Occurrence of the t(2;5)(p23;q35) in non-Hodgkin's lymphoma

Primary CD30(Ki-1)-positive anaplastic large-cell lymphoma (ALCL) is considered by some to be a distinct clinicopathologic entity associated with the t(2;5) (p23;q35). However, the specificity of t(2;5) for ALCL has not been carefully studied. Therefore, we performed a detailed analysis of all cases of ALCL with abnormal cytogenetics results in the Nebraska Lymphoma Study Group registry, as well as all other cases of non-Hodgkin's lymphoma with t(2;5) in the registry. We found the t(2;5) in only five of 10 cases of ALCL, four of whom were young patients. However, we also found the t(2;5) in 11 other cases of nonanaplastic lymphoma, including eight children with typical peripheral T-cell lymphomas of various types. The t(2;5) was also found in three older adults with B-cell lymphomas of various types. Thus, the t(2;5) was not specific for CD30+ ALCL. However, t(2;5) may define a clinicopathologic entity in children and young adults characterized by variable morphologies with a T-cell or indeterminate phenotype, CD30-positivity, nodal disease with frequent extranodal involvement, advanced stage, and an excellent response to therapy, including bone marrow transplantation for relapsed disease. The clinical relevance of the t(2;5) in older patients requires further study.     

Hemorrhagic and nonhemorrhagic brain lesions: evaluation with 0.35-T fast MR imaging

Two fast magnetic resonance (MR) imaging techniques, advanced Fourier and partial-flip imaging, were used at 0.35 T to examine 21 patients with suspected intracranial lesions; the results were quantitatively compared with a conventional spin-echo study. Both of the fast MR techniques yielded a fourfold reduction in imaging time per section. The advanced Fourier sequence showed contrast that was identical to the conventional spin-echo study with signal-to-noise ratios of 58% and 57% for the first and second echoes, respectively. The partial-flip sequence showed a contrast of 109% and 57% for lesions versus substantia alba, and 107% and 78% for substantia grisea versus substantia alba relative to the first and second echoes of the conventional spin-echo study. The partial-flip sequence was particularly sensitive to magnetic susceptibility; this produced artifacts that may undermine the usefulness of partial flip for routine screening in certain parts of the brain. However, this susceptibility significantly improved the detection of intracranial hemorrhage when compared with the spin-echo sequence, particularly when combined with phase mapping of the partial-flip study.     

Parental Presence during Induction of Anesthesia: Physiological Effects on Parents

Background: The authors conducted a randomized controlled trial to determine whether parental presence during induction of anesthesia (PPIA) is associated with parental physiologic and behavioral manifestations of stress.

Methods: Children and their parents (N = 80) were randomly assigned to one of three groups: (1) PPIA; (2) PPIA plus 0.5 mg/kg oral midazolam; and (3) control (no PPIA or midazolam). The effect of the group assignment on parental heart rate (HR), parental blood pressure, and parental skin conductance level (SCL) were assessed. Both parental HR and parental SCL were monitored continually. Anxiety of the parent and child was also assessed.

Results: Parental HR increased from baseline until the induction of anesthesia (P = 0.001). A group-by-time effect (P = 0.005) was also found. That is, throughout the induction period there were several time points at which parents in the two PPIA groups had a significantly higher HR than did parents in the control group (P < 0.05). Similarly, SCL was found to increase in all parents from baseline until induction of anesthesia (P = 0.001). Significant group differences in SCL changes over time were found as well (P = 0.009). State anxiety and blood pressure following induction of anesthesia did not differ significantly between groups (P = nonsignificant). Examination of parental Holter data revealed no rhythm abnormalities and no electrocardiogram changes indicating ischemia.     

Motivation and Maternal Presence during Induction of Anesthesia

Background: The authors developed a measure to determine whether maternal motivation to be present during induction (Motivation for Parental Presence during Induction of Anesthesia [MPPIA]) is related to children's anxiety during the induction process.

Methods: Mothers and children (aged 2-12 yr) undergoing outpatient, elective surgery and general anesthesia were enrolled in this study (n = 289 dyads). Items to assess motivation for parental presence during induction were selected by experts in anesthesiology, psychology, and child development; mothers completed the resulting 14-item measure as well as assessments of anxiety and coping style. Children's anxiety and compliance was assessed during induction of anesthesia. Factor analysis was performed, and maternal motivation was then examined against children's anxiety during induction of anesthesia.

Results: Factor analysis resulted in four scales with a total variance of 72.3%: MPPIA-Desire, MPPIA-Hesitancy, MPPIA-Anxiety, and MPPIA-Preparation. Analysis supported the reliability (0.89-0.94) and validity of the MPPIA. The authors found that mothers with high MPPIA-Desire and low MPPIA-Hesitancy had children with significantly higher anxiety (P < 0.0001) during induction of anesthesia, as compared with mothers with low MPPIA-Desire and MPPIA-Hesitancy. The authors also found that highly motivated mothers reported significantly higher levels of anxiety (P = 0.007).     

Sevoflurane versus Halothane: Postoperative Maladaptive Behavioral Changes: A Randomized, Controlled Trial

Background: The authors conducted a double-blind, randomized, controlled trial to determine whether the use of sevoflurane in children undergoing anesthesia and surgery results in a higher incidence of postoperative maladaptive behavioral changes as compared with halothane.

Methods: Children and their parents (n = 102) were randomly assigned to either a halothane group (n = 50) or a sevoflurane group (n = 52). The intraoperative anesthetic protocol was strictly controlled, and the postoperative analgesic consumption and pain levels were recorded. The effect of the group assignment on emergence status and maladaptive postoperative behavioral changes was assessed both by validated psychological measures and physiologic instruments (actigraphy) on postoperative days 1-7. Anxiety of the parent and child was also assessed, as was the child's postoperative recovery (Recovery Inventory).

Results: There were no group differences in preoperative state anxiety, postoperative analgesic requirements, postoperative pain, or the incidence of emergence delirium (P = not significant). Two-way repeated-measures analysis of variance showed no group differences in the incidence of postoperative maladaptive behaviors (F4,72 = 0.60, P = 0.701) or actigraphic variables such as percent sleep, number of night awakenings, and night awakenings that lasted for more than 5 min (P = not significant).     

Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21

Tricho-dento-osseous syndrome (TDO), MIM# 190320, is transmitted as a highly penetrant autosomal dominant trait that is characterized by variable clinical expression. The principal clinical features include kinky/curly hair in infancy, enamel hypoplasia, taurodontism, as well as increased thickness and density of cranial bones. Possible genetic linkage has been reported for TDO with the ABO blood group locus, but the gene defect remains unknown. We have identified four multiplex families (n = 63, 39 affected, 24 unaffected) from North Carolina segregating TDO. We previously have excluded a major locus for TDO in the ABO region for these families. Utilizing a genome-wide search strategy, we obtained conclusive evidence for linkage of the TDO syndrome locus to markers on chromosome 17q21 (D17S791, Z max = 10.54, Theta = 0.00) with no indication of genetic heterogeneity. Multipoint analysis suggests the TDO locus is located in a 7 cM chromosomal segment flanked by D17S932 and D17S941. This finding represents the first step towards isolation and cloning of the TDO gene. Identification of this gene has important implications for understanding normal and abnormal craniofacial development of hair, teeth and bone.      

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

The Bethlem myopathy is a rare autosomal dominant proximal myopathy characterized by early childhood onset and joint contractures. Evidence for linkage and genetic heterogeneity has been established, with the majority of families linked to 21q22.3 and one large family linked to 2q37, implicating the three type VI collagen subunit genes, COL6A1 (chromosome 21), COL6A2 (chromosome 21) and COL6A3 (chromosome 2) as candidate genes. Mutations of the invariant glycine residues in the triple-helical domain-coding region of COL6A1 and COL6A2 have been reported previously in the chromosome 21-linked families. We report here the identification of a G-->A mutation in the N-terminal globular domain-coding region of COL6A3 in a large American pedigree (19 affected, 12 unaffected), leading to the substitution of glycine by glutamic acid in the N2 motif, which is homologous to the type A domains of the von Willebrand factor. This mutation segregated to all affected family members, to no unaffected family members, and was not identified in 338 unrelated Caucasian control chromosomes. Thus mutations in either the triple-helical domain or the globular domain of type VI collagen appear to cause Bethlem myopathy.