Miracle-dz/UniFAR-FTUs huggingface dataset:
Phenotype-Genotype Correlations in Mouse Models of Amelogenesis Imperfecta Caused by Amelx and Enam Mutations

Mutations in human and in mouse orthologous genes Amelx and Enam result in a diverse range of enamel defects. In this study we aimed to investigate the phenotype-genotype correlation between the mutants and the wild-type controls in mouse models of amelogenesis imperfecta using novel measurement approaches. Ten hemi-mandibles and incisors were dissected from each group of AmelxWT, AmelxX/Y64H, AmelxY/Y64H, AmelxY64H/Y64H, and EnamWT, EnamRgsc395 heterozygous and EnamRgsc395 homozygous mice. Their macro-morphology, colour and micro-topography were assessed using bespoke 2D and 3D image analysis systems and customized colour and whiteness algorithms. The novel methods identified significant differences (p ≤ 0.05) between the Amelx groups for mandible and incisor size and enamel colour and between the Enam groups for incisor size and enamel colour. The AmelxWT mice had the largest mandibles and incisors, followed in descending order of size by the AmelxX/Y64H, AmelxY/Y64H and AmelxY64H/Y64H mice. Within the Enam groups the EnamWT incisors were largest and the EnamRgsc395 heterozygous mice were smallest. The effect on tooth morphology was also reflected by the severity of the enamel defects in the colour and whiteness assessment. Amelogenin affected mandible morphology and incisor enamel formation, while enamelin only affected incisors, supporting the multifunctional role of amelogenin. The enamelin mutation was associated with earlier forming enamel defects. The study supported the critical involvement of amelogenin and enamelin in enamel mineralization.
SPERM DEPENDENCE OF FEMALE RECEPTIVITY TO REMATING IN DROSOPHILA MELANOGASTER

As a consequence of copulation, males of Drosophila melanogaster induce a variety of physiological and behavioral effects in the female. Egg production and oviposition are stimulated by products of the male's accessory glands (Kummer, 1960; Garcia-Bellido, 1964; Merle, 1968; Bumet et al., 1973), and female attractiveness and receptivity are both reduced following copulation. Changes in female attractiveness are mediated pheromonally. A change in pheromonal profile from courtship-eliciting to courtship-discouraging pheromones is induced during the first 3 min of copulation (Tompkins et al., 1980; Tompkins and Hall, 1981; Venard and Jallon, 1980). The seminal fluid enzyme esterase-6 metabolizes the seminal fluid component cis-vaccenyl acetate to produce the antiaphrodisiac cis-vaccenyl alcohol (Mane et al., 1983). Behavioral effects of this metabolite on female attractiveness have been demonstrated and have been shown to be short-lived. There is a close correspondence between the time course of these behavioral effects and those first identified by Manning (1967) as the "copulation effect. " Manning (1962, 1967) also identified a "sperm effect" on female receptivity which is longer lasting and causes females to remain unreceptive to male courtship. The strength of the sperm effect seems to be proportional to the number of sperm in storage (Gromko and Pyle, 1978; Gromko et al., 1984). The sperm effect is characterized behaviorally by the use of ovipositor extrusion to reject males, a behavior used only in very low frequency by virgin females (Connolly and Cook, 1973; Tompkins and Hall, 1981). The "sperm effect" -or the sperm dependence of the return of female receptivity-is not evident when mated females are confined with second males continuously for 24 h (Newport and Gromko, 1984). In this paper we investigate the details of the sperm dependence of female receptivity within the context of an experimental design which allows females periodic interactions with second males. We also quantify the impact of sperm-dependent female receptivity on the reproductive outcome of double matings. We show that by causing females to delay remating, first males suffer very little reduction in reproductive success due to female remating.
Detection of Obstructive Sleep Apnea from the Frequency Analysis of Heart Rate Variability

This paper presents a new algorithm for the detection of Obstructive Sleep Apnea (OSA) from a single electrocardiogram lead. It is based on the alterations that OSA patients present in the LF and HF bands of the heart rate variability power spectrum. The algorithm calculates the power of the spectrum in two bands that roughly corresponding with the LF and HF bands. Then the ratio between the power of the low band and the power of the high band is obtained. If this ratio is greater than a certain threshold the patient is classified as having OSA, otherwise he/she is classified as not having OSA. Then the algorithm was validated over the test data set of the Apnea-ECG Database, classifying correctly 29 of 30 recordings.
Different Dystrophin-like Complexes Are Expressed in Neurons and Glia

Duchenne muscular dystrophy is a fatal muscle disease that is often associated with cognitive impairment. Accordingly, dystrophin is found at the muscle sarcolemma and at postsynaptic sites in neurons. In muscle, dystrophin forms part of a membrane-spanning complex, the dystrophin-associated protein complex (DPC). Whereas the composition of the DPC in muscle is well documented, the existence of a similar complex in brain remains largely unknown. To determine the composition of DPC-like complexes in brain, we have examined the molecular associations and distribution of the dystrobrevins, a widely expressed family of dystrophin-associated proteins, some of which are components of the muscle DPC. β-Dystrobrevin is found in neurons and is highly enriched in postsynaptic densities (PSDs). Furthermore, β-dystrobrevin forms a specific complex with dystrophin and syntrophin. By contrast, α-dystrobrevin-1 is found in perivascular astrocytes and Bergmann glia, and is not PSD-enriched. α-Dystrobrevin-1 is associated with Dp71, utrophin, and syntrophin. In the brains of mice that lack dystrophin and Dp71, the dystrobrevin–syntrophin complexes are still formed, whereas in dystrophin-deficient muscle, the assembly of the DPC is disrupted. Thus, despite the similarity in primary sequence, α- and β-dystrobrevin are differentially distributed in the brain where they form separate DPC-like complexes.
Cutaneous Manifestations of Blastic Plasmacytoid Dendritic Cell Neoplasm—Morphologic and Phenotypic Variability in a Series of 33 Patients

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a neoplasm derived from precursors of plasmacytoid dendritic cells. Cutaneous involvement represents often the first manifestation of the disease. We studied 45 skin biopsies from 33 patients (M:F=7.25:1; median age: 71 y; age range: 30 to 89) with BPDCN to delineate histopathologic and immunophenotypic features of this disease. Patients presented with generalized (n=18), localized (n=6), or solitary (n=9) macules, plaques, and/or tumors. Staging investigations at presentation were negative in 20 patients. Unusual histologic features included a perivascular/periadnexal pattern (6 biopsies from 4 patients) and the presence of pleomorphism of neoplastic cells with blastoid cells admixed with elongated, twisted, or hyperchromatic cells (observed in 24 specimens). Negativity of 1 among the 4 markers CD4, CD56, CD123, and TCL-1 was seen in 11 biopsies, and of 2 markers in 4 biopsies. Staining for CD68 revealed positivity of the majority of cells in 1 and of scattered cells in 24/37 stained cases. Terminal deoxynucleotidyl transferase was observed in 22/37 stained cases. Staining for Bcl-6, MUM-1 and FOX-P1 revealed positivity of a variable proportion of neoplastic cells in 16/30, 19/29, and 21/23 cases, respectively. Our study shows that cutaneous lesions of BPDCN display a greater variability of morphologic and phenotypic features than recognized earlier. Discrete perivascular infiltrates, pleomorphic morphology of neoplastic cells, and unusual phenotypic profiles may be the source of diagnostic pitfalls. These atypical variants should be recognized to make an early diagnosis and to manage properly patients with this aggressive hematological disorder.
A High-Throughput Fatty Acid Profiling Screen Reveals Novel Variations in Fatty Acid Biosynthesis in Chlamydomonas reinhardtii and Related Algae

ABSTRACT Analysis of fatty acid methyl esters (FAMEs) by gas chromatography (GC) is a common technique for the quantitative and qualitative analysis of acyl lipids. Methods for FAME preparation are typically time-consuming and labor-intensive and require multiple transfers of reagents and products between reaction tubes and autosampler vials. In order to increase throughput and lower the time and materials costs required for FAME preparation prior to GC analysis, we have developed a method in which 10-to-20-mg samples of microbial biomass are transferred to standard GC autosampler vials, transesterified using an emulsion of methanolic trimethylsulfonium hydroxide and hexane, and analyzed directly by GC without further sample handling. This method gives results that are essentially identical to those obtained by the more labor- and material-intensive FAME preparation methods, such as transmethylation with methanolic HCl. We applied this method to the screening of laboratory and environmental isolates of the green alga Chlamydomonas for variations in fatty acid composition. This screening method facilitated two novel discoveries. First, we identified a common laboratory strain of C. reinhardtii, CC-620, completely lacking all ω-3 fatty acids normally found in this organism and showed that this strain contains an inactivating mutation in the CrFAD7 gene, encoding the sole ω-3 desaturase activity in this organism. Second, we showed that some species of Chlamydomonas make Δ6-unsaturated polyunsaturated fatty acids (PUFA) rather than the Δ5 species normally made by the previously characterized laboratory strains of Chlamydomonas, suggesting that there is species-specific variation in the regiospecificity and substrate selectivity of front-end desaturases in this algal genus.
Prediction of crack density and electrical resistance changes in indium tin oxide/polymer thin films under tensile loading

We present unified predictions for the crack onset strain, evolution of crack density, and changes in electrical resistance in indium tin oxide/polymer thin films under tensile loading. We propose a damage mechanics model to quantify and predict such changes as an alternative to fracture mechanics formulations. Our predictions are obtained by assuming that there are no flaws at the onset of loading as opposed to the assumptions of fracture mechanics approaches. We calibrate the crack onset strain and the damage model based on experimental data reported in the literature. We predict crack density and changes in electrical resistance as a function of the damage induced in the films. We implement our model in the commercial finite element software ABAQUS using a user subroutine UMAT. We obtain fair to good agreement with experiments.
Live demonstration: A 768 × 640 pixels 200Meps dynamic vision sensor

We demonstrate a high resolution Dynamic Vision Sensor (DVS) with 768 × 640 pixels, and 200Meps (event per second) high speed readout. The sensor has a dual-channel synchronous interface and can operate at 100 MHz. It has a few unique features, namely three-in-one (coordinate, brightness and time stamp) event packet, capability of producing full-array picture-on-demand [1] and on-chip optical flow computation. The sensor will find broad applications in real-time machine vision.
Axonal transport of cytoskeletal proteins in oculomotor axons and their residence times in the axon terminals

Cytoskeletal protein transport and metabolism are studied in the somatic motor and parasympathetic axons of the chicken oculomotor system. Kinetic analyses of pulse-labeled proteins indicate that the neurofilaments are transported 2–3 times more rapidly in the somatic motor axons than in the parasympathetic axons. By contrast, the transport rates of the slow component b (SCb) proteins are very similar in these axons. The parasympathetic axons terminate in the ciliary ganglion, and radiolabeling curves from the ciliary ganglion can be used to study the kinetics of cytoskeletal protein removal from the terminals. The rate of removal directly determines the residence time of the cytoskeletal proteins in the ciliary ganglion, and the residence time directly affects the shape and amplitude of the transport curves of the ganglion. A computer model was used to analyze these transport curves and to determine the half-residence time of the cytoskeletal proteins in the terminal regions. From the computer experiments, we estimate that the half-residence times of the neurofilament proteins actin and tubulin are 2, 3.5, and 7 d, respectively. The differences between the half-residence times of the cytoskeletal proteins indicate that the rate of protein removal from the terminals differs for these proteins. On the basis of these results, we propose that the removal mechanisms critically control the composition of the cytoskeleton in the terminal regions. Through their effects on its composition, the removal mechanisms have a crucial role in converting the cytoskeleton of the axon proper into the specialized cytoskeleton of the axon terminal.
Generation of a Homogeneous Glow Discharge in Air at Atmospheric Pressure

A glow discharge has been experimentally investigated in air at atmospheric pressure using two different electrode configurations of a perforated aluminium sheet and stainless steel wire mesh. The observations of the Lissajous figure of voltage-electric charges is used as a method of distinguishing between the glow discharge produced by perforated aluminium sheet and stainless steel wire mesh. The perforated material shows a better glow discharge stabilization than that of stainless steel wire mesh.
A formal treatment of the barendregt variable convention in rule inductions

Barendregt's variable convention simplifies many informal proofs in the λ-calculus by allowing the consideration of only those bound variables that have been suitably chosen. Barendregt does not give a formal justification for the variable convention, which makes it hard to formalise such informal proofs. In this paper we show how a form of the variable convention can be built into the reasoning principles for rule inductions. We give two examples explaining our technique.
[3,4-methylenedioxymethamphetamine ('ecstasy'): its long-term emotional and cognitive effects, and serotonin depletion].

AIMS The main objective of this study is to describe the different neuropsychological deficits associated to the consumption of 3,4-methylenedioxymethamphetamine (MDMA or 'ecstasy'), as well as the growing evidence that attributes these deficits to the selective axonal damage to serotoninergic cells brought about by this substance. DEVELOPMENT MDMA is an amphetamine derivative that, like its precursor, has properties as a stimulant. Part of its chemical structure is similar to that of the hallucinogen mescaline with which it shares the capacity to alter perception. Nevertheless, the primary pharmacological effect of this substance, which is what usually leads to its use and abuse, is chiefly linked to an intense positive emotional state. This effect on the individual's mood is also usually accompanied by numerous feelings of empathy, sociability and closeness, which turn this drug into a powerful entactogenic agent (a term used in psychotherapy to describe a state of wellbeing, closeness and emotional self-awareness produced by certain compounds). The antidepressant and entactogenic effects induced by an acute dose of MDMA can be accounted for by the notable increase in serotonin bioavailability triggered by the drug. Repeated consumption of MDMA, however, ends up affecting many functions that have been related to the serotoninergic systems, such as sleep, appetite, attention and memory, or one's emotional state. CONCLUSIONS Most of the neuropsychological disorders found in individuals who take ecstasy on a regular basis can be explained by the selective neurodegeneration processes that the drug appears to produce in the serotonin terminals of the brain in the long run.
Mouse Emi2 as a distinctive regulatory hub in second meiotic metaphase

The oocytes of vertebrates are typically arrested at metaphase II (mII) by the cytostatic factor Emi2 until fertilization. Regulatory mechanisms in Xenopus Emi2 (xEmi2) are understood in detail but contrastingly little is known about the corresponding mechanisms in mammals. Here, we analyze Emi2 and its regulatory neighbours at the molecular level in intact mouse oocytes. Emi2, but not xEmi2, exhibited nuclear targeting. Unlike xEmi2, separable N- and C-terminal domains of mouse Emi2 modulated metaphase establishment and maintenance, respectively, through indirect and direct mechanisms. The C-terminal activity was mapped to the potential phosphorylation target Tx5SxS, a destruction box (D-box), a lattice of Zn2+-coordinating residues and an RL domain. The minimal region of Emi2 required for its cytostatic activity was mapped to a region containing these motifs, from residue 491 to the C terminus. The cytostatic factor Mos-MAPK promoted Emi2-dependent metaphase establishment, but Mos autonomously disappeared from meiotically competent mII oocytes. The N-terminal Plx1-interacting phosphodegron of xEmi2 was apparently shifted to within a minimal fragment (residues 51-300) of mouse Emi2 that also contained a calmodulin kinase II (CaMKII) phosphorylation motif and which was efficiently degraded during mII exit. Two equimolar CaMKII γ isoform variants were present in mII oocytes, neither of which phosphorylated Emi2 in vitro, consistent with the involvement of additional factors. No evidence was found that calcineurin is required for mouse mII exit. These data support a model in which mammalian meiotic establishment, maintenance and exit converge upon a modular Emi2 hub via evolutionarily conserved and divergent mechanisms.
Send Orders of Reprints at Reprints@benthamscience.org Planar Cell Polarity Signaling in Collective Cell Movements during Morphogenesis and Disease

Collective and directed cell movements are crucial for diverse developmental processes in the animal kingdom, but they are also involved in wound repair and disease. During these processes groups of cells are oriented within the tissue plane, which is referred to as planar cell polarity (PCP). This requires a tight regulation that is in part conducted by the PCP pathway. Although this pathway was initially characterized in flies, subsequent studies in vertebrates revealed a set of conserved core factors but also effector molecules and signal modulators, which build the fundamental PCP machinery. The PCP pathway in Drosophila regulates several developmental processes involving collective cell movements such as border cell migration during oogenesis, ommatidial rotation during eye development, and embryonic dorsal closure. During vertebrate embryogenesis, PCP signaling also controls collective and directed cell movements including convergent extension during gastrulation, neural tube closure, neural crest cell migration, or heart morphogenesis. Similarly, PCP sig-naling is linked to processes such as wound repair, and cancer invasion and metastasis in adults. As a consequence, disruption of PCP signaling leads to pathological conditions. In this review, we will summarize recent findings about the role of PCP signaling in collective cell movements in flies and vertebrates. In addition, we will focus on how studies in Dro-sophila have been relevant to our understanding of the PCP molecular machinery and will describe several developmental defects and human disorders in which PCP signaling is compromised. Therefore, new discoveries about the contribution of this pathway to collective cell movements could provide new potential diagnostic and therapeutic targets for these disorders .
Cross-Sectional Study of Sleep Quantity and Quality and Amnestic and Non-Amnestic Cognitive Function in an Ageing Population: The English Longitudinal Study of Ageing (ELSA)

Background The aim was to investigate the association between sleep disturbances and cognitive function in younger and older individuals from an ageing population. Methods 3,968 male and 4,821 female white participants, aged 50 years and over, from the English Longitudinal Study of Ageing (ELSA) were studied. Information on sleep quality and quantity as well as both amnestic (memory, ACF) and non-amnestic (non-memory, nACF) function was available at Wave 4 (2008). Analysis of covariance was used to evaluate the relationship between sleep and cognitive function. Results After adjustment for multiple confounders in the younger group (50–64 years) duration of sleep explained 15.2% of the variance in ACF (p = 0.003) and 20.6% of nACF (p = 0.010). In the older group (65+ years) the estimates were 21.3% (p<0.001) and 25.6% (p<0.001), respectively. For sleep quality, there was a statistically significant association between sleep quality and both ACF (p<0.001) and nACF (p<0.001) in the older age group, but not in the younger age group (p = 0.586 and p = 0.373, respectively; interaction between age and sleep quality in the study sample including both age groups: p<0.001 for ACF and p = 0.018 for nACF). Sleep quality explained between 15.1% and 25.5% of the variance in cognition. The interaction with age was independent of duration of sleep. At any level of sleep duration there was a steeper association between sleep quality and ACF in the older than the younger group. Conclusions The associations between sleep disturbances and cognitive function vary between younger and older adults. Prospective studies will determine the temporal relationships between sleep disturbances and changes in cognition in different age groups.
An Insidious Nosocomial Outbreak Due to Salmonella enteritidis

Abstract Objectives: To investigate an increase in the number of Salmonella enteritidis isolates detected in a large hospital to ascertain whether it was due to a nosocomial source, to identify the mechanisms of transmission, and to institute effective control measures to prevent future episodes. Design: Observational study, survey of all microbiological samples positive for S. enteritidis detected in the hospital, outbreak investigation, and review of the literature. Setting: A tertiary-care teaching hospital for adults in Barcelona, Spain. Results: During a 7-month period from May to November 1998, we identified 22 inpatients with S. enteritidis infection for whom nosocomial acquisition was strongly suspected. The attack rate was 0.138 per 1,000 patient-days. All affected patients were immunosuppressed and overall mortality was 41% (9 of 22). A sample of a meal cooked in the kitchen was culture positive for S. enteritidis. All isolates shared the same antibiotic susceptibility pattern and all except one shared the same pulsed-field gel electrophoresis (PFGE) pattern, but PFGE could not differentiate between outbreak-related and control strains. After compliance with kitchen hygiene procedures was emphasized and cleansing was intensified, no more cases were detected. Conclusions: Apparently, sporadic cases of S. enteritidis may be part of an outbreak with a low attack rate. A small but persistent inoculum affecting only individuals with special predisposition for Salmonella infection might account for this. Suspicion should be raised in hospitals and institutions with a highly susceptible population.