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James F Bale

Publications and source records attributed to James F Bale.

17 recordsLinked to original sources
PubMed2006

Development of performance indicators for the primary care management of pediatric epilepsy: expert consensus recommendations based on the available evidence.

PURPOSE: To use available evidence and expert consensus to develop performance indicators for the evaluation and management of pediatric epilepsy. METHODS: We used a three-step process to develop the performance indicators. First, research findings were compiled into evidence tables focusing on different clinical issues. Second, an advisory panel of clinicians, educational and public health experts, and families of children with epilepsy reviewed the evidence. The advisory group used the evidence to draft a preliminary set of performance indicators for pediatric epilepsy management. Third, 13 internationally recognized experts in pediatric neurology or epilepsy rated the value of these indicators on a 5-point scale [1 (essential) to 5 (not necessary)] in a two-round Delphi process. Positive consensus was reached if >or=80% of experts gave an indicator a "1" rating and negative consensus if >80% gave an indicator a "5" rating. Indicators that achieved positive consensus during either round of the Delphi process constituted the final set of indicators. RESULTS: Of the 68 draft performance indicators, the expert panel members achieved positive consensus on 30 performance indicators: eight indicators related to diagnostic strategies and seizure classification, nine related to antiepileptic drug use, six related to cognitive and behavioral issues, six related to quality of life, and three related to specialty referrals. CONCLUSIONS: We identified 30 potential indicators for evaluating the care provided to pediatric patients with epilepsy. The next step is to examine the relation of these performance indicators to clinical outcomes and health care utilization among pediatric patients with epilepsy.

Adult↗
PubMed2005

Herpes Simplex Virus Infections of the Newborn.

Herpes simplex virus (HSV) infection in newborns is an important cause of death and permanent neurodevelopmental disability among young children. Neonatal HSV infections can be categorized as 1) mucocutaneous (skin-eyes-mouth), 2) disseminated, or 3) encephalitic. In addition, congenital HSV infection, a distinct clinical syndrome, accounts for approximately 5% of HSV infections identified in the neonatal period. Polymerase chain reaction greatly enhances the clinician's ability to diagnosis HSV infections, but as many as 25% of infants with neonatal HSV encephalitis have negative polymerase chain reaction studies of cerebrospinal fluid. Infants with proven or suspected HSV infections should receive acyclovir 60 mg/kg/day divided every 8 hours for 14 days if disease is restricted to the skin, eyes, or mucous membranes and for 21 days if the infant has disseminated infection or encephalitis. The benefit of long-term suppression therapy after completion of the initial treatment regimen has not been established definitively. Despite therapy with acyclovir, the best available anti-HSV drug, a substantial number of HSV-infected infants with disseminated infections or encephalitis die or have long-term neurodevelopmental sequelae.

Journal Article↗
PubMed2004

Methodology of a multistate study of congenital hearing loss: preliminary data from Utah newborn screening.

A multistate Centers for Disease Control and Prevention (CDC) study was designed to investigate the etiology of congenital hearing loss in infants ascertained through state-mandated hearing screening or early hearing loss detection and intervention (EHDI) programs. At least 50% of permanent childhood-onset hearing loss is due to genetic causes, and approximately 20% of all infants with congenital hearing loss have mutations in the GJB2 gene. Another 1% of childhood hearing loss is due to mitochondrial DNA (mtDNA) mutations. The specific aims of this study are to 1) classify the etiology of congenital hearing loss in infants by doing prospective genetic evaluations of all newborns with permanent hearing loss from defined geographic areas, 2) determine the frequency of mutations in GJB2 and two common mitochondrial mutations in these populations, and 3) establish a model infrastructure linking genetic services to statewide EHDI programs. As of April 2003, Utah is the only center evaluating patients. Study subjects identified through the Utah Department of Health EHDI program are contacted by letter and offered a comprehensive medical genetics evaluation with DNA testing for GJB2 and mitochondrial mutations A1555G and A7445G. To date, 25 probands and their immediate family members have been evaluated. We have identified 20 cases with nonsyndromic hearing loss (7 multiplex and 13 simplex), 4 with syndromic hearing loss, and 1 with presumed cytomegalovirus (CMV)-induced hearing loss. Six of 19 (32%) nonsyndromic cases with sensorineural hearing loss have mutations of one or both alleles of the GJB2 gene, and 21% are homozygous or compound heterozygotes for the 35delG mutation. No A1555G or A7445G mtDNA mutations have been found. Data reported to date include only children born in Utah, but EHDI programs in Hawaii, Rhode Island, and designated areas of Georgia have begun enrolling children in what is now a multistate collaborative study. This is the first comprehensive investigation to determine the etiology of hearing loss from populations ascertained through EHDI programs. The results of this study will facilitate the incorporation of genetic services into EHDI programs.

Centers for Disease Control and Prevention, U.S.↗
PubMed2004

Molecular characterization of Streptococcus pyogenes isolates collected during periods of increased acute rheumatic fever activity in Utah.

BACKGROUND: Salt Lake City, Utah has seen a continuing resurgence of rheumatic fever (RF) since 1985. METHODS: emm genotyping and multilocus sequence typing of streptococcal isolates from periods of increased RF activity were performed. RESULTS: Multiple genotypes were present during 1985 and 1998, two peak years of RF activity, and in 1992, a year with reduced RF activity. emm3 and emm18.1 were present in 1985 and 1998, but not in 1992. Two other emm types, 12 and L28, were significantly elevated in 1998 (a peak RF year) over 1992 (a non-peak RF year). Allelic profiles for the emm3 and emm18.1 isolates exhibited clonality. CONCLUSIONS: During years of increased RF activity multiple emm types, including emm18.1 and emm3, were circulating in the community. During a year of decreased RF activity, emm3 and emm18.1 genotypes were absent. The clonality of the emm3 and emm18.1 types suggests that specific clones of both types are important in the resurgence of RF during these peak years. Two other genotypes, emm12 and emmL28, may also be associated with the persistence of RF in the Salt Lake City, UT area.

Bacterial Outer Membrane Proteins↗
PubMed2004

D8/17 and CD19 expression on lymphocytes of patients with acute rheumatic fever and Tourette's disorder.

D8/17, an alloantigen found on B lymphocytes, has been reported to be elevated in patients susceptible to rheumatic fever and may be associated with autoimmune types of neuropsychiatric disorders. The pediatric-autoimmune-neuropsychiatric-disorders-associated-with-streptococci model is a putative model of pathogenesis for a group of children whose symptoms of obsessive-compulsive disorder and Tourette's disorder (TD) are abrupt and may be triggered by an infection with group A streptococci. As a test of this model, we have examined D8/17 levels on the B cells of patients with TD and acute rheumatic fever (ARF) along with those on the B cells of normal controls by flow cytometry. We have utilized several different preparations of D8/17 antibody along with a variety of secondary antibodies but have been unable to show an association with an elevated percentage of D8/17-positive, CD19-positive B cells in either ARF or TD. We did find, however, that the percentages of CD19-positive B cells in ARF and TD patients were significantly elevated compared to those in normal controls. Group A streptococcal pharyngitis patients also had an elevated percentage of CD19 B cells, however. These studies failed to confirm the utility of determining the percentage of B cells expressing the D8/17 alloantigen in ARF patients or our sample of TD patients. In contrast, the percentage of CD19-positive B cells was significantly elevated in ARF and TD patients, as well as group A streptococcal pharyngitis patients, suggesting a role for inflammation and/or autoimmunity in the pathogenesis of these disorders.

Acute Disease↗
PubMed2004

Neurologic complications of immunization.

In the United States and many other developed countries, active immunization of children has virtually eliminated poliomyelitis, measles, rubella, tetanus, and other diseases, such as disease due to Haemophilus influenzae type b. Individual vaccines can produce systemic or neurologic reactions ranging from minor events, such as pain and erythema at the injection site, to major complications, such as seizures, shock, encephalopathy, or death. Immunization programs have also generated considerable controversy, as witnessed by recent concerns regarding the relationship between vaccines or their constituents and autism or multiple sclerosis. This review summarizes current information regarding vaccines, the diseases that they prevent, and the potential relationships between vaccines and neurologic disease.

Child↗
PubMed2004

Cerebral sinovenous thrombosis in children: another reason to treat iron deficiency anemia.

Iron deficiency anemia is a rare cause of cerebral sinovenous thrombosis in children. We report three cases of cerebral sinovenous thrombosis and iron deficiency anemia treated at Primary Children's Medical Center in Salt Lake City, Utah, between 1998 and 2001. The children were 9, 19, and 27 months old at the time of admission. Hemoglobin levels ranged from 6.6 to 7.0 g/dL, mean corpuscular volume levels from 45 to 56 fL, and platelet counts from 248,000 to 586,000/microL. Magnetic resonance imaging and magnetic resonance venography revealed thrombosis of the straight sinus and internal cerebral veins in all three children, with the addition of the vein of Galen, left transverse and sigmoid sinuses, and upper left internal jugular vein in one child. Recovery ranged from excellent to poor in 3 months to 3 years of follow-up. Four additional cases, ages 6 to 22 months, were found in the English-language literature. Evaluation for prothrombotic disorders was negative in all children, including the current cases. Treatments have included thrombectomy, corticosteroids, mannitol, heparin, low-molecular-weight heparin, warfarin, aspirin, blood transfusion, and iron supplementation, but there is no consensus regarding therapy, other than to correct the anemia and treat iron deficiency. Iron deficiency anemia, a preventable cause of cerebral sinovenous thrombosis, deserves consideration when cerebral sinovenous thrombosis is detected in young children.

Anemia, Iron-Deficiency↗
PubMed2004

6q subtelomeric deletion: is there a recognizable syndrome?

We report on a girl with an abnormal hybridization pattern for the subtelomeric fluorescence in-situ hybridization (FISH) probe panel showing deletion of the long arm telomeric region of chromosome 6. All other subtelomere DNA probes showed normal hybridization patterns. Metaphase cells analysed from cultures of peripheral blood revealed a normal female chromosome complement at the 650-band level. The deletion was further characterized using genomic microarray analysis. Clinical findings include: developmental delay, seizures, hypoplasia of the corpus callosum, dextrocardia, unusual dimpling of knees and elbows, and minor anomalies. We are aware of only two other reports of isolated cryptic 6q subtelomeric deletions not associated with other chromosomal abnormalities. The absence of retinal abnormalities in our case supports the theory that genes responsible for the retinal abnormalities in other terminal 6q deletions are proximal to 6q27. Subtelomeric FISH probes were useful in establishing a diagnosis in our patient. As more cases are reported, we may be able to establish discrete phenotypes and natural histories that can aid in counselling families.

Chromosome Deletion↗
PubMed2002

Congenital infections.

Despite major medical advances, such as the introduction of the rubella vaccine and prolonged postnatal therapy of infants with congenital toxoplasmosis, intrauterine infections remain important causes of deafness, vision loss, and behavioral or neurologic disorders among children worldwide. This article describes the common pathogens causing intrauterine infections and summarizes the current status of diagnosis, treatment, and prevention.

Brain↗
PubMed2002

Ethical issues in clinical practice: cases and analyses.

Given the severity and complexity of the neurologic disorders that can affect infants and children, pediatric neurologists frequently encounter complex and challenging ethical issues. This discussion uses five cases to illustrate common ethical issues and dilemmas that are confronted by pediatric neurologists. These cases involve the provision of artificial nutrition and hydration to patients in vegetative or minimally conscious states, the use of mechanical ventilation for patients with spinal muscular atrophy, controversial therapies for autistic spectrum disorders, the use of medical information obtained over the Internet, and genetic testing in children with suspected Huntington's disease. The ethical concepts discussed in these cases include autonomy, confidentiality, futility, surrogate decision-making, the best-interest principle, and the withholding and withdrawal of treatment.

Brain Damage, Chronic↗
PubMedDate not supplied

Sensorineural hearing loss in children.

During the past three to four decades, the incidence of acquired sensorineural hearing loss (SNHL) in children living in more developed countries has fallen, as a result of improved neonatal care and the widespread implementation of immunisation programmes. The overall decrease has been accompanied by a relative increase in the proportion of inherited forms of SNHL. The contribution made by one gene in particular, GJB2, to the genetic load of SNHL has strongly affected the assessment and care of children with hearing loss. These changes in the incidence of SNHL have not been seen in children living in less developed countries, where the prevalence of consanguinity is high in many areas, and both genetic and acquired forms of SNHL are more common, particularly among children who live in poverty. Focused genetic counselling and health education might lead to a decrease in the prevalence of inherited SNHL in these countries. Establishment of vaccination programmes for several vaccine-preventable infectious diseases would reduce rates of acquired SNHL. Although the primary purpose of such programmes is the prevention of serious and in many cases fatal infections, a secondary benefit would be a reduction in disease-related complications such as SNHL that cause permanent disability in survivors.

Child↗