecessary and requires implausible assumptions. Other individual and firm-level inferences will also be unreliable when the supporting tests are based on country aggregation.
Occupational Exposure to Solvents and Cognitive Performance in the GAZEL Cohort: Preliminary Results

Background: The impact of occupational exposure to solvents on cognitive ageing remains unclear. We examined whether long-term occupational exposure is associated with poor cognitive performance in late midlife. Methods: Participants in the GAZEL cohort, set up in 1989, are employees of the French national electricity and gas company. Data on the working environment were used to create measures of cumulative exposures to solvents using a job-exposure matrix. In 2002–2004, cognitive performance was assessed using the Digit Symbol Substitution Test (DSST) and the Mini Mental State Examination in 5,242 participants (aged 55–65 years). Results: In cross-sectional analysis using multiple logistic regression, there was a greater risk of poor cognitive performance (DSST score <25th percentile) among those with high exposure to benzene (OR = 1.58; 95% CI 1.31–1.90) and the grouped categories of chlorinated (OR = 1.39; 95% CI 1.3–2.3), aromatic (OR = 1.76; 95% CI 1.08–2.87), and petroleum solvents (OR = 1.50; 95% CI 1.23–1.81). Conclusions: These results suggest that occupational exposures to solvents may be associated later in life with cognitive impairment, even after taking into account the effects of education, employment grade, and numerous health factors.
Validation and development of fluorescence two‐dimensional differential gel electrophoresis proteomics technology

Fluorescence two‐dimensional differential gel electrophoresis (2‐D DIGE * Difference Gel Electrophoresis (DIGE) technology is covered by US patent number 6043025 and foreign equivalents and patents pending. ©Amersham Pharmacia Biotech UK Limited, 2000 – All rights reserved. Amersham Pharmacia Biotech UK Limited, Amersham Place, Little Chalfont, Buckinghamshire, England, U.K. HP7 9NA. Amersham Pharmacia Biotech AB, SE‐751 84 Uppsala Sweden. Amersham Pharmacia Biotech Inc, 800 Centennial Avenue, PO Box 1327, Piscataway NJ 08855, USA. Amersham Pharmacia Biotech Europe GmbH , Munzinger Strasse 9, D‐791 11 Freiburg. Cy and ImageMaster are trademarks of Amersham Pharmacia Biotech Limited or its subsidiaries. Amersham is a trademark of Nycomed Amersham plc. Pharmacia is a trademark of Pharmacia Upjohn Inc. All goods and services are sold subject to terms and conditions of sale of the company within the Amersham Pharmacia Biotech group which supplies them. A copy of these terms and conditions are available on request. The inventors of the technology are Jon Minden and Alan Waggoner from the Carnegie Melon University. ) is a new development in protein detection for two‐dimensional gels. Using mouse liver homogenates (control and paracetamol (N‐acetyl‐p‐aminophenol, APAP)‐treated), we have determined the quantitative variation in the 2‐D DIGE process and established statistically valid thresholds for assigning quantitative changes between samples. Thresholds were dependent on normalised spot volume, ranged from approximately 1.2 fold for large volume spots to 3.5 fold for small volume spots and were not markedly affected by the particular cyanine dye combination or by multiple operators carrying out the dye labelling reaction. To minimise the thresholds, substantial user editing was required when using ImageMaster™ 2D‐Elite software. The difference thresholds were applied to the test system and quantitative protein differences were determined using replicate gels of pool samples and single gels from multiple individual animals (control vs treated in each gel). Throughout, the differences revealed with a particular cyanine dye combination were mirrored almost without exception when the dye combination was reversed. Both pool and individual sample analyses provided unique data to the study. The inter‐animal response variability in inbred mice was approximately nine times that contributed by the 2‐D DIGE process. A number of the most frequently observed protein changes resulting from APAP‐treatment were identified by mass spectrometry. Several of these can be rationalised based on available data on the mechanism of APAP hepatotoxicity but others cannot, indicating that proteomics can provide further insights into the biochemical basis of APAP toxicity.
Fair Trade and the Double Movement: The Promise and Contradictions of Improving Labor Standards in the Global South via Market Mechanisms

I examine Fair Trade (FT) as a social movement that emerges as a regulative force in response to the rise of neoliberalism. I apply Polanyi’s (1944, 1957) classic concepts of embeddedness and the double movement to understand the conflict that arises within a coherently motivated social movement. Using interview and participant observation data along with content analysis of FT organization mission statements, this research examines the role of conflict within the FT movement over how best to improve the well-being of producers in the global South. I discuss the different, conflicting ways in which FT participants think about improving labor conditions in the global South and the inherent conflict in using market mechanisms to counter market forces. I conclude that while participants share the values of human rights, equality, and environmentalism, realizing these goals through concrete market activities reveals the tension between the benefits of liberalizing and the benefits of regulating the production and sale of FT goods that may impede the continued growth of the movement. *This research was supported by the Center for Organization Research (COR) at the University of California, Irvine. The author thanks Nina Bandelj as well as Pete Norlander and Chris Tilly for their helpful comments on earlier drafts.
Residual leukaemia after bone marrow transplant in children with acute lymphoblastic leukaemia after first haematological relapse or with poor initial presenting features

Summary. Relapse is the major obstacle to cure for children with acute lymphoblastic leukaemia (ALL) after allogeneic bone marrow transplant (BMT). Development of salvage therapy for post‐transplant relapse could be expedited by understanding the post‐transplant behaviour of microscopically undetectable leukaemia and the ability to predict impending relapse. We have used a quantitative polymerase chain reaction method (sensitivity of 5·0 × 10−6) to measure residual leukaemia before the conditioning regimen, and at five time‐points after transplantation. In total, 18 patients with ALL transplanted in first or second remission were studied for 1 year: For the first year post BMT, 12 remained in remission, four had haematological relapses, one had a cutaneous relapse, and one died of severe graft‐versus‐host disease. The post‐engraftment levels of the leukaemia‐specific immunoglobulin heavy (IgH) chain gene rearrangement for patients with haematological relapses were significantly different from those who remained in remission. The levels for the patients who remained in remission decreased with time, although there were occasional increases consistent with the known standard deviation of the measurement assay. In contrast, all clinical relapses were preceded by a rapid increase in levels. Both the rate of this increase and its timing were variable. These results suggest that residual leukaemia measurements can be used to direct post‐transplant interventions and measure their effects.
Paraoxonase 1 activity in multiple sclerosis patients during mitoxantrone therapy

It has been implicated in many studies that reactive oxygen species play a role in the development of demyelination in multiple sclerosis (MS). Paraoxonase 1 (PON1) is an antioxidant enzyme that protects cell membranes against oxidative modification. Mitoxantrone is a cytotoxic drug approved for the treatment of MS with adverse effects associated potentially with an increased level of oxidative stress. The aim of this study was to assess the influence of mitoxantrone therapy on PON1 activity in patients with MS.
PCR Method To Identify Salmonella enterica Serovars Typhi, Paratyphi A, and Paratyphi B among Salmonella Isolates from the Blood of Patients with Clinical Enteric Fever

ABSTRACT PCR methodology was developed to identify Salmonella enterica serovars Typhi, Paratyphi A, and Paratyphi B. One multiplex PCR identifies serogroup D, A, and B and Vi-positive strains; another confirms flagellar antigen “d,” “a,” or “b. ” Blinded testing of 664 Malian and Chilean Salmonella blood isolates demonstrated 100% sensitivity and specificity.
Evolution of posterior lateral line development in fish and amphibians

Summary The lateral line is a sensory system present in fish and amphibians. It is composed of discrete sense organs, the neuromasts, arranged on the head and body in species‐specific patterns. The neuromasts are deposited by migrating primordia that originate from pre‐ and postotic placodes and follow defined pathways on the head and body. Here we examine the formation of the posterior lateral line (PLL), which extends rostrocaudally on the trunk and tail. In amphibians, the PLL neuromasts are deposited as a single wave from the head to the tip of the tail. In the zebrafish, however, the first wave of neuromast deposition forms but a rudimentary PLL, and several additional waves are needed to form the adult pattern. We show that the amphibian mode is also present in the sturgeon and therefore probably represents the primitive mode, whereas the zebrafish mode is highly conserved in several teleost species. A third mode is found in a subgroup of teleosts, the protacanthopterygians, and may represent a synapomorphy of this group. Altogether, the mode of formation of the embryonic PLL appears to have undergone remarkably few changes during the long history of anamniote evolution, even though large differences can be observed in the lateral line morphology of adult fishes.
Economic Theories of Social Order and the Origins of the Euro

Abstract This paper explores how the Euro project became a reality as a result of conflicting political and economic forces. The idea was born in the interwar period in France, among a circle of Traditionalist elites and conservative intellectuals, politicians, and businessmen. They dreamed of restoring an allegedly genuine social order that would guarantee social stability and the rule of reason against what they considered to be the abomination of the American lawless society. Since then, the Euro project has never ceased to reflect such conservative and inherently anti-Keynesian impulses, which are now perfectly expressed in the Stability and Growth Pact. But if the design of European integration was inspired by a desire for an “ordered society,” it resulted in generalized instability, as we witness today. This paradox is at the root of the inability of European elites to understand the causes of the euro’s crisis and of their stubborn reliance on the same deadly provisions that contradict their intentions of strengthening Europe, in what appears increasingly to be a collective denial of reality.
Analysis of Donor- and Isolation-Related Variables from Non-Heart-Beating Donors (NHBDs) Using the Kyoto Islet Isolation Method

Recently, we demonstrated that islet transplantation from non-heart-beating donors (NHBDs) using the Kyoto islet isolation method (KIIM) successfully reversed patients' diabetes state. In this study, we evaluated the effects of donor- and isolation-related variables on islet isolation results from NHBDs by KIIM. Twenty-one islet preparations from the pancreata of NHBDs were isolated by KIIM. Islet preparations that met transplantation criteria and achieved improved patient diabetes control after transplantation were defined as successful isolations. Potential risk factors deemed to affect islet isolation results, such as age, gender, body mass index, hospital stay, donors' blood biochemical tests, a modified pancreata procurement method, and isolation and purification procedure-related variables, were analyzed. Seventeen out of 21 islet isolations (81%) were successful isolations. Postpurification islet yield was 447,639 ± 39,902 islet equivalents (IE) in the successful isolation group and 108,007 ± 31,532 IE in the failure group. Donor age was significantly younger in the success group (41.9 ± 4.0 years old in the success group vs. 57.5 ± 2.2 years old in the failure group, p = 0.003). Chronic pancreatitis significantly decreased islet yields (p = 0.006). Phase I time was significantly shorter (p = 0.010) and undigested tissue volume was significantly smaller (p = 0.020) in the success group. Purity was in positive correlation to postpurification islet yield, while donor age was in reverse correlation to postpurification islet yield. KIIM enables us to perform islet transplantation from NHBDs; however, the decision to use pancreata from older donors or those with chronic pancreatitis requires careful consideration.
A Randomized Controlled Trial of Family Finding

Background: Youth who have experienced foster care are at risk of negative outcomes in adulthood. The family finding model aims to promote more positive outcomes by finding and engaging relatives of children in foster care in order to provide options for legal and emotional permanency. Objectives: The present study tested whether family finding, as implemented in North Carolina from 2008 through 2011, improved child welfare outcomes for youth at risk of emancipating foster care without permanency. Research Design: A randomized controlled trial evaluation was carried out in nine counties in North Carolina. All children eligible for intervention services between 2008 and 2011 underwent random assignment. Effects were tested with an intent-to-treat design. Outcome data were obtained for all subjects from child welfare administrative data. Additional outcome data for a subset of older youth came from in-person interviews. Subjects: Subjects included 568 children who were in foster care, were 10–17 years old (at time of referral), had no identified permanent placement resource, and had no plan for reunification. Measures: The confirmatory outcome was moves to more family-like placements, whether through a step-down in foster care placement or discharge from foster care to legal permanency. Results: No impact on the confirmatory outcome was observed. Findings regarding exploratory impacts are also described; these must be interpreted with caution, given the large number of outcomes compared. Conclusions: The evaluation failed to find evidence that family finding improves the outcomes of older youth at risk of emancipation from foster care.
Labor Force Transitions at Older Ages: Burnout, Recovery, and Reverse Retirement

Partial and reverse retirement are two key behaviors characterizing labor force dynamics for individuals at older ages, with half working part-time and over a third leaving and later re-entering the labor force. The high rate of exit and re-entry is especially surprising given the declining wage profile at older ages and opportunities for re-entry in the future being uncertain. In this paper we study the effects of wage and health transition processes as well as the role of accrues work-related strain on the labor force participation on older males. We find that a model incorporating a work burnout-recovery process can account for such reverse retirement behavior that cannot be generated by health and wealth shocks alone, suggesting re-entry patterns result in large part from planned behavior. We first present descriptive statistics of the frequency and timing of re-entry and characteristics of those who re-enter using Health and Retirement Study (HRS) panel data. We then develop and estimate a dynamic model of retirement that captures the occurrence and timing of re-entry decisions observed in the data-as well as the transition to part-time work-while incorporating uncertainty in earnings, health, and stress accumulation. The burnout-recovery process allows us to account for about 40 percent of re-entry, and one-quarter of the shifts to part-time work with age. We also consider the lower exit and re-entry rates after 2008, and attribute this to high option values of work in an environment where future re-entry is less certain. Consistent with our burnout-recovery model, we see that respondents are more likely to report high levels of job stress as they continue to work when they would have otherwise stopped working, recovered, and re-entered. This offers us some information about the relative option value of work versus the burnout-recovery process.
The Role of Tyrosine Residues in the Extracellular Domain of the 5-Hydroxytryptamine3 Receptor*

Aromatic residues play an important role in the ligand-binding domain of Cys loop receptors. Here we examine the role of the 11 tyrosines in this domain of the 5-HT3 receptor in ligand binding and receptor function by substituting them for alanine, for serine, and, for some residues, also for phenylalanine. The mutant receptors were expressed in HEK293 cells and Xenopus oocytes and examined using radioligand binding, Ca2+ imaging, electrophysiology, and immunochemistry. The data suggest that Tyr50 and Tyr91 are critical for receptor assembly and/or structure, Tyr141 is important for antagonist binding and/or the structure of the binding pocket, Tyr143 plays a critical role in receptor gating and/or agonist binding, and Tyr153 and Tyr234 are involved in ligand binding and/or receptor gating. Tyr73, Tyr88, Tyr94, Tyr167, and Tyr240 do not appear to play major roles either in the structure of the extracellular domain or in ligand binding. The data support the location of these residues on a model of 5-HT docked into the ligand-binding domain and also provide evidence for the structural similarity of the extracellular domain to AChBP and the homologous regions of other Cys loop ligand-gated ion channels.
Genetic and environmental influences on coping styles: a twin study.

OBJECTIVE Coping styles are generally considered to be environmentally driven, primarily by family influences. However, because personality traits are commonly influenced by genetic effects, we hypothesized that heredity is also important for coping. METHODS We tested this hypothesis by assessing 19 coping styles, as well as four secondary coping factors, by questionnaire in 212 pairs of monozygotic and dizygotic twins. We then examined heredity by structural equation modeling. RESULTS All coping styles showed evidence of genetic influences. The coping styles shared one common genetic factor. In addition, each coping style was also influenced by other separate genetic factors. Shared environment had no significant influence on coping styles. Three of 19 more specific coping styles showed shared environmental effects as well as genetic influences, 14 were solely under genetic influences, and two showed only shared environment effects. CONCLUSIONS We suggest that hereditary effects on certain coping style preferences cannot be explained solely by genetic influences on major personality traits and temperament. An analysis of the relationships between coping and personality in twin subjects may elucidate the distinction between genetic and environmental effects.
Tryptase increases proliferative activity of human conjunctival fibroblasts through protease-activated receptor-2.

PURPOSE Tryptase that is released by mast cell degranulation has recently been thought to play a key role in wound healing in allergic bronchitis. Conjunctival fibroblasts secrete mediators and extracellular matrices that could exacerbate inflammation and papillary formation in allergic conjunctivitis. This study was conducted to investigate the effect of tryptase on the proliferation of conjunctival fibroblasts and studied whether this effect was mediated by protease-activated receptor (PAR)-2. METHODS Conjunctival fibroblasts were cultured with or without tryptase (0.1 ng/mL to 1.0 microg/mL), and the proliferation rate was assessed after 48 hours. The effects of tryptase inhibitors (leupeptin, benzamidine) and a PAR-2 agonist (SLIGKV) were examined. The existence of PAR-2 mRNA and protein in conjunctival fibroblasts was examined by RT-PCR and Western blot analysis, respectively. The existence of PAR-2 in cultured conjunctival fibroblasts and conjunctival papillae from patients with vernal keratoconjunctivitis, as well as conjunctival tissue from normal subjects was examined by immunohistochemistry. RESULTS Conjunctival fibroblast proliferation was upregulated by tryptase in a dose-dependent manner (P < 0.001). Leupeptin and benzamidine inhibited tryptase-induced fibroblast proliferation (P < 0.05), and SLIGKV mimicked tryptase's effect. PAR-2 mRNA and protein were detected in cultured conjunctival fibroblasts using RT-PCR and Western blot analysis. PAR-2 immunoreactivity in both the cultured conjunctival fibroblasts and in stromal cells in excised conjunctival tissues was observed. CONCLUSIONS Tryptase increased conjunctival fibroblast proliferation and this response appeared to be mediated by PAR-2. Mast cells are the most likely source of tryptase in the conjunctiva and may play an important role in chronic exacerbations with conjunctival papillary formation in allergic conjunctivitis.