985 research outputs found

    Effects of Developmental Training of Basketball Cadets Realised in the Competitive Period

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    The analysis of effects of a two-month developmental training cycle realised within a basketball season revealed statistically significant positive changes at the multivariate level in components of motor-functional conditioning (fitness) status of the sample of talented basketball cadets (15–16 years). The greatest correlations with discriminant function were found in variables with statistically significant changes at the univariate level, more explicitly in variables of explosive and repetitive power of the upper body and trunk, anaerobic lactic endurance, as well as in jumping type explosive leg power. The presented developmental conditioning training programme, although implemented within the competitive period, induced multiple positive fitness effects between the two control time points in this sample of basketball players. The authors suggest that, to assess power of shoulders and upper back, the test overgrip pull-up should not be applied to basketball players of this age due to its poor sensitivity. Instead, they propose the undergrip pull-up test , which is a facilitated version of the same test. The results presented in this article reinforce experienced opinion of experts that, in the training process with youth teams, the developmental conditioning training programme is effectively applicable throughout the entire competitive season. The proposed training model is a system of various training procedures, operating synergistically, aimed at enhancing integral fitness (preparedness) of basketball players. Further investigations should be focused on assessing effects of both the proposed and other developmental training cycle programmes, by means of assessing and monitoring actual quality (overall performance) of players, on the one hand, and, on the other, by following-up hormonal and biochemical changes over multiple time points

    A qualitative study of overdose responses among Chicago IDUs

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    This is an Open Access article distributed under the terms of the Creative Commons Attribution Licens

    Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.

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    Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To date, mutations in five genes have been linked to PFBC. However, more than 50% of individuals affected by PFBC have no molecular diagnosis. We report four unrelated families presenting with initial learning difficulties and seizures and later psychiatric symptoms, cerebellar ataxia, extrapyramidal signs, and extensive calcifications on brain imaging. Through a combination of homozygosity mapping and exome sequencing, we mapped this phenotype to chromosome 21q21.3 and identified bi-allelic variants in JAM2. JAM2 encodes for the junctional-adhesion-molecule-2, a key tight-junction protein in blood-brain-barrier permeability. We show that JAM2 variants lead to reduction of JAM2 mRNA expression and absence of JAM2 protein in patient's fibroblasts, consistent with a loss-of-function mechanism. We show that the human phenotype is replicated in the jam2 complete knockout mouse (jam2 KO). Furthermore, neuropathology of jam2 KO mouse showed prominent vacuolation in the cerebral cortex, thalamus, and cerebellum and particularly widespread vacuolation in the midbrain with reactive astrogliosis and neuronal density reduction. The regions of the human brain affected on neuroimaging are similar to the affected brain areas in the myorg PFBC null mouse. Along with JAM3 and OCLN, JAM2 is the third tight-junction gene in which bi-allelic variants are associated with brain calcification, suggesting that defective cell-to-cell adhesion and dysfunction of the movement of solutes through the paracellular spaces in the neurovascular unit is a key mechanism in CNS calcification

    Transmission of HIV-1 infection in sub-Saharan Africa and effect of elimination of unsafe injections

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    During the past year, a group has argued that unsafe injections are a major if not the main mode of HIV-1 transmission\ud in sub-Saharan Africa. We review the main arguments used to question the epidemiological interpretations on the lead\ud role of unsafe sex in HIV-1 transmission, and conclude there is no compelling evidence that unsafe injections are a\ud predominant mode of HIV-1 transmission in sub-Saharan Africa. Conversely, though there is a clear need to eliminate\ud all unsafe injections, epidemiological evidence indicates that sexual transmission continues to be by far the major\ud mode of spread of HIV-1 in the region. Increased efforts are needed to reduce sexual transmission of HIV-1

    Neural correlates of enhanced visual short-term memory for angry faces: An fMRI study

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    Copyright: © 2008 Jackson et al.Background: Fluid and effective social communication requires that both face identity and emotional expression information are encoded and maintained in visual short-term memory (VSTM) to enable a coherent, ongoing picture of the world and its players. This appears to be of particular evolutionary importance when confronted with potentially threatening displays of emotion - previous research has shown better VSTM for angry versus happy or neutral face identities.Methodology/Principal Findings: Using functional magnetic resonance imaging, here we investigated the neural correlates of this angry face benefit in VSTM. Participants were shown between one and four to-be-remembered angry, happy, or neutral faces, and after a short retention delay they stated whether a single probe face had been present or not in the previous display. All faces in any one display expressed the same emotion, and the task required memory for face identity. We find enhanced VSTM for angry face identities and describe the right hemisphere brain network underpinning this effect, which involves the globus pallidus, superior temporal sulcus, and frontal lobe. Increased activity in the globus pallidus was significantly correlated with the angry benefit in VSTM. Areas modulated by emotion were distinct from those modulated by memory load.Conclusions/Significance: Our results provide evidence for a key role of the basal ganglia as an interface between emotion and cognition, supported by a frontal, temporal, and occipital network.The authors were supported by a Wellcome Trust grant (grant number 077185/Z/05/Z) and by BBSRC (UK) grant BBS/B/16178

    Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

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    Purpose: Despite the recognized clinical value of exome-based diagnostics, methods for comprehensive genomic interpretation remain immature. Diagnoses are based on known or presumed pathogenic variants in genes already associated with a similar phenotype. Here, we extend this paradigm by evaluating novel bioinformatics approaches to aid identification of new gene–disease associations. Methods: We analyzed 119 trios to identify both diagnostic genotypes in known genes and candidate genotypes in novel genes. We considered qualifying genotypes based on their population frequency and in silico predicted effects we also characterized the patterns of genotypes enriched among this collection of patients. Results: We obtained a genetic diagnosis for 29 (24%) of our patients. We showed that patients carried an excess of damaging de novo mutations in intolerant genes, particularly those shown to be essential in mice (P = 3.4 × 10−8). This enrichment is only partially explained by mutations found in known disease-causing genes. Conclusion: This work indicates that the application of appropriate bioinformatics analyses to clinical sequence data can also help implicate novel disease genes and suggest expanded phenotypes for known disease genes. These analyses further suggest that some cases resolved by whole-exome sequencing will have direct therapeutic implications

    The Functional DRD3 Ser9Gly Polymorphism (rs6280) Is Pleiotropic, Affecting Reward as Well as Movement

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    Abnormalities of motivation and behavior in the context of reward are a fundamental component of addiction and mood disorders. Here we test the effect of a functional missense mutation in the dopamine 3 receptor (DRD3) gene (ser9gly, rs6280) on reward-associated dopamine (DA) release in the striatum. Twenty-six healthy controls (HCs) and 10 unmedicated subjects with major depressive disorder (MDD) completed two positron emission tomography (PET) scans with [11C]raclopride using the bolus plus constant infusion method. On one occasion subjects completed a sensorimotor task (control condition) and on another occasion subjects completed a gambling task (reward condition). A linear regression analysis controlling for age, sex, diagnosis, and self-reported anhedonia indicated that during receipt of unpredictable monetary reward the glycine allele was associated with a greater reduction in D2/3 receptor binding (i.e., increased reward-related DA release) in the middle (anterior) caudate (p<0.01) and the ventral striatum (p<0.05). The possible functional effect of the ser9gly polymorphism on DA release is consistent with previous work demonstrating that the glycine allele yields D3 autoreceptors that have a higher affinity for DA and display more robust intracellular signaling. Preclinical evidence indicates that chronic stress and aversive stimulation induce activation of the DA system, raising the possibility that the glycine allele, by virtue of its facilitatory effect on striatal DA release, increases susceptibility to hyperdopaminergic responses that have previously been associated with stress, addiction, and psychosis

    Reakcija β-amino-α,γ-dicianokrotononitrila s acetofenonom: sinteza derivata piridina, piridazina i tiofena s antimikrobnim djelovanjem

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    Condensation of β-amino-α,γ-dicyanocrotononitrile (1) with acetophenone gave the 2-amino-4-phenylpenta-1,3-diene-1,1,3-tricarbonitrile (2). The latter product was used in a series of heterocyclization reactions when react with different reagents like diazonium salts, hydrazines, hydroxylamine and elemental sulfur to give pyridazine, pyrazole, isoxazole and thiophene derivatives, respectively. On the other hand, it gave pyridine derivatives with aromatic aldehydes followed by reaction with cyanomethylene reagents. The MIC values for the newly synthesized product were measured against E. coli, B. cereus, B. subtilis and C. albicansKondenzacijom β-amino-α,γ-dicijanokrotononitrila 1 s acetofenonom dobiven je 2-amino-4-fenilpenta-1,3-dien-1,1,3-trikarbonitril (2) koji je upotrebljen u reakcijama heterociklizacije s različitim reagensima poput diazonijevih soli, hidrazina, hidroksilamina i elementarnog sumpora pri čemu su nastali derivati piridazina, pirazola, izoksazola, odnosno tiofena. Spoj 2 je u reakciji s aromatskim aldehidima te naknadno sa cijanometilenima dao derivate piridina. Određene su MIC vrijednosti za novosintetizirane spojeve protiv E. coli, B. cereus, B. subtilis i C. albicans

    НЕ СВЯЗАННЫE С ВИЧ-ИНФЕКЦИЕЙ ЗАБОЛЕВАНИЯ И ПРИЧИНЫ СМЕРТИ СРЕДИ ВИЧ-ПОЗИТИВНЫХ ПАЦИЕНТОВ В САНКТ-ПЕТЕРБУРГЕ И ЛЕНИНГРАДСКОЙ ОБЛАСТИ

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    With the aim of an evaluation of the prevalence of non-AIDS-defining illnesses and causes of death in HIVinfected patients 111 medical records of subjects admitted to the specialized hospitals in St. Petersburg in 2001–2008,were analyzed retrospectively. The most frequent non-AIDSdefining illnesses in HIV-infected patients in the era of the absence of the systematical antiretroviral therapy are gastrointestinal diseases. HIV-infected patients mostly die from generalized tuberculosis and chronic viral hepatitis at the End-Stage liver cirrhosis. To properly evaluate the preavalnce of Non-HIV-related diseases and causes of death in HIV-infected people in St. Petersburg and Leningrad region we need to conduct prospective cohort study in comparison with general population.С целью изучения распространенности не связанных с ВИЧ-инфекцией заболеваний и определения основных причин смерти среди больных ВИЧ-инфекцией были ретроспективно оценены 111 историй болезни пациентов, поступивших в специализированные стационары в Санкт-Петербурге за 2001–2008 гг. Наиболее частой сопутствующей патологией среди больных ВИЧ-инфекцией в эру отсутствия широкого применения антиретровирусной терапии являются заболевания желудочно-кишечного тракта. Больные ВИЧ-инфекцией умирают преимущественно от генерализованного туберкулеза и хронических вирусных гепатитов в цирротической стадии. Для полноценной оценки распространенности и спектра не связанных с ВИЧ-инфекцией заболеваний и изучения причин смерти среди ВИЧ-позитивных лиц в Санкт-Петербурге и Ленинградской области необходимо проведение проспективного когортного исследования в сравнении с общей популяцией
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