Psychophysiological Predictors of Attentional Dysfunction in Children with Congenital Heart Defects

Cardiac responses to non-signal stimuli and to signal stimuli in a vigilance task were examined in children born with congenital heart defects (CHD), and in normal and attention deficit disordered (ADD) subjects. Overall task performance was lower in subjects with heart defects and in the ADD group. Cardiac measures revealed that normal children displayed significantly larger heart rate deceleration to the target stimuli than did either of the clinical groups. Moreover, although no group differences were observed in the cardiac response to non-signal auditory stimuli, exaggerated heart rate deceleration was observed to vibrotactile stimuli in both the clinical groups. Regression analyses revealed that the magnitude of the cardiac response to somatosensory stimuli was predictive of task performance (both within and between subject groups), with larger responses associated with higher error rates and lower perceptual sensitivity. Results were suggestive of a predictive relationship between somatosensory reactivity and neuropsychological maturation.     

Dicentric X-isochromosome (Xqi dic) and pericentric inversion of No. 2 inv(2) (p15) q21) in a patient with gonadal dysgenesis

A patient with the clinical stigmata of gonadal dysgenesis is presented. Cytogenetic investigations revealed two distinct structural chromosome rearrangements. One of these, an isochromosome for the long arm of the X, proved to be a dicentric element following C-banding. The second abnormality, an inherited familial marker, was a pericentric inversion of No. 2 [(inv 2) (p15q21)].     

Stratification based on language-related endophenotypes in autism: attempt to replicate reported linkage.

The identification of autism susceptibility genes has been hampered by phenotypic heterogeneity of autism, among other factors. However, the use of endophenotypes has shown preliminary success in reducing heterogeneity and identifying potential autism-related susceptibility regions. To further explore the utility of using language-related endophenotypes, we performed linkage analysis on multiplex autism families stratified according to delayed expressive speech and also assessed the extent to which parental phenotype information would aid in identifying regions of linkage. A whole genome scan using a multipoint non-parametric linkage approach was performed in 133 families, stratifying the sample by phrase speech delay and word delay (WD). None of the regions reached suggested genome-wide or replication significance thresholds. However, several loci on chromosomes 1, 2, 4, 6, 7, 8, 9, 10, 12, 15, and 19 yielded nominally higher linkage signals in the delayed groups. The results did not support reported linkage findings for loci on chromosomes 7 or 13 that were a result of stratification based on the language delay endophenotype. In addition, inclusion of information on parental history of language delay did not appreciably affect the linkage results. The nominal increase in NPL scores across several regions using language delay endophenotypes for stratification suggests that this strategy may be useful in attenuating heterogeneity. However, the inconsistencies in regions identified across studies highlight the importance of increasing sample sizes to provide adequate power to test replications in independent samples.     

Novel PCR-restriction fragment length polymorphism method for determining serotypes or serogroups of Streptococcus pneumoniae isolates

Serotyping Streptococcus pneumoniae is a technique generally confined to reference laboratories, as purchasing pneumococcal antisera is a huge investment. Many attempts have been made to modify serological agglutination techniques to make them more accessible, and more recently developments in serotyping have focused on molecular techniques. This paper describes a PCR assay which amplifies the entire capsulation locus between dexB and aliA. Amplicons are digested to produce serotype-specific patterns. We have shown, using 81 epidemiologically unrelated strains representing 46 different serotypes, that the patterns correlate with a 90 to 100% similarity range for the same serotype or serogroup. Prospective testing of 73 isolates of unknown serotype confirmed reliable serotype attribution, and serotype profiles are reproducible on repeated testing. Once our database contains all 90 serotypes, this technique should be fully portable, cost-effective, and useful in any laboratory with sufficient molecular experience.     

Isolated cardiac recurrence of acute lymphoblastic leukemia characterized by t(11;19) two years after unrelated allogeneic bone marrow transplantation

A 33-year-old male presented with acute lymphoblastic leukemia (ALL) characterized by translocation (11;19)(q23;p13.3). He received an allogeneic bone marrow transplant from a matched unrelated donor. Two years later his disease relapsed with an isolated intracardiac mass, presenting as right heart failure. He had no evidence of concomitant relapse in the bone marrow. Tumor cytogenetics revealed clonal evolution with the karyotype 46,XY,t(3;16)(q23;p13),t(11;19)(q23;p13.3), the chromosome 16 breakpoint involving the band where the genes for multidrug resistance-associated protein and CREB binding protein are known to reside. To our knowledge, this is the first report of an isolated extramedullary relapse of ALL in the heart.     

Solitary splenic metastases from lung cancer--one-time surgical procedure

Splenic metastasis from lung cancer is a rare clinical event, most often diagnosed at the time of an autopsy. We report a case of a 68 year old man with splenic metastasis from the primary lung cancer. Staging procedures before the resection of the primary lung tumor detected the splenic lesion. Upper left lobectomy and splenectomy were done by the left postero-lateral thoracotomy with phrenotomy. The rarity of solitary spleen metastasis from lung cancer and the treatment are discussed.     

Acute and chronic ethanol does not affect incisional pain in neonatal rats

We have previously found that in post-natal day 7 rats withdrawal from acute and chronic ethanol (EtOH) exposure lowers mechanical thresholds during withdrawal and exacerbates spontaneous pain responses to an inflammatory injury 4 days post-withdrawal. These findings suggested alterations in somatosensory pathways following EtOH exposure during the third trimester developmental equivalent. In this study we wanted to determine whether EtOH exposure during the third trimester equivalent exacerbates mechanical allodynia and thermal hyperalgesia produced by an incisional model of post-operative pain at post-natal day 21. The extent and duration of mechanical allodynia and thermal hyperalgesia following incision was measured and found to be unaffected by prior EtOH exposure.     

Umbilical cord blood screening for cytomegalovirus DNA by quantitative PCR.

BACKGROUND: Cytomegalovirus (CMV) infection, which is the most common congenitally transmitted infection, affects approximately 1% of neonates worldwide. Despite its prevalence, no convenient screening test for neonatal CMV infection has been implemented. OBJECTIVE: The purpose of this pilot study was to evaluate the feasibility and yield of screening umbilical cord blood for CMV DNA emiaby quantitative PCR. STUDY DESIGN: Umbilical cord blood was tested for CMV DNAemia using a commercial quantitative PCR assay. Maternal CMV serostatus at the time of delivery was assessed by testing for CMV IgG and IgM antibodies in serum. CONCLUSIONS: Screening for congenital CMV infection with PCR is easily incorporated into routine labor and delivery care using discarded cord blood specimens to identify neonates whose infection is otherwise undiagnosed. Among 433 infants tested, two (0.5%) had DNAemia detected in cord blood, one of whom was symptomatic, and both of whose mothers were CMV IgG positive and IgM negative. Viremic neonates identified by screening with PCR may be at high risk of developing long-term neurological complications of CMV infection and cannot reliably be identified using clinical presentation or maternal serology. Because of its convenience, cord blood CMV screening with PCR should be further investigated for incorporation into neonatal screening protocols.     

Immunological studies in patients with juvenile-onset myasthenia gravis and in their relatives

Fifty-four patients who developed myasthenia before the age of 20 had an increased incidence of autoantibodies similar to that in adult-onset myasthenics, except that there was no significant increase of striated muscle antibodies. The increase in thyroid antibodies was associated with an increase of thyroid disease.

Their 150 relatives showed a significant increase in thyroid antibodies, in thyroid disease, and a non-significant increase in the five other autoantibodies studied. There was aggregation of thyroid antibodies in some families.

Two patients and one relative were deficient for immunoglobulins (one patient and one father for IgA and one patient for IgM).

These familial immunological abnormalities, which are more marked in the families of patients with juvenile-onset myasthenia than in the families of adult-onset patients, point to fundamental genetic immunopathogenesis of the disease.