Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

For years, the gold standard for diagnosing Gaucher disease (GD) has been detecting reduced β-glucocerebrosidase (GCase) activity in peripheral blood cells combined with GBA1 mutation analysis. The use of dried blood spot (DBS) specimens offers many advantages, including easy collection, the need for a small amount of blood, and simpler transportation. However, DBS has limitations for measuring GCase activity. In this paper, we recount our cross-sectional study and publish seven years of experience using DBS samples and levels of the deacylated form of glucocerebroside, glucosylsphingosine (lyso-Gb1), for GD diagnosis. Of 444 screened subjects, 99 (22.3%) were diagnosed with GD at a median (range) age of 21 (1–78) years. Lyso-Gb levels for genetically confirmed GD patients vs. subjects negative to GD diagnosis were 252 (9–1340) ng/mL and 5.4 (1.5–16) ng/mL, respectively. Patients diagnosed with GD1 and mild GBA1 variants had lower median (range) lyso-Gb1, 194 (9–1050), compared to GD1 and severe GBA1 variants, 447 (38–1340) ng/mL, and neuronopathic GD, 325 (116–1270) ng/mL (p = 0.001). Subjects with heterozygous GBA1 variants (carrier) had higher lyso-Gb1 levels, 5.8 (2.5–15.3) ng/mL, compared to wild-type GBA1, 4.9 (1.5–16), ng/mL (p = 0.001). Lyso-Gb1 levels, median (range), were 5 (2.7–10.7) in heterozygous GBA1 carriers with Parkinson’s disease (PD), similar to lyso-Gb1 levels in subjects without PD. We call for a paradigm change for the diagnosis of GD based on lyso-Gb1 measurements and confirmatory GBA1 mutation analyses in DBS. Lyso-Gb1 levels could not be used to differentiate between heterozygous GBA1 carriers and wild type.     

Schrifttumsberichte

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Schrifttumsberichte

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Schrifttumsberichte

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Schrifttumsberichte

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Review of Gifted at risk: Poetic portraits.

Reviews the book, Gifted at risk: Poetic portraits by Jean Sunde Peterson (2009). In this book, Peterson utilizes subjective personal introspection, or autoethnography, to render poems and essays about her years in gifted education and in counseling gifted students. As complementary constructions, each one of Peterson’s reflections about a particular case includes a poem and an essay. As arts-based research in education, each entry is from Peterson’s own impressions and memories about a specific gifted student, whom she taught or counseled. For anyone who works with adolescents and emerging adults who are gifted, Peterson’s book will be an informative resource. It does not stand alone as a textbook to introduce topics about giftedness, as it lacks explicit definitions, citations, and references. However, together with one or two more thorough treatments of giftedness research, it will do well. Counselors will come back to its pages numerous times as they work with gifted students. It will be a resource for them to reflect about the struggles and triumphs of gifted life—with highs and lows being realistically recounted. Its coverage—from moving toward good decisions, to suicide attempts and suffering abuse, to an eye toward “developmental task accomplishment”, is broad. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Characterization of grain boudaries in silicon solar cells

Contents Proceeding from the results for the barrier height of a grain boundary in solar cell material evaluated from the measurement of the zero bias conductance at a bicrystal test structure the density of grain boundary states and their distribution in energy have been determined. The method is a spectroscopic one and yields a steplike energy distribution. In accordance with theoretical calculations simulating typical energy distributions of the states we find, that the density of states in the middle of the gap is negligible and increases towards the conduction band edge to values of about 10¹² cm^–2 V^–1. The capture cross section ratio is found to range from 1C _p C _n 10. The method is proved to yield definite and unambiguous results by means of additional model calculations.

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Charakterisierung von Korngrenzen in Silizium-Solarzellen

Übersicht Ausgangspunkt für die Bestimmung der Zustandsdichte und der Energieverteilung von Korngrenzen-Zuständen sind die Ergebnisse für die Höhe der Potentialbarriere an den Korngrenzen von Solarzellenmaterial. Die Barrierenhöhe ist dabei aus Messungen des Gleichstrom-Leitwertes am Spannungs-Nullpunkt von Bikristall-Teststrukturen gewonnen worden. Bei dieser Bestimmung der Energieverteilung der Zustandsdichte von Korngrenzen-Zuständen handelt es sich um eine spektroskopische Methode, die den Gesamtverlauf in diskontinuierlichen Stufen beschreibt. Dabei ergibt sich, daß die Zustandsdichte in der Mitte der Verbotenen Zone unter die Nachweisgrenze sinkt und in Richtung der Leitungsbandkante bis auf Werte von 10¹² cm^–2 eV^–1 ansteigt. Die hier erhaltene Energieverteilung von Korngrenzen-Zuständen wurde durch Modellrechnungen für vorgegebene Zustandsverteilungen bestätigt. Für das Verhältnis der Einfangquerschnitte findet man 1C _p C _n 10. Anhand zusätzlicher Modellrechnungen kann gezeigt werden, daß die Ergebnisse dieser Untersuchungsmethode numerisch abgesichert und eindeutig sind.

     

Software auf dem Weg zur Industrialisierung

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