Advanced epithelioid haemangioendothelioma in a child presenting as deep vein thrombosis.

Venous thromboembolism (VTE) is a rare event in children and does not usually trigger investigation for malignancy. We report the case of a previously healthy female teenager presenting with unilateral leg swelling. Colour-Doppler ultrasound confirmed deep vein thrombosis (DVT), and the thrombophilia workup was negative.

High Prevalence of Hemophagocytic Lymphohistiocytosis in Acute Liver Failure of Infancy.

Objectives: To investigate the prevalence of hemophagocytic lymphohistiocytosis (HLH) syndrome in pediatric acute liver failure (PALF) of infancy and assess the diagnostic role of rapid immunologic tests, genotype/phenotype correlations, and clinical outcomes.

Study Design: We retrospectively analyzed 78 children with PALF aged <24 months referred over almost 2 decades. The studied patients with a phenotype of HLH syndrome had a comprehensive immunologic workup, including additional genetic analysis for primary immunologic causes.

Study of montelukast in children with sickle cell disease (SMILES): a study protocol for a randomised controlled trial.

Background: Young children with sickle cell anaemia (SCA) often have slowed processing speed associated with reduced brain white matter integrity, low oxygen saturation, and sleep-disordered breathing (SDB), related in part to enlarged adenoids and tonsils. Common treatments for SDB include adenotonsillectomy and nocturnal continuous positive airway pressure (CPAP), but adenotonsillectomy is an invasive surgical procedure, and CPAP is rarely well-tolerated. Further, there is no current consensus on the ability of these treatments to improve cognitive function.

Biopsychosocial Predictors of Quality of Life in Paediatric Patients With Sickle Cell Disease.

Sickle cell disease (SCD) refers to a group of inherited blood disorders with considerable morbidity that causes severe pain, reduces life expectancy, and requires significant self-management. Acute painful episodes are the hallmark of SCD, but persistent daily pain is also highly prevalent in this population. Characterising the impact and experience of SCD-related morbidity (i.

What is the role of chest X-ray imaging in the acute management of children with sickle cell disease?

Children with sickle cell disease (SCD) frequently present to hospital acutely unwell and are often exposed to diagnostic chest X-rays (CXRs). Little evidence exists to determine when CXRs are clinically useful. Using electronic hospital records, we audited CXR use in children aged 0-18 who presented to hospital over the past 10 years in both an inpatient and emergency department setting.

Clinical management of sickle cell liver disease in children and young adults.

Liver involvement in sickle cell disease (SCD) is often referred to as sickle cell hepatopathy (SCH) and is a complication of SCD which may be associated with significant mortality. This review is based on a round-table workshop between paediatric and adult hepatologists and haematologists and review of the literature. The discussion was prompted by the lack of substantial data and guidance in managing these sometimes very challenging cases.

Heterogeneity of respiratory disease in children and young adults with sickle cell disease.

To detect and characterise different phenotypes of respiratory disease in children and young adults with sickle cell disease (SCD), 11 lung function and haematological biomarkers were analysed using k-means cluster analysis in a cohort of 114 subjects with SCD aged between 5 and 27 years. Three clusters were detected: cluster 1 had elevated pulmonary capillary blood volume, mixed obstructive/restrictive lung disease, hypoxia and moderately severe anaemia; cluster 2 were older patients with restrictive lung disease; and cluster 3 were younger patients with obstructive lung disease, elevated serum lactate dehydrogenase and bronchodilator reversibility. These results may inform more personalised management strategies to improve outcomes.

Autoimmune Liver Disease in Children with Sickle Cell Disease.

Objective: To assess the incidence, clinical features, and outcome of autoimmune liver disease (AILD) in patients with sickle cell disease (SCD).

Study Design: Single center retrospective review of patients with SCD with AILD referred between 1999 and 2015.

Results: Thirteen of 77 (17%) patients with SCD with hepatic dysfunction were diagnosed with AILD (median age 11, range, 3.

Ruxolitinib treatment in an infant with JAK2+ polycythaemia vera-associated Budd-Chiari syndrome.

Budd-Chiari syndrome (BCS) is caused by hepatic venous outflow obstruction commonly seen with myeloproliferative neoplasms (MPNs). Polycythaemia vera (PV) is a very rare MPN in childhood. This is the youngest reported patient diagnosed with PV and BCS secondary to mutation.

Primary Budd-Chiari Syndrome in Children: King's College Hospital Experience.

Primary Budd-Chiari syndrome is a rare cause of liver disease in children in the western world. Here we present a retrospective review of children with Primary Budd-Chiari syndrome presenting from January 2001 to November 2015 to our hospital. Seven children were identified.

Extracranial internal carotid artery stenosis in children with sickle cell disease - Which transducer, what measurement?

Background: Transcranial Doppler ultrasound is used to screen and assess the intracranial arteries of children with sickle cell disease. Recent findings suggest that extracranial internal carotid artery (eICA) stenosis is also a contributing factor to silent cerebral infarction. Stenosis has been measured using phased array transducers with no beam/flow angle correction and linear arrays with angle correction.

Longitudinal assessment of lung function in children with sickle cell disease.

Objectives: To prospectively assess longitudinal lung function in children with sickle cell disease (SCD).

Working Hypothesis: Lung function in SCD children deteriorates with increasing age and the decline is more marked in younger children who have recently suffered ACS episodes.

Study Design: Two prospective longitudinal studies.

Lung function, transfusion, pulmonary capillary blood volume and sickle cell disease.

Lung function abnormalities occur in children with sickle cell disease (SCD) and may be associated with elevated pulmonary blood volume. To investigate that association, we determined whether blood transfusion in SCD children acutely increased pulmonary capillary blood volume (PCBV) and increased respiratory system resistance (Rrs5). Measurements of Rrs5 and spirometry were made before and after blood transfusion in 18 children, median age 14.

Airway and alveolar nitric oxide production, lung function, and pulmonary blood flow in sickle cell disease.

Background: Children with sickle cell disease (SCD) often have obstructive lung function abnormalities which could be due to asthma or increased pulmonary blood volume; it is important to determine the underlying mechanism to direct appropriate treatment. In asthmatics, exhaled nitric oxide (FeNO) is elevated. FeNO, however, can also be raised due to increased alveolar production.

Airways obstruction and pulmonary capillary blood volume in children with sickle cell disease.

Objectives And Working Hypothesis: Airways obstruction occurs in young children with sickle cell disease (SCD). Our aim was to test the hypothesis that increased pulmonary capillary blood volume at least in part explained the increased airways obstruction as this would inform which therapy might be most appropriate to treat the airway obstruction.

Study Design: Observational study.

Long-term outcome for immune suppression and immune related lymphoproliferative disorder: prospective data from the United Kingdom Children's Leukaemia and Cancer Group registry 1994-2004.

Prospective national registry data on 98 patients were studied to determine the long-term outcome of immune related lymphoproliferative disease (LPD) and define prognostic factors. Seventy-three developed LPD following organ transplant (26 liver, 21 heart, 15 kidney, nine bone marrow [BM], two bowel). Twenty-five had non-transplant related immunosuppression.

Changing pattern of hospital admissions of children with sickle cell disease over the last 50 years.

A study published in 1981 examined the causes of hospital admission for a cohort of children with sickle cell disease (SCD). Since that time, the incidence and prevalence of SCD has increased markedly in the UK, and there have been many changes in the management of this disease. We undertook a study examining the causes of hospital admission of children with SCD to the same hospital as the previous study, over the 2-year period from 2008 to 2009.

Soluble CD163 levels in children with sickle cell disease.

Sickle cell disease (SCD) is characterized by vasculopathy, which has been causally linked to intravascular haemolysis and high levels of free plasma haemoglobin. Soluble CD163 (sCD163) is implicated in the clearance of free plasma haemoglobin and high plasma concentrations have been linked to arterial disease. We therefore investigated the value of sCD163 as a biomarker in children with SCD, and also measured haptoglobin levels in this population.

Portacaths are safe for long-term regular blood transfusion in children with sickle cell anaemia.

Peripheral venous access in children with sickle cell anaemia (SCA) requiring regular blood transfusions can become difficult over time. Previous reports have suggested the use of totally implantable venous access devices, Portacaths (PAC) in this patient group are associated with unacceptable high rates of complications. We present our experience in seven children with SCA over a 9-year period.

Outcome of children with sickle cell disease admitted to intensive care - a single institution experience.

We retrospectively audited children with sickle cell disease (SCD) admitted to paediatric intensive care (PICU) at King's College Hospital between January 2000 and December 2008. Forty-six children with SCD were admitted, on 49 separate occasions. Ages ranged from 4 months to 15 years (median 7.

Successful desensitization to immunoglobulin A in a case of transfusion-related anaphylaxis.

Background: A history of anaphylaxis after transfusion of immunoglobulin A (IgA)-containing blood products in selective IgA-deficient (sIgAD) patients can be a major problem, particularly in emergencies, when large quantities of blood products are required.

Case Report: A 19-year-old woman with end-stage Type 2 autoimmune hepatitis required liver transplantation as her only remaining treatment option. However, she also had sIgAD, anti-IgA antibodies, and episodes of anaphylaxis after receiving IgA-containing blood products.