Poor outcome after hematopoietic stem cell transplantation of patients with unclassified inherited bone marrow failure syndromes.

Classification of inherited bone marrow failure syndromes (IBMFSs) according to clinical and genetic diagnoses enables proper adjustment of treatment. Unfortunately, 30% of patients enrolled in the Canadian Inherited Marrow Failure Registry (CIMFR) with features suggesting hereditability could not be classified with a specific syndromic diagnosis. We analyzed the outcome of hematopoietic stem cell transplantation (HSCT) in unclassified IBMFSs (uIBMFSs) and the factors associated with outcome.

Androgen therapy in inherited bone marrow failure syndromes: analysis from the Canadian Inherited Marrow Failure Registry.

Progressive cytopenia is a serious complication among paediatric patients with inherited bone marrow failure syndromes (IBMFS). Androgens have been used to improve blood counts in different bone marrow failure conditions. Little is known about efficacy and toxicity with new androgens (i.

Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.

Inherited bone marrow failure syndromes (IBMFSs) are genetically heterogeneous disorders with cytopenia. Many IBMFSs also feature physical malformations and an increased risk of cancer. Point mutations can be identified in about half of patients.

Repeat irradiation for children with supratentorial high-grade glioma.

Background: There are very few studies about the role of repeat irradiation (RT2) for children with recurrent supratentorial high-grade glioma (HGG). It was the aim of this study to assess the effectiveness and safety of RT2 in this population.

Procedure: This was a retrospective cohort study of 40 children age 18 years and under with recurrent supratentorial HGG who had received at least one course of RT.

Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.

Diamond-Blackfan anemia (DBA) features hypoplastic anemia and congenital malformations, largely caused by mutations in various ribosomal proteins. The aim of this study was to characterize the spectrum of genetic lesions causing DBA and identify genotypes that correlate with phenotypes of clinical significance. Seventy-four patients with DBA from across Canada were included.

The clinical impact of copy number variants in inherited bone marrow failure syndromes.

Inherited bone marrow failure syndromes (IBMFSs) comprise a genetically heterogeneous group of diseases with hematopoietic failure and a wide array of physical malformations. Copy number variants (CNVs) were reported in some IBMFSs. It is unclear what impact CNVs play in patients evaluated for a suspected diagnosis of IBMFS.

Single nucleotide polymorphism in IL1B is associated with infection risk in paediatric acute myeloid leukaemia.

We evaluated single nucleotide polymorphisms (SNPs) associated with infection risk in children with newly diagnosed acute myeloid leukaemia (AML). We conducted a multicentre, prospective cohort study that included children aged ≤18 years with de novo AML. DNA was isolated from blood lymphocytes or buccal swabs, and candidate gene SNP analysis was conducted.

Impact of registration on clinical trials on infection risk in pediatric acute myeloid leukemia.

Little is known about the impact of enrollment on therapeutic clinical trials on adverse event rates. Primary objective was to describe the impact of clinical trial registration on sterile site microbiologically documented infection for children with newly diagnosed acute myeloid leukemia (AML). We conducted a multicenter cohort study that included children aged ≤18 years with de novo AML.

Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.

Background: Phenotypic overlap among the inherited bone marrow failure syndromes (IBMFSs) frequently limits the ability to establish a diagnosis based solely on clinical features. >70 IBMFS genes have been identified, which often renders genetic testing prolonged and costly. Since correct diagnosis, treatment and cancer surveillance often depend on identifying the mutated gene, strategies that enable timely genotyping are essential.

MRCP imaging of duplicate gallbladder: a case report and review of the literature.

Purpose: Duplicate gallbladder is a rare congenital abnormality of the hepatobiliary system that has an incidence of roughly 1 in 4000. Many surgical studies have demonstrated that congenital anomalies of the gallbladder and anatomical variations of its position are associated with an increased risk of complications after laparoscopic cholecystectomy.

Methods: Using ultrasound, MRCP and 3D reconstructions, we report a case of a 29-year-old female who was incidentally revealed to have a duplicated gallbladder.

The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes.

Inherited bone marrow failure syndromes are a group of rare, heterogeneous genetic disorders with a risk of clonal and malignant myeloid transformation including clonal marrow cytogenetic abnormalities, myelodysplastic syndrome and acute myeloid leukemia. The clinical characteristics, risk classification, prognostic factors and outcome of clonal and malignant myeloid transformation associated with inherited bone marrow failure syndromes are largely unknown. The aims of this study were to determine the impact of category, cytopathology and cytogenetics, the three components of the "Category Cytology Cytogenetics" classification of pediatric myelodysplastic syndrome, on the outcome of clonal and malignant myeloid transformation associated with inherited bone marrow failure.

Second Bacteremia During Antibiotic Treatment in Children With Acute Myeloid Leukemia: A Report From the Canadian Infections in Acute Myeloid Leukemia Research Group.

Background: The risk of second bacteremia during antibiotic treatment for initial bacteremia is unknown in high-risk populations. Our objectives were to describe the prevalence of second bacteremia during treatment and identify risk factors in children with acute myeloid leukemia (AML).

Methods: We conducted a retrospective, population-based cohort study that included children and adolescents with de novo, non-M3 AML who were diagnosed and treated between January 1, 1995 and December 31, 2004 at 15 Canadian centers.

Automatic detection of anomalies in screening mammograms.

Background: Diagnostic performance in breast screening programs may be influenced by the prior probability of disease. Since breast cancer incidence is roughly half a percent in the general population there is a large probability that the screening exam will be normal. That factor may contribute to false negatives.

Predictors and outcomes of viridans group streptococcal infections in pediatric acute myeloid leukemia: from the Canadian infections in AML research group.

Background: Viridans group streptococci (VGS) cause significant morbidity in children treated for acute myeloid leukemia (AML). Our goals were to determine the occurrence and impact of these infections in children treated for AML and to understand the factors that increase the risk of VGS infections and viridans streptococcal shock syndrome (VSSS) in this population.

Methods: We conducted a retrospective, population-based cohort study that included children ≤18 years of age with de novo AML treated at 15 Canadian centers.

First-drug treatment failures in children newly diagnosed with epilepsy.

In adults newly diagnosed with epilepsy, treatment with the first prescribed antiepileptic drug fails for approximately one half. In two studies that addressed this question in children, the failure rates were 20% and 40%. The present study used a detailed chart review of children newly diagnosed with epilepsy over a 4-year span in a major childhood epilepsy referral clinic to assess (1) the percentage of children for whom first-line antiepileptic drug treatment failed and (2) the reasons for the treatment failure.

Nutrition and the immune system from birth to old age.

For millennia, food has been at the center of social events, in times of joy and in times of sorrow. Protein-energy malnutrition is associated with a significant impairment of cell-mediated immunity, phagocyte function, complement system, secretory immunoglobulin A antibody concentrations, and cytokine production. Deficiency of single nutrients also results in altered immune response: this is observed even when the deficiency state is relatively mild.

Food hypersensitivity and allergic diseases.

Allergic disease is a common cause of morbidity, particularly in young children. The prevalence of allergic disease has increased in the last 20 y in most countries. The sequential order of occurrence of allergy is food hypersensitivity, gastrointestinal manifestations, atopic eczema, asthma and hay fever.

Managing diabetes in childhood and adolescence.

Objective: To describe management of children's and adolescents' diabetes outlining standards of care compatible with current clinical practice.

Quality Of Evidence: MEDLINE was searched using specified MeSH headings. Bibliographies of selected articles were used to find additional pertinent articles.

A randomized trial of two levels of iron supplementation and developmental outcome in low birth weight infants.

Objectives: To investigate the effect of increased iron intakes on hematologic status and cognition in low birth weight infants.

Study Design: We randomly assigned 58 infants to receive formula with 13.4 mg iron/L (normal iron) or 20.

Nutritional status of young female elite gymnasts.

The purpose of this study was to evaluate the nutritional status of a group of 10 young female elite gymnasts aged 13-17 years, who do a physical exercise of 48 h/wk. Assessment included dietary intake for 7 days, body mass index, ideal body weight, and skinfold thickness. In addition, the number of total leukocytes, total lymphocytes and lymphocyte subsets CD2, CD3, CD4, CD8, CD19 and CD56 were counted.

Food allergy and nutrition in early life: implications for later health.

Allergic diseases are a common cause of illness in most industrialized countries. Diet during early childhood is an important determinant of the development of allergy, particularly in high-risk infants who have a parental history of atopy. Maternal avoidance of highly-allergenic foods during pregnancy and lactation, prolonged exclusive breast-feeding, the use of a hydrolysed milk formula, and delayed introduction of dairy products, eggs, fish, nuts and soybean are associated with a lower incidence of allergic symptoms and signs.

Enhancement of natural immune function by dietary consumption of Bifidobacterium lactis (HN019).

Objective: To determine the effects of dietary consumption of Bifidobacterium lactis (strain HN019, DR10TM) on natural immunity.

Design: A randomized, double blind, placebo-controlled clinical trial.

Setting: Janeway Medical Centre, Memorial University, St Johns, Newfoundland.

Recent advances in the genetics of epilepsy: insights from human and animal studies.

Progress in understanding the genetics of epilepsy is proceeding at a dizzying pace. Due in large part to rapid progress in molecular genetics, gene defects underlying many of the inherited epilepsies have been mapped, and several more are likely to be added each year. In this review, we summarize the available information on the genetic basis of human epilepsies and epilepsy syndromes, and correlate these advances with rapidly expanding information about the mechanisms of epilepsy gained from both spontaneous and transgenic animal models.

Eighteen-month follow-up of infants fed evaporated milk formula.

In parts of Canada including Newfoundland and Labrador and among Aboriginal peoples, infants still consume evaporated milk (EM) formulas for cultural and economic reasons. At 3 and 6 months, full-term infants fed EM (n = 30) received low intakes of iron, thiamine, selenium and had higher weight velocity than breastfed (BF, n = 29) infants. EM infants had greater anemia, lowered transketolase activity (thiamine) and lowered glutathione peroxidase (selenium) activity (p < 0.