Miracle-dz/UniFAR-FTUs huggingface dataset:
The Wolf‐Hirschhorn syndrome in fetuses

Wolf‐Hirschhorn syndrome (WHS) with partial deletion of the short arm of chromosome 4 has been exceptionally diagnosed in fetuses. We report prenatal diagnosis of five cases of monosomy 4p. The fetuses were karyotyped for severe intrauterine growth retardation (IUGR) diagnosed on routine ultrasound (US). In addition, cleft‐lip and palate and diaphragmatic hernia respectively were found in two cases. The quantity of amniotic fluid was normal in all cases. At autopsy, the fetuses showed the typical craniofacial dysmorphy but without microcephaly. Major renal hypoplasia was the only constant visceral anomaly. Midline fusion defects were observed in all the fetuses, ranging from minor abnormalities such as scalp defect, hypertelorism, pulmonary isomerism, common mesentery, hypospadias and sacral dimple, to cleft palate, corpus callosum agenesis, ventricular septal defect, and diaphragmatic hernia. On post‐mortem X‐rays, a delayed bone age was always observed. All the placentae were hypotrophic, and two exhibited vascular lesions, although there was no maternal hypertension. Chromosomal studies showed that the breakpoints were within the 4p16 band in three cases, the 4p15 band in one case, and the 4p14 band in one case. The deletion was de novo in four cases, and resulted from a paternal translocation in one case. This study emphasizes the importance of karyotyping all fetuses with IUGR, especially when the quantity of amniotic fluid is normal, and suggests the possibility of recognizing on US the particular phenotype of WHS in utero.
Annual incidence, serotype distribution, and genetic diversity of human astrovirus isolates from hospitalized children in Melbourne, Australia

The incidence of astrovirus infection in children under 5 years of age hospitalized for acute gastroenteritis in Melbourne, Australia, during 1995 was determined. Astrovirus was detected in 16 fecal specimens by Northern (RNA) dot blot analysis of RNA isolated from feces with an astrovirus-specific cDNA probe. The incidence of astrovirus infection was determined as 4.2% (16 of 378 total samples) compared with rates of 63.2, 3.7, and 4.2% for rotavirus, adenovirus, and all bacterial pathogens, respectively. Astrovirus was detected during the winter season and mainly in infants between 6 and 12 months of age. Serotyping of samples was carried out by reverse transcriptase PCR and direct sequencing of a 348-bp region of the capsid protein gene. Type 1 strains predominated (11 of 13 typeable samples), although type 4 isolates were also detected. Astrovirus was retrospectively identified in 13 fecal samples collected from hospitalized infants between 1980 and 1985 and shown to contain small viruses by electron microscopy. Type 1 isolates were again the most common, although a type 5 strain was also found. Comparative sequence analysis indicated that type 1 astroviruses exhibited up to 7% sequence divergence over a 15-year period; however, all mutations were silent. The incidence of astrovirus reported here indicates that the virus is a significant cause of severe diarrhea in young children. The genetic analysis also provides important molecular epidemiological information relevant to the development of preventative therapies.
esveratrol inhibits the mTOR mitogenic signaling evoked by xidized LDL in smooth muscle cells

Objectives: Smooth muscle cell (SMC) proliferation is a major feature in atherosclerosis, since it contributes to the formation of the fibrous cap, thus to plaque stability, but also to arterial stenosis and post-angioplasty restenosis. Among the various mitogenic signaling pathways involved in SMC proliferation, the mTOR pathway regulates both the cell cycle and cell growth. Resveratrol, a polyphenolic compound from grapes and red wine, has potential anti-atherogenic and anti-cancer properties. This work was designed to investigate the activation of the mTOR pathway by the proatherogenic oxidized LDL (oxLDL) in SMC, and the potential inhibitory effect of resveratrol. Results: mTOR and its downstream target p70S6 kinase are phosphorylated and activated by mitogenic concentrations of oxLDL (50 g/ml), and are involved in SMC proliferation, as assessed by the inhibitory effect of the mTOR inhibitor rapamycin. The activation of mTOR signaling by oxLDL, requires the upstream activation of PI3K and Akt, as assessed by the inhibitory effect of the PI3K inhibitor Ly294002 on mTOR activation and DNA synthesis. Resveratrol blocked the oxLDL-induced phosphorylation and activation of the PI3K/Akt/mTOR/p70S6K pathway and strongly inhibited both the DNA synthesis and proliferation of SMC. This activity is independent of the anti-oxidant effect and of AMPK activation by resveratrol. Conclusion: These data indicate that the mTOR pathway is activated by oxLDL via PI3K/PDK1/Akt, and is required for SMC proliferation. Resveratrol blocks specifically this pathway, thereby inhibiting oxLDLinduced SMC proliferation. These data highlight a new property for resveratrol that could contribute to nic p the general anti-atheroge
Sex-lethal autoregulation requires multiple cis-acting elements upstream and downstream of the male exon and appears to depend largely on controlling the use of the male exon 5' splice site

The on/off state of the binary switch gene Sex-lethal (Sxl), which controls somatic sexual development in Drosophila melanogaster, is regulated at the level of alternative splicing. In males, in which the gene is off, the default splicing machinery produces nonfunctional mRNAs; in females, in which the gene is on, the autoregulatory activity of the Sxl proteins directs the splicing machinery to produce functional mRNAs. We have used germ line transformation to analyze the mechanism of default and regulated splicing. Our results demonstrate that a blockage mechanism is employed in Sxl autoregulation. However, in contrast to transformer, in which Sxl appears to function by preventing the interaction of splicing factors with the default 3' splice site, a different strategy is used in autoregulation. (i) Multiple cis-acting elements, both upstream and downstream of the male exon, are required. (ii) These cis-acting elements are distant from the splice sites they regulate, suggesting that the Sxl protein cannot function in autoregulation by directly competing with splicing factors for interaction with the regulated splice sites. (iii) The 5' splice site of the male exon appears to be dominant in regulation while the 3' splice site plays a subordinate role.
Cost-effectiveness of rituximab as maintenance therapy in patients with follicular non-Hodgkin lymphoma after responding to first-line rituximab plus chemotherapy

Abstract A recent phase III trial demonstrated that maintenance rituximab® therapy after response to first-line treatment with rituximab plus chemotherapy (R-chemo) increases progression-free survival (PFS) for follicular non-Hodgkin lymphoma (f-NHL). A cost-effectiveness analysis of R-maintenance versus observation was conducted from a US payer perspective to estimate PFS and overall survival (OS) over a representative patient's lifetime. Primary outcomes were cost per life-year gained (LYG) and cost per quality-adjusted life-year (QALY) gained. Compared with observation, R-maintenance increased mean PFS by 1.50 years, OS by 1.21 years and QALYs gained by 1.11 years. The incremental cost of maintenance therapy was $38 545. The costs per LYG and QALY gained were $31 934 and $34 842, respectively. Within the limitations of modeling long-term outcomes, R-maintenance therapy in patients who received R-chemo for previously untreated f-NHL compared with observation alone after R-chemo for first-line treatment for f-NHL is cost-effective from the US payer perspective.
A Comparison of Three Methods of Pain Control for Posterior Spinal Fusions in Adolescent Idiopathic Scoliosis

Study Design. Retrospective cohort study. Objective. To compare the efficacy of patient-controlled analgesia (PCA) with morphine alone, a single preoperative intrathecal morphine injection and PCA (IT/PCA), and epidural catheter infusion without PCA (EPI) for postoperative pain control after posterior spinal fusion (PSF) and segmental spinal instrumentation (SSI) in adolescent idiopathic scoliosis (AIS). Summary of Background Data. Postoperative pain control after PSF and SSI in AIS can be managed in different ways. EPI provides for a longer period of pain relief but is reliant on the correct placement and maintenance of the catheter in the epidural space. A single preoperative intrathecal morphine injection also provides for long acting analgesia. No direct comparison of these 3 methods of postoperative pain control has been reported. Methods. An IRB-approved retrospective chart review was performed at 2 institutions from 1997 to 2005. The medical record was reviewed to determine pain scores after surgery at multiple time periods. The 3 groups were compared using Student t test and &khgr;2 and significance was defined as P < 0.05. Results. There was no statistical difference in the gender, age, magnitude of curve, or number of levels fused in the IT/PCA (N = 42), PCA (N = 41), or EPI (N = 55) groups. Postoperative pain scores were lowest in the IT/PCA group in the first 8 hours (P < 0.05) but the pain scores in the EPI group were then lower through 24 hours (P < 0.05). Total morphine use (mg/kg) was lower in the IT/PCA group compared with the PCA group at 12 hours and 24 hours (P = 0.0001). Return to solid food ingestion was quickest in the EPI group (2.0 days) followed by the IT/PCA (2.6 days) and PCA alone (3.2 days) (P < 0.002). Respiratory depression and transient neurologic change occurred most frequently in the EPI group (EPI 11/55 pts vs. 1/42 IT/PCA vs. 0/41 PCA P < 0.001). Pruritis was greatest in the epidural group (11/55 P < 0.05). There were no intraoperative somatosensory-evoked potential changes or permanent neurologic injury recorded in any group. Conclusion. An EPI controls postoperative pain for the longest period of time and allows for a quicker return to consumption of solid foods. However, a single preoperative intrathecal morphine injection controls the pain equally for the first 24 hours with less pruritis and with less adverse events thus requiring less nursing and physician intervention after PSF and SSI in AIS. All methods were safe with no neurologic injury recorded.
Effects of Delayed Auditory Feedback on Speech Kinematics in Fluent Speakers

The effects of delayed auditory feedback on behavioral responses and speech kinematics were investigated. Participants were 10 men (M age = 22.2 yr., SD = 3.7) and 10 women (M age = 20.5 yr., SD = 2.2). Participants were required to repeat shorter (6 syllables) and longer (11 syllables) non-words in a reading task. Speech errors, lip movement variability, and movement duration of labial trajectories under delayed feedback were compared to effects under gated speech feedback and a control or synchronous auditory feedback condition. Repeated-measures analysis indicated a lower percent of correct productions, higher variability, and slower duration of lip movements in the delayed feedback condition compared to the gated feedback and control conditions. Implications for auditory feedback of movement control in continuous speech and for theories of delayed auditory feedback that attribute a role to movements are discussed.
THE WATER AND BASE BALANCE OF THE BODY.

A satisfactory method for the quantitative estimation of changes of hydration of the body is not available. Measurement of obvious fluids of the intake and output is of limited value. The method of determination of total water exchange proposed by Newburgh (1) has proved unsatisfactory in our experience (2). An approach to the problem through study of the electrolyte metabolism has the advantage that it gives information not only concerning the exchange of fluids between body and environment but also concerning the distribution of these fluids within the body. That base (excluding calcium) and water are lost by the body in approximately the proportions in which they appear in the plasma was demonstrated by Gamble, Ross and Tisdall (3) from studies of fasting epileptic children. They suggested the use of this relationship for the estimation of water exchange from determined balances of cations. This procedure presupposes that total base is distributed evenly throughout the entire volume of body fluids and that the concentration of total base in these fluids remains constant while the volume of fluids changes. This need not be true, of course, for individual cations. Gamble's concept has gained wide acceptance and has served to add much to our knowledge of the interrelationship of the metabolism of base and of water. The application of improved analytical methods to the determination of serum base has demonstrated that variations of one or two per cent are common, and that much wider variations occur under unusual circumstances. Comparisons by direct analyses of tissues (4), transudates (5, 6, 7, 8), and red blood corpuscles (9, 10, 11) with serum have shown, as might be inferred from the results of Gamble's experiments, that concentrations of total base per unit of water are approximately alike in all these media. The concentration
Fungi Linking the Pathophysiology of Chronic Rhinosinusitis with Nasal Polyps and Allergic Asthma

The immunologic reaction to fungal stimuli has long been thought to be a contributor to the development of sinonasal disease. We aim to review the role of fungi in upper and lower airway inflammatory diseases. The immune response to fungi in the pathogenicity of specific respiratory inflammatory diseases such as allergic bronchopulmonary aspergillosis and a subtype of CRS known as allergic fungal rhinosinusitis has been relatively well described. Fungi are thought to serve both as immunogenic antigens and as adjuncts to inflammation through protease activity. Development of a recent murine mouse model of asthma bypassing the pre-sensitization of allergen further suggests a broader role for fungi in allergic asthma. The literature is lacking in defining a clear presence of fungi within the inflamed sinus cavity of CRS patients and its potential immunologic effects, as well as the utility of antifungal therapy for CRS management. We will review these data and potential common molecular mechanisms activated by fungi in the common pathway toward upper and lower airway inflammatory pathology.
The Role of the C 4 Pathway in Carbon Accumulation and Fixation in a Marine Diatom 1

The role of a C4 pathway in photosynthetic carbon fixation by marine diatoms is presently debated. Previous labeling studies have shown the transfer of photosynthetically fixed carbon through a C4 pathway and recent genomic data provide evidence for the existence of key enzymes involved in C4 metabolism. Nonetheless, the importance of the C4 pathway in photosynthesis has been questioned and this pathway is seen as redundant to the known CO2 concentrating mechanism of diatoms. Here we show that the inhibition of phosphoenolpyruvate carboxylase (PEPCase) by 3,3-dichloro-2-dihydroxyphosphinoylmethyl-2propenoate resulted in a more than 90% decrease in whole cell photosynthesis in Thalassiosira weissflogii cells acclimated to low CO2 (10 mM), but had little effect on photosynthesis in the C3 marine Chlorophyte, Chlamydomonas sp. In 3,3-dichloro-2dihydroxyphosphinoylmethyl-2-propenoate-treated T. weissflogii cells, elevated CO2 (150 mM) or low O2 (80–180 mM) restored photosynthesis to the control rate linking PEPCase inhibition with CO2 supply in this diatom. In C4 organic carbon-inorganic carbon competition experiments, the C-labeled C4 products of PEPCase, oxaloacetic acid and its reduced form malic acid suppressed the fixation of C-labeled inorganic carbon by 40% to 50%, but had no effect on O2 evolution in photosynthesizing diatoms. Oxaloacetic acid-dependent O2 evolution in T. weissflogii was twice as high in cells acclimated to 10 mM rather than 22 mM CO2, indicating that the use of C4 compounds for photosynthesis is regulated over the range of CO2 concentrations observed in marine surface waters. Short-term C uptake (silicone oil centrifugation) and CO2 release (membrane inlet mass spectrometry) experiments that employed a protein denaturing cell extraction solution containing the PEPCKase inhibitor mercaptopicolinic acid revealed that much of the carbon taken up by diatoms during photosynthesis is stored as organic carbon before being fixed in the Calvin cycle, as expected if the C4 pathway functions as a CO2 concentrating mechanism. Together these results demonstrate that the C4 pathway is important in carbon accumulation and photosynthetic carbon fixation in diatoms at low (atmospheric) CO2.
Ecophysiological variation of transpiration of pine forests: synthesis of new and published results.

Canopy transpiration (EC ) is a large fraction of evapotranspiration, integrating physical and biological processes within the energy, water, and carbon cycles of forests. Quantifying EC is of both scientific and practical importance, providing information relevant to questions ranging from energy partitioning to ecosystem services, such as primary productivity and water yield. We estimated EC of four pine stands differing in age and growing on sandy soils. The stands consisted of two wide-ranging conifer species: Pinus taeda and Pinus sylvestris, in temperate and boreal zones, respectively. Combining results from these and published studies on all soil types, we derived an approach to estimate daily EC of pine forests, representing a wide range of conditions from 35° S to 64° N latitude. During the growing season and under moist soils, maximum daily EC (ECm ) at day-length normalized vapor pressure deficit of 1 kPa (ECm-ref ) increased by 0.55 ± 0.02 (mean ± SE) mm/d for each unit increase of leaf area index (L) up to L = ~5, showing no sign of saturation within this range of quickly rising mutual shading. The initial rise of ECm with atmospheric demand was linearly related to ECm-ref . Both relations were unaffected by soil type. Consistent with theoretical prediction, daily EC was sensitive to decreasing soil moisture at an earlier point of relative extractable water in loamy than sandy soils. Our finding facilitates the estimation of daily EC of wide-ranging pine forests using remotely sensed L and meteorological data. We advocate an assembly of worldwide sap flux database for further evaluation of this approach.
Peptides in membranes: Helicity and hydrophobicity

Synthetic model membrane‐interactive peptides—both of natural and designed sequence—have become convenient and systematic tools for determination of how the membrane‐spanning segments within integral membrane proteins confer protein structure and biology. Conformational studies on these peptides demonstrate that the α‐helix is the natural choice of conformation for a peptide segment in a membrane, and that a helical conformation will arise “automatically” in a peptide above a threshold hydrophobicity that allows it to associate stably with the membrane. Environmental and sequential contexts thus impart conformational versatility to many of the amino acids, thereby providing a mechanism for producing the diverse structural and functional properties of proteins. © 1994 John Wiley & Sons, Inc.
Prasugrel vs. clopidogrel in acute coronary syndrome patients treated with prasugrel

Current guidelines recommend a combination of clopidogrel and aspirin for management of patients who have experienced an acute coronary syndrome (ACS). Additional antiplatelet agents have been recently approved. Few comparative effectiveness studies are available for these new agents. Accordingly, we evaluated effect on time to hospital admission and resource utilization (number of hospitalizations, ER visits and outpatient visits) of prasugrel vs. clopidogrel in prasugrel‐treated patients as assessed in a matched cohort.
Methodology and location in the context of qualitative data and theoretical frameworks in geoscience education research

Successful and rigorous qualitative research requires careful planning of purpose, methods, and theoretical frameworks. The qualitative researcher must locate the study in time, space, and culture, and must also locate herself or himself in the study. This is in order to thoroughly and publicly explore his or her purpose, role, and potential biases. Through this process, the researcher defines the ways in which these and other factors inform the research. Finally, the qualitative researcher must take thought of methodology—as opposed to method—and must understand the difference between the two. In this paper, I review basic principles of qualitative inquiry with regard to the nature of qualitative data and theoretical frameworks. I then explore the issues of location and methodology as applied to qualitative inquiry in geoscience education research through examples relevant to the discipline. I describe the process of locating the study, and the ways in which the researcher defines his or her place therein. I then discuss the differences between method and methodology. Finally, I review four specific methodologies, including hermeneutics, phenomenology, ethnography, and policy analysis.
Charge-Trapping-Type Flash Memory Device With Stacked High- $k$ Charge-Trapping Layer

Operating properties of charge-trapping-type Flash memory devices with single or stacked structures on trapping layer are investigated in this letter. Improved operation and reliability characteristics can be achieved by adapting the stacked high-k films as charge-trapping layer due to the modification in the trap density and the energy level of traps, the mechanism of electron/hole transmission, and the suitable band offset. Moreover, with a small bandgap of second film in the stacked trapping layer, operating characteristics of devices are further enhanced.
Dobermannhaltung in Deutschland: Ergebnisse einer Befragung

Zusammenfassung Gegenstand und Ziel: m Zuge der Debatten um so genannte “Kampfhunde” wurde diskutiert, ob die Rasse Dobermann zu den “gefährlichen Rassen” zählt. Um Informationen über Aufzucht, Haltung und Erziehung dieser Rasse sowie über die Einstellung der Besitzer zu ihrem Tier zu erhalten und um zu erfahren, wie häufig aggressives Verhalten bei Vertretern dieser Rasse vorkommt, wurde eine Befragung von Dobermannhaltern durchgeführt. Material und Methoden: Über den Deutschen Dobermannverein e. V. erfolgte der Versand von Fragebögen an Dobermannhalter. Zur Auswertung gelangten 185 ausgefüllte Fragebögen. Ergebnisse: 93% der Hunde waren an der Rute, aber auch zwei Drittel an den Ohren kupiert, obwohl dies nach dem deutschen Tierschutzgesetz nicht erlaubt ist. Die Hunde stammten hauptsächlich aus einer Zucht mit Familienanschluss und aus Deutschland. Ihre Haltung erfolgte meist in ländlicher Gegend und häufig in einer Kombination aus Wohnungs-und Zwingerhaltung. Ihr Erziehungsstand war als überdurchschnittlich hoch zu bezeichnen. Drei Viertel der Hunde hatten eine Prüfung (meist Begleithundeprüfung) abgelegt, fast alle befolgten die Grundkommandos. Bei der Einstellung der Dobermannbesitzer fiel auf, dass der Großteil einen Hund mit kupierten Ohren und Rute wünschte und dass für sie in besonderem Maße das Aussehen der Rasse wie auch Schutzhundeigenschaften eine bedeutende Rolle spielten. Die Halter waren meist hundeerfahren, hatten sich vor der Anschaffung gut über die Rasse informiert und eine bewusste Rassenwahl getroffen. Fast alle Halter (96% von n = 183) waren der Meinung, dass der Dobermann zu Unrecht zu den “gefürchteten” Rassen zählt.