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Biomedical subjects

A Smith

Publications and source records attributed to A Smith.

At least 487 records · Page 27Linked to original sources

"Multidimensionally impaired disorder": is it a variant of very early-onset schizophrenia?

OBJECTIVE: To examine the validity of diagnostic criteria for a subgroup of children with atypical psychosis (n = 19), designated here as "multidimensionally impaired." These children are characterized by poor attention and impulse control, psychotic symptoms, and poor affective control. METHOD: Children and adolescents (n = 19) meeting our criteria for multidimensionally impaired syndrome with onset of psychotic symptoms at or before age 12 years were identified from a total of 150 in-person screenings for very early-onset schizophrenia between 1990 and 1996. We compared the premorbid adjustment, family history, follow-up status, and laboratory measures for a subgroup of these children with those of (1) a rigorously defined group of 29 children with DSM-III-R schizophrenia and (2) 19 children with attention-deficit hyperactivity disorder. RESULTS: Patients with multidimensionally impaired syndrome and patients with very early-onset schizophrenia shared a similar pattern of early transient autistic features, postpsychotic cognitive decline, and an elevated risk of schizophrenic-spectrum disorders among their first-degree relatives. This pattern was not seen in the attention-deficit hyperactivity disorder group. In contrast to very early-onset schizophrenia, the multidimensionally impaired group had significantly poorer scores on the Freedom From Distractibility factor on the WISC-R, a less deviant pattern of autonomic reactivity, and no progression to schizophrenia. CONCLUSIONS: The findings support the distinction of the multidimensionally impaired cases as separate from those with other psychiatric disorders, and there is somewhat greater evidence to suggest that this disorder belongs in the schizophrenia spectrum.

Adolescent↗

Case series: spectrum of neuroleptic-induced movement disorders and extrapyramidal side effects in childhood-onset schizophrenia.

OBJECTIVE: Neuroleptic-treated pediatric patients with childhood-onset schizophrenia (COS) are at risk for developing extrapyramidal side effects and involuntary movement disorders. A preliminary examination of the incidence of withdrawal dyskinesias (WD), tardive dyskinesia (TD), and extrapyramidal side effects in these patients is presented. METHOD: Thirty-four COS patients (mean age +/- SD, 14.2 +/- 2.1 years) were examined for TD using the Abnormal Involuntary Movements Scale and for extrapyramidal side effects using the Simpson-Angus Neurologic Rating Scale, after a 14- to 28-day drug-free period (n = 33), at week 6 of treatment and 2 to 4 years after completion of the study (n = 14). The mean (+/-SD) number of months of prior neuroleptic exposure for the group was 22.4 (15.0) months. RESULTS: Seventeen (50%) of 34 patients were noted to have either WD or TD at some point during their participation in the studies. The majority of patients experienced WD that were mainly in the orofacial region, transient in nature, and diminished with haloperidol and clozapine. Patients with TD/WD had greater levels of premorbid impairment (p = .02), increased severity of positive symptoms of schizophrenia (p < .01), and a trend toward more months of neuroleptic exposure (p = .10, one-tailed). CONCLUSIONS: A high proportion of COS patients were found to have TD/WD. The majority of these abnormal movements were not severe and generally improved over time. TD/WD in COS appears to be associated with greater premorbid impairment, severity of illness, and duration of neuroleptic exposure. J. Am. Acad.

Adolescent↗

Mental health service use among young children receiving pediatric primary care.

OBJECTIVE: To investigate the factors associated with mental health service use among young children. METHOD: Five hundred ten preschool children aged 2 through 5 years were enrolled through 68 primary care physicians, with 388 (76% of the original sample) participating in a second wave of data collection, 12 to 40 months later. Consensus DSM-III-R diagnoses were assigned using best-estimate procedures. The test battery included the Child Behavior Checklist, a developmental evaluation, the Rochester Adaptive Behavior Inventory, and a videotaped play session (preschool children) or structured interviews (older children). At wave 2, mothers completed a survey of mental health services their child had received. RESULTS: In logistic regression models, older children, children with a wave 1 DSM-III-R diagnosis, children with more total behavior problems and family conflict, and children receiving a pediatric referral were more likely to receive mental health services. Among children with a DSM-III-R diagnosis, more mental health services were received by children who were older, white, more impaired, experiencing more family conflict, and referred by a pediatrician. CONCLUSIONS: Young children with more impairment and family conflict are more likely to enter into treatment. Services among young children of different races with diagnoses are not equally distributed. Pediatric referral is an important predictor of service use.

Chicago↗

Improvement scaling (rehabilitation version). A new approach to measuring progress of patients in achieving their individual rehabilitation goals.

OBJECTIVES: Accurate measurement of clinically relevant change in individual patients undergoing rehabilitation has been an elusive goal. Simple, clinically meaningful, patient-centered measures of individual patient change are urgently needed. The purpose of this research was the development and testing of Improvement Scaling (Rehabilitation Version)(IMS), a new approach to measuring the progress that rehabilitation patients make during treatment. METHODS: Research and clinical staff developed the 65 IMS scales and applied them to all admissions to an an inpatient rehabilitation unit. Date were collected on 292 consecutively admitted rehabilitation patients who were aged 50 or older. An Improvement Score indicates the degree to which each patient achieves the expected level of outcome on his or her unique set of IMS goals. Improvement scores were compared to Goal Attainment Scores and to scores from more traditional measures. Interrater reliability was assessed. RESULTS: IMS scores correlated r = .78 with comparable Goal Attainment Scores. IMS and Goal Attainment Scores had the same pattern of correlations with other measures. Interrater reliability of IMS scores was r = .91. CONCLUSIONS: IMS appears to be a practical, reliable, valid, and clinically useful technique for measuring individual patient change. What is needed now is replication and more information on factors which may influence IMS scores. Versions of IMS are being developed for home health care and mental health. Applications of IMS for quality assurance, quality improvement, and documentation of patient change for third parties is discussed.

Activities of Daily Living↗

Normal growth in Angelman syndrome due to paternal UPD.

We describe 2 patients with Angelman syndrome (AS) due to paternal uniparental disomy (UPD). One patient is a female aged 30 years and the other a male aged 4 1/2 years. Both have the characteristic wide mouth and big chin, moderate mental retardation, virtually no speech but some 30 words of sign language and a happy disposition with outbursts of laughter. Ataxia is minimal in both patients, manifesting mainly when they are excited or running. Both patients are tall (height around 90th percentile), have a head circumference around 75th percentile and are overweight (weight over the 97th percentile). These cases add to the knowledge of the possibility of normal or increased growth parameters, particularly weight, in AS when the genetic mechanism is paternal UPD.

Adult↗

The tryptophanase gene cluster of Haemophilus influenzae type b: evidence for horizontal gene transfer.

Among strains of Haemophilus influenzae, the ability to catabolize tryptophan (as detected by indole production) varies and is correlated with pathogenicity. Tryptophan catabolism is widespread (70 to 75%) among harmless respiratory isolates but is nearly universal (94 to 100%) among strains causing serious disease, including meningitis. As a first step in investigating the relationship between tryptophan catabolism and virulence, we have identified genes in pathogenic H. influenzae which are homologous to the tryptophanase (tna) operon of Escherichia coli. The tna genes are located on a 3.1-kb fragment between nlpD and mutS in the H. influenzae type b (Eagan) genome, are flanked by 43-bp direct repeats of an uptake signal sequence downstream from nlpD, and appear to have been inserted as a mobile unit within this sequence. The organization of this insertion is reminiscent of pathogenicity islands. The tna cluster is found at the same map location in all indole-positive strains of H. influenzae surveyed and is absent from reference type d and e genomes. In contrast to H. influenzae, most other Haemophilus species lack tna genes. Phylogenetic comparisons suggest that the tna cluster was acquired by intergeneric lateral transfer, either by H. influenzae or a recent ancestor, and that E. coli may have acquired its tnaA gene from a related source. Genomes of virulent H. influenzae resemble those of pathogenic enterics in having an island of laterally transferred DNA next to mutS.

Amino Acid Sequence↗

Localisation and semiquantitative assessment of hepatic procollagen mRNA in primary biliary cirrhosis.

BACKGROUND: Chronic liver disease is characterised by excessive deposition of collagen and other extracellular matrix proteins, produced mainly, but not exclusively, by activated hepatic stellate cells in the perisinusoidal space. In primary biliary cirrhosis (PBC) fibrosis is concentrated mainly around the portal tracts. AIMS: To examine the hypothesis that, in addition to hepatic stellate cells, portal tract fibroblasts might play a significant role in the deposition of collagen in PBC. METHODS: Fifty liver biopsy specimens from patients with PBC were studied. An in situ hybridisation technique was adapted to localise and measure semiquantitatively type I procollagen mRNA in formalin fixed, paraffin wax embedded sections, using an 35S labelled cRNA probe specific for the alpha 1 chain of rat type I procollagen. Hepatic fibrogenic activity was also assessed using serum type III procollagen peptide (PIIINP). RESULTS: In PBC, type I procollagen gene expression was significantly increased. Signal was localised mainly in and around inflamed portal tracts, to cells which had the appearances of portal fibroblasts. Signal activity in these cells correlated with the degree of portal fibrosis and inflammation and also with serum PIIINP concentrations. CONCLUSIONS: Results are consistent with the hypothesis that the excessive extracellular matrix, deposited within the liver in PBC, is synthesised not only by hepatic stellate cells but also by portal tract fibroblasts. The semiquantitative assessment of procollagen mRNA in liver biopsy specimens may provide a useful method of evaluating the rate of synthesis of collagen and therefore disease activity in patients with PBC.

Biomarkers↗

Haemoglobin Le Lamentin (alpha 20 (B1) His-->Gln) in a British family: identification by electrospray mass spectrometry.

The first identification of haemoglobin Le Lamentin (alpha 20 (B1) His-->Gln) in a British patient is described. The patient was a 69 year old asymptomatic white male being screened for diabetes, whose blood was undergoing its first ever analysis for glycated haemoglobin using a Glycomat II analyser. Identification of the haemoglobin variant was by electrospray mass spectrometry.

Aged↗

Effect on blood pressure of potassium, calcium, and magnesium in women with low habitual intake.

In populations, dietary intakes of potassium, calcium, and magnesium each have been inversely associated with blood pressure. However, most clinical trials in normotensive populations have not found that dietary supplements of these minerals lowered blood pressure. We tested the hypothesis that normotensive persons who have low habitual intake of these minerals would be particularly responsive to supplementation. Three hundred normotensive women in the Nurses Health Study II (mean age, 39 years), whose reported intakes of potassium, calcium, and magnesium were between the 10th and 15th percentiles, received for 16 weeks' duration daily supplements of either potassium 40 mmol, calcium 30 mmol (1200 mg), magnesium 14 mmol (336 mg), all three minerals together or placebos. At baseline, mean (+/-SD) 24-hour ambulatory blood pressures were 116+/-8 and 73+/-6 mm Hg systolic and diastolic, respectively, and mean dietary intakes of potassium, calcium, and magnesium were 62+/-20 mmol/d, 638+/-265 mg/d, and 239+/-79 mg/d, respectively. The mean differences (with 95% confidence intervals) of the changes in systolic and diastolic blood pressures between the treatment and placebo groups were significant for potassium, -2.0 (-3.7 to -0.3) and -1.7 (-3.0 to -0.4), but not for calcium, -0.6 (-2.2 to 1.0) and -0.7 (-2.0 to 0.6), or for magnesium, -0.9 (-2.6 to 0.8) and -0.7 (-2.2 to 0.8). The administration of calcium and magnesium with potassium did not enhance the effect of potassium alone, and the changes in blood pressure were not significant -1.3 (-3.0 to 0.4) and -0.9 (-2.2 to 0.4). In conclusion, potassium, but not calcium or magnesium supplements, has a modest blood pressure-lowering effect in normotensive persons with low dietary intake. This study strengthens evidence for the importance of potassium for blood pressure regulation in the general population.

Adult↗

Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status.

Rett syndrome and Angelman syndrome are neurodevelopmental disorders characterized by severe intellectual disability, microcephaly, speech disturbance, movement disorders with gait and/or truncal ataxia, and occasionally a similar facial appearance. Both conditions can be difficult to diagnose in girls early in their clinical course and can be difficult to distinguish from each other. Genomic imprinting is a known association in Angelman syndrome and previously has been suggested in Rett syndrome. Our aim was to evaluate the methylation status in a cohort of classical patients with Rett syndrome, using a methylation system for chromosome 15q11-13. Methylation analysis of chromosome 15 has not been previously reported in Rett syndrome. Furthermore, we document the clinical features of 31 girls with classical Rett syndrome and confirm the phenotypic similarities between Rett syndrome and Angelman syndrome. The methylation studies in these girls with Rett syndrome were normal. This excludes an imprinting error of the Angelman syndrome critical region on chromosome 15 (15q11-13) as an association with Rett syndrome, and indicates that methylation studies may be useful in distinguishing Rett syndrome from Angelman syndrome in young patients with an overlapping clinical phenotype. A normal methylation pattern, however, does not exclude the diagnosis of Angelman syndrome and clear distinction between the two syndromes will evolve over time.

Adolescent↗

Variation of patient dose in head CT.

CT dose varies with both equipment related and operator dependent factors. Thermoluminescence dosimetry (TLD) was employed in two phantoms to investigate the variation in absorbed dose for head CT scans, using a cylindrical head CT dose phantom. Dose profiles were plotted and the computed tomography dose index (CTDI) calculated for a single 10 mm thick slice on 14 CT scanners. An anthropomorphic head phantom was also scanned from the base-of-skull to the vertex using 10/10 mm slices. The absorbed dose measured at the centre of the scan series is reported (Dmid). The mean CTDIw for the 14 scanners was 60.0 mGy, while the mean Dmid was 45.8 mGy. Dmid better represents the absorbed dose in human tissues. The CTDIw and Dmid normalized to mAs varied by up to a factor of 2.2 for the different scanners. Equipment related factors contribute to such variations. However, variations due to operator dependent factors such as the choice of exposure factors, scanning protocol and positioning technique must also be considered. When such factors are taken into account the absorbed dose received by the patient can vary considerably, by as much as 16.2 for lens dose. Increased awareness of the factors influencing CT dose and the standardization of scanning protocols is recommended.

Anthropometry↗

DNA nicks and increased sensitivity of DNA to fluorescence in situ end labeling during functional spermiogenesis.

Terminal transferase can be used to quantitate DNA strand breaks in situ by labeling free 3'-hydroxyl ends with exogenous nucleotides. Endogenous nicks in DNA temporally appear and disappear during functionally significant structural rearrangements of chromatin. Fluorescence in situ end labeling of mouse and rat testicular cells demonstrated that functional spermiogenesis is associated with abundant DNA nicks that occur in elongating spermatids, most likely as a result of nucleoprotein changes during terminal differentiation. Detectable DNA breaks were not observed in round spermatids and epididymal sperm.

Animals↗

Breakfast consumption and intelligence in elderly persons.

The relationship between breakfast cereal consumption and intelligence was examined in a sample of 205 adults aged between 60 and 79 years. Those who consumed breakfast cereal every day had a higher mean score (38.4) on the National Adult Reading Test, known to correlate highly with intelligence, than that (M = 34.7) for the irregular breakfast eaters (WAIS predicted IQs for breakfast cereal everyday 118 and for irregular breakfast eaters 115).

Aged↗