Miracle-dz/UniFAR-FTUs huggingface dataset:
Loss‐of‐function mutations of SURF‐1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency

Mutations of SURF‐1, a gene located on chromosome 9q34, have recently been identified in patients affected by Leigh syndrome (LS), associated with deficiency of cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain. To investigate to what extent SURF‐1 is responsible for human disorders because of COX deficiency, we undertook sequence analysis of the SURF‐1 gene in 46 unrelated patients. We analyzed 24 COX‐defective patients classified as having typical Leigh syndrome (LSCOX), 6 patients classified as Leigh‐like (LLCOX) cases, and 16 patients classified as non‐LSCOX cases. Frameshift, stop, and splice mutations of SURF‐1 were detected in 18 of 24 (75%) of the LSCOX cases. No mutations were found in the LLCOX and non‐LSCOX group of patients. Rescue of the COX phenotype was observed in transfected cells from patients harboring SURF‐1 mutations, but not in transfected cell lines from 2 patients in whom no mutations were detected by sequence analysis. Loss of function of SURF‐1 protein is specifically associated with LSCOX, although a proportion of LSCOX cases must be the result of abnormalities in genes other than SURF‐1. SURF‐1 is the first nuclear gene to be consistently mutated in a major category of respiratory chain defects. DNA analysis can now be used to accurately diagnose LSCOX, a common subtype of Leigh syndrome. Ann Neurol 1999;46:161–166
Variabilité de la zone de minimum d’oxygène du Pacifique Est équatorial au cours du Quaternaire récent

Cette these a pour objectif de documenter les variations spatiotemporelles de la zone de minimum d’oxygene (OMZ) du Pacifique Nord-Est, et d’identifier les mecanismes qui ont cause ces variations. L’etude est fondee sur l’analyse geochimique des composants majeurs, mineurs et traces de sediments preleves dans le Pacifique Nord-Est, en combinant des mesures par ICP-MS et scanneur XRF. Ces mesures ont permis de distinguer l’effet de la productivite biologique de celui de la ventilation oceanique sur l’oxygenation du sediment. J’ai pu mettre en evidence le role preponderant de la productivite au niveau de la Basse Californie (23°N), qui varie en phase avec les temperatures en Atlantique Nord durant les 120.000 dernieres annees. Par ailleurs, la ventilation oceanique a probablement joue un role important au niveau du golfe de Papagayo (12°N), par l’advection de masses d’eau provenant des hautes latitudes nord et sud. L’intensite de l’OMZ du Pacifique Nord-Est serait donc influencee par des modifications des circulations oceaniques et atmospheriques, liees aux climats des hautes latitudes des deux hemispheres.
The status of dental caries and related factors in a sample of Iranian adolescents.

OBJECTIVE To describe the status of dental caries in a sample of Iranian adolescents aged 14 to 18 years in Qazvin, and to identify caries-related factors affecting this group. STUDY DESIGN Qazvin was divided into three zones according to socio-economic status. The sampling procedure used was a stratified cluster sampling technique; incorporating 3 stratified zones, for each of which a cluster of school children were recruited from randomly selected high schools. The adolescents agreed to participate in the study and to complete a questionnaire. Dental caries status was assessed in terms of decayed teeth (DT), filled teeth (FT) and decayed, missing and filled teeth (DMFT). A multivariate regression analysis was used to determine statistically significant associations between DMFT and other variables. RESULTS The study sample comprised 380 adolescents, 188 (49.5%) being male. The mean age of the adolescents was 15.42 (SD= 1.1) years, and the mean DMFT was 2.61 (SD=1.89). Boys had significantly higher DMFT scores than girls (P <0.05). The multivariate regression analyses revealed a significant relation between high DMFT scores and such variables as increasing age, male gender, lower levels of parental education, higher family income, lower frequency of tooth brushing and dental flossing, having a history of no visits to the dentist, and bad perception of own oral health. CONCLUSIONS The present study reveals that Iranian adolescents have a poor oral hygiene, as very few subjects brush and floss their teeth on a regular basis. Although the incidence of caries was found to be moderate, it was influenced by demographic factors such as age and gender in addition to socio-behavioral variables such as family income, the level of education attained by parents, the frequency of dental brushing and flossing, and both the frequency and type of visit to a dentist.
Pregnancy outcome after oocyte donation in patients with Turner's syndrome and partial X monosomy.

BACKGROUND Fertility expectations for patients with Turner's syndrome (TS) have clearly changed in the last three decades. However, medical risks during pregnancy are supposed to be highly increased. The aim of the study was to assess clinical outcome and obstetrical complications in a series of patients with TS in an oocyte donor programme. METHODS A retrospective study was carried out on 24 women with TS seeking a pregnancy in the Fertility Clinic of the Erasme Hospital from 1992 up until March 2011. RESULTS Twenty-three patients with TS were included in an oocyte donation cycle. Forty-nine oocyte donation cycles were performed, which led to 45 fresh and 10 frozen-thawed embryo transfers. Altogether, 18 pregnancies were obtained, 10 deliveries (9 singletons and 1 pair of twins), 3 miscarriages and 5 biochemical pregnancies. The clinical pregnancy rate per transfer was 24.4% in fresh cycles and 20% in frozen replacement cycles. Complications of pregnancy occurred in 5 of 10 pregnancies (50%), which led to three premature deliveries because of pregnancy-induced hypertensive disorders. The mean birthweight (g) (±SD) for singletons and twins was 2728 ± 577 and 2335 ± 318, respectively. Four babies were below the 10th percentile. No cardiac complications were observed in any of the pregnant women. CONCLUSIONS Pregnancy rates after oocyte donation in patients with TS are comparable with those previously published but a high risk of pregnancy hypertensive disorders and a high risk of low birthweight can be highlighted from our study. Strict inclusion criteria and single embryo transfer are necessary to minimize complications during pregnancy in this high-risk group.
Distance to Thrombus in Acute Middle Cerebral Artery Occlusion: A Predictor of Outcome After Intravenous Thrombolysis for Acute Ischemic Stroke

Background and Purpose— In patients with acute middle cerebral artery (MCA) stroke, therapeutic decisions are influenced by the location of the occlusion. This study aimed to analyze clinical outcomes in patients with acute ischemic MCA stroke treated with systemic intravenous thrombolysis (IVT) using recombinant tissue plasminogen activator, according to the location of the occlusion. Methods— Of 621 patients screened, 136 with acute stroke and MCA occlusion confirmed by CT angiography were retrospectively included in this study. The distance from the carotid T to the thrombus (DT) on coronal maximum intensity projection images and the thrombus length were measured. The correlation between DT and the modified Rankin Scale score at 90 days was analyzed. Results— DT was an independent predictor of clinical outcome in stroke patients treated with IVT. A long DT was significantly correlated with a good clinical outcome (modified Rankin Scale score at 90 days ⩽2). A poor clinical outcome was exponentially more likely than a good outcome when the DT was <16 mm (P<0.001). The thrombus length was not correlated with the modified Rankin Scale score at 90 days. A long thrombus (>8 mm) occurred significantly more often in the proximal MCA than the distal MCA (P<0.001). Conclusion— DT is an independent predictor of clinical outcome in patients with acute MCA occlusion treated with IVT. In acute stroke with MCA occlusion confirmed by CT angiography and DT <16 mm, the likelihood of a good clinical outcome after treatment with IVT was exponentially <50%. This might warrant the evaluation of other therapy forms than IVT in patients with proximal MCA occlusion.
Examining Dual-Moderation of Structure Racism, Economic Fragility, High Tech Startup’s Team Diversity and Performance

This study has been conducted to examine the dual moderation of structural racism and economic fragility between team diversity and startup team performance. Team diversity is particularly important for new ventures or startups as the need or focus of such startups is on a diverse range of consumers. The role of racism and economic fragility cannot be ignored in this regard. To conduct this research the targeted population is the high-tech startups in France. For data collection, 351 questionnaires were received and processed for data analysis. The results indicated a significant impact of team diversity on startup team performance. The moderating role of structural racism was also significant between team diversity and startup team performance. Whereas, economic fragility also significantly moderates the relationship between team diversity and startup team performance. The practical importance of this study is greatly implied in those startups which incorporate diversity in their workplace. The policymakers are also devoted to performing their part concerning the policies that are being formulated to encourage and promote diversity in the workplace as well as in educational settings. Theoretically, this research contributes to the growing body of literature regarding startup performances. However, most of the high-tech startups in France did not contain the required data for gaining clear facts and figures. This limitation can be catered to in the future by targeting more advanced high-tech startups in France.
Fertility and Pregnancy-Associated ß-Cell Proliferation in Mice Deficient in Proglucagon-Derived Peptides

Proglucagon, which is encoded by the glucagon gene (Gcg), is the precursor of several peptide hormones, including glucagon and glucagon-like peptide 1 (GLP-1). Whereas glucagon stimulates hepatic glycogenolysis and gluconeogenesis, GLP-1 stimulates insulin secretion to lower blood glucose and also supports ß-cell proliferation and protection from apoptotic stimuli. Pregnancy is a strong inducer of change in islet function, however the roles of proglucagon-derived peptides in pregnancy are only partially understood. In the present study, we analyzed fertility and pregnancy-associated changes in homozygous glucagon-green fluorescent protein (gfp) knock-in mice (Gcggfp/gfp), which lack all the peptides derived from proglucagon. Female Gcggfp/gfp mice could deliver and raise Gcggfp/gfp pups to weaning and Gcggfp/gfp pups from Gcggfp/gfp dams were viable and fertile. Pregnancy induced ß-cell proliferation in Gcggfp/gfp mice as well as in control mice. However, serum insulin levels in pregnant Gcggfp/gfp females were lower than those in control pregnant females under ad libitum feeding, and blood glucose levels in pregnant Gcggfp/gfp females were higher after gestational day 12. Gcggfp/gfp females showed a decreased pregnancy rate and smaller litter size. The rate of successful breeding was significantly lower in Gcggfp/gfp females and was not improved by experience of breeding. Taken together, proglucagon-derived peptides are not required for pregnancy-associated ß-cell proliferation, however, are required for regulation of blood glucose levels and normal reproductive capacity. Gcggfp/gfp mice may serve as a novel model to analyze the effect of mild hyperglycemia during late gestational periods.
Birth Weight in Relation to Leisure Time Physical Activity in Adolescence and Adulthood: Meta-Analysis of Results from 13 Nordic Cohorts

Background Prenatal life exposures, potentially manifested as altered birth size, may influence the later risk of major chronic diseases through direct biologic effects on disease processes, but also by modifying adult behaviors such as physical activity that may influence later disease risk. Methods/Principal Findings We investigated the association between birth weight and leisure time physical activity (LTPA) in 43,482 adolescents and adults from 13 Nordic cohorts. Random effects meta-analyses were performed on categorical estimates from cohort-, age-, sex- and birth weight specific analyses. Birth weight showed a reverse U-shaped association with later LTPA; within the range of normal weight the association was negligible but weights below and above this range were associated with a lower probability of undertaking LTPA. Compared with the reference category (3.26–3.75 kg), the birth weight categories of 1.26–1.75, 1.76–2.25, 2.26–2.75, and 4.76–5.25 kg, had odds ratios of 0.67 (95% confidence interval: 0.47, 0.94), 0.72 (0.59, 0.88), 0.89 (0.79, 0.99), and 0.65 (0.50, 0.86), respectively. The shape and strength of the birth weight-LTPA association was virtually independent of sex, age, gestational age, educational level, concurrent body mass index, and smoking. Conclusions/Significance The association between birth weight and undertaking LTPA is very weak within the normal birth weight range, but both low and high birth weights are associated with a lower probability of undertaking LTPA, which hence may be a mediator between prenatal influences and later disease risk.
Long‐lasting patch reactions to gold sodium thiosulfate occurs frequently in healthy volunteers

In a skin irritancy study in healthy volunteers with 3 metal salts, aqueous gold sodium thiosulfate (GSTS) in a dilution series caused unexpectedly frequent and strong patch test reactions on volar forearm skin in 22 of 31 participants (71%). The reactions showed morphological features consistent with a contact allergic reaction, and the crescendo type of the response speaks in favour of an allergic nature. Further, 8 of the 31 (26%) developed long‐lasting test reactions. A follow‐up interview among 28/31 participants 10 years later showed that none had experienced long‐term consequences in the form of skin and/or mucosal complaints related to exposure to gold items. The results indicate that inclusion of GSTS in routine patch testing may cause problems regarding interpretation and clinical relevance of positive GSTS patch tests, which fulfil the clinical criteria of a contact allergy.
8 × 120 Gb/s transmission over a cascade of two spans with a total loss in excess of 120 dB

This paper describes developments in unrepeatered systems architecture which result in a significant reduction of Capital and Operational Expenditures. We report 8 × 120 Gb/s transmission over a cascade of two legacy spans of 303.5 km (59.7 dB) and 342.9 km (60.8 dB).
Compact continuum source finding for next generation radio surveys

We present a detailed analysis of four of the most widely used radio source-finding packages in radio astronomy, and a program being developed for the Australian Square Kilometer Array Pathfinder telescope. The four packages: sextractor, sfind, imsad and selavy are shown to produce source catalogues with high completeness and reliability. In this paper we analyse the small fraction (∼1 per cent) of cases in which these packages do not perform well. This small fraction of sources will be of concern for the next generation of radio surveys which will produce many thousands of sources on a daily basis, in particular for blind radio transients surveys. From our analysis we identify the ways in which the underlying source-finding algorithms fail. We demonstrate a new source-finding algorithm aegean, based on the application of a Laplacian kernel, which can avoid these problems and can produce complete and reliable source catalogues for the next generation of radio surveys.
Effectiveness of submucosal dexamethasone to control postoperative pain & swelling in apicectomy of maxillary anterior teeth.

PURPOSE The purpose of this study was to evaluate the effect of submucosal dexamethasone injection to control postoperative pain and swelling in apicectomy of maxillary anterior teeth. METHODS A randomized, controlled trial comprising 60 adult patients (68.3% male, 31.7% female) with no local or systemic problems was conducted. Patients were randomly divided into two groups: Group A was given 4mg dexamethasone injection perioperatively. Group B (control group) was treated conventionally without any steroid injection. Postoperative pain and swelling was evaluated using a visual analog scale (VAS). Objective measurements of facial pain and swelling were performed daily up to six days postoperatively. RESULTS Dexamethasone group showed significant reduction in pain and swelling postoperatively compared with the control. CONCLUSION Submucosal dexamethasone 4mg injection is an effective therapeutic strategy for swift and comfortable improvement after surgical procedure and has a significant effect on reducing postoperative pain and swelling. The treatment offers a simple, safe, painless, noninvasive and cost effective therapeutic option for moderate and severe cases.
Three‐Dimensional Electrical Resistivity Tomography of the Solfatara Crater (Italy): Implication for the Multiphase Flow Structure of the Shallow Hydrothermal System

The Solfatara volcano is the main degassing area of the Campi Flegrei caldera, characterized by 60 years of unrest. Assessing such renewal activity is a challenging task because hydrothermal interactions with magmatic gases remain poorly understood. In this study, we decipher the complex structure of the shallow Solfatara hydrothermal system by performing the first 3‐D, high‐resolution, electrical resistivity tomography of the volcano. The 3‐D resistivity model was obtained from the inversion of 43,432 resistance measurements performed on an area of ~0.68 km2. The proposed interpretation of the multiphase hydrothermal structures is based on the resistivity model, a high‐resolution infrared surface temperature image, and 1,136 soil CO2 flux measurements. In addition, we realized 27 soil cation exchange capacity and pH measurements demonstrating a negligible contribution of surface conductivity to the shallow bulk electrical conductivity. Hence, we show that the resistivity changes are mainly controlled by fluid content and temperature. The high‐resolution tomograms identify for the first time the structure of the gas‐dominated reservoir at 60 m depth that feeds the Bocca Grande fumarole through a ~10 m thick channel. In addition, the resistivity model reveals a channel‐like conductive structure where the liquid produced by steam condensation around the main fumaroles flows down to the Fangaia area within a buried fault. The model delineates the emplacement of the main geological structures: Mount Olibano, Solfatara cryptodome, and tephra deposits. It also reveals the anatomy of the hydrothermal system, especially two liquid‐dominated plumes, the Fangaia mud pool and the Pisciarelli fumarole, respectively.
Statistics of Extreme Time‐Integrated Geomagnetic Activity

A statistical analysis of the time‐integrated Dst index is performed over 1958–2007. The tail of the probability distribution of extreme time‐integrated Dst events, which occur during strong geomagnetic storms, can be precisely fitted by a power law function with upper cutoff, apparently not exceeded even by the 1859 Carrington event. This time‐integrated Dst is expected to be a reasonable proxy for maximum densities of MeV electrons in the heart of the outer radiation belt, which are known to pose a serious threat to satellites. During such strong events, a correlation is found between the time‐integrated levels of various physical quantities, such as interplanetary magnetic field Bz, particle energy fluxes measured during injections in the magnetotail, geosynchronous ULF wave index, and geomagnetic activity in the inner magnetosphere, suggesting cumulative effects from successive disturbances.
Definitions, End Points, and Clinical Trial Designs for Non-Muscle-Invasive Bladder Cancer: Recommendations From the International Bladder Cancer Group.

PURPOSE To provide recommendations on appropriate clinical trial designs in non-muscle-invasive bladder cancer (NMIBC) based on current literature and expert consensus of the International Bladder Cancer Group. METHODS We reviewed published trials, guidelines, meta-analyses, and reviews and provided recommendations on eligibility criteria, baseline evaluations, end points, study designs, comparators, clinically meaningful magnitude of effect, and sample size. RESULTS NMIBC trials must be designed to provide the most clinically relevant data for the specific risk category of interest (low, intermediate, or high). Specific eligibility criteria and baseline evaluations depend on the risk category being studied. For the population of patients for whom bacillus Calmette-Guérin (BCG) has failed, the type of failure (BCG unresponsive, refractory, relapsing, or intolerant) should be clearly defined to make comparisons across trials feasible. Single-arm designs may be relevant for the BCG-unresponsive population. Here, a clinically meaningful initial complete response rate (for carcinoma in situ) or recurrence-free rate (for papillary tumors) of at least 50% at 6 months, 30% at 12 months, and 25% at 18 months is recommended. For other risk levels, randomized superiority trial designs are recommended; noninferiority trials are to be used sparingly given the large sample size required. Placebo control is considered unethical for all intermediate- and high-risk strata; therefore, control arms should comprise the current guideline-recommended standard of care for the respective risk level. In general, trials should use time to recurrence or recurrence-free survival as the primary end point and time to progression, toxicity, disease-specific survival, and overall survival as potential secondary end points. Realistic efficacy thresholds should be set to ensure that novel therapies receive due review by regulatory bodies. CONCLUSION The International Bladder Cancer Group has developed formal recommendations regarding definitions, end points, and clinical trial designs for NMIBC to encourage uniformity among studies in this disease.
Empirical Evaluations of Animacy Annotation

This article presents empirical evaluations of aspects of annotation for the linguistic property of animacy in Swedish, ranging from manual human annotation, automatic classification and, finally, an external evaluation in the task of syntactic parsing. We show that a treatment of animacy as a lexical semantic property of noun types enables generalization over distributional properties of these nouns which proves beneficial in automatic classification and furthermore gives significant improvements in terms of parsing accuracy for Swedish, compared to a state-of-the-art baseline parser with gold standard animacy information.