Luca Van Der Kraan

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases

Mallory J. Owen, Sébastien Lefebvre, Christian Holm Hansen, Chris M. Kunard et autres

While many genetic diseases have effective treatments, they frequently progress rapidly to severe morbidity or mortality if those treatments are not implemented immediately. Since front-line physicians frequently lack familiarity with these diseases, timely molecular diagnosis may not improve outcomes. Herein we describe …

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Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

Mallory J. Owen, Anna‐Kaisa Niemi, David Dimmock, Mark V. Speziale et autres

Speedy Genetic Diagnosis Infantile encephalopathy is associated with approximately 1500 genetic diseases. Without prompt treatment, permanent neurologic injury or death may occur. Here, the genome ...

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Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

Michelle M. Clark, Amber Hildreth, Serge Batalov, Yan Ding et autres

By informing timely targeted treatments, rapid whole-genome sequencing can improve the outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and pediatric intensive care units (ICUs). The need for highly qualified professionals to decipher results, however, precludes widespread implementation. …

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The Influence of the Polyene Filipin on the Extrinsic Pathway of Blood Coagulation

Pascal Plas, Gordon Es, Luca Van Der Kraan, H.C. Hemker

The inhibition by filipin in the extrinsic blood clotting system takes place at two sites: (1) at the interaction of factor VII, tissue thromboplastin and Ca++, and (2) at the prothrombinase level. Both formation and enzymatic activity of the prothrombinase are inhibited.The …

Effect of the Polyene Antibiotic Filipin on the Lipid-Dependent Intrinsic Pathway of Blood Coagulation

Pascal Plas, Luca Van Der Kraan, Gordon Es, J. Stibbe et autres

Clotting along the intrinsic pathway can be inhibited by the polyene antibiotic filipin. Besides inhibition of the prothrombinase complex (in the common pathway of intrinsic and extrinsic coagulation) a clot-delaying effect depending on the cholesterol content of the lipid for the formation …

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Effects of Some Polyene Antibiotics on Human Platelets and their Function

Pascal Plas, Luca Van Der Kraan, J. Stibbe, H.C. Hemker

(1) Polyenes aggregate platelets. The aggregation power diminishes in the following order: filipin > nystatin > etruscomycin∼pimaricin. (2) In the case of filipin, aggregation is probably caused by damage to platelets resulting in a release of platelet contents, which subsequent aggregates the …

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Filipin as a Tool for the Study of Blood Coagulation Reactions

Pascal Plas, Luca Van Der Kraan, H.C. Hemker

Summary The influence of polyene suspensions on blood coagulation was investigated. The following conclusions can be drawn : 1. Polyenes in suspension inhibit coagulation, the sequence of activity is in accordance with the lytic activity on micro - organisms and lipid mono- …

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A rapid centrifugation method for the counting of platelets with the Coulter counter.

van der Plas Pm, Luca Van Der Kraan