Search PubMed⌕ Search

Biomedical subjects

A Rupp

Publications and source records attributed to A Rupp.

At least 37 records · Page 2Linked to original sources
PubMed1996

Long-term follow-up of patients treated for phenylketonuria (PKU). Results from the Prague PKU Center.

In order to examine the association between treatment parameters and intellectual outcome, a total of 58 adolescents with phenylketonuria (PKU) treated at the PKU center of the Department of Pediatrics at the University of Prague were tested at the age of 15 years with the Prague Child Wechsler Test. Patients were classified into three groups with different levels of dietary control that remained relatively stable over time at mean phenylalanine levels of 360, 540 and 680 mumol/l. The mean level of phenylalanine was highly correlated with IQ and school education. Patients with mean phenylalanine levels of < or = 360 mumol/l had near-normal level. Initial experience with eight cases of maternal PKU underlines the necessity for a strict treatment regimen, which must be started pre-conception in order to prevent the fetus from developmental damage.

Czech Republic↗
PubMed1996

Effects of concurrent phenylalanine levels on sustained attention and calculation speed in patients treated early for phenylketonuria.

The effects of short-term and long-term phenylalanine (Phe) levels on sustained attention have been investigated in phenylketonuria (PKU) patients. Two studies, one cross-sectional with 103 patients aged 8.5-9.0 years, the other with 15 adult patients following an interventional design with experimentally manipulated concurrent Phe levels are reported. The effects of concurrent Phe levels separated from long-term Phe control on sustained attention and calculation speed in simple addition tasks were investigated. Children with low concurrent Phe levels performed significantly better than children with high concurrent Phe levels when long-term dietary control was good but not when long-term control was poor. Adult PKU patients with high concurrent Phe levels showed significantly longer reaction times and lower speed in calculation than a healthy control group. Deficits were partly reversible by lowering the concurrent Phe level over a period of 4-5 weeks. The results demonstrated the impact of concurrent Phe level on neuropsychological functioning in childhood as well as in adulthood.

Adolescent↗
PubMed1996

Intelligence and professional career in young adults treated early for phenylketonuria.

The intellectual status and professional careers of 51 young adults with phenylketonuria whose treatment started before 3 months of age are described. Their mean IQ was 97 (SD = 16). Of the IQs, 4% were more than 2 SD below the norm. The distribution of types of schooling of the patients was comparable to that in the German population. The professional careers of nearly all the patients were according to their educational level. Within the sample the outcome was significantly correlated with phenylalanine (Phe) control, even when the patients' social background was statistically taken into account. The main influence of Phe on intelligence seems to occur during the first decade of life since IQ data remain stable even after Phe levels increased during adolescence.

Adult↗
PubMed1996

Phenylketonuria: findings at MR imaging and localized in vivo H-1 MR spectroscopy of the brain in patients with early treatment.

PURPOSE: To characterize white matter changes in early-treated phenylketonuria (PKU) with magnetic resonance (MR) imaging and hydrogen-1 MR spectroscopy and to correlate these findings to biochemical control and brain function. MATERIALS AND METHODS: Fifty-one patients aged 12-33 years underwent T1-, T2-, and proton-density-weighted MR imaging and testing of intelligence, visual evoked potentials (VEPs), and neuropsychologic status (29 adult patients only). H-1 MR spectroscopy was performed in eight patients to determine brain metabolite concentrations, including phenylalanine (PHE) concentration, and brain compartmentation. RESULTS: MR imaging revealed a high frequency of supra- and infratentorial abnormalities. MR imaging grade, which was based on areas of high signal intensity on T2-weighted images, showed statistically significant correlation with long-term biochemical control and neuropsychologic test results but not with intelligence quotient or VEPs. H-1 MR spectroscopy revealed normal metabolite levels, except for increased PHE levels. It also showed enlarged cerebrospinal fluid-like compartments in affected white matter, related to plasma and brain concentrations of PHE and MR imaging grades. CONCLUSION: A synergistic use of MR imaging and MR spectroscopy may help elucidate both the pathogenesis of brain dysfunction and clinical treatment policies in PKU.

Adolescent↗
PubMed1995

Comparison of different indices of dietary control in phenylketonuria.

Ten different indices of dietary control (IDCs) applied frequently to investigate compliance of phenylketonuric patients were calculated for a set of blood phenylalanine levels for 98 patients in the German Collaborative Study of Children Treated for Phenylketonuria during their first 9 years of life. The results were compared for similarities and differences. Cluster analysis of longitudinal phenylalanine data was introduced to analyse phenylalanine blood levels independent of a priori defined criteria of classification. Three groups of good, intermediate and poor long-term dietary control were identified. Internal validation of the IDCs was corroborated by the high inter-correlations of the indices. External validity was determined by the inter-relations of the WISC-R IQ and the IDCs. The different algorithms of IDCs suggest different clinical conclusions. To facilitate comparisons of results of future research, IDCs should be standardized.

Child↗
PubMed1995

The economic consequences of not treating depression.

BACKGROUND: A conceptual framework is described for a broad cost-benefit evaluation of improved financial access to treatment of untreated affective disorders. METHOD: The analysis provides an estimate of the value of resources needed to provide improved access to treatment, and it compares these resources to the value of resources the improved access to treatment might save. RESULTS: The cost-benefit analyses based on recent cost of mental illness studies provide some evidence that appropriately treating people with untreated affective disorders is cost-beneficial. CONCLUSION: Patients, providers and buyers of health care should be further encouraged to pay more attention and to commit more financial resources to the treatment of affective disorders.

Cost-Benefit Analysis↗
PubMed1994

A new pharmophoric model for 5-HT reuptake-inhibitors: differentiation of amphetamine analogues.

A pharmacophoric model for 5-HT reuptake-inhibitors was developed using the pharmacophore elements geometry and MEP (Molecular Electrostatic Potential) by the method of active analogue approach. This model is characterized by: (1) a protonated basic nitrogen separated by 610 pm from the center of an aromatic system and 920 pm from an electronegative substituent of this aromatic system, (2) a region with n- and/or pi-electrons along the axis substituent-aromatic system-nitrogen atom, (3) an aliphatic side chain which joins the region of the n- and/or pi-electrons with the nitrogen atom, (4) an additional aromatic group at right angles to the pharmacophoric aromatic group below the protonated nitrogen and (5) a forbidden region on the pharmacophore which leads to a deviation of the allowed tubular orientation of the ligand. The pharmacophore model enables a differentiation of the entactogenic, hallucinogenic and stimulating arylalkanamines. The theoretical considerations are confirmed by a postulated intramolecular H-bonding in the active conformation of the selective 5-HT reuptake-inhibitor, citalopram (12 in Fig. 2), which could be proved by NMR- and IR-spectroscopic measurements.

Amphetamines↗
PubMed1994

Sustained attention in adult phenylketonuria: the influence of the concurrent phenylalanine-blood-level.

The effect of concurrent phenylalanine levels (Phe-level) on sustained attention was tested in a group of 19 early treated adult PKU patients. Mean age was 20.5 years; WAIS IQs were in the normal range (M = 109.3). Phe-levels were manipulated in a high-low-high design by reintroduction of a strict phenylalanine-reduced diet for 4 to 5 weeks between test time 1 and 2 and returning to usual diet between test time 2 and 3. A control group of 20 healthy subjects, mean age 20.7 years was tested twice. Results of a sustained attention task are presented. In adult PKU patients with high concurrent Phe-levels, sustained attention is significantly impaired and reaction times are prolonged. In the low Phe-level condition, performance improved significantly. Nevertheless, the PKU group did not reach the level of performance of the control group. Results are not influenced by IQ and suggest a sustained attention deficit in adult PKU patients that varies according to the concurrent Phe-level. The partial reversibility of the deficits provides support for the hypothesis that biochemical mechanisms rather than structural changes of the brain underlie the relationship between concurrent Phe-level and sustained attention.

Adolescent↗
PubMed1994

Growth and skeletal maturation in children with phenylketonuria.

Growth and skeletal maturation was evaluated in 82 children participating in the German Collaborative Study of Children Treated for Phenylketonuria (PKU). Height, weight, head circumference and bone age were recorded at regular intervals for the first 6 years of life. The mean SD score (SDS) for height was not significantly different from zero at study entry, but decreased mainly during the second year of life to a nadir of -0.78 in boys and -0.54 in girls at 2.5 years. During the subsequent years, a significant trend towards a regain of height SDS was noted in both sexes. Weight-for-height SDS was close to zero in both sexes, with a significant continuous increasing trend throughout the observation period. Head circumference SDS decreased in boys during the first year of life from -0.28 to -0.68, whereas girls showed only a minor change. During the further follow-up period, head circumference SDS remained at approximately -0.3 in boys and 0.0 in girls. While the mean verbal and performance IQ of the total study population at 5 and 6 years of age did not differ from a group of 212 healthy non-PKU children, patients with a head circumference SDS less than the population median at 2 years of age exhibited poorer cognitive abilities at school age than those patients with a relative head size greater than the population median. The children with a head circumference less than the median at 2 years had smaller head sizes already at birth; in addition, the change in relative head size during the first 2 years was correlated significantly with cognitive abilities at school age in boys. Mean bone age was identical to chronological age at each time point of observation. The rate of maturation was one year of bone age per year of chronological age. No correlation between phenylalanine intake or phenylalanine concentrations and the rates of body or head growth or skeletal maturation could be established. We conclude that despite adequate weight gain, moderate growth retardation occurred during the first 2 years of life in this group of children treated for PKU. Growth was more compromised in boys than in girls and tended to be compensated during later follow-up. Early infantile head circumference and growth appear to be predictors of cognitive development.

Age Determination by Skeleton↗
PubMed1994

Psychopathology of patients treated early for phenylketonuria: results of the German collaborative study of phenylketonuria.

At the age of 13 years, 60 adolescents, suffering from phenylalaninemia due to hydroxylase deficiency, and their mothers were simultaneously investigated with a standardized psychiatric interview in order to determine the adolescents' psychiatric status. Forty symptoms related to emotional disorders, antisocial and conduct disorders, hyperkinetic syndromes, and specific symptoms like psychophysiological pains, enuresis, encopresis, tics, stereotypies, and eating disorders were examined. Severity level was rated as undisturbed, mild, moderate, and severe disturbance. Comparison with a representative sample of 191 age mates revealed a double rate of moderate disturbances for the PKU sample. There was no association between severity level and sex as well as mean phenylalanine level during the first 13 years of the patients' lives. No PKU specific diagnosis could be determined. WISC-R-IQ below 90 was associated with a threefold risk of more severe disturbance and patients with more than three adverse familial circumstances had a 50% chance of getting a psychiatric diagnosis. It is concluded that the observed disturbances result from stress associated more with the chronic condition than with the increased phenylalanine level.

Adolescent↗
PubMed1994

Personality characteristics in patients with phenylketonuria treated early.

In the course of the German Collaborative PKU Study, the results of the Personality Questionnaire for Children (PFK 9-14) of 58 10-y-old patients treated early for phenylketonuria were analyzed. The main message of our data is that patients with phenylketonuria who were treated early and strictly did not show a higher risk for severe emotional and behavioral maladjustment compared with healthy controls at the age of 10 y. The patients were characterized only by "less masculinity of attitudes." Because no significant correlations were observed between the quality of dietary control and the results of the questionnaire, the noticed personality characteristic of the patients could be interpreted as a psychosocial consequence of the chronic disease.

Child↗
PubMed1993

Further analysis of c-Ha-ras mutations in papillomas initiated by several polycyclic aromatic hydrocarbons and papillomas from uninitiated, promoter-treated skin in SENCAR mice.

In this study we analyzed the mutations in c-Ha-ras from skin papillomas initiated with benzo[a]pyrene (B[a]P), 7-methylbenz[a]anthracene (7-MBA), and 10-fluoro-7-methylbenz[a]anthracene (10-F-7-MBA) and from papillomas induced by treatment with tumor promoter alone. Among the papillomas induced by treatment with tumor promoter alone, 56% (nine of 16) had mutations in c-Ha-ras. These mutations were found primarily in codon 61 and included both A182-->T and A182-->G mutations. In addition, one promoter-induced tumor had a G35-->A mutation in codon 12, and one had a G37-->C mutation in codon 13. The other promoter-induced papillomas did not have detectable mutations in codons 12, 13, or 61. Most of the B[a]P-initiated papillomas (77%; 10 of 13) did not have detectable mutations in c-Ha-ras codons 12, 13, or 61. However, three of these B[a]P-initiated papillomas had c-Ha-ras codon 13 mutations; one had a G37-->C transversion and two had G38-->T transversions. Most of the 7-MBA-initiated tumors and all of the 10-F-7-MBA-initiated tumors had an activated c-Ha-ras gene [nine of 10 (90%) and 11 of 11 (100%), respectively]. These mutations were almost exclusively A182-->T transversions in codon 61 except for two 7-MBA-initiated papillomas that had G37-->C transversions in codon 13. The results suggest that more than one mechanism may contribute to activation of c-Ha-ras by polycyclic aromatic hydrocarbons (PAHs) in mouse skin. Furthermore, the absence of c-Ha-ras mutations in most B[a]P-initiated papillomas, as well as in a significant fraction of those induced by tumor promoter alone, suggests that there may be other molecular targets involved in tumor initiation by PAHs in mouse skin.

Animals↗
PubMed1993

Neuroendocrine and cardiovascular effects of MDE in healthy volunteers.

The drug 3,4-methylenedioxyethamphetamine ([MDE] also known as "Eve") is a less toxic analog of 3,4-methylenedioxymethamphetamine (also known as "Ecstasy") with similar psychotropic effects in humans. In a double-blind placebo-controlled, cross-over study we administered 140 mg of MDE or placebo orally to eight healthy male volunteers at 1:30 P.M. Serum cortisol, prolactin (PRL), and growth hormone (GH) levels, as well as blood pressure, and heart rate were measured every 20 minutes until 5:00 P.M. Administration of MDE was followed by statistically significant long-lasting increases of serum cortisol, PRL, systolic blood pressure, and heart rate, and by a trend toward blunting of GH secretion. The neuroendocrine and cardiovascular effects of MDE are comparable to those of other phenethylamines with the exception of the effect on GH secretion.

3,4-Methylenedioxyamphetamine↗
PubMed1993

The costs of schizophrenia. Assessing the burden.

Much has been learned about the costs of schizophrenia during the last three decades. Assessing the costs is a challenging task given the complexity of the disease. Much can be done to refine the methodologies of cost of schizophrenia studies based on the human capital approach and to develop the conceptual framework for a consistent account of the income distribution effects of the disease. The knowledge base, however, is quite extensive and data presented here indicate that although people with schizophrenia account only for about 1% of the adult population, they consume about 2.5% of total annual health care expenditures, they constitute about 10% of the totally and permanently disabled population, and comprise as high as about 14% of the homeless population in some large urban areas. These data clearly indicate the negative economic consequences of the disease: People with schizophrenia tend to be high users of medical care and tend to concentrate in subpopulations that are highly dependent on public assistance funds as a result of the disabling nature of the disease. These negative economic consequences of schizophrenia provide a powerful economic case for developing strategies to improve treatment effectiveness through biomedical and services research.

Cost of Illness↗
PubMed1991

Underinsurance for severe mental illness.

Mental health care for the severely mentally ill in the United States is financed by a combination of public and private funds. Both public and private health insurance programs handle mental illness differently than they do other illnesses. This article documents uninsurance and underinsurance for severe mental illness in the United States based on studies conducted during the last decade. The relationship between private insurance and public assistance is analyzed, and major arguments around equality in insurance coverage for severe mental illness are examined. Alternatives for reducing uninsurance and underinsurance for severe mental illness in order to avoid undertreatment are discussed.

Chronic Disease↗
PubMed1989

Analysis of the effect of disproportionately large share of low-income patients on psychiatric costs in general hospitals.

This study focuses on the disproportionate share payment adjustment of the Medicare Prospective Payment System and examines the relationship between share of low-income patients and the cost of inpatient psychiatric care. All general hospitals without distinct psychiatric units that treated more than 20 Medicare psychiatric patients in general medical-surgical beds are included in the cost analysis. The difference between official adjustment factors and the estimates of this analysis suggests that in 16% of the large urban disproportionate share hospitals poverty psychiatric cases are systematically underpaid.

Hospitals, General↗