Miracle-dz/UniFAR-FTUs huggingface dataset:
AMH mutations with reduced in vitro bioactivity are related to premature ovarian insufficiency.

STUDY QUESTION Could anti-Müllerian hormone (AMH) mutations be implicated in the development of idiopathic premature ovarian insufficiency (POI)? SUMMARY ANSWER Three rare or unknown missense variants of the AMH gene were identified in a cohort of 55 POI patients; all three variants showed a drastically reduced in vitro bioactivity. WHAT IS KNOWN ALREADY Genetic factors are implicated in 5-15% of cases of POI. However, only a few genes have been shown to be involved in its development. AMH inhibits the recruitment of primordial follicles in the ovary and defective or absent AMH leads to premature depletion of the primordial follicle pool in AMH null mice. STUDY DESIGN, SIZE, DURATION The whole coding sequence and the exon-intron junction of the AMH gene was sequenced in a cohort of 55 POI patients recruited over a period of 8 years. The studied variants were also sequenced in 197 ethnically matched controls. PARTICIPANTS/MATERIALS, SETTING, METHODS POI was defined as amenorrhea of more than 4 months with increased FSH before the age of 40. Patients with POI resulting from radio- or chemotherapy, surgery, chromosomal anomalies or FMR1 gene pre-mutation were excluded from the study. Recombinant human wild-type (wt) and mutated AMH proteins were produced in HEK293 T cells. KK-1 cells transfected with the AMH receptor type 2 (AMHR2) and a BMP responsive element coupled to a luciferase reporter vector were stimulated with different concentrations of wt AMH and the three tested variants. MAIN RESULTS AND THE ROLE OF CHANCE The whole coding sequence of the AMH gene could be performed and analyzed for 50 POI patients: 16 variants were found, including 6 missense variants from which 1 was unknown (R444H) and 2 were very rare (G264R and D288E). The variant D288E was also found in one of the patient's mother who also underwent POI at 32 years old. The stimulation of the AMHR2 assessed by the luciferase activity was drastically reduced for the three variants when compared with the wt AMH. LIMITATIONS, REASONS FOR CAUTION The study is limited by a relatively small number of patients in the POI cohort. WIDER IMPLICATIONS OF THE FINDINGS This is the first time that the bioactivity of AMH variants related to POI patients is tested in vitro. The functional study showed a drastic reduction of the protein activity for the three variants, supporting their contribution to the development of the ovarian insufficiency. The familial segregation further supports the implication of AMH in the development of POI. STUDY FUNDING/COMPETING INTERESTS The study was performed thanks to funding from the 'Fondation Erasme'. No conflicts of interest are declared.
Compact On-Chip Bandpass Filter With Improved In-Band Flatness and Stopband Attenuation in 0.13- $\mu \text{m}$ (Bi)-CMOS Technology

In this letter, an on-chip miniaturized bandpass filter (BPF) is presented, which is based on a grounded center-tapped ring resonator (CTRR) with shunt capacitive loading. To analyze the principle of this design, a simple but effective equivalent circuit model is provided. Using this model, it is easy to show that the CTRR-based approach has a potential to generate two transmission poles within the passband. Compared with the conventional single-pole-based approach, this dual-pole design not only possesses a flexibility of controlling the passband width, but also has better flatness of insertion loss in the passband. In addition, this approach is able to significantly improve the stopband performance. To further demonstrate the feasibility of this approach in practice, the structure is implemented and fabricated in a commercial 0.13-<inline-formula> <tex-math notation="LaTeX">$\mu \text{m}$ </tex-math></inline-formula> (Bi)-CMOS SiGe technology. The measured results show that the BPF has a center frequency at 33 GHz with a bandwidth of 42.4%. The minimum insertion loss is 2.6 dB, while the stopband rejection is maintained to be better than 20 dB beyond 58 GHz. The chip, excluding the pads, is very compact at only 0.03 mm<sup>2</sup> (<inline-formula> <tex-math notation="LaTeX">$0.11\times0.28$ </tex-math></inline-formula> mm<inline-formula> <tex-math notation="LaTeX">$^{{2}}{)}$ </tex-math></inline-formula>.
Discrepancies in Outcome Reporting Exist Between Protocols and Published Oral Health Cochrane Systematic Reviews

Objectives To assess discrepancies in the analyzed outcomes between protocols and published reviews within Cochrane oral health systematic reviews (COHG) on the Cochrane Database of Systematic Reviews (CDSR). Study Design and Setting All COHG systematic reviews on the CDSR and the corresponding protocols were retrieved in November 2014 and information on the reported outcomes was recorded. Data was collected at the systematic review level by two reviewers independently. Results One hundred and fifty two reviews were included. In relation to primary outcomes, 11.2% were downgraded to secondary outcomes, 9.9% were omitted altogether in the final publication and new primary outcomes were identified in 18.4% of publications. For secondary outcomes, 2% were upgraded to primary, 12.5% were omitted and 30.9% were newly introduced in the publication. Overall, 45.4% of reviews had at least one discrepancy when compared to the protocol; these were reported in 14.5% reviews. The number of review updates appears to be associated with discrepancies between final review and protocol (OR: 3.18, 95% CI: 1.77, 5.74, p<0.001). The risk of reporting significant results was lower for both downgraded outcomes [RR: 0.52, 95% CI: 0.17, 1.58, p = 0.24] and upgraded or newly introduced outcomes [RR: 0.77, 95% CI: 0.36, 1.64, p = 0.50] compared to outcomes with no discrepancies. The risk of reporting significant results was higher for upgraded or newly introduced outcomes compared to downgraded outcomes (RR = 1.19, 95% CI: 0.65, 2.16, p = 0.57). None of the comparisons reached statistical significance. Conclusion While no evidence of selective outcome reporting was found in this study, based on the present analysis of SRs published within COHG systematic reviews, discrepancies between outcomes in pre-published protocols and final reviews continue to be common. Solutions such as the use of standardized outcomes to reduce the prevalence of this issue may need to be explored.
Effective user interface design for rescue robotics

Until robots are able to autonomously navigate, carry out a mission and report back to base, effective human-robot interfaces will be an integral part of any practical mobile robot system. This is especially the case for robot-assisted Urban Search and Rescue (USAR). Unfamiliar and unstructured environments, unreliable communications and many sensors combine to make the job of a human operator, and hence the interface designer challenging.This paper presents the design, implementation and deployment of a human-robot interface for the teleoperated USAR research robot, textsfCASTER. Proven HCI-based user interface design principles were adopted in order to produce an interface that was intuitive and minimised learning time while maximising effectiveness.The human-robot interface was deployed by Team CASualty in the 2005 RoboCup Rescue Robot League competition. This competition allows a wide variety of approaches to USAR research to be evaluated in a realistic environment. Despite the operator having less than one month of experience, Team CASualty came 3rd, beating teams that had far longer to train their operators. In particular, the ease with which the robot could be driven and high quality information gathered played a crucial part in Team CASualty's success. Further empirical evaluations of the system on a group of twelve users as well as members of the public further reinforce our belief that this interface is quick to learn, easy to use and effective.
Diabetes and Bone

Diabetes – both type 1 (T1D) and type 2 (T2D) has profound effects on the skeleton. Bone turnover is reduced, i.e. bone biopsies show a reduced bone formation with reduced mineralisation, and a reduced number of bone cells. Biochemical markers of bone turnover show a reduction in both formation and resoprtion. Bone mineral density (BMD) is reduced in T1D, whereas an increased BMD is seen in T2D. Despite this, an increased risk of hip fractures is seen in both T1D and T2D, the increase in risk of fractures being more pronounced in T1D than in T2D. This discrepancy between BMD and fracture risk along with evidence from animal studies of a reduced bone biomechanical competence in diabetes suggest that the bone tissue is weakened in patients with diabetes. This weakening may be related to glycation of collagen and formation of advanced glycation end-products (AGE), which together with their receptor (RAGE) lead to a decreased activity of the bone cells and thus a reduced turnover and a reduced de-novo formation of bone. The reduced competence despite normal BMD makes the diagnosis of osteoporosis difficult as standard bone scans (DXA) may not truly reflect bone strength. Regarding anti-diabetic treatment, most such drugs improve glucose control and thus reduce the detrimental effects of diabetes on the skeleton. However, the thiazolidinediones (rosiglitazone and pioglitazone) are associated with a decreased BMD and an increased fracture risk through an effect on the stem cells in the bone marrow leading to formation of adipocytes rather than osteoblasts. Anti-resoprtive treatment for osteoporosis seem equally effective in diabetes patients as in non-diabetics despite the reduced bone turnover in diabetes. In conclusion diabetes has many effects on bone and bone-turnover, and more research is needed.
Title: Liquid Phase Pulsed Laser Ablation: a Route to Fabricate Different Carbon Nanostructures Liquid Phase Pulsed Laser Ablation: a Route to Fabricate Different Carbon Nanostructures Liquid Phase Pulsed Laser Ablation: a Route to Fabricate Different Carbon Nanostructures

The Open University's repository of research publications and other research outputs Liquid phase pulsed laser ablation: a route to fabricate different carbon nanostructures Journal Article (2014). Liquid phase pulsed laser ablation: a route to fabricate different carbon nanostructures. Copyright and Moral Rights for the articles on this site are retained by the individual authors and/or other copyright owners. For more information on Open Research Online's data policy on reuse of materials please consult the policies page. Liquid phase pulsed laser ablation: a route to fabricate different carbon nanostructures, This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. Abstract Carbon nanostructures in various forms and sizes, and with different speciation properties have been prepared from graphite by Liquid Phase-Pulsed Laser Ablation (LP-PLA) using a high frequency Nd:YAG laser. High energy densities and pulse repetition frequencies of up to 10 kHz were used in this ablation process to produce carbon nanomaterials with unique chemical structures. Dynamic Light Scattering (DLS), micro-Raman and High-Resolution Transmission Electron Microscopy (HRTEM) were used to confirm the size distribution, morphology, chemical bonding, and crystallinity of these nanostructures. This article demonstrates how the fabrication process affects measured characteristics of the produced carbon nanomaterials. The obtained particle properties have potential use for various applications including biochemical speciation applications.
Mental Rotation of Viewpoint-Dependent/Independent Features in Children With Difficulty in Japanese Kanji Writing

This study examined viewpoint-dependent and viewpoint-independent visual cognitive processes in children of normal intelligence (mean age = 9.8 years) who have difficulty in Japanese Kanji writing. A mental rotation task in which the stimuli consisted of two ice-cream cones with three differently colored scoops of ice cream was used. Children were asked to judge whether the two stimuli, one upright and one rotated, were the same or different. Ice-cream cones were either identical, mirror images, or non-mirror images. We found that children with difficulty in Kanji writing showed no impairment for identical and non-mirror images and only exhibited lower accuracy scores when stimuli were mirror images. Since children could complete mental rotation in the identical condition and could find the unique features in the non-mirror images condition, their viewpoint-dependent and viewpoint-independent systems may be intact. However, they had deficits in mirror image perception. These may be one of the factors underlying reversal errors in these children.
Distribution of content words and phrases in text and language modelling

This paper addresses the problem of distribution of words and phrases in text, a problem of great general interest and of importance for many practical applications. The existing models for word distribution present observed sequences of words in text documents as an outcome of some stochastic processes; the corresponding distributions of numbers of word occurrences in the documents are modelled as mixtures of Poisson distributions whose parameter values are fitted to the data. We pursue a linguistically motivated approach to statistical language modelling and use observable text characteristics as model parameters. Multi-word technical terms, intrinsically content entities, are chosen for experimentation. Their occurrence and the occurrence dynamics are investigated using a 100-million word data collection consisting of a variety of about 13,000 technical documents. The derivation of models describing word distribution in text is based on a linguistic interpretation of the process of text formation, with the probabilities of word occurrence being functions of observable and linguistically meaningful text characteristics. The adequacy of the proposed models for the description of actually observed distributions of words and phrases in text is confirmed experimentally. The paper has two focuses: one is modelling of the distributions of content words and phrases among different documents; and another is word occurrence dynamics within documents and estimation of corresponding probabilities. Accordingly, among the application areas for the new modelling paradigm are information retrieval and speech recognition.
Facial Affect Recognition Using Regularized Discriminant Analysis-Based Algorithms

This paper presents a novel and effective method for facial expression recognition including happiness, disgust, fear, anger, sadness, surprise, and neutral state. The proposed method utilizes a regularized discriminant analysis-based boosting algorithm (RDAB) with effective Gabor features to recognize the facial expressions. Entropy criterion is applied to select the effective Gabor feature which is a subset of informative and nonredundant Gabor features. The proposed RDAB algorithm uses RDA as a learner in the boosting algorithm. The RDA combines strengths of linear discriminant analysis (LDA) and quadratic discriminant analysis (QDA). It solves the small sample size and ill-posed problems suffered from QDA and LDA through a regularization technique. Additionally, this study uses the particle swarm optimization (PSO) algorithm to estimate optimal parameters in RDA. Experiment results demonstrate that our approach can accurately and robustly recognize facial expressions.
Micelle nanoparticles for FRET-based ratiometric sensing of mercury ions in water, biological fluids and living cells

A fluorescence resonance energy transfer (FRET) based ratiometric sensing system for mercury ions is built in nano-sized core/corona micelles formed by a poly(ethylene oxide)-b-polystyrene diblock copolymer. For this system, a hydrophobic fluorescein derivative (FLS-C12), which serves as the energy transfer donor, is incorporated into the micelle core during the micelle formation; and a spirolactam-rhodamine derivative (RhB-CS) as a probe for mercury ions is located at the micelle core/corona interface. An efficient ring-opening reaction of RhB-CS induced by mercury ions generates the long-wavelength rhodamine B fluorophore which can act as the energy acceptor, affording the micelle nanoparticles the water-dispersible FRET-based ratiometric detection system for mercury ions, with a detection limit of 0.1 µM in water. The donor and the probe fluorophores, with their structure being appropriately modified, can strongly bind (non-covalently) to the specific sites of the micelles and form a stable ratiometric sensor in water and in some biological fluids. In addition, with the water-soluble and biocompatible poly(ethylene oxide) (PEO) as the corona of the micelles, the nano-sized sensing system can readily permeate through cell membrane and detect intracellular Hg2 + level changes.
Monoclonal antibody use in inflammatory bowel disease.

Christopher E. Hayes, MD, and Carolina S. Cerezo, MD  CrohN’s disease (Cd), ulCeraTive ColiTis (UC) and indeterminate colitis (IC) are chronic inflammatory bowel conditions usually collectively referred to as inflammatory bowel disease (IBD). They appear to be the result of the interaction of genetics, the environment and microbiome of the gastrointestinal tract. The common pathway to intestinal inflammation seems to be immune dysfunction due to lack of balance between pro-inflammatory and anti-inflammatory cytokines. Tumor necrosis factor alpha (TNF-α) has been identified as a key cytokine in the inflammatory cascade of IBD. TNF-α activates and sustains the inflammatory response and is responsible for activating other pro-inflammatory cytokine genes. It also promotes penetration of macrophages, lymphocytes, and neutrophils into inflamed tissues by stimulating the production of cell adhesion molecules by endothelial cells. Therapeutic targets have focused on immunologic mechanisms that trigger inflammation in IBD. The use of corticosteroids, antibiotics, and anti-inflammatory agents such as 5-aminosalicylates (5-ASA), has improved the management of IBD patients. However, many patients become steroid dependent or resistant and refractory to other agents.
Three New Multiflorane-Type Triterpenes from Pumpkin (Cucurbita maxima) Seeds

Three new multiflorane-type triterpenes; 7α-methoxymultiflor-8-ene-3α,29-diol 3-acetate-29-benzoate (1), 7-oxomultiflor-8-ene-3α,29-diol 3-acetate-29-benzoate (2), and multiflora-7,9(11)-diene-3α,29-diol 3-p-hydroxybenzoate-29-benzoate (3), were isolated from seeds of Cucurbita maxima, along with three known compounds. Compound 3 and multiflora-7,9(11)-diene-3α-29-diol 3-benzoate (5) exhibited potent inhibitory effects on melanogenesis, with low cytotoxicities, and 2 exhibited single-digit micromolar cytotoxicity against HL-60 and P388 cells.
Deletions, duplications and novel restriction fragment length polymorphism in Duchenne and Becker muscular dystrophies

To determine the mutations of Southern Chinese with Duchenne and Becker muscular dystrophies (DMD, BMD), we analysed 28 DMD and BMD patients in 24 unrelated families for intragenic deletions and duplications by using cDNA probes covering the entire 14 kb of the dystro‐phin gene. Deletions were detected in nine unrelated patients (seven patients by probe 8 and two by probe 2b‐3). Gene duplications were detected by probe l‐2a in two patients with the duplication bands confirmed in both Hind III and Bgl II digests and by densitometry. A third patient was found to have a junction fragment with Bgl II and a duplication band with Hind III by probe 5b‐7. Therefore 50% of the 24 unrelated families were found to have either deletions or duplications. A previously undescri‐bed restriction fragment length polymorphism (RFLP) was found in one family with probe 5b‐7 in Bgl II digests which was found to segregate with the disease phenotype. This new RFLP was not detected in over 70 unrelated X chromosomes we have examined so far, and appeared to be “private” for this family. The presence of this new restriction site may or may not be the mutation responsible for the disease phenotype.
Risk and Return Reaction of the Stock Market to News

This paper analyzes the reaction of stock returns to news about the state of the economy. We develop a general equilibrium asset pricing model where the investor learns about the growth rate of the economy through two sources of information, dividend realizations and regularly scheduled announcements about the state of the economy. We distinguish between dividend news and unexpected part of announcements and characterize the reaction of both level and conditional volatility of unexpected returns. The returns react quite differently to these two different sources of information whereas the reaction of conditional volatility is similar. Under certain assumptions, the reaction to dividend news is positive whereas the reaction to an external signal is negative and the conditional volatility reacts positively to both news. Our model is able to account for several empirical facts, such as time-varying expected returns and conditional volatility, timeand state-dependent reaction to news, the greater impact of news variables that are released earlier in a given month as well as the calm-before-the-storm effect. ∗I am grateful to my advisor Allan Timmermann for his help and guidance. I thank Massimo Guidolin and Bruce Lehmann for helpful discussions and comments on earlier versions of this paper. Jim Hamilton, Jun Liu, Rossen Valkanov, Jim Bullard, Riccardo DiCecio, Michael Dueker, Bill Gavin, Gonzalo Rangel, Jon Smith and Jason Murray gave some helpful advice. Part of this research was done when I was a dissertation research intern at the Federal Reserve Bank of St. Louis. I thank them for their hospitality and the financial support. Author Correspondence: tolga.cenesizoglu@hec.ca. Please check http://neumann.hec.ca/pages/tolga.cenesizoglu/ for updates.
Global expression analysis of the fibroblast transcriptional response to TGFbeta.

OBJECTIVES Transforming Growth Factor-beta (TGFbeta) is the predominant cytokine in all forms of fibrotic reactions. As well as being secreted by immune modulators of fibrosis such as macrophages, it is involved in an autocrine feedback loop of fibroblast stimulation whose regulation is still poorly understood. We wished to gain some insight into the mechanisms of the fibroblast response to TGFbeta. METHODS We undertook an exhaustive transcript profiling experiment using a widely validated restriction enzyme based method for identifying differentially expressed genes (GeneCalling). Transcriptional responses throughout a 24-hour time course were examined at multiple time points and classified. RESULTS By 24 hours of TGF treatment over 1000 bands, representing a large number of transcripts, were down- or upregulated greater than 2-fold. All of the known genes responsive to TGFbeta, such as collagen and connective tissue growth factor, were upregulated. CONCLUSIONS This encyclopedic method revealed many unknown transcriptional responses to TGFbeta including the upregulation of a variety of less expected cytoskeletal and matrix components, as well as interactions between the TGFbeta and tumor necrosis factor (TNF) pathways and alterations in cell death-related pathways. These may in part explain the idiosyncratic responses of mesenchymal cells to TGFbeta.