Miracle-dz/UniFAR-FTUs huggingface dataset:
Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor

We report and functionally characterize five new mutations of the acetylcholine receptor (AChR) in 11 Turkish patients with recessive congenital myasthenic syndromes (CMS)s belonging to six families. All mutations are in the ε‐subunit gene. Parental consanguinity is present in three families. The disease cosegregates with homozygous mutations in five families and with two different heteroallelic mutations in one family. Four mutations are frameshifting, predicting truncation of the ε subunit, and one occurs at a splice donor site. Expression of each frameshifting mutation and the likely transcripts of the splice‐site mutation in human embryonic kidney 293 cells shows that each mutation is a null mutation. The findings support the notion that loss‐of7hyphen;function mutations of the acetylcholine receptor causing CMS are concentrated in the ε subunit, and that such mutations are a frequent cause of CMS.
Governmental power in elite sport networks: a resource-dependency perspective

ABSTRACT Research question: The contemporary elite sport policy arena is highly complicated with a plethora of stakeholders relying on each other to reach their shared goal of international sporting success. Interactions among stakeholders have a large impact on outcomes. Therefore, these interactions are crucial to analyze when examining elite sport policy implementation. This study draws from network theory and resource-dependency theory to gain an understanding of the governance of elite sport networks by analyzing the impact of resource dependency and power dispersion on two collaborative processes, decision-making and coordination. Research methods: An empirical qualitative study was conducted within the Flemish sport context. Data were collected through document analysis and semi-structured interviews with 64 respondents. Results and findings: Decision-making in the elite sport network was mainly influenced by the large power ascendancy of the government agency. Coordination was streamlined through clear administrative procedures to overcome distrust. However, coordination issues were often the result of power plays between network partners. Some interesting instruments were revealed that enhanced legitimacy and trust in the network; namely, leveraging expertise and knowledge; engaging in collaborative goal setting; establishing a task force; and engaging in co-optation tactics. Implementation: This research adds to the collaborative network literature by explicitly linking perceptions of power and resource-dependency to the decision-making and coordination processes. The results contribute to research on elite sport by bringing insights into the relationships among resource-dependency, power, decision-making and coordination; and into the usefulness of the instruments to handle potential pitfalls inherent to these relationships.
Monitoring of TiO$_{\bf 2}$ and ZnO Nanoparticle Penetration Into Enamel and Dentine of Human Tooth IN VITRO and Assessment of Their Photocatalytic Ability

Penetration of nanoparticles into tooth enamel and dentine is of significant interest upon solving problems related to reduction of tooth sensitivity, enamel strengthening, disinfection, restoration as well as cosmetic bleaching. This paper aims at studying the process of nanoparticle penetration into tooth enamel and dentine samples using nonlinear optical microscopy and at investigating the influence of the same nanoparticles on the generation of free radicals using the electronic paramagnetic resonance technique. We presented in vitro measurements demonstrating that nonlinear optical microscopy, namely, two-photon-excited autofluorescence, second harmonic generation, and hyper-Rayleigh scattering-based microscopy can be used for monitoring and imaging TiO2 and ZnO nanoparticle penetration into tooth tissues. The results indicate that ZnO nanoparticles penetrated into the human tooth enamel and dentine up to a depth of 12 and 45 μm, respectively, and TiO2 nanoparticles penetrated into dentine to a depth of 5 μm. The penetration mainly occurs along either enamel rods or dentinal tubules. Permeability of the dentine was found to be higher than that of enamel (for ZnO particles) by one order of magnitude and the diffusion rate was affected by the particle size being higher for smaller, submicron particles (ZnO) than for micron-sized aggregates (TiO2). Nitrogen-doped TiO2 nanoparticles generate more radicals in the UV-VIS spectral range in comparison to pristine TiO2 (anatase) and ZnO nanoparticles, therefore, they can potentially be used for disinfection purposes of superficial tooth areas (up to 5-μm deep).
Dietary K 1 restriction upregulates total and Sch-28080-sensitive bicarbonate absorption in rat tIMCD

Wall, Susan M. , Pramod Mehta, and Thomas D. DuBose, Jr. Dietary K1 restriction upregulates total and Sch28080-sensitive bicarbonate absorption in rat tIMCD. Am. J. Physiol. 275 (Renal Physiol. 44): F543–F549, 1998. —In tubules from the terminal segment of the inner medullary collecting duct (tIMCD) from rats with chronic metabolic acidosis, our laboratory has shown that bicarbonate absorption (JtCO2) is inhibited by removal of K1 from the luminal fluid or by the addition of Sch-28080 to the perfusate. The present study asked whether total and/or Sch-28080-sensitive JtCO2 is regulated by changes in systemic K1 homeostasis. Rat tIMCD tubules were perfused in vitro in symmetrical, HCO3 /CO2-buffered solutions containing 10 mM KCl 1 6 mM NH4Cl. Total and Sch-28080-sensitive JtCO2 were measured in rats with varying K1 intake. In K1-replete rats, baseline JtCO2 was 2.1 6 0.3 pmol ·mm21 ·min21 (n 5 6). In rats fed a K1-deficient diet for 3 days, JtCO2 was 5.4 6 0.7 pmol ·mm21 ·min21 (n 5 16, P , 0.05). To determine the mechanism for the increase in HCO3 2 absorption observed with K1 restriction, the Sch-28080-sensitive component of JtCO2 was measured in each treatment group. Following the addition of Sch-28080 (10 μM) to the perfusate, a 40% reduction in JtCO2 was observed in K1-restricted rats. JtCO2 was not reduced following the addition of Sch-28080 in rats with normal K1 intake. Because Sch-28080-sensitive JtCO2 was increased in K1-restricted rats, Sch-28080-sensitive JtCO2 was studied further in tIMCD tubules from rats in this treatment group. In K1-restricted rats, JtCO2 decreased by 20% following the addition of 5 mM ouabain to the perfusate. This ouabain-induced decline in JtCO2 was observed both in the presence and in the absence of Sch-28080. We conclude that total and Sch-28080-sensitive net acid secretion is increased with dietary K1 restriction. However, since ,50% of JtCO2 is insensitive to both Sch-28080 and ouabain, future studies will be necessary to define other mechanisms of luminal acidification in the rat tIMCD.
T-2 toxin induces thymic apoptosis in vivo in mice.

A single intraperitoneal injection of T-2 toxin (0.35, 1.75, or 3.5 mg/kg body wt) induced time- and dose-dependent thymic atrophy in young female BALB/c mice. T-2 toxin (1.75 mg/kg) induced maximal atrophy by day 3 with complete recovery by day 7. Flow cytometric analysis showed that the CD4(+)CD8(+) double positive thymocyte population decreased markedly. Histopathological examination of the thymus indicated that the pattern of cell death in the thymocytes had a characteristic apoptotic morphology with cell shrinkage and nuclear condensation. The in vivo effects of T-2 toxin included the induction of DNA fragmentation of approximately 200 base pairs in ladder form and cell death in thymocytes. Furthermore, flow cytometric analysis of PI-stained thymocytes from animals dosed with T-2 toxin revealed the formation of apoptotic cells. Of nine kinds of trichothecene mycotoxins tested, T-2 toxin appeared to be the most potent agent to induce apoptosis in the thymus. We sought insight into the mechanism of T-2 toxin-induced apoptosis in vivo. Administration of the protein synthesis inhibitor, CHX (15 mg/kg ip), 5 min after T-2 toxin (1.75 mg/kg ip) inhibited the induction of apoptosis in thymocytes, suggesting that the de novo protein synthesis was necessary. By using adrenalectomized mice and anti-TNF-alpha antibody-injected mice, it was shown that neither endogenous glucocorticoid nor TNF-alpha appeared to be involved in the apoptotic process. Taken together, these findings suggest that T-2 toxin-induced thymic atrophy is associated with cell death through a mechanism of apoptosis.
Elevational patterns of genetic variation in the cosmopolitan moss Bryum argenteum (Bryaceae).

UNLABELLED PREMISE OF THE STUDY The Baas Becking tenet posits that 'everything is everywhere, but the environment selects' to explain cosmopolitan distributions in highly vagile taxa. Bryophyte species show wider distributions than vascular plants and include examples of truly cosmopolitan ranges, which have been interpreted as a result of high dispersal capacities and ecological plasticity. In the current study, we documented patterns of genetic structure and diversity in the cosmopolitan moss Bryum argenteum along an elevational gradient to determine if genetic diversity and structure is homogenized by intense migrations in the lack of ecological differentiation. • METHODS 60 specimens were collected in the Sierra Nevada Mountains (Spain) between 100 and 2870 m and sequenced for ITS and rps4. Comparative analyses, genetic diversity estimators, and Mantel's tests were employed to determine the relationship between genetic variation, elevation, and geographic distance and to look for signs of demographic shifts. • KEY RESULTS Genetic diversity peaked above 1900 m and no signs of demographic shifts were detected at any elevation. There was a strong phylogenetic component in elevational variation. Genetic variation was significantly correlated with elevation, but not with geographic distance. • CONCLUSIONS The results point to the long-term persistence of Bryum argenteum in a range that was glaciated during the Late Pleistocene. Evidence for an environmentally driven pattern of genetic differentiation suggests adaptive divergence. This supports the Baas Becking tenet and indicates that ecological specialization might play a key role in explaining patterns of genetic structure in cosmopolitan mosses.
Comparison of five tests for the detection of antibodies against chlamydial (enzootic) abortion of ewes

Five tests for antibodies against chiamydial (enzootic) abortion of ewes were compared using 255 sera from experimentally (group 1) or naturally (group 2) infected animals, flocks free of the disease (group 3) and individual animals testing positively by the complement fixation test but from flocks with no evidence of chlamydial abortion (group 4). Sera from five specific pathogen-free lambs vaccinated with two different subtypes of Chlamydia pecorum were also included (group 5). All tests used some form of processed culture of C psittaci as antigen. Specificities, established with groups 3 and 4 sera, ranged between 96 per cent (ELISA using lipopolysaccharide antigen) and 59 per cent (Immunocomb). Reactions with group 5 sera suggested that the cause of false positive results in the field might be cross-reactive antibodies against the arthritogenic subtype of C pecorum. Sensitivities, established with groups 1 and 2 sera, ranged bewteen 81 per cent (Immunocomb) and 51 per cent (ELISA using solubilised protein antigen). The minimum sample sizes required to be 95 per cent certain of detecting at least five seropositives in two infected flocks (combined data) were 15 to 48, dependent on the test applied. The Western blot test, applied to a proportion of samples, yielded no false positives with group 3 sera but 31P7 per cent with group 4 sera. Thus, none of the tests in this comparison emerged as sufficiently satisfactory in all respects, suggesting that further improvements in chlamydial serology must come through the use of non-native antigens or in the form of a competitive ELISA.
Operative management of acoustic neuromas: The priority of neurologic function over complete resection

The objective of surgical management of acoustic tumors is to remove them entirely and preserve facial nerve function and hearing when possible. A dilemma arises when it is not possible to remove the entire tumor without incurring additional neurologic deficits. Twenty patients who underwent intentional incomplete surgical removal of an acoustic neuroma to avoid further neurologic deficit were retrospectively reviewed. They were divided into a subtotal group (resection of less than 95% of tumor) and a near-total group (resection of 95% or more of tumor) and were followed yearly with either computed tomography or magnetic resonance imaging. The subtotal group was planned and consisted of elderly patients (mean age, 68.5 years) with large tumors (mean, 3.1 cm). The near-total group consisted of younger patients (mean age, 45.8 years) and smaller tumors (mean, 2.3 cm). The mean length of followup for all patients was 5.0 years. Ninety percent of patients had House grade I or II facial function post-operatively. Radiologically detectable tumor regrowth occurred in only one patient, who was in the subtotal resection group. Near-total resection of acoustic tumor was not associated with radiologic evidence of regrowth of tumor for the period of observation. Within the limits of the follow-up period of this study, subtotal resection of acoustic neuroma in elderly patients was not associated with clinically significant recurrence in most patients and produced highly satisfactory rates of facial preservation with low surgical morbidity.
Effect of acidified enteral feedings on gastric colonization in the critically ill patient

ObjectiveTo evaluate the effect of acidified enteral nutritional formulas (feedings) on gastric colonization and pH in critically ill patients. DesignRandomized, double-blind trial of three groups: a) regular feedings into the stomach; b) regular feedings into the duodenum; and c) acidified feedings into the stomach. Nasogastric aspirates for gastric pH and microbiological determinations were obtained daily for a mean of 5 days after feeding began. SettingICU at a tertiary care hospital. PatientsThirty-one patients indicated to receive enteral feedings before day 4 in the ICU were randomized. Seven patients had their feedings discontinued because of intolerance, accidental extubation, or tolerance of oral supplementation. One patient received the wrong feedings and was dropped from the study. A total of 23 patients finished the study. They were mostly trauma (n = 15) or neurosurgical (n = 6) patients. The average age was 40 yrs (range 15 to 71). InterventionsAn enteral formula with a pH of 6.5 was used as the control feeding. Hydrochloric acid was added to the control feeding to titrate the pH to 3.5 and this acidified enteral formula was given to the experimental group. All patients received continuous enteral feedings via an 8-Fr feeding tube. Main ResultsSeven of eight patients receiving the acidified feedings were sterile (no microbial growth) on receiving feedings compared with five of 15 of those patients receiving regular feedings (p = .027). For those patients initially colonized, four of four patients receiving acidified feedings immediately became sterile and remained so. Only two of ten patients receiving regular feedings remained sterile (p = .021). The mean gastric pH of the acidified group was 3.2 compared with the group receiving regular feedings into the stomach (pH = 4.7) and the group receiving regular feedings into the duodenum (pH = 3.8) (p < .01). There was no evidence of gastrointestinal bleeding in any patient. ConclusionsAcidified enteral feedings are effective in eliminating and preventing gastric colonization in critically ill patients. Further investigation is needed to assess its effect on nosocomial infection rates.
Plasma amino acid responses after consumption of beverages with varying protein type.

PURPOSE To examine how different proteins in a carbohydrate-protein beverage affect postprandial amino acid (AA), glucose, and insulin responses. METHODS Two randomized, repeated-measures experiments were performed. In one, 10 volunteers drank 3 carbohydrate-protein beverages (380 kcal, 76 g carbohydrate, 19 g protein, 2 g fat) in separate (>7 days) trials, each differing in protein type. All drinks consisted of cocoa (4 g) and nonfat dry milk (1 g) supplemented with casein (CAS), whey (WP), or a casein and whey blend (CAS-WP). Ten additional volunteers consumed the same drinks after 60 min of varying-intensity exercise (60% and 85% VO2peak). Blood glucose, insulin, glucose-dependent insulinotrophic polypeptide (GIP), and AAs were measured every 15-30 min for 4 hr after beverage consumption. RESULTS Branched-chain AA concentrations peaked at 30 min and did not differ between beverages at rest (0.69 +/- 0.12 mmol/L) or postexercise (0.70 +/- 0.07 mmol/L). There were no significant differences between beverages with respect to initial (time 0-60) or total area under the curve (time 0-240) for any outcome measures at rest or postexercise. CONCLUSION High-carbohydrate beverages containing various proportions of milk proteins procured from a supplier to the commercial industry had no impact on AA concentration. Retrospective chemical analysis of commercial proteins showed that casein was partially hydrolyzed; therefore, consumers should carefully consider the manufacturer (to ensure that the product contains intact protein) or other factors (i.e., cost or taste) when procuring these beverages for their purported physiological effects.
Comorbidities in Adult Attention-Deficit/Hyperactivity Disorder: A Practical Guide to Diagnosis in Primary Care

Abstract Diagnosis and management of attention-deficit/hyperactivity disorder (ADHD) in adults is complex and challenging because of the frequent comorbidity of other psychiatric disorders that have symptoms overlapping with those of ADHD. The presence of comorbidities can create challenges to making an accurate diagnosis and also impact treatment options and outcomes. This review discusses disorders that may be comorbid with ADHD in adults, including anxiety, mood, substance use disorder, antisocial personality disorder, and borderline personality disorder. Suggestions for recognizing these comorbidities and distinguishing them from ADHD and perspectives on their possible impact on ADHD treatment are included. Adjunctive nonpharmacologic modalities may be especially helpful in the case of comorbid mood, anxiety, substance abuse, or personality disorders.
Paradoxes of Innovation in French Digital Comics

The word ‘innovative’ and its lexical field of novelty are often used to market digital comics. This obsession with everything new implies a specific link to the past. Anything which breaks with prior methods or forms of graphic creation becomes innovative. However, the formal evolution of French digital comics does not match with this linear pattern of innovation. This paper presents an analysis of the idea of innovation in relation to the long-term history of French digital comics creation. Whilst the technical means of graphic creation have improved since the 1980s, does that necessarily mean that the form and aesthetics of digital comics have evolved simultaneously? What is the role played by traditional printed comics in the aesthetic evolution of digital comics? Starting with the 1990s, it is not the potentiality but the reality of technological innovation that we will try to understand through time.
What Matters in Disclosures of Key Audit Matters: Evidence from Europe

New regulation in the European Union has introduced the mandatory disclosure of key audit matters (KAMs) to audit reports. The EU has identified KAMs as significant risks, significant transactions or events, or significant judgments by auditors. This paper aims to determine the factors that influence the number of KAMs that auditors disclose in the main European countries under the new regulation. We predict that the litigation risk, reputation loss, auditor–client relationship, precision of accounting standards, and the effect of regulators and supervisors’ activities affect the number of KAMs that auditors disclose. The sample consists of firms on the FTSE 100, CAC 40, or AEX 25 that have disclosed KAMs at the 2016 fiscal year‐end. In line with our hypotheses, the findings show that a higher number of business segments (complexity) and more precise accounting standards lead to the disclosure of a higher number of KAMs. Contrary to our expectations, the results indicate that a positive association exists between the audit fee and the number of KAMs disclosed. As audit fees can be related to higher client risk, this finding could indicate that litigation risk dominates any auditor–client dependence. Further, although auditors often view their audits of banks as complex, the findings show a negative association between banks and the number of disclosed KAMs. This evidence may be related to the fact that financial institutions are in a highly regulated and supervised industry that reduces the need to disclose the KAMs.
Beta‐adrenergic stimulation of renin expression in vivo

Objective To characterize the effect of β-adrenergic activation on renal production of renin in the intact organism. Design and Methods Renal expression of renin [renin messenger RNA (mRNA)], plasma renin activity (PRA), inactive renin level, intrarenal renin distribution (immunohistochemistry), and the time course of activation of renin as well as hemodynamic parameters were determined during the subcutaneous infusion of isoproterenol (ISO) into rats. To examine whether β-adrenergic activation of the renin system is modulated by the rate of salt intake rats were fed diets with normal, low and high salt contents. Results Systolic blood pressure was not altered. PRA was elevated as much as fourfold after 40 h of ISO infusion. Although renal renin mRNA levels were elevated dose-dependently up to 4.2-fold, no significant recruitment of renin-containing cells could be detected. The time course of PRA revealed a marked transient rise of PRA during 6 h of ISO infusion with a subsequent decline. Inactive renin level was elevated during 3 to 18 h of ISO infusion. In contrast, renin mRNA level increased steadily with a lag phase of 3 h. Infusion of ISO increased PRA and renin mRNA level under a high-salt diet, but had no additional effect either on PRA or on renin mRNA level under low-salt diet. Conclusion Activation of b-adrenergic receptors is a powerful stimulus of renin secretion and renin gene expression in juxtaglomerular cells in vivo, albeit the kinetics of upregulation of renin secretion and renin expression are markedly different. Therefore, the sympathetic tone might be a major factor determining the activity of the renin system in vivo. The ability of adrenergic agonists to stimulate the renin system appears to be modulated by the steady-state level of salt intake.