Background: Adenoviral vector COVID-19 vaccine-induced immune thrombotic thrombocytopenia (VITT) is a heparin-independent platelet-activating disorder. An increasing number of VITT-like disorders without previous vaccination are being identified.
Key Clinical Question: To explore the association of the pediatric cluster of postinfectious thrombosis and thrombocytopenia with VITT-like disorders.
Life (Basel)
September 2024
We aim (a) to introduce an easy-to-perform multi-echo gradient-echo sequence (mGRE) for the detection of hemosiderin deposition in the ankle joints of boys with haemophilia (b) to explore the associations between the presence and severity of hemosiderin deposition and the other components of haemophilic arthropathy, the clinical score, and the number and chronicity of joint bleeds. An MRI of 41 ankle joints of 21 haemophilic boys was performed on a 3 T MRI system using an mGRE sequence in addition to the conventional protocol. Conventional MRI and mGRE were separately and independently assessed by three readers, namely, two musculoskeletal radiologists and a general radiologist for joint hemosiderin.
View Article and Find Full Text PDFThere 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.
View Article and Find Full Text PDFCongenital fibrinogen deficiency (CFD) is a rare bleeding disorder caused by mutations in FGA, FGB, and FGG. We sought to comprehensively characterize patients with CFD using PRO-RBDD (Prospective Rare Bleeding Disorders Database). Clinical phenotypes, laboratory, and genetic features were investigated using retrospective data from the PRO-RBDD.
View Article and Find Full Text PDFAgenesis 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.
View Article and Find Full Text PDFIntroduction: 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.
There is evidence that bone mass is decreased and bone metabolism is dysregulated in children with haemophilia (CWH). The objective of this study was to investigate the impact of haemophilia on skeletal health in children, with regards to bone mineral density (BMD) and metabolic bone profile. This study included 51 male CWH A.
View Article and Find Full Text PDFIntroduction: For persons with hemophilia, optimization of joint outcomes is an important unmet need. The aim of this initiative was to determine use of ultrasound in evaluating arthropathy in persons with hemophilia, and to move toward consensus among hemophilia care providers regarding the preferred ultrasound protocols for global adaptation.
Methods: A global survey of hemophilia treatment centers was conducted that focused on understanding how and why ultrasound was being used and endeavored to move toward consensus definitions of both point-of-care musculoskeletal ultrasound (POC-MSKUS) and full diagnostic ultrasound, terminology to describe structures being assessed by ultrasound, and how these assessments should be interpreted.
A 4-year-old girl from Syria presented to the hospital with multiple bruises on her body. Bruises were observed in protected areas in a shape of fingerprints and objects, while no other bruises occurred during hospitalization. The parents also reported a history of bleeding diathesis from infancy.
View Article and Find Full Text PDFBackground: Haemophilic children are prone to low bone mass accrual.
Objective: To assess bone properties in haemophilic children, using peripheral quantitative computed tomography (pQCT) and to correlate findings with clinical data.
Subjects/methods: Peripheral quantitative computed tomography scan of both radii and tibiae were performed in 31 haemophilic A children (severe 24, mean age 11.
J Pediatr Hematol Oncol
November 2014
We retrospectively analyzed the data of 24 children (whereof 11 neonates), with non-central venous line-related and nonmalignancy-related venous thromboembolism (VTE) at uncommon sites, referred to our Unit from January 1999 to January 2012. Thirty patients who also suffered deep vein thrombosis, but in upper/low extremities, were not included in the analysis. The location of rare site VTE was: portal (n=7), mesenteric (n=2) and left facial vein (n=1), spleen (n=3), lung (n=3), whereas 10 neonates developed renal venous thrombosis.
View Article and Find Full Text PDFHuman Leucocyte Antigen (HLA) alleles, cytokine polymorphisms and the type of factor VIII (FVIII) gene mutation are among predisposing factors for inhibitors (inh) development in children with severe haemophilia A (HA). The aim was to investigate the correlations among (i) FVIII gene intron-22 inversion, (ii) HLA alleles and haplotypes and (iii) certain cytokine polymorphisms, with the risk for FVIII inhibitors development in 52 Greek severe HA children, exclusively treated with recombinant concentrates. We performed Long-Range PCR for detection of intron-22 inversion and PCR-SSP, PCR-SSO for genotyping of HLA-A, B, C, DRB1, DQB1 alleles and also for cytokine polymorphisms of TNF-α, TGF-β1, IL-10, IL-6 and IFN-γ.
View Article and Find Full Text PDFMYH9-related disease (MYH9-RD) is a rare autosomal dominant syndromic disorder caused by mutations in MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (myosin-9). MYH9-RD is characterized by congenital macrothrombocytopenia and typical inclusion bodies in neutrophils associated with a variable risk of developing sensorineural deafness, presenile cataract, and/or progressive nephropathy. The spectrum of mutations responsible for MYH9-RD is limited.
View Article and Find Full Text PDFBackground: The European Network of Rare Bleeding Disorders (EN-RBD) was established to bridge the gap between knowledge and practise in the care of patients with RBDs.
Objectives: To explore the relationship between coagulation factor activity level and bleeding severity in patients with RBDs.
Patients/methods: Cross-sectional study using data from 489 patients registered in the EN-RBD.
Unlabelled: Plasminogen deficiency, a rare autosomal recessive disorder, is classified as type I (hypoplasminogenemia) or type II (dysplasminogenemia). Hypoplasminogenemia is characterized by impaired wound healing while ligneous conjunctivitis (LC) is its main manifestation presenting with redness of the conjunctivae and progression to pseudomembranes' formation on the palpebral surfaces. A 4-year-old girl with LC in her left eye and impaired vision was referred to our unit.
View Article and Find Full Text PDFArthropathy is considered as an irreversible and progressive complication in patients with haemophilia, even in children on prophylaxis. To estimate the progression of haemophilic arthropathy, 85 joints of 24 boys with severe (n = 18) and moderate (n = 6) haemophilia (A: 22, B: 2) were investigated with clinical examination, X-rays and magnetic resonance imaging (MRI) at two time periods (time 0 and 1). Patients' age at time 0 was 10.
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