125,093 research outputs found
From Genetic Testing to Precision Medicine in Epilepsy
No full textEpilepsy includes a number of medical conditions with recurrent seizures as common denominator. The large number of different syndromes and seizure types as well as the highly variable inter-individual response to the therapies makes management of this condition often challenging. In the last two decades, a genetic etiology has been revealed in more than half of all epilepsies and single gene defects in ion channels or neurotransmitter receptors have been associated with most inherited forms of epilepsy, including some focal and lesional forms as well as specific epileptic developmental encephalopathies. Several genetic tests are now available, including targeted assays up to revolutionary tools that have made sequencing of all coding (whole exome) and non-coding (whole genome) regions of the human genome possible. These recent technological advances have also driven genetic discovery in epilepsy and increased our understanding of the molecular mechanisms of many epileptic disorders, eventually providing targets for precision medicine in some syndromes, such as Dravet syndrome, pyroxidine-dependent epilepsy, and glucose transporter 1 deficiency. However, these examples represent a relatively small subset of all types of epilepsy, and to date, precision medicine in epilepsy has primarily focused on seizure control, and other clinical aspects, such as neurodevelopmental and neuropsychiatric comorbidities, have yet been possible to address. We herein summarize the most recent advances in genetic testing and provide up-to-date approaches for the choice of the correct test for some epileptic disorders and tailored treatments that are already applicable in some monogenic epilepsies. In the next years, the most probably scenario is that epilepsy treatment will be very different from the currently almost empirical approach, eventually with a “precision medicine” approach applicable on a large scale
Going Beyond Counting First Authors in Author Co-citation Analysis
No full textThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Dispelling the Myths Behind First-author Citation Counts
No full textWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
Bruchus occidentalis Lukjanovitsh et Ter-Minassian 1957
No full text<p> <i>B. occidentalis</i> Lukjanovitsh et Ter-Minassian, 1957:</p> <p>Delobel & Delobel (2007), Anton (2001, 2010)</p>Published as part of <i>Stojanova, Anelia & György, Zoltán, 2011, Checklist of the Bulgarian Bruchinae (Coleoptera: Chrysomelidae), pp. 1-7 in ZooNotes 25 (25)</i> on page 5, DOI: <a href="http://zenodo.org/record/8301861">10.5281/zenodo.8301861</a>
Curculio albisquama Ter-Minassian 1956
No full text<i>Curculio albisquama</i> Ter­Minassian <p>Figs. 63–64</p> <i>Curculio albisquama</i> Ter­Minassian 1956:431. <p> <b>Type.</b> Northern China: Holotype male (ZMAS).</p> <p> <b>Diagnosis.</b> Oval; 3.3 mm (n = 1) in length, 1.8 mm (n = 1) in width; frons 0.27 as broad as head across eyes, base of rostrum as broad as frons; segment 1 of antennal club longer than funicular segment 7; disc of pronotum clothed with narrow, elongate, white scales; scutellum large, as long as broad, clothed with white scales; mesosternal intercoxal process not prominent; distad of scutellum, elytra with short vitta on interval 1 of testaceous scales, disc flat in lateral view, clothed with narrow, elongate, cinerous to dirty white scales, with feeble fascia of white scales past midpoint and vague vittae of white scales distad of humeri; hind femur with small tooth; metatibiae sinuate, pro­, mesouncus large as long as tarsal claw, metauncus small; sternite 1 longer than 2 behind coxal cavity. <i>Pygidium:</i> small­sized, clothed with dense tuft of long, narrow, white seta­like scales. <i>Genitalia:</i> not dissected.</p> <p> <b>Distribution.</b> China.</p> <p> <b>Remarks.</b> This species was described from a unique specimen collected in 1893 from China. It stands apart from the remainder of this species group in its size and general appearance being gray to white, thus the name <i>C. albisquama.</i></p>Published as part of <i>Pelsue, Frank W. & Zhang, Runzhi, 2002, A Review Of The Genus Curculio From China With Descriptions Of New Taxa. Part III. The Curculio subfenestratus Voss Group (Curculionidae: Curculioninae: Curculionini), pp. 1-39 in The Coleopterists Bulletin 56 (1)</i> on page 21, DOI: 10.1649/0010-065X(2002)056[0001:AROTGC]2.0.CO;2, <a href="http://zenodo.org/record/10102918">http://zenodo.org/record/10102918</a>
Mechanisms of electrical stimulation with neural prostheses
No full textRattay F, Resatz S, Lutter P, Minassian K, Jilge B, Dimitrijevic MR. Mechanisms of electrical stimulation with neural prostheses. Neuromodulation. 2003;6(1):42-56
Obstetrics and gynecology clerkship guide/ Edit.: Shahab S. Minassian; Mark B. Woodland
No full textxix, 491 hal.: ill, tab.; 21 cm
Obstetrics and gynecology clerkship guide/ Edit.: Shahab S. Minassian; Mark B. Woodland
No full textxix, 491 hal.: ill, tab.; 21 cm
Genetic diagnosis in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls
No full textLafora disease (LD) can be diagnosed by skin biopsy, but this approach has both false negatives and false positives. Biopsies of other organs can also be diagnostic but are more invasive. Genetic diagnosis is also possible but can be inconclusive, for example, in patients with only one heterozygous EPM2A mutation and patients with apparently homozygous EPM2B mutations where one parent is not a carrier of the mutation. We sought to identify occult mutations and clarify the genotypes and confirm the diagnosis of LD in patients with apparent nonrecessive disease inheritance. We used single nucleotide polymorphism, quantitative PCR, and fluorescent in situ hybridization analyses. We identified large EPM2A and EPM2B deletions undetectable by PCR in the heterozygous state and describe simple methods for their routine detection. We report a coding sequence change in several patients and describe why the pathogenic role of this change remains unclear. We confirm that adult-onset LD is due to EPM2B mutations. Finally, we report major intrafamilial heterogeneity in age at onset in LD. ©2007AAN Enterprises, Inc.Andrade DM, 2003, NEUROLOGY, V61, P1611; Baykan B, 2005, EPILEPSIA, V46, P1695, DOI 10.1111-j.1528-1167.2005.00272.x; BUSARD HLSM, 1987, ANN NEUROL, V21, P599, DOI 10.1002-ana.410210613; CARPENTER S, 1981, ANN NEUROL, V10, P63, DOI 10.1002-ana.410100116; Chan EM, 2004, NEUROLOGY, V63, P565; Chan EM, 2003, NAT GENET, V35, P125, DOI 10.1038-ng1238; Chan EM, 2004, HUM MOL GENET, V13, P1117, DOI 10.1093-hmg-ddh130; Fernandez-Barreiro A, 1999, J NEUROL NEUROSUR PS, V66, P114; Fernandez-Sanchez ME, 2003, HUM MOL GENET, V12, P3161, DOI 10.1093-hmg-ddg340; Footitt DR, 1997, J NEUROL, V244, P40; Franceschetti S, 2006, EPILEPSIA, V47, P640, DOI 10.1111-j.1528-1167.2006.00479.x; Ganesh S, 2002, HUM MOL GENET, V11, P1263, DOI 10.1093-hmg-11.11.1263; Ganesh S, 2004, BIOCHEM BIOPH RES CO, V313, P1101, DOI 10.1016-j.bbrc.2003.12.043; Ganesh S, 2000, HUM MOL GENET, V9, P2251; Gentry MS, 2005, P NATL ACAD SCI USA, V102, P8501, DOI 10.1073-pnas.0503285102; Gomez-Abad C, 2005, NEUROLOGY, V64, P982; Gomez-Garre P, 2000, EUR J HUM GENET, V8, P946, DOI 10.1038-sj.ejhg.5200571; Ianzano Leonarda, 2005, Hum Mutat, V26, P397, DOI 10.1002-humu.9376; KAUFMAN MA, 1993, NEUROLOGY, V43, P1246; Lafora GR, 1911, Z GESAMTE NEUROL PSY, V6, P1, DOI 10.1007-BF02863929; Lohi H, 2005, HUM MOL GENET, V14, P2727, DOI 10.1093-hmg-ddi306; Lohi Hannes, 2006, Adv Neurol, V97, P399; Messouak O, 2002, REV NEUROL-FRANCE, V158, P74; Minassian BA, 1998, NAT GENET, V20, P171, DOI 10.1038-2470; Minassian BA, 2001, PEDIATR NEUROL, V25, P21, DOI 10.1016-S0887-8994(00)00276-9; Minassian BA, 2000, NEUROLOGY, V55, P341; Minassian BA, 2000, NEUROLOGY, V54, P488; Singh S, 2005, J HUM GENET, V50, P347, DOI 10.1007-s10038-005-0263-7; Van Heycop Ten Ham MV, 1974, HDB CLIN NEUROLOGY, V15, P382; Wang JY, 2002, J BIOL CHEM, V277, P2377, DOI 10.1074-jbc.C100686200; Wang W, 2004, BIOCHEM BIOPH RES CO, V325, P726, DOI 10.1016-j.bbrc.2004.10.08321211
Pragmatic Case Studies as a Source of Unity in Applied Psychology
No full textTo unify or not to unify applied psychology: that is the question. In this article we review pendulum swings in the historical efforts to answer this question—from a comprehensive, positivist, “top-down,” deductive yes between the 1930s and the early 60s, to a postmodern no since then. A rationale and proposal for a limited, “bottom-up,” inductive yes in applied psychology is then presented, employing a case-based paradigm that integrates both positivist and postmodern themes and components. This paradigm is labeled “pragmatic psychology” and, its specific use of case studies, the “Pragmatic Case Study Method” (“PCS Method”). We call for the creation of peer-reviewed journal-databases of pragmatic case studies as a foundational source of unifying applied knowledge in our discipline. As one example, the potential of the PCS Method for unifying different angles of theoretical regard is illustrated in an area of applied psychology, psychotherapy, via the case of Mrs. B. The article then turns to the broader historical and epistemological arguments for the unifying nature of the PCS Method in both applied and basic psychology.Peer reviewe
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