Miracle-dz/UniFAR-FTUs huggingface dataset:
Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --> Ser substitution in type I collagen and an unrelated patient with an identical mutation.

We examined the type I collagen synthesized by cultured dermal fibroblasts from a patient affected with osteogenesis imperfecta (OI) type IV. Both normal and abnormal trimers were produced. The mutant collagen molecules were excessively modified intracellularly, had a melting temperature 4 degrees C lower than the control, were secreted at a reduced rate, and underwent delayed processing to mature alpha chains.Molecular investigations identified a G --> A transition in one COL1A2 allele, resulting in a Gly922 --> Ser substitution in the alpha2(I) chain. The proband's mutation was demonstrated to arise "de novo" by the absence of the mutant allele restriction enzyme pattern from parental genomic DNA.We analyzed the insoluble extracellular matrix deposited by long-term cultured fibroblasts from our patient and from a previously described unrelated individual who carries an identical substitution. In both cases, the mutant chain constituted 10-15% of the total alpha chains deposited.We also present here the first detailed comparison of phenotype between unrelated OI patients with an identical collagen mutation. These two patients are both Caucasian females, ages 8 and 9 years, each diagnosed as type IV OI by the Sillence classification. They have a similar phenotype including moderate skeletal fragility with several femur fractures, dentinogenesis imperfecta, wormian bone, and reduced height and weight. We conclude that this phenotype is related both to the location of this mutation and to the similar extent of matrix incorporation by the mutant chains. Molecular and biochemical studies of unrelated individuals with identical amino acid substitutions in type I collagen resulting in either similar or dissimilar clinical outcomes will make a significant contribution to identifying the factors involved in the modulation of the OI phenotype.
INTERFERON PRODUCTION IN MICE BY CELL WALL MUTANTS OF SALMONELLA TYPHIMURIUM. III. ROLE OF LIPID MOIETY OF BACTERIAL LIPOPOLYSACCHARIDE IN INTERFERON PRODUCTION IN ANIMALS *

The interferon response elicited by Salmonella typhimurium mutants in mice is not dependent on the presence of a complete cell wall lipopolysaccharide. In fact, a mutant (G30/C21) which has lost all the polysaccharide side chains and sugars of the O antigen and contains only 2-keto-3-deoxyoctonate and lipid is indistinguishable in its interferon-stimulating ability from the wild type which possesses a complete O antigen with polysaccharide side chains.
A Probabilistic Model of the LMAC Protocol for Concurrent Wireless Sensor Networks

We present a probabilistic model for the network setup phase of the Lightweight Medium Access Protocol (LMAC) for concurrent Wireless Sensor Networks. In the network setup phase, time slots are allocated to the individual sensors through resolution of successive collisions. The setup phase involving collisions should preferably be as short as possible for efficiency and energy consumption reasons. This concurrent stochastic process has inherent internal nondeterminism, and we model it using combinatorics. The setup phase is modeled by a discrete time Markov chain such that we can apply results from the theory of phase type distributions. Having obtained our model we are able to find optimal protocol parameters. We have simultaneously developed a simulation model, partly to verify our analytical derivations and partly to be able to deal with systems of excessively high order or stiff systems that might cause numerical challenges. Our abstracted model has a state space of limited size where the number of states are of the order binomial (n+r+1,n), where n is number of sensors, and r is the maximum back off time. We have developed a tool, named LMAC analyzer, on the MATLAB platform to assist automatic generation and analysis of the model.
K14‐EGFP‐miR‐31 transgenic mice have high susceptibility to chemical‐induced squamous cell tumorigenesis that is associating with Ku80 repression

Squamous cell carcinoma (SCC) occurring in the head and neck region and the esophagus causes tremendous cancer mortality around the world. miR‐31 is among the most eminently upregulated MicroRNAs in SCC, when it occurs in the head and neck region and the esophagus. We established miR‐31 transgenic mouse lines, in which miR‐31 is under the control of the K14 promoter. 4‐nitroquinoline 1‐oxide (4NQO) is a mutagen that causes double strand breaks. The transgenic mice exhibited a higher potential for tumor induction than wild‐type (Wt) mice of the tongue and esophagus after 4NQO treatment. After 4NQO treatment or irradiation, p‐γH2AX expression in squamous epithelium of transgenic mice was increased more than in Wt mice. Exogenous expression of miR‐31 was also found to be associated with the higher p‐γH2AX expression induced by 4NQO in human oral SCC (OSCC) cell lines. The repair genes PARP1 and Ku80 were validated as new targets of miR‐31 in human OSCC cell lines, and were found to be downregulated in the squamous epithelium of the tongue in transgenic mice. However, only the downregulation of Ku80 was essential for maintaining the high level of p‐γH2AX induced by 4NQO in OSCC cells. Inverse expression profiles for miR‐31 and Ku80 were noted in human OSCC tissue. Our study identifies the high sensitivity of K14‐EGFP‐miR‐31 transgenic mice to chemical carcinogen‐induced squamous cell tumorigenesis and shows that this seems to be associated with the downregulation of Ku80 and an impairment of repair activity in squamous cells, which are mediated by miR‐31.
Correlation between particle size and surface area for chlorite and K-feldspar

The specific surface area as determined by BET analysis is often used for scaling mineral surface reaction capacities and rates between particles of different sizes as found in nature. Generally, an inverse proportionality between BET area and particle size is assumed, based on geometry. However, macroscopic laboratory studies of mineral surface reactions generally employ crushed material that may have been me-chanically disturbed, potentially leading to an artificial increase in the specific surface area, and a change in the apparent surface reactivity. In this study, we determine the BET area for natural K-feldspar and chlorite samples from Sweden as function of particle size in a first step towards relating the surface reactivity for these minerals to grain size.
Uterine atony at a tertiary care hospital in Pakistan: a risk factor analysis.

OBJECTIVES To identify risk factors for uterine atony following assisted or unassisted vaginal delivery. DESIGN This hospital based case control study was done at The Aga Khan University Karachi, Pakistan. Cases were defined as all women with uterine atony within 24 hours of an assisted or unassisted vaginal delivery. Controls were based on women with normal assisted or unassisted vaginal delivery without uterine atony. Data abstracted form the medical records; adjusted odds ratios were estimated by multiple logistic regression. RESULTS Factors having a significant association with uterine atony were gestational diabetes mellitus (odds ratio 7.6, 95% CI 6.9-9.0, p = 0.003) and a prolonged second stage of labour in multiparas (odds ratio 4.0, 95% CI 3.1-5.0, p = 0.002). No associations were found with high parity, age, preeclampsia, augmentation of labour, antenatal anemia and a history of poor maternal or perinatal outcomes. CONCLUSIONS Among previously documented risk factors for uterine atony, only a prolonged second stage of labour in multiparas was found to be significant in this study. Gestational diabetes mellitus, a previously undocumented factor, has also been identified as an independent risk factor. Multiparity and age were not found to be significant risk factors. The study underlines the importance of confirming these findings for better prevention and management of uterine atony.
Low-Grade (Fibromatosis-Like) Spindle Cell Carcinoma of the Breast

Spindle cell carcinoma of the breast, a variant of metaplastic carcinoma, includes a wide spectrum of lesions with histomorphologic and nuclear features ranging from overtly malignant to mildly atypical. Spindle cell carcinomas with mildly atypical features may resemble fasciitis, fibromatosis, or myofibroblastic tumors and therefore are often misinterpreted as such. A recent study has suggested that spindle cell carcinomas with a dominant fibromatosis-like phenotype, unlike spindle cell carcinomas in general, have no propensity for distant metastasis and should be termed “tumors” rather than “carcinomas. ” To investigate the question of fibromatosis-like spindle cell breast carcinoma (FLSpCCs) metastatic potential, we studied cases of FLSpCC seen at the University of Texas M.D. Anderson Cancer Center between 1987 and 2000. Clinical, pathologic, and immunophenotypic features were reviewed, with emphasis on biologic behavior and predictors of clinical outcome. Our series included 24 women who ranged in age from 55 to 85 years (mean 66 years). Tumor size ranged from 1.0 to 5 cm (mean 2.8 cm). Most tumors were grossly well defined but had microscopic infiltrative borders. Tumors showed a dominant fibromatosis-like or myofibroblastic-like growth pattern with prominent collagenization. Inflammatory infiltrate was noted in the majority of tumors. Cytokeratin-positive cells were seen in all cases and usually appeared as cords or sheets of polygonal cells; isolated cytokeratin-positive cells were rare. In most tumors immunoreactivity for smooth muscle actin (SMA) was confined to the cytokeratin-negative cells. In five cases intense co-expression of cytokeratin and SMA was noted. None of the tumors showed immunoreactivity for smooth muscle heavy chain myosin, estrogen receptors, progesterone receptors, or HER-2/neu. Ki-67 expression was noted in fewer than 5% of tumor cells. Treatment consisted of local excision (seven cases) or modified radical mastectomy (13 cases). Treatment was unknown in four cases. In patients who underwent axillary nodal dissection, no lymph node metastases were found. Two of the six patients who underwent local excision developed local recurrence. Two patients who underwent modified radical mastectomy developed lung metastases within 2 years after the initial diagnosis. The metastatic tumors were histologically similar to the primary tumors. Our findings indicate that FLSpCCs have the potential for local recurrence and distant metastasis and should be treated accordingly. Because FLSpCCs may be underdiagnosed as benign, the use of immunohistochemical studies, especially for cytokeratins and SMA, is essential in the evaluation of any spindle cell proliferations of the breast.
An alternative technique of microvascular anastomosis

The femoral arteries and veins of rats were severed and reanastomosed, using either the conventional interrupted suture technique or an alternative interrupted technique that allows the lumen to remain visible throughout the reanastomosis procedure. The alternative technique involves placing the sutures in the posterior wall of the vessel, eliminating the necessity of rotating the microsurgical clamp during the anastomosis. Clinically, this method may be advantageous in cases where the anastomosis is being performed in a deep wound in which there is no room to turn over the microclamp. Additionally, this technique allows the posterior wall of the vessel to be observed throughout the anastomosis procedure, reducing the possibility of accidental placement of sutures through the posterior wall and resulting nonpatency. There was no significant difference between the two techniques in terms of operating time, patency rate, aneurysm formation, arteriography, and histological findings.
A search for an essential function of the replication origin ARS1 in the life cycle of Saccharomyces cerevisiae

We have investigated the significance of the chromosomal replication origin, ARS1, during the entire life cycle of yeast. This was done by substituting the chromosomal copy with a series of ars1 deletion mutants. It was shown that the ARS1 replication origin is not essential for mitotic or premeiotic DNA replication since no effect on growth, chromosomal loss rate and spore viability was observed in the ars1 mutant strains. We conclude that replication origins are abundantly, present in the yeast genome and that the removal of a single replication origin is compensated for by replication forks emanating from neighbouring origins.
Movement of the So-Called Hairs in the Ampullar Organs of Fish Ears.

The possibilitv of movement of the sensory cells in the ampulla of the ear and the effects of such movement upon muscular tonus were considered by Ewald (1892). He assumed that there might be ciliary activity of the sensory cells, the hair cells of the crista, although the movements might be so slight as to be imperceptible. The assumptions of Ewald were apparently based upon theoretical considerations only and not upon specific observations. Ecker (1844), however, recorded the movement of the hair cells in the ear of Petromyzon marinus. The hair cells which he observed were from the semicircular canal and, according to his report, each cell bore a single ciliary hair which was very long in comparison with the length of the cell. Movement of a hair was described as a bending of the tip followed by a lashing in which the basal portion of the cell took little part. No report of the movement of hair cells in ears, except that given by Ecker, is known to me. While engaged in the study of the fish ear I have found that movement of the hairs is not limited to cyclostomes but is also present in the teleosts, for instance, in Ameiurus nebulosus. In this preliminary paper I shall report only observations relative to such movement and leave other findings for more detailed consideration. My studies have been under the direction of Prof. G. H. Parker, to whom I am indebted for kindly criticism and many valuable suggestions. In the course of my investigations I have had occasion to use many preparations of living cristae acusticae of Ameiurus. These cristae have been so arranged that the full length of the sensory epitbelium of each crista might be viewed with the lower power of the microscope or selected portions under a higher magnification. In sixteen of the preparations, which I have made from as many different individuals, I have seen active 192 PROC. N. A. S.
Attenuation of nociceptin/orphanin FQ‐induced signaling by N‐methyl‐D‐aspartate in neuronal cells

ACUTE incubation of NMDA with neuroblastom a × glioma hybrid (NG108–15) cells or neuroblastoma SK-N-SH cells produced significant attenuation of nociceptin/orphanin FQ (N/OFQ)-induced activation of G protein and inhibition of adenylyl cyclase. The attenuation of N/OFQ signaling by NMDA was dose-dependent, blockable by NMDA antagonists, and not observed in cells lacking NMDA receptors, indicating that the effect of NMDA is mediated by the NMDA receptor. Furthermore, NMDA antagonist pretreatment greatly attenuated N/OFQ-induced acute homologous desensitization of ORL1. Interestingly, the signaling induced by etorphine, an opioid agonist of wide spectrum, was sensitive to NMDA treatment in NG108–15 but insensitive in SK-N-SH cells, suggesting differential modulation of opioid signaling by NMDA. The attenuation effects of NMDA on μ opioid receptor-mediated signaling were also observed.
Coaches’ experience of critical moments in the coaching

This paper presents the findings of a qualitative research study into Coaches’ experience ofcritical momentsin the coaching relationship. Interviews were completed with a total of 28 experienced coaches. The research highlighted that critical moments are unforeseen and characterised by intense emotions and anxiety within the coaching relationship. These moments were most often seen to be turning points in the work. Coaches reported that they resulted in either insight for their clients or a distancing, or even breakdown, in the coaching relationship. Their accounts indicate that the outcome of these moments is influenced by the coach’s containment of both their and their client’s emotions. This process of containment involved coaches being aware of their own emotions and the reactions of their client, making a link with what was taking place in the coaching relationship and reflecting on their experience with their client in a manner that led to heightened awareness for the client. In situations where a distancing occurred between coach and client, this was associated with either an aggressive response or an avoidant response by one or both parties. Coaches reported using supervision to help them to make sense of critical moments, to gain reassurance that they responded appropriately and to learn from these moments. These findings demonstrate the importance to the coaching process of personal insight on the part of the coach, reflexivity in the coaching relationship and emotional containment by both the coach and the coaching supervisor.
THE ROLE OF LANDSCAPE AMENITIES IN REGIONAL DEVELOPMENT: A SURVEY OF MIGRATION, REGIONAL ECONOMIC AND HEDONIC PRICING STUDIES

Quality of life factors continue to gain importance in residential location decisions as well as location decisions of firms. One such factor is an attractive local landscape. The aim of this paper is to provide a survey of the empirical literature on the role of landscape amenities in local economic change. Following common amenity definitions, we define landscape amenities as landscape features that are location-specific, latent non-market input goods that directly enter residentsi? ½ utility functions. Using this definition we identify thirty-nine relevant studies that use either migration or regional economic models or hedonic pricing techniques. One result from the analysis of migration and regional economic studies is that intra-country migrants were attracted by amenities about as frequently as by a low tax burden. Effects of amenities on employment and income are less well established. However, many of these studies used rather limited amenity variables. The results from hedonic studies show that a wide variety of local amenity attributes are partly capitalized in housing prices and that studies on a larger geographic scale are more likely to identify a significant a role of amenities. Newly available land cover datasets and spatial analysis tools have the potential to overcome important data limitations of many earlier studies. Future research may thus contribute to a better understanding of the role of landscape amenities in economic change and to a better coordination of regional and environmental policies.
Knowledge of Memory Aging Across the Lifespan

ABSTRACT. The authors examined knowledge of normal and pathological memory aging in a lifespan sample of 198 individuals who ranged in age from 13 to 88 years. Participants completed the Knowledge of Memory Aging Questionnaire (Cherry, Brigman, Hawley, & Reese, 2003). The authors hypothesized that high school students would be less knowledgeable about memory aging issues than college students, middle-aged, and community-dwelling older adults. Consistent with this hypothesis, response accuracy was lower for high school students compared to their older counterparts. Follow-up analyses revealed that high school students’ responses to a subset of questions that tap ageist views of adult cognition were less accurate than the other age groups, implying a response bias toward stereotypical images of memory aging. Implications for research and the design of instructional materials to increase people's knowledge about normative changes in adult cognition are discussed.
Long-Term Effects of Cochlear Implants in Children

OBJECTIVE: Since 1987, when the use of multichannel cochlear implants was initiated in children, candidacy has expanded; many thousands of children have received these devices, and results have revealed a wide range of performance. However, few long-term studies exist on a large population of these children. There have been concerns expressed that cochlear implant function might degrade over time, that devices and electrodes might migrate and extrude in the growing child, or that there might even be a deleterious effect of long-term stimulation of the cochlear nerve. The purpose of this study was to explore the long-term effects of implantation as a function of performance over time, reimplantation, and educational factors. STUDY DESIGN AND SETTING: We studied 81 children who received implants at a major academic medical center and were followed for 5 to 13 years. RESULTS: Results revealed significant gains in speech perception, use of oral language, and ability to function in a mainstream environment. There was no decrease in performance over time and no significant incidence of device or electrode migration or extrusion, and device failure did not cause a deterioration in long-term outcome. CONCLUSIONS: Multichannel cochlear implants in children provide perception, linguistic, and educational advantages, which are not adversely affected by long-term electrical stimulation.
Tomoi (Muay Thai Kickboxing) death: A lesson learned

Introduction: Tomoi also known as Muay Thai kickboxing is referred to as “The Science of Eight Limbs”. Deaths do occur, however, sprained fingers and toes, cuts and bruises on the head, face and neck and bloody noses are the more typical injuries. Case Report: We report a case of Tomoi kick boxer who sustained severe traumatic brain injury in the ring during an inaugural Tomoi kickboxing competition in northeastern Kelantan. Conclusion: This was the first time such a case had been reported in Malaysia. Health and safety measures to avoid such injury are also recommended.
Increased Iron Requirement in Hemodialysis Patients on Antiplatelet Agents or Warfarin

Background/Aims: Many hemodialysis patients receive antiplatelet therapy or warfarin; however, little is known about the effect of this on iron requirements. Given the association of antiplatelet therapy with bleeding we hypothesized that there should be a greater need for iron in such patients, which we tested in this study. Methods: Retrospective 1-year cohort study of 205 chronic hemodialysis patients. The primary outcome variable was total iron dose, which was analyzed according to antiplatelet/warfarin use. Data were also collected on potential confounders, allowing for both unadjusted and adjusted (multiple regression) analysis. Results: 97/205 patients received antiplatelet/warfarin therapy. This group was older, with a higher incidence of macrovascular disease and diabetes and a higher median C-reactive protein (6.0 vs. 3.75 mg/l). Overall, median iron requirement was 1,300 mg/year. In a multiple regression analysis, antiplatelet/warfarin use was associated with an additional iron requirement of 703 mg (95% confidence interval 188–1,220 mg), with the strongest effect observed in patients with normal inflammatory markers. Conclusion: We found a high requirement for iron in patients receiving antiplatelet agents/warfarin. We argue that the most likely mechanism for this association is chronic, low-grade blood loss, although further study is required before causality can be established.
Estrogens in human pregnancy plasma. I. Studies with gas chromatography.

The concentration of the 3 classical estrogens, 17β-estradiol, estrone, and estriol, was determined in pooled pregnancy plasma by a combination of chemical extraction and gas chromatography. When pregnancy plasma was fractionated by gas chromatography, peaks representing the 3 estrogens were characterized by melting point determination, infrared analysis, two-dimensional thin-layer chromatography, and formation of the acetate derivatives with subsequent gas chromatographic separation. The mean concentrations of estrogens per 100 ml. of pregnancy plasma were: estrone, 7.65 ± 1.60 µg. ; 17β-estradiol, 3.39 ± 1.95 µg. ; and estriol, 8.48 ± 2.34 µg.