Miracle-dz/UniFAR-FTUs huggingface dataset:
Characteristics of clinical and electrophysiological pattern of Charcot‐Marie‐Tooth 4C

To describe the clinical and electrophysiological features evoking CMT4C, an autosomal recessive (AR) form of Charcot‐Marie‐Tooth disease (CMT) due to mutations in the SH3TC2 gene, we screened the coding sequence of SH3TC2 gene in 102 unrelated patients with a demyelinating or intermediate CMT and a family history compatible with an AR transmission. We identified among this cohort 16 patients carrying two mutations in the SH3TC2 gene, but medical records finally analyzed 14 patients. We report clinical, electrophysiological, and molecular data of 14 patients (9 men, 5 women) with CMT4C. Mean age at examination was 43.6 years (median = 42.5). Among the 14 studied cases 6 had scoliosis as the presenting sign. Cranial nerve involvement affecting either the VIIIth, VIIth, XIIth or a combination of the IXth and Xth nerves was noted in 10 patients. Remarkably, 50% of the patients had proximal limb involvement at the time of examination. The hallmark of the electrophysiological study was the presence of probable conduction block and temporal dispersion. Thus the clinical and paraclinical spectrum of CMT4C can guide the clinician to perform analysis of the SH3TC2 gene.
The core human mitochondrial transcription initiation complex

We recently demonstrated that the core transcription initiation complex in human mitochondria is two-component system (POLRMT and h-mtFB2). Human mtTFA/TFAM, previously proposed to be a requisite initiation complex member, is dispensable for promoter-specific initiation in vitro and we propose instead regulates relative promoter activity and/or overall nucleoid transcription and replication potential.
Condiciones y mejoramiento de la educación intercultural de los estudiantes indígenas, nahuas y huicholes de educación primaria en Jalisco

Esta investigacion en proceso esta financiada por el Fondo Sectorial de Investigacion para la Educacion SEP - CONACYT. Se desarrolla en los asentamientos tradicionales indigenas en el estado, huicholes al norte y nahuas al sur del estado de Jalisco; ademas de escuelas con presencia indigena en la zona metropolitana de Guadalajara. Las escuelas tienen dificultades tanto en la implementacion de la educacion intercultural, como altos indices de reprobacion, desercion y repitencia. La finalidad ultima es, la atencion de las condiciones del fracaso escolar y la interculturalidad, se propone estudiar las practicas y los significados culturales de los agentes educativos, en el campo en donde se llevan a cabo.
The Nuclear Ribosomal DNA Intergenic Spacer as a Target Sequence To Study Intraspecific Diversity of the Ectomycorrhizal Basidiomycete Hebeloma cylindrosporum Directly on Pinus Root Systems

ABSTRACT Polymorphism of the nuclear ribosomal DNA intergenic spacer (IGS) of the ectomycorrhizal basidiomycete Hebeloma cylindrosporum was studied to evaluate whether this sequence could be used in field studies to estimate the diversity of strains forming mycorrhizas on individual Pinus pinaster root systems. This sequence was amplified by PCR from 125 haploid homokaryotic strains collected in 14 P. pinaster stands along the Atlantic coast of France by using conserved oligonucleotide primers. Restriction enzyme digestion of the amplified 3.4-kbp-long IGS allowed us to characterize 24 alleles whose frequencies differed. Nine of these alleles were found only once, whereas about 60% of the strains contained four of the alleles. Local populations could be almost as diverse as the entire population along a 150-km stretch of coastline that was examined; for example, 13 alleles were found in a single forest stand. The IGS from one strain was partially sequenced, and the sequence data were used to design oligonucleotides which allowed separate PCR amplification of three different segments of the IGS. Most polymorphisms observed among the full-length IGS regions resulted from polymorphisms in an internal ca. 1,500-bp-long sequence characterized by length variations that may have resulted from variable numbers of a T2AG3 motif. This internal polymorphic sequence could not be amplified from the genomes of nine other Hebeloma species. Analysis of this internal sequence amplified from the haploid progenies of 10 fruiting bodies collected in a 70-m2 area resulted in identification of six allelic forms and seven distinct diplotypes out of the 21 possible different combinations. Moreover, optimization of the PCR conditions resulted in amplification of this sequence from more than 80% of the DNA samples extracted from individual H. cylindrosporum infectedP. pinaster mycorrhizal root tips, thus demonstrating the usefulness of this sequence for studying the below-ground diversity of mycorrhizas formed by genets belonging to the same fungal species.
Stress and the individual. Mechanisms leading to disease.

OBJECTIVE This article presents a new formulation of the relationship between stress and the processes leading to disease. It emphasizes the hidden cost of chronic stress to the body over long time periods, which act as a predisposing factor for the effects of acute, stressful life events. It also presents a model showing how individual differences in the susceptibility to stress are tied to individual behavioral responses to environmental challenges that are coupled to physiologic and pathophysiologic responses. DATA SOURCES Published original articles from human and animal studies and selected reviews. Literature was surveyed using MEDLINE. DATA EXTRACTION Independent extraction and cross-referencing by us. DATA SYNTHESIS Stress is frequently seen as a significant contributor to disease, and clinical evidence is mounting for specific effects of stress on immune and cardiovascular systems. Yet, until recently, aspects of stress that precipitate disease have been obscure. The concept of homeostasis has failed to help us understand the hidden toll of chronic stress on the body. Rather than maintaining constancy, the physiologic systems within the body fluctuate to meet demands from external forces, a state termed allostasis. In this article, we extend the concept of allostasis over the dimension of time and we define allostatic load as the cost of chronic exposure to fluctuating or heightened neural or neuroendocrine response resulting from repeated or chronic environmental challenge that an individual reacts to as being particularly stressful. CONCLUSIONS This new formulation emphasizes the cascading relationships, beginning early in life, between environmental factors and genetic predispositions that lead to large individual differences in susceptibility to stress and, in some cases, to disease. There are now empirical studies based on this formulation, as well as new insights into mechanisms involving specific changes in neural, neuroendocrine, and immune systems. The practical implications of this formulation for clinical practice and further research are discussed.
Role of staphylococcal superantigens in upper airway disease

Purpose of reviewChronic rhinosinusitis with nasal polyps often represents a chronic severe inflammatory disease of the upper airways and may serve as a model for lower airway diseases such as late-onset intrinsic asthma. Enterotoxins derived from Staphylococcus aureus have been implicated in the pathophysiology of nasal polyps as disease-modifying factors; recent findings using therapeutic proof-of-concept approaches support this hypothesis. Recent findingsNasal polyps (chronic rhinosinusitis with nasal polyps) are characterized by a T-helper-2 dominated cytokine pattern that includes interleukin-5 and formation of immunoglobulin E. This is in contrast to chronic rhinosinusitis without polyps, which exhibits T-helper-1 biased cytokine release. It is now evident that the cytokine environment is decisive regarding the impact of S. aureus derived enterotoxins, which function as superantigens. S. aureus enterotoxin B further shifts the cytokine pattern in nasal polyps toward T-helper-2 cytokines (increases greater than twofold for interleukin-2, interleukin-4 and interleukin-5), but it disfavours the T-regulatory cytokines interleukin-10 and transforming growth factor-β1. Furthermore, S. aureus derived enterotoxins influence local immunoglobulin synthesis and induce polyclonal immunoglobulin E production, which may contribute to severe inflammation via activation of mast cells. SummaryFrom this new understanding of chronic rhinosinusitis with nasal polyps, new therapeutic approaches emerge such as anti-interleukin-5, anti-immunoglobulin E, and antibiotic treatment. These may enlarge the nonsurgical armentarium.
Evidence for social facilitation of preening in the common tern

Social facilitation of reproductive behaviour has been studied extensively in gulls and terns, but social facilitation of preening has been reported only anecdotally, and has not been previously quantified. We studied a common tern, Sterna hirundo, colony during the summers of 1996 and 1997 to test for socially facilitated preening. Scan sampling provided evidence of spatial and temporal synchrony of preening behaviour. Preening occurred more often than expected in groups of three or more neighbours. Breeding pairs also preened simultaneously more often than expected. In loafing (resting) areas, the proportion of preeners present increased with tern density. Behavioural observations suggest that preening spread from neighbour to neighbour. The observed clumping in preening behaviour could not be explained by differences in date, time of day or weather. Social facilitation of preening and other maintenance behaviour may be an important aspect of group living that is often overlooked. Copyright 1998 The Association for the Study of Animal Behaviour.
Threshold of a Symmetrically Pumped Distributed Feedback Fiber Laser With a Variable Phase Shift

In this paper, we study, both theoretically and experimentally, the threshold characteristics of a distributed feedback fiber laser that depend on the value of a phase shift introduced into the fiber Bragg grating structure. We show that as the phase shift possesses a noticeable birefringence, the laser oscillates at any phase shift value. We also reveal that the laser threshold is different for the cavity eigen polarizations and depends on the phase shift value. We derive a simple analytical formula to calculate the laser threshold in the case of pi phase shift; this formula can be utilized to estimate a minimal threshold value for the laser with certain active fiber and Bragg grating parameters. The developed theory allows us to fairly model the experimentally measured dependence of the laser threshold on induced phase shift value.
MS4A8B promotes cell proliferation in prostate cancer

Prostate cancer cells must maintain or achieve the further ability of proliferation during the progression. The molecular mechanisms, however, remain poorly understood. We identified a novel oncogene, termed membrane‐spanning 4‐domains, subfamily A, member 8B (MS4A8B), over‐expressed in prostate cancer.
The Longitudinal Relationship Between Depression and Walking Behavior in Older Latinos

Objectives: This study sought to evaluate the relationship between baseline depression and prospective engagement in walking and exercise behavior after enrollment in an exercise intervention. Methods: The study used baseline, 1-month, 12-month, and 24-month in-person interview and pedometer data collected from Latinos aged >60 years participating in an exercise intervention (¡Caminemos! ) at 27 senior centers (n = 572). Results: After joining an exercise intervention, and when using continuous pedometer data and scores from the Yale Physical Activity Survey (YPAS) as the outcomes of interest, older adults with baseline depression exhibited comparable levels of physical activity across time when compared to their nondepressed counterparts. Significant difference in physical activity levels between the depressed and nondepressed subgroups no longer existed within one month of initiating the exercise intervention. Discussion: Among sedentary older Latino adults, having depression may not delay exercise initiation nor does it appear to prevent achievement or maintenance of an exercise program.
PRETRANSPLANTATION PROGNOSTIC TESTING ON DAMAGED KIDNEYS DURING EX VIVO WARM PERFUSION 1

Background. Further expansion of the donor pool with ischemically damaged kidneys will be predicated on the ability to develop prognostic testing. Using a well-established canine autotransplantation injury model, we assessed whether actual restoration of renal metabolism by ex vivo warm perfusion could be used to predict the status of an organ before transplantation. Methods. Kidneys were subjected to 30 min of warm ischemia followed by 24 hr of static storage in ViaSpan at 4°C. After warm ischemia and static storage the kidneys were transitioned to 3 hr of warm perfusion using Exsanguinous Metabolic Support technology. During this period, parameters indicative of renal metabolism and vascular function were used to predict outcomes prospectively. Parameters included measures of oxidative metabolism, perfusion characteristics, and vascular condition. A Viability Score (VS) was calculated as the sum of the three parameters mentioned above. Results were grouped by a VS>2 and a VS<2. Results. A clear association between the severity and duration of graft dysfunction and the VS was observed. Organs with a VS>2 had a significantly milder period of acute tubular necrosis, with both a less severe rise in serum creatinine (mean of 4.4 vs. 11 mg/dl) and a shorter recovery period (mean of 8 vs. 18 days) than those with a VS<2. Conclusions. Results indicate the possibility of utilizing warm perfusion to evaluate kidneys before transplantation. The VS developed demonstrated efficacy in classifying the severity of the acute tubular necrosis and the occurrence of primary nonfunction, offering a sensitive assay for prospective organ testing.
NTL detection of electricity theft and abnormalities for large power consumers In TNB Malaysia

Electricity consumer dishonesty is a problem faced by all power utilities. Finding efficient measurements for detecting fraudulent electricity consumption has been an active research area in recent years. This paper presents an approach towards detection of Non-technical Losses (NTLs) of Large Power Consumers (LPC) in Tenaga Nasional Berhad (TNB) Malaysia. The main motivation of this study is to assist Tenaga Nasional Berhad (TNB) Sdn. Bhd. in Malaysia to reduce its NTLs in the LPC distribution sector. Remote meters installed at premises of LPC customers transmit power consumption data including remote meter events wirelessly to TNB Metering Services Sdn. Bhd. The remote meter reading (RMR) consumption data for TNB LPC customers is recorded based on half-hourly intervals. The technique proposed in this paper correlates the half-hourly RMR consumption data with abnormal meter events. The correlated data provides information regarding consumption characteristics i.e. load profiles of LPC customers, which helps to expose abnormal consumption behavior that is known to be highly correlated with NTL activities and electricity theft. Pilot testing results obtained from TNB Distribution (TNBD) Sdn. Bhd. for onsite inspection of LPC customers in peninsular Malaysia indicate the proposed NTL detection technique is effective with a 55% detection hitrate. With the implementation of this intelligent system, NTL activities of LPC customers in TNB Malaysia will reduce significantly.
African Past or American Present?: The Visual Eloquence of James VanDerZee’s Identical Twins

This article proposes multiple and sometimes contradictory iconographical analyses of a 1924 portrait photograph by Harlem photographer James VanDerZee in order to demonstrate how VanDerZee and his sitters engaged in what Henry Louis Gates calls Signifyin(g). This layered and polyvocal photograph communicates a rich sense of African American identity between the two World Wars: simultaneously modern, modernist, Africanizing, and participating in the creation of a so-called "usable past" for black people in the United States.
Exploring the role of human miRNAs in virus-host interactions using systematic overlap analysis

MOTIVATION Human miRNAs have recently been found to have important roles in viral replication. Understanding the patterns and details of human miRNA interactions during virus-host interactions may help uncover novel antiviral therapies. Based on the abundance of knowledge available regarding protein-protein interactions (PPI), virus-host protein interactions, experimentally validated human miRNA-target pairs and transcriptional regulation of human miRNAs, it is possible to explore the complex regulatory network that exists between viral proteins and human miRNAs at the system level. RESULTS By integrating current data regarding the virus-human interactome and human miRNA-target pairs, the overlap between targets of viral proteins and human miRNAs was identified and found to represent topologically important proteins (e.g. hubs or bottlenecks) at the global center of the human PPI network. Viral proteins and human miRNAs were also found to significantly target human PPI pairs. Furthermore, an overlap analysis of virus targets and transcription factors (TFs) of human miRNAs revealed that viral proteins preferentially target human miRNA TFs, representing a new pattern of virus-host interactions. Potential feedback loops formed by viruses, human miRNAs and miRNA TFs were also identified, and these may be exploited by viruses resulting in greater virulence and more effective replication strategies.
An Examination of Marketing Techniques used to Promote Children’s Vitamins in Parenting Magazines

More than a third of children and adolescents in the United States take vitamins even though professional medical organizations do not endorse their use in healthy children. Regardless of their efficacy, children’s vitamin products are aggressively promoted. Therefore, the goal of this study was to describe and analyze advertisements related to vitamins in the following three popular parenting magazines, Parents, Parenting Early Years, and Parenting School Years. A total of 135 magazines across four years were reviewed. There were 207 advertisements for children’s vitamins, all in the form of chewy or gummy. None of these advertisements included a dosage or a warning. Almost all (92.3%) included a cartoon in the advertisement. Almost a quarter (23.2%) of the advertisements promoted their product with the theme of prevention and more than half (51.2%) included the theme of peace of mind. Parenting magazines are a popular medium for providing exposure to products geared towards children. Companies that market children’s vitamins in these magazines can increase awareness among parents of the risks by providing warning and dosage information in their advertisements. Magazines can also play a role by encouraging responsible marketing and providing editorial content on children’s vitamins and potential consequences of pediatric overdose.
Altered FOXO1 Transcript Levels in Peripheral Blood Mononuclear Cells of Systemic Lupus Erythematosus and Rheumatoid Arthritis Patients

FOXO forkhead transcription factors play an important role in controlling lymphocyte activation and proliferation. To evaluate the possibility that FOXO transcriptional expression is dysregulated in systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) patients, we determined the quantities of FOXO1, FOXO3a, and FOXO4 transcripts in peripheral blood mononuclear cells (PBMCs) from normal controls as well as from SLE and RA patients. Results showed that FOXO1 and FOXO3a are dominant FOXO factors at the transcript level in PBMCs. Statistical analysis showed that the FOXO1 transcript levels in RA patients and in SLE patients with active disease activity were significantly lower than those in normal controls, and the FOXO1 transcript levels were inversely correlated with lupus disease activity. In contrast, the differences in FOXO3a and FOXO4 transcript levels between normal controls and patients were not significant. These data suggest that the transcriptional dysregulation in FOXO1 is possibly linked to the pathogenesis of SLE and RA.
Renal replacement therapy for autosomal dominant polycystic kidney disease (ADPKD) in Europe: prevalence and survival--an analysis of data from the ERA-EDTA Registry.

BACKGROUND Autosomal dominant polycystic kidney disease (ADPKD) is the fourth most common renal disease requiring renal replacement therapy (RRT). Still, there are few epidemiological data on the prevalence of, and survival on RRT for ADPKD. METHODS This study used data from the ERA-EDTA Registry on RRT prevalence and survival on RRT in 12 European countries with 208 million inhabitants. We studied four 5-year periods (1991-2010). Survival analysis was performed by the Kaplan-Meier method and by Cox proportional hazards regression. RESULTS From the first to the last study period, the prevalence of RRT for ADPKD increased from 56.8 to 91.1 per million population (pmp). The percentage of prevalent RRT patients with ADPKD remained fairly stable at 9.8%. Two-year survival of ADPKD patients on RRT (adjusted for age, sex and country) increased significantly from 89.0 to 92.8%, and was higher than for non-ADPKD subjects. Improved survival was noted for all RRT modalities: haemodialysis [adjusted hazard ratio for mortality during the last versus first time period 0.75 (95% confidence interval 0.61-0.91), peritoneal dialysis 0.55 (0.38-0.80) and transplantation 0.52 (0.32-0.74)]. Cardiovascular mortality as a proportion of total mortality on RRT decreased more in ADPKD patients (from 53 to 29%), than in non-ADPKD patients (from 44 to 35%). Of note, the incidence rate of RRT for ADPKD remained relatively stable at 7.6 versus 8.3 pmp from the first to the last study period, which will be discussed in detail in a separate study. CONCLUSIONS In ADPKD patients on RRT, survival has improved markedly, especially due to a decrease in cardiovascular mortality. This has led to a considerable increase in the number of ADPKD patients being treated with RRT.
Alterations in ovarian steroid and gonadotrophin secretion preceding the cessation of regular oestrous cycles in ageing female rats.

To determine whether discernible alterations in neuroendocrine and/or ovarian function precede the loss of regular oestrous cycles in ageing female rats, the present study examined the pattern of gonadotrophin secretion near the time of ovulation and the pattern of ovarian steroid secretion in the early morning of pro-oestrus in middle-aged (10-12 months old) females displaying regular oestrous cycles and compared these with young (4 months old) animals. In addition, the subsequent reproductive patterns in these animals were observed and correlations between the changes in hormonal profiles and the decline in regular reproductive cyclicity were established. In middle-aged females which subsequently ceased to display regular oestrous cycles (middle-aged non-regular; M-NR) within 1-2 months, the pro-oestrous surge of LH was significantly reduced in magnitude. There was no difference in the LH surge between young females and middle-aged animals which maintained regular oestrous cycles (middle-aged regular; M-R) for at least 2 months. There also was no difference in the magnitude of the pro-oestrous FSH surge or in the secondary rise in FSH in the early morning of oestrus among young, M-R and M-NR females. In a separate group of middle-aged females which subsequently became M-NR, serum concentrations of both oestradiol and testosterone in the early morning of pro-oestrus were markedly raised over those in the young and M-R groups. (ABSTRACT TRUNCATED AT 250 WORDS)