Miracle-dz/UniFAR-FTUs huggingface dataset:
Analysis of a non‐functional HNF‐1α (TCF1) mutation in Japanese subjects with familial type 1 diabetes

Mutations in the transcription factor hepatocyte nuclear factor‐1α (HNF‐1α; gene symbol TCF1) cause maturity‐onset diabetes of the young type 3 (MODY3), a form of diabetes mellitus characterized by autosomal dominant inheritance, early onset, and pancreatic β‐cell dysfunction. Recent genetic studies, however, also found mutations in patients diagnosed with idiopathic (non‐autoimmune based) type 1 diabetes. We identified a novel frameshift mutation (142delG) in the TCF1 gene in a family with a strong family history of type 1 diabetes and examined the functional properties of the mutant HNF 1α. The expression of the mutant protein was not detected in COS‐7 cells by Western blot analysis after transfection of the mutant cDNA. This is the first case of an unstable mutant HNF‐1α protein. Reporter gene analysis indicated that the mutant HNF‐1α had no transactivation activity in HeLa and MIN6 cells. Haploinsufficiency for HNF‐1α may lead to severe forms of diabetes like type 1 diabetes. Hum Mutat 18:345–351, 2001. © 2001 Wiley‐Liss, Inc.
Determining the sensitivity of sitting height in predicting cephalo pelvic disproportion in Eritrea

To determine the sensitivity of sitting height in predicting cephalo pelvic disproportion (CPD), a prospective case-control study was conducted. A total of 724 primiparas who delivered in Mekane Hiwot Maternity Hospital, Asmara, Eritrea were studied. Primiparas who delivered by caesarian section because of CPD were taken as cases (221), and primiparas who delivered vaginally were taken as controls (503). Height was measured for all, while sitting and while standing. The sensitivity of sitting height in predicting CPD was 34.1% (95% confidence interval [CI] = 27.7-40.3%), while that of the standing height was 33.5% (95% CI = 27.1-39.84). CPD cannot be predicted accurately by height in general and by sitting height in particular. Therefore, in order to avoid obstetric complications, all pregnant women should have access to skilled attendance during delivery and access to facilities with emergency obstetric care when needed.
Clinical Utility of Traditional and New Tests in the Diagnosis of Biceps Tendon Injuries and Superior Labrum Anterior and Posterior Lesions in the Shoulder

Background Clinical tests are a key element in diagnosing shoulder lesions. Purpose This study examined the clinical utility of traditional and new examination tests, the upper cut for biceps injuries, and the modified dynamic labral shear for superior glenoid labral lesions. Study Design Cohort study (Diagnosis); Level of evidence, 2. Methods A total of 325 consecutive patients who were seen for shoulder pain underwent a standardized clinical testing battery. Six clinical tests that have been previously reported in the literature (Yergason's, Speed's, bear hug, belly press, O'Brien's, and anterior slide) and 2 new examination tests (upper cut and modified dynamic labral shear) were performed. Clinical examination findings were correlated with findings in those who came to surgery (101 patients). Sensitivity, specificity, accuracy, positive/ negative predictive value, and positive/negative likelihood ratio were calculated for each test. A binary logistic regression analysis was used to determine which tests produced the most significant findings. Results For biceps disease, the bear hug and upper cut were most sensitive (0.79 and 0.73, respectively), whereas the belly press and Speed's test were most specific (0.85 and 0.81, respectively). The upper cut was most accurate (0.77) and produced the highest positive likelihood ratio (3.38). For labral injury, the modified dynamic labral shear demonstrated sensitivity of 0.72, specificity of 0.98, accuracy of 0.84, and a positive likelihood ratio of 31.57. A binary logistic regression analysis revealed that the combination of the upper cut and Speed's tests were significantly better at detecting biceps lesions (P = .021, R2 = .400) than other tests, whereas labral lesions were best identified by combination of the modified dynamic labral shear and O'Brien's maneuvers (P = .045, R2 = .641). Conclusion The new tests are helpful additions to the clinical examination for shoulder injury. The modified dynamic labral shear test demonstrates high scores for clinical utility and exhibits a high likelihood ratio, indicating a significant probability of affecting the clinical decision, which should moderately or significantly improve the diagnostic conclusion and allow the clinician to be more efficient in making an accurate diagnosis.
Advanced techniques in magnetic resonance imaging in the evaluation of the large endolymphatic duct and sac syndrome

The purpose of this report is to compare temporal bone computed tomography (CT) to high‐resolution magnetic resonance (MR) imaging using a novel thin‐section fast spin echo (FSE) pulse sequence in identifying and characterizing patients with large vestibular aqueduct syndrome. Sixteen patients with sensorineural hearing loss and a CT diagnosis of large vestibular aqueduct(s) underwent high‐resolution fast spin echo magnetic resonance imaging with dual, 3‐in phased array receiver coils centered over the external auditory canals. Magnetic resonance imaging parameters included axial and oblique sagittal fast spin echo with an effective slice thickness of 1 mm contiguous. Thirty‐eight patients with 76 normal inner ears who underwent MR imaging using this technique had their endolymphatic duct measured.
High-resolution CT findings in mild pulmonary fat embolism.

OBJECTIVE The aim of this article is to describe the high-resolution CT (HRCT) findings in mild cases of fat embolism syndrome (FES). MATERIAL AND METHODS Nine patients with FES were examined with HRCT of the lungs (collimation, 1 mm/edge-enhancement algorithm). The median age of the patients was 26 years (range, 17 to 35 years). Five cases were included prospectively, and four cases were reviewed retrospectively. Of the major clinical criteria for FES, respiratory signs were present in six patients, CNS signs were present in two patients, and petechiae was present in six patients. HRCT patterns were recorded and analyzed. The type of injury and FES-associated clinical findings were also recorded. RESULTS HRCT findings included ground-glass opacities in seven patients, associated with thickened interlobular septa in five patients and a patchy distribution resulting in a geographic appearance in four patients. A nodular pattern was observed in two patients. Resolution of the abnormalities occurred within 16.4 days (range, 7 to 25 days). CONCLUSION The HRCT findings of mild fat embolism consist of bilateral ground-glass opacities and thickening of the interlobular septa. Centrilobular nodular opacities are present in some patients.
Long Run and Short Run Relationship among Gross Domestic Saving, Net Bilateral Foreign Aid, External Debt and Economic Growth in Pakistan

This study attempt to establish the long run and short run association among Economic Growth, Foreign Aid, Domestic Saving and External Debt in case of Pakistan for the period of 1980 to 2014. This study uses Gross Domestic Product (GDP) as Dependent Variable followed by Foreign Aid, Domestic Saving and External Debt as explanatory variable. To find the long run and short run association amongst the variables, this study uses Autoregressive Distributive Lags Model (ARDL) and Error Correction Mechanism (ECM). The findings suggest that there exist negative relationship between economic growth and foreign Aid in the long run, while in short run this study found positive association. However, Domestic saving shows negative relationship in the short run while positive relationship with economic growth in the long run. Moreover, external debt displays negative relationship with economic growth equally in long and short run in case of Pakistan.
Epigenetics in development

It has become increasingly evident in recent years that development is under epigenetic control. Epigenetics is the study of heritable changes in gene function that occur independently of alterations to primary DNA sequence. The best‐studied epigenetic modifications are DNA methylation, and changes in chromatin structure by histone modifications, and histone exchange. An exciting, new chapter in the field is the finding that long‐distance chromosomal interactions also modify gene expression. Epigenetic modifications are key regulators of important developmental events, including X‐inactivation, genomic imprinting, patterning by Hox genes and neuronal development. This primer covers these aspects of epigenetics in brief, and features an interview with two epigenetic scientists. Developmental Dynamics 236:1144–1156, 2007. © 2007 Wiley‐Liss, Inc.
Retrospective survey of surgical outcomes on rhegmatogenous retinal detachments associated with atopic dermatitis.

OBJECTIVE To determine the clinical features and surgical outcomes of retinal detachment associated with atopic dermatitis. METHODS One hundred twenty-one eyes of 98 patients with atopic dermatitis and rhegmatogenous retinal detachment were surgically treated and followed up for 1 year or longer. Fundus examination data on retinal breaks and detachment, and follow-up data on anatomic reattachment were obtained and compared between phakic and aphakic eyes using the chi 2 test. RESULTS Breaks were often multiple and located at the ora serrata (72%) and in the ciliary epithelium (15%). Irregularly shaped breaks (13.5%) and giant breaks (16%) also were seen. Most detachments (71%) were localized and shallow. No significant difference was identified with or without a history of cataract surgery. The prognosis after the initial surgery (reattachment rate, 72%) was unfavorable because of new break formation, but the results of reoperation (reattachment rate, 93%) were as successful. CONCLUSIONS Patients with atopic dermatitis may have an abnormality in the anterior retina and ciliary epithelium that predisposes to retinal detachment. Findings suggest a possible traumatic trigger and the need to perform an encircling scleral buckle procedure with widespread retinopexy initially in these patients.
Do HPV‐negative cervical carcinomas exist?—revisited

There has been considerable debate regarding the existence of HPV‐negative cervical carcinoma. In this issue of the journal, using well‐controlled methodology, Walboomers et al. demonstrate that HPV DNA is present in almost all invasive carcinomas in a large multinational study. This indicates that HPV‐negative carcinoma is extremely uncommon, if it exists at all. It also implies that HPV testing, if optimally applied, is capable of a sensitivity approaching 100 per cent. This has significant implications for cervical screening. Copyright © 1999 John Wiley & Sons, Ltd.
The differential effects of FTY720 on functional recovery and infarct size following myocardial ischaemia/ reperfusion

Summary Aim The aim of this study was to evaluate the effects of the sphingosine analogue, FTY720 (Fingolimod), on the outcomes of myocardial ischaemia/reperfusion (I/R) injury. Methods Two concentrations of FTY720 (1 or 2.5 μM) were administered either prior to (PreFTY), or following (PostFTY) 20 minutes’ global (GI) or 35 minutes’ regional ischaemia (RI) in the isolated, perfused, working rat heart. Functional recovery during reperfusion was assessed following both models of ischaemia, while infarct size (IFS) was determined following RI. Results FTY720 at 1 μM exerted no effect on functional recovery, while 2.5 μM significantly impaired aortic output (AO) recovery when administered prior to GI (% recovery: control: 33.88 ± 6.12% vs PreFTY: 0%, n = 6–10; p < 0.001), as well as before and after RI (% recovery: control: 27.86 ± 13.22% vs PreFTY: 0.62%; p < 0.05; and PostFTY: 2.08%; p = 0.0585, n = 6). FTY720 at 1 μM administered during reperfusion reduced IFS [% of area at risk (AAR): control: 39.89 ± 3.93% vs PostFTY: 26.56 ± 4.32%, n = 6–8; p < 0.05), while 2.5 μM FTY720 reduced IFS irrespective of the time of administration (% of AAR: control: 39.89 ± 3.93% vs PreFTY: 29.97 ± 1.03%; and PostFTY: 30.45 ± 2.16%, n = 6; p < 0.05). Conclusion FTY720 exerted divergent outcomes on function and tissue survival depending on the concentration administered, as well as the timing of administration.
What drives differences of opinion in sovereign ratings? The roles of information disclosure and political risk

This paper investigates the causes of split sovereign ratings across S&P, Moody's, and Fitch for 64 countries from 1997 to 2011. We identify that split sovereign ratings are not symmetric, with S&P tending to be the most conservative agency. We find that opaque sovereigns are more likely to receive split ratings. Political risk plays a highly significant role in explaining split ratings and dominates economic and financial indicators. Out-of-sample model performance is enhanced by capturing political risk. Government information disclosure affects split ratings between Moody's and Fitch in emerging countries. The study implies an incentive for governments to reduce political uncertainty and to enhance transparency.
Impact of Current Management Practices on Early and Late Death in More Than 500 Consecutive Cardiac Transplant Recipients

ObjectiveTo study risk factors for early and late death after heart transplantation in the current era. Summary Background DataThe current cardiac transplant population differs from earlier periods in that an increasing number of sicker patients, such as those with ventricular assist device (LVAD) support, prior cardiac allotransplantation, and pulmonary hypertension, are undergoing transplantation. In addition, sensitized patients constitute a greater proportion of the transplanted population. Emphasis has been placed on therapies to prevent early graft loss, such as the use of nitric oxide and improved immunosuppression, in addition to newer therapies. MethodsFive hundred thirty-six patients undergoing heart transplantation between 1993 and 1999 at a single center were evaluated (464 adults and 72 children; 109 had received prior LVAD support and 24 underwent retransplantation). The mean patient age at transplantation was 44.9 years. Logistic regression and Cox proportional hazard models were used to evaluate the following risk factors on survival: donor and recipient demographics, ischemic time, LVAD, retransplantation, pretransplant pulmonary vascular resistance, and immunologic variables (ABO, HLA matching, and pretransplant anti-HLA antibodies). ResultsThe rate of early death (less than 30 days) was 8.5% in adults and 8.8% in children. The actuarial survival rate of the 536 patients was 83%, 77%, and 71% at 1, 3, and 5 years, respectively, by Kaplan Meier analysis. Risk factors adversely affecting survival included the year of transplant, donor age, and donor-recipient gender mismatching. Neither early nor late death was influenced by elevated pulmonary vascular resistance, sensitization, prior LVAD support, or prior cardiac allotransplantation. ConclusionsPreviously identified risk factors did not adversely affect short- or long-term survival of heart transplant recipients in the current era. The steady improvement in survival during this period argues that advances in transplantation have offset the increasing acuity of transplant recipients.
Adhesion to and invasion of HEp-2 cells by Campylobacter spp

Twenty-one isolates were tested for their ability to adhere to and invade HEp-2 cells in vitro. Of the 21 organisms tested, 2 did not invade the HEp-2 cells, and 1 of these did not adhere to the epithelial cells. Campylobacter jejuni clinical isolates were more invasive than the nonclinical strains that were tested. When HEp-2 cells were treated with cytochalasin B, the invasiveness of C. jejuni was reduced, indicating active participation of the host cell in the uptake of these organisms. The number of intracellular C. jejuni isolates decreased when Campylobacter whole-cell lysates were absorbed onto HEp-2 cell monolayers. Experiments were also conducted to identify the functional sites of the antigens responsible for expression of Campylobacter invasion. Oxidation of lysates with sodium meta-periodate significantly affected its inhibitory capacity. This implies that the Campylobacter invasive ligand appears to be dependent upon an intact carbohydrate moiety.
Pure alexia from a posterior occipital lesion

The authors report a patient with pure alexia (letter-by-letter reading) selectively impaired for kana (Japanese phonograms), cerebral achromatopsia, and right lower quadrantanopsia after hemorrhage in the left posterior occipital lobe, mainly under the lateral occipital gyri. The patient also could not recognize some single-character kana, nor could he discriminate between two shapes of a similar size. The authors believe that the posterior occipital lobe, including the lateral occipital gyri, is specialized to recognize kana characters in this patient.
Relation between start-ups’ online social media presence and fundraising

Purpose The purpose of this study is to examine the emergences of social media such as Facebook, Twitter and Instagram have changed the way human beings communicate and interact. In the past few years, this has become crucial in the context of business, especially in start-up fund raising. Access to venture capital financing is a crucial issue in the entrepreneurial finance literature. To further explore the use of social media for entrepreneurs, the authors have explored how entrepreneurs use social media for fund-raising purposes. The authors have used Application Programming Interfaces (APIs) to collect entrepreneurs’ funding data from Crunchbase and entrepreneurs’ social media data from Facebook and Twitter. The results show that social media is significant for start-ups in their success or failure in fund raising. Investing energy into utilizing online social media and exhausting these platforms consciously contributes to the financial success of start-ups. Therefore, start-ups which are popular among online fans and followers can manage to raise larger amounts of funding in the early stages. Design/methodology/approach This research relies on a wide range of quantitative data, which was obtained from three different online sources which includes Facebook, Twitter and CrunchBase. The use of a variety of internet technologies have been linked to increases in individuals’ social network diversity, which likely increases access to social capital at the individual level (Hampton and Wellman, 2003). The dataset was retrieved by using APIs, which enables the collection of novel metrics, from various sources that provide a well-structured dataset (Priem and Hemminger, 2010). Hypotheses were tested on a longitudinal dataset from 2000 to 2013, comprising general and investment data and social media metrics of start-ups. First, a sample from the database was selected to ensure data availability and reliability. After sampling, all the selected companies’ Twitter and Facebook activities were observed and metrics were analysed. SPSS was used to conduct correlation and regression analyses. Findings This study analysed whether start-ups’ social media convention is able to influence investors’ choices, especially the amount of total funding given. The paper showed that innovative start-up companies were able to benefit from communicating on social media platforms. Start-ups, which were using Facebook and Twitter effectively, focusing on valuable social media metrics, received larger amount of funding in total. Furthermore, it was observed that as their business grew, they intended to put more effort into online social networking. It confirmed the idea that businesses are using social media consciously. Originality/value This is the only paper that the authors could find that examines the relationship between fundraising and activity on social networks.
The Impact of IT Investment Announcements about Y2K Compliance on the Firm's Market Value

Do IT investments add value to firms? Famously, Carr (2003) argued “No”. Increasingly, the evidence is a resounding “Yes” (Dehning et al. 2003). However, under what conditions do these investments make an impact? This underpins the research aim of this paper to improve the understanding of how IT investment announcements affect the value of firms. To achieve this aim, this study will answer this research question “How do IT investment announcements regarding Y2K compliance affect the market value of companies? ” The study will examine and extend current knowledge by proposing an enriched research model. It will then use the event study methodology to test this model assuming a semi-strong market hypothesis. Through the observed abnormal returns, causal relationships will be able to be seen between the variables and their respective market reaction. This will provide conclusions on the variables that influence investor interpretation of a signal, and therefore market reaction.
Probability and Risk: Foundations and Economic Implications of Probability Weighting

A large body of evidence has documented that risk preferences depend nonlinearly on outcome probabilities. We discuss the foundations and economic consequences of probability-dependent risk preferences and offer a practitioner's guide to understanding and modeling probability dependence. We argue that probability dependence provides a unifying framework for explaining many real-world phenomena, such as the equity premium puzzle, the long-shot bias in betting markets, and households' underdiversification and their willingness to buy small-scale insurance at exorbitant prices. Recent findings indicate that probability dependence is not just a feature of laboratory data, but is indeed manifest in financial, insurance, and betting markets. The neglect of probability dependence may prevent researchers from understanding and predicting important phenomena.
HLA-E/Human &bgr;2-Microglobulin Transgenic Pigs: Protection Against Xenogeneic Human Anti-Pig Natural Killer Cell Cytotoxicity

Background. Natural killer (NK) cells participate in pig-to-primate xenograft rejection both by antibody-dependent and -independent mechanisms. A majority of human NK cells express the inhibitory receptor CD94/NKG2A, which binds specifically to human leukocyte antigen (HLA)-E, a trimeric complex consisting of the HLA-E heavy chain, &bgr;2-microglobulin (&bgr;2m), and a peptide derived from the leader sequence of some major histocompatibility complex class I molecules. Methods. To use this mechanism for protection of pig tissues against human NK cell-mediated cytotoxicity, we generated transgenic pigs by pronuclear microinjection of genomic fragments of HLA-E with an HLA-B7 signal sequence and of human &bgr;2-microglobulin (hu&bgr;2m) into zygotes. Results. Three transgenic founder pigs were generated. Northern blot analysis of RNA from peripheral blood mononuclear cells revealed the presence of the expected transcript sizes for both transgenes in two of the three founders. The founder with the highest expression and his offspring were characterized in detail. Fluorescence-activated cell sorting (FACS) and Western blot analyses demonstrated consistent expression of HLA-E and hu&bgr;2m in peripheral blood mononuclear cells. Immunohistochemistry revealed the presence of HLA-E and hu&bgr;2m on endothelial cells of many organs, including heart and kidney. In vitro studies showed that lymphoblasts and endothelial cells derived from HLA-E/hu&bgr;2m transgenic pigs are effectively protected against human NK cell-mediated cytotoxicity, depending on the level of CD94/NKG2A expression on the NK cells. Further, HLA-E/hu&bgr;2m expression on porcine endothelial cells inhibited the secretion of interferon (IFN)-&ggr; by co-cultured human NK cells. Conclusions. This novel approach against cell-mediated xenogeneic responses has important implications for the generation of multitransgenic pigs as organ donors for clinical xenotransplantation.