Miracle-dz/UniFAR-FTUs huggingface dataset:
Identification of mutations in TCOF1: Use of molecular analysis in the pre‐ and postnatal diagnosis of Treacher Collins syndrome

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of facial development, which results from mutations in TCOF1. TCS comprises conductive hearing loss, hypoplasia of the mandible and maxilla, downward sloping palpebral fissures and cleft palate. Although, there is usually a reasonable degree of bilateral symmetry, a high degree of both inter‐ and intrafamilial variability is characteristic of TCS. The wide variation in the clinical presentation of different patients, together with the fact that more than 60% of cases arise de novo, can complicate the diagnosis of mild cases and genetic counselling. In the current study, we describe how molecular techniques have been used to facilitate pre‐ and postnatal disease diagnoses in 13 TCS families. © 2004 Wiley‐Liss, Inc.
Posttraumatic growth within the first three months after accidental injury in China: The role of self-disclosure, cognitive processing, and psychosocial resources

The primary goals of this study, were to identify the posttraumatic growth (PTG) level of accidentally injured Chinese patients shortly after an accident occurred and to determine whether cognitive processing, self-disclosure, and psychosocial resources predicted PTG. A total of 232 patients were recruited from two public hospitals in Shanghai within the first three months of an accidental injury. Patients completed self-report questionnaires to assess severity of injury, cognitive processing, self-disclosure, psychosocial resources, and PTG. Patients reported a mid-low level of PTG (M = 50.38, SD = 18.12) in the short length of time post-injury. Hierarchical regression analysis indicated that subjective accident severity, deliberate rumination, perceived social support, and attitude towards disclosure were strong predictors of PTG. A moderating role of self-disclosure between intrusive rumination and PTG was identified. These findings support an interaction effect of rumination and self-disclosure on PTG and have implications for early intervention of accidentally injured patients.
On decompositions of multivariate functions

We present formulas that allow us to decompose a function f of d variables into a sum of 2 d terms fu indexed by subsets u of f1;:::;dg, where each term fu depends only on the variables with indices in u. The decomposition depends on the choice of d commuting projections fPjg d=1 , where Pj(f) does not depend on the variable xj. We present an explicit formula for fu, which is new even for the anova and anchored decompositions; both are special cases of the general decomposition. We show that the decomposition is minimal in the following sense: if f is expressible as a sum in which there is no term that depends on all of the variables indexed by the subset z then, for every choice of fPjg d=1, the terms fu = 0 for all subsets u containing z. Furthermore, in a reproducing kernel Hilbert space setting, we give su-cient conditions for the terms fu to be mutually orthogonal.
Reorganization of polymerized actin: a possible trigger for induction of procollagenase in fibroblasts cultured in and on collagen gels

Changes in cell shape are postulated to modulate gene expression during differentiation of a number of cell types, including rabbit synovial fibroblasts, which are inducible for expression of the zymogen form of the metalloendopeptidase, collagenase. In the work presented here, fibroblasts cultured on and within hydrated collagen gels were allowed to contract by release of the gels from the sides of the culture dish. Within 24 h of cell release, synthesis and secretion of procollagenase was initiated in the absence of any chemical manipulation. Fibroblasts grown in and on collagen also responded to 12-O-tetradecanoylphorbol-13- acetate and cytochalasin B with morphologic change and induced procollagenase. However, colchicine, which altered morphology to varying degrees in cells on plastic, on collagen, and within collagen gels, did not induce procollagenase expression. In all cases, the enzyme was induced only after reorganization of polymerized actin, rather than after a change in cellular morphology per se. As a first approach to identifying other aspects of the stimulated phenotype that could affect collagen turnover, the expression of collagen and endogenous metalloproteinase inhibitors in relation to procollagenase secretion was investigated. Collagen secretion by fibroblasts decreased when procollagenase secretion was induced by the pharmacologic agents, but not when cells were stimulated by contraction on or within collagen gels. The expression of two endogenous inhibitors was not coordinately regulated with induction of procollagenase. Therefore, the extracellular matrix and the cellular actin cytoskeleton may transduce signals that modulate the tissue remodeling phenotype of fibroblasts.
Electronic and Structural Properties of ABO3: Role of the B-O Coulomb Repulsions for Ferroelectricity

We have investigated the role of the Ti–O Coulomb repulsions in the appearance of the ferroelectric state in BaTiO3 as well as the role of the Zn–O Coulomb repulsions in BiZn0.5Ti0. 5O3, using a first-principles calculation with optimized structures. In tetragonal BaTiO3, it is found that the Coulomb repulsions between Ti 3s and 3p states and O 2s and 2p states have an important role for the appearance of Ti ion displacement. In BiZn0.5Ti0. 5O3, on the other hand, the stronger Zn–O Coulomb repulsions, which are due to the 3s, 3p, and 3d (d10) states of the Zn ion, have more important role than the Ti–O Coulomb repulsions for the appearance of the tetragonal structure. Our suggestion is consistent with the other ferroelectric perovskite oxides ABO3 in the appearance of tetragonal structures as well as rhombohedral structures.
Noninvasive Study of the Human Heart using Independent Component Analysis

We have developed a new approach to studying human heart activity using independent component analysis. The electrocardiogram (ECG) is an important tool in diagnosis of heart disease. However, the normal 12-lead ECG can only record limited aspects of heart's electrical signals and mostly their interpretation relies on trained and experienced medical doctors. We have performed experiments in which heart signals were recorded in high spatial resolution. Independent component analysis was applied to the recorded signals to separate distinct temporal components of the recorded signals. The separated components were further analyzed by back-projecting their activities to the surface montage to examine each component's property. Experimental results show this to be a promising approach that can be extended to build more detailed heart activity simulations
LSL: a Link and Selector Language

This paper presents the main ideas behind the language LSL. The purpose of LSL is to provide a compromise between different data base approaches and attitudes. The hierarchical, network and relational models of data can coexist within the LSL environment. LSL is being implemented on a PDP-11/45 running the UNIX operating system. It will be interfaced both to a host language and a conversational graphical facility.
Relation of Surgeon and Hospital Volume to Processes and Outcomes of Colorectal Cancer Surgery

Background:Greater hospital volume has been associated with lower mortality after colorectal cancer surgery. The contribution of surgeon volume to processes and outcomes of care is less well understood. We assessed the relation of surgeon and hospital volume to postoperative and overall mortality, colostomy rates, and use of adjuvant radiation therapy. Methods:From the California Cancer Registry, we studied 28,644 patients who underwent surgical resection of stage I to III colorectal cancer during 1996 to 1999 and were followed up to 6 years after surgery to assess 30-day postoperative mortality, overall long-term mortality, permanent colostomy, and use of adjuvant radiation therapy. Results:Across decreasing quartiles of hospital and surgeon volume, 30-day postoperative mortality ranged from 2.7% to 4.2% (P<0.001). Adjusting for age, stage, comorbidity, and median income among patients with colorectal cancer who survived at least 30 days, patients in the lowest quartile of surgeon volume had a higher adjusted overall mortality rate than those in the highest quartile (hazard ratio, 1.16; 95% confidence interval, 1.09–1.24), as did patients in the lowest quartile of hospital volume relative to those treated in the highest quartile (hazard ratio, 1.11; 95% confidence interval, 1.05–1.19). For rectal cancer, adjusted colostomy rates were significantly higher for low-volume surgeons, and the use of adjuvant radiation therapy was significantly lower for low-volume hospitals. Conclusions:Greater surgeon and hospital volumes were associated with improved outcomes for patients undergoing surgery for colorectal cancer. Further study of processes that led to these differences may improve the quality of colorectal cancer care.
String similarity measures and joins with synonyms

A string similarity measure quantifies the similarity between two text strings for approximate string matching or comparison. For example, the strings "Sam" and "Samuel" can be considered similar. Most existing work that computes the similarity of two strings only considers syntactic similarities, e.g., number of common words or q-grams. While these are indeed indicators of similarity, there are many important cases where syntactically different strings can represent the same real-world object. For example, "Bill" is a short form of "William". Given a collection of predefined synonyms, the purpose of the paper is to explore such existing knowledge to evaluate string similarity measures more effectively and efficiently, thereby boosting the quality of string matching. In particular, we first present an expansion-based framework to measure string similarities efficiently while considering synonyms. Because using synonyms in similarity measures is, while expressive, computationally expensive (NP-hard), we propose an efficient algorithm, called selective-expansion, which guarantees the optimality in many real scenarios. We then study a novel indexing structure called SI-tree, which combines both signature and length filtering strategies, for efficient string similarity joins with synonyms. We develop an estimator to approximate the size of candidates to enable an online selection of signature filters to further improve the efficiency. This estimator provides strong low-error, high-confidence guarantees while requiring only logarithmic space and time costs, thus making our method attractive both in theory and in practice. Finally, the results from an empirical study of the algorithms verify the effectiveness and efficiency of our approach.
Rate-compatible low-density parity-check codes for digital subscriber lines

Rate-compatible low-density parity-check (LDPC) codes obtained from the class of array LDPC codes are presented. The design methodology described herein retains practical advantages of array LDPC codes such as excellent performance and efficient encodability across all the codes in a rate-compatible family. Different codes in the rate-compatible family can be specified by a small number of parameters and constructed algebraically with a small amount of preprocessing. The rate-compatible codes can be decoded using a generic decoder architecture, leading to efficient implementations. These properties make the codes attractive for use in DSL systems that need to support a large number of code parameters to cope with channel variability.
Event Coreference Resolution by Iteratively Unfolding Inter-dependencies among Events

We introduce a novel iterative approach for event coreference resolution that gradually builds event clusters by exploiting inter-dependencies among event mentions within the same chain as well as across event chains. Among event mentions in the same chain, we distinguish within- and cross-document event coreference links by using two distinct pairwise classifiers, trained separately to capture differences in feature distributions of within- and cross-document event clusters. Our event coreference approach alternates between WD and CD clustering and combines arguments from both event clusters after every merge, continuing till no more merge can be made. And then it performs further merging between event chains that are both closely related to a set of other chains of events. Experiments on the ECB+ corpus show that our model outperforms state-of-the-art methods in joint task of WD and CD event coreference resolution.
Promotional effects of CO2 laser and scalpel incision on 4‐NQO‐induced premalignant lesions of mouse tongue

CO2 laser and scalpel incision have been demonstrated to have promotional effects on oral neoplastic lesions. However, a precise understanding has not been achieved as to which modality has a more significant effect on cancer promotion. The purpose of this study was to determine the histological and biological changes after CO2 laser surgery and scalpel incision in oral premalignant lesions.
Effect of parenterally l-arginine supplementation on the respiratory distress syndrome in preterm newborns

Abstract l-Arginine (l-Arg) is the precursor of nitric oxide which plays an important role on pulmonary circulation and pulmonary vascular tone. Earlier studies suggested that l-Arg levels in preterm newborns with respiratory distress syndrome (RDS) were low due to its consumption and l-Arg supplementation may reduce the severity of RDS. Our aim was detect the effect of the parenterally l-Arg supplementation on RDS severity. The subjects were chosen between preterm newborns (gestational age <34 weeks) (n = 30). Twenty of the subjects were diagnosed with permaturity and RDS, and 10 of the subjects were healthy preterm newborns. Ten of the subjects was taken l-Arg (1.5 mmol/kg/d) in addition to routine RDS treatment and assumed as “Group 1”. In this group, daily l-Arg supplementation was started end of the first day, and continued at end of fifth day. The others of the subjects diagnosed with RDS was take routine RDS treatment and assumed as “Group 2”. Healthy preterm newbors assumed as “Group 3”. Blood collections for l-Arg levels via tandem mass spectrometry were made in first day and repeated on the seventh days. Oxygenation index was used to determine severity of RDS. l-Arg consentrations in Group 1 were 8.7 ± 4.1 μM/L and 11.9 ± 5.0 μM/L in first and seventh day, respectively. l-Arg consentrations were 12.6±4.5 μM/Land 10.9 ± 5.4 μM/L in Group 2 and 8.6 ± 5.1 μM/L and 9.4 ± 4.1 μM/L in Group 3. There is no correlation between l-Arg concentrations and OI also duration of the mechanical ventilation of the subjects in patient groups (Group 1 and 2).
Association between CC 16 Polymorphism and Bronchial Asthma

Background: Asthma is one of the most common chronic pediatric diseases, and is responsible for a significant proportion of school day losses. Asthma is influenced by genetic and environmental factors. The inheritance pattern of asthma demonstrates that it is a complex genetic disorder. Clara cell secretory protein (CC16) is an ideal candidate for involvement in an inherited predisposition to asthma owing to its chromosomal location, nature and function. Objective: to screen exons of CC16 gene on chromosome 11 for detection of sequence variation in families to determine whether these allelic polymorphism are associated with clinical asthma or not and to detect the relation between type of genetic polymorphism and asthma severity. Patients and Methods: This study included 20 stable asthmatic children with 21 of their atopic family members, also 11 healthy non atopic subjects were included as control group, all cases were subjected to genetic study methods including pedigree construction, PCR and detection of allelic polymorphism. Results: Significant correlation (90%) between homozygous CC16, 38 (AA) (75%) and 38 (AG) (15%) allelic polymorphism and increased prevalence of asthma was detected in families but there was no correlation between CC16 allelic polymorphism and asthma severity. Conclusion: There was a correlation between CC16 allelic polymorphism and increased prevalence of asthma and this gene is present also in normal subjects who are not triggered by environmental factors. [Nisreen M.El Abiad, Hisham Waheed, William M. Morcos, Samar M. Salem, and Hala Ataa, Olfat G. Shaker. Association between CC16 Polymorphism and Bronchial Asthma. Life Science Journal 2012; 9(1):265-270]. (ISSN: 1097-8135). http://www.lifesciencesite. com 36
Differential Processing of Implicature in Individuals With Left and Right Brain Damage

To evaluate the processing ability of implicature, especially indirect request and indirect refusal, the Four Scenes Test was administered to 20 left hemisphere damaged (LHD) subjects, 20 right hemisphere damaged (RHD) subjects and 15 normal control subjects. The results showed first, that the performance of the brain-damaged subjects was inferior to that of the control subjects in processing implicature; second, that indirect request understanding was easier than indirect refusal understanding in the brain-damaged subjects, and third that indirect refusal understanding in of the left hemisphere damaged subjects was inferior to that of the right hemisphere damaged subjects. There was no group difference in indirect request understanding though the ability of brain-damaged subjects was poorer than that of the normal controls. These findings suggest that LHD and RHD subjects were not the same in implicature processing and their responses depended on the implicature’s modularity (refusal and request).
A Church-based Diabetes Self-management Education Program for African Americans With Type 2 Diabetes

Introduction Diabetes self-management education interventions in community gathering places have been moderately effective, but very few studies of intervention effectiveness have been conducted among African Americans with type 2 diabetes. This paper describes a church-based diabetes self-management education intervention for African Americans, a randomized controlled trial to evaluate the intervention, and baseline characteristics of study participants. Methods A New DAWN: Diabetes Awareness & Wellness Network was conducted among 24 churches of varying size in North Carolina. Each church recruited congregants with type 2 diabetes and designated a diabetes advisor, or peer counselor, to be part of the intervention team. Participants were enrolled at each church and randomized as a unit to either the special intervention or the minimal intervention. The special intervention included one individual counseling visit, twelve group sessions, three postcard messages from the participant's diabetes care provider, and twelve monthly telephone calls from a diabetes advisor. Baseline data included measures of weight, hemoglobin A1c, blood pressure, physical activity, dietary and diabetes self-care practices, and psychosocial factors. The study to evaluate the intervention (from enrollment visit to last follow-up) began in February 2001 and ended in August 2003. Results Twenty-four churches (with 201 total participants) were randomized. Sixty-four percent of the participants were women. On average, the participants were aged 59 years and sedentary. They had an average of 12 years of education, had been diagnosed with diabetes for 9 years, had a body mass index of 35, had a hemoglobin A1c level of 7.8%, and had a reported dietary intake of 39% of calories from fat. Conclusion A New DAWN is a culturally sensitive, church-based diabetes self-management education program for African Americans with type 2 diabetes that is being evaluated for effectiveness in a randomized controlled trial. The outcomes of A New DAWN will contribute to the literature on community-based interventions for minority populations and help to inform the selection of approaches to improve diabetes care in this population.
Neuropathological Findings in a Patient with Epilepsy and the Parry–Romberg Syndrome

Summary: Purpose: The Parry–Romberg syndrome is an unusual disorder frequently associated with epilepsy. The origin of this disease, and the cause of epilepsy, are unknown. This study is the first reported case of the Parry–Romberg syndrome, with intractable temporal lobe epilepsy, in which detailed microanatomic analyses have been performed on resected brain tissue obtained after surgical intervention.
Multiple factors are involved in the dysarthria associated with Parkinson's disease: a review with implications for clinical practice and research.

PURPOSE Motor speech abnormalities are highly common and debilitating in individuals with idiopathic Parkinson's disease (IPD). These abnormalities, collectively termed hypokinetic dysarthria (HKD), have been traditionally attributed to hypokinesia and bradykinesia secondary to muscle rigidity and dopamine deficits. However, the role of rigidity and dopamine in the development of HKD is far from clear. The purpose of the present study was to offer an alternative view of the factors underlying HKD. METHOD The authors conducted an extensive, but not exhaustive, review of the literature to examine the evidence for the traditional view versus the alternative view. RESULTS The review suggests that HKD is a highly complex and variable phenomenon including multiple factors, such as scaling and maintaining movement amplitude and effort; preplanning and initiation of movements; internal cueing; sensory and temporal processing; automaticity; emotive vocalization; and attention to action (vocal vigilance). Although not part of the dysarthria, nonmotor factors, such as depression, aging, and cognitive-linguistic abnormalities, are likely to contribute to the overall speech symptomatology associated with IPD. CONCLUSION These findings have important implications for clinical practice and research.
Accurate Event-Driven Motion Compensation in High-Resolution PET Incorporating Scattered and Random Events

With continuing improvements in spatial resolution of positron emission tomography (PET) scanners, small patient movements during PET imaging become a significant source of resolution degradation. This work develops and investigates a comprehensive formalism for accurate motion-compensated reconstruction which at the same time is very feasible in the context of high-resolution PET. In particular, this paper proposes an effective method to incorporate presence of scattered and random coincidences in the context of motion (which is similarly applicable to various other motion correction schemes). The overall reconstruction framework takes into consideration missing projection data which are not detected due to motion, and additionally, incorporates information from all detected events, including those which fall outside the field-of-view following motion correction. The proposed approach has been extensively validated using phantom experiments as well as realistic simulations of a new mathematical brain phantom developed in this work, and the results for a dynamic patient study are also presented.
Evolution of neural networks using Cartesian Genetic Programming

A novel Neuroevolutionary technique based on Cartesian Genetic Programming is proposed (CGPANN). ANNs are encoded and evolved using a representation adapted from the CGP. We have tested the new approach on the single pole balancing problem. Results show that CGPANN evolves solutions faster and of higher quality than the most powerful algorithms of Neuroevolution in the literature.