Miracle-dz/UniFAR-FTUs huggingface dataset:
Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes.

A total of 254 affected parent-child pairs with Huntington disease (HD) and 440 parent-child pairs with CAG size in the normal range were assessed to determine the nature and frequency of intergenerational CAG changes in the HD gene. Intergenerational CAG changes are extremely rare (3/440 [0.68%]) on normal chromosomes. In contrast, on HD chromosomes, changes in CAG size occur in approximately 70% of meioses on HD chromosomes, with expansions accounting for 73% of these changes. These intergenerational CAG changes make a significant but minor contribution to changes in age at onset (r2 = .19). The size of the CAG repeat influenced larger intergenerational expansions (> 7 CAG repeats), but the likelihood of smaller expansions or contractions was not influenced by CAG size. Large expansions (> 7 CAG repeats) occur almost exclusively through paternal transmission (0.96%; P < 10(-7)), while offspring of affected mothers are more likely to show no change (P = .01) or contractions in CAG size (P = .002). This study demonstrates that sex of the transmitting parent is the major determinant for CAG intergenerational changes in the HD gene. Similar paternal sex effects are seen in the evolution of new mutations for HD from intermediate alleles and for large expansions on affected chromosomes. Affected mothers almost never transmit a significantly expanded CAG repeat, despite the fact that many have similar large-sized alleles, compared with affected fathers. The sex-dependent effects of major expansion and contractions of the CAG repeat in the HD gene implicate different effects of gametogenesis, in males versus females, on intergenerational CAG repeat stability.
The Effect of Investment Toward Economic Growth in The Local Economy

This study to analyze the role of investment such as total foreign direct investment and domestic direct investment, inflation, and road infrastructure to the economic growth of South Sumatera Province, Indonesia. The data used is time series data from 2007-2015, the scope of this study is 15 districts/city in South Sumatera Province, which is sourced from the publication of Central Bureau of Statistics (BPS) and the publication of the Investment Coordinating Board (BKPM) South Sumatra Province. The analysis method in this study is quantitative analysis using data panel multiple regression model. The finding of this study that investment, inflation, and road infrastructure development jointly has positive and significant effect on the economic growth. Meanwhile, partially indicating that investment and road infrastructure have positive and significant impact to economic growth, while inflation has positive sign but insignificant effect on economic growth of South Sumatera Province
Sex-Specific Effect of the Thermolabile C677T Mutation in the Methylenetetrahydrofolate Reductase Gene on Angiographically Assessed Coronary Artery Disease in Brazilians

ABSTRACT Hyperhomocysteinemia is associated with increased coronary artery disease (CAD) risk. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the metabolism of homocysteine and presents a common mutation (C677T) that leads to a thermolabile enzyme, mild hyperhomocysteinemia, and increased CAD risk. The C677T MTHFR mutation was studied in 772 subjects (480 Caucasian Brazilians and 292 African Brazilians) who underwent coronary angiography at the hemodynamic center of the Santa Izabel Hospital in Salvador, Bahia State, Brazil. The 677T allele frequency was increased in Caucasian Brazilians (28.1%) compared to the frequency observed in African Brazilians (18.3%; p < 0.001). In Caucasian Brazilians the frequency of the 677T homozygous genotype was increased in CAD cases (10.4%) compared to control subjects (1.4%; p = 0.014) in males but not in females. In African Brazilians the mutation was not associated with CAD in either sex. The multivariate logistic regression analysis of all the samples shows that the 677T homozygous interaction with sex was a significant CAD predictor, independent of other classical risk factors and ethnic group. The odds ratio associated with male 677T homozygotes was increased 9.2-fold (p = 0.021) compared to the 677C carriers. The present study suggests that the C677T MTHFR mutation is associated with increased CAD risk in a sex-dependent manner in Brazilians.
Performance characteristics of the Becton Dickinson ProbeTec System for direct detection of Chlamydia trachomatis and Neisseria gonorrhoeae in male and female urine specimens in comparison with the Roche Cobas System.

OBJECTIVE The Becton Dickinson BDProbeTec ET System is a new semiautomated system using strand displacement amplification technology that simultaneously amplifies and detects Chlamydia trachomatis and Neisseria gonorrhoeae DNA. The strand displacement amplification products are hybridized with a fluorescent detector probe and are captured by a chemiluminescent assay in a microwell format. An amplification control is also included to monitor assay inhibition. This study evaluated the performance of the BDProbTec ET system in detecting C trachomatis and N gonorrhoeae in male and female urine specimens, calculated its ability to process large volumes of specimens, and determined the inhibition rate. MATERIALS AND METHODS Eight hundred twenty-five male and 399 female urine specimens were tested for both C trachomatis and N gonorrhoeae with the BDProbeTec ET system, and results were compared with those of the Roche Amplicor Cobas system. All urine specimens were processed on both assays on the same day they were received, according to the manufacturers' instructions. Discrepant results were resolved by in-house polymerase chain reaction assays. Internal or amplification controls were also used in each specimen assay to monitor inhibition. The throughput of the BDProbTec ET system was further tested with 150 urine specimens on an 8-hour shift for 2 days. RESULTS The overall sensitivity, specificity, positive predicative value, and negative predicative value for for detection of chlamydia were 95.3%, 99.3%, 95.9%, and 99.2% for strand displacement amplification and 95.9%, 98.3%, 90.6%, and 99.3% for the Roche Amplicor system. For detection of gonorrhea, these values were 100%, 99.7%, 88.2%, and 100% and 96.7%, 98.9%, 69%, and 99.9%, respectively. The overall inhibition rates for both strand displacement amplification and Roche Amplicor were less than 3.5%. The BDProbTec ET system was able to produce 150 results each for chlamydia and gonorrhea and the internal control within the 8-hour shift. CONCLUSIONS The performance characteristics of the BDProbeTec ET assay are similar to those of the Roche Amplicor polymerase chain reaction for detection of chlamydia and gonorrhea in male and female urine specimens. The system was able to produce 300 results in an 8-hour shift.
Frost damage in Pinus sylvestris L. stems assessed by chlorophyll fluorescence in cortical bark chlorenchyma

Abstract• Several techniques were used to investigate the threshold minimum temperature inducing severe frost damage during winter in Scots pine (Pinus sylvestris L.) needles and stems from southern provenances in the Iberian Peninsula. • Chlorophyll (Chl) fluorescence, electrolyte leakage (EL), visual scoring (VS), and the normalized difference vegetation index (NDVI) were compared. • Chl fluorescence, and in particular the maximum potential photosystem II (PSII) efficiency — estimated through the dark-acclimated FV/FM ratio-, was found to be a simple, non-destructive indicator of freezing tolerance in needles, as expected. • Moreover, the existence of a Chl-containing tissue, the cortical bark chlorenchyma, allowed us the use of Chl fluorescence as a new non-destructive indicator of frost damage in live tissues of Pinus sylvestris L. stems. • Freezing tolerance values of southern provenances are compared with those found by other authors in the northern distribution limit of the species. Résumé• Plusieurs techniques ont été utilisées pour rechercher les seuils minima de température qui occasionnent des dommages dans les aiguilles et les troncs de pin sylvestre (Pinus sylvestris L.) de provenances méridionales de la péninsule Ibérique. • Les résultats obtenus à partir de la mesure de la fluorescence de chlorophylle (Chl), de la libération d’électrolytes (EL), d’une évaluation visuelle (VS) et d’un indice d’activité végétale normalisé (NDVI) ont été comparés. • La fluorescence de chlorophylle, et en particulier l’efficience maximale du photosystème II (PSII) qui est estimée à partir du rapport FV/FM des échantillons acclimatés à l’obscurité, a été confirmée comme une méthode simple et non destructive pour estimer la tolérance au froid des aiguilles de pin, comme cela avait déjà mis en évidence par d’autres études. • En outre, l’existence d’un tissu chlorophyllien dans la partie corticale de l’écorce du tronc a permis l’emploi avec succès de la mesure fluorescence de chlorophylle comme nouvel indicateur non destructif de la résistance au froid des tissus vivants des troncs de Pinus sylvestris L. • Ces estimations de tolérance au froid, trouvées pour des provenances méridionales de Pinus sylvestris L. , ont été comparées avec celles rapportées par d’autres auteurs pour des provenances plus septentrionales.
Variability in Anticoagulation Management of Patients on Extracorporeal Membrane Oxygenation: An International Survey*

Objective: The objective of this study was to determine current practices of anticoagulation in patients on extracorporeal membrane oxygenation. Design: Internet-based cross-sectional survey distributed between November 2010 and May 2011. Setting: Extracorporeal Life Support Organization-registered extracorporeal membrane oxygenation centers internationally. Participants: Extracorporeal membrane oxy genation medical directors and coordinators. Interventions: None. Measurements and Main Results: There were 121 responses from extracorporeal membrane oxy genation medical directors and coordinators at 187 Extracorporeal Life Support Organization centers with access to the survey. Eighty-four of 117 (72%) respondents reported having a written institutional extracorporeal membrane oxy genation protocol for both anticoagulation and blood product management at their institutions. Sixty-nine of 117 (59%) respondents reported use of tip-to-tip or partially heparin-bonded circuits. Unfractionated heparin was used at all centers; only 8% of respondents indicated use of alternative anticoagulation medications in the six months prior to the survey. The preferred method of anticoagulation monitoring was the serial measurement of activated clotting time, as reported by 97% of respondents. In this survey, 82% of respondents reported antithrombin III testing, 65% reported anti-factor Xa testing, and 43% reported use of thromboelastography during extracorporeal membrane oxy genation. Goal ranges for these three tests and interventions triggered by out-of-range values were found to be variable. Conclusions: Extracorporeal membrane oxy genation anticoagulation management policies vary widely by center. The majority of extracorporeal membrane oxy genation programs employ activated clotting time as the preferred anticoagulation monitoring tool. The coagulation system is also monitored using more specific markers such as antithrombin III, anti-factor Xa, and thromboelastography by a large number of centers. Future research is needed to elucidate optimal anticoagulation management and improve outcomes.
Altered expression of transcription factors and genes regulating lipogenesis in liver and adipose tissue of mice with high fat diet-induced obesity and nonalcoholic fatty liver disease

Objective To determine whether expression of transcription factors and lipogenic enzymes is altered in liver and adipose tissue of mice with obesity, insulin resistance, and nonalcoholic fatty liver disease. Methods Mice were fed chow containing 9% of calories from standard fat (SF) or 20% of calories from high fat (HF) and killed after 9 months in the fasted or fed state. Measurements Liver injury was evaluated by histology and serum aminotransferase levels. Transcription factor expression was measured by real-time PCR. Lipogenic enzymes were measured by real-time PCR and Western blots. Results HF mice weighed more, had insulin resistance, hepatic steatosis, and focal pericellular hepatic fibrosis. Hepatic expression of sterol regulatory element-binding protein-1c, carbohydrate response element-binding protein, liver X receptor-&agr;, acetyl-CoA carboxylase (ACC), and fatty acid synthase (FAS) decreased during fasting in SF and HF mice; however, FAS expression and protein content were higher in the liver of fasted HF mice than of fasted SF mice. In adipose tissue, expression of sterol response element-binding protein-1c, carbohydrate response element-binding protein, liver X receptor-&agr;, peroxisome proliferator-activated receptor-&ggr;, ACC, and FAS decreased with fasting in mice fed SF, but not in HF mice. ACC and FAS expression and protein content remained higher during fasting in HF than in SF mice. Conclusion Feeding a nutritionally complete diet containing a moderate increase in fat produces obesity and steatohepatitis. During fasting, hepatic FAS expression and protein content are increased in HF mice. Transcription factor expression, and lipogenic enzyme expression and protein concentration do not decline during fasting in adipose tissue from HF mice. De-novo lipogenesis may persist in liver and adipose tissue during fasting in obesity/nonalcoholic fatty liver disease.
Modulation of alpha-crystallin chaperone activity in diabetic rat lens by curcumin.

PURPOSE A decline in the chaperone-like activity of eye lens alpha-crystallin in diabetic conditions has been reported. In this study, we investigated whether curcumin, a dietary antioxidant, can manipulate the chaperone-like activity of alpha-crystallin in diabetic rat lens. METHODS A group of rats received ip injection of streptozotocin (STZ; 35 mg/kg body weight in buffer) to induce hyperglycemia, while another group of rats received only buffer as vehicle and served as control. STZ-treated rats were assigned to 3 groups and fed either no curcumin or 0.002% or 0.01% curcumin, respectively. Cataract progression due to hyperglycemia was monitored with a slit lamp biomicroscope. At the end of 8 weeks animals were sacrificed and lenses were collected. alphaH- and alphaL-crystallins from a set of pooled lenses in each group were isolated by gel filtration. Chaperone activity, hydrophobicity, and secondary and tertiary structure of alphaH- and alphaL-crystallins were assessed by light scattering/spectroscopic methods. RESULTS A decrease in chaperone-like activity of alphaH- and alphaL-crystallins was observed in STZ-treated diabetic rats. The declined chaperone-like activity due to hyperglycemia was associated with reduced hydrophobicity and altered secondary and tertiary structure of alphaH- and alphaL-crystallins. Interestingly, alphaH- and alphaL-crystallins isolated from curcumin fed diabetic rat lenses had shown improved chaperone-like activity as compared to alphaH- and alphaL-crystallins from untreated diabetic rat lens. Feeding of curcumin prevented the alterations in hydrophobicity and structural changes due to STZ-induced hyperglycemia. Modulation of functional and structural properties by curcumin was found to be greater with the alphaL-crystallin than alphaH-crystallin. Loss of chaperone activity of alpha-crystallin, particularly alphaL-crystallin, in diabetic rat lens could be attributed at least partly to increased oxidative stress. Being an antioxidant, curcumin feeding has prevented the loss of alpha-crystallin chaperone activity and delayed the progression and maturation of diabetic cataract. CONCLUSIONS We demonstrate that curcumin, at the levels close to dietary consumption, prevented the loss of chaperone-like activity of alpha-crystallin vis-a-vis cataractogenesis due to diabetes in rat lens.
The Impact of Board Members Involvement on Return on Equity (ROE)

From a developing economy, the impact of board members involvement on return on equity has been analyzed. The current study uses the correlation and regression models to analyze publicly available data of which the sample firms were taken from 11 sectors that are quoted in the Nigerian Stock Exchange for one financial year. Several diagnostic tests have been applied to justify the validity of the results. The empirical investigations reveal that two of the independent variables have significant impact on return on equity. This research paper in its originality is the first of its kind in a developing economy like Nigeria.
Role of viruses and atypical bacteria in exacerbations of asthma in hospitalized children: A prospective study in the Nord‐Pas de Calais region (France)

We studied the role of viruses and atypical bacteria in children hospitalized with exacerbated asthma by a prospective study of children with acute asthma admitted to the Department of Pediatrics in Lille, and to 15 hospitals in the Nord‐Pas de Calais region, from October 1, 1998–June 30, 1999. We included children aged 2–16 years with active asthma, defined as three or more recurrent episodes of reversible wheezing. The severity of asthma and of asthmatic exacerbations was recorded. Immunofluorescence assays (IFA) on nasopharyngeal secretions (NPS), serological tests, or both, were used for detection of influenza virus, respiratory syncytial virus (RSV), adenovirus, parainfluenza virus, and coronavirus. Polymerase chain reaction (PCR) assays on NPS were used for rhinovirus and enterovirus. Serological tests for Chlamydia pneumoniae and Mycoplasma pneumoniae were performed. A control group of asymptomatic asthmatic outpatients was examined for respiratory viruses (using IFA and PCR). Eighty‐two symptomatic children (mean age, 7.9 years) were examined. Viruses were detected in 38% (enterovirus, 15.8%; rhinovirus, 12%; RSV, 7.3%). Serological tests for atypical bacteria were positive in 10% of patients (C. pneumoniae, 5%; M. pneumoniae, 5%). Among the 27 control subjects (mean age, 7.9 years), one PCR was positive for enterovirus. There was no correlation between severity of chronic asthma or asthmatic exacerbations and the diagnosis of infection. Atypical bacterial pathogen infections were linked with prolonged asthmatic symptoms. In conclusion, we confirmed the high incidence of viral infection in acute exacerbations of asthma, especially enteroviruses or rhinoviruses. Persistent clinical features were more frequently associated with atypical bacterial infections, suggesting that these infections should be investigated and treated in cases of persistent asthmatic symptoms. Pediatr Pulmonol. 2003; 35:75–82. © 2003 Wiley‐Liss, Inc.
Cholesterol Levels and Risk of Hemorrhagic Transformation after Acute Ischemic Stroke

Background: The association between cholesterol levels and hemorrhagic transformation (HT) is still controversial. Studies investigating this issue are influenced by treatments as some are characterized by a higher risk of HT. The aim of our study was to evaluate, in a hospital-based series of patients not treated with thrombolysis, the relationship between cholesterol levels and HT. Methods: We retrospectively collected information about total cholesterol (TC) and low-density lipoprotein cholesterol (LDLC) levels at admission in a consecutive series of 240 patients with anterior ischemic stroke (IS). The TC and LDLC levels were arranged in 3 groups according to their percentile distribution. Results: TC levels were available for 215 patients (89.6%), while LDLC levels were available for 184 patients (76.7%). The risk of HT significantly increased with decreasing levels of TC (p for trend = 0.03) and LDLC (p for trend = 0.01). In multivariate analysis, the risk of HT was significantly higher in the groups of patients with the lowest TC (OR 2.8, 95% CI 1.0–8.9, p = 0.05) and LDLC (OR 5.0, 95% CI 1.2–20.1, p = 0.002) values compared to those with the highest ones. Conclusion: We confirm that lower TC and lower LDLC levels are associated with an increased risk of HT. As none of our patients received thrombolytic therapy, the results of our study provide baseline information about the natural history of HT.
Effect of glycine powder air-polishing on the gingiva.

OBJECTIVES Safety and efficacy of glycine powder air-polishing (GPAP) in removing subgingival biofilm have been previously demonstrated. The hypothesis that GPAP results in less gingival erosion than sodium bicarbonate air-polishing (SBAP) or hand-instrumentation was assessed. MATERIAL AND METHODS In each of 10 patients, eight teeth with a residual probing depth of at least 5 mm following initial periodontal therapy were randomly assigned to the following interventions: GPAP (test), SBAP (positive control), hand-instrumentation (positive control), or no treatment (negative control). In each group, gingival biopsies were taken immediately after instrumentation and one 14 days later. Damaged gingival epithelium (GE) was assessed by light microscopy and quantified by a histological score (values 1-4). Differences between groups were evaluated using the marginal homogeneity test. RESULTS GPAP resulted in minor erosions of the GE (scores 1 and 2), whereas positive control specimens displayed moderate to severe erosions (scores 2-4). Differences between GPAP and positive controls were significant (p<0.05). Fourteen days following instrumentation GE under assessment was found to be intact in all groups. CONCLUSION The data indicated that GPAP results in less gingival erosion than SBAP or hand instrumentation, further supporting the safety of this new debridement technique.
Second to None

The purpose of this chapter is to foreground the experiences of women of Color who serve in full-time, contingent faculty roles and interrogate the policies and practices that present both barriers and opportunities for these faculty members within the academy. Using a conceptual framework of previous literature in combination with critical race feminism and structuration theory, the authors discuss the ways in which identity (race, gender, and age) and position (contingent vs. tenure-track) influence faculty life and teaching. Throughout this discussion, the authors also introduce results from a study they conducted on Black women contingent faculty. The chapter concludes with the authors offering suggestions for institutional policy and practice.
Promoting breast and cervical cancer screening at the workplace: results from the Woman to Woman Study.

OBJECTIVES This article reports findings from a peer-delivered intervention designed to increase use of breast and cervical cancer screening. METHODS Twenty-six worksites were randomly assigned to the intervention or comparison group. The 16-month intervention consisted of group discussions, outreach, and educational campaigns. Data were collected from a random sample of women employees stratified by age (baseline n = 2943; final n = 2747). Cross-sectional analyses were conducted to evaluate the impact of the intervention on screening behaviors. RESULTS Relative to comparison worksites, the intervention group experienced greater increases in the percentage of women who reported a recent mammogram (7.2% vs 5.6%), clinical breast examination (5.8% vs 2.1%), and Papanicolaou (Pap) test (4.7% vs 1.9%). After worksite cluster and age strata were controlled for, the observed increase in Pap tests was significantly greater in the intervention group (odds ratio [OR] = 1.28; 95% confidence interval [CI] = 1.01, 1.62); however, differences in mammography screening rates (OR = 1.14; 95% CI = 0.90, 1.44) and clinical breast examination (OR = 1.19; 95% CI = 0.96, 1.49) were not statistically significant. CONCLUSIONS Intervention activities produced a modest increase in cervical cancer screening, but they did not accelerate breast cancer screening rates above the observed secular trend.