Miracle-dz/UniFAR-FTUs huggingface dataset:
Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent‐1 segregants

A subtle balanced translocation involving the terminal regions of 1q and 3p was identified in a large family by high‐resolution karyotype analysis and confirmed by fluorescence in situ hybridization (FISH) analysis. In this family, segregation of a balanced t(1:3)(q42.3;p25) chromosome translocation led to two types of viable unbalanced complements. The proband inherited the derivative chromosome 3, resulting in partial trisomy of 1q and partial monosomy of 3p. A paternal uncle and cousin had the reciprocal rearrangement with a derivative of chromosome 1, resulting in partial monosomy for 1q and partial trisomy for 3p. While profound mental and physical retardation and congenital heart defects were characteristics for both rearrangements, facial dysmorphism was quite distinct for each imbalance. Individuals who had the derivative chromosome 3 had a long face, wide eyebrows, small palpebral fissures, hypertelorism, prominent glabella, a large tip of the nose, long philtrum with thin upper lip, and low set‐ears. In contrast, family members with the derivative of chromosome 1 had a tall forehead with bifrontal narrowing, full and large cheeks, and large simple ears. Since the translocated segments are small and approximately equal in size in this family, it is not surprising that viability was seen in individuals with both types of adjacent‐1 segregation. In this kindred, the ratio of normal to abnormal individuals born to balanced carriers is believed to be about 1:1.5. This suggests that the recurrence risk for carriers is 50%. © 2003 Wiley‐Liss, Inc.
Consumer awareness of fast-food calorie information in New York City after implementation of a menu labeling regulation.

OBJECTIVES We assessed consumer awareness of menu calorie information at fast-food chains after the introduction of New York City's health code regulation requiring these chains to display food-item calories on menus and menu boards. METHODS At 45 restaurants representing the 15 largest fast-food chains in the city, we conducted cross-sectional surveys 3 months before and 3 months after enforcement began. At both time points, customers were asked if they had seen calorie information and, if so, whether it had affected their purchase. Data were weighted to the number of city locations for each chain. RESULTS We collected 1188 surveys pre-enforcement and 1229 surveys postenforcement. Before enforcement, 25% of customers reported seeing calorie information; postenforcement, this figure rose to 64% (P < .001; 38% and 72%, weighted). Among customers who saw calorie information postenforcement, 27% said they used the information, which represents a 2-fold increase in the percentage of customers making calorie-informed choices (10% vs 20%, weighted; P < .001). CONCLUSIONS Posting calorie information on menu boards increases the number of people who see and use this information. Since enforcement of New York's calorie labeling regulation began, approximately 1 million New York adults have seen calorie information each day.
The Role of Error-Prone Alternative Non-Homologous End-Joining in Genomic Instability in Cancer

To maintain the integrity of the genome, cells have evolved a complex set of pathways that function in response to DNA damage. Components of this response include (i) cell cycle checkpoints that prevent damaged DNA from being replicated, (ii) induction of programmed cell death to prevent the transmission of potentially mutagenic genetic changes and (iii) DNA repair pathways that remove various types of DNA lesions such as single base lesions, single strand breaks (SSB)s or double strand breaks (DSB)s. DSBs are considered the most lethal form of DNA damage because, unlike almost any other types of DNA damage that have an intact undamaged template strand to guide the repair, the integrity of both strands of the duplex is lost (Khanna and Jackson, 2001). DSBs can be induced by environmental factors such as ionizing radiation, ultraviolet light, therapeutic treatment but also occur as a consequence of specific physiological processes such as DNA replication, the V(D)J recombination in B and T-lymphocytes or the immunoglobulin class switch recombination (CSR) within immunoglobulin variable domains in B-lymphocytes occurring during the development and maturation of the immune system (Ferguson and Alt, 2001, Revy et al., 2005). In order to maintain the integrity of the DNA information, cells recruit stringent DSB repair machinery to ensure the efficient repair of various types of DNA damage. Thus, failure to properly repair the DSBs may cause chromosomal abnormalities, which in turn, may lead to genomic instability and predispose the cells to malignant transformation. Moreover, the importance of DNA repair in protecting against DSB-induced genomic instability is suggested by the increased incidence of cancer in autosomal recessive DNA repair deficient human syndromes, such as BRCA1/2 deficient breast cancers (Futreal et al., 1994). Thus, since genomic instability is a common characteristic of both inherited and sporadic forms of cancer cells, it is likely that abnormalities in DNA repair contribute to the development and progression of sporadic cancers (Khanna and Jackson, 2001). DSBs can be repaired by two major pathways, homology–directed repair (HR) and nonhomologous end-joining (NHEJ) (Helleday et al., 2007). HR is active during the late S and G2 phases of the cell cycle and uses the intact sister chromatid as the template for repair
The Case for Utopia: History and the Possible Meanings of Brexit a Hundred Years On

Abstract How likely are utopian futures of the kind that Jeremy Corbyn has recently envisioned for the future of post-Brexit Britain? Such utopian scheming to restore the welfare state at the cost of the state gibes with the forecast of austerity from the Chancellor’s office, and pronouncements from canny observers that a post-EU Britain will need cash to support even its current programs, and therefore be forced to come to terms with the demands of banks and corporations. Corbyn’s utopianism is ridiculous unless we take into account long-term forces like the rebellion against expert rule and advocacy of democratic accountability by participatory movements. A deeper history of state, democracy, and expert rule in Brexit can highlight the underlying tensions and point to some sources of possible outcomes.
Pulmonary sequelae in convalescent patients after severe acute respiratory syndrome: evaluation with thin-section CT.

PURPOSE To prospectively evaluate lung parenchyma on paired inspiration-expiration thin-section computed tomographic (CT) scans in patients recovering from severe acute respiratory syndrome (SARS). MATERIALS AND METHODS After the institutional review board approved the study and written consent was obtained from patients, 40 patients (25 female, 15 male; mean age, 42.8 years +/- 12.3 [standard deviation]) underwent thin-section CT at 51.8 days +/- 20.2 after onset of SARS symptoms. Twenty of the 40 patients underwent follow-up thin-section CT at 140.7 days +/- 26.7 after symptom onset. Lung findings were scored according to extent and then grouped in three categories (ground-glass opacity, interstitial opacity, and air trapping) for analysis. Mean CT scores for each finding in the various patient subgroups were compared by using the Mann-Whitney test. Clinical parameters and scores were evaluated for correlation by using Spearman rank correlation analysis. Mean scores for each finding were compared between the two serial examinations by using the Wilcoxon matched-pairs signed rank test. RESULTS Air trapping, ground-glass opacity, and reticulation were found in 37 (92%), 36 (90%), and 28 (70%) of 40 patients, respectively, at initial thin-section CT examination and in 16 (80%), 14 (70%), and 10 (50%) of 20 patients, respectively, at follow-up examination. Scans from patients with adult respiratory distress syndrome (ARDS) had a significantly higher score for ground-glass opacity than did those from patients without ARDS (P = .009). A comparison of scores for the serial thin-section CT examinations indicated a significant reduction in the extent of ground-glass opacity (P < .001) and interstitial opacity (P < .001) but not in that of air trapping (P = .38) at follow-up examination. At initial thin-section CT, scores for ground-glass opacity, interstitial opacity, and air trapping correlated with age; those for ground-glass opacity and air trapping, with peak C-reactive protein level. At the second examination, scores for ground-glass opacity and interstitial opacity correlated with peak lactate dehydrogenase level; that for air trapping, with age and peak C-reactive protein level. CONCLUSION Thin-section CT scores correlated with clinical and laboratory parameters in patients after SARS. Although ground-glass opacity and interstitial opacity resolve over time, air trapping persists.
Nutrition‐Based Incentives in Dairy Contract Farming in Northern Senegal

Abstract In developing countries contract farming faces numerous challenges that many times lead to its failure. Innovations that help overcome the difficulties of contracting with a large pool of small farmers in such settings can enhance the viability of such schemes. We use a randomized control trial design combined with high frequency data to investigate the impact of adding a nutrition‐based incentive in contracts between a Senegalese dairy processing factory and its semi‐nomadic milk suppliers. The incentive rewarded suppliers for consistent milk deliveries with daily delivery of a micro‐nutrient fortified yogurt for each young child in corresponding households. Findings show large and significant impacts on the frequency and amount of milk delivered, albeit limited to the dry season. We also find larger impacts on milk deliveries when contracts are managed by women.
Self‐reported health and use of health services: a comparison of diabetic and nondiabetic persons from a national sample

Abstract: Population‐based epidemiological and health service utilisation information on diabetes and other noncommunicable diseases is still scarce in Australia. Such information is needed by health economists, policy makers and service providers. Data from the 1989–90 National Health Survey conducted by the Australian Bureau of Statistics have been used to obtain estimates of the prevalence of cardiovascular morbidity, lifestyle factors, use of hospital and medical services, and self‐assessed health and happiness for Australian persons with diabetes. Prevalences are compared with those for persons without diabetes. Those with diabetes had two to three times the prevalence of most cardiovascular conditions, similar levels of exercise (except for diabetic women over 40 years of age who exercised less than their nondiabetic counterparts), lower levels of alcohol consumption (except for younger men, who had a similar frequency of heavy drinking as their nondiabetic peers), similar levels of smoking, a higher prevalence of overweight, and significantly greater frequency of hospital admissions, use of outpatient services and general practitioner consultations. About half of the people with diabetes assessed their health as good or excellent but 90 per cent stated that they were happy or very happy. No differences between diabetic people living in capital cities and other areas were found. These results have implications for education and life‐style behaviour modification programs for people with diabetes. Research into the prevention and more effective management of diabetes and its complications is required in order to contain the escalating health care burden associated with diabetes in Australia.
Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final‐exon SATB2 frameshift mutation

Haploinsufficiency of SATB2 causes cleft palate, intellectual disability with deficient speech, facial and dental abnormalities, and other variable features known collectively as SATB2‐associated syndrome. This phenotype was accompanied by osteoporosis, fractures, and tibial bowing in two previously reported adult patients; each possessed SATB2 mutations either predicted or demonstrated to escape nonsense‐mediated decay, suggesting that the additional bone defects result from a dominant negative effect and/or age‐dependent penetrance. These hypotheses remain to be confirmed, as do the specific downstream defects causing bone abnormalities. We report a SATB2 mutation (c.2018dupA; p.(H673fs)) in a 15‐year‐old patient whose SATB2‐associated syndrome phenotype is accompanied by osteoporosis, fractures, progressive tibial bowing, and scoliosis. As this homeodomain‐disrupting and predicted truncating mutation resides within the final exon of SATB2, escape from nonsense‐mediated decay is likely. Thus, we provide further evidence of bone phenotypes beyond those typically associated with SATB2‐associated syndrome in individuals with potential dominant‐negative SATB2 alleles, as well as evidence for age‐dependence of bone features. Elevations in alkaline phosphatase, urinary N‐telopeptide/creatinine ratio, and osteocalcin in the patient indicate increased bone turnover. We propose surveillance and treatment with osteoclast inhibitors to prevent fractures and to slow progressive bone deformities. © 2016 Wiley Periodicals, Inc.
Association of transforming growth factor‐β1 T869C gene polymorphism with diabetic nephropathy risk

A possible association between the transforming growth factor‐β1 (TGF‐β1) T869C gene polymorphism and the risk of developing diabetic nephropathy (DN) remains unclear. This investigation was performed to assess if an association between the TGF‐β1 T869C gene polymorphism and DN risk exists by using meta‐analysis to combine comparable studies, thereby increasing sample size and statistical significance, and to identify patterns in various studies.
Effect of drying on the biological activities of a red microalgal polysaccharide

The red microalga Porphyridium sp. produces a polysaccharide exhibiting a variety of biological activities with potential for medical and cosmetic uses. For this reason, it is important that the drying process, which is the end point of production, should not destroy the natural characteristics of the material. The objective of this study was to evaluate the effect of drying at temperatures ranging from 40 to 140°C on the bioactivities of the polysaccharide. Drying the polysaccharide at temperatures above 90°C caused a significant decline in its biological activities (antiviral and anti‐cell proliferation) and reduced elasticity, viscosity, and intrinsic viscosity relative to lyophilized polysaccharide and to the starting product. The relationship between molecular weight and intrinsic viscosity indicated that the polysaccharide takes a rigid coil conformation, which stiffens as a result of drying. FTIR analysis revealed that drying caused both significant conformational alterations in the polymer chains and changes in the interaction between the polysaccharide and the glycoprotein to which it is noncovalently associated. Differential scanning calorimetry analysis of the water adsorbed on the charged groups of the polysaccharide showed that drying at higher temperatures increased the bound water content due to dissociation of the polymer chains. Thus, it is recommended that the polysaccharide be dried in a two‐step process in which free water is removed by convection and bound freezing water is removed by lyphophilization. Biotechnol. Bioeng. 2008;99: 411–420. © 2007 Wiley Periodicals, Inc.
Evaluation of a Rapid Device for Serological Diagnosis of Leishmania infantum Infection in Dogs as an Alternative to Immunofluorescence Assay and Western Blotting

ABSTRACT In this study, we compared a rapid immunochromatographic test (Speed Leish K; BVT Groupe Virbac, La Seyne sur Mer, France) with an indirect immunofluorescence assay (IFAT) and Western blotting (WB) for the detection of Leishmania infantum antibodies in dogs. A total of 250 serum samples were collected from 125 L. infantum-positive and 125 L. infantum-negative dogs. Among the positive samples, 81 were strongly positive at low IFAT dilutions, while 44 were low-reactivity sera (IFAT titers, 1:40 to 1:80). The sensitivity and specificity of the Speed Leish K were 96.3% and 100%, respectively, compared with those of the IFAT. When IFAT low-reactivity sera (titers, 1:40 or 1:80) were tested with the Speed Leish K, using WB results as a reference, the sensitivities were 93.75% for sera with a 1:80 titer and 73.33% for sera with a 1:40 titer, and the specificity was 100%. The Speed Leish K is easy to use and performs well, so it can be considered a quick and reliable tool for the diagnosis of L. infantum infection in dogs.
Correlation of Fatigue During the Acute Stage of Stroke with Serum Uric Acid and Glucose Levels, Depression, and Disability

Background: To clarify the correlation of fatigue during the acute stage of stroke with serum uric acid (UA) and glucose levels, depression, and disability. Design: Cross-sectional descriptive study. Methods: A stroke group of 312 patients and a reference group of 312 healthy controls were recruited during the same period. Fatigue was assessed using the Fatigue Severity Scale (FSS). Patients with an FSS score ≥4 points were defined as having fatigue. Depression was assessed using the Self-rating Depression Scale (SDS). Patients with an SDS score ≥50 points were defined as having depression. Stroke severity and the level of disability were assessed with the National Institutes of Health Stroke Scale (NIHSS) and the Modified Rankin Scale (MRS). Results: The prevalence of fatigue in the stroke group was higher than that in the reference group (p < 0.001). Within the stroke group, low serum UA level, high MRS score, high serum glucose level, and high SDS score were associated with increased FSS score. The MRS score was associated most consistently with the FSS score (B = 0.411, 95% CI: 0.297, 0.525). Age, gender, chronic disease history, and NIHSS score were not associated with FSS score. Conclusions: Serum UA and glucose levels, depression, and disability are closely related to fatigue during the acute stage of ischaemic stroke.
Organizational adoption of sustainable manufacturing practices in India: integrating institutional theory and corporate environmental responsibility

ABSTRACT Organizations are increasingly engaging in socially and environmentally sustainable initiatives. This paper focuses on the institutional isomorphism mechanisms to analyse the organizational adoption of sustainable manufacturing practices like eco-design, source reduction, and environmental management practices. This paper empirically examines the role of institutional influence in the organizational adoption of sustainable manufacturing practices among firms in India. The results of this study confirm the significance of the three institutional isomorphism mechanisms in influencing sustainable responses, but not all mechanisms influence the organizational response equally. In particular, the results show a strong influence of self-regulatory normative isomorphism on the implementation.
The Mediating Role of Autonomy, Psychological Empowerment, and Self-Realization in Explaining the Relationship between School-Based Factors and Postschool Outcomes.

Secondary data analysis using the National Longitudinal Transition Study-2 dataset was conducted to examine the degree to which autonomy, psychological empowerment and selfrealization (three of four essential characteristics of self-determination) play a mediating role in the relationship between school-based factors and postschool outcomes. The results suggest that autonomy, psychological empowerment and self-realization play a large and significant role in mediating the relationship between school-based factors and postschool outcomes. With over 50% of the indirect effects (i.e., the aggregated effects of the school-based factors on the outcome constructs through the self-determination constructs) significant, this provides support for the critical role of self-determination in secondary transition services and supports. Implications for research and practice are discussed.
DNA sequencing via electron tunneling

Fast and low-cost DNA sequencing methods would revolutionize medicine: a person could have his/her full genome sequenced so that drugs could be tailored to his/her specific illnesses; doctors could know in advance patients' likelihood to develop a given ailment; cures to major diseases could be found faster [1]. However, this goal of “personalized medicine” is hampered today by the high cost and slow speed of DNA sequencing methods. We will discuss the sequencing protocol we suggest which requires the measurement of the distributions of transverse currents during the translocation of single-stranded DNA into nanopores [2-6]. We will support our conclusions with a combination of molecular dynamics simulations coupled to quantum mechanical calculations of electrical current in experimentally realizable systems [2-6]. We will also discuss recent experiments that support these theoretical predictions. In addition, we will show how this relatively unexplored area of research at the interface between solids, liquids, and biomolecules at the nanometer length scale is a fertile ground to study quantum phenomena that have a classical counterpart, such as ionic quasi-particles and ionic “quantized” conductance [7,8].
Dengue 3 virus distribution in the mosquito Aedes aegyptl: an immunocytochemical study

Abstract. The dissemination of dengue (DEN) 3 virus in parenterally infected female Aedes aegypti mosquitoes was studied imrnunocytochemically. Antigen was first detected in fat body cells near the thoracic site of virus inoculation. The intussuscepted foregut, salivary glands and nervous tissue were the first major tissues infected. Nervous tissue appeared to be the primary site of amplification. Muscles, tracheae, Malphigian tubules and the posterior midgut did not become infected. The only part of the reproductive system to be infected was the calyx (71% of specimens 16–22 days post‐infection) consistent with low rates of vertical transmission. After 7 days post‐inoculation the salivary glands of 100% of the specimens examined were infected. Virus dissemination was slow and the most common sequence of infection following intrathoracic inoculation was as follows: thoracic fat body, intussuscepted foregut, salivary glands, cardial epithelium, thoracic ganglion, brain, compound eye, anterior midgut, intermediate midgut/anterior abdominal ganglia, and calyx/hindgut/posterior abdominal ganglia. Fat body and intussuscepted foregut tissues lost infections after 16 days post‐inoculation.
State Healthcare and the Impact of Remittances on Turnout in Mexico

In Mexico remittances have long been used to compensate for the lack of coverage and quality of state-provided healthcare. Since the mid-2000s, however, those without insurance have been entitled to receive free healthcare via the Seguro Popular programme. While popular, the delivery of this scheme is highly localised and therefore vulnerable to political manipulation. Using a series of regression models based on data at the municipality level, this paper analyses all local elections in Mexico between 2010 and 2012 and the presidential election of 2012 to confirm results of the previous literature which found a negative relationship between remittances and voter turnout. However, the analysis reveals that the negative impact of remittances on turnout becomes larger with additional increases in the coverage of Seguro Popular, though only in those municipalities where the PRI (the former hegemonic party) is electorally strong. The evidence thus confirms that the discretionary character of welfare provision modulates the effect of remittances on turnout in sending municipalities, but only where party-based authoritarianism prevails.