Miracle-dz/UniFAR-FTUs huggingface dataset:
Prenatal exclusion of UPD from cytogenetic slides: a simple method

The growing awareness of the effects of uniparental disomy (UPD) of several chromosomes on phenotype and the knowledge of many conditions at risk for UPD, such as Robertsonian translocations or confined placental mosaicism, has forced prenatal cytogenetic laboratories to face the problem. Although the actual frequency of UPD in livebirth is unknown and probably low, the situations with an increased risk for UPD are not infrequent. When such conditions are met, a fast and reliable method of analysis that could be performed avoiding further fetal sampling would be useful. Here we report on our experience with an improved method for prenatal diagnosis from chromosome spread slides. We adapted, with slight modification, the method suggested by Li et al. (1995) for cytogenetic suspensions. Chromosome spread slides were obtained from a mesenchymal CVS culture of a de novo rob(13;14) fetus (case 1) and from amniocytes in a case of t(Y;15)pat (case 2). Both QFQ and GTG banded cytogenetic preparations were employed, as well as unstained and unbanded chromosome spreads. Slides were washed with xylol (only when immersion oil had been employed), rinsed in absolute ethanol, then carefully scraped with a surgical knife. While scraping, slides were repeatedly rinsed with absolute ethanol so that chromosome spreads could be recovered and transferred into a 1·5 ml microtube. After sedimentation at 13 000 rpm for 30 minutes at 4)C in a microfuge, the pellet was resuspended in 30–50 ìl of distilled water. 4 ìl of suspension were directly put into the amplification tube together with the PCR mixture. The PCR reaction was performed in 25 ìl of a solution containing 2·5 ìl 10#PCR buffer (Boehringer Mannheim), 200 ìM of each dNTP, 0·8–1 ìM of each primer and 1 U of Taq polymerase (Boehringer Mannheim). Standard PCR conditions were as follows: 94)C for 3 minutes (1 cycle); 94)C for 45 seconds, 55)C for 30 seconds, 72)C for 45 seconds (25–30 cycles); 72)C for 3 minutes (1 cycle). For case 1, chromosome 14 segregation was investigated with STS markers D14S267, D14S286, D14S77 and D14S301, while in case 2, for chromosome 15, GABRB3 and D15S113 polymorphic loci were sufficient for UPD exclusion. Primers for all markers were obtained from the Genome Data Base. Products obtained by PCR amplification were resolved on 12 per cent polyacrylamide gels and visualized by silver staining. Briefly, gels were fixed in 10 per cent ethanol— 0·5 per cent acetic acid for 5 minutes, then incubated for 15 minutes in 0·1 per cent AgNO3. After two washes with distilled water, a solution containing 1·5 per cent NaOH, 0·15 per cent formaldehyde and 0·01 per cent NaBH4 was added to the gels. Amplification products were completely visualized in 10–15 minutes.
Long-Term Mechanical Ventilation: Management Strategies

This paper reviews management strategies for patients undergoing prolonged mechanical ventilation (PMV). Topics covered include how to identify and correct barriers to weaning, the systematic approach to weaning trials, when to cease weaning trials and proceed with life-long support, managing the tracheostomy tube during PMV, and, finally, how to select a suitable mechanical ventilator for PMV.
Developmental Interactions for Business Students: Do They Make a Difference?

Internships, mentoring, and collaborative projects are three forms of developmental interactions that students can use to acquire knowledge, gain advice, and get support to guide them through the transition to postcollege life. The current research used data from undergraduate senior business majors and a cohort of alumni 3 to 5 years after graduation to examine the short-term and early career outcomes of such developmental experiences. The results suggest that, compared with not having developmental interaction experiences, (a) being mentored leads to more psychosocial support in the short-term and more career development, business knowledge, and psychosocial support once a student has graduated and is working for 3 to 5 years; (b) engaging in a collaborative student project leads to more career development, business knowledge, and psychosocial support; and (c) doing an internship results in more career development support, more job satisfaction, more career satisfaction, more organizational commitment, and faster promotion rates. These findings suggest that making multiple developmental interactions part of a management education curriculum can help students better prepare for the working world.
Speech Quality While Roaming in Next Generation Networks

In NGNs, handovers between different wireless access technologies provide seamless roaming during voice calls. The resulting speech quality depends on the audio bandwidth of the speech codecs used in the respective networks, as well as on degradations resulting from the handover, coding, and packet loss. We present the results of four listening experiments where speech quality is quantified as a function of network and codec characteristics, and compare them to estimations obtained from instrumental models. The results show when and under which circumstances a network handover and/or codec changeover should be scheduled in order to obtain better speech quality. This is important for the development of high-quality roaming strategies.
Determination of the Solution Structures of Conantokin-G and Conantokin-T by CD and NMR Spectroscopy*

Conantokin-G and conantokin-T are two paralytic polypeptide toxins originally isolated from the venom of the fish-hunting cone snails of the genus Conus. Conantokin-G and conantokin-T are the only naturally occurring peptidic compounds which possess N-methyl-D-aspartate receptor antagonist activity, produced by a selective non-competitive antagonism of polyamine responses. They are also structurally unusual in that they contain a disproportionately large number of acid labile post-translational γ-carboxyglutamic acid (Gla) residues. Although no precise structural information has previously been published for these peptides, early spectroscopic measurements have indicated that both conantokin-G and conantokin-T form α-helical structures, although there is some debate whether the presence of calcium ions is required for these peptides to adopt this fold. We now report a detailed structural study of synthetic conantokin-G and conantokin-T in a range of solution conditions using CD and 1H NMR spectroscopy. The three-dimensional structures of conantokin-T and conantokin-G were calculated from 1H NMR-derived distance and dihedral restraints. Both conantokins were found to contain a mixture of α- and 310 helix, that give rise to curved and straight helical conformers. Conantokin-G requires the presence of divalent cations (Zn2+, Ca2+, Cu2+, or Mg2+) to form a stable α-helix, while conantokin-T adopts a stable α-helical structure in aqueous conditions, in the presence or absence of divalent cations (Zn2+, Ca2+, Cu2+, or Mg2+).
Visuoperceptual processes in brain damaged patients on the digit symbol substitution test.

Alcoholic Korsakoff patients, patients with right hemisphere damage, and chronic alcoholics are impaired on the digit symbol substitution task (DSST) of the WAIS. To determine whether these deficits were related to psychomotor or visuoperceptive factors, several tasks and modifications of the DSST were administered to these three patient populations. While it was evident that psychomotor retardation contributed to the patients' poor performance, impairments in visuoperceptive processing were also found to be involved in the DSST performance of the three patient groups. It was concluded that while a psychomotor factor is the crucial variable in the performance of intact normal subjects, any of a number of visual processing variables (e.g., visual scanning, contour formation and organization) must be considered in assessing the deficits of brain damaged patients.
Trypanosoma cruzi DNA replication includes the sequential recruitment of pre-replication and replication machineries close to nuclear periphery

In eukaryotes, many nuclear processes are spatially compartmentalized. Previously, we have shown that in Trypanosoma cruzi, an early-divergent eukaryote, DNA replication occurs at the nuclear periphery where chromosomes remain constrained during the S phase of the cell cycle. We followed Orc1/Cdc6, a pre-replication machinery component, and the proliferating cell nuclear antigen (PCNA), a component of replication machinery, during the cell cycle of this protozoon. We found that, at the G1 stage, Orc1/Cdc6 and PCNA are dispersed throughout the nuclear space. During the G1/S transition, Orc1/Cdc6 migrates to a region close to nuclear periphery. At the onset of S phase, PCNA is loaded onto the DNA and remains constrained close to nuclear periphery. Finally, in G2, mitosis and cytokinesis, Orc1/Cdc6 and PCNA are dispersed throughout the nuclear space. Based on these findings, we propose that DNA replication in T. cruzi is accomplished by the organization of functional machineries in a spatial-temporal manner.
Expression and Methylation of FGF2, TGF-β and Their Downstream Mediators during Different Developmental Stages of Leg Muscles in Chicken

A number of growth factors determine the proliferation of myoblasts and therefore the number of ultimate myofibers. The members of transforming growth factor-beta (TGF-β) family and the fibroblast growth factor 2 (FGF2) have profound effects on skeletal myoblasts proliferation in various animal systems. To investigate their involvement in different stages of avian skeletal muscle development in vivo, we detected the mRNA expression and DNA methylation profiles of TGF-β2, TGF-β3, FGF2 and their downstream mediators in leg muscles at embryonic day 10, day of hatch and day 45 posthatch, using both Arbor Acres meat-type and White Leghorn egg-type chickens. By real-time PCR, we found that the expression levels of TGF-β2, TGF-β3, Smad3 and FGF2 were significantly (P≤0.01) higher at embryonic day 10, a developmental window of abundant fetal myoblasts expansion, by comparison to day of hatch and day 45 posthatch. The methylation status of the 5′ end region of these four genes was examined subsequently. A section of a CpG island in the 5′ end region of FGF2 was significantly hypomethylated (P≤0.01) at embryonic day 10, compared with neonatal and postnatal stages in both stocks. Our results suggested that TGF-β2, TGF-β3, Smad3 and FGF2 may play important roles in fetal myoblasts proliferation in chicken hindlimb, and the transcription of FGF2 in this wave of myogenesis could be affected by DNA methylation in 5′ flanking region. These outcomes contribute to our knowledge of the growth factors in avian myogenesis. Further investigation is needed to confirm and fully understand their functions in fetal limb myogenesis in birds.
Electrophysiological characterization of granule cells in the dentate gyrus immediately after birth

Granule cells (GCs) in the dentate gyrus are generated mainly postnatally. Between embryonic day 10 and 14, neural precursors migrate from the primary dentate matrix to the dentate gyrus where they differentiate into neurons. Neurogenesis reaches a peak at the end of the first postnatal week and it is completed at the end of the first postnatal month. This process continues at a reduced rate throughout life. Interestingly, immediately after birth, GCs exhibit a clear GABAergic phenotype. Only later they integrate the classical glutamatergic trisynaptic hippocampal circuit. Here, whole cell patch clamp recordings, in current clamp mode, were performed from immature GCs, intracellularly loaded with biocytin (in hippocampal slices from P0 to P3 old rats) in order to compare their morphological characteristics with their electrophysiological properties. The vast majority of GCs were very immature with small somata, few dendritic branches terminating with small varicosities and growth cones. In spite of their immaturity their axons reached often the cornu ammonis 3 area. Immature GCs generated, upon membrane depolarization, either rudimentary sodium spikes or more clear overshooting action potentials that fired repetitively. They exhibited also low threshold calcium spikes. In addition, most spiking neurons showed spontaneous synchronized network activity, reminiscent of giant depolarizing potentials (GDPs) generated in the hippocampus by the synergistic action of glutamate and GABA, both depolarizing and excitatory. This early synchronized activity, absent during adult neurogenesis, may play a crucial role in the refinement of local neuronal circuits within the developing dentate gyrus.
Nanofibrous bio-inorganic hybrid structures formed through self-assembly and oriented mineralization of genetically engineered phage nanofibers.

Nanofibrous organic–inorganic hybrid structures, where inorganic nanocomponents are formed or assembled within the aligned organic nanofibrous matrix, are important materials that can find applications in electronics, photonics, catalysis, and tissue engineering. [1–11] They not only provide a means for supporting and ordering the functional inorganic materials such as nanoparticles,[4–6,8] but also can serve as building blocks to further self-assemble into higher-order structures. [5,11,12] The common approaches to the synthesis of the nanofibrous organic-inorganic hybrid structures include electrospinning,[2,4,10] polymer-templating,[3] biotemplating,[5–7,11] and directional freezing. [1] As a matter of fact, the nanofibrous organic-inorganic hybrid structures are important building blocks in natural mineralized biomaterials. One of the best examples is the mineralized collagen fibrils constituting the extracellular matrix (ECM) of bone. [13] Bone is made of cells embedded in ECM, which is hierarchically organized from proteins, including type I collagen and non-collagenous proteins (NCPs) such as bone sialoprotein (BSP), and calcium hydroxylapatite (HAP, Ca10(PO4)6(OH)2). The collagen molecules (~1.5 nm wide and 300 nm long) are self-assembled into wider (up to 200 nm wide) and longer (several µm long) fibrils in a side-to-side and head-to-tail format, which are further hierarchically self-assembled to form much wider and longer collagen fibers (up to several tens µm wide and long). [14,15] HAP is found within the gaps and grooves of the collagen fibers with its c-axis preferentially along the collagen fibers.
Evolution of a campus sustainability network: a case study in organizational change

Purpose – The purpose of this paper is to examine the evolution of a sustainability network at a large California public university, as an example of organizational change.Design/methodology/approach – The paper combines participant observation and case study techniques over a three‐year period. From 2007 to 2010, the author helped found the university's Institute for Sustainability and sat on both the Institute's first Advisory Board and the university's first Core Green Team. The author also interviewed 19 key informants to the sustainability network, including upper administrators, physical plant management (PPM) staff, faculty, and students.Findings – This campus sustainability initiative evolved over three decades in three phases. Phase I evolved from the 1980s in facilities management and student recycling because of changing environmental demands, the 1994 Northridge earthquake, and strong leadership who believed in developing human resources. In Phase II, faculty and Academic Affairs established t.
Restoration of IFNγR Subunit Assembly, IFNγ Signaling and Parasite Clearance in Leishmania donovani Infected Macrophages: Role of Membrane Cholesterol

Despite the presence of significant levels of systemic Interferon gamma (IFNγ), the host protective cytokine, Kala-azar patients display high parasite load with downregulated IFNγ signaling in Leishmania donovani (LD) infected macrophages (LD-MØs); the cause of such aberrant phenomenon is unknown. Here we reveal for the first time the mechanistic basis of impaired IFNγ signaling in parasitized murine macrophages. Our study clearly shows that in LD-MØs IFNγ receptor (IFNγR) expression and their ligand-affinity remained unaltered. The intracellular parasites did not pose any generalized defect in LD-MØs as IL-10 mediated signal transducer and activator of transcription 3 (STAT3) phosphorylation remained unaltered with respect to normal. Previously, we showed that LD-MØs are more fluid than normal MØs due to quenching of membrane cholesterol. The decreased rigidity in LD-MØs was not due to parasite derived lipophosphoglycan (LPG) because purified LPG failed to alter fluidity in normal MØs. IFNγR subunit 1 (IFNγR1) and subunit 2 (IFNγR2) colocalize in raft upon IFNγ stimulation of normal MØs, but this was absent in LD-MØs. Oddly enough, such association of IFNγR1 and IFNγR2 could be restored upon liposomal delivery of cholesterol as evident from the fluorescence resonance energy transfer (FRET) experiment and co-immunoprecipitation studies. Furthermore, liposomal cholesterol treatment together with IFNγ allowed reassociation of signaling assembly (phospho-JAK1, JAK2 and STAT1) in LD-MØs, appropriate signaling, and subsequent parasite killing. This effect was cholesterol specific because cholesterol analogue 4-cholestene-3-one failed to restore the response. The presence of cholesterol binding motifs [(L/V)-X1–5-Y-X1–5-(R/K)] in the transmembrane domain of IFNγR1 was also noted. The interaction of peptides representing this motif of IFNγR1 was studied with cholesterol-liposome and analogue-liposome with difference of two orders of magnitude in respective affinity (KD: 4.27×10−9 M versus 2.69×10−7 M). These observations reinforce the importance of cholesterol in the regulation of function of IFNγR1 proteins. This study clearly demonstrates that during its intracellular life-cycle LD perturbs IFNγR1 and IFNγR2 assembly and subsequent ligand driven signaling by quenching MØ membrane cholesterol.
The School Compositional Effect of Single Parenthood on 10th-Grade Achievement.

It is widely acknowledged that single parenthood carries educational disadvantages for the individual children of single parents. Using NELS data, the author also found a detrimental contextual effect on 10th-grade mathematics and reading achievement associated with attending a school in which a high concentration of children are from single-parent homes. This effect was evident even when individual demographic characteristics and family background were controlled. To account for this contextual effect, the author investigated the mediating role of a school's net socioeconomic status (SES) and net social capital, as indicated by parents' social relations and networks with other parents. She found that both can account for differences in mathematics and reading achievement between schools enrolling less than 25 percent and schools with 25-49 percent of students from single-parent families. Furthermore, there is evidence that even the academic disadvantage of attending schools with 50 percent or more students from single-parent families can be offset when social relations and networks among parents are strong
I will shoot your shopping down and you can shoot all my tins—Automatic Lexical Acquisition from the CHILDES Database

Empirical data regarding the syntactic complexity of children's speech is important for theories of language acquisition. Currently much of this data is absent in the annotated versions of the childes database. In this perliminary study, we show that a state-of-the-art subcategorization acquisition system of Preiss et al. (2007) can be used to extract large-scale subcategorization (frequency) information from the (i) child and (ii) child-directed speech within the childes database without any domain-specific tuning. We demonstrate that the acquired information is sufficiently accurate to confirm and extend previously reported research findings. We also report qualitative results which can be used to further improve parsing and lexical acquisition technology for child language data in the future.
Religiosity in patients with Parkinson’s disease

Objective To study clinical correlates of religiosity in Parkinson’s disease (PD). Methods Measures of life goals, religiosity, mood, and neuropsychologic function were assessed in 22 persons with mid-stage PD and 20 age-matched healthy controls. Levodopa dose equivalents (LDE) were also computed for the patients. Results Relative to other major life goals parkinsonian patients were significantly more likely to report that “my religion or life philosophy” was less important than were age-matched controls. Scores on a battery of religiosity scales were consistently lower for Parkinson’s patients than those of age-matched controls. While Mini Mental State Exam, logical memory recall, Stroop, and selected (depression and anxiety) mood scales reliably distinguished patients from controls, only measures of prefrontal function correlated with religiosity scores. Conclusions Patients with PD express less interest in religion and report consistently lower scores on measures of religiosity than age-matched controls. Prefrontal dopaminergic networks may support motivational aspects of religiosity.
You Can’t Always Get What You Need

While some U.S. corporations have adopted a host of diversity management programs, many have done little or nothing. We explore the forces promoting six diversity programs in a national sample of 816 firms over 23 years. Institutional theory suggests that external pressure for innovation reinforces internal advocacy. We argue that external pressure and internal advocacy serve as alternatives, such that when external pressure is already high, increases in internal advocacy will not alter the likelihood of program adoption. Moreover, institutional theory points to functional need as a driver of innovation. We argue that in the case of innovations designed to achieve new societal goals, functional need, as defined in this case by the absence of workforce diversity or the presence of regulatory oversight, is less important than corporate culture. Our findings help explain the spotty coverage of diversity programs. Firms that lack workforce diversity are no more likely than others to adopt programs, but firms with large contingents of women managers are more likely to do so. Pro-diversity industry and corporate cultures promote diversity programs. The findings carry implications for public policy.