Miracle-dz/UniFAR-FTUs huggingface dataset:
RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

In one consanguineous family with retinitis pigmentosa (RP), a condition characterized by progressive visual loss due to retinal degeneration, homozygosity mapping, and candidate gene sequencing suggested a novel locus. Exome sequencing identified a homozygous frameshifting mutation, c.601delG, p.Lys203Argfs*28, in RP1L1 encoding RP 1‐like1, a photoreceptor‐specific protein. A screen of a further 285 unrelated individuals with autosomal recessive RP identified an additional proband, homozygous for a missense variant, c.1637G>C, p.Ser546Thr, in RP1L1. A distinct retinal disorder, occult macular dystrophy (OCMD) solely affects the central retinal cone photoreceptors and has previously been reported to be associated with variants in the same gene. The association between mutations in RP1L1 and the disorder OCMD was explored by screening a cohort of 28 unrelated individuals with the condition; 10 were found to harbor rare (minor allele frequency ≤0.5% in the 1,000 genomes dataset) heterozygous RP1L1 missense variants. Analysis of family members revealed many unaffected relatives harboring the same variant. Linkage analysis excluded the possibility of a recessive mode of inheritance, and sequencing of RP1, a photoreceptor protein that interacts with RP1L1, excluded a digenic mechanism involving this gene. These findings imply an important and diverse role for RP1L1 in human retinal physiology and disease.
An Investigation of Homes with High Concentrations of PCDDs, PCDFs, and/or Dioxin-Like PCBs in House Dust

As part of the University of Michigan Dioxin Exposure Study, the 29 congeners of polychlorinated dibenzo-p-dioxins, polychlorinated dibenzofurans, and dioxin-like polychlorinated biphenyls that have World Health Organization consensus toxic equivalency factors were measured in house dust from 764 homes using a population-based sampling design over selected regions in five Michigan counties. Twenty homes had a total toxic equivalency in house dust that was more than 2.5 standard deviations above the mean (i.e., defined to be outliers). This follow-up investigation describes the outlier house dust measurements and corresponding soil measurements and explores possible sources of these toxins in house dust. The congener distributions in the house dust outliers varied and were dominated (i.e., >50% of the total toxic equivalency) by either polychlorinated dibenzo-p-dioxins (n = 9), polychlorinated dibenzofurans (n = 1), or dioxin-like polychlorinated biphenyls (n = 9). Likely sources of contamination of house dust were identified in only three cases. In two cases, dust contamination appeared to be related to contaminated soil adjacent to the home; in one case, contamination was related to a source within the home (a carpet pad). In most cases, the source(s) of contamination of house dust could not be identified but appeared likely to be related to uncharacterized sources within the homes. [Supplementary materials are available for this article. Go to the publisher's online edition of the Journal of Occupational and Environmental Hygiene for the following free supplemental resource: a PDF file containing a summary of baseline and dust outlier interview questions and tables containing PCB, PCDD, and PCDF concentrations in various samples of house dust and soil. ]
Burkholderia thailandensis oacA Mutants Facilitate the Expression of Burkholderia mallei-Like O Polysaccharides

ABSTRACT Previous studies have shown that the O polysaccharides (OPS) expressed by Burkholderia mallei are similar to those produced by Burkholderia thailandensis except that they lack the 4-O-acetyl modifications on their 6-deoxy-α-l-talopyranosyl residues. In the present study, we describe the identification and characterization of an open reading frame, designated oacA, expressed by B. thailandensis that accounts for this phenomenon. Utilizing the B. thailandensis and B. mallei lipopolysaccharide (LPS)-specific monoclonal antibodies Pp-PS-W and 3D11, Western immunoblot analyses demonstrated that the LPS antigens expressed by the oacA mutant, B. thailandensis ZT0715, were antigenically similar to those produced by B. mallei ATCC 23344. In addition, immunoblot analyses demonstrated that when B. mallei ATCC 23344 was complemented in trans with oacA, it synthesized B. thailandensis-like LPS antigens. To elucidate the structure of the OPS moieties expressed by ZT0715, purified samples were analyzed via nuclear magnetic resonance spectroscopy. As predicted, these studies demonstrated that the loss of OacA activity influenced the O acetylation phenotype of the OPS moieties. Unexpectedly, however, the results indicated that the O methylation status of the OPS antigens was also affected by the loss of OacA activity. Nonetheless, it was revealed that the LPS moieties expressed by the oacA mutant reacted strongly with the B. mallei LPS-specific protective monoclonal antibody 9C1-2. Based on these findings, it appears that OacA is required for the 4-O acetylation and 2-O methylation of B. thailandensis OPS antigens and that ZT0715 may provide a safe and cost-effective source of B. mallei-like OPS to facilitate the synthesis of glanders subunit vaccine candidates.
MR-compatible assistance system for biopsy in a high-field-strength system: initial results in patients with suspicious prostate lesions.

PURPOSE To examine the feasibility and safety of magnetic resonance (MR)-guided biopsy by using a transgluteal approach in patients with suspicious prostate lesions by using an MR-compatible robotic system and a 1.5-T MR system. MATERIALS AND METHODS The study was approved by the institutional review board of University Frankfurt, and informed consent was obtained from each patient. A total of 20 patients (age range, 57.8-71.9 years; mean age, 65.1 years) underwent biopsy in a closed-bore high-field-strength MR system. Biopsy was performed with an MR-compatible pneumatically driven robotic system. T1-weighted gradient-echo fast low-angle shot and T2-weighted true fast imaging with steady-state precession sequences were used to plan and guide the intervention with a transgluteal access on the external planning computer of the assistance system. The system calculated the trajectory and then moved the guiding arm to the insertion point. The cannula was advanced manually, and biopsies were performed with the coaxial technique by using a 15-gauge pencil tip needle. Intervention time, complications, and biopsy findings were documented. RESULTS The MR-compatible robotic system did not interfere with image quality, nor did MR imaging cause dysfunction of the robot. In one patient, the interventionist caused a fail-safe system shutdown. This was due to inadvertent displacement of the guiding arm during cannula insertion. This problem was solved by increasing the displacement threshold. Accurate coaxial cannula biopsy could be performed in all subsequent patients. Sufficient histopathologic assessment was performed in 19 patients. Insufficient material was retrieved in the patient who experienced fail-safe system shutdown. The median intervention time was 39 minutes (23-65 minutes). No procedure-related complications were observed. CONCLUSION Preliminary results indicate that MR-guided robot-assisted biopsy is feasible and can be performed safely with highly accurate cannula placement.
Process-Structure-Property Relationship In Magnesium-Based Biodegradable Alloy For Biomedical Applications

We elucidate here the impact of multiaxial forging of Mg-2Zn-2Gd alloy on grain refinement to sub-micron regime and relate the structure to mechanical properties. As-cast and annealed samples were multiaxial forged (MAF) for a total number of two passes with a true strain of ~2/pass. Using only two passes, multiaxial forging successfully reduced the average grain size to less than a ~1 μm. When the annealed samples were forged, the yield strength increased to ~227 MPa as compared to the as-cast alloy with yield strength of ~54 MPa. The improvement in mechanical properties is attributed to the homogeneous structure obtained on annealing, which led to high degree of grain fragmentation. Annealing also led to fine distribution of precipitates, which significantly improved strength and hardness. The Rockwell hardness (HRE) was ~88 for annealed and forged alloy in relation to ~55 for the as-cast alloy.
Multicenter Study of In Vitro Susceptibility of theBacteroides fragilis Group, 1995 to 1996, with Comparison of Resistance Trends from 1990 to 1996

ABSTRACT Antimicrobial resistance, including plasmid-mediated resistance, among the species of the Bacteroides fragilis group is well documented. An analysis of the in vitro susceptibility of B. fragilis group species referred between 1995 and 1996 as well as during a 7-year (1990 to 1996), prospective, multicenter survey of over 4,000 clinical isolates of B. fragilis group species was undertaken to review trends in the percent resistance to and geometric mean MICs of the antibiotics tested. There was a trend toward a decrease in the geometric mean MICs of most β-lactam antibiotics, while the percent resistance to most agents was less affected. Within the species B. fragilis, the geometric mean MICs showed significant (P < 0.05) decreases for piperacillin-tazobactam, ticarcillin-clavulanate, piperacillin, ticarcillin, ceftizoxime, cefotetan, and cefmetazole; a significant increase was observed for clindamycin and cefoxitin. For the non-B. fragilis species, a significant decrease in the geometric mean MICs was observed for meropenem, ampicillin-sulbactam, ticarcillin-clavulanate, piperacillin, ticarcillin, ceftizoxime, and cefmetazole; a significant increase was observed for cefoxitin. Significant increases in percent resistance were observed within theB. fragilis strains for ticarcillin and ceftizoxime and within the non-B. fragilis isolates for cefotetan. Significant increases in percent resistance among all B. fragilis group species were observed for clindamycin, while imipenem showed no significant change in resistance trends. The trend analysis for trovafloxacin was limited to 3 years, since the quinolone was tested only in 1994, 1995, and 1996. During the 7 years analyzed, there was no resistance to metronidazole or chloramphenicol observed. The data demonstrate that resistance among the B. fragilisgroup species has decreased in the past several years, the major exception being clindamycin. The majority of the resistance decrease has been for the β-lactams in B. fragilis, compared to other species. The reasons for these changes are not readily apparent.
Attention in Stereo Vision: Implications for Computational Models of Attention

The stereo correspondence problem is a topic that has been the subject of considerable research effort. What has not yet been considered is an analogue of stereo correspondence in the domain of attention. In this chapter we bring this problem to light revealing important implications for computational models of attention and in particular how these implications constrain the problem of computational modeling of attention. A model is described which addresses attention in the stereo domain, and it is revealed that a variety of behaviors observed in binocular rivalry experiments are consistent with the model’s behavior. Finally, we consider how constraints imposed by stereo vision may suggest analogous constraints in other nonstereo feature domains with significant consequence to computational models of attention.
Large deviations for intermittent maps

In this paper we study large deviation results for the Manneville–Pomeau map and related transformations to indifferent fixed points. In particular, we consider conditions under which the associated error term is polynomial or even exponential. For typical observables, polynomial estimates are optimal. However, under suitable conditions, the exponential error term arises from the compactness of the space of measures, despite the indifference of the fixed point.
Exact Error Probabilities Analysis of Arbitrary 2-D Modulation-OFDM Systems with I / Q Imbalances in Frequency-Flat Rayleigh Fading Channel

In OFDM systems, in-phase and quadrature (I/Q) imbalances generated in the analog front-end introduce int erchannel interference and, consequently, error performanc e degradation. This paper provides an exact expression involving t he twodimensional (2-D) Gaussian Q-function for the error probability of an arbitrary 2-D modulated OFDM signal with I/Q imbalance s in frequency-flat Rayleigh fading channel.
Sintering of Lead-Free Piezoelectric Sodium Potassium Niobate Ceramics

The potassium sodium niobate, K0.5Na0. 5NbO3, solid solution (KNN) is considered as one of the most promising, environment-friendly, lead-free candidates to replace highly efficient, lead-based piezoelectrics. Since the first reports of KNN, it has been recognized that obtaining phase-pure materials with a high density and a uniform, fine-grained microstructure is a major challenge. For this reason the present paper reviews the different methods for consolidating KNN ceramics. The difficulties involved in the solid-state synthesis of KNN powder, i.e., obtaining phase purity, the stoichiometry of the perovskite phase, and the chemical homogeneity, are discussed. The solid-state sintering of stoichiometric KNN is characterized by poor densification and an extremely narrow sintering-temperature range, which is close to the solidus temperature. A study of the initial sintering stage revealed that coarsening of the microstructure without densification contributes to a reduction of the driving force for sintering. The influences of the (K + Na)/Nb molar ratio, the presence of a liquid phase, chemical modifications (doping, complex solid solutions) and different atmospheres (i.e., defect chemistry) on the sintering are discussed. Special sintering techniques, such as pressure-assisted sintering and spark-plasma sintering, can be effective methods for enhancing the density of KNN ceramics. The sintering behavior of KNN is compared to that of a representative piezoelectric lead zirconate titanate (PZT).
Aneurysm of the internal iliac artery.

Aortoiliac aneurysmal dilatation may extend to involve the internal iliac artery in certain cases of generalized atherosclerosis. The presence of a symptomatic, isolated aneurysm of the internal iliac artery (hypogastric artery) represents an unusual finding. Such a lesion may manifest itself clinically by sudden rupture, pain, or localized pelvic symptoms involving the adjacent segments of the gastrointestinal or genitourinary systems. The 3 cases presented illustrate these findings, and the proper surgical management is suggested. A similar case presenting with urinary tract obstruction secondary to an aneurysm of the hypogastric artery was reported in 1947 by Goodwin and Shumacker.1 Report of Cases Case 1. —The patient was a 76-year-old white man who was first seen in the emergency division of the Strong Memorial Hospital, Rochester, on March 9, 1960. There was a 6-month history of lower abdominal pain which had increased in severity over the past 3 weeks, and which
A Cross-Country Analysis of the Risk Factors for Depression at the Micro and Macro Level

Past research has provided evidence of the role of some personal characteristics as risk factors for depression. However, few studies have examined jointly their specific impact and whether country characteristics change the probability of being depressed. In general, this is due to the use of single-country databases. The aim of this paper is to extend previous findings by employing a much larger dataset and including the country effects mentioned above. The paper estimates probit models with country effects and explores linkages between specific environmental factors and depression using data from the 2007 Gallup Public Opinion Poll. Findings indicate that depression is positively related to being a woman, adulthood, divorce, widowhood, unemployment and low income. Moreover, there is evidence of the significant positive association between inequality and depression, especially for those living in urban areas. Finally, some populations characteristics facilitate depression (age distribution and religious affiliation).
Toward a prophylaxis against fetal and neonatal alloimmune thrombocytopenia: induction of antibody‐mediated immune suppression and prevention of severe clinical complications in a murine model

BACKGROUND: Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a severe bleeding disorder caused by maternal antibody–mediated destruction of fetal or neonatal platelets (PLTs). Results from our recent large screening study suggest that the pathophysiology of FNAIT is more similar to hemolytic disease of the fetus and newborn (HDFN) than previously thought. Immunization against HPA‐1a might therefore be preventable by a prophylactic regimen of inducing antibody‐mediated immune suppression (AMIS), which has been documented to be a useful prophylaxis against HDFN. This preclinical proof‐of‐concept study investigated whether passive administration of anti‐β3 integrin could induce AMIS and thereby prevent clinical complications of FNAIT.
Maintaining distributed logic programs incrementally

Distributed logic programming languages, that allow both facts and programs to be distributed among different nodes in a network, have been recently proposed and used to declaratively program a wide-range of distributed systems, such as network protocols and multi-agent systems. However, the distributed nature of the underlying systems poses serious challenges to developing efficient and correct algorithms for evaluating these programs. This paper proposes an efficient asynchronous algorithm to compute incrementally the changes to the states in response to insertions and deletions of base facts. Our algorithm is formally proven to be correct in the presence of message reordering in the system. To our knowledge, this is the first formal proof of correctness for such an algorithm.
CXCR4 is required for the quiescence of primitive hematopoietic cells

The quiescence of hematopoietic stem cells (HSCs) is critical for preserving a lifelong steady pool of HSCs to sustain the highly regenerative hematopoietic system. It is thought that specialized niches in which HSCs reside control the balance between HSC quiescence and self-renewal, yet little is known about the extrinsic signals provided by the niche and how these niche signals regulate such a balance. We report that CXCL12 produced by bone marrow (BM) stromal cells is not only the major chemoattractant for HSCs but also a regulatory factor that controls the quiescence of primitive hematopoietic cells. Addition of CXCL12 into the culture inhibits entry of primitive hematopoietic cells into the cell cycle, and inactivation of its receptor CXCR4 in HSCs causes excessive HSC proliferation. Notably, the hyperproliferative Cxcr4 −/− HSCs are able to maintain a stable stem cell compartment and sustain hematopoiesis. Thus, we propose that CXCR4/CXCL12 signaling is essential to confine HSCs in the proper niche and controls their proliferation.
Promoting Neurological Recovery in the Post-Acute Stroke Phase: Benefits and Challenges

Background: Profound cellular and biochemical remodeling processes occur in the brain following an ischemic stroke, raising the possibility that we may be able to promote neurological recovery by harnessing the brain's endogenous recovery processes with pharmacological or cell-based therapies. There is a compelling body of evidence that cerebral plasticity and neurological recovery can be stimulated in the post-acute ischemic brain in this manner. Summary: This overview of neurorestorative therapies highlights the main challenges in their development, and summarizes the implications of these findings to stroke patients. Key Message: Neurorestorative therapies are a highly promising avenue of treatment for the restitution of neuronal networks damaged by stroke. Clinical Implications: The key supporting data have so far been obtained using in vivo models in animals, underscoring the need to validate these findings in humans. For human studies, several potentially confounding variables should be kept in mind, including age, and the presence of risk factors and comorbidities (such as hyperlipidemia and diabetes). Stroke patients vary considerably in age and genetic background, as well as in the etiology, localization and size of brain infarcts. The choice of patient population is a critical factor in the success of clinical trials, as patient heterogeneity could mask any potential therapeutic benefits.
Comparison of Ultrasound-Guided Biopsy Technique for Thyroid Nodules with Respect to Adequacy of Cytological Material

Background: Ultrasound-guided fine-needle aspiration cytology (FNAC) sampling of the thyroid represents a standard diagnostic procedure in the evaluation of thyroid nodules. The specimen can be acquired using either of two different techniques. In the first, the short axis is used with observation only of the tip of the needle whilst in the nodule. In the second technique, the long axis is used with the observation of the entire length of the needle. The decision to sample utilizing either technique was done randomly. This study is a retrospective review performed to compare these two techniques with regard to specimen adequacy. Methods: Ultrasound-guided FNACs were performed in 80 thyroid nodules between May 2008 and February 2009. One physician acquired the cytology specimens using one of these two methods after localization. Data on the type of technique and its diagnostic accuracy were collected. Results: Forty-nine of 80 thyroid nodules were sampled using the long-axis technique. The overall and deep-lesion diagnostic adequacies of specimens were significantly higher using this technique (93.9 and 95.1%, respectively, p < 0.01) than the short-axis technique. When comparing the long and short axes for superficial lesions, there was no significant difference in adequacy of the samples (p = 0.92). Conclusions: This is the first study to compare long- and short-axis techniques with regard to specimen adequacy for thyroid nodules. The long-axis technique decreased the rate of inadequate material and provided more accurate cytological evaluation for deeper lesions.
An improved fuzzy mutual information feature selection for classification systems

Classification systems are sensitive to input data, especially for datasets with a IoT of undesirable features. Selecting relevant features and avoiding irrelevant or redundant features builds effective systems. Fuzzy Mutual Information measures the relevance and redundancy of features. Although it can deal directly with continuous data without discretization, it still requires more computation and storage space. In this paper, we propose an improved fuzzy mutual information to solve this problem. Furthermore, we integrate it with normalized max-relevance and min-redundancy (mRMR) approach. It does not only select the relevant features but also avoids the redundancies with respect to the domination between them. Our experiment was evaluated according to storage, stability, classification accuracy, and the number of selected features. Based on 12 benchmark datasets, experimental results confirm that our proposed method achieved better results.
Generating Tests for Control Portion of SDL Specifications

ABSTRACT The signal SAVE construct is one of the features distinguishing SDL from convent specification and programming languages. On the other hand, this feature increase testing SDL-specified software. We present a testing approach consisting of the foll SDL specifications are first abstracted into finite state machines with save constructs machines are transformed to equivalent finite state machines without save construc are selected from the resulting finite state machines. In particular, we give a fault m selection. We come up with an equivalent transformation method which works for constructs for which equivalent FSMs exist. We also investigate the detection of fa queue.