Pediatric Hemophilic Arthropathy of the Knee: Treatment With Circular External Fixator and Intra-articular Injection of Platelet-Rich Plasma.

There are limited reports about managing knee flexion contracture (KFC) due to hemophilic hemarthrosis with the Ilizarov technique and platelet-rich plasma intraarticular injection administration. This article aims to describe a case of KFC treated with a circular external fixator and intraarticular administration of platelet-rich plasma in a pediatric patient. A 12-year-old male patient suffering from hemophilia A was being monitored by our department due to knee effusions. Extensive knee flexion contracture of the left knee was seen. The Ilizarov technique was chosen for surgical management of the worsening knee flexion contracture. The duration of distraction was six weeks. Due to localized pain and functional impairment, intra-articular administration of platelet-rich plasma (PRP) was applied twice, on the first month after the circular frame removal and at a six-month follow-up, with clinical and functional improvement. Our clinical case report demonstrates that PRP intra-articular injections are likely to provide an improvement in pain and knee joint function, as well as joint hyperemia, even in the case of already established knee flexion contracture, which was managed with a circular distraction device. However, more studies regarding the Ilizarov technique and the PRP intraarticular administration are needed for a protocol to be established for the management of the hemophilic knee joint in the pediatric population.

Inferior Vena Cava agenesis presenting as deep vein thrombosis in an eight year-old girl.

Agenesis of vena cava inferior (AVCI) is a rare congenital malformation with a prevalence of 0.0005-1% in the general population. High level of suspicion is required in young patients with deep vein thrombosis (DVT), particularly bilateral. We present an 8-year-old girl with AVCI presenting as bilateral lower extremity DVT and a review of the literature in pediatric cases with AVCI and DVT.

Clinical application of extended half-life factor VIII in children with severe haemophilia A.

INTRODUCTION: Only few studies have presented results from real-world clinical use of Extended Half-Life (EHL) products in children with haemophilia (CWH). AIM: To retrospectively examine real-life experience with EHL factor VIII products use in CWH A, comparing with clinical experience from standard half-life products (SHL). METHODS: A retrospective review of medical records of CWH A who have been prescribed EHL factor concentrates was conducted. All before/after comparisons were performed with the Wilcoxon matched-pairs signed-ranks test. RESULTS: Twenty-three children with severe haemophilia A were enrolled in the study (3-6 years old: n = 4, 7-12 years old: n = 7 and 13-18 years old: n = 12). Median length of time that patients were treated with EHL products was 78 weeks. Median dosing interval was significantly lengthened from 2.3 to 3.5 days after switching from SHL to EHL concentrates. Mean trough FVIII levels were significantly increased from 2.3% to 4.1% after treatment with EHL products. Also, CWH A had a reduction of mean annual bleeding rate (ABR) and mean annual joint bleeding rate (AJBR) from 1 and .8 to .3 and .2, respectively, following treatment with EHL concentrates (ABR: p = .02, AJBR: p = .05). However, after switching to factor EHL, actual FVIII consumption, including bleeds, was significantly increased from 94 IU/kg/week to 118 IU/kg/week in CWH A. There was no inhibitor development. CONCLUSION: This study demonstrates the successful transition of 23 CWH A from SHL to EHL factor concentrates.

The second Team Haemophilia Education Meeting, 2016, Frankfurt, Germany.

The first Team Haemophilia Education (THE) Meeting was held on 7-8 May 2015 in Amsterdam, The Netherlands. It aimed to promote the optimal care of patients with haemophilia through education of the multidisciplinary treatment team. This was achieved by reviewing the latest developments in haemophilia management, considering how these can be implemented in the clinic to improve patient care and providing a platform for networking and debate for all haemophilia treatment team members. The second THE Meeting was held on 19-20 May in Frankfurt, Germany, and participants included doctors, nurses, physiotherapists, patient representatives and data management staff from 20 different countries. Topics covered the role of the multidisciplinary team in delivering the best haemophilia care, challenges in the management of haemophilia across Europe, available clotting factor treatments, future treatments and the use of genetics in advising carriers of haemophilia. This report is a summary of the key developments in haemophilia care presented by various investigators and healthcare professionals at THE Meeting 2016.

Protective mechanisms against oxidative stress and angiopathy in young patients with diabetes type 1 (DM1).

OBJECTIVE: Advanced glycation end-products (AGEs) via their receptor, RAGE, are involved in diabetic angiopathy. Soluble RAGE, an inhibitor of this axis, is formed by enzymatic catalysis (sRAGE) or alternative splicing (esRAGE). Malondialdehyde (MDA) is an oxidative stress marker, and ferric reducing ability of plasma (FRAP) is an anti-oxidant capacity marker. METHODS: In isolated mononuclear blood cells from 110 DM1-patients (P) and 124 controls (C) (4-29 years) RAGE mRNA (g) and protein expression (pe) were measured by RT-PCR and Western immunoblotting, respectively. Plasma levels of CML (AGEs) and sRAGE were measured by ELISA, MDA by flurometry and FRAP according to 'Benzie and Strain'. RESULTS: P showed: (i) higher g of RAGE, especially in p>13 years of age and >5 years DM1, (ii) increased pe of esRAGE in DM1>5 years and (iii) increased FRAP and MDA. CONCLUSIONS: The increased esRAGE and FRAP with increased levels of CML and MDA possibly reflects a protective response against the formation of diabetic complications in these young diabetic patients.

Association between serum levels of the soluble receptor (sRAGE) for advanced glycation endproducts (AGEs) and their receptor (RAGE) in peripheral blood mononuclear cells of children with type 1 diabetes mellitus.

AIM: The binding of AGEs to RAGE is involved in diabetic vascular complications. We studied sRAGE levels and RAGE protein expression (P) together with N-carboxymethyl lysine (CML), a major AGE, in 74 patients with type 1 diabetes mellitus (DM1) and 43 healthy (C) children. METHODS: sRAGE and CML levels were determined by ELISA and RAGE P was evaluated in mononuclear cells by Western immunoblotting. RESULTS: Serum sRAGE was higher in DM1 than in C (1430 +/- 759 vs 1158 +/- 595 pg/ml, p = 0.047), inversely correlated to diabetes duration (r = -0.265, p = 0.037) and directly correlated to LDL-cholesterol levels (r = 0.224, p = 0.039). Diabetes duration correlated independently with sRAGE (p = 0.034). Circulating CML levels were not significantly different between DM1 and C groups (3.51 +/- 1.49 vs 3.59 +/- 1.83 ng/ml, p > 0.05) and RAGE P was lower in DM1 than in C (61 +/- 46 vs 102 +/- 63%, p = 0.0001). CONCLUSIONS: Increased serum sRAGE in children with DM1 may provide temporary protection against cell damage and may be sufficient to eliminate excessive circulating CML.