Miracle-dz/UniFAR-FTUs huggingface dataset:
Suivi d’enfants exposés aux rayonnements ionisants dans le cadre de procédures radiologiques à visée diagnostique

Compte tenu de la radiosensibilite accrue des enfants aux rayonnements ionisants, notre objectif est d’evaluer les risques de cancers solides et de leucemies a long terme associes aux expositions medicales recues pendant l’enfance. Deux etudes de cohorte sont realisees par le Laboratoire d’epidemiologie de l’Institut de radioprotection et de surete nucleaire (IRSN). L’une, la « Cohorte Enfant Scanner » porte sur les enfants nes apres le 01/01/1995 et exposes aux rayonnements ionisants lors de scanners realises entre 2000 et 2013. L’autre porte sur les enfants exposes lors de procedures de cardiologie interventionnelle avant l’âge de 10 ans entre 2000 et 2013. Pour chacune des cohortes, une evaluation retrospective individuelle de l’exposition sera realisee par l’Unite d’expertise en radioprotection medicale de l’IRSN. Un suivi passif en termes de cancers solides et de leucemies sera realise grâce aux donnees des registres de cancers pediatriques et aux donnees de mortalite. La « Cohorte Enfant Scanner » est constituee de plus 80 000 enfants et s’inscrit dans le projet europeen EPI-CT, qui regroupe 9 cohortes nationales. A terme, la cohorte des enfants en cardiologie interventionnelle regroupera plus de 8 000 enfants. Ces etudes de cohortes, avec un suivi prolonge, permettront d’etudier l’impact sur la sante des expositions radiologiques recues pendant l’enfance.
Contextual cost: When a visual-search target is not where it should be

Visual search is often facilitated when the search display occasionally repeats, revealing a contextual-cueing effect. According to the associative-learning account, contextual cueing arises from associating the display configuration with the target location. However, recent findings emphasizing the importance of local context near the target have given rise to the possibility that low-level repetition priming may account for the contextual-cueing effect. This study distinguishes associative learning from local repetition priming by testing whether search is directed toward a target's expected location, even when the target is relocated. After participants searched for a T among Ls in displays that repeated 24 times, they completed a transfer session where the target was relocated locally to a previously blank location (Experiment 1) or to an adjacent distractor location (Experiment 2). Results revealed that contextual cueing decreased as the target appeared farther away from its expected location, ultimately resulting in a contextual cost when the target swapped locations with a local distractor. We conclude that target predictability is a key factor in contextual cueing.
Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina

We studied eight kindreds with gyrate atrophy of choroid and retina (GA), a rare autosomal recessive disorder caused by mutations of the OAT gene, encoding the homoexameric enzyme ornithine‐delta‐aminotransferase. We identified four novel and five previously reported mutations. Missense alleles were expressed in yeast strain carrying a deletion of the orthologous of human OAT. All mutations markedly reduced enzymatic activity. However, the effect on the yeast growth was variable, suggesting that some mutations retain residual activity, below the threshold of the enzymatic assay. Mutant proteins were either highly unstable and rapidly degraded, or failed to assemble to form the active OAT hexamer. Where possible, fibroblast analysis confirmed these data. We found no correlation between the residual enzymatic activity and the age of onset, or the severity of symptoms. Moreover, the response to B6 was apparently not related to the specific mutations carried by patients. Overall these data suggest that other factors besides the specific OAT genotype modulate (GA) phenotype in patients. Finally, we found that 5‐aminoimidazole‐4‐carboxamide ribonucleoside (AICAR), an AMPK activator known to increase mitochondrial biogenesis, markedly stimulates OAT expression, thus representing a possible treatment for a subset of GA patients with hypomorphic alleles.
The Care of the Rheumatoid Hand

In this book the author reaffirms what many students of arthritis have long suspected: if satisfactory function is to be preserved or regained in the hand disabled by rheumatoid arthritis, treatment must be begun early and surgical correction cannot long be delayed. This is a useful, timely book. It advances our understanding of the repair and rehabilitation of the rheumatoid hand as far as we should go until we have learned more about the permanence of these procedures. In our present ignorance it is probably arrant nonsense, as the author states, to delay surgery until the sedimentation rate falls and the inflammation abates. A description of the pathological changes and a kinesiology of the hand muscles prepare the reader for a discussion of the operative procedures. These are illustrated with many excellent photographs. In the early surgical treatment as complete a removal as possible of the inflamed synovial tissue is
Phenotype and Polyp Landscape in Serrated Polyposis Syndrome: A Series of 100 Patients From Genetics Clinics

Serrated polyposis syndrome (SPS), also known as hyperplastic polyposis, is a syndrome of unknown genetic basis defined by the occurrence of multiple serrated polyps in the large intestine and associated with an increased risk of colorectal cancer (CRC). There are a variety of SPS presentations, which may encompass a continuum of phenotypes modified by environmental and genetic factors. To explore the phenotype of SPS, we recorded the histologic and molecular characteristics of multiple colorectal polyps in patients with SPS recruited between 2000 and 2010 from genetics clinics in Australia, New Zealand, Canada, and the United States. Three specialist gastrointestinal pathologists reviewed the polyps, which they classified into conventional adenomas or serrated polyps, with various subtypes, according to the current World Health Organization criteria. Mutations in BRAF and KRAS and mismatch repair protein expression were determined in a subset of polyps. A total of 100 patients were selected for the study, of whom 58 were female and 42 were male. The total polyp count per patient ranged from 6 to 150 (median 30). The vast majority of patients (89%) had polyposis affecting the entire large intestine. From this cohort, 406 polyps were reviewed. Most of the polyps (83%) were serrated polyps: microvesicular hyperplastic polyps (HP) (n=156), goblet cell HP (n=25), sessile serrated adenoma/polyps (SSA/P) (n=110), SSA/P with cytologic dysplasia (n=28), and traditional serrated adenomas (n=18). A further 69 polyps were conventional adenomas. BRAF mutation was mainly detected in SSA/P with dysplasia (95%), SSA/P (85%), microvesicular HP (76%), and traditional serrated adenoma (54%), whereas KRAS mutation was present mainly in goblet cell HP (50%) and in tubulovillous adenoma (45%). Four of 6 SSA/Ps with high-grade dysplasia showed loss of MLH1/PMS2 expression. CRC was diagnosed in 39 patients who were more often found to have a conventional adenoma compared with patients without CRC (P=0.003). Patients with SPS referred to genetics clinics had a pancolonic disease with a high polyp burden and a high rate of BRAF mutation. The occurrence of CRC was associated with the presence of conventional adenoma.
0.5 Mb Array as a First‐Line Prenatal Cytogenetic Test in Cases without Ultrasound Abnormalities and Its Implementation in Clinical Practice

Using whole‐genome array testing instead of karyotyping in prenatal diagnosis for all indications may be desirable because of the higher diagnostic yield and shorter reporting time. The goal of this research was finding the optimal array resolution that could replace routine prenatal karyotyping in cases without ultrasound abnormalities, for example, referred for advanced maternal age or abnormal first trimester screening. As variants of unknown clinical significance (VOUS), if reported, might complicate decision‐making about continuation of pregnancy, such an optimal array resolution should have a high abnormality detection rate and reveal a minimal amount of VOUS. The array data of 465 fetuses were retrospectively evaluated with several resolution levels, and the Decipher microdeletion/microduplication syndrome list was reviewed to assess what could be theoretically missed with a lower resolution. A 0.5‐Mb resolution showed a high diagnostic yield potential and significantly minimized the number of VOUS. Based on our experience, we recommend genomic SNP array as a first‐tier test in prenatal diagnosis. The resolution should be chosen based on the indication. In cases of fetal ultrasound abnormalities or intrauterine fetal death (IUFD), high‐resolution analysis should be done. In other cases, we advise replacing karyotyping by SNP array analysis with 0.5 Mb resolution.
Acute lymphoblastic leukemia and chronic lymphocytic leukemia in dogs

An Australian cattle dog (case 1: 6-year-old castrated male) and a Shih-Tzu dog (case 2: 8-year-old castrated male) were referred to the Gyeongsang Animal Medical Center due to anorexia and depression. Physical examinations, complete blood counts, serum chemical analysis, radiography, ultrasonography, and bone marrow biopsy were performed. Upon physical examinations of cases 1 and 2, enlargement of superficial lymph nodes was not identified. Hematologic findings in these dogs included leukocytosis with severe lymphocytosis, anemia, and thrombocytopenia. Upon radiography, both dogs showed splenomegaly. Upon examination of a peripheral blood smear in case 1, immature lymphoid cells, featuring decreased nuclear chromatin condensation and nuclear pleomorphism, were present. Biopsy samples of the bone marrow in case 1 revealed hypercellularity as well as a large number of immature lymphoblastic cells similar in shape to cells in the peripheral blood. The characteristic morphological features of peripheral blood and bone marrow samples in case 2 were small lymphocytes. Thus, the dogs were tentatively diagnosed with acute lymphoblastic leukemia (ALL) and chronic lymphocytic leukemia (CLL), respectively. After diagnosis, the CLL patient was administered chlorambucil and prednisolone therapy. Due to its similarity to human leukemia, the canine leukemia model provides a valuable model for research into human leukemia.
Malnutrition among children in Southern Ethiopia: levels and risk factors.

Using data collected in the Community and Family Survey of the Southern Nations Nationalities and Peoples Region, this study estimates the level of child malnutrition and identifies the factors associated with chronic malnutrition among children in the five densely populated zones of the Region. A total of 850 children aged 3 - 36 months were included in the present study. Both bivariate and multivariate techniques were employed in order to identify risk factors of child malnutrition. The results indicate that about 45% of children are stunted, 42% underweight, and 12% wasted. The search for the factors affecting long-term nutritional status point to both socio-economic and demographic factors. Among the socio-economic factors, household economic status and women's education were important in explaining the variation in long-term nutritional status of children. From the demographic variables included in the analysis, age, preceding birth interval and number of under-five children were associated with stunting. Moreover, number of antenatal care visits the mother had during the pregnancy of the child and age at weaning are linked to chronic malnutrition. The study recommended the need for programs related to income-generating activities for poor households and family life education, including appropriate child care for women in reproductive age groups. (Ethiopian Journal of Health Development, 2000, 14(3): 283-292)
Large-Area Crystalline Silicon Solar Cell Using Novel Antireflective Nanoabsorber Texturing Surface by Multihollow Cathode Plasma System and Spin-On Doping

We present 11.7% efficient p-type crystalline silicon solar cells with a nanoscale textured surface and no dielectric antireflection coating. We propose nanocrystalline-like textured surface consisting of nanocrystalline columnar structures of diameters from 50 to 100 nm and depth of about 500 nm formed by reactive-ion etching (RIE) in multihollow cathode system. This novel nano textured surface acts as an antireflective absorbing surface of c-Si abbreviate as ARNAB (antireflective nanoabsorber). Light shining on the surface of RIE-etched silicon bounces back and forth between the spikes in such a way that most of it never comes back. Radio frequency (RF) hollow cathode discharge allows an improvement of plasma density by an order of magnitude in comparison to standard RF parallel-plate discharge. Desirable black silicon layer has been achieved when RF power of about 20 Watt per one hollow cathode glow is applied for our multihollow cathode system. The RF power frequency was 13.56 MHz. The antireflection property of ARNAB textured surface has been investigated and compared with wet-textured and PECVD coated silicon samples. Solar cell using low-cost spin-on coating technique has been demonstrated in this paper. We have successfully achieved 11.7% efficient large area (98 cm2) ARNAB textured crystalline silicon solar cell using low-cost spin-on coating (SOD) doping.
A Meta-Analytic Review of the Effectiveness of Corrections-Based Treatments for Drug Abuse

The Correctional Drug Abuse Treatment Effectiveness project obtained and coded evaluation research studies (unpublished as well as published) of treatment/intervention programs reported from 1968 to 1996. Meta-analysis was used to examine evidence for their effectiveness in reducing recidivism for incarcerated offenders who are drug abusers. Results supported the effectiveness of therapeutic community programs but not of boot camps and drug-focused group counseling. Evaluations of other interventions were based on too few studies to draw strong conclusions, but promising treatments that warrant further attention include use of methadone maintenance treatment, substance abuse education, 12-step programs, and cognitive behavioral therapy for offender populations.
The Women of Katrina: How Gender, Race, and Class Matter in an American Disaster

analyst. It helps to see reasonably familiar stories given a fresh interpretation, because this shows off the most novel parts of the framework to their best advantage. This is no light read, packed with theory and empirical material as it is. Yet Transformative Policy for Poor Women feels overdue. It feels like the right moment for a serious analytical approach to the failures of policies for poor women. Its insights into how women’s informal economic and unpaid care work overshadow and largely determine development outcomes for poor people seem timely: it’s certainly time these concerns became part of mainstream development policy, if mainstream development policy is as concerned with gender equality as it claims to be. Bina Fernandez might say little about why women’s unpaid care and low-paid informal economy work remain invisible or a low priority on the development policy agenda. But she shows clearly that ignoring the inconvenient realities of women’s lives are precisely the reasons policies fail, again and again and again.
The central role of myostatin in skeletal muscle and whole body homeostasis

Myostatin is a powerful negative regulator of skeletal muscle mass in mammalian species. It plays a key role in skeletal muscle homeostasis and has now been well described since its discovery. Myostatin is capable of inducing muscle atrophy via its inhibition of myoblast proliferation, increasing ubiquitin‐proteasomal activity and downregulating activity of the IGF–Akt pathway. These well‐recognized effects are seen in multiple atrophy causing situations, including injury, diseases such as cachexia, disuse and space flight, demonstrating the importance of the myostatin signalling mechanism. Based on this central role, significant work has been pursued to inhibit myostatin's actions in vivo. Importantly, several new studies have uncovered roles for myostatin distinct from skeletal muscle size. Myostatin has been suggested to play a role in cardiomyocyte homeostasis, glucose metabolism and adipocyte proliferation, all of which are examined in detail below. Based on these effects, myostatin inhibition has potential to be widely utilized in many Western diseases such as chronic obstructive pulmonary disease, type II diabetes and obesity. However, if myostatin inhibitors are to successfully translate from bench‐top to bedside in the near future, awareness must be raised on these non‐traditional effects of myostatin away from skeletal muscle. Indeed, further research into these novel areas is required.
Analysis of Crossover Breakpoints Yields New Insights into the Nature of the Gene Conversion Events Associated with Large NF1 Deletions Mediated by Nonallelic Homologous Recombination

Large NF1 deletions are mediated by nonallelic homologous recombination (NAHR). An in‐depth analysis of gene conversion operating in the breakpoint‐flanking regions of large NF1 deletions was performed to investigate whether the rate of discontinuous gene conversion during NAHR with crossover is increased, as has been previously noted in NAHR‐mediated rearrangements. All 20 germline type‐1 NF1 deletions analyzed were mediated by NAHR associated with continuous gene conversion within the breakpoint‐flanking regions. Continuous gene conversion was also observed in 31/32 type‐2 NF1 deletions investigated. In contrast to the meiotic type‐1 NF1 deletions, type‐2 NF1 deletions are predominantly of post‐zygotic origin. Our findings therefore imply that the mitotic as well as the meiotic NAHR intermediates of large NF1 deletions are processed by long‐patch mismatch repair (MMR), thereby ensuring gene conversion tract continuity instead of the discontinuous gene conversion that is characteristic of short‐patch repair. However, the single type‐2 NF1 deletion not exhibiting continuous gene conversion was processed without MMR, yielding two different deletion‐bearing chromosomes, which were distinguishable in terms of their breakpoint positions. Our findings indicate that MMR failure during NAHR, followed by post‐meiotic/mitotic segregation, has the potential to give rise to somatic mosaicism in human genomic rearrangements by generating breakpoint heterogeneity.
Mutation Update for GNE Gene Variants Associated with GNE Myopathy

The GNE gene encodes the rate‐limiting, bifunctional enzyme of sialic acid biosynthesis, uridine diphosphate‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase (GNE). Biallelic GNE mutations underlie GNE myopathy, an adult‐onset progressive myopathy. GNE myopathy‐associated GNE mutations are predominantly missense, resulting in reduced, but not absent, GNE enzyme activities. The exact pathomechanism of GNE myopathy remains unknown, but likely involves aberrant (muscle) sialylation. Here, we summarize 154 reported and novel GNE variants associated with GNE myopathy, including 122 missense, 11 nonsense, 14 insertion/deletions, and seven intronic variants. All variants were deposited in the online GNE variation database (http://www.dmd.nl/nmdb2/home.php? select_db=GNE). We report the predicted effects on protein function of all variants well as the predicted effects on epimerase and/or kinase enzymatic activities of selected variants. By analyzing exome sequence databases, we identified three frequently occurring, unreported GNE missense variants/polymorphisms, important for future sequence interpretations. Based on allele frequencies, we estimate the world‐wide prevalence of GNE myopathy to be ∼4–21/1,000,000. This previously unrecognized high prevalence confirms suspicions that many patients may escape diagnosis. Awareness among physicians for GNE myopathy is essential for the identification of new patients, which is required for better understanding of the disorder's pathomechanism and for the success of ongoing treatment trials.
Systematic Review of the Relative Efficacy of Non-Steroidal Anti-Inflammatory Drugs and Opioids in the Treatment of Acute Renal Colic

To our knowledge, a comparison of the effects of standalone versus integrated teaching in critical appraisal skills and EBM has not been done before. In addition to not making the distinction between standalone and integrated courses, several existing reviews have generally considered undergraduates and postgraduates together. There is empirical evidence, however, that the outcomes of teaching EBM markedly differ between undergraduates and postgraduates, with smaller gains in knowledge among the postgraduates. Moreover, adult learning theory suggests that the determinants of learning in the two groups are different, with postgraduate learning tending to be driven by self motivation and relevance to clinical practice, whereas undergraduate learning is generally driven by external factors such as curriculum and examinations. This suggests that effectiveness of educational interventions in teaching critical appraisal skills and EBM should be evaluated separately for postgraduate and continuing education, which we have done. Studies examining the effectiveness of educational interventions may suffer from various weaknesses. Even a randomised controlled study, which is generally regarded as the optimum method for settling questions of effectiveness, is not immune to many of these weaknesses. These weaknesses include difficulty with standardising the educational intervention(s), contamination between the two arms of a study, inability to blind the study participants and the teachers from the educational intervention(s) leading to selective cointervention, and finally difficulty with measuring outcomes due to the lack of valid and reliable assessment tools. Some of these factors make randomised trials unfeasible in educational settings, thus necessitating other designs such as nonrandomised controlled and before and after studies. We included all three designs in our review. We have shown that while standalone teaching and integrated teaching are both effective in improving the knowledge base, it is clinically integrated teaching of EBM that is likely to bring about changes in skills, attitudes, and behaviour (fig 2). The purpose of EBM is to integrate best research evidence with clinical skills and patients’ values and preferences. Teaching EBM should not only equip practitioners with knowledge and skills but also foster their attitudes and encourage the practice of EBM. This is because the ultimate aim of improving care could not be achieved with changes in knowledge and skills alone—it would also require changes in attitudes and behaviour. Critical appraisal and EBM teaching that is integrated into clinical practice seems more effective in improving such substantial outcomes including behavioural changes. Teachers of critical appraisal and EBM should aim to bring teaching out of classrooms into the clinic, but this will require a greater effort.