Analysis of clinical and molecular genetic characteristics of Wiskott-Aldrich syndrome and X-linked thrombocytopenia

Introduction. Wiskott-Aldrich syndrome is a rare X-linked disorder characterized by microthrombocytopenia, eczema, and recurrent infections. It is caused by mutations of the WAS gene which encodes the WAS protein (WASp) – a key regulator of actin polymerization in hematopoietic cells. Mutations within the WASp gene result in a wide heterogeneity of clinical disease, ranging from ‘classical WAS’ to mild asymptomatic thrombocytopenia (X-linked thrombocytopenia [XLT]), or congenital neutropenia (X-lined neutropenia [XLN]).Case presentation. This present paper reports a phenotypical and laboratory description of two children diagnosed with WAS and one child diagnosed with XLT. The first case was a six months old male with septicemia, thrombocytopenia, eczema and petechial rash. The second case was a 2 years old boy presenting with complaints of recurrent infections, eczema and thrombocytopenia with small platelet size. The third case was a 16 years old boy who presented with thrombocytopenia and recurrent sinopulmonary infections.Conclusions. Due to a wide spectrum of clinical findings, the diagnosis of WAS/XLT should be considered in any male patient presenting with petechiae, bruises, and congenital or early-onset thrombocytopenia associated with small platelet size.

A new species of Parotocinclus (Loricariidae: Hypoptopomatinae) from Rio Tocantins basin, Brazil

A new species of Parotocinclus is described from the Rio Tocantins basin, Tocantins State, Brazil. The new species is distinguished from congeners by a combination of characters such as: (1) a unique pattern of body coloration with five transverse dark bars; (2) absence of an adipose fin or small platelet at typical adipose-fin region; (3) absence of conspicuous dark dots broadly distributed on the body; (4) absence of a triangular dark blotch at the anterior base of the dorsal fin; and (5) presence of a V-shaped spinelet.

Formation of platelet microaggregates correlates with adverse clinical outcome in patients with coronary artery disease

SummaryPlatelet activation plays a pivotal role in the pathogenesis of acute coronary syndromes. Laser-light scattering in a platelet aggregometer was used to evaluate aggregate size and number quantitatively. Small platelet aggregates ultimately develop into medium and then large platelet aggregates. Thus the measurement of small platelet aggregates is important in the evaluation of thrombus formation.We examined the relationship between small platelet aggregates and the occurrence of subsequent cardiovascular events. We followed-up 204 patients (149 men and 55 women, mean age 68 ± 9 years) with coronary artery disease (CAD) for 48 months. Blood sampling to determine platelet aggregation was performed on the day of hospital discharge.The degree of small platelet aggregates [relative risk 4.34, 95% confidence interval (1.62-11.7), p = 0.004] and low left-ventricular ejection fraction [relative risk 2.88, 95% confidence interval (1.23-6.73), p = 0.015] were independent predictors of the occurrence of cardiovascular events in multivariate Cox hazard analysis. In Kaplan-Meier analysis, the degree of small platelet aggregates correlated with the probability of cardiovascular event occurrence.In patients with CAD, an increase in small platelet aggregates is closely correlated with the future occurrence of cardiovascular events