Miracle-dz/UniFAR-FTUs huggingface dataset:
Fragile X syndrome: clinical, electroencephalographic and neuroimaging characteristics

We studied 11 patients (9 males) with cytogenetic diagnosis of fragile X syndrome (FXS) with the purpose of investigating the neural circuitry involved in this condition. The ages ranged from 8 to 19. All the individuals presented large ears, elongated faces and autistic features. Ten patients had severe mental retardation. Attention disorder was found in 10 individuals. Electroencephalographic recordings were abnormal in 6 of 10 patients examined, showing focal epileptiform discharges predominantly in frontal and parietal areas. All patients underwent magnetic resonance imaging studies which were abnormal in 8 of them. The most important abnormalities were reduction of the cerebellar vermis and enlargement of the IV ventricle. Single photon emission computerized tomography (SPECT) was performed in 7 patients and was abnormal in all of them, the most frequent finding being a hypoperfusion of the inferior portions of the frontal lobes. Based on the clinical picture, neuropsychological findings and functional and structural imaging studies we suggest that FXS presents with a dysfunction involving a large area of the central nervous system: cerebellum - basal frontal regions - parietal lobes. The literature points to a disturbance involving the same neural circuitry in patients with autism.
Reproduction-Longevity Trade-Off in Anopheles gambiae (Diptera: Culicidae)

ABSTRACT Reduced survival and future reproduction due to of current reproduction is a trade-off known as the cost of reproduction. Surprisingly, only a few studies have assessed the cost of reproduction in arthropod disease vectors, despite its effect on longevity, and thus on vectorial capacity. We evaluated the cost of reproduction on survival of Anopheles gambiae Giles by comparing mosquitoes that were denied exposure to the other sex, hereafter named virgins, and those that were allowed exposure to the other sex and mating, hereafter named mated. Merely 6 d of exposure to females with mating activity reduced male survival from a median of 17 d in virgins to 15 d in mated, indicating that male mating cost is substantial. The increase in mortality of mated males began several days after the exposure to females ended, indicating that mating is not associated with immediate mortality risk. Notably, body size was negatively correlated with male mortality in mated males, but not in virgins. The rate of insemination declined after 4 d of exposure to females, indicating that male mating capacity is limited and further supporting the hypothesis that mating is costly for males. Consistent with previous studies, female survival on sugar alone (median = 16 d) was shorter than on blood and sugar (median = 19 d), regardless if she was mated or virgin. Overall, survival of mated females was lower than that of virgins on a diet of blood and sugar, but no difference was found on a diet of sugar only. However, the cost of reproduction in females remains ambiguous because the difference in survival between virgin and mated females was driven by the difference between virgin (median = 19 d) and uninseminated females exposed to males (median = 17 d), rather than between virgin and inseminated females (median = 19 d). Accordingly, sperm and seminal fluid, egg development, and oviposition have negligible cost in terms of female survival. Only exposure to males without insemination decreased female survival, Nonetheless, if exposure to males under natural conditions is also associated with reduced survival, it might explain why females remain monogamous.
Frontal nasal prominence expression driven by Tcfap2a relies on a conserved binding site for STAT proteins

The AP‐2 transcription factor family is linked with development of the head and limbs in both vertebrate and invertebrate species. Recent evidence has also implicated this gene family in the evolution of the neural crest in chordates, a critical step that allowed the development and elaboration of the vertebrate craniofacial skeleton. In mice, the inappropriate embryonic expression of one particular AP‐2 gene, Tcfap2a, encoding AP‐2α, results in multiple developmental abnormalities, including craniofacial and limb defects. Thus, Tcfap2a provides a valuable genetic resource to analyze the regulatory hierarchy responsible for the evolution and development of the face and limbs. Previous studies have identified a 2‐kilobase intronic region of both the mouse and human AP‐2α locus that directs expression of a linked LacZ transgene to the facial processes and the distal mesenchyme of the limb bud in transgenic mice. Further analysis identified two highly conserved regions of ∼200–400 bp within this tissue‐specific enhancer. We have now initiated a transgenic and biochemical analysis of the most important of these highly conserved regions. Our analysis indicates that although the sequences regulating face and limb expression have been integrated into a single enhancer, different cis‐acting sequences ultimately control these two expression domains. Moreover, these studies demonstrate that a conserved STAT binding site provides a major contribution to the expression of Tcfap2a in the facial prominences. Developmental Dynamics 235:1358–1370, 2006. © 2006 Wiley‐Liss, Inc.
RETINAL VASCULAR NONPERFUSION AND RETINAL NEOVASCULARIZATION AS A CONSEQUENCE OF CYTOMEGALOVIRUS RETINITIS AND CRYPTOCOCCAL CHOROIDITIS

Background Cytomegalovirus retinitis and cryptococcal choroiditis are opportunistic infections in patients with acquired immune deficiency syndrome. These infections are associated with a retinal vasculitis and vascular attenuation. Methods We present a case of retinal vascular nonperfusion and retinal neovascularization in a patient with acquired immune deficiency syndrome. Results Retinal vascular nonperfusion and retinal neovascularization were confirmed by fluorescein angiography. Conclusions This is the first reported case of retinal neovascularization in a patient with acquired immune deficiency syndrome, ocular cytomegalovirus retinitis, and cryptococcal infection.
Genome and proteome of Listeria monocytogenes phage PSA: an unusual case for programmed + 1 translational frameshifting in structural protein synthesis

PSA is a temperate phage isolated from Listeria monocytogenes strain Scott A. We report its complete nucleotide sequence, which consists of a linear 37 618 bp DNA featuring invariable, 3′‐protruding single stranded (cohesive) ends of 10 nucleotides. The physical characteristics were confirmed by partial denaturation mapping and electron microscopy of DNA molecules. Fifty‐seven open reading frames were identified on the PSA genome, which are apparently organized into three major transcriptional units, in a life cycle‐specific order. Functional assignments could be made to 33 gene products, including structural proteins, lysis components, DNA packaging proteins, lysogeny control functions and replication proteins. Bioinformatics demonstrated relatedness of PSA to phages infecting lactic acid bacteria and other low G + C Gram‐positives, but revealed only few similarities to Listeria phage A118. Virion proteins were analysed by amino acid sequencing and mass spectrometry, which enabled identification of major capsid and tail proteins, a tape measure and a putative portal. These analyses also revealed an unusual form of translational frameshifting, which occurs during decoding of the mRNAs specifying the two major structural proteins. Frameshifting yields different length forms of Cps (gp5) and Tsh (gp10), featuring identical N‐termini but different C‐termini. Matrix‐assisted laser‐desorption ionization mass spectrometry (MALDI‐MS) and electrospray ionization mass spectrometry (ESI‐MS) of tryptic peptide fragments was used to identify the modified C‐termini of the longer protein species, by demonstration of specific sequences resulting from + 1 programmed translational frameshifting. A slippery sequence with overlapping proline codons near the 3′ ends of both genes apparently redirects the ribosomes and initiates the recoding event. Two different cis‐acting factors, a shifty stop and a pseudoknot, presumably stimulate frameshifting efficiency. PSA represents the first case of + 1 frameshifting among dsDNA phages, and appears to be the first example of a virus utilizing a 3′ pseudoknot to stimulate such an event.
South–South relations under world market capitalism: the state and the elusive promise of national development in the China–Ecuador resource-development nexus

ABSTRACT Optimistic commentators welcome ‘the rise of the South’ as a phenomenon that will transform geopolitical architectures and development thought. This essay situates this alleged rise and ‘South–South relations’ within world market capitalism and discusses their liberating potential with a case study of Chinese mining investment in Ecuador. Despite the ostensibly differing approaches to development embodied in the Chinese and Ecuadorian alternatives to neoliberalism, the Mirador project reveals eerily familiar outcomes, dominated by visions of national modernization and business-state alliances that reproduce market inequalities and postcolonial exclusions. While the Mirador project grants significant economic clout to pursue development through redistributive means, it also attests to the role of the state in opening new market frontiers and securing conditions for transnational capital accumulation. I argue that in this context and similar ones, it is problematic to project the attributes of the South as a symbol of struggle for emancipation on to the nation-state. Although the South remains a useful concept, it should be understood as a space made up by those who are subject to diverse forms of oppression in the name of globalization and national development – a space that is reshaped by the works of the state in multiple and often contradictory ways.
Active Monetary or Fiscal Policy and Stock-Bond Correlation

We propose a New Keynesian model with monetary-fiscal policy regime switch to explain the time-varying correlation between returns on the market portfolio and nominal Treasury bonds found in the data. In the active monetary and passive fiscal policy (AMPF) regime, neutral technology (NT) and marginal efficiency of investment (MEI) shocks are the most important drivers of economic fluctuations and the stock-bond correlation. In the passive monetary and active fiscal policy (PMAF) regime, the effect of the NT shock is depressed due to the weak reaction of short-term nominal interest rate to inflation, while the effect of the MEI shock remains strong. Because the NT shock leads to positive stock-bond correlation in the AMPF regime, while the MEI shock leads to negative correlation in the PMAF regime, our model provides a coherent explanation for the negative correlation between the market portfolio and long-term nominal Treasury bond returns during 1950s and 2000s when the fiscal policies are active, and for the positive correlation during 1980-2000 when monetary policies are active.
Voters without a Party: The ‘Long Decade’ of the Italian Centre-Right and its Uncertain Future

Abstract Following the corruption scandals of the early 1990s, the birth of the electoral coalition led by Silvio Berlusconi, and its occupation of government in 1994, 2001 and 2008, was interpreted by many as a sign of a new era of success for the Italian centre-right. Yet, after narrowly losing the 2013 national elections, the centre-right appears to have fallen into a political abyss. While opinion polls suggest that its potential electorate is still wide, the former allies that made up the coalition have been fragmented and weakened by a series of splits, leaving the centre-right divided into a more moderate component and an openly populist one. The centre-right’s old ruling elites have lost credibility, but the new younger leaders, like Matteo Salvini and Giorgia Meloni, are not able to re-unify the former coalition. The centre-right has been riven by several factors that explain its difficulties during the decade of the economic crisis: the personalisation of its leadership, factionalism, a divergence of programmes, a failure of institutionalisation and ongoing corruption and legal problems. These factors also look set to condition its political future.
Pulmonary Bioavailability of Ascorbic Acid in an Ascorbate-synthesising Species, the Horse

Vitamin C (ascorbic acid) is a non-enzymatic antioxidant important in protecting the lung against oxidative damage and is decreased in lung lining fluid of horses with airway inflammation. To examine possible therapeutic regimens in a species with ascorbate-synthesising capacity, we studied the effects of oral supplementation of two forms of ascorbic acid, (each equivalent to 20 mg ascorbic acid per kg body weight) on the pulmonary and systemic antioxidant status of six healthy ponies in a 3 2 3 Latin square design. Two weeks supplementation with ascorbyl palmitate significantly increased mean plasma ascorbic acid concentrations compared to control (29 - 5 and 18 - 7 w mol/l, respectively; p <0.05 ). Calcium ascorbyl-2-monophosphate, a more stable form of ascorbic acid, also increased mean plasma ascorbic acid concentrations, but not significantly (23 - 1 w mol/l; p =0.07 ). The concentration of ascorbic acid in bronchoalveolar lavage fluid increased in five out of six ponies following supplementation with either ascorbyl palmitate or calcium ascorbyl-2-monophosphate compared with control (30 - 10, 25 - 4 and 18 - 8 w mol/l, respectively; p <0.01 ). Neither supplement altered the concentration of glutathione, uric acid or f -tocopherol in plasma or bronchoalveolar lavage fluid. In conclusion, the concentration of lung lining fluid ascorbic acid is increased following ascorbic acid supplementation (20 mg/kg body weight) in an ascorbate-synthesising species.
Transcriptional Modulation of Penicillin-Binding Protein 1b, Outer Membrane Protein P2 and Efflux Pump (AcrAB-TolC) during Heat Stress Is Correlated to Enhanced Bactericidal Action of Imipenem on Non-typeable Haemophilus influenzae

Objective: The purpose of the present study was to investigate the penicillin binding proteins (PBPs), drug influx and efflux modulations during heat stress and their effects on the bactericidal action of imipenem on non-typeable Haemophilus influenzae (NTHi). Methods: The two NTHi clinical isolates (GE47 and GE88, imipenem MICs by E-test > 32 μg/mL) examined in this study were collected at Geneva University Hospitals. The imipenem killing activity was assessed after incubation of the NTHi strains at either 37 or 42°C for 3 h with increasing concentrations of imipenem. The detection of PBPs was carried out by Bocillin-FL. Global transcriptional changes were monitored by RNA-seq after pre-incubation of bacterial cells at either 37 or 42°C, and the expression levels of relevant target genes were confirmed by qRT-PCR. Results: Quantitation of NTHi viable cells after incubation with 0.25 μg/mL of imipenem for 3 h revealed more than a twofold decrease in GE47 and GE88 viable cells at 42°C as compared to 37°C. Transcriptome analysis showed that under heat stress conditions, there were 141 differentially expressed genes with a | log2(fold change)| > 1, including 67 up-regulated and 74 down-regulated genes. The expression levels of ponB (encoding PBP1b) and acrR (regulator of AcrAB-TolC efflux pump) were significantly increased at 42°C. In contrast, the transcript levels of ompP2 (encoding the outer membrane protein P2) and acrB gene (encoding AcrB) were significantly lower under heat stress condition. Conclusion: This study shows that the transcriptional modulation of ponB, ompP2, acrR, and acrB in the heat stress response is correlated to enhanced antimicrobial effects of imipenem on non-typeable H. influenzae.
A practical Approach Based on Gaussianization for Post-Nonlinear Underdetermined BSS

This work deals with the blind source separation (BSS) problem in presence of more sources than sensors and post-non linear (PNL) mixing. The interest on the subject is increased by the fact that very few related contributions have appeared in the literature so far. The proposed method is made of three separate steps: compensation of nonlinearity (based on the Gaussianization concept), mixing matrix recovery and final unknown source estimation. The first one has been already considered for nonlinear complete BSS, but not in the over-complete case, whereas the latter two represent the typical two-step approach in underdetermined BSS. Performed computer simulations have shown the effectiveness of the idea, even in presence of strong nonlinearities and synthetic mixture of real world data (like speech signals)
Voluntary pulmonary function screening identifies high rates of undiagnosed asymptomatic chronic obstructive pulmonary disease

Chronic obstructive pulmonary disease (COPD) is projected to be the third leading cause of death by 2020. Early detection and screening may alter the course and prognosis associated with lung disease. We investigated the effectiveness of a voluntary public lung function screening program and factors that had a predictive value for asymptomatic COPD in Xi’an, China. Pulmonary function testing (PFT) was conducted on volunteers recruited from four community centers in Xi’an, China, between July and August 2012. Participants underwent three forced vital capacity maneuvers. The maneuver with the best forced expiratory volume in first second was retained. Participants filled out a medical history and environmental exposure survey before undergoing the PFT. Patients who self-reported lung disease on the health survey were excluded from the analysis. Logistical regression was used to determine associations with airway obstruction. A total of 803 volunteers participated in this study, and 33 subjects were excluded as the participants did not meet the requirements of PFT. Of the 770 volunteers, 44 participants had been diagnosed with chronic respiratory diseases previously, and 144 participants (18.7%) met COPD criteria. Four hundred forty-four participants did not self-report any respiratory symptoms, and the remaining 282 participants self-reported respiratory symptoms. Of the asymptomatic participants, 98 volunteers had PFT results that were consistent with COPD and 68.1% of asymptomatic participants were undiagnosed. A greater percentage of women than men had moderate or severe airway obstruction (p = 0.004). Only smoking status (odds ratio = 2.64, 95% confidence interval 1.20–6.04) was associated with asymptomatic COPD. Voluntary public lung function screening programs in China are likely to identify a large number of undiagnosed, asymptomatic COPD. Smoking status is associated with airway obstruction and a greater percentage of women than men had moderate or severe airway obstruction.
Protection against loss of innate defenses in adulthood by low advanced glycation end products (AGE) intake: role of the antiinflammatory AGE receptor-1.

CONTEXT Increased oxidant stress and inflammation (OS/infl) are linked to both aging-related diseases and advanced glycation end products (AGEs). Whereas AGE receptor-1 (AGER1) reduces OS/infl in animals, this has not been assessed in normal humans. OBJECTIVE The objectives of the study were to determine whether AGER1 correlates with AGEs and OS/infl and a reduction of dietary AGEs (dAGEs) lowers OS/infl in healthy adults and chronic kidney disease (CKD-3) patients. DESIGN This study was cross-sectional with 2-yr follow-up studies of healthy adults and CKD-3 patients, a subset of which received a reduced AGE or regular diet. SETTING The study was conducted at general community and renal clinics. PARTICIPANTS Participants included 325 healthy adults (18-45 and >60 yr old) and 66 CKD-3 patients. INTERVENTION An isocaloric low-AGE (30-50% reduction) or regular diet was given to 40 healthy subjects for 4 months and to nine CKD-3 patients for 4 wk. MAIN OUTCOME Relationships between age, dAGEs, serum AGEs, peripheral mononuclear cell AGE-receptors, and OS/Infl before and after reduction of dAGE intake were measured. RESULTS AGEs, oxidant stress, receptor for AGE, and TNFalpha were reduced in normal and CKD-3 patients after the low-AGE diet, independently of age. AGER1 levels in CKD-3 patients on the low-AGE diet resembled 18- to 45-yr-old normal subjects. Dietary, serum, and urine AGEs correlated positively with peripheral mononuclear cell AGER1 levels in healthy participants. AGER1 was suppressed in CKD-3 subjects, whereas receptor for AGE and TNFalpha were increased. CONCLUSIONS Reduction of AGEs in normal diets may lower oxidant stress/inflammation and restore levels of AGER1, an antioxidant, in healthy and aging subjects and CKD-3 patients. AGE intake has implications for health outcomes and costs and warrants further testing.
Herpesviral-bacterial interrelationships in aggressive periodontitis.

BACKGROUND Recent findings have begun to provide a basis for a causal link between herpesviruses and aggressive periodontitis. One theory is that herpesviruses cooperate with specific bacteria in the etiopathogenesis of the disease. This study examined whether the presence of herpesviruses [human cytomegalovirus (HCMV), Epstein-Barr virus (EBV) type 1, herpes simplex virus (HSV) type 1 and 2] is associated with the presence of putative pathogenic bacteria (Porphyromonas gingivalis, Prevotella intermedia, Tannerella forsythia, Campylobacter rectus, Actinobacillus actinomycetemcomitans) in aggressive periodontitis lesions. METHODS The study included 18 young adults with advanced periodontitis and 16 periodontally healthy subjects from Ankara, Turkey. Subgingival specimens pooled from two sites in each subject were collected by a periodontal curette. Qualitative polymerase chain reaction methodology was used to identify herpesviruses and bacteria. Chi-square tests were employed to determine statistical associations among herpesviruses, bacteria and periodontal disease. RESULTS HCMV, EBV-1 and HSV-1 were each detected in 72-78% of the aggressive periodontitis patients. HSV-2 occurred in 17% of the periodontitis patients. EBV-1 was detected in one periodontally healthy subject. The study bacteria occurred in 78-83% (P. gingivalis, T. forsythia, C. rectus) and in 44% (P. intermedia, A. actinomycetemcomitans) of the periodontitis samples, and in 0-19% of the samples from healthy periodontal sites. HCMV, EBV-1 and HSV-1 were positively associated with P. gingivalis, P. intermedia, T. forsythia and C. rectus, but not with A. actinomycetemcomitans. HSV-2 was not associated with any test bacteria. CONCLUSIONS These results support the notion that the clinical outcome of some types of severe periodontal infection depends on the presence of specific herpesviruses and bacterial pathogens. Our findings open the door to testing a variety of hypotheses regarding the deleterious aspects of combined herpesviral-bacterial infections in periodontal sites.