Constitutive hypercoagulability in pediatric sickle cell disease patients with hemoglobin SS genotype.

Background: Constitutive inflammation and hemostatic activation have been identified as key contributors to the pathophysiology of sickle cell disease (SCD), leading to clinical consequences such as vaso-occlusive crises and stroke. Patients with hemoglobin SS (HbSS) and hemoglobin SC (HbSC) genotypes are reported to have different symptoms, as do patients in steady-state and crisis situations. Differences among these groups remain unclear in pediatric patients.

Identifying and Treating Severe Bone Marrow Necrosis and Fat Embolism Syndrome in Pediatric Patients With Sickle Cell Disease: A Case Report.

Fat embolism syndrome after bone marrow necrosis is an extremely rare complication in sickle cell disease associated with significant morbidity and mortality. A high index of suspicion is required for diagnosis. This case report will assist pediatric clinicians and hematologists to recognize this severe complication in patients with sickle cell disease and to promptly initiate treatment.

Syrian Refugees and Their Impact on Health Service Delivery in the Pediatric Hematology/Oncology Clinics Across Canada.

This study examined the impact of Syrian refugees on 1 area of the Canadian health care sector. We predicted that pediatric hematology clinics across Canada would see a spike in their Syrian refugee patient population in proportion to their recent migration and, as a result, an increase in perceived workload. Data on the number of refugee patients, types of diseases, and perceived workload were gathered from hematology clinics across Canada using a clinical survey (Supplemental Digital Content 1, http://links.

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).

Background: Deadenylation regulates RNA function and fate. Poly(A)-specific ribonuclease (PARN) is a deadenylase that processes mRNAs and non-coding RNA. Little is known about the biological significance of germline mutations in PARN.

Renal dysfunction in patients with thalassaemia.

Little is known about the effects of thalassaemia on the kidney. Characterization of underlying renal function abnormalities in thalassaemia is timely because the newer iron chelator, deferasirox, can be nephrotoxic. We aimed to determine the prevalence and correlates of renal abnormalities in thalassaemia patients, treated before deferasirox was widely available, using 24-h collections of urine.

White matter integrity and core cognitive function in children diagnosed with sickle cell disease.

Children diagnosed with sickle cell disease (SCD) have an increased risk of stroke, often associated with white matter damage and neurocognitive morbidity. Growing evidence suggests that subtle changes in white matter integrity, which do not pass the threshold to be visible on a clinical magnetic resonance image and classified as stroke, may contribute to decreased cognitive performance. We used archived diffusion-weighted imaging and neurocognitive assessment data to identify associations between microstructural changes in normal-appearing white matter and cognitive performance in children with SCD.

Pediatric vasoocclusive crisis and weather conditions.

Background: Previous studies have demonstrated associations of frequency of vasoocclusive crisis with weather conditions in adults, although relationships have been inconsistent.

Objectives: Our objective was to determine if there is an association between weather conditions and pediatric emergency department (ED) visits, hospital admissions, and day and severity of pain precipitation for vasoocclusive crisis (VOC).

Methods: A retrospective observational study was performed at a large tertiary care pediatric center.

Admission and length of stay due to painful vasoocclusive crisis in children.

Purpose: To identify demographic, clinical, and laboratory characteristics associated with admission and a longer length of stay (LOS) due to vasoocclusive crisis (VOC) in children with sickle cell disease (SCD).

Methods: Retrospective chart review at a large tertiary pediatric center. Patients younger than 18 years with VOC due to SCD presenting to the emergency department were included.

Initial presentation of unscreened children with sickle cell disease: the Toronto experience.

Background: The morbidity and mortality related to sickle cell disease (SCD) has decreased since the introduction of newborn screening in the United States. Given the multicultural nature of the Canadian population and the growing African Canadian population, it is concerning that there is no national neonatal screening program for SCD in Canada. The objective of this study was to evaluate the most common manner in which SCD is diagnosed in children when neonatal screening is not available routinely.

Deferoxamine-related ocular toxicity: incidence and outcome in a pediatric population.

Purpose: Deferoxamine (DFO) is a chelating agent used widely for the treatment of transfusional hemochromatosis. DFO-related ocular toxicity has been previously reported several times, and many institutions have adopted an ophthalmic screening protocol for patients treated with DFO despite little information regarding the rate of ocular toxicity. Our study aimed to determine the incidence of DFO toxicity at a major pediatric hospital that uses regular ophthalmic screening for all DFO-treated patients.

Bone disease in thalassemia: a frequent and still unresolved problem.

Adults with beta thalassemia major frequently have low BMD, fractures, and bone pain. The purpose of this study was to determine the prevalence of low BMD, fractures, and bone pain in all thalassemia syndromes in childhood, adolescence, and adulthood, associations of BMD with fractures and bone pain, and etiology of bone disease in thalassemia. Patients of all thalassemia syndromes in the Thalassemia Clinical Research Network, > or =6 yr of age, with no preexisting medical condition affecting bone mass or requiring steroids, participated.

Is morphine exposure associated with acute chest syndrome in children with vaso-occlusive crisis of sickle cell disease? A 6-year case-crossover study.

Background: Recurrent painful vaso-occlusive crises (VOC) are a hallmark of sickle cell disease (SCD), and narcotic analgesics are an effective component of therapy. However, the belief that these drugs can promote development of the acute chest syndrome (ACS) may lead to undertreatment of pain.

Objective: The aim of this study was to explore the potential association between a dose-response effect of morphine exposure and the development of ACS in children with SCD who presented with VOC.

The prevention and treatment of bacterial infections in children with asplenia or hyposplenia: practice considerations at the Hospital for Sick Children, Toronto.

Children born without a spleen or who have impaired splenic function, due to disease or splenectomy, are at significantly increased risk of life-threatening bacterial sepsis. The mainstays of prevention are education, immunization, and prophylactic antibiotics. The availability of conjugate 7-valent pneumococcal vaccines for use in children to age 9 years at least, as well as conjugate meningococcal C vaccine in some countries, for use beginning in infancy, appear to represent beneficial additions, but not substitutions, to previous recommendations for the use of polysaccharide 23-valent pneumococcal and quadrivalent A, C, Y, W-135 vaccines.

Hepatosplenic gammadelta T-cell lymphoma in a 10-year-old boy successfully treated with hematopoietic stem cell transplantation.

The authors report a 10-year-old boy with hepatosplenic gammadelta T-cell lymphoma, a rare form of lymphoma that is highly aggressive, exceedingly rare in children, and primarily seen in young men. Conventional multi-agent chemotherapy appears to be inadequate for cure. This is the first report with this type of lymphoma in a boy less than 15 years old treated with hematopoietic stem cell transplantation (HSCT).

Cardiac failure after initiation of insulin treatment in diabetic patients with beta-thalassemia major.

Diabetes mellitus is a complication of beta-thalassemia major. Two patients are described who developed severe cardiac failure after initiation or intensification of insulin treatment. We hypothesize that insulin-induced fluid retention combined with reduced cardiac reserve was responsible for the cardiac failure.

Malignant hematological disorders in children with Wolf-Hirschhorn syndrome.

Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder attributable to a deletion at the short arm of chromosome 4. This syndrome is associated with characteristic facial appearance, multiple congenital abnormalities, mental retardation, feeding difficulties and failure to thrive. We report two girls with WHS who developed myelodysplastic syndrome (MDS).