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PubMed1999

Familial hypercholesterolemia in Utah kindred with novel 2412-6 Ins G mutations in exon 17 of the LDL receptor gene.

Familial hypercholesterolemia (FH) is a monogenic disorder associated with primary hypercholesterolemia. FH is characterized by autosomal co-dominant inheritance with strikingly elevated LDL-cholesterol, the presence of xanthoma and premature atherosclerosis. In the course of investigations of coronary artery disease in Utah, we identified a family whose proband showed elevated plasma levels of LDL cholesterol. To determine the genetic etiology of the lipoprotein abnormalities, we screened DNA samples from the family for mutations in all 18 exons and the exon- intron boundaries of the low-density lipoprotein receptor (LDLR) gene. Novel point mutations were identified in the proband: a one-base insertion of G to a five-G stretch at nucleotides 2412-6 (codons 783-785), causing a frameshift in exon 17 of the LDL receptor gene. The direct sequencing method was used to examine six members of the family recruited for the diagnosis. This method helped to unequivocally diagnose the five individuals as heterozygous for this particular LDL receptor mutation. This method also helped us to diagnose with FH, or to exclude from carrier status, three children between ages 6 and 11.

Child↗
PubMed1999

Familial hypercholesterolemia in Utah kindred with novel R103W mutations in exon 4 of the LDL receptor gene.

Heterozygous familial hypercholesterolemia (FH) is a serious disorder causing twice normal low-density lipoprotein cholesterol levels early in childhood and very early coronary disease in both men and women. Previously published blood cholesterol criteria greatly under-diagnosed new cases of FH among members of known families with FH and over-diagnosed FH among participants of general population screening. Thus, there is a need for accurate and genetically validated criteria for the early diagnosis of heterozygous FH. In the course of investigations of coronary artery disease in Utah, we identified a family whose proband showed elevated plasma levels of LDL cholesterol. To carry out molecular genetic diagnosis of the disease, we screened DNA samples for mutations in all 18 exons and the exon- intron boundaries of the low-density lipoprotein (LDL) receptor gene. Novel point mutations were identified in the proband: a C-to-T transversion at nucleotide position 369, causing substitution of Tryptophan for Arginine at codon 103 in exon 4 of the LDL receptor gene. The SSCP method was used to examine seven members of the family recruited for the diagnosis. This method helped to unequivocally diagnose only the proband as heterozygous for this particular LDL receptor mutation while excluding the remaining six individuals from carrier status with FH.

Adolescent↗
PubMed1995

Retrospective self-reported symptoms of attention-deficit hyperactivity disorder: reliability of the Wender Utah Rating Scale.

We measured the internal consistency and four-week temporal consistency and temporal stability of the Wender Utah Rating Scale and its 25-item short form. The Wender scale is a rationally constructed retrospective self-report rating scale for symptoms of Attention-deficit Hyperactivity Disorder. Both scales manifested excellent internal consistency. Over one month, both versions manifested significant temporal consistency and good temporal stability in the nonclinical sample of 83 successful young adults most likely to be referred for an evaluation of suspected Attention-deficit Hyperactivity Disorder. The collegiate group had a considerably higher Wender score than the original normative group, calling into question the adequacy of the limited normative data. However, both forms of the scale are reliable and comprehensive validation research is advocated.

Adult↗
PubMed2005

Reliability and validity of the Wender Utah Rating Scale for college students.

The Wender Utah Rating Scale was developed to assess adults' retrospective account of the childhood occurrence of symptoms associated with attention-deficit/hyperactivity disorder (ADHD). As little work has focused on psychometric properties of the scale for college students, it was administered to 111 college students. Because college students with ADHD experience more symptoms of depression than other students, three measures of mood-related symptoms were also administered. One month later, the Wender scale and the Beck Depression Inventory were readministered to 67 participants. On both occasions, the Wender scale had high internal consistency (r> or =2.87) and was modestly but significantly correlated with measures of mood disorder symptoms (rs ranging from .33 to .47). The scale had high test-retest reliability (r = .68). These results support its use as a component of assessment of ADHD in college students.

Adolescent↗
PubMed2001

Utah Virtual Lab: JAVA interactivity for teaching science and statistics on line.

The Utah on-line Virtual Lab is a JAVA program run dynamically off a database. It is embedded in StatCenter (www.psych.utah.edu/learn/statsampler.html), an on-line collection of tools and text for teaching and learning statistics. Instructors author a statistical virtual reality that simulates theories and data in a specific research focus area by defining independent, predictor, and dependent variables and the relations among them. Students work in an on-line virtual environment to discover the principles of this simulated reality: They go to a library, read theoretical overviews and scientific puzzles, and then go to a lab, design a study, collect and analyze data, and write a report. Each student's design and data analysis decisions are computer-graded and recorded in a database; the written research report can be read by the instructor or by other students in peer groups simulating scientific conventions.

Humans↗
PubMed2000

Genetic variation in chloroplast and nuclear ribosomal DNA in Utah juniper (Juniperus osteosperma, Cupressaceae): evidence for interspecific gene flow.

Geographic patterns of genetic variation in chlorolast (cpDNA) and nuclear ribosomal (nrDNA) DNA were examined to test the hypothesis of hybridization between Juniperus osteosperma and Juniperus occidentalis in the Great Basin of western Nevada. Noncoding DNA from the trnL-trnF intergenic spacer and the trnL intron of the chloroplast genome was sequenced from seven populations of J. osteosperma and four populations of J. occidentalis sampled over a large proportion of their respective ranges. An adenine nucleotide at position 436 in the aligned sequence and within a Tru 9I restriction site was found to be present in individuals of J. osteosperma sampled from western Colorado and central Utah, but absent in sequences of J. osteosperma sampled from central and western Nevada and all sequences of J. occidentalis. Two hundred fourteen individuals from 34 populations of J. osteosperma and J. occidentalis were then screened for cpDNA haplotype by Tru 9I digestion of the trnL-trnF polymerase chain reaction (PCR) product. Two cpDNA haplotypes were evident, each consisting of restriction fragment profiles that differed solely with respect to the presence or absence of the Tru 9I site encompassing the adenine nucleotide at position 436. One of these haplotypes was monomorphic in J. occidentalis and exhibited a decreasing frequency in J. osteosperma with increasing geographic distance from J. occidentalis in west-central Nevada. Geographic patterns in nuclear ribosomal DNA (nrDNA) variation were examined by restriction fragment analysis and, although spatially more restricted, exhibited patterns of clinal variation similar to those observed in cpDNA haplotype. Genetic relationships based on DNA sequences and geographic patterns of genetic variation in chloroplast and nuclear ribosomal DNA are consistent with morphology in suggesting interspecific gene flow between J. occidentalis and J. osteosperma.

Journal Article↗
PubMedDate not supplied

[Attention-deficit hyperactivity disorder and vulnerability to the development of alcoholism: use of the Wender-Utah Rating Scale for retrospective diagnostic of ADHD in the childhood of alcoholic patients].

UNLABELLED: In the last years, it has been accumulated data about an important association between addictions and attention-deficit hyperactivity disorder (ADHD). Both disorders share clinic aspects and relevant biological markers, and for both it has been postulated alterations in the same cerebral systems. OBJECTIVE: To evaluate the rate of possible ADHD in the early ages of adult alcoholic patients, in contrast with controls. METHOD: It was realized an adaptation of Wender-Utah Rating Scale (WURS) and it was analyzed its psychometric characteristics. It was administered to 117 alcoholic patients and to 52 controls. RESULTS: The mean score of WURS is significatively higher in alcoholic group than in the control one (32.26 vs. 16.55, p< 0.0001). The percentage of alcoholic patients who has a score upper the different cut-off points (36 and 46) is also higher in alcoholic group than in the control one (36.75% vs 7.69%; p< 0.0005; 18.8% vs. 1.92%; p< 0.01, respectively). The mean score is higher in alcoholics with other comorbid addiction than in alcoholics without it (37.61 vs. 29.17; p< 0.018), and is higher in alcoholic patients who usually have intoxicated states in an high-moderate grade than those who have it in a low-nule one. CONCLUSIONS: Among alcoholic patients exists an important group with high scores in the WURS, it could indicate high rates of ADHD in early ages. It was discused the clinic and etiopathogenetics implications, and the convenience of advancing in the developemnt of diagnostic tools.

Adult↗
PubMedDate not supplied

[Validation in the adult Spanish population of the Wender Utah Rating Scale for the retrospective evaluation in adults of attention deficit/hyperactivity disorder in childhood].

INTRODUCTION: Attention Deficit/Hyperactivity Disorder (ADHD) is one of the most common neuropsychiatric disorders in the early ages. Recently, it has been verified that presence of ADHD in early ages could be a vulnerability factor for developing different psychiatric disorders in adults, such as substance abuse and personality disorders. The retrospective diagnosis of this disorder in early ages of adult patients is specially problematic. OBJECTIVE: The Wender Utah Rating Scale (WURS) has been translated and adaptated with the purpose of validating it in the Spanish population. PATIENTS AND METHOD: It was administered the questionnaire to 266 patients of an Addictive Behaviours Unit. In 82 cases it was realized a clinical diagnosis of ADHD in early ages, and others 184 cases did not show antecedents of this disorder. RESULTS: 25 items which better discriminate cases from controls were chosen. The Cronbach s coefficient for this subscale was 0.94. The cut off 32 optimized sensitivity (91.5%) and specificity (90.8%). The positive and negative predictive values was 81% and 96% respectively. The total of incorrectly classified subjects was 9%. CONCLUSIONS: Our version of the WURS shows an adequate psychometric characteristics, that indicate an adequate validity for the detection of adult patients with antecedents of ADHD in early ages. In our population of patients with addictive behaviours, it has demonstrated to be very useful to differentiate an important subgroup of patients with antecedents of ADHD in early ages. It would be very interesting the replication of this study in other psychopathological and neurological conditions.

Adult↗
PubMed2003

New targets for fascial, ligament and tendon research: a perspective from the Utah paradigm of skeletal physiology.

Here an octogenarian voice from the past argues that the physiology of fascia, ligaments and tendons has strong and useful analogs in some general features of bone physiology, including the latter's tissue-level mechanostat. Such analogs could provide unusually important targets for future collagenous-tissue research. Even by 2002, this field's authorities seldom discussed those analogs so this text concerns them. How well the above research proceeds could depend partly on A) making collagenous- tissue physiologists aware of those analogs (hence this article), B) on following a four-step analytical strategy, C) on "connecting the dots" between evidence and ideas from many clinical and basic-science fields to find larger "messages" and patterns hidden in mountains of lesser things, D) and on combining (i), cell- and molecular-biologic work, expertise and insights, (ii) with live-animal research and expertise and insights of the Utah paradigm of skeletal physiology. Why the "in vitro/in vivo collaboration" in "D" above? Partly because few, if any, skeletal tissue-level mechanisms function normally in current cell, tissue and organ culture systems. Consequently and historically an agent's in vitro effects seldom predicted correctly its in vivo effects, although the former effects may help to explain the latter ones after other studies revealed the latter ones. Things summarized in this article provide a foundation on which to build in the future. Since aging and other things took me out of that "building game", younger people will do that building when and how, and if, they wish to. The directions for that building suggested in this article differ enough from currently accepted "wisdom" that it may take years for most physiologists to concede their merit and begin that building in earnest. If so, so be it.

Journal Article↗
PubMed2003

On the pathogenesis of osteogenesis imperfecta: some insights of the Utah paradigm of skeletal physiology.

The pathogenesis of osteogenesis imperfecta (OI) baffled physiologists and physicians for over a century. Most past efforts to explain it depended heavily on cell and molecular biology and on changes in the material properties of affected bones (an old idea that OI patients could not make enough bone erred). To such views the still-evolving Utah paradigm of skeletal physiology can add a model for bone and bones that depends on errors in three genetically-determined features. The errors include, 1,2) elevated 'set points' of the strain-dependent thresholds that help to control how lamellar bone modeling and remodeling adapt bone strength, architecture and 'mass' to the voluntary loads on load-bearing bones; 3) and a reduced modeling-rate limit for the appositional rate of the lamellar bone formation drifts that can increase bone strength, outside bone diameters, cortical and trabecular thickness, and bone 'mass'. If only abnormalities #1,#2 occurred, that should limit the eventual strength, architecture and 'mass' of load-bearing bones, while if only #3 occurred that should prolong or delay how long it took to achieve the above limits, but without changing them. Equally, in driving from New York to Boston, stopping at New Haven would prevent reaching Boston no matter how rapidly one drove (a limited trip). But by not stopping one could reach Boston by driving very slowly (a prolonged but not a limited trip). This model concerns general features of bone and bones in OI that would need study and explanation at the tissue, cellular and molecular-biologic levels. Other places and people must discuss any devils in the details, as well as collagenous tissue, auditory, dental and other problems in OI, and the effects of treatment on the above features.

Journal Article↗
PubMed2001

The Utah paradigm on animal models of skeletal disorders: quo vadis?

Skeletal disorders that need effective studies in suitable animal models include "osteoporosis", arthroses and hard and soft tissue healing. For people doing or analyzing such studies this article provides a brief overview and some salient implications of the Utah paradigm of skeletal physiology. The article leaves discussing and resolving any disagreements and controversies about such things to other times, places and people.

Journal Article↗
PubMed2000

The Frozen Shoulder syndrome plus other evidence and the Utah Paradigm suggest the syndrome's pathogenesis and new targets for collagenous tissue research.

Sometimes naturally occurring disorders combined with other evidence can provide a "virtual laboratory" exercise that answers old questions and reveals new problems and questions that need appropriately "targeted" research. This article provides an example that involves the frozen shoulder syndrome, for which varied evidence and insights of the still-evolving Utah paradigm of skeletal physiology suggest a plausible pathogenesis. It involves organ- and tissue-level vital-biomechanical features of collagenous tissues that need systematic study. The features include diametric modeling, irreversible creep, a creep compensation mechanism, the regional acceleratory phenomenon, and the signals and thresholds that can help to determine how and where those things act in anatomical space. Such features participate in many extraskeletal as well as skeletal disorders, so the frozen shoulder syndrome can provide an instructive model of them. As an aside, in over 120 consecutive cases managed by me since 1956 this syndrome resolved completely in six or less months without treatment. That shows this untreated syndrome is usually if not always self limited. While I respect the doubts of colleagues who do not agree yet, that experience shows the conclusion is correct.

Journal Article↗
PubMed2005

The benefit of combining non-mechanical agents with mechanical loading: a perspective based on the Utah Paradigm of Skeletal Physiology.

The Utah Paradigm of Skeletal Physiology with its key component, the mechanostat hypothesis, suggest plausible explanations of some of the tissue-level changes occurring from combining selected non-mechanical agents (anabolic and anti-resorptive/( re)modeling agents) with mechanical loading (osteogenic exercise) to increase bone mass and strength. The evidence for combining selected anabolic agents like parathyroid hormone, prostaglandin E(2), growth hormone, etc. with mechanical loading can increase bone mass is strong. Anabolic agents influence loading-related bone formation changes in a permissive manner and modulate (increase) the responsiveness of bone tissue to mechanical loading by changing thresholds for bone formation and resorption. However, any beneficial effect of combining selected anti-resorptive/(re)modeling agents like estrogen with loading is marginal, especially in adult skeletons. Postulated changes in modeling and remodeling thresholds (set points) and known direct effects on bone cells by non-mechanical agents may explain the observed tissue-level changes associated with large and minor increases in bone mass. Although the pharmaceutical industry has avoided considering osteogenic loading in the treatment of osteoporosis, a methodical dose-response study of anabolic agents combined with loading should: (1) provide opportunities for therapeutic intervention to imitate or enhance the osteogenic response to loading in order to correct osteopenias; (2) provide the potential to diminish the dosage of drugs required to induce bone formation in ways that enhanced efficacy and reduced any side effects; and (3) improve the quality of life and reduce the risk of falls by improving balance, gait speed and muscle strength with a non-mechanical agent like GH that could improve both muscle and bone mass and strength. Lastly, more studies are needed which determine bone strength instead of only "mass" in aged skeletons so one can assess how effective such treatments would reduce the risk of fracture in the clinic.

Anabolic Agents↗
PubMed2005

[Validity and reliability of the Turkish version of the Wender Utah Rating Scale for attention-deficit/hyperactivity disorder in adults].

OBJECTIVE: To determine reliability and validity of Turkish form of the 25 item Wender Utah Rating Scale (WURS), which is designed as an aid for diagnosis of Attention-Deficit/Hyperactivity Disorder (ADHD) in adults. METHOD: The scale was administered to 59 patients who were diagnosed as having ADHD according to DSM-IV criteria after comprehensive psychiatric and neuropsychological assessments in outpatient clinics of University of Ankara Medical School, Department of Psychiatry. Control groups consisted of 59 patients with depression, 44 patients with bipolar affective disorder in remission, and 145 healthy controls. Subjects who were illiterate and younger than 18 years of age were excluded from the study. WURS was readministered to 63 of the healthy controls after 4 weeks. RESULTS: Principal components analysis revealed 5 factors explaining 61.3% of the variance. The factors were labeled as Irritability, Depression, School Problems, Behavioral Problems/Impulsivity and Attentional Deficits. Mean factor scores of ADHD group was higher than all groups except Depression factor. Turkish form of WURS demonstrated excellent internal consistency (Cronbach's alpha= 0.93), and the test-retest coefficient for the WURS (total score) was 0.81. Item-total score correlations varied between 0.31-0.75. A cut off score of 36 or higher identified 82.5% of the adults with ADHD (sensitivity), 90.8% of the healthy controls (specificity), 66% of patients with depression, and 64.3% of patients with bipolar affective disorder correctly. CONCLUSION: Turkish form of the WURS is a reliable and valid scale in assessing childhood symptoms in adults for ADHD. However overlapping mood disorder items lowers specificity of the scale.

Adult↗
PubMedDate not supplied

Enoximone as a bridge to heart transplantation: the Utah experience.

For the past several years, the UTAH Cardiac Transplant Program has been investigating the use of enoximone, a phosphodiesterase inhibitor with unique properties, as an oral pharmacologic adjunct to conventional management of severe congestive heart failure in patients awaiting heart transplantation. The goal of this approach is not long-term survival, but the ability to maintain patients comfortably with adequate tissue perfusion until the donor heart becomes available. Enoximone exhibits both positive inotropic and vasodilator characteristics. It appears to be the only agent that produces positive inotropic effects by phosphodiesterase inhibition alone, and its effects appear to last significantly longer than those of beta-adrenergic agonists. The results of the program's clinical experience with 281 patients suggest that inotropic support with low-dose enoximone may be a useful adjunct in the short-term management of patients with severe end-stage congestive heart failure. Almost 25% of patients who had been dependent on intravenous inotropic support were able to be weaned from intravenous therapy and switched to oral enoximone. No acceleration in mortality while patients awaited transplantation was observed. The data also showed an increase in the beta 2-adrenergic receptors and a difference in the beta 1:beta 2-receptor subtype ratio of 56:42 with enoximone, compared with 65:35 in a group of failing control patients who received no enoximone. In addition, the combination of enoximone and beta-adrenergic agonists was not associated with beta-receptor down-regulation.

Actuarial Analysis↗
PubMed1990

Concordant dyslipidemia, hypertension and early coronary disease in Utah families.

A detailed family history questionnaire collected from families of 35,000 sixteen year old high school students in Utah was used to identify population-bases sibships with two or more living adults affected with hypertension under age 60 or coronary artery disease before age 55. Detailed clinical and biochemical evaluations performed during a four-hour visit to a research clinic provided data to test for concordant abnormalities in siblings with either early hypertension or early coronary heart disease. A new syndrome, familial dyslipidemic hypertension (FDH), was found in 48% of the hypertensive sibships. In these FDH subjects, 68% had HDL-cholesterol below the 10th percentile, 49% had triglyceride level above the 90th percentile, and 27% had LDL levels above the 90th percentile. When compared to normolipidemic hypertensive subjects, persons with FDH had significantly elevated fasting plasma insulin levels, increased subscapular skinfold thickness, increased knee width and wrist circumference, and increased levels of VLDL cholesterol and apolipoprotein B. In coronary sibships, concordant abnormalities for lipids were consistent with familial combined hyperlipidemia in 30-40% of sibships, FDH in 15-45% of sibships, and low HDL-C (with normal cholesterol) in 10%. Concordant normal lipids were found in only 15% of sibships. These data suggest that inherited metabolic abnormalities likely explain some co-aggregation of hyperinsulinemia, obesity, hypertension, and early coronary heart disease. Current knowledge also suggests these metabolic abnormalities could be treated or prevented with appropriate modification in lifestyle factors such as diet and exercise as well as through the use of prescription medications.

Adolescent↗
PubMedDate not supplied

Amelioration of weight gain after heart transplantation by corticosteroid-free maintenance immunosuppression. UTAH Cardiac Transplant Program.

After heart transplantation, recipients frequently become obese. Although the cause is undoubtedly multifactorial, administration of corticosteroids may contribute to posttransplant obesity. To test this hypothesis, we retrospectively reviewed the change in body weight with respect to corticosteroid use after transplantation in all 110 recipients surviving 1 year in the UTAH Cardiac Transplant Program. Fifty-two recipients (47%, group 1) were unable to be withdrawn from maintenance corticosteroids, and 58 recipients (53%, group 2) were successfully withdrawn, the latter group requiring only cyclosporine and azathioprine long-term maintenance immunosuppression. The change in weight from the time of transplantation to 1 year after transplantation in group 1 was 8.7 +/- 1.1 kg; group 2 patients gained only 4.9 +/- 0.9 kg (p = 0.009). In conclusion, successful withdrawal of maintenance corticosteroids after heart transplantation decreased posttransplant weight gain, suggesting that posttransplant obesity is in part related to use of corticosteroids.

Adrenal Cortex Hormones↗
PubMed1995

Psychometric characteristics of the Wender Utah Rating Scale (WURS): reliability and factor structure for men and women.

The goals of this study were to examine the factor structure of the Wender Utah Rating Scale (WURS), to evaluate potential gender differences in factor composition, and to assess the reliability of the scale. The WURS was completed by 310 fathers and 305 mothers of children referred for evaluation of Attention-Deficit Hyperactivity Disorder (ADHD). For males, a five-factor solution (Conduct Problems, Learning Problems, Stress Intolerance, Attention Problems, Poor Social Skills/Awkward) accounted for 72 percent of the variance. There was also a five-factor solution for females (Dysphoria, Impulsive/Conduct, Learning Problems, Attention and Organizational Problems, Unpopular) which accounted for 71 percent of the variance. Symptoms of inattention and impulsivity loaded on separate factors for both men and for women. Test-retest reliability was examined with a different sample of 57 adults who completed the WURS on two separate occasions, 1 month apart. The WURS demonstrated satisfactory internal consistency and temporal stability, and it may be a useful tool for the study of ADHD in adults.

Adolescent↗