Miracle-dz/UniFAR-FTUs huggingface dataset:
Molecular analysis in newborns from Texas affected with galactosemia

The spectrum of mutations in the Galactose‐1‐phosphate uridyl transferase (GALT) gene is described in 11 cases of classic galactosemia and 38 of Duarte‐2 type identified by the Texas Newborn Screening Program. Blinded studies were done by automated DNA sequencing of all the 11 exons and the exon‐intron boundaries of the GALT gene using genomic DNA isolated from dry blood spots. Fourteen different mutations (11 missense mutations, 2 nonsense mutations and 1 splicing mutation) were detected in 94 of the 98 mutant alleles (diagnostic efficiency of 96%). The prevalent mutations were N314D (41%), Q188R (37%) and K285N (4%). The other less frequent mutations were IVS2‐2A>G and S135L (3% each), T138M (2%) and T23A, H184Q, Y251S, L195P, Q207X, L264X, Q344K, and A345D (1% each). Three novel mutations, T23A, Q207X, and A345D, were identified. Our study supports previous findings that N314D and Q188R are prevalent in Hispanics and Whites and K285N was only observed in Whites. The IVS2‐2A‐>G mutation is probably ethnic specific because it was identified exclusively in Hispanics. S135L, a prevalent mutation in Blacks, was also present in 3 Hispanics. Two unusual genotypes were observed in 2 patients homozygous for the Duarte‐2 N314D allele and heterozygous for a novel mutation (Q207X‐ N314D/N314D in a classic galactosemia and T23A‐ N314D/N314D in a Duarte‐2 case). The detection of GALT gene mutations in newborns from Texas should focus first on N314D, Q188R, K285N, IVS2‐2A>G, S135L and T138M. Other exons and exon‐intron boundaries would have to be studied if either one or no mutations are found in the primary screening. © 2001 Wiley‐Liss, Inc.
Selective inhibition of the platelet phosphoinositide 3-kinase p110β as promising new strategy for platelet protection during extracorporeal circulation

Summary Extracorporeal circulation (ECC) is used in cardiac surgery for cardiopulmonary bypass as well as in ventricular assist devices and for extracorporeal membrane oxygenation. Blood contact with the artificial surface and shear stress of ECC activates platelets and leukocytes resulting in a coagulopathy and proinflammatory events. Blockers of the platelet glycoprotein (GP) IIb/IIIa (CD41/CD61) can protect platelet function during ECC, a phenomenon called “platelet anaesthesia”, but may be involved in post-ECC bleeding. We hypothesized that the new selective phosphoinositide 3-kinase p110β inhibitor TGX-221 that inhibits shear-induced platelet activation without prolonging the bleeding time in vivo may also protect platelet function during ECC. Heparinized blood of healthy volunteers (n=6) was treated in vitro with either the GP IIb/IIIa blocker tirofiban, TGX-221 or as control and circulated in an ECC moand after 30 minutes circulation CD41 expression on the ECCtubing as measure for platelet-ECC binding and generation of the platelet activation marker β-thromboglobulin were determined using ELISA. Platelet aggregation and platelet-granulocyte binding were analysed in flow cytometry. After log-transforming the data statistical evaluation was performed using multifactor ANOVA in combination with Tukey’s HSD test (global alpha = 5%). Tirofiban and TGX-221 inhibited platelet-ECC interaction, platelet aggregation and platelet-granulocyte binding. Tirofiban also inhibited ECC-induced β-thromboglobulin release.The observed inhibition of platelet-ECC interaction and platelet activation by tirofiban contributes to explain the mechanism of“platelet anaesthesia”. TGX-221 represents a promising alternative to GP IIb/IIIa blockade and should be further investigated for use during ECC in vivo.
The relationship of dietary intake and serum levels of retinol and beta‐carotene with breast cancer. Results of a case‐control study

The possible association between the risk of breast cancer, blood level, and dietary intake of preformed Vitamin A (retinol) and beta‐carotene was investigated in a case‐control study carried out from May 1982 to June 1985. The patients studied were 214 previously untreated individuals with T1‐2, N0‐1, M0 breast cancer admitted to the National Cancer Institute of Milan and 215 controls admitted for conditions other than neoplastic or metabolic disorders. Both cases and controls were selected from an age group ranging from 30 to 65 years old. Plasma levels of retinol and beta‐carotene were tested from blood samples drawn during the first day after admission to the hospital. A questionnaire about diet was used to estimate the mean intake of 69 food items from which a daily dietary index of retinol and beta‐carotene intake was computed. Information relating to the woman's history, socioeconomic status, and known risk factors for breast cancer was also collected. No association was found between beta‐carotene (in the diet or blood) or dietary retinol and the risk of breast cancer. As for blood retinol, our data show a significant trend of increasing risk with higher levels; multivariate relative risk for subsequent serum levels based on the control quintiles, are 1, 1.5, 1.8, 1.7; (test for linear trend: chi‐square = 8.26). Thus, these findings, together with the results of other studies,47,48 suggest that retinol and beta‐carotene are unlikely to be related to the risk of breast cancer.
Sex and Race-Ethnicity Secular Trends in Mean and Elevated Red Blood Cell Distribution Width Among Adults in the United States, 1999-2012.

OBJECTIVE Red blood cell distribution width (RDW) has been shown to associate with increased risk of cardiovascular and non-cardiovascular death. To our knowledge, no study has examined secular trends in RDW over the last decade. DESIGN Serial cross-sectional design. SETTING Data from the National Health and Nutrition Examination Survey (NHANES), 1999-2012, were used. PATIENTS 34,171 adults. MAIN OUTCOME MEASURES RDW was assessed from a blood sample derived from the coefficient of variation of the red cell volume distribution histogram and reported as a percent. Elevated RDW was defined as an RDW > 14.6%. RESULTS The overall age-adjusted mean RDW increased progressively and significantly (P<.05) from 12.59% in 1999-2000 to 12.89% in 2011-2012. The overall age-adjusted prevalence of elevated RDW increased progressively and significantly (P<.05) from 4.01% in 1999-2000 to 6.25% in 2011-2012. Statistically significant increases over this time period also occurred among non-Hispanic White women, non-Hispanic Black men and women, and Mexican American men and women. Across all sex and race-ethnicity combinations, women, compared with men, had higher RDW and larger increases over time in mean and elevated RDW. CONCLUSIONS Mean and elevated RDW has progressively increased from 1999-2012 among adults in the United States, with increases observed among non-Hispanic Whites, Blacks, and Mexican Americans. Future research is needed to describe the determinants and implications of this RDW rise, as well as explanations for why a greater RDW change has occurred among women.
Midterm and long-term follow-up of cerebral aneurysms treated with flow diverter devices: a single-center experience.

OBJECT The introduction of flow diverter devices is revolutionizing the endovascular approach to cerebral aneurysms. Midterm and long-term results of angiographic, cross-sectional imaging and clinical follow-up are still lacking. The authors report their experience with endovascular treatment of intracranial aneurysms using both the Pipeline embolization device and Silk stents. METHODS From October 2008 to July 2011 a consecutive series of 104 intracranial aneurysms in 101 patients (79 female, 22 male; average age 53 years) were treated. Three of the 104 aneurysms were ruptured and 101 were unruptured. Silk stents were implanted in 47 of the aneurysms and Pipeline stents in the remaining 57. In 14 cases a combination of flow diverter devices and coils were used to treat larger aneurysms (maximum diameter > 15 mm). Patients underwent angiographic follow-up examination at 6 months after treatment, with or without CT or MRI, and at 1 year using CT or MRI, with or without conventional angiography. RESULTS In all cases placement of flow diverter stents was technically successful. The mortality and morbidity rates were both 3%. Adverse events without lasting clinical sequelae occurred in 20% of cases. Angiography performed at 6 months after treatment showed complete aneurysm occlusion in 78 of 91 cases (86% of evaluated aneurysms) and subocclusion in 11 (12%); only in 2 cases were the aneurysms unchanged. Fifty-three aneurysms were evaluated at 1 year after treatment. None of these aneurysms showed recanalization, and 1 aneurysm, which was incompletely occluded at the 6-month follow-up examination, was finally occluded. Aneurysmal sac shrinkage was observed in 61% of assessable aneurysms. CONCLUSIONS Parent artery reconstruction using flow diverter devices is a feasible, safe, and successful technique for the treatment of endovascular treatment of cerebral aneurysms.
Mycoplasma pneumoniae in Hamster Tracheal Organ Culture: Immunofluorescent and Electron Microscopic Studies 1

Summary These studies illustrate the applicability of a tracheal organ culture system for the study of Mycoplasma pneumoniae infection at the cellular level. The results of immunofluorescence and electron microscopy indicate an intimate association of M. pneumoniae and the ciliated epithelial cell membrane. While M. pneumoniae appeared able to break down terminal bars and enter the intercellular spaces no evidence of intracellular localization was seen. These findings provide additional insight into the pathogenicity of M. pneumoniae.
Why do software developers practice test-driven development?

Test driven development (TDD) is a crucial phase for any software developer. Most software developers using TDD observed an increase in software quality and reduced defects in the software. For that reason, it is our belief that it is critical to understand factors influencing software developers' intention to perform TDD. The Theory of Planned Behaviour (TPB) proposes that intention to perform behaviour is influenced by three factors: attitude towards the behaviour, subjective norm, and perceived behavioural control. The article reveals how the model is tested based on data collected from an online survey distributed around the world. This psychographic study showed that data collected does not conform to the model, and recommendations are made for a future study to form a more comprehensive model.
An enhanced cut-points algorithm in formal equivalence verification

BDD-based cut-points verification is widely used informal verification. The authors have recently developed a cut-points verification algorithm that is unique in that it avoids generation of false-negatives and allows simplification of the circuits to be compared based on reconvergence of input variables. Here we describe several refinements and enhancements that lead both to drastic speedup as well increase in capacity. These methods are already implemented in Intel's combinational verifier CLEVER and show very promising results on real life examples from the pentium design family.
Bacterial translocation is bacterial species dependent: results using the human Caco-2 intestinal cell line.

BACKGROUND Because of in vivo limitations, the mechanisms underlying the process of bacterial translocation are poorly understood. Thus, an in vitro model system to study the translocation process was developed. METHODS Transformed human colonic carcinoma (Caco-2) intestinal cells were grown as a polarized monolayer on semi-permeable membranes contained in the upper compartment of a two-compartment system. Once the Caco-2 monolayer had reached confluence, the ability of six different species of bacteria to translocate across the monolayer was tested using a dose-response curve of bacteria (10(2), 10(4), or 10(6)) organisms. RESULTS At inocula of 10(4) or 10(6) but not 10(2) organisms, bacteria crossed the monolayer. Bacterial passage across the monolayer was bacterial species specific, with gram-negative enterics being the best, gram-positive aerobes being intermediate translocators, and strict anaerobes being the poorest translocators. CONCLUSION The results of this study indicate that bacteria translocate across the Caco-2 monolayer in a dose-dependent and species-related fashion and support the use of this in vitro epithelial cell culture system as a model for studying bacterial transport.
Treating adults with acute lymphocytic leukemia: new pharmacotherapy options

ABSTRACT Introduction: Advances in acute lymphocytic leukemia (ALL) therapy has led to long-term survival rates in children. However, only 30%-40% of adults achieve long-term disease-free survival. After relapse, the outcome of salvage chemotherapy is very disappointing with less than 10% of long survival. Novel agents are therefore desperately required to improve response rates and survival, but also the quality of life of patients. Areas covered: The following review is a comprehensive summary of various novel options reported over the past few years in the therapeutic area of adult ALL. Expert opinion: Identifying key components involved in disease pathogenesis may lead to new approaches. In a near future, the incorporation of monoclonal antibodies and T-cell directed approaches including blinatumomab and chimeric antigen receptor T cells may increase the cure rates and may reduce the need for intensive therapy.
Relationships among NANDA-I diagnoses, nursing outcomes classification, and nursing interventions classification by nursing students for patients in medical-surgical units in Korea.

PURPOSE The purpose of this study was to identify NANDA-I, Nursing Outcomes Classification (NOC), and Nursing Interventions Classification (NIC; NNN) linkages used by Korean nursing students during their clinical practice in medical-surgical units. METHODS A comparative descriptive research design was used to measure the effects of nursing interventions from 153 nursing students in South Korea. Nursing students selected NNN using a Web-based nursing process documentation system. Data were analyzed by paired t-test. RESULTS Eighty-two NANDA-I diagnoses, 116 NOC outcomes, and 163 NIC interventions were identified. Statistically significant differences in patients' preintervention and postintervention outcome scores were observed. CONCLUSION By determining patient outcomes linked to interventions and how the degree of outcomes change after interventions, the effectiveness of the interventions can be evaluated.
Limnology of wastewater treatment lagoons at Pagla, Narayanganj

Limnology of two wastewater treatment lagoons, (Lagoon numbers 1 and 10 are treated as L-1 and L-2, respectively) at Pagla, Narayanganj considering 15 water quality variables had been carried out for 10 months. Air and water temperature did not vary significantly. Secchi depth (Zs) showed gradual improvement from the lagoon 1 to lagoon 10 due to low loading of suspended matters. Improvement of water quality from L-1 to L-2 has also been observed in respect to alkalinity, conductivity and TDS. Similar trends were also seen for SRS and SRP. In L-1 anoxia occurred three times whereas it was absent in L-2. In the present study, improved DO prompted NO3-N and TDS concentration. However in L-2, mean values of SRP dropped by about 13% than L-1. A significant positive correlation between the density of phytoplankton and SRP in L-2 at 5% level was obtained. A total of 105 species of phytoplankton belonging to 6 different algal classes were recorded from the lagoons. Highest number of species was obtained from Chlorophyceae followed by Euglenophyceae, Bacillariophyceae, Cyanophyceae, Cryptophyceae and Dinophyceae. The population density of phytoplankton and that of zooplankton in L-1 was low compared to L-2. Higher number of genera and species occurred in L-2 than L-1. Chl a and pheopigment concentrations were also higher in L-2. Results indicated that water quality has increased in the treatment pond number 10. Key words: Limnology; Wastewater treatment lagoons; Pagla; Bangladesh DOI: http://dx.doi. org/10.3329/bjb.v40i1. 7995 Bangladesh J. Bot. 40 (1): 35-40, 2011 (June)
MOLECULAR IDENTIFICATION OF FOWL ADENOVIRUS ASSOCIATED WITH INCLUSION BODY HEPATITIS IN IRAN

Background and Aims: Inclusion body hepatitis (IBH) is one of the most important reemerging diseases in many countries with intensive poultry industries. In Iran, the etiological agent of IBH (fowl adenovirus) has not been yet confirmed. The aim of this study was the molecular detection and identification of fowl adenovirus involving IBH in chicken flocks in Iran. Materials and Methods: Polymerase chain reaction (PCR) and sequence analysis of L1 hexon gene was utilized to detect and to determinate the genotypes of Fowl adenovirus (FAdV) in broiler breeder flocks. Histopathological sections were prepared and examined. Results: FAdVs were detected in livers. Based on sequencing analysis of the hexon gene, they were genetically related to FAdV-11, a member of the fowl adenovirus D species, with 98% homology to Korean strain in 2011. Histological examination revealed necrotizing hepatitis with basophilic intranuclear inclusion bodies in the hepatocytes. Conclusion: This study provided evidence for the role of fowl adenoviruses as agents, causing this clinical disease in Iran and indicated the importance of accurate diagnosis and prevention in the meat-type flocks.
A new species of Urostreptus (Diplopoda, Spirostreptidae): description and chromossome number

This work presents the description and chromosome number of Urostreptus atrobrunneus sp. nov. The genus until now had not been registered yet in the Sao Paulo State, Brazil. The meiotic analysis showed that the species presents 2n=24, XY. The C-banding revealed large blocks of constitutive heterochromatin and two heteromorphic chromosomal pairs, one of them corresponding to the sexual pair.
Nucleotide sequence of wild-type hepatitis A virus GBM in comparison with two cell culture-adapted variants

In order to study cell tropism and attenuation of hepatitis A virus (HAV), the genome of HAV wild-type GBM and two cell culture-adapted variants, GBM/FRhK and GBM/HFS, were cloned and sequenced after amplification by reverse transcriptase-PCR. During virus cultivation, the HAV variant GBM/FRhK had a strict host range for FRhK-4 cells, in contrast to GBM/HFS, which can be grown in HFS and FRhK-4 cells. The HAV variant GBM/HFS was shown to be attenuated when inoculated into chimpanzees (B. Flehmig, R. F. Mauler, G. Noll, E. Weinmann, and J. P. Gregerson, p. 87-90, in A. Zuckerman, ed., Viral Hepatitis and Liver Disease, 1988). On the basis of this biological background, the comparison of the nucleotide sequences of these three HAV GBM variants should elucidate differences which may be of importance for cell tropism and attenuation. The comparison of the genome between the GBM wild type and HAV wild types HM175 (J. I. Cohen, J. R. Ticehurst, R. H. Purcell, A. Buckler-White, and B. M. Baroudy, J. Virol. 61:50-59, 1987) and HAV-LA (R. Najarian, O. Caput, W. Gee, S. J. Potter, A. Renard, J. Merryweather, G. Van Nest, and D. Dina, Proc. Natl. Acad. Sci. USA 82:2627-2631, 1985) showed a 92 to 96.3% identity, whereas the identity was 99.3 to 99.6% between the GBM variants. Nucleotide differences between the wild-type and the cell culture-adapted variants, which were identical in both cell culture-adapted GBM variants, were localized in the 5' noncoding region; in 2B, 3B, and 3D; and in the 3' noncoding region. Our result concerning the 2B/2C region confirms a mutation at position 3889 (C-->T, alanine to valine), which had been shown to be of importance for cell culture adaptation (S. U. Emerson, C. McRill, B. Rosenblum, S. M. Feinstone, and R. H. Purcell, J. Virol. 65:4882-4886, 1991; S. U. Emerson, Y. K. Huang, C. McRill, M. Lewis, and R. H. Purcell, J. Virol. 66:650-654, 1992), whereas other mutations differ from published HAV sequence data and may be cell specific. Further comparison of the two cell culture-adapted GBM variants showed cell-specific mutations resulting in deletions of six amino acids in the VP1 region and three amino acids in the 3A region of the GBM variant GBM/FRhK.
The cytoskeleton in plant and fungal cell tip growth

Tip‐growing cells have a particular lifestyle that is characterized by the following features: (1) the cells grow in one direction, forming a cylindrical tube; (2) tip‐growing cells are able to penetrate their growth environment, thus having to withstand considerable external forces; (3) the growth velocity of tip‐growing cells is among the fastest in biological systems. Tip‐growing cells therefore appear to be a system well suited to investigating growth processes. The cytoskeleton plays an important role in cell growth in general, which is why tip‐growing cells provide an excellent model system for studying this aspect. The cytoskeletal system comprises structural elements, such as actin filaments and microtubules, as well as proteins that link these elements, control their configuration or are responsible for transport processes using the structural elements as tracks. Common aspects as well as differences in configuration and function of the cytoskeleton in various types of tip‐growing cells reveal the general principles that govern the relationship between the cytoskeleton and cell growth.
Metabolic Signature on 18F-FDG PET/CT, HER2 Status, and Survival in Gastric Adenocarcinomas

The human epidermal growth factor 2 (HER2)–overexpressing (HER2-positive [HER2+]) gastric (GC) and gastroesophageal junction adenocarcinomas (GEJC) are felt to represent a more aggressive form of disease, which may correlate to increased metabolic activity. Whether tumor SUVmax measured by 18F-FDG PET/CT could be a preoperative parameter used to predict HER2 status of GC/GEJC is unknown. Methods: Pathology reports of HER2+ GC/GEJC biopsies and resections from 31 patients were reviewed and compared with HER2-negative (HER2−) cases distributed evenly over the same time period. We analyzed their SUVmax intensity and then compared the HER2 status and SUVmax parameters and their association with survival. Results: After matching for age and sex, there was no difference in SUVmax between HER2+ and HER2− cases (9.7 and 8.4, respectively; P = 0.6). No difference was seen between HER2+ and HER2− cases in tumor histology (81% and 57% intestinal type, respectively; P = 0.11), size (2.6 and 3.8 cm, respectively; P = 0.12), differentiation (47% and 68% poorly differentiated, respectively; P = 0.06), or presence of lymph node metastasis (60% and 40%, respectively; P = 0.3). Although there was no difference in survival demonstrated by HER2+ and HER2− cases, there was a significant difference in survival between SUVmax above (12.2 mo) and below (30 mo) the median SUVmax (6.6, P = 0.01). Conclusion: Our study shows that SUVmax is not associated with HER2 status of GC/GEJC. Independent of HER2 overexpression, patients with a high SUVmax demonstrate a worse overall survival, suggesting that metabolic signature is a better predictor of biologic tumor aggressiveness than its histologic signature.
Effects of ionizing radiation on oocytes of prepubertally irradiated rats.

PURPOSE To characterize the effects of ionizing radiation on the immature oocytes of prepubertal rats aged 16-20 days old. MATERIALS AND METHODS The abdomen of Sprague Dawley (SD) female rats was exposed to 0, 1 and 2 Gy of X-rays. The effects were analysed when the animals became adults (80 days old) using as parameters the number of implantation sites, embryonic loss, dominant lethality and the synaptonemal complex (SC) analysis of F1 female foetuses. RESULTS A statistically significant decrease in the fertility of the 2 Gy irradiated rats was observed. However, the SC analysis of F1 female foetuses showed no cytogenetic damage that could be attributed to radiation. CONCLUSIONS A reproductive effect was demonstrated but no inherited genetic damage was detected by SC analysis in female foetuses of irradiated mothers.