Miracle-dz/UniFAR-FTUs huggingface dataset:
17q12 deletion and duplication syndrome in Denmark—A clinical cohort of 38 patients and review of the literature

17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosomal microarray analysis (CMA). The aberrations encompass the genes, HNF1B, LHX1, and ACACA, among others. We here describe a large national cohort of 12 phenotyped patients with 17q12 deletions and 26 phenotyped patients with 17q12 duplications. The total cohort includes 19 index patients and 19 family members. We also reviewed the literature in order to further improve the basis for the counseling. We emphasize that renal disease, learning disability, behavioral abnormalities, epilepsy, autism, schizophrenia, structural brain abnormalities, facial dysmorphism, and joint laxity are features seen in both the 17q12 deletion syndrome and the reciprocal 17q12 duplication syndrome; and we extend the list of features seen in both patient categories to include strabismus, esophageal defects, and duodenal atresia. Delayed language development, learning disability, kidney involvement, and eye dysmorphism and strabismus were the most consistently shared features among patients with 17q12 deletion. Patients with 17q12 duplications were characterized by an extremely wide phenotypic spectrum, including a variable degree of learning disabilities, delayed language development, delayed motor milestones, and a broad range of psychiatric and neurological features. This patient group also included adults achieving an academic degree. Assessing index patients and non‐index patients separately, our observations illustrate that an overall milder disease burden is seen, in particular in patients with 17q12 duplications who are ascertained on the duplication rather than the phenotype. This evidence may be useful in prenatal counseling. © 2016 Wiley Periodicals, Inc.
Eastern European welfare states: the impact of the politics of globalization

This article is divided into four parts. First there is a summary of the social policy of the old state-socialist regimes, some description of the legacy of social problems which they bequeathed to those making the transition to capitalism and a brief summary of the major social costs of the early years of the transition process. Second, the broad social-policy strategies of the new governments of Eastern Europe and the former USSR are reviewed as they have attempted to manage both the legacy of social problems from the past and the new social costs of transition. Third, in more detail developments in five specific fields are described: levels of public expenditure on social welfare; income maintenance policy; health and medical care; housing; and education. The article concludes by attempting to explain these changes, asking whether the policy changes have been motivated by a perceived need to reduce social provision, with a view to becoming more competitive within the global economy.
A fatal case of human babesiosis in Portugal: molecular and phylogenetic analysis

We report the first case of human babesiosis in Portugal. A 66‐year‐old splenectomized man was admitted to a Lisbon hospital after 1 week of fever, abdominal pain, anorexia and nausea. A high parasitaemia (30%) of Babesia parasites was found in Giemsa‐stained blood smears and, despite treatment, the patient died several weeks later of renal failure. Ethylenediaminetetraacetic acid blood samples were processed for polymerase chain reaction (PCR) and reverse line blot hybridization to confirm and characterize the Babesia infection. The amplified PCR product was cloned and subsequently sequenced. Molecular analysis showed that the infection was caused by Babesia divergens and that other blood parasites were not involved. Phylogenetic analysis showed that the 18 S ribosomal RNA gene sequence was similar to three other European isolates of B. divergens. In view of the high risk for splenectomized individuals, strict measures should be taken to avoid tick bites.
Interaction of the Thiol-Dependent Reductase ERp57 with Nascent Glycoproteins

Calnexin and calreticulin interact specifically with newly synthesized glycoproteins in the endoplasmic reticulum (ER) and function as molecular chaperones. The carbohydrate-specific interactions between ER components and glycoproteins synthesized in isolated canine pancreatic microsomes were analyzed using a cross-linking approach. A carbohydrate-dependent interaction between newly synthesized glycoproteins, the thiol-dependent reductase ERp57, and either calnexin or calreticulin was identified. The interaction between ERp57 and the newly synthesized glycoproteins required trimming of the N-linked oligosaccharide side chain. Thus, it is likely that ERp57 functions as part of the glycoprotein-specific quality control machinery operating in the lumen of the ER.
Beam division multiple access for massive MIMO downlink transmission

We study a multiuser multicarrier downlink communication system in which the base station (BS) employs a large number of antennas. By assuming frequency-division duplex operation, we provide a beam domain channel model as the number of BS antennas grows asymptotically large. With this model, we first derive a closed-form upper bound on the achievable ergodic sum-rate before developing necessary conditions to asymptotically maximize the upper bound, with only statistical channel state information at the BS. Inspired by these conditions, we propose a beam division multiple access (BDMA) transmission scheme, where the BS communicates with users via different beams. For BDMA transmission, we design user scheduling to select users within non-overlapping beams, work out an optimal pilot design under a minimum mean square error criterion, and provide optimal pilot sequences by utilizing the Zadoff-Chu sequences. The proposed BDMA scheme reduces significantly the pilot overhead, as well as, the processing complexity at transceivers. Simulations demonstrate the high spectral efficiency of BDMA transmission and the advantages in the bit error rate performance of the proposed pilot sequences.
The Dynamics of Indonesia's Urbanisation, 1980–2006

This study examines continuity and change in patterns of Indonesia's urbanisation during the boom economy until the decentralisation era, using data mainly from the National Population Census 1980–2000 and from the Village Potential (PODES) 2006. Urbanisation in Indonesia is still characterised by a heavy concentration of the urban population in a few large cities, notably the Jakarta Metropolitan Area (JMA), which might reflect an integration of Jakarta into the global economy. It might also reflect an interurban disparity, between large and smaller cities. The population on the fringes of large cities is growing rapidly, while in the inner cities it is increasing at a very low rate of growth. Urban spatial development in Java is shaping belts, which connect many of the large cities. The intermediate cities and small towns on the outer islands have a relatively higher population growth rate compared with those in Java, which might suggest that those towns and cities are playing a more significant role in regional development.
An exploratory study of the SCM practices and IT usage: an emerging market context

Supply chain management has become a critical source of sustainable advantage. Connectivity with all the partners and ability to communicate rapidly and accurately along the supply chain with customers and suppliers, using information technology tools, is essential. This paper reports the findings of a postal survey carried out in 54 Indian manufacturing organisations to ascertain the impact of information technology on supply chain management practices. The findings indicate that the use of electronic means of communication, such as e-markets, electronic data interchange and extranets will increase along with e-mails. The use of supply chain planning and control tools and techniques such as APS, VMI, CPFR etc. are in their infancy stage. The organisations intend to invest heavily in information technology to encourage adoption of e-business. Large organisations are ahead of the small and medium enterprises in the usage of information technology in different functional areas.
Informal Influences in Selecting Female Political Candidates

The authors argue that the gender composition of party gatekeepers—those responsible for candidate recruitment— plays a crucial role in either encouraging or discouraging women candidates to run for office. Using an original data set that includes constituency-level information for all parties and candidates in the 2004 and 2006 Canadian national elections, the authors find support for this proposition. Women candidates are more likely to be nominated when the gatekeeper—the local party president—is a woman rather than a man. The results underline the importance of informal factors for understanding women’s political underrepresentation.
The prevalence of childhood overweight/obesity and the epidemic changes in 1985–2000 for Chinese school‐age children and adolescents

This paper describes the nationwide prevalence of childhood overweight/obesity in Chinese urban population. Data sets of boys and girls aged 7–18 yrs were collected from the series of Chinese national surveillance on students' constitution and health between 1985 and 2000 were divided into five socioeconomic groups, while WGOC BMI‐reference was used as definitions of overweight and obesity. In 2000, the prevalence of childhood obesity/overweight in the coastal big cities, followed by that of the coastal middle/small cities, had reached the average level of the developed countries. The prevalence of obesity was low in most of the inland cities at an early stage of epidemic overweight. The epidemic manifested a gradient distribution in groups, which was closely related to socioeconomic status of the populations. A dramatic and steady increasing trend was witnessed among all sex‐age subgroups in these urban groups, and the increments in obesity/overweight are exceptionally high in recent 5 years, and the prospect of epidemic obesity in China is in no way optimistic. Preventive program should be focused on the improvement of the balance between caloric intake and energy expenditure, and interventions aimed at changing children's life styles.
Notes on state-of-the-art investigations of aerosol effects on precipitation: a critical review

There is no agreement between the results of different studies as regards quantitative and even qualitative evaluation of aerosol effects on precipitation. While some observational and numerical studies report a decrease in precipitation in polluted areas, in some other observations and numerical studies aerosol-induced precipitation enhancement was reported. This study analyses possible reasons for the discrepancy between the results. The analysis of aerosol effects on precipitation is performed using the mass and heat budgets. The analysis is concentrated on clouds and cloud systems arising in the environment with relatively high freezing level. It is shown that for such clouds aerosols increase both the generation and the loss of the condensate mass. The net effect of aerosols on the precipitation depends on the environment conditions (air humidity, buoyancy, and wind shear) as well as on the cloud type determining whether the increase in the condensate generation or in the condensate loss will dominate with increase in the aerosol concentration. In the case when the loss increases more than the generation, a decrease in precipitation will take place. If the increase in the condensate generation dominates, an increase in precipitation will take place. A classification scheme of aerosol effects on precipitation is proposed and its relation to the observational and numerical results available is analysed. Possible reasons for the uncertainties and discrepancies of the numerical results, as well as between measurements, are analysed. A discussion of unsolved problems is presented in the conclusion.
Delegation of Regulatory Powers in a Mixed Polity

It is a common place of academic and political discourse that the ECIEU, being neither a parliamentary democracy nor a separation-of-powers system, must be a sui generis polity. Tocqueville reminds us that the pool of original and historically tested constitutional models is fairly limited. But however limited, it contains more than the two systems of rule found among today's democratic nation states. During the three centuries preceding the rise of monarchical absolutism in Europe, the prevalent constitutional arrangement was 'mixed government' - a system characterised by the presence in the legislature of the territorial rulers and of the 'estates' representing the main social and political interests in the polity. This paper argues that this model is applicable to the EC, as shown by the isomorphism of the central tenets of the mixed polity and the three basic Community principles: institutional balance, institutional autonomy and loyal cooperation among European institutions and Member States. The model is then applied to gain a better understanding of the delegation problem. As is well known, a crucial normative obstacle to the delegation of regulatory powers to independent European agencies is the principle of institutional balance. By way of contrast, separation-of-powers has not prevented the US Congress from delegating extensive rule-making powers to independent commissions and agencies. Comparison with the philosophy of mixed government explains this difference. The same philosophy suggests the direction of regulatory reform. The growing complexity of EC policy making should be matched by greater functional differentiation, and in particular by the explicit acknowledgement of an autonomous 'regulatory estate'. At a time when the Commission aspires to become the sole European executive, as in a parliamentary system, it is particularly important to stress the importance of separating the regulatory function from general executive power. The notion of a regulatory estate is meant to emphasise this need.
Management accounting system implementation success: is reporting useful information sufficient?

The paper extends our knowledge of factors affecting management accounting system (MAS) implementation success. The investigation considers the link between system implementation success and the attainment of MAS objectives in a context where the system was designed by its intended users. The information collected for the study includes interviews, internal documents and accounting reports as well as data from questionnaires administered prior to and following the MAS implementation within a large global organisation. The study reveals that users identified objectives of the system in terms of both accounting information output and managerial impact based on use of the information. The accounting information output objectives were found to have been achieved. However, significant variances existed in the attainment of several managerial impact objectives. The study indicates that the existence of both information output as well as managerial outcomes can be regarded as objectives of a MAS and that these affect perceived implementation success.
THE GENDER ASSET GAP: WHAT DO WE KNOW AND WHY DOES IT MATTER?

Abstract Is there a gender asset gap? This article examines the evidence available on the distribution of wealth by gender around the world and asks why we do not know more. One of the contributions of feminist economics has been to demonstrate that household and individual welfare are not necessarily the same. However, relatively little work has been done that disaggregates the ownership of assets within the household to determine how asset distribution affects the gendered pattern of wealth ownership overall or how it impacts household decisions and women's well-being. As an initial step in this project, a number of factors are examined that affect women's ability to accumulate wealth, with emphasis on marital and inheritance regimes. Finally, the myriad ways in which the gender distribution of wealth is important are discussed.
Reducing overestimation in reported mobile phone use associated with epidemiological studies

Case‐control studies of mobile phones are commonly based on retrospective, self‐reported exposure information, which are often characterized as involving substantial uncertainty concerning data validity. We assessed the validity of self‐reported mobile phone use and developed a statistical model to account for the over‐reporting of exposure. We collected information on mobile phone use from 70 volunteers using two sources of data: self‐report in an interview and network operator records. We used regression models to obtain bias‐corrected estimates of exposure. A correlation coefficient of 0.71 was obtained between the self‐reported and the network operators' data on average calling time (log‐transformed minutes per month). A simple linear regression model, where the duration of calls acquired from network operators is explained with the self‐reported duration fitted the data reasonably well (adjusted R2 0.51). The constant term was 2.71 and the regression coefficient 0.49 (logarithmic scale). No significant improvement in the model fit was achieved by including potential predictors of accuracy in self‐reported exposure estimates, such as the pattern of mobile phone use, the modality of response to the questionnaire or demographic characteristics. Overestimation in self‐reported intensity of mobile phone use can be accounted for by the use of regression calibration. The estimates obtained in our study may not be applicable in other contexts, but similar methods could be used to reduce bias in other studies. Bioelectromagnetics 29:559–563, 2008. © 2008 Wiley‐Liss, Inc.
Gerenciamento de resultados em cooperativas de crédito no Brasil

O cooperativismo de credito tem demonstrado crescente importância no cenario economico do Brasil, com potencial para maior participacao de mercado, a exemplo do que ja ocorre em muitas economias desenvolvidas, desempenhando importante papel social, ao efetuar a intermediacao financeira de maneira diferenciada. As cooperativas de credito estao sujeitas as normas do Conselho Monetario Nacional e do Banco Central do Brasil, dentre elas as regras do patrimonio de referencia exigido, em linha com os acordos de Basileia, que visam estabelecer a exigencia de adequacao do patrimonio liquido das instituicoes financeiras em relacao aos riscos de seus ativos, suas operacoes e negociacoes. Neste sentido, esta pesquisa teve como foco central verificar se ha ocorrencia de praticas de gerenciamento de resultados contabeis (earnings management) para controlar a adequacao de capital em cooperativas de credito vinculadas ao sistema Sicoob, tendo como base o periodo compreendido entre o primeiro trimestre de 2001 e o terceiro trimestre de 2011. Alem do gerenciamento de resultados para controlar a adequacao de capital, situacao tratada na literatura como gerenciamento de capital, o estudo visou verificar se ha ocorrencia de gerenciamento de resultados, nas cooperativas do Sicoob, na modalidade suavizacao (income smoothing), bem como para evitar reportar perdas. Para avaliar o gerenciamento de capital e a suavizacao de resultados, a metodologia utilizada foi a analise de dados em painel, tendo em vista identificar a possivel utilizacao discricionaria das provisoes para perdas em operacoes de credito, consideradas como o principal accrual das instituicoes financeiras. A fim de avaliar o gerenciamento de resultados para evitar reportar perdas, utilizou-se a analise de distribuicao de frequencia. Os dados foram fornecidos pelo Banco Central do Brasil e as analises foram realizadas de forma a avaliar o conjunto das instituicoes estudadas, sem o proposito e a possibilidade de identificar comportamentos individualizados. Os resultados indicam que as cooperativas estudadas nao gerenciam seus resultados com o objetivo de adequacao ao capital regulatorio, ja que as variaveis utilizadas como proxy para adequacao de capital, dentre elas o indice de Basileia, nao apresentaram significância estatistica ou comportamento que evidenciasse o gerenciamento de capital. Por outro lado, com base na amostra utilizada, os resultados forneceram evidencias de ocorrencia de income smoothing por parte das cooperativas do Sicoob, uma vez que o resultado antes das despesas liquidas de provisoes apresentou sinal positivo e estatisticamente significativo para explicar as variacoes na variavel dependente, as despesas liquidas com provisoes para perdas em operacoes de credito. Por fim, constatou-se uma maior frequencia de pequenos resultados positivos quando comparada a frequencia de pequenos resultados negativos, o que fornece evidencias de gerenciamento de resultados para evitar reportar perdas por parte das instituicoes estudadas.
Paradoxes of Social Policy

Korpi and Palme’s (1998) classic “The Paradox of Redistribution and Strategies of Equality” claims that universal social policy better reduces poverty than social policies targeted at the poor. This article revisits Korpi and Palme’s classic, and in the process, explores and informs a set of enduring questions about social policy, politics, and social equality. Specifically, we investigate the relationships between three dimensions of welfare transfers—transfer share (the average share of household income from welfare transfers), low-income targeting, and universalism—and poverty and preferences for redistribution. We analyze rich democracies like Korpi and Palme, but we also generalize to a broader sample of developed and developing countries. Consistent with Korpi and Palme, we show (1) poverty is negatively associated with transfer share and universalism; (2) redistribution preferences are negatively associated with low-income targeting; and (3) universalism is positively associated with transfer share. Contrary to Korpi and Palme, redistribution preferences are not related to transfer share or universalism; and low-income targeting is neither positively associated with poverty nor negatively associated with transfer share. Therefore, instead of the “paradox of redistribution” we propose two new paradoxes of social policy: non-complementarity and undermining. The non-complementarity paradox entails a mismatch between the dimensions that matter to poverty and the dimension that matters to redistribution preferences. The undermining paradox emphasizes that the dimension (transfer share) that most reduces poverty tends to increase with the one dimension (low-income targeting) that reduces support for redistribution.