LES SYNDROMES DREPANOCYTAIRES MAJEURS EN BELGIQUE :ETUDE DE L’EPIDEMIOLOGIE, LA PHYSIOPATHOLOGIE ET LE TRAITEMENT

Au travers d’une base de données médicales de patients drépanocytaires en Belgique, le travail aborde trois aspects qui ont fait l’objet de publications. Le premier est une description de la population drépanocytaire sur base d’une cohorte de 167 nouveau-nés avec un suivi médian en Belgique de 6,1 ans. Un second est l’apport du dépistage néonatal et de la prise en charge clinique précoce des patients. Un troisième concerne la survie des patients en fonction de l’intensification thérapeutique mise en œuvre. Enfin, des résultats non publiés rapportent les événements cliniques avant et après le passage à l’âge adulte.Les résultats ont permis de démontrer que les patients drépanocytaires suivis en Belgique présentent une forme sévère de la maladie ;le dépistage néonatal et en particulier la prise en charge précoce des malades donne un bénéfice clinique mais également de qualité de vie. L’intensification thérapeutique par hydroxyurée est efficace et entre autre sur la survie des patients. La période de transition entre l ‘équipe médicale pédiatrique et celle pour les adultes n’est pas, sur la cohorte étudiée, une période à risque au niveau de la survie des patients drépanocytaires. L’ensemble de ces résultats démontrent qu’une base de données médicales est essentielle pour permettre de faire évoluer nos connaissances et pratiques sur la maladie et de partager celles-ci.​Through a medical database of sickle cell patients in Belgium, the work addresses three aspects that have been published. The first is a description of the sickle cell population based on a cohort of 167 newborns with a median follow-up in Belgium of 6.1 years. A second is the provision of neonatal screening and early clinical management of these patients. A third concerns the survival of patients according to the therapeutic intensification implemented. Finally, unpublished results report clinical events before and after adulthood.The results have shown that sickle cell patients followed in Belgium have a severe form of the disease; Neonatal screening and in particular the early management of patients gives a clinical benefit but also quality of life. The therapeutic intensification with hydroxyurea is effective and in particular on the survival of the patients. The transition period between the pediatric medical team and the adult team is not, for the cohort studied, a risk period for the survival of sickle cell patients. All of these results demonstrate that a medical database is essential to evolve and share our knowledge and practices about the disease.Doctorat en Sciences médicales (Médecine)info:eu-repo/semantics/nonPublishe

Osteoid Osteoma: A Unique Presentation in a Child’s Lesser Toe

Introduction. Osteoid osteoma is an uncommon, small, benign, self-limiting, and usually painful tumor of the skeleton. Diagnosis can be straightforward if seen in the usual locations as the femur and the tibia in young adults, who present with nocturnal pain, alleviated by salicylates. The diagnosis can be more challenging in the spine, pelvis, hand, or feet. Case Report. We report the case of an 11-year-old boy who was treated symptomatically for a painful toe since 10 months, without a definitive diagnosis. X-ray, MRI, and scintigraphy, along with the typical nocturnal pain and swelling of the toe, suggested an osteoid osteoma, confirmed by histology after excisional biopsy of the lesion. Conclusion. Osteoid osteoma should always be included in the differential diagnosis when it comes to nocturnal pain without systemic signs, even in unusual places in children. The awareness should lead to a prompt diagnosis and treatment

Diagnosis of respiratory syncytial virus and influenza A and B with cobas® Liat® from nasopharyngeal aspirations in pediatrics

The cobas® Liat® Influenza A/B and respiratory syncytial virus assay was tested on nasopharyngeal aspirates. The resolution of invalid samples was performed using a preanalytical step. cobas® Liat® can be used on nasopharyngeal aspirates with a preanalytical processing step, with a slightly diminished performances in detecting respiratory syncytial virus but not for influenza.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Imaging of Juvenile Idiopathic Arthritis

Juvenile idiopathic arthritis is an umbrella term covering several distinct categories that share common features. The European League Against Rheumatism and the Pediatric Rheumatology European Society have recently published a consensus article with recommendations to guide radiologists and clinicians in choosing the best imaging technique for each particular clinical setting. A reproducible, accurate, validated and long established scoring system to use in everyday practice for monitoring and predicting long-term response to therapy is still to be developed on MR imaging for each joint.SCOPUS: re.jinfo:eu-repo/semantics/publishe

Test de génération de thrombine: importance d'établir les valeurs de référence en fonction de l'âge et des concentrations en facteur tissulaire avant l'implémentation au laboratoire.

The calibrated and automated thrombinography (CAT) developed by H.C. Hemker is a simple and reproducible technique that can be potentially used in coagulation laboratories. This test is able to record the complete thrombin generation in vitro, giving an interesting approach in the evaluation of the haemostatic potential at the individual level. We aimed to implement this test in our laboratory to follow patients with haemorrhagic or thrombotic pathologies. Haemorrhagic and thrombotic disorders are incompletely explored by the coagulation tests used presently in routine labs. These tests don't indeed reflect the real haemostatic phenotype of the patient neither the individual response to haemostatic treatments. Furthermore, they don't have any predictive value for the occurrence of haemorrhage and/or thrombosis. We report here reference values we established in a population of children and adults in pre-analytical conditions easily applicable in coagulation labs. Platelet poor plasma is prepared by a double centrifugation and analyzed immediately or frozen at -80 degrees C for delayed analysis.English AbstractJournal ArticleSCOPUS: ar.jinfo:eu-repo/semantics/publishe

Evaluation of the procoagulant activity of endogenous phospholipids in the platelet-free plasma of children with sickle cell disease using functional assays.

The mechanisms of hypercoagulability in sickle cell disease (SCD) are poorly understood.Journal ArticleResearch Support, Non-U.S. Gov'tSCOPUS: ar.jinfo:eu-repo/semantics/publishe

Is There Any Improvement of the Coagulation Imbalance in Sickle Cell Disease after Hematopoietic Stem Cell Transplantation?

Several components of the clotting system are modified towards hypercoagulability in sickle cell disease (SCD). To date, hematopoietic stem cell transplantation (HSCT) is the only validated curative treatment of SCD. Here, we investigated the changes in the hemostatic potential of SCD children who've received a successful HSCT. Seventeen children with severe SCD were enrolled in the study. Thrombin generation (TG) was performed on citrated platelet-poor plasma, obtained before and 3, 6, 9, 12 and 15 months after HSCT. TG was triggered using 1 pM tissue factor and 4 µM phospholipids with or without thrombomodulin (TM). Before the HSCT, SCD children showed a higher endogenous thrombin potential (ETP), higher peak, higher velocity and shorter time-to-peak of TG than the normal controls (NC). ETP did not significantly change following the HSCT. However, the peak, velocity and time-to-peak of TG reversed to normal ranges from 3 months post-HSCT and remained so up to 15 months post-HSCT. The reduction of ETP after the addition of thrombomodulin (RETP) was dramatically reduced in SCD children before HSCT as compared with the NC. A partial reversal of RETP was observed from 3 months through 15 months post-HSCT. No statistical difference was observed for patient age or donor hemoglobinopathy status. In summary, successful HSCT improves the kinetics of TG but not the total thrombin capacity in SCD children.info:eu-repo/semantics/publishe

Different profile of thrombin generation in children with acute lymphoblastic leukaemia treated with native or pegylated asparaginase: A cohort study

Background: Asparaginase (Asp) and corticosteroid (CS) treatment in patients with acute lymphoblastic leukaemia (ALL) is associated with an increased risk of thrombotic events. Objective: Characterization of global haemostatic phenotypes of patients with ALL during Asp therapy. Procedure: Thrombin generation (TG) was monitored in platelet-poor plasma of 56 children treated for a B lineage ALL (36 with native, 20 with PEG Asp) using 1 pM tissue factor and 4 μM phospholipids, with and without thrombomodulin. Protein C activity (PC), free protein S (PS), antithrombin (AT) and fibrinogen levels were also measured. Results: Elevated endogenous thrombin potential (ETP) and peak of TG were noted at diagnosis, throughout the Induction phase and Late Intensification but was significantly less for PEG than for native Asp (P < 0.001), while age, sex, type of corticosteroid during Induction and molecular response had no significant effect. The reduction of ETP after addition of thrombomodulin was significantly lower in ALL children compared with that in controls, suggesting impairment in PS/PC pathway. Three patients experienced thrombosis: two treated with native and one with PEG Asp. The two patients with native Asp had, at the time of thrombosis, a prothrombotic profile. Conclusions: Treatment with Asp, in combination with CS, enhances TG in children with ALL, more significantly with native than PEG Asp, which is present early at diagnosis, persists during Induction and reappears during Late Intensification. This is consistent with the high incidence of thrombotic events described during these phases of therapy. The less pronounced effect of PEG Asp remains to be elucidated.SCOPUS: ar.jFLWINinfo:eu-repo/semantics/publishe

Juvenile Idiopathic Arthritis Associated Uveitis: When to Move of Corticosteroid Therapy?

info:eu-repo/semantics/publishe

GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.

Isolated hypoparathyroidism is an uncommon metabolic disorder characterized by hypocalcemia and hyperphosphatemia, with absent or low levels of PTH. It may present as an apparently sporadic disorder or may be transmitted in families as a genetic trait. Mutations of the calcium-sensing receptor gene and of the preproPTH gene have been reported in occasional cases, and a mutation of the parathyroid-specific transcription factor GCMB gene has been reported in one familial case. We report a second family with isolated hypoparathyroidism and a GCMB mutation. The patients were two siblings from asymptomatic, first-cousin parents, indicating autosomal recessive inheritance. The mutation consisted of the substitution of a glycine residue with a serine at position 63 (G63S) in the DNA-binding GCM domain of GCMB. Functional studies in transfected cells showed that the mutation caused loss of GCMB function, as it abolished transactivation capacity, despite normal subcellular localization, protein stability, and DNA-binding specificity. Contrary to the previously reported family, our patients displayed low but clearly detectable levels of PTH in plasma. This residual hormone secretion probably results from a very small residual activity of the G63S mutant GCMB.Journal ArticleResearch Support, Non-U.S. Gov'tSCOPUS: ar.jinfo:eu-repo/semantics/publishe