Miracle-dz/UniFAR-FTUs huggingface dataset:
Isolation and characterization of thirteen polymorphic microsatellite loci in the A‐genome perennial group of the legume genus Glycine

Thirteen polymorphic microsatellite loci were developed for the closely related and reproductively compatible species comprising the A‐genome perennial group of the legume genus Glycine. Primers developed from the widespread and isozymically differentiated G. canescens amplified successfully across G. clandestina and four other species within the complex. Species were highly polymorphic, and observed heterozygosities were extremely low for all loci, as expected for these predominantly autogamous taxa. These markers will be useful in studying genetic variation, population structure, gene flow, and polyploidy within the A‐genome group.
Association of nonalcoholic fatty liver disease with a single nucleotide polymorphism on the gene encoding leptin receptor

Leptin (Lep), a 16‐kDa polypeptide hormone, exerts its action through the leptin receptor (LepRb), a member of the class I cytokine receptor family. Both leptin and LepRb probably have been implicated in pathogenesis of nonalcoholic fatty liver disease (NAFLD). This study was designed to assess the role of soluble leptin and LepRb in NAFLD and to investigate whether leptin receptor gene (LepR) single nucleotide polymorphism (SNP; ID rs6700896) influences NAFLD complicated with or without type 2 diabetes mellitus (T2DM). Blood samples from 90 obese NAFLD cases and 30 lean controls of matched age and sex were recruited in the study. Among the NAFLD patients, 32 were T2DM. Plasma leptin and LepRb levels were measured by enzyme linked immunoassay (ELISA). Lipids profile, glucose metabolic parameters, and insulin concentration were measured for all participants. Body mass index (BMI) and insulin resistance (IR) were calculated as well. Genotyping was done using SNP (rs6700986) for LepR gene. Significant difference was reported between NAFLD with or without T2DM and control regarding biochemical markers and LepR genotype and allele frequencies. Mutant homozygous and heterozygous LepR genotype and mutant allele were significantly higher in mild–severe steatosis and in NAFLD with T2DM when compared with mild steatosis and those without T2DM. Frequencies of mutant LepR polymorphism were significantly associated with IR increment. Elevated leptin level seems to be a feature of steatosis, and it appears to increase as hepatocyte steatosis develops. Moreover, polymorphism of LepR gene contributes to the onset of NAFLD by regulating lipid metabolism and affecting insulin sensitivity. © 2011 IUBMB Life,, 2011.
Neurodevelopmental delay in children infected with human immunodeficiency virus in Soweto, South Africa

HIV in children is a serious and growing problem in sub-Saharan Africa. At present very little is known about the neurological complications of human immunodeficiency virus (HIV)-infected children in South Africa. The aim of this study was to determine the extent and prevalence of neurodevelopmental delay in a group of HIV-positive children in Soweto, South Africa, as well as to determine what factors were predictive of neurodevelopmental delay. One hundred and twenty-two consecutive HIV-positive children under 2.5 years of age were assessed using the Bayley Scales of Infant Development II. Ethical approval and informed consent were obtained prior to testing. The children assessed in this study were extremely delayed in both motor and cognitive development. Seventy-two per cent of the children had severe motor delay and 52% had severe cognitive delay. The mean age of the children was 18.5 months (±8.1). The mean CD4 count was 14.4% (±8.8) and only 16% of the children were receiving highly active antiretroviral therapy (HAART). Weight, height and head circumference Z‐scores were also very low in this group of children, with both stunting and wasting being extremely common. Neurodevelopmental delay was very common in this group of children. Motor development was affected more severely than cognitive development. Weight-for-age, age and whether the child was on HAART were the most important factors in predicting cognitive and motor development. Poverty and poor socioeconomic status of families of HIV-infected children may well be additional developmental risk factors.
Demographically corrected normative data for the Hopkins Verbal Learning Test-Revised and Brief Visuospatial Memory Test-Revised in an elderly sample

ABSTRACT Demographic variables, such as age, education, and gender, routinely affect performance on neuropsychological tests. Whereas normative data are available to correct for these variables on many tests, data are lacking on the Hopkins Verbal Learning Test-Revised (HVLT-R) and Brief Visuospatial Memory Test-Revised (BVMT-R), especially in the elderly. The current study examined the influence of age, education, and gender on HVLT-R and BVMT-R scores in 290 cognitively intact older adults. Age negatively correlated with nearly every score on the HVLT-R and BVMT-R, and education positively correlated with most scores on these same 2 memory tests. There were fewer gender differences on these tests. Using stepwise multiple regression, HVLT-R and BVMT-R scores were predicted from age, education, and/or gender. When observed scores are compared to these demographically adjusted predicted scores, clinicians can make assumptions about how an individual compared to his/her age-, education-, and gender-matched peers. The current conorming of these 2 memory tests also allows for direct comparison between verbal and visual memory in older patients.
Parallel Picture-Naming Tests: Development and Psychometric Properties for Farsi-Speaking Adults

ABSTRACT The present study describes the development and validation of two parallel picture-naming tests (PPNTs) as neuropsychological tools for evaluating word retrieval disorders in Farsi-speaking adults with and without aphasia. The development phase used the distributions of psycholinguistic variables (word frequency or age of acquisition) to select test items. Each parallel test consists of 109 line-drawings assigned to concrete nouns that were arranged in order of increasing difficulty. Assessment of content validity indicated that all items were quite or highly relevant and clear. The psychometric features were tested on 30 normal adults and 10 matched individuals with aphasia. The results showed appropriate criterion validity. Parallel tests allowed discrimination by subjects with and without naming difficulties. The tests were internally consistent. Each test form showed reasonable test-retest reliability. The correlation between the scores from both test forms indicated good parallel reliability. The cut-off point at which the tests reached the highest level of sensitivity and specificity was observed to be 86 correct responses. The percentage of correct responses for each item correlated strongly with frequency, age of acquisition, and name agreement. The overall findings support the validity and reliability of the PPNTs and suggest that these tests are appropriate for use in research and for clinical purposes.
The use of high‐resolution melting analysis for genotyping Symbiodinium strains: a sensitive and fast approach

High‐resolution melting (HRM) analysis is a closed‐tube, rapid and sensitive technique able to detect DNA variations. It relies on the fluorescence melting curves that are obtained from the transition of double‐stranded DNA (dsDNA) to single‐stranded DNA (ssDNA) as a result of temperature increase. In this study, we evaluated the effectiveness of HRM as a tool to rapidly and precisely genotype monotypic Symbiodinium populations using the internal transcribed spacer, region 2, ribosomal DNA (ITS2 rDNA). For this, Symbiodinium denaturing gradient gel electrophoresis (DGGE) profiles, where gel bands were excised and sequenced, were compared to HRM genotypes. Results showed that twenty cultures were correctly genotyped in <2 h using HRM analysis with a percentage of confidence >90%. Limitations of the technique were also investigated. Unlike other techniques used for genotyping Symbiodinium, such as DGGE and other fingerprint profiles, HRM is a technique of great advantage for field coral reef ecologists and physiologists as no expertise in advanced molecular methods is required.
Application of SNPs for population genetics of nonmodel organisms: new opportunities and challenges

Recent improvements in the speed, cost and accuracy of next generation sequencing are revolutionizing the discovery of single nucleotide polymorphisms (SNPs). SNPs are increasingly being used as an addition to the molecular ecology toolkit in nonmodel organisms, but their efficient use remains challenging. Here, we discuss common issues when employing SNP markers, including the high numbers of markers typically employed, the effects of ascertainment bias and the inclusion of nonneutral loci in a marker panel. We provide a critique of considerations specifically associated with the application and population genetic analysis of SNPs in nonmodel taxa, focusing specifically on some of the most commonly applied methods.
Cognitive map recall test: A new specific test to assess topographical disorientation

ABSTRACT Topographical disorientation, the inability to orient in a well-known environment, is a very incapacitating syndrome. Despite its relatively high frequency after a right cerebral lesion, there is currently no specific neuropsychological test to assess it. We propose a completely new test, with preliminary normative data, assessing the subjects’ ability to recall allocentric spatial information from their cognitive map. The subjects are asked to mentally compare distances and directions between landmarks in their familiar environment. This necessitates creating an individual version of the test tailored to every participant’s knowledge. This task was proposed to 53 patients with a right lesion and a control group (N = 133). We evaluated performance at comparing distances and directions, and the impact of sociodemographic variables (age, gender, and education). Results show that a right cerebral lesion leads to difficulties in evoking and comparing allocentric spatial information, and more specifically in judging directions. Furthermore, the results show an impact of age, but not gender nor education, on recalling information from a cognitive map. Although there are some intrinsic difficulties (for example in creating patient-specific versions of the test), preliminary normative data indicate that this original test is workable and provides important information in assessing topographical disorientation in clinical practice.
Two highly validated multiplexes (12‐plex and 8‐plex) for species delimitation and parentage analysis in oaks (Quercus spp.)

Multiplex PCR is a fast and cost‐effective technique allowing increased genotyping throughput of microsatellites. We developed two multiplexes for Quercus petraea and Q. robur, a 12‐plex of EST‐SSRs (eSSRs) and an 8‐plex of genomic SSRs (gSSRs). We studied the origin of allele calling errors at the human reader and software levels. We showed that the robustness of allele identification can be improved by binning on raw peak sizes prior to genetic data analysis. We checked through simulation the power of these markers for species delimitation and hybrid detection. The resolution achieved with all 20 markers was greatly improved compared to that of previous studies based on a subset of the markers. Preliminary PCR tests suggest that these multiplexes might be useful to study other oak species as well. The strategy used for multiplex microsatellite development (from PCR conditions to the definition of allele calling rules) should be broadly applicable.
Making Universal Health Care Effective in Argentina: A Blueprint for Reform

Abstract The reform of a health care system requires attention to specific components but also to the creation of an environment that supports change. Argentina has achieved nominal universal health coverage (UHC) but it still needs to work on achieving effective universal health coverage, especially with regard to quality and equity. Nominal coverage means that everyone has been enrolled and has the right to access, and effective coverage means that people have actually received prioritized health care services. In this article, we present our proposals to advance UHC in Argentina. The article includes an overview of Argentina’s health system, then introduces the driving forces for reform, and finally analyzes four key issues where we provide our action plan to implement health reform for moving Argentina forward. Overall, our ultimate goal is to provide actual UHC and not aspirational UHC in Argentina by strengthening provincial health systems through enforcing public insurance schemes; utilizing an explicit priority-setting approach to make decisions on health coverage; reducing health disparities in coverage and outcomes, at least on prioritized health problems; and building a primary care–oriented health care system.
Regulation of thermoTRPs by lipids

ABSTRACT The family of Transient Receptor Potential (TRP) ion channels is constituted by 7 subfamilies among which are those that respond to temperature, the thermoTRPs. These channels are versatile molecules of a polymodal nature that have been shown to be modulated in various fashions by molecules of a lipidic nature. Some of these molecules interact directly with the channels on specific regions of their structures and some of these promote changes in membrane fluidity or modify their gating properties in response to their agonists. Here, we have discussed how some of these lipids regulate the activity of thermoTRPs and included some of the available evidence for the molecular mechanisms underlying their effects on these channels.
Die „Co-Maintenance” mit Propofol und Midazolam: Sympatho-adrenerge Reaktionen, Kreislaufeffekte, Stressreaktion, EEG und Aufwachverhalten

Objective: The study was undertaken to investigate the influence of TIVA with propofol, midazolam and fentanyl (comaintenance, COM-group) or TIVA with propofol and fentanyl (control-group) on sympathoadrenergic and hemodynamic reactions, stress response, EEG and recovery. Methods: After ethical approval, 2 × 20 patients of ASA-risk I-III over 55 years of age undergoing visceral surgery were investigated in a prospective randomized design. For induction of anesthesia, patients of the COM-group received 0,05 mg/kg BW midazolam und 1,0 mg/kg BW propofol, and anesthesia was maintained with 0,05 mg/kg BW/h midazolam (until 15 -30 min before the end of the operation) together with propofol in decreasing doses of 10 - 5 - 2 mg/kg BW/ h. In the control-group, 2,0 mg/kg BW propofol were used for induction followed by decreasing doses of 10 - 5 - 2 mg/kg BW/h as well. Premedication (0,1 mg/kg BW midazolam orally) and weight-dependent doses of fentanyl (2,5 μg/kg BW for induction, 1,25 μg/kg BW 2 min before skin inzision, further repetition doses of 1,25 - 2,5 μg/kg/BW as required) and vecuronium were equal in both groups. Beyond consumption of anesthetics and recovery, sympathoadrenergic, other endocrine and hemodynamic reactions and SEF 90 were investigated at 7 time points before induction and postoperative recovery. a ≤0,05 was considered significant. Results: Biometric data (mean age > 70 years) and duration of anesthesia and operation were comparable in both groups. Consumption of midazolam was higher in the COM-Group (14,8 vs. 7,5 mg; p=0,004), whereas doses of fentanyl and vecuronium were comparable in both collectives. Recovery was significantly (p=0,004) delayed in the COM-group: obser-ving of simple orders 12,6 vs. 5,8 min, orientation with respect to person 19,8 vs. 9,9 min, local orientation 23,1 vs. 11,3 min. Mean arterial pressure in the COM-group was throughout lower than in the control-group, whereas heart rate was higher during the course of operation. Endocrine stress parameters (adrenaline, noradrenaline, antidiuretic hormone, adrenocorticotropic hormone, cortisol) and spectral edge frequency (SEF 90 ; Drager-pEEG) were comparable in group level and time course between both groups. Plasma-concentrations of midazolam were significantly higher in the COM-group. Conclusion: In elderly patients undergoing visceral surgery in TIVA and when compared with propofol alone, no benefit of coinduction and comaintenance with midazolam and propofol could be demonstrated with respect to hemodynamic reactions and sympathoadrenergic and other endocrine stress response as well. Recovery was significantly delayed after administration of midazolam.
Myrip uses distinct domains in the cellular activation of myosin VA and myosin VIIA in melanosome transport

Myrip is a Rab27a and MyosinVIIa (MyoVIIa) linking protein that may regulate melanosome transport in the retinal pigment epithelium (RPE). Myrip also binds MyosinVa (MyoVa) in vitro however it is unclear whether this interaction is of sufficient affinity to be physiologically relevant. Here, we addressed the questions of whether Myrip interacts with MyoVa in cells and the molecular basis of cellular activation of MyoVa and MyoVIIa by Myrip. To answer these questions we used melanosome transport in skin melanocytes and RPE cells as read‐outs of MyoVa and MyoVIIa activity. We found that Myrip recruits and activates MyoVa on skin melanosomes with similar efficiency to the established MyoVa activator Melanophilin (Mlph). Mutagenesis showed that a Myrip–Mlph conserved amphipathic helix (MMAH) is essential for MyoVa interaction while other Myrip regions, including the MyoVa exon F binding domain equivalent, play non‐essential roles in this interaction. This suggests that, in contrast to Mlph, Myrip interacts with MyoVa lacking melanocyte‐specific exon F. Parallel studies of RPE melanosome transport reveal that Myrip‐specific inserts, but not the MMAH, are essential for MyoVIIa activation. We conclude that Myrip is a versatile Rab27a‐associated myosin‐activating protein that mediates cellular activation of MyoVa and MyoVIIa via non‐overlapping domains.
The long‐term impact of tissue injury on pain processing and modulation: A study on ex‐prisoners of war who underwent torture

Tissue injury may, in some instances, induce chronic pain lasting for decades. Torture survivors suffer from high rates of chronic pain and hypersensitivity in the previously injured regions. Whether torture survivors display generalized alterations in pain perception and modulation, and whether such alterations underlie their chronic pain is unknown. We aimed at exploring the long‐term alterations in pain perception and modulation in torture survivors.
Antagonisierung der Benzodiazepinwirkung mit Flumazenil (Ro 15-1788)

Am Ende einer Narkose erlebt der Anästhesist immer wieder Situationen, in denen die Aufhebung einer Medikamentenwirkung wünschenswert ist, wie z. B. die paradoxe Reaktion oder die prolongierte Wirkung trotz adäquater Dosierung. Regionalanästhesieverfahren bedürfen in aller Regel keiner Antagonisierung. Die im Rahmen von Allgemeinnarkosen eingesetzten volatilen Anästhetika sind aufgrund ihrer raschen pulmonalen Elimination durch den Anästhesisten gut steuerbar. Auch bei ihrem Einsatz stellt die Anwendung von Antagonisten, sieht man von dem ebenfalls seltenen Auftreten unerwünschter postnarkotischer zentralanticholinerger Syndrome ab, die Ausnahme dar. Daneben werden jedoch auch hochpotente Pharmaka intravenös appliziert, wie Hypnotika, Sedativa, Analgetika und Muskelrelaxantien. deren Elimination nicht beeinflußt werden kann. Die prolongierte Wirkung dieser Substanzen läßt gelegentlich die Verfügbarkeit eines möglichst spezifischen Antagonisten erstrebenswert erscheinen. Auch im Rahmen der Intensivmedizin, wo neben Anästhetika und Sedativa viele andere Substanzen häufig gleichzeitig oder mit kurzem zeitlichen Intervall verabreicht werden, sind paradoxe Reaktionen sowie prolongierte Medikamentenwirkung keine Seltenheit. Daneben begegnet der Intensivmediziner aber auch Zuständen akzidenteller oder suizidaler Oberdosierung, deren Behandlung durch den Einsatz von spezifischen Antagonisten erheblich erleichtert werden könnte. Welche Möglichkeiten der Antagonisierung standen uns bisher zur Verfügung? Eine Reihe unspezifischer, funktioneller Antagonisten, die eine Depression zerebraler Funktionen, insbesondere von Atmung und Bewugtsein, aufheben bzw. abmildern können, ist schon seit längerem bekannt. Hierzu gehören U. a. Analeptika, wie Doxapram, sowie Physostigmin. Die Verwendung dieser Substanzen ist jedoch in ihrem Erfolg unsicher und zum Teil so nebenwirkungsreich, dai3 sich ihr Einsatz häufig verbietet (14, 28, 47). Lediglich die Wirkung von Opiaten und Muskelrelaxantien war bislang durch den Einsatz von spezifischen kompetitiven Antagonisten aufzuheben: mit Naloxon für Opiate und Prostigmin für nichtdepolarisierende Muskelrelaxantien. Von der Pharmakonklasse der Benzodiazepine ist seit einiger Zeit bekannt, daß auch sie durch einige Substanzen bzw. Substanzklassen spezifisch antagonisierbar ist. Antagonisation of Benzodiazepines
Functioning of the hypothalamic–pituitary–adrenal and growth hormone axes in frequently unexplained disorders: Results of a population study

The aim of the study was to test the hypothesis that associations with specific stress systems [hypothalamic–pituitary–adrenal (HPA) and growth hormone (GH) axes] would increase as the number of unexplained disorders increased while accounting for the possible confounding effects of psychosocial factors.
PAX3 and SOX10 activate MET receptor expression in melanoma

Melanoma is a cancer with a poorly understood molecular pathobiology. We find the transcription factors PAX3, SOX10, MITF, and the tyrosine kinase receptor MET expressed in melanoma cell lines and primary tumors. Analysis for MET expression in primary tumor specimens showed 27/40 (68%) of the samples displayed an increased expression of MET, and this expression was highly correlated with parallel expression of PAX3, SOX10, and MITF. PAX3 and MITF bind to elements in the MET promoter independently, without evidence of either synergistic activation or inhibition. SOX10 does not directly activate the MET gene alone, but can synergistically activate MET expression with either PAX3 or MITF. In melanoma cells, there was evidence of two pathways for PAX3 mediated MET induction: (i) direct activation of the gene, and (ii) indirect regulation through MITF. SK‐MEL23 melanoma cells have both of these pathways intact, while SK‐MEL28 melanoma cells only have the first pathway. In summary, we find that PAX3, SOX10 and MITF play an active role in melanoma cells by regulating the MET gene. In consequence, MET promotes the melanoma cancer phenotype by promoting migration, invasion, resistance to apoptosis, and tumor cell growth.
ATRX mutations and glioblastoma: Impaired DNA damage repair, alternative lengthening of telomeres, and genetic instability

ABSTRACT Alpha thalassemia/mental retardation syndrome X-linked (ATRX) is mutated in nearly a third of pediatric glioblastoma (GBM) patients. We developed an animal model of ATRX-deficient GBM. Using this model combined with analysis of multiple human glioma genome-wide datasets, we determined that ATRX mutation leads to genetic instability, impaired non-homologous end joining, and alternate lengthening of telomeres (ALT).
Failure of combination therapy for Staphylococcus aureus bone infection: a case of in vivo selection with resistance to rifampicin and fusidic acid

Abstract Staphylococcus aureus is one of the main etiologies of bone and device-related infections. Treatment of these orthopedic infections combines mostly rifampicin with other antibiotics. The recurrence or failure rate after fusidic acid/rifampicin treatment remains low (<10%). We discuss here a case of antibiotic treatment failure for Staphylococcus aureus bone infection with in vivo selection of rifampicin and fusidic acid resistance. We also report a new mutation in fusA gene involved in fusidic acid resistance.