Pharmacogenetics of warfarin in a paediatric population: time in therapeutic range, initial and stable dosing and adverse effects.

Warfarin is used in paediatric populations, but dosing algorithms incorporating pharmacogenetic data have not been developed for children. Previous studies have produced estimates of the effect of polymorphisms in Cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase complex subunit 1 (VKORC1) on stable warfarin dosing, but data on time in therapeutic range, initial dosing and adverse effects are limited. Participants (n=97) were recruited, and routine clinical data and salivary DNA samples were collected from all participants and analysed for CYP2C9*2, *3 and VKORC1-1639 polymorphisms.

Diagnosis and assessment of disease activity in takayasu arteritis: a childhood case illustrating the challenge.

Takayasu Arteritis (TA) is a rare, debilitating large vessel vasculitis occurring in patients of all ages, including infants, but the disease most commonly presents in the third decade. Diagnosis is often delayed and consequently TA is associated with significant morbidity and mortality. Accurate methods of monitoring disease activity or damage are lacking and currently rely on a combination of clinical features, blood inflammatory markers, and imaging modalities.

Retained central venous lines (CVLs) after attempted removal: an 11-year series and literature review.

Background: Central venous lines (CVLs) are frequently used in the management of many neonatal and pediatric conditions. Failure to remove the luminal part of the line (retained CVL) is rare. Consequently, there is lack of experience and consensus in its optimal management.

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.

Background: Tetralogy of Fallot (TOF) is common in individuals with hemizygous deletions of chromosome 22q11.2 that remove the cardiac transcription factor TBX1.

Objective: To assess the contribution of common and rare TBX1 genetic variants to TOF.

Bovine jugular vein valved conduit: up to 10 years follow-up.

Objective: The present study evaluated the mortality and conduit failure in bovine jugular vein (BJV) conduits.

Methods: Between October 1999 and February 2009, 193 patients (mean age, 6.7 ± 5.