Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry

Hereditary thrombotic thrombocytopenic purpura, Upshaw-Schulman syndrome, ADAMTS13 Hereditary thrombotic thrombocytopenic purpura (TTP), also known as Upshaw-Schulman syndrome, is a rare recessively inherited disease. Underlying is a severe constitutional deficiency of the von Willebrand factor-cleaving protease, ADAMTS13, due to compound heterozygous or homozygous mutations in the ADAMTS13 gene. The clinical picture is variable and more and more patients with an adult-onset are diagnosed. In the majority of countries the only available treatment is plasma, which when administered regularly can efficiently prevent acute disease bouts. The decision to initiate regular prophylaxis is often not easy, as evidence based guidelines and long term outcome data are lacking. Through the hereditary TTP registry (www.ttpregistry.net, ClinicalTrials.gov identifier: NCT01257269), which was initiated in 2006 and is open to all patients diagnosed with Upshaw-Schulman syndrome and their family members, we aim to gain further information and insights into this rare disease, which eventually will help to improve clinical management of affected patients.

Genetic variations in complement factors in patients with congenital thrombotic thrombocytopenic purpura with renal insufficiency.

The congenital form of thrombotic thrombocytopenic purpura (TTP) is caused by genetic mutations in ADAMTS13. Some, but not all, congenital TTP patients manifest renal insufficiency in addition to microangiopathic hemolysis and thrombocytopenia. We included 32 congenital TTP patients in the present study, which was designed to assess whether congenital TTP patients with renal insufficiency have predisposing mutations in complement regulatory genes, as found in many patients with atypical hemolytic uremic syndrome (aHUS). In 13 patients with severe renal insufficiency, six candidate complement or complement regulatory genes were sequenced and 11 missense mutations were identified. One of these missense mutations, C3:p.K155Q mutation, is a rare mutation located in the macroglobulin-like 2 domain of C3, where other mutations predisposing for aHUS cluster. Several of the common missense mutations identified in our study have been reported to increase disease-risk for aHUS, but were not more common in patients with as compared to those without renal insufficiency. Taken together, our results show that the majority of the congenital TTP patients with renal insufficiency studied do not carry rare genetic mutations in complement or complement regulatory genes.

Subtile und direkte Mechanismen der sozialen Konstruktion von Geschlecht in Schulbüchern. Vorstellung eines Kategoriensystems zur Analyse der Geschlechter(un)gerechtigkeit von Texten und Bildern

Ausgehend von der Frauenbewegung in Deutschland wurden bereits vor über 40 Jahren erste Analysen zur Darstellung der Geschlechter in Schulbüchern vorgelegt. Sie haben gezeigt, dass weibliche Charaktere im Vergleich zu männlichen seltener und oft in geschlechterstereotypen Rollen dargestellt werden. Heute besteht auf gesellschaftlicher Ebene deutlich mehr Geschlechtergerechtigkeit, dennoch existieren nach wie vor subtile Formen von Diskriminierung in Schulbüchern. Der vorliegende Beitrag dokumentiert die Entwicklung eines Kategoriensystems, das geeignet ist, das Ausmaß von Geschlechter(un)gerechtigkeit in Texten und Bildern aus aktuell in deutschen Schulen verwendeten Deutsch- und Mathematikbüchern zu analysieren. Neben den Häufigkeiten der Darstellungen von weiblichen und männlichen Charakteren und der Geschlechtstypizität ihrer Rollen und Aktivitäten können hiermit zwei subtile Mechanismen der Herstellung von Geschlechterungleichheiten untersucht werden: geschlechter(un)gerechte Sprache und die räumliche Darstellung weiblicher und männlicher Charaktere. Erste Ergebnisse der Anwendung des Kategoriensystems für Deutsch- und Mathematikbücher werden in der Diskussion dargestellt.