Quantitative trait locus for reading disability on chromosome 6p is pleiotropic for attention‐deficit/hyperactivity disorder

Comorbidity is pervasive among both adult and child psychiatric disorders; however, the etiological mechanisms underlying the majority of comorbidities are unknown. This study used genetic linkage analysis to assess the etiology of comorbidity between reading disability (RD) and attention‐deficit hyperactivity disorder (ADHD), two common childhood disorders that frequently co‐occur. Sibling pairs (N = 85) were ascertained initially because at least one individual in each pair exhibited a history of reading difficulties. Univariate linkage analyses in sibling pairs selected for ADHD from within this RD‐ascertained sample suggested that a quantitative trait locus (QTL) on chromosome 6p is a susceptibility locus for ADHD. Because this QTL is in the same region as a well‐replicated QTL for reading disability, subsequent bivariate analyses were conducted to test if this QTL contributed to comorbidity between the two disorders. Analyses of data from sib pairs selected for reading deficits revealed suggestive bivariate linkage for ADHD and three measures of reading difficulty, indicating that comorbidity between RD and ADHD may be due at least in part to pleiotropic effects of a QTL on chromosome 6p. © 2002 Wiley‐Liss, Inc.     

Neuroimaging of NREM sleep in primary insomnia: a Tc-99-HMPAO single photon emission computed tomography study

STUDY OBJECTIVES: The objectives of this study were to: 1) demonstrate the feasibility of combining polysomnography and SPECT neuroimaging to study NREM sleep in primary insomnia and 2) evaluate possible functional CNS abnormalities associated with insomnia. DESIGN: Patients with insomnia and good sleeper controls were studied polysomnographically for three nights with a whole brain SPECT Scan of NREM sleep on Night 3. Groups were screened for medical/psychiatric history, substance use, and matched on age, body mass index, and education. SETTING: Sleep Research Laboratory and Nuclear Medicine Center PARTICIPANTS: Nine females, 5 patients with chronic psychophysiologic insomnia and 4 healthy good sleepers (mean age 36 years, SD 12, range 27-55). INTERVENTIONS: N/A MEASUREMENTS AND RESULTS: Tomographs of regional cerebral blood flow during the 1st NREM sleep cycle were successfully obtained. Contrary to our expectations, patients with insomnia showed a consistent pattern of hypoperfusion across all 8 pre-selected regions of interest, with particular deactivation in the basal ganglia (p=.006). The frontal medial, occipital, and parietal cortices also showed significant decreases in blood flow compared to good sleepers (p<.05). Subjects with insomnia had decreased activity in the basal ganglia relative to the frontal lateral cortex, frontal medial cortex, thalamus, occipital and parietal cortices (p<.05). CONCLUSIONS: This study demonstrated the feasibility of combining neuroimaging and polysomnography to study cerebral activity in chronic insomnia. These preliminary results suggest that primary insomnia may be associated with abnormal central nervous system activity during NREM sleep that is particularly linked to basal ganglia dysfunction.     

The role of a nested polymerase chain reaction in the diagnosis of Pneumocystis carinii pneumonia

Aim—To compare the techniques and results of a nested PCR and an immunofluorescence assay (IFA) for the detection of Pneumocystis carinii infection; to consider the role of the nested PCR in the diagnosis of P carinii pneumonia (PCP).     

Influence of Mucoid Coating on Clearance of Pseudomonas aeruginosa from Lungs

Pulmonary infection with mucoid strains of Pseudomonas aeruginosa in present in the majority of cystic fibrosis patients with chronic lung disease. It has been postulated that this mucoid coating may act to decrease lung clearance of Pseudomonas by limiting access of phagocytes, antibodies, and antibiotics to the bacteria. To determine whether mucoid coating of Pseudomonas might decrease intrapulmonary killing, groups of guinea pigs were infected with intrabronchial instillations of equivalent numbers of mucoid and nonmucoid Pseudomonas. For this study, mucoid strains of Pseudomonas were obtained from cystic fibrosis sputa and passaged on blood agar plates to obtain their nonmucoid revertants. Animals were then sacrificed at timed intervals after infection, and quantitative cultures were performed on lung homogenates. In all cases, mucoid challenge strains retained their mucoid morphology after passage in guinea pig lungs. No difference in killing of mucoid and nonmucoid Pseudomonas could be detected at 6, 24, or 48 h after lung infection. Further challenge studies used guinea pigs that were either prevaccinated with lipopolysaccharide P. aeruginosa vaccine or else treated with tobramycin sulfate after infection. Nonvaccinated or untreated controls had reduced intrapulmonary killing of Pseudomonas compared with vaccinees or treated groups (P < 0.02 and P < 0.01, respectively). However, there were no differences in pulmonary killing of mucoid and nonmucoid Pseudomonas in the presence of either specific antibodies or antibiotic. We conclude from these studies that mucoid coating of Pseudomonas does not selectively impede mechanisms of intrapulmonary killing in guinea pig lungs.     

The anterior visceral branches of the abdominal aorta and their relationship to the renal arteries

Variations in the anatomy of the abdominal aorta and its branches are of interest as vessel geometry not only determines flow dynamics, but is also crucial in the pathogenesis of vascular disease. The relationship between the anterior visceral and renal arteries is important when undertaking diagnostic arteriography and endovascular interventions. To examine these relationships, the length of the abdominal aorta was determined and measurements taken of the position of origin of the celiac artery, superior mesenteric artery (SMA), inferior mesenteric artery (IMA) and renal arteries, as well as the three-dimensional projection of each vessel from the aorta. The mean level of bifurcation of the aorta was at the lower third of the body of L4, with the celiac artery, SMA, renal arteries and IMA arising at the level of the T12/L1 intervertebral disc, upper third of the body of L1, lower third of the body of L1 and lower third of the body of L3, respectively. The horizontal projection of the celiac artery, SMA and IMA was to the left of the midline; in the sagittal plane, the celiac artery and SMA projected anteriorly and the IMA posteriorly; in the coronal plane all vessels projected inferiorly, with the SMA to the right and the IMA to the left. The celiac artery, SMA and both renal arteries all arise from the proximal half of the abdominal aorta within 45 mm of each other, with the origins of the renal arteries being remarkably consistent. It is concluded that the celiac artery and SMA are both useful landmarks for determining the position of the renal arteries.     

A clinical calculator for predicting intraoperative blood loss and transfusion risk in spine tumor patients

BACKGROUND CONTEXTSurgery for vertebral column tumors is commonly associated with intraoperative blood loss (IOBL) exceeding 2 liters and the need for transfusion of allogeneic blood products. Transfusion of allogeneic blood, while necessary, is not benign, and has been associated with increased rates of wound complication, venous thromboembolism, delirium, and death.PURPOSETo develop a prediction tool capable of predicting IOBL and risk of requiring allogeneic transfusion in patients undergoing surgery for vertebral column tumors.STUDY DESIGN/SETTINGRetrospective, single-center study.PATIENT SAMPLEConsecutive series of 274 patients undergoing 350 unique operations for primary or metastatic spinal column tumors over a 46-month period at a comprehensive cancer centerOUTCOME MEASURESIOBL (in mL), use of intraoperative blood products, and intraoperative blood products transfused.METHODSWe identified IOBL and transfusions, along with demographic data, preoperative laboratory data, and surgical procedures performed. Independent predictors of IOBL and transfusion risk were identified using multivariable regression.RESULTSMean age at surgery was 57.0±13.6 years, 53.1% were male, and 67.1% were treated for metastatic lesions. Independent predictors of IOBL included en bloc resection (p<.001), surgical invasiveness (β=25.43 per point; p<0.001), and preoperative albumin (β=?244.86 per g/dL; p=0.011). Predictors of transfusion risk included preoperative hematocrit (odds ratio [OR]=0.88 per %; 95% confidence interval [CI, 0.84, 0.93]; p<0.001), preoperative MCHgb (OR=0.88 per pg; 95% CI [0.78, 1.00]; p=0.048), preoperative red cell distribution width (OR=1.32 per %; 95% CI [1.13, 1.55]; p<0.001), en bloc resection (OR=3.17; 95%CI [1.33, 7.54]; p=0.009), and surgical invasiveness (OR=1.08 per point; [1.06; 1.11]; p<0.001). The transfusion model showed a good fit of the data with an optimism-corrected area under the curve of 0.819. A freely available, web-based calculator was developed for the transfusion risk model (https://jhuspine3.shinyapps.io/TRUST/).CONCLUSIONSHere we present the first clinical calculator for intraoperative blood loss and transfusion risk in patients being treated for primary or metastatic vertebral column tumors. Surgical invasiveness and preoperative microcytic anemia most strongly predict transfusion risk. The resultant calculators may prove clinically useful for surgeons counseling patients about their individual risk of requiring allogeneic transfusion.     

Taurolin for the prevention of parenteral nutrition related infection: antimicrobial activity and long-term use

A case is described in which bis (1, 1 dioxoperhydro-1, 2, 4-thiadiazinyl-4-) methane (Taurolin) has saferly been administered on a long term basis to prevent recurrent sepsis in a patient receiving parenteral nutrition. A 26-year-old male with Crohn's disease receiving parenteral nutrition suffered repeated episodes of sepsis and developed an infected intra-atrial thrombus despite repeated courses of antimicrobial chemotherapy and surgical intervention. Continued parenteral nutrition was essential du5e to intestinal failure. Taurolin was administered in the parenteral feed, as a 0.3% solution, to prevent recrudescent and recurrent infection. This concentration was shown, in vitro, to be bactericidal to a variety of pathogenic organisms. No recurrence of sepsis, nor any evidence of side effects was observed throughout the 12 month period of Taurolin administration. After 12 months the taurolin was discontinued and within 2 weeks the patient was re-admitted with recurrent septicaemia. Following re-introduction of Taurolin the infection was controlled and the patient remains well. In our experience the addition of taurolin to the nutritive feeds of a patient at risk of sepsis is a safe and effective method of preventing recurrent sepsis.     

Social cognition skills among females with fragile X

Emotion perception and perspective-taking skills were examined among women with or without the fragile X gene. The performance of 56 control women was compared to the performance of 46 women who were carriers of the fragile X gene. Twenty-seven of the carrier women had 0–1% cytogenetic expression and did not appear affected by the gene, whereas the remaining 19 women had 2% cytogenetic expression and did appear affected by the gene. The emotion perception task employed was one for which deficits have been reported among individuals with autism. The results show that performance on this emotion-perception test and the perspective-taking measure was significantly related to full-scale IQ scores, but not to fragile X group status when effects of IQ were removed. Thus the results do not support the hypothesis that perspective-taking or emotion perception deficits are a component of the fragile X phenotype in females and represent an important differentiation between fragile X and autism.This research was supported by NIMH Grant MCJOOO252 U.S. Department of Health and Human Services, Bureau of Maternal and Child Health; and by grant MH45916 U.S. National Institutes of Health (NIMH). Randi J. Hagerman and Michele M. M. Mazzocco received additional support from a grant from Joslins Department Store, Denver, Colorado. Hagerman received support from grant RR-69 from the General Clinical Research Program, National Center for Research Resources, National Institutes of Health. Bruce F. Pennington was supported by an RSDA (MH0419) and MERIT award (MH38870) from NIMH, as well as by an NICHD Center Grant (HD27802). The authors thank all the women who participated in the study and Dennis Lucky and Barrett Jeffers from the Kempe Research Center at The Children's Hospital.     

Auditing the effect of experience and change on home parenteral nutrition related complications

A prospective record of all patients receiving home parenteral nutrition (HPN) in Tayside since 1980 has been used to audit the effect of experience and specific policy changes on HPN related complications. Total HPN related complications fell significantly over the years from 1.59 complications per treatment year during the initial 5 years of HPN experience to the current rate of 0.36 complications per treatment year. Specific policy changes, such as modification of the glucose concentration of feed, could also be shown to produce a significant benefit in the reduction of complications. Increasing experience with HPN results in a fall in complication rates, however, continuous audit of HPN is essential to determine the effect of policy changes on complication rates.