Miracle-dz/UniFAR-FTUs huggingface dataset:
The mutation spectrum associated with type 3 von Willebrand disease in a cohort of patients from the North West of England

Summary. Type 3 von Willebrand disease (VWD) is a severe autosomal recessive inherited bleeding disorder. In affected individuals the underlying von Willebrand factor gene (VWF) mutations frequently remain uncharacterized. The aim of this study was to investigate the molecular basis of type 3 VWD in patients (11 Caucasians and 9 of Asian origin) attending the haemophilia centres at Central Manchester NHS Trust. A combination of DNA sequencing of VWF genomic and complementary DNA was performed to identify mutations in the patient cohort. Fifteen different VWF mutations were identified at the genomic DNA level: two gene conversion events, three nonsense, three frameshift, one missense, two splice site, one insertion‐deletion and three deletion mutations. Homozygosity or compound heterozygosity for mutations was present in 15 of the 20 patients. In the remaining five individuals, heterozygosity for a single VWF mutation was identified in four cases and one patient had no detectable VWF mutation. Analysis of platelet‐derived VWF RNA from these five individuals revealed heterozygosity for a deletion of exons 4 and 5 in four cases. The remaining patient was heterozygous for a three base deletion which had already been identified at the DNA level. Overall the observed VWF genotype explained the phenotype in 18 of the 20 patients investigated. In genetic studies in type 3 VWD, if VWF mutations are not detected at the DNA level, RNA analysis should be performed to search for intronic mutations, heterozygous deletions or aberrant splicing/post‐transcriptional events. However, this may still not explain all cases of previously phenotypically diagnosed type 3 VWD.
Validation and calibration of self-reported weight and height from individuals in the city of São Paulo.

OBJECTIVE To evaluate the validity of self-reported weight and height measurements among residents of São Paulo, as well as the accuracy of these measurements for determining nutritional status, and to present calibration coefficients. METHODS A cross-sectional, population-based study was performed with a sample of 299 adolescents, adults and elderly of both genders, in São Paulo in 2008. Bland-Altman difference plot and intraclass correlation were used to determine agreement between measured and self-reported parameters. Sensitivity and specificity were assessed for overweight, and calibration coefficients were estimated for correction of weight, height and body mass index data. RESULTS The intraclass correlation was high between self-reported and measured parameters for weight (r > 0,94) and body mass index (BMI) (r > 0,85). The agreement between measured and self-reported weight, height and BMI was good. Sensibility was > 91% and specificity was > 83%. CONCLUSION Self-reported weight measurements can substitute measured parameters in this population, in both genders and in the age groups studied. Self-reported height measurements should be used with caution. Calibration coefficients can be used to adjust self-reported measurements.
Serum Uric Acid Levels and the Risk of Impaired Fasting Glucose: A Prospective Study in Adults of North China

Objective To prospectively investigate the association between serum uric acid (SUA) level and incidence of impaired fasting glucose (IFG) in adult Chinese. Methods We evaluated 13,328 women and 41,350 men without diabetes and IFG. The participants were classified into quintile according to baseline level of SUA. Data were analyzed to examine the association between SUA levels and the incidence of IFG. We used Cox regression models to estimate the relative risk of IFG after adjusting for known risk factors. Results For men, the second quintile of SUA has the lowest cumulative incidence of IFG (29.9%); the fifth quintile of SUA has the highest cumulative incidence of IFG (35.6%). After corrected with Cox regression, the first quartile and the fourth quartile have higher cumulative incidence of IFG than the second quintile, with the HR of 1.11(1.05-1.17) and 1.07(1.01-1.13), respectively. For women, the first quartile of SUA has the lowest cumulative incidence of IFG (20.7%), while the fifth quintile of SUA has the highest cumulative incidence of IFG (30.0%). However, there is no significant difference in IFG between different quintile after adjusted with Cox regression. Conclusions The results of this prospective study suggest that there is a higher risk of developing IFG in association with low or high SUA concentrations for men. These relationships were independent of other known risk factors. There is no significant correlation in the risk of developing IFG in association with SUA concentrations for women. Analyses excluding participants with hypertension or with hyperlipidemia and analyses with participants stratified by age reached similar conclusion.
Divergent hemodynamic and hormonal responses to varying salt intake in normotensive subjects.

Blood pressure responses to 1 week of low-salt (20 mmol sodium/d) and high-salt (300 mmol sodium/d) intake were investigated in a single-blind randomized study in 163 white, nonobese normotensive subjects (65 women and 98 men; mean age, 38 +/- 1.2 years). The individuals were classified as salt sensitive when mean arterial blood pressure rose by at least 5 mm Hg during high-salt intake, as salt resistant when mean arterial blood pressure changed by less than 5 mm Hg, and as "counterregulator" when mean arterial blood pressure fell by at least 5 mm Hg during the high-salt diet. Reexamination of 31 subjects showed that this approach to the testing of salt sensitivity was reliable and reproducible. Thirty subjects (18.4%) were classified as salt sensitive, 108 (66.3%) as salt resistant, and 25 (15.3%) as counterregulators. Multiple regression analysis revealed that age, body weight, and family history of hypertension contributed significantly to the change in blood pressure after the diets. Salt sensitivity was more frequent in older subjects and in those with a positive family history of hypertension. An increase in blood pressure after salt restriction was more likely in younger individuals and in those with a negative family history of hypertension. Plasma renin activity and plasma aldosterone concentrations were lower in salt-sensitive compared with salt-resistant and counterregulating subjects. The rise in plasma renin activity during salt restriction was most pronounced in counterregulating subjects. Plasma norepinephrine concentrations were not different among the groups. (ABSTRACT TRUNCATED AT 250 WORDS)
Irritable bowel syndrome and health seeking behaviour in different communities of Pakistan.

OBJECTIVE To investigate the frequency of irritable bowel syndrome (IBS) and health seeking behaviour in patients belonging to different ethnic groups and their squatter settlements in two cities of Pakistan. METHODS Questionnaire based on Rome II criteria for the diagnosis of IBS was sent to 1167 persons living in, Karachi and Bahawalpur and their squatter settlements in Baloch Colony and Tibba Badar Sher respectively. About 90% (1048) completed the questionnaire. RESULTS The overall frequency of IBS was 14% with a mean age of 30 +/- 12.5 years and range of 16-85 years. Of the IBS positive patients, 56% (82/146) were males. IBS was significantly more common (p = 0.05) in males belonging to age group 16-30 years. The most common presenting symptoms were abdominal pain (100%), altered bowel habits (51%), and diarrhoea (54%). There was no difference in the prevalence of IBS in Karachi and Baloch Colony as compared to Bahawalpur and Tibba Badar Sher. IBS patients seeking health care advice were 17.6% as compared to 12.6 % non healthcare seekers. Of the healthcare seekers there were 29 (35.4%) males (p = 0.002). The overall mean age of health care seeking IBS patients was 32.8 +/-13.8 years (p < 0.001). All IBS patients seeking healthcare advice had abdominal pain (p < 0.001), while 61% had altered stool consistency (p < 0.001) and 46% had stool frequency (p < 0.001) as compared to IBS non healthcare seekers. CONCLUSION IBS is seen in both urban and suburban communities. Health seeking behaviour is common in males and with abdominal pain.
Analyzing and improving the IEEE 802.11-MAC protocol for wireless LANs

The MAC-part of the upcoming IEEE 802.11 standard for wireless LANs-named DFWMAC is based on a CSMA/CA-type access protocol with a rotating backoff window and an optional RTS/CTS message exchange. In this paper, following a short presentation of DFWMAC we present the results of our simulative analysis of DFWMAC focussing on analysis and improvements of the basic key mechanisms-the RTS/CTS message exchange and the backoff algorithm.
ASSESSING THE OPPOSITIONAL CULTURE EXPLANATION FOR RACIAL/ETHNIC DIFFERENCES IN SCHOOL PERFORMANCE*

The oppositional culture explanation for racial disparities in school performance posits that individuals from historically oppressed groups (involuntary minorities) signify their antagonism toward the dominant group by resisting school goals. In contrast, individuals from the dominant group and groups that migratedfreely to the host country (immigrant minorities) maintain optimistic views of their chances for educational and occupational success. Because of its historical and cross-cultural appeal, this explanation has been well-received by academics, although key implications of the theory have not been carefully tested. Proponents have failed to systematically compare perceptions of occupational opportunity and resistance to school across involuntary, dominant, and immigrant groups. Using a large sample of African American, Asian American, and non-Hispanic white high school sophomores from the first follow-up of the National Education Longitudinal Study, we provide the first rigorous test of the oppositional culture explanation. Upon close scrutiny, its key predictions fail. DR espite recent improvement on some measures, the gap in educational performance across racial groups persists. Finding explanations for that gap continues to frustrate academics. Some scholars point to characteristics of the minority family itself (Moynihan 1965), while others see differences in educational performance as primarily a function of social structural conditions (Bourdieu 1977; Bowles and Gintis 1976), such as the types of neighborhoods students live in (Massey and Denton 1993) and consequently the kinds of schools they attend. The oppositional culture explanation draws from both of these traditions, recognizing that social structural conditions shape opportunities but arguing that these conditions form students' motivation for schooling.
Equity of Literacy-Based Math Performance Assessments for English Language Learners

Abstract This article reports findings from a study that investigated math achievement differences between English language learners (ELLs) and fully English proficient (FEP) students on a literacy-based performance assessment (LBPA). It has been assumed that LBPAs are superior to standardized multiple-choice assessments, but it has not been determined if LBPAs are appropriate for measuring the math achievement of ELLs. The most salient characteristic of LBPAs is that students read multi-level questions and explain how they solve math problems in writing. Thus, LBPAs place great literacy demands upon students. Because most ELLs have underdeveloped literacy skills in English, these demands put ELLs at a great disadvantage. Analysis revealed that socioeconomic status (SES) had a significant impact on all students, but the impact was larger on FEP students than on ELLs; high-SES FEP students outperformed high-SES ELLs, but there was no significant difference between low-SES ELLs and low-SES FEP students. High SES generally means more cognitive academic language proficiency, because of the influence of non-school factors such as the presence of a print-rich environment. High-SES ELLs did not do as well as high-SES FEP students because of a lack of academic English. The nature of the examination masked their true abilities. The finding of no difference between low-SES ELLs and low-SES FEP students, however, could be a result of the fact that neither group had the advantage of high cognitive academic language proficiency; the FEP students' only “advantage” was superior conversational English, of little use for performing academic tasks. This article concludes that LBPAs, together with the current assessment-driven accountability system, seriously undermine equal treatment for ELLs.
Disagreement and concession in disputes: On the context sensitivity of preference structures

ABSTRACT This article discusses disagreement sequences in German and Anglo-American disputes. It is argued that the context sensitivity of preference for agreement with assessments that Pomerantz 1984 found in her data has to be elaborated and extended. My findings suggest that the preference structure can change once a dissent-turn-sequence has been displayed; in this case, opponents are expected to defend their positions. The reduction of reluctance markers creates a new preference structure which itself has to be accomplished by all participants. Concessions, defined as a participant's agreeing to the central issue after his or her prior disagreement, show reluctance markers which are viewed as indicators of the dispreferred status in other types of talk. Concessions can be distinguished from partially agreeing presequences of dissent turns. Speakers move toward concessions stepwise. Unprepared position shifts can be regarded by the interlocutors as the inability to defend an opinion. Concessions, being an interactional achievement, reframe the dispute. (Conversation analysis, dispute, context studies, expectation management)
A Prospective Study of Relationships Between Severity of Liver Disease, PaO 2 Response to 100% Oxygen, and Brain Uptake After 99m Tc MAA Lung Scanning

(48 6 18% vs 25 6 20%; p < 0.04) and lower PaO2 on RA (40 6 7m m Hg vs 576 11 mm Hg; p < 0.001). Conclusion: The degree of hypoxemia associated with HPS was not related to the CP severity of liver disease. HPS patients with additional nonvascular pulmonary abnormalities exhibited lower PaO2 on 100% oxygen. Mortality was associated with lower PaO2 on RA, and with greater brain uptake of 99m Tc MAA. (CHEST 2000; 118:615‐ 624)
Static Isolated Horizons: SU(2) Invariant Phase Space, Quantization, and Black Hole Entropy

We study the classical field theoretical formulation of static generic isolated horizons in a manifestly SU(2) invariant formulation. We show that the usual classical description requires revision in the non-static case due to the breaking of diffeomorphism invariance at the horizon leading to the non-conservation of the usual pre-symplectic structure. We argue how this difficulty could be avoided by a simple enlargement of the field content at the horizon that restores diffeomorphism invariance. Restricting our attention to static isolated horizons we study the effective theories describing the boundary degrees of freedom. A quantization of the horizon degrees of freedom is proposed. By defining a statistical mechanical ensemble where only the area aH of the horizon is fixed macroscopically—states with fluctuations away from spherical symmetry are allowed—we show that it is possible to obtain agreement with the Hawkings area law (S = aH /(4l 2p)) without fixing the Immirzi parameter to any particular value: consistency with the area law only imposes a relationship between the Immirzi parameter and the level of the Chern-Simons theory involved in the effective description of the horizon degrees of freedom.
Cocaine Esterase: Interactions with Cocaine and Immune Responses in Mice

Cocaine esterase (CocE) is the most efficient protein catalyst for the hydrolysis of cocaine characterized to date. The aim of this study was to investigate the in vivo potency of CocE in blocking cocaine-induced toxicity in the mouse and to assess CocE's potential immunogenicity. Cocaine toxicity was quantified by measuring the occurrence of convulsions and lethality. Intravenous administration of CocE (0.1–1 mg) 1 min before cocaine administration produced dose-dependent rightward shifts of the dose-response curve for cocaine toxicity. More important, i.v. CocE (0.1–1 mg), given 1 min after the occurrence of cocaine-induced convulsions, shortened the recovery time after the convulsions and saved the mice from subsequent death. Effects of repeated exposures to CocE were evaluated by measuring anti-CocE antibody titers and the protective effects of i.v. CocE (0.32 mg) against toxicity elicited by i.p. cocaine (320 mg/kg) (i.e., 0–17% occurrence of convulsions and lethality). CocE retained its potency against cocaine toxicity in mice after a single prior CocE exposure (0.1–1 mg), and these mice did not show an immune response. CocE retained similar effectiveness in mice after three prior CocE exposures (0.1–1 mg/week for 3 weeks), although these mice displayed 10-fold higher antibody titers. CocE partially lost effectiveness (i.e., 33–50% occurrence of convulsions and lethality) in mice with four prior exposures to CocE (0.1–1 mg/2 week for four times), and these mice displayed ∼100-fold higher antibody titers. These results suggest that CocE produces robust protection and reversal of cocaine toxicity, indicating CocE's therapeutic potential for acute cocaine toxicity. Repeated CocE exposures may increase its immunogenicity and partially reduce its protective ability.
Comparative study of craniofacial morphology and bite force in Fijians and Japanese

An anthropological survey was conducted in Fiji in 1994 and 1995 to study dental arch form, craniofacial morphology, and bite force of Fijians. Measurements were obtained from dental casts, cephalograms, and thin pressure‐sensitive sheets (Dental Prescale®) for bite force analysis. Results were compared with those of Japanese. In every direction, the size of the dental arch in Fijians was larger than in Japanese. Fijians displayed longer palates, longer mandibles, and bimaxillary protrusion. There was no significant difference in upper and lower facial heights. FH to lower incisor angle in Fijians was significantly larger than in Japanese. Fijians were characterized by a small palatal plane angle, occlusal plane angle and mandibular plane angle, and were thus brachyfacial. The Japanese tended to be more dolichofacial. The distances from the Cd line to the pterygoid muscles, masseter muscles, and teeth in Fijians were significantly longer than in Japanese. Occlusal contact areas of Fijians were also greater than those of Japanese. The results indicate that the masticatory muscles and craniofacial morphologies supporting them would be better integrated in Fijians than in Japanese. Am. J. Hum. Biol. 10:63–72, 1998. © 1998 Wiley‐Liss, Inc.
Predicting Chinese young consumers’ acceptance of mobile advertising: a structural equation modeling approach

A survey of Chinese college students was conducted in May and June 2009 to test a model of mobile advertising developed by Merisavo and associates in 2007 in which five factors (utility, context, control, sacrifice, and trust) predict consumer acceptance of mobile advertising. A structural equation modeling was employed to fit the model to survey data from 422 completed usable questionnaires. Generally, the model achieved a reasonable fit with significant standardized regression coefficients on utility, control, sacrifice, and trust. Context seems not to be an important factor while control is a negative predictor. The model cannot be directly transplanted to China, and future research is needed to develop a comprehensive model of Chinese consumers’ acceptance of mobile advertising. Implications for Chinese and global mobile marketers are discussed.
Nucleolar Follistatin Promotes Cancer Cell Survival under Glucose-deprived Conditions through Inhibiting Cellular rRNA Synthesis*

Solid tumor development is frequently accompanied by energy-deficient conditions such as glucose deprivation and hypoxia. Follistatin (FST), a secretory protein originally identified from ovarian follicular fluid, has been suggested to be involved in tumor development. However, whether it plays a role in cancer cell survival under energy-deprived conditions remains elusive. In this study, we demonstrated that glucose deprivation markedly enhanced the expression and nucleolar localization of FST in HeLa cells. The nucleolar localization of FST relied on its nuclear localization signal (NLS) comprising the residues 64–87. Localization of FST to the nucleolus attenuated rRNA synthesis, a key process for cellular energy homeostasis and cell survival. Overexpression of FST delayed glucose deprivation-induced apoptosis, whereas down-regulation of FST exerted the opposite effect. These functions depended on the presence of an intact NLS because the NLS-deleted mutant of FST lost the rRNA inhibition effect and the cell protective effect. Altogether, we identified a novel nucleolar function of FST, which is of importance in the modulation of cancer cell survival in response to glucose deprivation.
Preditores da qualidade de vida numa amostra de mulheres com cancro da mama

Objetivo: Analisar a relacao das variaveis alexitimia, espiritualidade, assertividade, ansiedade, depressao e qualidade de vida, com o objetivo de construir um modelo preditor da qualidade de vida numa amostra de mulheres com cancro de mama. Metodo: A amostra inclui 85 mulheres com cancro de mama dum hospital do Porto, com uma media de 47 anos e maioritariamente casadas. As doentes foram avaliadas atraves de 6 instrumentos de autopreenchimento: Questionario Sociodemografico e Clinico; Hospital Anxiety and Depression Scale (HADS); Escala de Alexitimia de Toronto (TAS-20); Escala de Avaliacao da Espiritualidade; Escala de Assertividade de Rathus e Quality of Life Questionnaire (EORTC QLQC-30, v.3.0). Resultados: Os resultados indicam que estas mulheres sao mais alexitimicas do que a populacao normativa e que uma das estrategias de coping adaptativas a que recorrem e a esperanca/otimismo. Nao apresentam sintomatologia depressiva acentuada, sendo a componente ansiosa a mais evidente. A avaliacao que apresentam em relacao a sua qualidade de vida global parece ser positiva. O modelo preditor obtido exclui o efeito das crencas espirituais/religiosas e da assertividade e salienta a impor tância da alexitimia como fator de risco e da esperanca/otimismo como fator protetor da qualidade de vida de mulheres com cancro de mama, depois de controladas as variaveis ansiedade e depressao. Palavras-chave: Cancro de mama, Alexitimia, Espiritualidade, Assertividade, Qualidade de vida.