Miracle-dz/UniFAR-FTUs huggingface dataset:
KCNK9 imprinting syndrome—further delineation of a possible treatable disorder

Patients with KCNK9 imprinting syndrome demonstrate congenital hypotonia, variable cleft palate, normal MRIs and EEGs, delayed development, and feeding problems. Associated facial dysmorphic features include dolichocephaly with bitemporal narrowing, short philtrum, tented upper lip, palatal abnormalities, and small mandible. This disorder maps to chromosomal region 8q24, and it is caused by a specific missense mutation 770G>A in exon 2, replacing glycine at position 236 by arginine (G236R) in the maternal copy of KCNK9 within this locus. KCNK9 (also called TASK3) encodes a member of the two pore‐ domain potassium channel (K2P) subfamily. This gene is normally imprinted with paternal silencing, thus a mutation in the maternal copy of the gene will result in disease, whereas a mutation in the paternal copy will have no effect. Exome sequencing in four new patients with developmental delay and central hypotonia revealed de novo G236R mutations. Older members of a previously reported Arab–Israeli family have intellectual disability of variable severity, persistent feeding difficulties in infancy with dysphagia of liquids and dysphonia with a muffled voice in early adulthood, generalized hypotonia, weakness of proximal muscles, elongated face with narrow bitemporal diameter, and reduced facial movements. We describe the clinical features in four recently recognized younger patients and compare them with those found in members of the originally reported Arab–Israeli family and suggest this may be a treatable disorder. © 2016 Wiley Periodicals, Inc.
Complex study of the physiological role of cadmium. III. Cadmium loading trials on broiler chickens.

Cadmium (Cd) loading trials were conducted on a total of 110 (3 x 10 and 4 x 20) broiler chickens prereared for 21 days. The control chickens received no cadmium, while chickens in the six treatment groups were given different doses of Cd as an aqueous solution of CdSO4 administered either into the crop or mixed in the feed. The chickens were kept in a climatized animal house and treated usually for 3-5 weeks (maximum 68 days), with the exception of group Cd-75 chickens which were treated up to 239 days of age. The chickens' health status, body mass and feed consumption were monitored throughout the trial. On days 14-20 and on day 42 of the trial 2 chickens per group, then at the end of trial a total of 25 chickens were killed in anaesthesia. These birds, together with chickens that died or were killed during the trial, were subjected to detailed gross pathological examination. From 11 organs (kidney, liver, spleen, testicle, brain, myocardium, skeletal muscle, lungs, digestive tract, pancreas, tubular bones) of these chickens samples were taken for assay for a total of 16 elements, as well as for light and electron microscopic examination. With the exception of groups Cd-30 and Cd-600, no abnormal clinical signs were observed in the first two weeks of the trial. Chickens of group Cd-30 died before day 8-12 of the trial among signs of complete anorexia, rapid emaciation, huddling and diarrhoea, while chickens of group Cd-600 died before day 28, showing similar clinical signs. The body mass of chickens fed a Cd-supplemented diet either remained constant or decreased substantially, in a degree proportional to the Cd load. The only exception was group Cd-2.5, in which the average body mass of birds at the end of week 8 slightly exceeded that of the controls. Four out of the 10 cockerel chicks fed a diet containing 75 ppm Cd up to 239 days of age died of intercurrent diseases; the remaining six grew well and reached a body mass of 3.8-4.3 kg. Feed conversion efficiency was satisfactory in the control group and in group Cd-2.5 (2.1 and 2.4 kg, respectively) and could not be evaluated in a realistic manner in the other groups. At necropsy, the cockerel chicks of groups Cd-30 and Cd-600 showed severe emaciation, liver and kidney degeneration, myocardial hypertrophy and cardiac dilatation. (ABSTRACT TRUNCATED AT 400 WORDS)
Otx1l, Otx2 and Irx1b establish and position the ZLI in the diencephalon

The thalamic complex is the major sensory relay station in the vertebrate brain and comprises three developmental subregions: the prethalamus, the thalamus and an intervening boundary region - the zona limitans intrathalamica (ZLI). Shh signalling from the ZLI confers regional identity of the flanking subregions of the ZLI, making it an important local signalling centre for regional differentiation of the diencephalon. However, our understanding of the mechanisms responsible for positioning the ZLI along the neural axis is poor. Here we show that, before ZLI formation, both Otx1l and Otx2 (collectively referred to as Otx1l/2) are expressed in spatially restricted domains. Formation of both the ZLI and the Irx1b-positive thalamus require Otx1l/2; embryos impaired in Otx1l/2 function fail to form these areas, and, instead, the adjacent pretectum and, to a lesser extent, the prethalamus expand into the mis-specified area. Conditional expression of Otx2 in these morphant embryos cell-autonomously rescues the formation of the ZLI at its correct location. Furthermore, absence of thalamic Irx1b expression, in the presence of normal Otx1l/2 function, leads to a substantial caudal broadening of the ZLI by transformation of thalamic precursors. We therefore propose that the ZLI is induced within the competence area established by Otx1l/2, and is posteriorly restricted by Irx1b.
Activation-dependent Hindrance of Photoreceptor G Protein Diffusion by Lipid Microdomains*

The dynamics of G protein-mediated signal transduction depend on the two-dimensional diffusion of membrane-bound G proteins and receptors, which has been suggested to be rate-limiting for vertebrate phototransduction, a highly amplified G protein-coupled signaling pathway. Using fluorescence recovery after photobleaching (FRAP), we measured the diffusion of the G protein transducin α-subunit (Gαt) and the G protein-coupled receptor rhodopsin on disk membranes of living rod photoreceptors from transgenic Xenopus laevis. Treatment with either methyl-β-cyclodextrin or filipin III to disrupt cholesterol-containing lipid microdomains dramatically accelerated diffusion of Gαt in its GTP-bound state and of the rhodopsin-Gαβγt complex but not of rhodopsin or inactive GDP-bound Gαβγ. These results imply an activity-dependent sequestration of G proteins into cholesterol-dependent lipid microdomains, which limits diffusion and exclude the majority of free rhodopsin and the free G protein heterotrimer. Our data offer a novel demonstration of lipid microdomains in the internal membranes of living sensory neurons.
Characterization of a T5-Like Coliphage, SPC35, and Differential Development of Resistance to SPC35 in Salmonella enterica Serovar Typhimurium and Escherichia coli

ABSTRACT The potential of bacteriophage as an alternative biocontrol agent has recently been revisited due to the widespread occurrence of antibiotic-resistant bacteria. We isolated a virulent bacteriophage, SPC35, that can infect both Salmonella enterica serovar Typhimurium and Escherichia coli. Morphological analysis by transmission electron microscopy and analysis of its 118,351-bp genome revealed that SPC35 is a T5 group phage belonging to the family Siphoviridae. BtuB, the outer membrane protein for vitamin B12 uptake, was found to be a host receptor for SPC35. Interestingly, resistant mutants of both E. coli and S. Typhimurium developed faster than our expectation when the cultures were infected with SPC35. Investigation of the btuB gene revealed that it was disrupted by the IS2 insertion sequence element in most of the resistant E. coli isolates. In contrast, we could not detect any btuB gene mutations in the resistant S. Typhimurium isolates; these isolates easily regained sensitivity to SPC35 in its absence, suggesting phase-variable phage resistance/sensitivity. These results indicate that a cocktail of phages that target different receptors on the pathogen should be more effective for successful biocontrol.
Supplementary information, Figure S1

Unmodified TALEs were insufficient to visualize centromeres in four tumor cell lines. (A) Co-localization analysis of EGFP-TALE centro (green) and centromeric FISH (red) signals in U2OS, HeLa, HepG2, and MCF7 cells. EGFP-TALE centro was designed using a 19-bp centromeric DNA sequence. Dashed lines indicate the nuclear boundary; arrowheads indicate overlapping signals. Scale bars, 5 mm. (B) Histograms showing numbers of centromeric FISH-or EGFP-TALE centro (19 bp)-positive dots in nuclei of indicated cell lines. n = 50 nuclei per line. (C) The absence of co-localization between EGFP-TALE telo (green) and nucleolin (red, IF) in U2OS and HeLa cells, respectively. Dashed lines indicate the nuclear boundary. Scale bars, 5 mm. (D) The absence of co-localization between EGFP-TALE centro (green) and nucleolin (red, IF) in U2OS and HeLa cells, respectively. Dashed lines indicate the nuclear boundary. Scale bars, 5 mm.
Snail-related transcriptional repressors are required in Xenopus for both the induction of the neural crest and its subsequent migration.

The neural crest is a transient population of precursor cells that arises at the border between the neural plate and prospective epidermis in vertebrate embryos. The earliest known response to neural-crest-inducing signals is the expression of the zinc-finger transcription factors slug and snail. Although it is widely believed that these transcription factors play an essential role in neural crest development, relatively little is understood about their mechanism of action during this process. We have previously shown that overexpression of XSlug leads to expanded expression of neural crest markers and an excess of at least one neural crest derivative, melanocytes. In order to further investigate XSlug function, we overexpressed mutant constructs in which the DNA-binding domain was fused to either the activation domain from Gal4 or the repressor domain from Drosophila Engrailed. The Engrailed repressor fusion was found to mimic the effects of wild-type XSlug, indicating that XSlug functions as a transcriptional repressor during neural crest formation. In contrast, overexpression of either the activation domain fusion or the DNA-binding domain alone was found to inhibit XSlug function. Using a hormone-inducible inhibitory mutant, we show that inhibition of XSlug function at early stages prevents the formation of neural crest precursors, while inhibition at later stages interferes with neural crest migration, demonstrating for the first time that this transcriptional repressor is required during multiple stages of neural crest development.
BILATERAL DIFFERENCES IN THE NET JOINT TORQUES DURING THE SQUAT EXERCIS

Bilateral movements are common in human movement, both as exercises and as daily activities. Because the movement patterns are similar, it is often assumed that there are no bilateral differences (BDs; differences between the left and right sides) in the joint torques that are producing these movements. The aim of this investigation was to test the assumption that the joint torques are equal between the left and right lower extremities by quantifying BDs during the barbell squat. Eighteen recreationally trained men (n = 9) and women (n = 9) completed 3 sets of 3 repetitions of the squat exercise, under 4 loading conditions: 25, 50, 75, and 100% of their 3 repetition maximum, while instrumented for biomechanical analysis. The average net joint moment (ANJM) and maximum flexion angle (MFA) for the hip, knee, and ankle as well as the average vertical ground reaction force (AVGRF) and the average distance from the ankle joint center to the center of pressure (ADCOP) were calculated. Group mean and individual data were analyzed (α = 0.05). At each joint, there was a significant main effect for side and load, no main effect for gender, with few significant interactions. The hip ANJM was 12.4% larger on the left side, the knee ANJM was 13.2% larger on the right side, and the ankle ANJM was 16.8% larger on the left side. Differences in MFAs between sides were less than 2 degrees for all 3 joints (all p ≥ 0.20 except for the knee at 75% [p = 0.024] and 100% [p = 0.025]), but the AVGRF and the ADCOP were 6% and 11% larger on the left side. Few subjects exhibited the pattern identified with the group mean data, and no subject exhibited nonsignificant BDs for all 3 joints. These findings suggest that joint torques should not be assumed to be equal during the squat and that few individual subjects follow the pattern exhibited by group mean data.
Evidence that Extracellular Concentrations of Dopamine Are Regulated by Noradrenergic Neurons in the Frontal Cortex of Rats

Abstract: Experiments were performed to confirm that noradrenergic terminals regulate extracellular concentrations of dopamine (DA) in the frontal cortex of rats. The effects of 20 mg/kg 1‐[2‐[bis(4‐fluorphenyl)methoxy]‐ethyl]‐4‐(3‐phenylpropyl)piperazine (GBR 12909), a selective inhibitor of DA uptake, and 2.5 mg/kg desipramine (DMI) on the extracellular concentrations of DA in the frontal cortex and striatum were studied in rats given 6‐hydroxydopamine (6 µg/µl) bilaterally into the locus coeruleus to destroy noradrenergic terminals. GBR 12909 increased dialysate DA similarly in the striatum of vehicle and 6‐hydroxydopamine‐treated rats, whereas in the frontal cortex it raised DA concentrations only in lesioned animals. DMI raised extracellular DA concentrations in the frontal cortex but not in the striatum of controls. The effect of DMI on cortical DA was abolished by the 6‐hydroxydopamine lesion. GBR 12909, at a subcutaneous dose of 20 mg/kg, further increased cortical dialysate DA in rats given DMI intraperitoneally at 20 mg/kg or through the probe at 10−5 mol/L. The data support the hypothesis of an important regulation of the extracellular concentrations of DA in the frontal cortex by noradrenergic terminals.
Characteristics of spontaneous and evoked EPSPs recorded from dentate spiny hilar cells in rat hippocampal slices.

1. Excitation of the spiny subtype of hilar neurons in the fascia dentata was characterized by intracellular recording from hilar cells in hippocampal slices. Stimulation of the outer molecular layer was used to activate the perforant path. Evoked responses were examined, as well as the large spontaneous excitatory potentials that are a distinctive characteristic of spiny hilar cells. 2. Excitatory potentials that occurred spontaneously, as well as those that occurred in response to outer molecular layer stimulation, were similar among the cells that were sampled, regardless of morphological variations such as the presence or absence of thorny excrescences. Spontaneous and evoked excitatory postsynaptic potentials (EPSPs) were complex depolarizations that often had several discrete peaks. Spontaneous EPSPs increased in amplitude slightly with hyperpolarization, and evoked EPSPs clearly increased with hyperpolarization. 3. Applications of selective antagonists of excitatory amino acid receptors were used to determine which excitatory amino acid receptor mediates EPSPs of these cells. 6-cyano-7-nitroquinoxaline-2,3-dione (CNQX) was used to block the receptor subtype selective for the agonists alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) and kainic acid (the "AMPA/kainate" receptor). 2-amino-5-phosphonovaleric acid (APV) was used to block receptors specific for the agonist N-methyl-D-aspartate (NMDA; the "NMDA" receptor). Perfusion with CNQX (5-25 microM) completely blocked all spontaneous and evoked excitation, even when activity was examined at relatively depolarized membrane potentials and a low concentration of extracellular magnesium (0.5 mM) was used. Under these conditions, APV (25-50 microM) had no detectable effect on spontaneous activity but did increase the stimulus strength required to elicit responses to outer molecular layer stimulation. 4. When extracellular magnesium was lowered to 0 mM (nominally), there was strong evidence for a contribution of NMDA receptors to spontaneous and evoked EPSPs. Thus, when cells were perfused with 0 mM extracellular magnesium and 5 microM CNQX, spontaneous depolarizations were present and EPSPs could be triggered by stimulation of the outer molecular layer. Both the spontaneous and evoked EPSPs were blocked by 25 microM APV. 5. Because gamma-aminobutyric acid (GABA)A receptors can cause depolarizations in hippocampal neurons, the GABAA receptor antagonist bicuculline was used to determine whether some of the EPSPs were mediated by GABAergic neurons that are normally activated by spontaneous release of excitatory amino acids. Bicuculline (5-25 microM) had no effect on spontaneous depolarizations, and led to an enhancement of evoked depolarizations. Therefore it does not appear that GABAA receptor-mediated depolarizations contribute to hilar cell depolarizations. (ABSTRACT TRUNCATED AT 400 WORDS)
The Transracial Adoption Paradox

The number of transracial adoptions in the United States, particularly international adoptions, is increasing annually. Counseling psychology as a profession, however, is a relatively silent voice in the research on and practice of transracial adoption. This article presents an overview of the history and research on transracial adoption to inform counseling psychologists of the set of racial and ethnic challenges and opportunities that transracial adoptive families face in everyday living. Particular attention is given to emergent theory and research on the cultural socialization process within these families.
Mexicans in Kansas City: The First Generation, 1900-1920

c. pecialists in the ethnic history of the United States increasingly have come to recognize that persons of Mexican descent constitute a truly national minority whose presence extends far beyond the traditionally defined "Spanish Borderlands" region. In the Midwest and Great Plains, for example, significant Mexican' colonias have existed in Chicago, Detroit, Gary, Omaha, Kansas City, Oklahoma City, and numerous smaller urban areas for as long as 75 years. Despite the number and longevity of these communities, scholars have undertaken relatively few systematic examinations of their history and internal dynamics. One historian recently decried the lack of a comprehensive history of people of Mexican descent in the Midwest; he challenged his colleagues to revise and reexamine existing studies, seek additional sources of information, and develop research models in order to produce a more accurate and comprehensive history of this group.2 Before such an encompassing synthesis is possible, however, considerably more spade work in specific localities throughout the region is necessary. An examination of the foundation and early development of the Kansas City' colonia between 1900 and 1920 provides insights into the patterns and processes which marked the rise of significant Mexican immigrant settlements throughout the Great Plains, the Midwest, and elsewhere beyond the borderlands. This period witnessed the arrival and settlement of thousands of Mexican immigrants who, despite an alien and frequently hostile environment, survived prejudice and hardship, created institutions
Modeling European Health Regional Systems through a Directional Distance Function Metafrontier Framework. Are There Any Differences?

The current and future performance of regional health systems is responsible for increasing health costs and it depends on a wide range of contextual factors. Studies on regional health productive performance and on different health systems are scarce. This paper focuses on the efficiency of European healthcare systems at regional level across Europe, taking into account undesirable outcomes. Our analysis is based on data for a 14-year period (2000-2013) from a unique balanced panel comprising 185 European regions in 17 EU countries. Adopting a metafrontier directional distance function we investigate whether there is an actual difference in terms of efficiency performance among European regions considering the health system under which they operate. It is found that there are no great differences in terms of convergence among the groups, irrespective of the health system types. When the whole sample is considered, there is a convergence toward two levels of efficiency. Focusing on the distribution of technological gap over time, we found that the three systems did not allow its reduction homogeneously among the regions. The 2008 crisis may have played a crucial role in determining a different process of polarization among groups.
Distributed MEMS transmission line-based uniplanar compact electromagnetic bandgap (UC-EBG) tunable filters

This paper presents a compact RF microelectromechanical system (RF MEMS) tunable filter which is based on electromagnetic bandgap (EBG) structures. The frequency response for the proposed bandstop filter has been investigated through finite element analysis (FEA). By studying the distributions of electric and magnetic fields, we have examined the impact of geometric parameters on filter's centre frequency and optimized the design for Ka-band application. The numerical calculations reveals that the tunable bandstop filter achieves a tuning range from 29.2 GHz to 30.3 GHz.
Psynteraction chair: A proposal of a system for induction of interpersonal behavior by using comic book images as ambient information

In this paper, we proposed an experimental system named “Psynteraction Chair. ” The chair presents comic book images as ambient information, which describes psychological state of the user in order to change behavior of people around of the user. Human change behavior to others depending on others' psychological state estimated from the face and action. if the face and action of them is blinded, they can not take a preferable action to them. Recently, the technology to change behavior of people implicitly based on computer-generated ancient information and stimulations that prompts physical senses to have been studied in virtual reality. These studies aim to adopt their behavior to their surrounding environment mainly. The technologies to adopt their behavior to the individual in the context of his/her psychological state have not really investigated. We focused on comic book images as ambient information. The creative use of image of background in comic have an ability to describe and communicate various psychological states or situation of characters in the comic. We hypothesized that communicating of comic book images that describes personal psychological states enable us to understand the state and induce the preferred behavior in real world. Based on the hypothesis, we construct a system named “Psynteraction Chair,” which is a system to estimate and present psychological states of a user using comic book images to people around of the user. “Psynteraction Chair” estimates the level of concentration of the user. A comic book image which represents the most suitable psychological state is projected on the back of the chair based on the level of user's concentration. We tested how Psynteraction Chair influences in communication of the user and people around the user. As the result, the system realized that comic book images used in the experiment affect impression of the user's psychological state that people around the user of the system had. Also the possibility that projected comic book images can induce the people's behavior to the user was suggested.