Miracle-dz/UniFAR-FTUs huggingface dataset:
Early onset ectopia lentis due to a FBN1 mutation with non‐penetrance

Isolated ectopia lentis is usually autosomal dominant and commonly due to the mutations of FBN1 gene. We report on a family with ectopia lentis. The propositus is a 6‐year‐old boy with bilateral superior‐temporal ectopia lentis. His echocardiogram was normal and he did not meet the revised Ghent criteria for Marfan syndrome. Molecular genetic testing revealed c.1948 C>T (p.Arg650Cys) in FBN1. The mother has visual acuity of 20/20 with −4.50 right eye and −2.50 left eye. She has no evidence of ectopia lentis. DNA analysis revealed that she has the same FBN1 mutation. Seven other maternal family members also have ectopia lentis. In conclusion, we report on a case of early‐onset autosomal dominant isolated ectopia lentis caused by FBN1 mutation that has previously been reported only in Marfan syndrome. The child's mother presumably represents a rare case of nonpenetrance. © 2015 Wiley Periodicals, Inc.
Determinants of the Variability of Aflatoxin–Albumin Adduct Levels in Ghanaians

Hepatocellular carcinoma (HCC) is a multifactorial disease with various host and environmental factors involved in its etiology. Of these, aflatoxin exposure has been established as an important risk factor in the development of HCC; the presence of aflatoxin–albumin (AA) adducts in the blood serves as a valuable biomarker of human exposure. In this study, the relationship between a variety of different HCC host factors and the incidence of AA adduct levels was examined in a Ghanaian population at high risk for HCC. These factors included age, gender, hepatitis virus B (HVB) and hepatitis C virus (HCV) status, and genetic polymorphisms in both microsomal epoxide hydrolase (mEH) and glutathione S-transferases (GSTs). Blood samples were analyzed for AA adducts and HBV and HCV status. GSTM1 and GSTT1 deletion polymorphisms and mEH exon 3 and exon 4 single-nucleotide polymorphisms (SNPs) were determined from urine samples. In univariate analysis, age, HBV and HVC status, and GSTT1 and mEH exon 3 genotypes were not associated with AA adduct levels. However, mean adduct levels were significantly higher in both females and individuals typed heterozygous for mEH exon 4 (vs. wild types). Stratification analysis also showed that gender along with mEH exon 4 genotype and HBV status had a significant effect on adduct levels. Both females typed HBsAg+ and males with mEH exon 4 heterozygote genotypes showed significantly higher adduct levels as compared to the HBsAg– and wild types, respectively. Understanding the relationships between these host factors and the variability in aflatoxin-adduct levels may help in identifying susceptible populations in developing countries and for targeting specific public health interventions for the prevention of aflatoxicoses in populations with HCC and chronic liver diseases.
Acute myeloid leukemia: update in diagnosis and treatment in Brazil.

OBJECTIVE To identify how the Brazilian hematology centers treated and diagnosed cases of acute myeloid leukemia in 2009. METHODS An epidemiological observational multicenter study of 11 listed Brazilian centers that treat acute myeloid leukemia and perform bone marrow transplantation. Data were collected from clinical charts of patients with acute myeloid leukemia treated at the said centers between 2005 and 2009. The availability for immunophenotyping and cytogenetic tests was assessed. RESULTS During 2009, a total of 345 new cases of acute myeloid leukemia were diagnosed. Differences were noted in the tests performed between patients who initiated treatment at the center and those referred for treatment. Of the participating centers, 72% conducted some type of molecular study in acute myeloid leukemia upon diagnosis. CONCLUSION Treatment for acute myeloid leukemia in Brazil shows significantly inferior results when compared to other centers worldwide.
Enterprise Risk Management, Corporate Governance and Firm Value: Empirical Evidence from Indonesian Public Listed Companies

The agency conflict in modern companies could be impact to firm value reducing. To solve this problem should be implemented the good corporate governance and enterprise risk management (ERM). This study aimed to test whether the ERM implementation and corporate governance can enhance shareholder value. It uses the multiple regression analysis of 110 companies for the year 2010 to 2013. Results of this study concluded that the implementation of ERM positive effect on firm value. It means that the better implementation of ERM will be followed by increasing firm value. Furthermore, the size of the board of directors is also a positive influence on firm value it implies that the greater the number of director, the more effective supervision of the company so that the company's value will increase. This study also height the positive relationship between the independent board and firm value. It indicates that the higher the proportion of independent directors on the board of a company, the better the value of the company. Instead research shows managerial ownership negative effect on the value of the company. These results contradict the agency theory which states that one of the solutions to the agency conflicts is to increase managerial ownership. Keywords: ERM, Board Size, Independent Board, Managerial Ownership, and Firm value.
The metal dependence of Bacillus subtilis phytase.

The metal ion requirement of a Bacillus subtilis phytase has been studied. Removal of metal ions from the enzyme by EDTA resulted in complete inactivation. Circular dichroism spectroscopy was used to study the effect of metal ion removal on the protein conformation. The loss of enzymatic activity is most likely due to a conformational change, as the circular dichroism spectra of holoenzyme and metal-depleted enzyme were different. Metal-depleted enzyme was partially able to restore the active conformation when incubated in the presence of calcium. Only minor reactivation was detected with other divalent metal ions and their combinations. Based on the data we conclude that B. subtilis phytase requires calcium for active conformation. Calcium has also a strong stabilizing effect on the enzyme against thermal denaturation. However, the conformational change resulted by calcium depletion does not affect the protease susceptibility.
Some peculiar properties of the MDCT

Having established the interconnection between MDCT, SDFT (shifted discrete Fourier transform) and DFT, we have successfully applied the results in audio encoder design. This paper presents some new observations and analyses: (1) MDCT is not an orthogonal transform and this has an impact on audio coding, and (2) analysis of time domain alias cancellation (TDAC) during the window switching in the case of MPEG-2 AAC. Finally, we report some experimental results on the energy compaction properties of MDCT.
Clinical and histological effects of the intrathecal administration of methylprednisolone in dogs.

BACKGROUND Methylprednisolone is one of the most commonly used steroids for management of chronic back pain via epidural injection. Its inadvertent injection into the intrathecal space is associated with complications such as adhesive arachnoiditis. OBJECTIVE The present study aimed to assess the clinical and histological changes associated with the injection of methylprednisolone into the intrathecal space of dogs. STUDY DESIGN A randomized, double blind, controlled animal trial. METHODS After approval by the animal research ethics committee, 14 dogs were studied in a randomized double blind controlled trial. They were assigned to one of 2 groups: Group I received 1 mL of 0.9% normal saline; Group II received 1 mL (1.15mg/kg) of methylprednisolone into the intrathecal space. Animals were clinically evaluated for 21 days, and then sacrificed. The lumbar and sacral portions of their spinal cords were removed for histological examination. RESULTS In Group I, there were no clinical or histological changes. All animals in Group II showed no clinical changes but all exhibited histological changes in the spinal cord. The main histological changes consisted of meningeal thickening and lymphocytic infiltrates in the blood vessels. In 3 animals, adhesion of pia, arachnoid, and dura matter was noted and the nerve roots were surrounded by fibrosis. In one animal, necrosis of the spinal cord was evident. LIMITATIONS The limitations of the present study include: small sample of animals (n=14), relative short clinical follow-up (21 days), and use of a commercially available drug solution, which is not preservative free. CONCLUSION The present study demonstrated that the intrathecal administration of commercially available methylprednisolone was responsible for causing histological changes in the spinal cord and meninges of the animals studied.
Sustainable Consumption Practices of Students through Practice-Oriented Approach of Education for Sustainable Development

Sustainable consumption practice is an effective approach to educating the younger generation in how to achieve sustainability in the future in agreement with sustainable development principles. This article aims to examine Education for Sustainable Development (ESD) knowledge and sustainable consumption practices. This study has three areas of focus, namely, (i) to study the difference between ESD knowledge and sustainable consumption practices among genders; (ii) to assess the difference between ESD knowledge and sustainable consumption practices by location; and (iii) to analyse the relationship between the variables of ESD knowledge and sustainable consumption practices. This quantitative study was conducted by using a questionnaire instrument. Two types of sampling techniques have been used, namely stratified sampling technique for the selection of schools and random sampling technique to select respondents at the selected schools. This study finds that ESD knowledge among male and female students differs, while sustainable consumption practices are the same in both genders. Next, in terms of sustainable consumption practices, there are differences between male and female students. Findings in regard to the location show that there is no difference between the school students in urban and rural areas in terms of ESD knowledge, except for the sustainable consumption practices variable, which shows significant mean differences between the groups of students from urban and rural areas. Overall, the students had acquired ESD knowledge and sustainable consumption practices. However, when examining the location of the schools, it turns out that the ESD knowledge of the students is similar but in practice the urban school students are better at implementing it. Thus, all parties, especially the schools, local communities, government agencies and non-governmental organisations can expand sustainability practices towards all levels of age and all school locations.
Automatic acquisition of probabilistic dialogue models

In the work described, we automatically deduce dialogue structures from a corpus with probabilistic methods. Each utterance in the corpus is annotated with a speaker label and an utterance type called IFT (Illocutionary Force Type). We use an ergodic HMM (hidden Markov model) and the ALERGIA algorithm, an algorithm for learning probabilistic automata by means of state merging, to model the speaker-IFT sequences. Our experiments successfully extract typical dialogue structures such as turn taking and speech act sequencing.
[Experimental research of protective and therapeutic effects of zinc and vitamin E on mouse liver radiational damage].

OBJECTIVE To study the effects of zinc and vitamin E on lipid peroxide (LPO) contents and glutathione peroxidase (GSH-Px) activities in liver homogenates of radiational damage mice. METHODS Two hundred and forty mice were divided randomly into five groups: normal control group (Group A), 60Co gamma-ray irradiator group (Group B), 60Co + zinc (Zn) group (Group C), 60Co + vitamin E(VE) group (Group D), and 60Co + Zn + VE group (Group E). After irradiated with 60Co gamma-ray 7.5 Gy, the mice were protectively treated with Zn and VE at different times. LPO contents and GSH-Px activities in liver homogenates of the mice were determined. RESULTS The level of liver LPO was significantly higher (P < 0.01), but the level of liver GSH-Px was significantly lower (P < 0.01) in Group B than those in Group A; the content of liver GSH-Px was markedly higher in Group C and Group D than that in Group B (P < 0.01), while the content of liver LPO was markedly lower in Group D than that in Group B (P < 0.05); the concentration of liver GSH-Px was markedly higher in Group E than that in Group D (P < 0.01). CONCLUSIONS VE may play an important role in lowering liver LPO contents and raising liver GSH-Px activities in radiational damage mice. vitamin E can cooperate with zinc in raising liver GSH-Px activities, stopping liver cells from lipids peroxidation and keeping integrity of liver cell membrane.
Characterization of a subset of antigen‐specific human central memory CD4+ T lymphocytes producing effector cytokines

CCR7+ central memory (TCM) CD4+ T cells play a central role in long‐term immunological memory. Recent reports indicate that a proportion of CD4+ TCM is able to produce effector cytokines. The phenotype and the role of this subset remain unknown. We characterized cytokine‐producing human CD4+ TCM specific for cleared protein and persistent viral Ag. Our results demonstrate that the type of Ag stimulation is a major determinant of CD4+ TCM differentiation. CMV‐specific TCM were significantly more differentiated than protein Ag‐specific TCM and included higher proportions of IFN‐γ‐producing cells. The expression of killer cell lectin‐like receptor G1 (KLRG1) by protein Ag‐ and CMV‐specific TCM was associated with increased production of effector cytokines. KLRG1+ TCM expressed high levels of CD127, suggesting that they can survive long term under the influence of IL‐7. The induction of KLRG1+ TCM may therefore represent an important target of vaccination against pathogens controlled by cellular immune responses.
Characterization of mtDNA Haplogroups in 14 Mexican Indigenous Populations

ABSTRACT In this descriptive study we investigated the genetic structure of 513 Mexican indigenous subjects grouped in 14 populations (Mixteca-Alta, Mixteca-Baja, Otomi, Purépecha, Tzeltal, Tarahumara, Huichol, Nahua-Atocpan, Nahua-Xochimilco, Nahua-Zitlala, Nahua-Chilacachapa, Nahua-Ixhuatlancillo, Nahua-Necoxtla, and Nahua-Coyolillo) based on mtDNA haplogroups. These communities are geographically and culturally isolated; parents and grandparents were born in the community. Our data show that 98.6% of the mtDNA was distributed in haplogroups A1, A2, B1, B2, C1, C2, D1, and D2. Haplotype X6 was present in the Tarahumara (1/53) and Huichol (3/15), and haplotype L was present in the Nahua-Coyolillo (3/38). The first two principal components accounted for 95.9% of the total variation in the sample. The mtDNA haplogroup frequencies in the Purépecha and Zitlala were intermediate to cluster 1 (Otomi, Nahua-Ixhuatlancillo, Nahua-Xochimilco, Mixteca-Baja, and Tzeltal) and cluster 2 (Nahua-Necoxtla, Nahua-Atocpan, and Nahua-Chilacachapa). The Huichol, Tarahumara, Mixteca-Alta, and Nahua-Coyolillo were separated from the rest of the populations. According to these findings, the distribution of mtDNA haplogroups found in Mexican indigenous groups is similar to other Amerindian haplogroups, except for the African haplogroup found in one population.
Major Hepatic Resection in Hepatic Hydatidosis

Background: Ecchinococcal disease is still a serious problem in certain parts of the world, with liver as the most affected organ. Surgery remains the mainstay of treatment of hydatidosis, but the optimal surgical procedure remains unsettled. Objective: Safety and efficacy of major hepatic resection in multiple and giant hepatic hydatidosis. Patients & Methods: 63 patients had hepatic hydatidosis associated with spleen, lung, and suprarenal hydatidosis were managed by major hepatic resection between April 2005 to April 2011. 43 (68%) males and 20 (32%) females, age range 8 - 56 years. Cysts were found in the liver only in 51 (81%) patients, liver with spleen in 5 (8%), liver, spleen with lung in 2 (3.1%), liver and lung in 4 (6.3%), liver and suprarenal in one patient (1.6%). Results: Multiple cysts were found in 38 (60%) and solitary cyst in 25 (40%) with Cysts diameter ≤5 cmin 22 (35%), 5 - 10 cm in 16 (25%), and 10 - 38 in 25 (40%). Right hepatectomy in 24 (38%), right trisectionectomy in 2 (3.2%), right hepatectomy with Segment III in 4 (6.3%), right hepatectomy with Segment I in 2 (3.2%), left hepatectomy in 12 (19%), left lateral sectionectomy in 6 (9.5%), left hepatectomy with Segment VI in 3 (4.8%), left lateral sectionectomy with right posterior sectionectomy in 2 (3.2%), right hepatectomy with splenectomy in 7 (11%) and right hepatectomy with right suprarenal in one (1.6%) patient were performed. Hospital stay was 4.2 (3 - 13 days) There was one mortality and 12 (19%) morbidities. No recurrence on follow up period (8 - 60 months) was observed. Conclusion: Radical procedure is safe and effective option for hepatic hydatidosis and should be performed when the entire lobe is diffusely involved by huge or multiple hydatidosis with little healthy liver tissue.
CEOs’ Characteristics and Firm Performance: A Study of Indian Firms

Abstract The centre of interest of this research article is the association between chief executive officer (CEO) characteristics and firm performance. Employing a sample of Nifty 500 firms, the support found recommends that demographic and job-related characteristics may be related with the firm’s financial performance. We consider CEO gender, duality, nationality, remuneration and education level as CEO characteristics and we employ return on assets (ROA) as a representative for firm performance. This study widens the understanding of the important function played by the CEO and provides better insight into CEO-specific variables. Specifically, the reported findings specify a positive relationship between CEO remuneration and firm performance, thus indicating that compensation acts as a good inducement for executives to yield finer firm performance while CEO nationality appears to inhibit it, steering foreign directors to a minority spot. This implies that remuneration should be more thoughtfully attached to performance, so that proficient CEOs are not lured by more tempted compensation elsewhere and the decision to engage foreign nationals to company boards must be based on norms other than the firm’s future financial performance.
Seroprevalence to Influenza A(H1N1) 2009 Virus—Where Are We?

ABSTRACT Age-specific seroprevalences for influenza virus make important contributions to estimating the burden of infection and determining the vulnerable populations. It is especially difficult to know the true clinical attack rates of the 2009 influenza A(H1N1) pandemic; however, we can estimate infection rates through analyses of seroprevalences based on national studies from different continents and countries with different demographics. After the 2009 influenza A(H1N1) pandemic, seroprevalence studies found 5 to 60% of populations across different continents and age groups having antibodies against the A(H1N1) 2009 virus. The seropositivity was highest in children and teenagers (20 to 60%) as well as in the elderly older than 80 years (20 to 40%). Preexisting cross-reactive antibodies against the virus were present mostly in sera of older people (born before 1950) who could have encountered viruses descended from the 1918 pandemic viruses. Experience with the 2009 pandemic indicates how essential early and timely serology data against the emerging virus can be for informing decisions on use of antivirals and vaccination campaigns, especially in regard to risk groups. The objectives of this review were to summarize the current data available on seroprevalence before and after the 2009 influenza A(H1N1) pandemic and the lessons learned for future pandemic preparedness.
Effect of basic fibroblast growth factor on the cellular repopulation of decellularized anterior cruciate ligament allografts

The use of decellularized anterior cruciate ligament (ACL) allografts in ACL replacement surgery may allow for the native structure of the ligament to be retained, thereby recapturing the function of the ligament post‐injury. Our previous work has focused on repopulating decellularized allograft ACL tissue with ACL fibroblasts in order to prevent destructive remodelling of the implanted tissue by extrinsic host cells. In this study, the use of basic fibroblast growth factor (bFGF) to improve the cellular repopulation of decellularized ACL tissue was assessed. A concentration of 6 ng/ml bFGF was demonstrated to be effective in increasing cellular growth in the absence of tissue; however, this concentration, as well as reduced and increased levels of bFGF (0.1 and 60 ng/ml, respectively), failed to increase cellular repopulation of ACL fibroblast‐seeded decellularized tissue after 28 days of culture. Mean repopulation levels of 11–19% of fresh tissue [3200–5300 cells/mg dry weight (dwt) tissue] were achieved after 28 days in culture. Qualitative observation of histological samples suggested that different repopulation characteristics exist at various concentrations of bFGF and, in particular, that bFGF may be stimulating a catabolic pathway resulting in matrix destruction. Significant differences in the effects of bFGF observed between cell‐only and cell‐and‐tissue studies serve to reinforce the concept that cells respond to stimuli in a different manner, depending on the surrounding environment. As a result, caution should be used when information obtained from studies utilizing cells alone is applied to the development of tissue‐engineered constructs. Copyright © 2010 John Wiley & Sons, Ltd.
Intrahippocampal injection of brain-derived neurotrophic factor increases anxiety-related, but not panic-related defensive responses: involvement of serotonin

Changes in brain-derived neurotrophic factor (BDNF)-mediated signaling in the hippocampus have been implicated in the etiology of depression and in the mode of action of antidepressant drugs. There is also evidence from animal studies to suggest that BDNF-induced changes in the hippocampus may play a role in another stress-related pathology: anxiety. However, it is still unknown whether this neurotrophin plays a differential role in defensive responses associated with distinguished subtypes of anxiety disorders found in the clinic, such as generalized anxiety and panic disorder. In the present study, we investigated the effect of an acute BDNF injection into the rat dorsal hippocampus (DH) on inhibitory avoidance acquisition and escape expression measured in the elevated T-maze (ETM). We also assessed whether serotonergic neurotransmission may account for such effects. Intra-DH BDNF injection (200 pg) facilitated inhibitory avoidance in ETM. BDNF was equally anxiogenic in the light/dark transition test. Preadministration of the 5-HT1A receptor antagonist WAY-100635 fully counteracted the anxiogenic effect of BDNF in both tests. Intra-DH midazolam administration (10 nmol) impaired avoidance acquisition in ETM, suggesting an anxiolytic effect. Therefore, in the DH, facilitation of BDNF signaling seems to enhance 5-HT1A receptor-mediated neurotransmission to exert an anxiogenic effect associated with generalized anxiety.