Miracle-dz/UniFAR-FTUs huggingface dataset:
Muscle Imbalance in Hallux Valgus: An Electromyographic Study

Arinci İncel N, Genç H, Erdem HR, Yorgancioglu ZR: Muscle imbalance in hallux valgus: An electromyographic study. Am J Phys Med Rehabil 2003;82:345–349. Objective Hallux valgus is a very common foot deformity in modern societies. Muscle imbalance in abductor and adductor muscles was cited as a major factor in the production of hallux valgus. Our aim in this study was to evaluate the role of certain muscles in this deformity. Design Twenty hallux valgus patients and 20 healthy volunteers participated in the study. After thorough physical, neurologic, and radiographic investigations, we performed an electromyographic study to observe the relationship of hallux valgus deformity with the muscles coordinating first metatarsophalangeal joint movements. Voluntary extension, flexion, abduction, and adduction at the hallux with maximum resistance were performed. Firing rates and amplitudes of motor unit potentials of four muscles: musculus abductor hallucis, musculus adductor hallucis, musculus extensor hallucis longus, and musculus flexor hallucis brevis were recorded. Statistical analysis, including Spearman’s correlation analysis and Mann-Whitney U tests were performed with SPSS 8.0 for Windows. Results We observed that in the hallux valgus group, abduction activity of musculus abductor hallucis was markedly decreased when compared with adduction of musculus adductor hallucis. Motor unit potential amplitude of abductor activity recorded from musculus abductor hallucis was slightly more than half of the activity in flexion. Conclusion Muscle imbalance in abductor and adductor muscles is apparent in hallux valgus deformity, and this imbalance may be the reason or the result of joint deformity.
PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib.

PURPOSE Gastrointestinal stromal tumors (GISTs) commonly harbor oncogenic mutations of the KIT tyrosine kinase, which is a target for the kinase inhibitor imatinib. A subset of GISTs, however, contains mutations in the homologous kinase platelet derived growth factor receptor alpha (PDGFRA), and the most common of these mutations is resistant to imatinib in vitro. Little is known of the other types of PDGFRA mutations that occur in GISTs. MATERIALS AND METHODS We determined the KIT and PDGFRA mutation status of 1,105 unique GISTs using a combination of denaturing high-performance liquid chromatography and direct sequencing. RESULTS 66 in exon 18, 11 in exon 12, and three in exon 14. Transient expression of representative PDGFRA isoforms in CHO cells revealed imatinib sensitivity of exon 12 mutations (SPDHE566-571R and insertion ER561-562) and an exon 14 substitution (N659K). However, most isoforms with a substitution involving codon D842 in exon 18 (D842V, RD841-842KI, DI842-843IM) were resistant to the drug, with the exception of D842Y. Interestingly, other mutations in exon 18 (D846Y, N848K, Y849K and HDSN845-848P) were all imatinib sensitive. Proliferation studies with BA/F3 cell lines stably expressing selected PDGFRA mutant isoforms supported these findings. CONCLUSION Including our cases, there are 289 reported PDGFRA-mutant GISTs, of which 181 (62.6%) had the imatinib-resistant substitution D842V. However, our findings suggest that more than one third of GISTs with PDGFRA mutations may respond to imatinib and that mutation screening may be helpful in the management of these tumors.
Endothelial AT1-mediated release of nitric oxide decreases angiotensin II contractions in rat carotid artery.

The purpose of this study was to examine whether angiotensin II (Ang II) stimulates the release of endothelium-derived nitric oxide, which then impairs the contractions of vascular smooth muscle caused by the peptide, and to determine the receptor subtypes mediating these responses. Experiments were performed on isolated rings of rat carotid artery either incubated in the presence of phosphodiesterase inhibitor for the measurement of intracellular levels of cGMP or suspended in organ chambers for recording of changes in isometric force. Ang II (10(-7) mol/L) caused a twofold increase in intracellular cGMP level in preparations with but not in those without endothelium. The presence of endothelium impaired the contractions evoked by the peptide and caused approximately 50% inhibition of the maximal response to Ang II (3 x 10(-8) mol/L); pD2 values for Ang II were 8.9 +/- 0.1 and 9.6 +/- 0.2 in rings with and without endothelium, respectively. In rings with endothelium the contractions to Ang II were augmented by nitro-L-arginine (an inhibitor to nitric oxide synthase) but not indomethacin (an inhibitor of cyclooxygenase), to reach a response comparable to that of preparations without endothelium. In rings without endothelium losartan (a preferential angiotensin type 1 receptor antagonist) displayed competitive antagonism toward Ang II (pA2 = 9.5); PD 123319 (a preferential angiotensin type 2 receptor antagonist; up to 10(-7) mol/L) did not affect the response to the peptide. Losartan (3 x 10(-9) mol/L) but not PD 123319 (10(-7) mol/L) impaired the endothelium-dependent component of the response to the peptide. (ABSTRACT TRUNCATED AT 250 WORDS)
Engagement and Popularity Dynamics of YouTube Videos and Sensitivity to Meta-Data

YouTube, with millions of content creators, has become the preferred destination for viewing videos online. Through the Partner program, YouTube allows content creators to monetize their popular videos. Of significant importance for content creators is which meta-level features (title, tag, thumbnail, and description) are most sensitive for promoting video popularity. The popularity of videos also depends on the social dynamics, i.e., the interaction of the content creators (or channels) with YouTube users. Using real-world data consisting of about 6 million videos spread over 25 thousand channels, we empirically examine the sensitivity of YouTube meta-level features and social dynamics. The key meta-level features that impact the view counts of a video include: first day view count, number of subscribers, contrast of the video thumbnail, Google hits, number of keywords, video category, title length, and number of upper-case letters in the title, respectively, and illustrate that these meta-level features can be used to estimate the popularity of a video. In addition, optimizing the meta-level features after a video is posted increases the popularity of videos. In the context of social dynamics, we discover that there is a causal relationship between views to a channel and the associated number of subscribers. Additionally, insights into the effects of scheduling and video playthrough in a channel are also provided. Our findings provide a useful understanding of user engagement in YouTube.
Being the Next of Kin of an Adult Person With Muscular Dystrophy

A chronic disorder affects all members of the family in various ways. The aim of this study is to elucidate the next of kin's (N= 36) experiences when an adult family member has muscular dystrophy. The relationships were partner (36%, n= 14), parent (18%, n= 7), child (21%, n= 8), sibling (15%, n= 6), and other relative (3%, n= 1). Latent content analysis is employed and involves an interpretation of the interviewtext. The results showthe meaning of being close to a person with muscular dystrophy through the themes that emerged: exposure of the family; the span between obligation and love; being vigilant, protective, and supportive; and striving for an ordinary life. This study reveals a need for healthcare staff to understand the next of kin's narrated meaning of changes when a family member has a progressive disease.
Human quarantine: Toward reducing infectious pressure on chimpanzees at the Taï Chimpanzee Project, Côte d'Ivoire

Due to their genetic relatedness, great apes are highly susceptible to common human respiratory pathogens. Although most respiratory pathogens, such as human respiratory syncytial virus (HRSV) and human metapneumovirus (HMPV), rarely cause severe disease in healthy human adults, they are associated with considerable morbidity and mortality in wild great apes habituated to humans for research or tourism. To prevent pathogen transmission, most great ape projects have established a set of hygiene measures ranging from keeping a specific distance, to the use of surgical masks and establishment of quarantines. This study investigates the incidence of respiratory symptoms and human respiratory viruses in humans at a human‐great ape interface, the Taï Chimpanzee Project (TCP) in Côte d'Ivoire, and consequently, the effectiveness of a 5‐day quarantine designed to reduce the risk of potential exposure to human respiratory pathogens. To assess the impact of quarantine as a preventative measure, we monitored the quarantine process and tested 262 throat swabs for respiratory viruses, collected during quarantine over a period of 1 year. Although only 1 subject tested positive for a respiratory virus (HRSV), 17 subjects developed symptoms of infection while in quarantine and were subsequently kept from approaching the chimpanzees, preventing potential exposure in 18 cases. Our results suggest that quarantine—in combination with monitoring for symptoms—is effective in reducing the risk of potential pathogen exposure. This research contributes to our understanding of how endangered great apes can be protected from human‐borne infectious disease.
Glucocorticoid receptor expression in whole blood with preterm infants

Abstract Background: Although glucocorticoid hormones play important roles in fetal development, the expression of their receptors in the whole blood of preterm infants remains unknown. Objectives: The aim of this study was to investigate the levels of glucocorticoid receptor (GR) α and β in the whole blood of preterm and term infants. Study design: The study group consisted of 131 infants, of which 54 (41%) were preterm. Whole blood from preterm and term infants was analyzed by real-time PCR to monitor the levels of each receptor mRNA. Results: GRβ mRNA were detected in 96.6% and GRα mRNA in 100% of participants. The GRα and GRβ isoforms were detected at a ratio of 1:0.0002. GRβ mRNA/GAPDH expression in preterm infants was significantly higher than that in term infants (p=0.002). There was significant correlation between GRα/GRβ ratio and birth weight in preterm infants (rs=0.317, p=0.019), as well as between GRβ/GAPDH expression and birth weight (rs=–0.296, p=0.030). Furthermore, in preterm infants, GRβ/GAPDH expression was higher in those with SGA than in those without SGA (p=0.022). Conclusion: Importantly, in preterm infants, both the expression of GRβ and the GRα/GRβ ratio were associated with birth weight. Further studies with larger populations are necessary to determine the relation between the expression of GR and the clinical relevance of preterm infants.
Immediate vs. delayed loading in the posterior mandible: a split-mouth study with up to 15 years of follow-up.

PURPOSE The aim of this study was to evaluate the long-term clinical and radiographic outcomes of implants that were immediately loaded in a prospective, randomized, split-mouth clinical trial in the posterior mandible. MATERIALS AND METHODS Patients with alveolar ridges that were bilaterally edentulous distal to the canines were enrolled to participate. On one randomly selected side of each patient's jaw, three implants (control group) with platform switching and a progressive thread design were placed, allowed to heal for 3 months, uncovered, and loaded occlusally using resin-splinted crowns, which then were replaced 6 weeks later by final prostheses. Three additional implants (test group) of the same size and design were placed on the contralateral side of each patient in symmetrical locations. The test implants were connected to their final abutments immediately after placement and immediately loaded. Periodontal indices and bone loss were evaluated at regular intervals. RESULTS After a mean loading period of 12.14 (±0.89) years for the test group and 12.40 (±0.89) years for controls, differences between the immediately and delayed loaded implants were not statistically significant (P > 0.05). The crestal bone loss was (mesial) 0.70 (±1.09) mm (test group) and 1.17 (±1.27) mm (control group) and the distal bone loss was 0.43 (±1.02) mm (test group) and 1.06 (±1.33) mm (control group) (P > 0.05). The maximum crestal bone loss was 3.12 mm for the test group and 3.78 mm for the controls after 10.125/10.397 years, respectively. CONCLUSION Immediate loading does not negatively influence the long-term prognosis of dental implants in the posterior mandible, improves the implant stability, and is associated with minimal crestal bone loss when platform switching and a one-abutment concept with a Morse-tapered connection are used.
Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins

We describe monozygotic twin girls with genetic variation at two separate loci resulting in a blended phenotype of Prader–Willi syndrome and Pitt–Hopkins syndrome. These girls were diagnosed in early infancy with Prader–Willi syndrome, but developed an atypical phenotype, with apparent intellectual deficiency and lack of obesity. Array‐comparative genomic hybridization confirmed a de novo paternal deletion of the 15q11.2q13 region and exome sequencing identified a second mutational event in both girls, which was a novel variant c.145+1G>A affecting a TCF4 canonical splicing site inherited from the mosaic mother. RNA studies showed that the variant abolished the donor splicing site, which was accompanied by activation of an alternative non‐canonical splicing‐site which then predicts a premature stop codon in the following exon. Clinical re‐evaluation of the twins indicated that both variants are likely contributing to the more severe phenotypic presentation. Our data show that atypical clinical presentations may actually be the expression of blended clinical phenotypes arising from independent pathogenic events at two loci.
A contusive model of unilateral cervical spinal cord injury using the infinite horizon impactor.

While the majority of human spinal cord injuries occur in the cervical spinal cord, the vast majority of laboratory research employs animal models of spinal cord injury (SCI) in which the thoracic spinal cord is injured. Additionally, because most human cord injuries occur as the result of blunt, non-penetrating trauma (e.g. motor vehicle accident, sporting injury) where the spinal cord is violently struck by displaced bone or soft tissues, the majority of SCI researchers are of the opinion that the most clinically relevant injury models are those in which the spinal cord is rapidly contused. (1) Therefore, an important step in the preclinical evaluation of novel treatments on their way to human translation is an assessment of their efficacy in a model of contusion SCI within the cervical spinal cord. Here, we describe the technical aspects and resultant anatomical and behavioral outcomes of an unilateral contusive model of cervical SCI that employs the Infinite Horizon spinal cord injury impactor. Sprague Dawley rats underwent a left-sided unilateral laminectomy at C5. To optimize the reproducibility of the biomechanical, functional, and histological outcomes of the injury model, we contused the spinal cords using an impact force of 150 kdyn, an impact trajectory of 22.5° (animals rotated at 22.5°), and an impact location off of midline of 1.4 mm. Functional recovery was assessed using the cylinder rearing test, horizontal ladder test, grooming test and modified Montoya's staircase test for up to 6 weeks, after which the spinal cords were evaluated histologically for white and grey matter sparing. The injury model presented here imparts consistent and reproducible biomechanical forces to the spinal cord, an important feature of any experimental SCI model. This results in discrete histological damage to the lateral half of the spinal cord which is largely contained to the ipsilateral side of injury. The injury is well tolerated by the animals, but does result in functional deficits of the forelimb that are significant and sustained in the weeks following injury. The cervical unilateral injury model presented here may be a resource to researchers who wish to evaluate potentially promising therapies prior to human translation.
Regulation of myocardial Ca2+-ATPase and phospholamban mRNA expression in response to pressure overload and thyroid hormone.

The sarcoplasmic reticulum (SR) and the contractile protein myosin play an important role in myocardial performance. Both of these systems exhibit plasticity--i.e., quantitative and/or qualitative reorganization during development and in response to stress. Recent studies indicate that SR Ca2+ uptake function is altered in adaptive cardiac hypertrophy and failure. The molecular basis (genetic and phenotypic) for these changes is not understood. In an effort to determine the underlying causes of these changes, we characterized the rabbit cardiac Ca2+-ATPase phenotype by molecular cloning and ribonuclease A mapping analysis. Our results show that the heart muscle expresses only the slow-twitch SR Ca2+-ATPase isoform. Second, we quantitated the steady-state mRNA levels of two major SR Ca2+ regulatory proteins, the Ca2+-ATPase and phospholamban, to see whether changes in mRNA content might provide insight into the basis for functional modification in the SR of hypertrophied hearts. In response to pressure overload hypertrophy, the relative level of the slow-twitch/cardiac SR Ca2+-ATPase mRNA was decreased to 34% of control at 1 week. The relative Ca2+-ATPase mRNA level increased to 167% of control after 3 days of treatment with thyroid hormone. In contrast, in hypothyroid animals, the relative Ca2+-ATPase mRNA level decreased to 51% of control at 2 weeks. The relative level of phospholamban mRNA was decreased to 36% in 1-week pressure overload. Hyperthyroidism induced a decrease to 61% in the phospholamban mRNA level after 3 days of treatment, while hypothyroidism had virtually no effect on phospholamban mRNA levels. These data indicate that the expression of SR Ca2+-ATPase and phospholamban mRNA may not be coordinately regulated during myocardial adaptation to different physiological conditions.
Comparative genome‐wide profiling of post‐transplant lymphoproliferative disorders and diffuse large B‐cell lymphomas

Post‐transplant lymphoproliferative disorders (PTLD) are a major complication of solid organ transplantation, representing a cause of severe morbidity and mortality. Apart from Epstein–Barr virus infection, knowledge of the pathogenesis of monoclonal PTLD is limited. Powerful analysis techniques, such as whole genomic DNA profiling (array comparative genomic hybridisation), can improve our understanding of PTLD pathogenesis. Whole genome profiling using the Affymetrix GeneChip Human Mapping 10 k 2·0 was performed on 20 PTLD cases and 25 cases of diffuse large B‐cell lymphoma (DLBCL) from immunocompetent patients as a control group. Recurrent lesions were detected among all the samples. Chromosome 18q, 7q, 3q and 12 were the most common gains in the control group. Chromosomes 5p and 11p were commonly gained in PTLD–DLBCL. The latter had frequent losses of 6q, 17p, 1p and 9p. Chromosome 12p was the most frequent target of deletions among PTLD–DLBCL cases. Loss of heterozygosity (LOH) did not always match DNA loss: chromosome 10 seemed to be targeted by uniparental disomy in PTLD. Small deletions and gains, involving both known (BCL2 and PAX5) and unknown genes (ZDHHC14), were identified. These data suggest that PTLD share, at a lower frequency, common genetic aberrations with DLBCL from immunocompetent patients. The demonstration of 9p13 amplification emphasises the importance of PAX5 in PTLD. The combination of DNA copy number and LOH assessment lead to the hypothesis that uniparental disomy may be a potential mechanism in B‐cell lymphomagenesis.
Assembly of aryl‐capped siderophores by modular peptide synthetases and polyketide synthases

Bacterial siderophores assist pathogens in iron acquisition inside their hosts. They are often essential for achieving a successful infection, and their biosynthesis represents an attractive antibiotic target. Recently, several siderophore biosynthetic loci have been identified, and in vitro studies have advanced our knowledge of the biosynthesis of aryl‐capped peptide and peptide–polyketide siderophores from Mycobacterium spp. , Pseudomonas spp. , Yersinia spp. and other bacteria. These studies also provided insights into the assembly of related siderophores and many secondary metabolites of medical relevance. Assembly of aryl‐capped peptide and peptide–polyketide siderophores involves non‐ribosomal peptide synthetase, polyketide synthase and non‐ribosomal‐peptide polyketide hybrid subunits. Analysis of these subunits suggests that their domains and modules are functionally and structurally independent. It appears that nature has selected a set of functional domains and modules that can be rearranged in different order and combinations to biosynthesize different products. Although much remains to be learned about modular synthetases and synthases, it is already possible to conceive strategies to engineer these enzymes to generate novel products.
Interactions between genetic predisposition and environmental toxicants for development of lung cancer

Significant interindividual variations in health outcome may be caused by the inheritance of variant polymorphic genes, such as CYP2D6 and CYP2E1 for activation, and GSTM1 and GSTT1 for detoxification of chemicals. However, mechanistic studies linking the inheritance of predisposing genes with genotoxic effects towards cancer have yet to be systematically conducted. We have studied 54 lung cancer patients and 50 matched normal controls, who have been cigarette smokers, to elucidate the role of polymorphic genes in cancer. Our data indicates that the inheritance of unfavorable CYP2D6, CYP2E1, and GSTT1 genes is strongly correlated with the smoking‐related lung cancer. For heavy cigarette smokers (<30 pack‐years), the smoking habit is the strongest predictor of lung cancer risk irrespective of the inheritance of unfavorable metabolizing genes. For moderate to light smokers (<30 pack‐years), the genetic predisposition plays an important role for the risk (odds ratio = 3.46; 95% CL = 0.46–40.2). Using a subgroup of the study population, we observed that cigarette smokers having the defective GST genes have significantly more chromosome aberrations as determined by the fluorescence‐in‐situ‐hybridization (FISH) technique than smokers with the normal GST genes (P < 0.001). In conclusion, our study provides data to indicate that individuals who have inherited unfavorable metabolizing genes have increased body burden of toxicants to cause increased genetic damage and to have increased risk for cancer. Studies like ours can be used to understand the basis for interindividual variations in cancer outcome, to identify high risk individuals and to assess health risk. Environ. Mol. Mutagen. 30:196–204, 1997. © 1997 Wiley‐Liss, Inc.