Potential prevention of neural tube defects by assessment of women of childbearing age through monitoring of folate.

Background: Three quarters of neural tube defects (NTD) can be prevented by sufficient dietary folate supplementation. Despite this knowledge, most women do not supplement their diet effectively. Red cell folate concentrations correlate with the risk of NTD, and levels of less than 900 nM are associated with an increased risk of these serious congenital anomalies.

Idiopathic scoliosis in families of children with congenital scoliosis.

Although most cases of congenital scoliosis are thought to be of sporadic etiology, it is not known whether other types of spinal deformity occur in families of individuals with this type of scoliosis. Children with congenital scoliosis were identified through a review of health records and radiographic report databases. Of 237 children with congenital scoliosis investigated, 49 (20.

A classification for genetic disorders of interest to orthopaedists.

The genetic etiology of many disorders of interest to the orthopaedist now is known. Based on this information, these disorders can be grouped broadly based on the function of the causative gene into five categories: structural, tumor and cell regulatory, developmental, important in nerve or muscle function, and protein processing (enzymes). In addition, some disorders are caused by large chromosomal abnormalities, which comprise a sixth class.

Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study.

Objectives: Shwachman-Diamond syndrome (SDS) is characterized by varying degrees of marrow failure. Retrospective studies suggested a high propensity for malignant myeloid transformation into myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). The study's aims were to determine the cellular and molecular characteristics as well as the clinical course of malignant myeloid transformation and clonal marrow disease in patients with SDS.

DDAVP challenge tests in boys with mild/moderate haemophilia A.

Desmopressin (DDAVP) increases plasma factor VIII coagulant activity (FVIII:C) levels in patients with mild/moderate haemophilia A. In some subjects, FVIII can be increased to haemostatic levels, thereby avoiding use of factor VIII concentrates. We reviewed our hospital's experience with 62 boys with FVIII:C levels 0.

Neural response telemetry in 12- to 24-month-old children.

The minimum age for cochlear implantation has been reduced to 12 months in an effort to provide auditory stimulation to children with hearing loss during early development. Because behavioral measures in such young children are limited, objective measures such as the electrically evoked compound action potential (EAP) from the auditory nerve are needed to facilitate measurement of stimulation level requirements. We assessed EAPs recorded by the Nucleus 24 neural response telemetry (NRT) system in children who underwent implantation between 12 and 24 months of age.

A role for the subcellular localization of Bax in differentiation-induced resistance to apoptosis in HL-60 cells.

The promyelocytic leukemia cell line HL-60 was induced to undergo granulocytic differentiation by treatment with dimethyl sulphoxide (DMSO). The differentiated HL-60 cells were resistant to apoptosis induction by etoposide treatment. The resistant cells did not show evidence of cytochrome c release from the mitochondria or cleavage of caspase-3.

Diabetic ketoacidosis and cerebral edema.

Cerebral edema is the leading cause of death in children presenting in diabetic ketoacidosis and occurs in 0.2 to 1% of cases. The osmolar gradient caused by the high blood glucose results in water shift from the intracelluar fluid (ICF) to the extracellular fluid (ECF) space and contraction of cell volume.

Ethical framework for observational studies of medicinal drug exposure in pregnancy.

Background: The conduct of human research in the teratogenicity of drugs, chemicals, radiation and infections is needed in order to close critical gaps in knowledge.

Methods: We reviewed the various aspects of the ethics of conducting prospective human research in teratogenicity.

Results: Such research should respect the confidentiality of pregnant women and their families.

Childhood asthma admissions: determinants of short stay.

The objective of this study was to identify the determinants of short hospital stay (< 24 h) among children admitted because of an acute asthma exacerbation. Computerized health records were used to identify children with a discharge diagnosis of asthma (ICD code 493.0) at the Hospital for Sick Children, Toronto, during the period October 1994 to October 1995.

Use of an implantable loop recorder in the evaluation of children with congenital heart disease.

Background: A recently developed implantable loop recorder (ILR) has been used in adult patients whose syncope remains unexplained in spite of extensive investigations. Syncope in the patient with congenital heart disease presents a diagnostic challenge. We applied this technology to a cohort of pediatric patients.

Evaluation of four breath-enhanced nebulizers for home use.

The objective of this study was to evaluate relative efficiency in vitro of four reusable breath-enhanced nebulizers (Pari LC Star, Medic-Aid Ventstream, Devilbiss PermaNeb, Salter Ultramist), and to integrate the in vitro performance data of the nebulizers with the respiratory patterns of four cystic fibrosis (CF) patients to compare efficiency in vivo of each device for each individual patient. Six nebulizers of each type were used to nebulize a solution of 2.5 mg (0.

The kinase-null EphB6 receptor undergoes transphosphorylation in a complex with EphB1.

Uniquely for the Eph family of receptor tyrosine kinases, the EphB6 receptor is catalytically inactive due to the alteration of several critical residues in its kinase domain. This has cast doubt upon its ability to participate in cytoplasmic signaling events. We show here that despite its lack of kinase activity, EphB6 undergoes inducible tyrosine phosphorylation upon stimulation with the Eph-B receptor subfamily ligand ephrin-B1.

Levamisole vs. cyclophosphamide for frequently-relapsing steroid-dependent nephrotic syndrome.

A retrospective analysis comparing the first-time use of levamisole (L) or cyclophosphamide (C) as second-line therapy for children with frequently relapsing, steroid-dependent (FR/SD) nephrotic syndrome, was conducted at our center. The relapse rate and the total cumulative dose of prednisone during the year prior to L/C therapy was compared to that during the year following the institution of therapy with L or C in 51 patients, between July 1992 and June 1997. An analysis of covariance was used to adjust the outcome for differences between the 2 groups of treatment in the year prior to second-line drug initiation.

Moderators and mediators of long-term adherence to stimulant treatment in children with ADHD.

Objective: To identify moderators and mediators of long-term adherence to stimulant medication in children with attention-deficit hyperactivity disorder (ADHD).

Method: Seventy-one children with ADHD were prescribed methylphenidate, followed prospectively on an annual basis for 3 years, and evaluated for adherence to stimulant treatment. The study occurred in Toronto between 1993 and 1997.

Lafora's disease: towards a clinical, pathologic, and molecular synthesis.

Lafora's disease is one of five inherited progressive myoclonus epilepsy syndromes. It is an autosomal-recessive disorder with onset in late childhood or adolescence. Characteristic seizures include myoclonic and occipital lobe seizures with visual hallucinations, scotomata, and photoconvulsions.

Dipole localization for identification of neuronal generators in independent neighboring interictal EEG spike foci.

Purpose: We evaluated dipole localizations of independent neighboring interictal spike foci using scalp electroencephalogram (EEG) to identify neuronal generators of epileptic discharges.

Methods: Three pediatric patients with extratemporal lobe epilepsy who had two independent neighboring interictal spike foci on scalp EEG were studied. Prolonged video EEG was digitally recorded from 19 scalp electrodes, whose positions were registered using a three-dimensional digitizer.

Tcf-3 expression and beta-catenin mediated transcriptional activation in aggressive fibromatosis (desmoid tumour).

Aggressive fibromatosis harbours mutations resulting in beta-catenin protein stabilization. Primary cell cultures demonstrate constitutive tcf activation in aggressive fibromatosis. Expression and co-immunoprecipitation studies suggest that beta-catenin binds and activates tcf-3 in this tumour.

Unilateral recession and resection in Duane syndrome.

Purpose: To assess the efficacy of lateral rectus resection with medial rectus recession in the affected eye of patients with Duane retraction syndrome (DRS) with esotropia and limited abduction, compared with bilateral medial rectus recessions.

Methods: The charts of 9 patients with DRS who underwent a recession-resection procedure and 10 patients with DRS who underwent bilateral medial rectus recessions were reviewed. Ocular ductions (graded from 0 = full duction to -4 = total deficit), severity of retraction, alignment, head position, and binocular single vision field (for study group only) were recorded before and after surgery.

Glyburide and fetal safety; transplacental pharmacokinetic considerations.

Oral hypoglycemics have been avoided in pregnancy due to their potential to cause fetal hyperinsulinemia/hypoglycemia. A recent human study has shown glyburide to minimally cross the placenta, allowing a safe new treatment for gestational diabetes. The mechanisms for the minimal placental passage of this small molecule are not clear.

Chickenpox and stroke in childhood: a study of frequency and causation.

Background And Purpose: The purpose of this study was to determine whether infection with varicella is causal for arterial ischemic stroke (AIS) in children.

Methods: First, a prospective cohort study was conducted in young children (aged 6 months to 10 years) with AIS at 2 institutions (cohort study). The presence of varicella infection <12 months before AIS was determined and compared with the published frequency of varicella infection in the healthy pediatric population.

Hospital-based adolescent substance abuse treatment: comorbidity, outcomes, and gender.

Positive change was demonstrated on a number of self-report scales administered to 129 adolescents at a hospital-based substance abuse program, of whom 72 were posttested after 8 weeks. Female subjects showed change on more measures than male subjects, and a greater number of female subjects went from the clinical to subclinical range. Based on number of sessions attended, subjects were grouped by "dose" into either "hi-attenders" or "lo-attenders.