Search Results - "Kebaïli, Kamila"
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Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
Published in Nature communications (28-07-2015)“…The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder…”
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Incidence and risk factors for clinical neurodegenerative Langerhans cell histiocytosis: a longitudinal cohort study
Published in British journal of haematology (01-11-2018)“…Neurodegenerative (ND) complications in Langerhans cell histiocytosis (LCH) are a late‐onset but dramatic sequelae for which incidence and risk factors are not…”
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Alpha‐thalassaemia promotes frequent vaso‐occlusive crises in children with sickle cell anaemia through haemorheological changes
Published in Pediatric blood & cancer (01-08-2017)“…Background Sickle cell anaemia (SCA) is a severe hereditary haemoglobinopathy characterised by haemorheological abnormalities, which play a role in the…”
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Medication adherence after pediatric allogeneic stem cell transplantation: Barriers and facilitators
Published in European journal of oncology nursing : the official journal of European Oncology Nursing Society (01-02-2019)“…Immunosuppressive therapy following pediatric hematopoietic stem cell transplantation is essential for the patient's prognosis, as the antibioprophylaxis and…”
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Effect of Age on Blood Rheology in Sickle Cell Anaemia and Sickle Cell Haemoglobin C Disease: A Cross-Sectional Study
Published in PloS one (29-06-2016)“…Blood rheology plays a key role in the pathophysiology of sickle cell anaemia (SS) and sickle cell haemoglobin C disease (SC), but its evolution over the…”
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Childhood Langerhans cell histiocytosis with severe lung involvement: a nationwide cohort study
Published in Orphanet journal of rare diseases (09-09-2020)“…Abstract Background Lung involvement in childhood Langerhans cell histiocytosis (LCH) is infrequent and rarely life threatening, but occasionally, severe…”
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UGT1A1 (TA)n genotype is not the major risk factor of cholelithiasis in sickle cell disease children
Published in European journal of haematology (01-03-2017)“…Objectives Because of the increased hemolytic rate, a significant proportion of patients with sickle cell disease (SCD) are prone to develop cholelithiasis…”
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Short-Term Femoral Catheter Insertion: A Promising Alternative to Consistently Allow Long-Term Erythrocytapheresis Therapy in Children with Sickle Cell Anemia
Published in The Journal of pediatrics (01-02-2013)“…Erythrocytapheresis procedures, increasingly used in the management of patients with severe complications of sickle cell disease, are limited by adequate…”
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Priming With Red Blood Cells Allows Red Blood Cell Exchange for Sickle Cell Disease in Low-Weight Children
Published in Frontiers in medicine (22-12-2021)“…Red blood cell exchanges are frequently used to treat and prevent cerebrovascular complications in patients with sickle cell anemia (SCA). However, the low…”
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Effects of Genotypes and Treatment on Oxygenscan Parameters in Sickle Cell Disease
Published in Cells (Basel, Switzerland) (05-04-2021)“…(1) Background: The aim of the present study was to compare oxygen gradient ektacytometry parameters between sickle cell patients of different genotypes (SS,…”
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Correction: Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
Published in Nature communications (22-06-2016)“…Nature Communications 6: Article number: 7870 (2015); Published: 28 July 2015; Updated: 22 June 2016 In Fig. 1b of this Article, the sex of patient 2.1 in…”
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A positioning pillow to improve lumbar puncture success rate in paediatric haematology-oncology patients: a randomized controlled trial
Published in BMC cancer (15-01-2009)“…Lumbar punctures (LPs) are common in children with cancer. Although pain management during the lumbar puncture has been well standardized, dealing with stress…”
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Severe neurologic complication after delayed hemolytic transfusion reaction in 2 children with sickle cell anemia: significant diagnosis and therapeutic challenges
Published in Journal of pediatric hematology/oncology (01-12-2008)“…Although delayed hemolytic transfusion reaction (DHTR) has been widely recognized as a serious complication of red blood cell transfusion in patients with…”
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UGT 1A1 ( TA ) n genotype is not the major risk factor of cholelithiasis in sickle cell disease children
Published in European journal of haematology (01-03-2017)“…Abstract Objectives Because of the increased hemolytic rate, a significant proportion of patients with sickle cell disease ( SCD ) are prone to develop…”
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Interruption of cART in Clinical Practice Is Associated With an Increase in the Long-Term Risk of Subsequent Immunosuppression in HIV-1-Infected Children
Published in The Pediatric infectious disease journal (01-12-2014)“…BACKGROUND:Antiretroviral treatment interruption (TI) is not recommended in HIV-infected children. We aimed to evaluate the context and consequences of TI in…”
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New Insights Into Infections' Risk of Adolescents and Young Adults Treated for Acute Lymphoblastic Leukemia
Published in The Pediatric infectious disease journal (31-07-2024)“…This study aims to compare the infections' risk between adolescents and young adults (AYAs), treated for acute lymphoblastic leukemia, and pediatric…”
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BRAF Mutation Correlates With High-Risk Langerhans Cell Histiocytosis and Increased Resistance to First-Line Therapy
Published in Journal of clinical oncology (01-09-2016)“…Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia with a broad spectrum of clinical manifestations and outcomes in children. The somatic…”
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Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease)
Published in European journal of pediatrics (01-02-2005)“…Congenital erythropoietic porphyria (CEP; Gunther disease; OMIM 263700) is a rare autosomal recessive disorder caused by a deficiency of uroporphyrinogen III…”
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