Impact of high risk thrombophilia status on recurrence among children and adults with VTE: An observational multicenter cohort study.

Background: Antithrombin [AT]-, protein C [PC]- or protein S [PS]-deficiency [D] constitutes a major risk factor for venous thromboembolism [VTE]. Primary study objective was to evaluate if the clinical presentation at first VTE onset differs between children and adults and to compare the individual recurrence risk among patients with respect to age at onset and their thrombophilia status ATD, PCD or PSD.

Methods/patients/results: In 137 of 688 consecutively enrolled pediatric and adult VTE patients we calculated the absolute risk of VTE recurrence and event-free-survival adjusted for thrombophilia and positive family VTE history.

Prognostic factors for remission of and survival in acquired hemophilia A (AHA): results from the GTH-AH 01/2010 study.

Acquired hemophilia A (AHA) is caused by autoantibodies against factor VIII (FVIII). Immunosuppressive treatment (IST) results in remission of disease in 60% to 80% of patients over a period of days to months. IST is associated with frequent adverse events, including infections as a leading cause of death.

Risk factors for high-titer inhibitor development in children with hemophilia A: results of a cohort study.

Among the discussed risk factors for high-titre inhibitor (HRI) development in patients with hemophilia A (HA) are high dose FVIII replacement therapy and use of recombinant FVIII concentrates (rFVIII). The aim of this study was to evaluate the aforementioned risk factors for HRI development in children with hemophilia A ≤2%. About 288 ascertained PUPs (Israel and Germany) were followed after initial HA diagnosis over 200 exposure days.

Venous thromboembolism in neonates and children--update 2013.

Thromboses (VTE) in children were associated with medical diseases with and without acquired or inherited thrombophilic risk factors (IT). Disease recurrence rates vary between 3% in children with a first event during the neonatal period and 21% in children with idiopathic VTE. Recently reported systematic reviews showed significant associations between VTE and factor V G1691A or factor II G20210A mutations, protein C, protein S and antithrombin deficiency, more pronounced when combined IT were involved.

Role of reduced ADAMTS13 in arterial ischemic stroke: a pediatric cohort study.

Objective: Previous studies in adults and mice have implicated ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13), also known as von Willebrand factor (VWF)-cleaving protease, as a protective factor for stroke. Here we investigated ADAMTS13 in 208 pediatric patients with arterial ischemic stroke (AIS) and 125 population-based control children in a frequency-matched case-control study.

Methods: The proportion of patients/controls with ADAMTS13 activity levels below and above the 10th percentile was compared.

A genome-wide association study identifies a gene network of ADAMTS genes in the predisposition to pediatric stroke.

Pediatric stroke is a rare but highly penetrant disease with a strong genetic background. Although there are an increasing number of genome-wide association studies (GWASs) for stroke in adults, such studies for stroke of pediatric onset are lacking. Here we report the results of the first GWAS on pediatric stroke using a large cohort of 270 family-based trios.

Inherited thrombophilia in children with venous thromboembolism and the familial risk of thromboembolism: an observational study.

Screening for inherited thrombophilia (IT) is controversial; persons at high risk for venous thromboembolism (VTE) who benefit from screening need to be identified. We tested 533 first- and second-degree relatives of 206 pediatric VTE patients for IT (antithrombin, protein C, protein S, factor V G1691A, factor II G20210A) and determined the incidence of symptomatic VTE relative to their IT status. The risk for VTE was significantly increased among family members with, versus without, IT (hazard ratio = 7.

Safety and efficacy of low molecular weight heparins in children: a systematic review of the literature and meta-analysis of single-arm studies.

Within the last two decades low molecular weight heparins (LMWH) have gained increasing widespread use as anticoagulants in children. The use of LMWH has been implemented into clinical care even though there is a lack of firm evidence on the efficacy and safety of LMWH in this population due to the absence of sufficiently powered randomized controlled trials. In the absence of clinical trials, we performed a meta-analysis of available single-arm studies using LMWH in children.

Thrombophilia testing in neonates and infants with thrombosis.

In neonates and infants with idiopathic venous thrombosis (VTE) and in pediatric populations in which thromboses were associated with medical diseases, inherited thrombophilia (IT) have been described as risk factors. Follow-up data for VTE recurrence in neonates suggest a recurrence rate between 3% in provoked and 21% in idiopathic VTE. Apart from underlying medical conditions, recently reported systematic reviews on pediatric VTE have shown significant associations between factor V G1691A, factor II G20210A, and deficiencies of protein C, protein S and antithrombin, even more pronounced when combined IT were involved.

Health-related quality of life in children and adolescents with stroke, self-reports, and parent/proxies reports: cross-sectional investigation.

Objective: Limited data are available on health-related quality of life (HR-QoL) in pediatric stroke survivors. The aim of the present study was to assess HR-QoL by self-assessment and parent/proxy-assessment in children and adolescents who survived a first stroke episode.

Methods: We investigated HR-QoL in pediatric stroke survivors (71 preschool children [G1] and 62 school children/adolescents [G2]) and in 169 healthy controls.

Long-term secondary prophylaxis in children, adolescents and young adults with von Willebrand disease. Results of a cohort study.

In patients with von Willebrand disease (VWD) replacement therapy with factor VIII/von Willebrand (VWF) concentrates is increasingly applied as prophylactic regimen. Since 2000, 82 consecutively enrolled patients with clinically relevant bleeding episodes (spontaneous, peri- or postoperative) were diagnosed with VWD [type 1: 42/82; type 2: 24/82; type 3: 13/82; acquired: 3/82]. In all patients, decision for initiating prophylaxis was based on a bleeding score > 2 prior to diagnosis, concomitant with recurrent bleeds associated with anaemia in patients with on-demand VWD therapy.