Miracle-dz/UniFAR-FTUs huggingface dataset:
Dominant‐negative effects of episodic ataxia type 2 mutations involve disruption of membrane trafficking of human P/Q‐type Ca2+ channels

Episodic ataxia type 2 (EA2) is an autosomal dominant neurological disorder associated with mutations in the gene encoding pore‐forming α1A subunits of human P/Q‐type calcium (CaV2.1) channels. The exact mechanism of how mutant channels cause such clinical EA2 features as cerebellar dysfunctions, however, remains unclear. Our previous functional studies in Xenopus oocytes support the idea that EA2 mutants may exert prominent dominant‐negative effects on wild‐type CaV2.1 channels. To further pursue the mechanism underlying this dominant‐negative effect, we examined the effects of EA2 mutants on the subcellular localization pattern of GFP‐tagged wild‐type CaV2.1 channels in HEK293T cells. In the presence of EA2 mutants, wild‐type channels displayed a significant deficiency in membrane targeting and a concurrent increase in cytoplasm retention. Moreover, the cytoplasmic fraction of wild‐type channels co‐localized with an endoplasmic reticulum (ER) marker, suggesting that a significant amount of wild‐type CaV2.1 channels was trapped in the ER. This EA2 mutant‐induced ER retention pattern was reversed by lowering the cell incubation temperature from 37 to 27°C. We also inspected the effects of untagged EA2 mutants on the functional expression of GFP‐tagged wild‐type CaV2.1 channels in HEK293T cells. Whole‐cell current density of wild‐type channels was diminished in the presence of EA2 mutants, which was also reversed by 27°C incubation. Finally, biochemical analyses indicated that EA2 mutants did not significantly affect the protein expression level of wild‐type channels. Taken together, our data suggest that EA2 mutants induce significant ER retention of their wild‐type counterparts, thereby suppressing the functional expression of CaV2.1 channels. J. Cell. Physiol. 214: 422–433, 2008. © 2007 Wiley‐Liss, Inc.
Ultrasound estimates of venous valve function in screening for insufficiency and following patients with chronic venous disease

Successful surgical reconstruction of venous insufficiency requires precise localization of incompetent valves and accurate assessment of the severity of valvular reflux [17]. Complete evaluation includes assessment of the superficial, deep, and perforating veins [1,16,25,27]. Duplex ultrasonography is an attractive modality in the assessment of venous insufficiency, as it is noninvasive, inexpensive, readily available and easily repeatable. However, there is no clear consensus on the diagnostic criteria for venous insufficiency. Reflux duration or valve closure time (VCT), has become the most widely used test after it was shown to clearly discriminate between the veins of healthy volunteers and the veins of patients with venous insufficiency [27]. However, various authors cite different values for the VCT to be considered abnormal [7-8,14-15,24-25]. In addition, there is not a good correlation between VCT and clinical severity of venous disease [7,12,22]. The reflux/augmentation ratio, or reflux volume index (RVI), has been shown to be reliable in experimental [3] and clinical settings [2,10-11,20]. The RVI has also been found to correlate well with clinical outcome in patients after venous valvuloplasty [18-19]. However, a correlation between RVI and clinical class of the extremity has not been reported. Longitudinal reliability of a diagnostic test is important if that test is to be used to follow progression of a chronic process or to assess response to therapeutic intervention. Few studies have assessed the reliability of VCT and RVI [3,9,18,21,26], and none have analyzed the repeatability of VCT and RVI over substantial intervals of time. This study was designed to compare VCT and RVI in regard to: 1. accuracy in diagnosis of venous insufficiency of the lower extremity; 2. correlation to clinical class of
Adaptive stabilization of infinite-dimensional semilinear second-order systems

In this paper adaptive stabilization of infinite-dimensional undamped semilinear secondorder systems is considered in the case of the input and output operators being collocated. The adaptive stabilizer is constructed by the concept of high-gain output feedback. An energy-like function and a multiplier function are introduced and adaptive stabilization of the semilinear second-order systems is analysed. The theories are applied to a nonlinear string system and the sine-Gordon system.
Pattern of genes influenced by conditional expression of the transcription factors HNF6, HNF4α and HNF1β in a pancreatic β-cell line

: Using the rat insulinoma cell line INS-1 we generated beta-cell clones that are most efficient for gene transfer, as they contain an FRT site for Flp recombinase-mediated, site-directed integration of a single copy transgene. Therefore, the gene-of-interest can be introduced by DNA transfection without the need to select individual cell clones. Additionally, the clones contain the tetracycline repressor allowing tetracycline induction of the transgene. By oligonucleotide microarray we define the beta-cell specific phenotype of the Flp-In T-REx cell clones. Using a clone expressing the HNF6, HNF4alpha and HNF1beta transcription factors at a limited level, we introduced the expression vectors encoding these factors. We show efficient tetracycline induction of these transcription factors by western blots and immunocytochemistry. Microarrays reveal that these three factors affect a similar number of genes with only few genes regulated in common. Statistical analysis reveals that the three transcription factors affect genes categorized to different biological processes. Furthermore, we document the usefulness of these Flp-In T-REx cells for the functional analysis of mutated HNF1beta transcription factors found in human MODY5 patients. We show that the expression of the mutant P328L329del and A263insGG affects only very few transcripts and these are predominantly distinct from those induced by wild-type HNF1beta.
Birth spacing and infant and early childhood mortality in a high fertility area of Bangladesh: age-dependent and interactive effects

Summary To examine the effects of birth spacing on early childhood mortality, 3729 singleton births in 1983–84 were followed for 3 years in rural Bangladesh. Logistic regression analyses were used to assess whether the survival of older siblings modifies the effect of preceding birth intervals and to see if the effects of preceding and succeeding birth intervals are inter-related, controlling for the effects of sex of the child, mother's age and household economic status. With the exception of the neonatal period, birth spacing effects were highly significant. A preceding birth interval of <15 months was associated with a greater mortality risk in the post-neonatal period for children with an older sibling who survived infancy. However, a short preceding birth interval did not adversely affect post-neonatal mortality if the older sibling died in infancy. Neonatal and post-neonatal deaths were higher if older siblings had died in respective age intervals. A pregnancy interval of <12 months after childbirth raised the risk of death at ages 1–2 years considerably if the child was born after a short birth interval (<15 months). The results suggest that the high mortality risks of closely spaced children are due to sibling competition for parental resources.
The evidence linking maternal nutrition and prematurity

Abstract Maternal nutrition may be one of the most important under-evaluated factors contributing to the contemporary rise in prematurity in the United States and other industrialized nations around the world. Slowed fetal growth has been repeatedly shown to be associated with preterm birth, in both singleton and twin pregnancies. Antecedents of impaired fetal growth include a wide variety of factors, including intergenerational effects, biological and social factors related to race and ethnicity, maternal pregravid weight and gestational weight gain, and iron and mineral status. An assessment of maternal nutritional status, including anthropometric factors, is an integral component of effective prenatal care, and may facilitate a reduction in prematurity.
Stability analysis of near-limit stretched premixed flames

The dynamics of radiative, near-limit, stretched premixed flames was investigated analytically and numerically, with emphasis on pulsating stability for sub-unity Lewis numbers. The analysis includes both flame stretch and order-unity heat loss, and yields a dispersion equation for the stability of radiative stretched flames subjected to symmetrical and asymmetrical perturbations. The dispersion equation reduces to that of the classical thermo-diffusional stability analysis of Sivashinsky in the limit of small heat loss, small stretch rate, and infinite flame separation distance. Results show that sub-limit flames are stable near both radiation and stretch extinction limits, and that oscillation occurs only at moderate flame stretch rates. The unstable regime and the stability diagram were obtained. Numerical simulation with detailed chemical kinetics and transport models yielded results that are in good agreement with theory. The present work also provides a satisfactory explanation of the experimental results obtained in microgravity.
Assessing the Energy Expenditure of Elite Female Soccer Players: A Preliminary Study

Abstract Mara, JK, Thompson, KG, and Pumpa, KL. Assessing the energy expenditure of elite female soccer players: A preliminary study. J Strength Cond Res 29(10): 2780–2786, 2015—The aim of this study was to assess the total and exercise energy expenditure of elite female soccer players during a training week. Eight elite female soccer players wore SenseWear Mini Armbands (SWAs) for 7 consecutive days during the preseason phase of a national league competition. In addition, players wore 15-Hz GPSports tracking devices during 4 training sessions and a friendly game. Total energy expenditure, exercise energy expenditure, and training and game demands were collected from the SWA and GPSports devices. Mean daily energy expenditure for the game day, training days, and rest days were 12,242 kJ (SD = 603 kJ), 11,692 (SD = 274 kJ), and 9,516 (SD = 369 kJ), respectively, with significant differences shown between activities (p < 0.001, partial &eegr;2 = 0.357), as well as between individual days (p < 0.001, partial &eegr;2 = 0.517). Mean values for energy expenditure during the friendly game (mean = 2,695 kJ, SD = 301 kJ) and training sessions (mean = 2,538 kJ, SD = 316 kJ) were similar (p = 0.278, Cohen's d = 0.5). However, there were significant differences found between individual training sessions (p = 0.001–0.035). Total and exercise energy expenditure differs throughout the week in female soccer players. Nutritional intake should be adjusted accordingly to avoid energy imbalances for optimal performance and recovery.
3D printed alendronate-releasing poly(caprolactone) porous scaffolds enhance osteogenic differentiation and bone formation in rat tibial defects

The aim of this study was to evaluate the in vitro osteogenic effects and in vivo new bone formation of three-dimensional (3D) printed alendronate (Aln)-releasing poly(caprolactone) (PCL) (Aln/PCL) scaffolds in rat tibial defect models. 3D printed Aln/PCL scaffolds were fabricated via layer-by-layer deposition. The fabricated Aln/PCL scaffolds had high porosity and an interconnected pore structure and showed sustained Aln release. In vitro studies showed that MG-63 cells seeded on the Aln/PCL scaffolds displayed increased alkaline phosphatase (ALP) activity and calcium content in a dose-dependent manner when compared with cell cultures in PCL scaffolds. In addition, in vivo animal studies and histologic evaluation showed that Aln/PCL scaffolds implanted in a rat tibial defect model markedly increased new bone formation and mineralized bone tissues in a dose-dependent manner compared to PCL-only scaffolds. Our results show that 3D printed Aln/PCL scaffolds are promising templates for bone tissue engineering applications.
Cerebrospinal Fluid Rhinorrhea Secondary to Ecchordosis Physaliphora

Ecchordosis physaliphora is a rare hamartomatous lesion of notochord origin that is usually asymptomatic. In this case report, such a lesion arose at the clivus, with extension through to the sphenoid sinus. As a result, it presented with cerebrospinal fluid rhinorhea, making the case particularly unusual. We describe the treatment for this rare situation and discuss its differentiation from chordoma, its malignant counterpart.
Teaching and Learning Principles of Microeconomics Online: An Empirical Assessment

How do students enrolled in online courses perform relative to those who choose a more traditional classroom environment? What student characteristics help explain differences in student academic achievement in the two modes of instruction? What factors affect the students' choice of instruction mode? The authors address these questions in relation to the teaching of introductory economics courses. They find that the two groups of students are significantly different in age, gender composition, marital status and number of children, GPA, previous economics exposure, planned major, and other important characteristics. The raw data suggested a higher mean score for the online class sections. But after considering course selection bias, the findings indicated that age and GPA positively affect students' performance in the course, whereas the online teaching mode has a narrowly insignificant, or even negative, effect. Semester effects are most important for the online subsample, and male students enjoy a premium in the traditional classroom setting.
The Time is Now: The Need for an Intensive, Appropriate Individual Intervention for Individuals with Rett Syndrome

Rett syndrome (RTT) is a complex neurological disorder caused by an affected MECP-2 gene, primarily affecting females. In 2007, a reversal of typical clinical characteristics of MECP2 mice was performed successfully. The results suggest that similar reversals might be achieved in human patients with RTT in a foreseeable future. Nonetheless, this future cure will not be able to reverse already acquired disabilities and limitations, such as osteoporosis, muscle degeneration, orthopedic contractures, and functional loss attributed to a long sedentary life typical for this group of clients. Evidence suggests that many aspects of clients’ well-being and functional status depend on the therapeutic interventions they receive. Findings from diverse, intensive therapeutic programs implemented both with mice and individuals with RTT imply that such programs can enhance longevity, communications, learning, well-being, functional ability, and other life aspects characterizing this syndrome. The authors therefore urge that individuals with this syndrome should be treated with an intensive intervention programs from childhood to maintain their optimal functional performance and medical condition so that maximal gains will be achievable for those individuals with the availability of the forthcoming genetic cure.
Pain Disability Among Older Adults With Arthritis

Objective: The principal objective was to examine pain disability (the degree to which chronic pain interferes with daily activities) among older adults with arthritis. Specifically, answers to two research questions were sought: (a) Does psychological distress reliably predict pain disability; and (b) do certain theoretically important host, sociodemographic, and health-related factors reliably predict pain disability? Method: Descriptive, univariate, and multivariate regression analyses were employed to assess key psychosocial, disease, and host factors among the sample (N =141) of adults with arthritis, aged [UNKNOWN] 50 years old. Results: The resultant regression model accounted for 63.7% (60.0% adjusted) of the variance and was significant at p < . 01. Psychological distress, overall health, disease activity, and disease self-efficacy were found to predict pain disability. Discussion: Sample members with greater pain disability experienced heightened psychological distress, poorer perceptions of their overall health, more surgeries, higher unemployment, more intense disease activity, longer disease duration, and lower disease self-efficacy.
The Tetraspanin CD 63 / lamp 3 Cycles between Endocytic and Secretory Compartments in Human Endothelial Cells

*Department of Biochemistry, Sciences II, University of Geneva, 1211-Geneva-4, Switzerland; †Division of Clinical Biochemistry, Centre Médical Universitaire, 1211-Geneva-4, Switzerland; ‡Division of Angiology and Hemostasis, University Hospital Geneva, 1211-Geneva-4, Switzerland; and §Centre for Microscopy and Microanalysis, Department of Physiology and Pharmacology, and Centre for Molecular and Cellular Biology, University of Queensland, Queensland 4072, Australia
Beijing , China AXIAL LOAD FAILURE OF SHEAR CRITICAL COLUMNS SUBJECTED TO HIGH LEVELS OF AXIAL LOAD

This paper discusses the experimental behavior of two lightly reinforced (shear-critical) columns subjected to high levels of axial load and lateral load reversals. The two full-scale experiments were carried out at the NEES-MAST facility at the University of Minnesota as part of a large study on the risk of collapse of older concrete buildings during major earthquakes. The goal of the experiments was to obtain data to improve simulations of buildings in which partial collapse and redistribution of vertical loads between columns takes place. Tests evaluated the behavior of two columns with ratios of nominal shear strength to plastic shear demand on the order of 0.85. The longitudinal and transverse reinforcement ratios were maintained constant, while the axial load ratio of each column was 0.3 and 0.2 f’c Ag, respectively.
Weekly Gemcitabine, Paclitaxel, Oxaliplatin Combination Chemotherapy in Patients With Cisplatin-Refractory Germ Cell Tumor: Preliminary Experience

Although the overall cure rate for advanced germ cell tumor (GCT) is high, the prognosis for patients with cisplatin-refractory GCT remains poor. Gemcitabine, paclitaxel, and oxaliplatin have shown significant activity as single agents in these patients. We investigated the activity and tolerance of a weekly gemcitabine, paclitaxel, oxaliplatin chemotherapy regimen. From September 2000 to February 2002, 9 patients with cisplatin-refractory GCT were treated with gemcitabine 800 mg/m2, paclitaxel 70 mg/m2, and oxaliplatin 50 mg/m2, days 1, 8, and 15, every 4 weeks. Only 1 patient stayed on schedule. In 7 patients, chemotherapy treatment was modified due to grade 3–4 hematological toxicity, whereas in another patient, who received high-dose chemotherapy 2 months before, chemotherapy was administered biweekly. In total, 21 cycles were administered with a median of 2 cycles for each patient. One patient achieved a partial remission lasting 5 months, 1 had disease stabilization for 5 months, whereas 7 had progressive disease. This chemotherapy regimen was not feasible in our patient population. Recently, oxaliplatin at full doses, but not as weekly administration, has appeared to possess activity in cisplatin-refractory GCT. Thus, we plan a phase II study protocol of the oxaliplatin and gemcitabine combination at full doses every 3 weeks.
Direct measurement of the dispersion relation of capillary waves by laser interferometry

Surface waves on fluids with wavelengths in the millimeter range are known as capillary waves. Surface tension determines the propagation and dispersion of capillary waves while gravity plays a minor role. We describe a simple method for generating standing capillary waves of known frequency on water and introduce a novel noncontact technique based on laser interferometry to measure the wavelength of capillary waves with great precision. The data gives the dispersion relation of capillary waves and provides an accurate method for determining the surface tension of fluids.
Further results on mixed-delay-dependent robust stability for uncertain linear neutral systems

This paper considers the mixed-delay-dependent robust stability for uncertain linear neutral systems with mixed delays. By using Lyapunov-Krasovskii(L-K) approach, and incorporating Wirtinger inequality and the relationship between neutral delay and discrete delay, the further stability and robust stability conditions are obtained in terms of linear matrix inequalities (LMIs). Compared with some existing results, the proposed conditions in this paper contain some fewer variables, and meanwhile remain less conservative. Numerical example illustrates the benefits of the proposed conditions in this paper.
Cumulative incidence of Kawasaki disease in Japan

Although the incidence rates of Kawasaki disease (KD) in Japan have been determined in nationwide surveys, the cumulative incidence, that is, the proportion of those with a history of KD in the general population of 10‐year‐olds, is currently unknown. The aim of this study was therefore to assess the cumulative incidence of KD in Japan.
Much to be desired in self-management of patients with adrenal insufficiency.

We assessed self-management in patients with adrenal insufficiency and patient-related factors that affect self-management. A self-report questionnaire was developed to assess self-management. The questionnaire contained three main topics, including: (i) medication adherence; (ii) anticipated measures; and (iii) dose adaptation during medical emergencies. Sixty per cent of the patients (n = 116) completed the questionnaire. The score for the medication adherence was 3.5 out of 4. The score for anticipated measures was 3.4 out of 5, and dose adaptation during medical emergencies was 1.9 out of 3. Older age was a positive predictor for all three self-management topics. The female sex was a positive predictor for anticipated measures and dose adaptation during medical emergencies. High education level was associated with higher scores on dose adaptation during medical emergencies in women, not in men. Education level did not affect other self-management aspects. There seems to be a need to improve self-management in these patients. Self-management might be improved by continuous education, and involvement of endocrine nurses and nurse practitioners is likely to be a key factor in the effectiveness of patient education.
Preventing running injuries. Practical approach for family doctors.

OBJECTIVE To present a practical approach for preventing running injuries. QUALITY OF EVIDENCE Much of the research on running injuries is in the form of expert opinion and comparison trials. Recent systematic reviews have summarized research in orthotics, stretching before running, and interventions to prevent soft tissue injuries. MAIN MESSAGE The most common factors implicated in running injuries are errors in training methods, inappropriate training surfaces and running shoes, malalignment of the leg, and muscle weakness and inflexibility. Runners can reduce risk of injury by using established training programs that gradually increase distance or time of running and provide appropriate rest. Orthoses and heel lifts can correct malalignments of the leg. Running shoes appropriate for runners' foot types should be selected. Lower-extremity strength and flexibility programs should be added to training. Select appropriate surfaces for training and introduce changes gradually. CONCLUSION Prevention addresses factors proven to cause running injuries. Unfortunately, injury is often the first sign of fault in running programs, so patients should be taught to recognize early symptoms of injury.
Contraction times of twitches evoked by H-reflexes.

Isometric twitches of the same amplitude were initiated in the human soleus muscle by near threshold H-reflexes and by stimuli to the efferent nerve (M-responses) or to the end-plate zone. The time to peak-force was longer in reflex than in directly activated twitches: The range was 84 to 130 msec and 52 to 100 msec, respectively (36–37°C).