bluuebunny/crossref_metadata_2025 huggingface dataset:
Physical activity and angiotensin‐converting enzyme gene polymorphism in mild hypertensives
Authors: Winnicki Mikolaj , Accurso Valentina , Hoffmann Michal , Pawlowski Ryszard , Dorigatti Francesca , Santonastaso Massimo , Longo Daniele , Krupa‐Wojciechowska Barbara , Jeunemaitre Xavier , Pessina Achille C. , Somers Virend K. , Palatini Paolo
Published: January 2004

It has been suggested that the insertion(I) allele of the I/deletion(D) polymorphism of the angiotensin converting enzyme (ACE) gene is associated with endurance exercise and increased physical conditioning in response to this type of exercise. To investigate the association between the ACE I/D polymorphism and physical activity status in 355 never treated, stage I hypertensives (265 men, 90 women, mean age: 33 ± 9 years), in whom power exercise is contraindicated, participants of the HARVEST study. Physical activity was assessed using a standardized questionnaire. BMI and age did not vary among genotypes. None of active subjects performed power oriented exercises. ACE I/D frequencies (II‐18%, ID‐55%, DD‐27%) were in Hardy–Weinberg equilibrium. Sedentary lifestyle was more common among DD than II hypertensives (76% in DD, and 48% in II, Chi2 = 13.9, P = 0.001). In stepwise MANOVA using age, marital status, profession, sex, and ACE genotype as predictors of physical activity, marital status (F = 24.4, P < 0.0001) and ACE genotype (F = 16.03, P < 0.0001) contributed to more than 50% of the variance in physical activity status of the population. Our results suggest that the ACE I/D polymorphism may be a specific genetic factor associated with physical activity levels in free‐living borderline and mild hypertensive subjects. © 2003 Wiley‐Liss, Inc.
Mutations in the optineurin gene in Japanese patients with primary open‐angle glaucoma and normal tension glaucoma
Authors: Toda Yoshiki , Tang Sa , Kashiwagi Kenji , Mabuchi Fumihiko , Iijima Hiroyuki , Tsukahara Shigeo , Yamagata Zentaro
Published: January 2004

The optineurin gene (OPTN) was identified as a gene that causes primary open‐angle glaucoma (POAG) and normal tension glaucoma (NTG). To investigate the frequency of sequence changes in OPTN in Japanese glaucoma patients, single‐strand conformation polymorphism analysis and subsequent sequence analysis were performed for genotyping OPTN in 165 unrelated Japanese patients with POAG and 148 patients with NTG, with 196 control subjects without glaucoma as reference subjects. Out of four mutations reported to be associated with risk and to cause disease in Caucasian patients, sequence alterations in 458G > A and 691_692insAG were not detected in any investigated Japanese patients with glaucoma, and alterations in 1944G > A and 603T > A, were present in similar frequencies in glaucoma patients and control subjects. The current results suggest that there may be certain racial differences between Japanese and Caucasians with respect to OPTN genotypes. © 2003 Wiley‐Liss, Inc.
Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo‐Morquio type II syndrome): Report of a new patient and review of the literature
Authors: Mégarbané André , Maroteaux Pierre , Caillaud Catherine , Le Merrer Martine
Published: January 2004

An 11‐year‐old girl was seen with short stature, a head positioned in hyperextension, mild arched palate, prominent joints, limited elbow movements, hyperextensible wrists and fingers, brachydactyly, broad thorax, pectus carinatum, short trunk, a genu valgum, and flat feet. A radiographic skeletal survey revealed a generalized osteoporosis, platyspondyly, thoracic kyphoscoliosis, small and square iliac wings, short femoral necks, dysplastic epiphyses, flared metaphyses and brachydactyly with various carpal, metacarpal, and finger malformations. These features are very close to a very rare entity: the spondyloepimetaphyseal dysplasia (SEMD) of Maroteaux or “pseudo‐Morquio” type II syndrome, whose specific radiological characteristics are found in this case. © 2003 Wiley‐Liss, Inc.
Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12
Authors: Lagier‐Tourenne Clotilde , Ginglinger E. , Alembik Y. , De Saint Martin A. , Peter M.O. , Dulucq P. , Jonveaux P. , Jeandidier E.
Published: January 2004

Partial trisomy 12q and monosomy 12p lead to multiple malformation syndromes. Instead of trisomy 12q that has been reported as a clinically identifiable syndrome, monosomy 12p is characterized by a wide phenotypic spectrum. We report two cousins suffering from severe mental retardation, seizures, and dysmorphic features related to a trisomy 12q24.3→qter and a monosomy 12p13→pter resulting from a familial pericentric inversion of chromosome 12. In an attempt to improve the clinical delineation of these two syndromes, we compared our two patients with previous reports of these aneusomies. This review emphasizes the high frequency of familial translocations, including a breakpoint at 12q24 involved in trisomy 12q whereas monosomy 12p occurs most frequently de novo. Despite the poor specificity of the signs, this comparison allowed us to determine the clinical features present in more than 20% of patients with trisomy 12q or monosomy 12p. We particularly emphasize some consistent leading features of monosomy 12p, including microcephaly, dental, cardio‐vascular, extremity, and sensorial abnormalities, initially not reported as recurrent in this syndrome. © 2003 Wiley‐Liss, Inc.
Submicroscopic deletion 9(q34.4) and duplication 19(p13.3): Identified by subtelomere specific FISH probes
Authors: Quigley Denise I. , Kaiser‐Rogers Kathleen , Aylsworth Arthur S. , Rao Kathleen W.
Published: January 2004

Submicroscopic rearrangements involving chromosome ends are responsible for the unexplained mental retardation and multiple congenital anomalies observed in a number of patients. We have studied a patient with mental retardation, significant microcephaly, alopecia universalis, and other anomalies who carries an unbalanced segregant from a cryptic reciprocal translocation involving chromosomes 9 and 19. FISH studies using subtelomere specific probes revealed a derivative chromosome 9 in which the 9q subtelomeric sequence has been replaced by 19p subtelomeric sequence. As a result, the patient has partial monosomy 9q and partial trisomy 19p. The patient inherited the derivative 9 from his father, who carries a cryptic apparently balanced reciprocal translocation involving the terminal regions of 9q and 19p. This case is exceptional in that reports of rearrangements involving distal chromosome 9q and 19p are rare. This study demonstrates the utility of subtelomere specific FISH probes for detecting cyptic subtelomeric rearrangements in patients with idiopathic mental retardation and normal appearing karyotypes. © 2003 Wiley‐Liss, Inc.
Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader–Willi syndrome: A new case and review of the literature
Authors: Nowaczyk Małgorzata J.M. , Zeesman Susan , Kam April , Taylor Sherryl A.M. , Carter Ronald F. , Whelan Donald T.
Published: January 2004

We report on a 10‐year‐old boy with a 47,XXY,del(15)(q11.2q13) karyotype and a Prader–Willi syndrome phenotype. His medical history and physical examination conformed to all of the major clinical criteria for Prader–Willi syndrome, but his height was taller than expected based on his hand and foot sizes. The deleted chromosome 15 was paternal in origin and molecular analysis showed maternal origin for the additional X chromosome. These findings suggest that the presence of these two disorders was coincidental in our patient. This supports the findings in the two other 47,XXY and Prader–Willi cases for which parent of origin studies have been published. Given the information from the literature and presented herein, we suggest that genetic counseling for cases of PWS and 47,XXY should address these two conditions separately. © 2003 Wiley‐Liss, Inc.
Epidemiologic approaches to identifying environmental causes of birth defects
Authors: Dolk Helen
Published: January 2004

Epidemiology can be used to elucidate environmental causes of birth defects. This paper discusses 1) different types of environmental causes; 2) the difficulties in comparing the prevalence of birth defects between populations, including the need for a population base and the implications of prenatal diagnosis; 3) the main study designs for observational epidemiological studies and the various sources of bias; 4) how statistical power can be increased by meta‐analysis or multicentric studies, and improved grouping of birth defects into etiologically more homogeneous subgroups; 5) the distinction between association and causation; 6) the interpretation of clusters in time and space in relation to local environmental causes; and 7) the potential of genetic epidemiology to help elucidate environmental causes. While further research continues into the environmental causes of birth defects, the epidemiologic evidence base for policy making and clinical practice is poor in many areas. The epidemiologic approach is important not only to elucidate environmental causes but also to assess the implementation of existing research into policy and practice for the prevention of birth defects. © 2004 Wiley‐Liss, Inc.
Integration of new genetic diseases into statewide newborn screening: New England experience
Authors: Comeau Anne Marie , Larson Cecilia , Eaton Roger B.
Published: January 2004

Using a data set of newborn screening specimens tested by the New England Newborn Screening Program (NENSP) between January 1999 and February 2003, we analyzed the number of infants with positive newborn screening results and determined how many positive screening results were due to a recent multiplex expansion of services in some of the states. We found that for the subset of the 4‐year cohort for which there was a 233% increase in the number of disorders screened (from 9 to 30 disorders), there was a 31% increase in the number of affected infants identified by the screen. We project that if all states in the program expanded their services and if the incidence of disorders is similar across states, there would be an observed 45% increase in the number of infants detected by the screen and a 43% increase in the number of infants for whom the screening algorithm would require some contact with the infants' health care provider. Furthermore, of those requiring contact, we project a 300% increase in the number of screened‐positive infants who would be referred to tertiary care centers for a diagnostic evaluation. Increased contact with the medical community from additions to newborn screening as demonstrated in this report emphasizes the need for an approach in which the newborn screening program assures coordinated communications between birth units, laboratory, primary health care providers, and specialists. © 2004 Wiley‐Liss, Inc.
Methodology of a multistate study of congenital hearing loss: Preliminary data from Utah newborn screening
Authors: Dent Karin M. , Kenneson Aileen , Palumbos Janice C. , Maxwell Stacy , Eichwald John , White Karl , Mao Rong , Bale James F. , Carey John C.
Published: January 2004

A multistate Centers for Disease Control and Prevention (CDC) study was designed to investigate the etiology of congenital hearing loss in infants ascertained through state‐mandated hearing screening or early hearing loss detection and intervention (EHDI) programs. At least 50% of permanent childhood‐onset hearing loss is due to genetic causes, and approximately 20% of all infants with congenital hearing loss have mutations in the GJB2 gene. Another 1% of childhood hearing loss is due to mitochondrial DNA (mtDNA) mutations. The specific aims of this study are to 1) classify the etiology of congenital hearing loss in infants by doing prospective genetic evaluations of all newborns with permanent hearing loss from defined geographic areas, 2) determine the frequency of mutations in GJB2 and two common mitochondrial mutations in these populations, and 3) establish a model infrastructure linking genetic services to statewide EHDI programs. As of April 2003, Utah is the only center evaluating patients. Study subjects identified through the Utah Department of Health EHDI program are contacted by letter and offered a comprehensive medical genetics evaluation with DNA testing for GJB2 and mitochondrial mutations A1555G and A7445G. To date, 25 probands and their immediate family members have been evaluated. We have identified 20 cases with nonsyndromic hearing loss (7 multiplex and 13 simplex), 4 with syndromic hearing loss, and 1 with presumed cytomegalovirus (CMV)‐induced hearing loss. Six of 19 (32%) nonsyndromic cases with sensorineural hearing loss have mutations of one or both alleles of the GJB2 gene, and 21% are homozygous or compound heterozygotes for the 35delG mutation. No A1555G or A7445G mtDNA mutations have been found. Data reported to date include only children born in Utah, but EHDI programs in Hawaii, Rhode Island, and designated areas of Georgia have begun enrolling children in what is now a multistate collaborative study. This is the first comprehensive investigation to determine the etiology of hearing loss from populations ascertained through EHDI programs. The results of this study will facilitate the incorporation of genetic services into EHDI programs. © 2004 Wiley‐Liss, Inc.
Vitamin supplements and the risk for congenital anomalies other than neural tube defects
Authors: Botto Lorenzo D. , Olney Richard S. , Erickson J. David
Published: January 2004

Randomized trials, supported by many observational studies, have shown that periconceptional use of folic acid, alone or in multivitamin supplements, is effective for the primary prevention of neural tube defects (NTDs). Whether this is true also for other congenital anomalies is a complex issue and the focus of this review. It is useful to consider the evidence not only for specific birth defects separately but, importantly, also for all birth defects combined. For the latter, the Hungarian randomized clinical trial indicated, for periconceptional multivitamin use, a reduction in the risk for all birth defects (odds ratio (OR) = 0.53, 95% confidence interval (CI) = 0.35–0.70), even after excluding NTDs (OR = 0.53, 95% CI = 0.38–0.75). The Atlanta population‐based case‐control study, the only large observational study to date on all major birth defects, also found a significant risk reduction for all birth defects (OR = 0.80, 95% CI = 0.69–0.93) even after excluding NTDs (OR = 0.84, 95% CI = 0.72–0.97). These and other studies also evaluated specific anomalies, including those of the heart, limb, and urinary tract, as well as orofacial clefts, omphalocele, and imperforate anus. For cardiovascular anomalies, two studies were negative, whereas three, including the randomized clinical trial, suggest a possible 25–50% overall risk reduction, more marked for some conotruncal and septal defects. For orofacial clefts, six of seven case‐control studies suggest an apparent reduced risk, which could vary by cleft type and perhaps, according to some investigators, by pill dosage. For limb deficiencies, three case‐control studies and the randomized trial estimated approximately a 50% reduced risk. For urinary tract defects, three case‐control studies and the randomized trial reported reduced risks, as did one study of nonsyndromic omphalocele. All these studies examined multivitamin supplement use. With respect to folic acid alone, a reduced rate of imperforate anus was observed among folic acid users in China. We discuss key gaps in knowledge, possible avenues for future research, and counseling issues for families concerned about occurrence or recurrence of these birth defects. © 2004 Wiley‐Liss, Inc.
Ethical issues concerning genetic testing and screening in public health
Authors: Hodge James G.
Published: January 2004

Genetic testing (predictive analysis that determines genetic alterations in individuals for clinical purposes) and screening (programs that identify persons within a subpopulation who may be at a higher risk for a genetic disease or condition) are increasingly utilized to promote and improve the public's health. The proliferate use of genetic testing and screening may improve public health outcomes, but it also implicates significant ethical, legal, and social concerns. Within the context of conflicting ethical values from the individual and public health perspectives, individual values such as informed consent and privacy and discrimination protections must be respected. Legal and ethical attempts to exceptionalize genetic tests and information (as compared to other health information) to protect privacy and prevent discrimination are well intended, but can also be unjust and impractical. Respect for individual ethical rights has limits. Principles of public health ethics justify voluntary genetic testing and screening and sharing of data for population‐based health purposes. Thus, individual rights should not always trump the use of genetic tests or screening programs (or information derived therefrom) for legitimate public health purposes. © 2004 Wiley‐Liss, Inc.
Public health monitoring of developmental disabilities with a focus on the autism spectrum disorders
Authors: Rice C. , Schendel D. , Cunniff C. , Doernberg N.
Published: January 2004

Developmental disabilities (DDs) are conditions characterized by physical, cognitive, psychological, sensory, adaptive, and/or communication impairments manifested during development. Approximately 17% of individuals in the United States 18 years and younger have a DD, and for most children the cause of their condition is unknown. Of particular interest are the autism spectrum disorders (ASDs), characterized by unusual social, communication, and behavioral development. Previously autism was thought to be a rare condition, but the number of children receiving services for an ASD has increased dramatically in the last decade. Concerns about increases in DDs, particularly ASDs, their causes, and the high costs of intervention have highlighted the need for systematic public health monitoring. Service provider data, such as annual reporting of special education services or of state DD programs, do not provide a complete estimate of the rates for DDs, including ASDs. Unlike genetic metabolic disorders or congenital hearing loss (HL) for which newborn screening programs can provide accurate prevalence rates, there are currently no genetic or biologic markers for the ASDs to enable consistent and early identification of affected children. Centers for Disease Control and Prevention's (CDC) Metropolitan Atlanta Developmental Disabilities Surveillance Program (MADDSP) is a model for population monitoring of ASDs/DDs that has been implemented in other states. This article discusses the role of ASD/DD tracking in public health, as well as the challenges of ASD/DD tracking, including case definition and identification, associated conditions, linkages, and data access. © 2004 Wiley‐Liss, Inc.
Utility and limitations of genetic disease databases in clinical genetics research: A neurofibromatosis 1 database example
Authors: Birch Patricia , Friedman J.M.
Published: January 2004

Databases that collect clinical information on patients with particular genetic diseases can be used to investigate the clinical history of a disorder, its genetics, and genotype‐phenotype correlations. A database can also serve as a valuable source of patients for studies of disease pathogenesis, variability, or treatment. We review the strengths and limitations of genetic disease databases in the context of our experience with the National Neurofibromatosis Foundation International Database (NNFFID). Genetic disease databases have been developed by individual investigators, scientific consortia, patient support organizations, and commercial enterprises. Databases vary from simple lists of affected individuals to comprehensive collections of detailed clinical and genetic information. Data may be obtained from people who volunteer to be included, systematic assessments of patients seen at participating medical centers, or population‐based registries. Access to information may be highly restricted or widely available. These variables all affect the possible uses and usefulness of the data for research. Technical aspects of data entry, organization, storage, and retrieval, as well as issues related to data quality, confidentiality, and security, help determine how well a system actually functions. We discuss examples of research that have been accomplished with genetic disease databases and make recommendations regarding the organization and operation of these resources. © 2004 Wiley‐Liss, Inc.
Contribution of Mendelian disorders to common chronic disease: Opportunities for recognition, intervention, and prevention
Authors: Scheuner Maren T. , Yoon Paula W. , Khoury Muin J.
Published: January 2004

Recognizing Mendelian disorders should improve health care for persons with strong familial risks for common chronic diseases. The Online Mendelian Inheritance in Man (OMIM) database was reviewed to identify Mendelian disorders featuring 17 common chronic diseases, including 9 cardiovascular conditions, diabetes, and 7 common cancers. Mendelian disorders were selected if any one of the 17 diseases was reported in more than two families manifesting in adulthood. Patterns of chronic diseases and modes of inheritance associated with these Mendelian disorders are described. The GeneTests/Reviews database and other websites were reviewed to determine availability of genetic testing and management and prevention recommendations for the selected disorders. Of 2,592 (OMIM) entries reviewed, 188 Mendelian disorders were selected. Most (67.7%) are autosomal dominant disorders. Almost half (45.8%) feature combinations of the chronic diseases under study. At least one gene is known for 68.8% of the selected disorders, and clinical genetic testing is available for 55% of disorders. Guidelines for management and prevention are available for 33.9% of these, ranging from recommendations for supportive care to guidelines for managing affected persons and screening relatives. Significant clinical heterogeneity exists for Mendelian disorders that might present as strong family histories of common chronic diseases. Recognition of the different combinations of diseases within a pedigree, including mode of inheritance and heritable disease risk factors, facilitates diagnosis of these Mendelian disorders. Genetic testing is available for most disorders, which can further clarify the genetic risk, and for some, recommendations for management and prevention are available. However, evidence‐based guidelines are needed. © 2004 Wiley‐Liss, Inc.
40 Jahre G‐Quartetts: von 5′‐GMP zur Molekularbiologie und Supramolekularen Chemie
Authors: Davis Jeffery T.
Published: January 2004

Die molekulare Selbstorganisation spielt bei vielen Prozessen in der Biologie und der Supramolekularen Chemie eine zentrale Rolle. Das G‐Quartett, ein durch Selbstorganisation von Guanosin an einem kationischen Templat gebildeter, wasserstoffverbrückter Makrocyclus, wurde erstmals 1962 als Basiseinheit der Aggregation von 5′‐Guanosinmonophosphat nachgewiesen. Inzwischen weiß man, dass viele Nucleoside, Oligonucleotide und synthetische Derivate eine Vielzahl funktionaler G‐Quartetts bilden. Das G‐Quartett spielt in vielen Bereichen eine Rolle, angefangen von der Strukturbiologie und der Medizinischen Chemie bis zur Supramolekularen Chemie und Nanotechnologie. Dieser Aufsatz fasst die Ergebnisse aus den unterschiedlichen Gebieten zusammen, wobei der Schwerpunkt auf der Struktur, der Funktion und der molekularen Erkennung des G‐Quartetts liegt.
Titelbild: 5‐Dehydro‐1,3‐quinodimethane: A Hydrocarbon with an Open‐Shell Doublet Ground State (Angew. Chem. 6/2004)
Authors: Slipchenko Lyudmila V. , Munsch Tamara E. , Wenthold Paul G. , Krylov Anna I.
Published: January 2004

Entgegen den bewährten Richtlinien für die Besetzung von Orbitalen, Hundsche Regel und Aufbauprinzip, sind die drei ungepaarten Elektronen im 5‐Dehydro‐m‐xylylen‐Triradikal antiferromagnetisch gekoppelt. Dieses erste Beispiel für ein organisches Molekül mit offenschaligem Dublett‐Grundzustand wurde von P. G. Wenthold, A. I. Krylov et al. untersucht. Das Titelbild zeigt die einfach besetzten Orbitale im Triradikal und veranschaulicht die Übereinstimmung der theoretischen und experimentellen Ergebnisse, die auf S. 760 ff. ausführlich diskutiert werden.
G‐Quartets 40 Years Later: From 5′‐GMP to Molecular Biology and Supramolecular Chemistry
Authors: Davis Jeffery T.
Published: January 2004

Molecular self‐assembly is central to many processes in both biology and supramolecular chemistry. The G‐quartet, a hydrogen‐bonded macrocycle formed by cation‐templated assembly of guanosine, was first identified in 1962 as the basis for the aggregation of 5′‐guanosine monophosphate. We now know that many nucleosides, oligonucleotides, and synthetic derivatives form a rich array of functional G‐quartets. The G‐quartet surfaces in areas ranging from structural biology and medicinal chemistry to supramolecular chemistry and nanotechnology. This Review integrates and summarizes knowledge gained from these different areas, with emphasis on G‐quartet structure, function, and molecular recognition.
Evaluating the relative effectiveness of three aversion therapies designed to reduce craving among cocaine abusers
Authors: Bordnick Patrick S. , Elkins Ralph L. , Orr T. Edward , Walters Paul , Thyer Bruce A.
Published: January 2004

Crack cocaine use and dependence has been steadily increasing since the mid‐1980s. Treatment approaches vary from simple psychotherapy to intensive medication regimens. One clear phenomenon that has been implicated in the continued use and abuse of crack cocaine is craving. Craving is believed to be a response that has been conditioned with previous drug using episodes, and is elicited by environmental cues. The current study investigated the use of three aversion therapies (chemical, covert sensitization, and faradic) designed to eliminate craving for cocaine. Seventy subjects were randomly assigned to one of three aversion treatments or a relaxation control condition. Results indicate that aversion therapy reduces crack cocaine craving. The use of aversion therapy as an adjunct to traditional treatment programs for reducing craving is discussed. Copyright © 2004 John Wiley & Sons, Ltd.
Computer‐assisted learning for adults with profound multiple disabilities
Authors: Holburn Steve , Nguyen Dong , Vietze Peter M.
Published: January 2004

Five adults with profound physical and intellectual disabilities were taught to respond to photographs of preferences embedded in Microsoft PowerPoint (Microsoft, 1997) presentations by operating microswitches that functioned as mouse clicks. Rate of responding was generally correlated with changes in types of presentation, although variability in rate was often high, and session durations were quite short. Two participants showed substantial increases in responding when fitted with switches that were easier to manipulate. This exploratory study demonstrates that people with extremely limited physical and cognitive abilities can be taught to operate switches that produce changes in visual arrays on a computer screen and sometimes differentially so. Implications for responding to photographic representations of preferences, rather than the tangible preferences themselves, are discussed. Copyright © 2004 John Wiley & Sons, Ltd.
The influence of different therapists on functional analysis outcomes
Authors: McAdam David B. , DiCesare Anthony , Murphy Sean , Marshall Bernard
Published: January 2004

Recently, researchers have demonstrated that certain antecedent variables can affect the results of a functional analysis. The purpose of the current study was to evaluate the effects of family members versus a direct‐care staff member on the occurrence of problem behaviors during three concurrently conducted functional analyses. The results of the functional analyses demonstrated that the participant's problem behaviors were maintained by positive reinforcement (i.e. access to tangible items) and negative reinforcement (i.e. escape from demands) when either his mother or stepfather was the therapist in the functional analysis; however, no problem behaviors were displayed when a direct‐care staff member was the therapist in the functional analysis. Copyright © 2004 John Wiley & Sons, Ltd.
Toilet training for a young boy with pervasive developmental disorder
Authors: Post A. Randi , Kirkpatrick Michael A.
Published: January 2004

We employed a variation of the Azrin–Foxx (1971) procedure with a 3.5‐year‐old boy diagnosed with Pervasive Developmental Disability (PDD). Unique features of our design included tailoring to the in‐home environment, training without systematically increasing fluid intake, introduction under circumstances that facilitated generalization and transfer without special procedures, the elimination of some specialized equipment, and use of social and activity reinforcers. Training was successful and was reported to have generalized to the inclusive school environment. Copyright © 2004 John Wiley & Sons, Ltd.
Determining the influence of tangible items on screaming and handmouthing following an inconclusive functional analysis
Authors: Carter Stacy L. , Devlin Sandy , Doggett R. Anthony , Harber Melissa M. , Barr Candice
Published: January 2004

A brief experimental analysis was used to compare the effects of the presence of tangible objects in an alone condition following an inconclusive functional analysis of screaming and handmouthing behavior of an 8‐year‐old boy. The alone condition with tangibles involved having toys available throughout the session with no interaction from the therapist and produced a higher percentage of intervals with screaming and handmouthing. The study demonstrates the importance of evaluating the effects of the presence of tangible items during a functional analysis. Copyright © 2004 John Wiley & Sons, Ltd.
Kissing sirolimus‐eluting stents for the treatment of left main coronary artery stenosis
Authors: Cox Nicholas , Rogers Campbell
Published: January 2004

We present a case of kissing drug‐eluting stent deployment in the left main coronary artery in a 43‐year‐old male with failed previous bypass grafting. We discuss the technique used for stent deployment and the rationale for using this technique in the drug‐eluting stent era. Catheter Cardiovasc Interv 2004;61:206–210. © 2004 Wiley‐Liss, Inc.
Long‐term follow‐up of brachytherapy for treatment of allograft in‐stent restenosis
Authors: Zoghbi Gilbert J. , Misra Vijay K. , Chapman Gregory D. , Hillegass William B. , Brott Brigitta C. , Aqel Raed A. , Bourge Robert C.
Published: January 2004

The experience of brachytherapy in the treatment of in‐stent restenosis of allograft arteries is limited. We present two cases of in‐stent restenosis treated with brachytherapy with favorable angiographic follow‐up at 10 months in one patient and at 17 months in the other. Catheter Cardiovasc Interv 2004;61:217–221. © 2004 Wiley‐Liss, Inc.
Ulnar artery catheterization with occlusion of corresponding radial artery
Authors: Lanspa Thomas J. , Reyes Antonio P. , Oldemeyer J. Bradley , Williams Mark A.
Published: January 2004

The transradial approach to coronary angiography has become a popular technique. Because of potential advantages, the transulnar approach has also recently been described. We report a successful case of transulnar catheterization with documented occlusion of the radial artery and normal inverse Allen test in a patient with limited vascular access. Catheter Cardiovasc Interv 2004;61:211–213. © 2004 Wiley‐Liss, Inc.
Reliable anticoagulation with enoxaparin in patients undergoing percutaneous coronary intervention: The pharmacokinetics of enoxaparin in PCI (PEPCI) study
Authors: Martin Jack L. , Fry Edward T.A. , Sanderink Ger‐Jan C.M. , Atherley Trevor H. , Guimart Colette M. , Chevalier Paul J. , Ozoux Marie‐Laure , Pensyl Catherine E. , Bigonzi Frederique
Published: January 2004

The objective of this study was to evaluate the pharmacokinetic response to intravenous (IV) enoxaparin given 8–12 hr after subcutaneous (SC) dosing in patients undergoing percutaneous coronary intervention (PCI). Fifty‐five patients received SC enoxaparin (1 mg/kg every 12 hr) followed by an IV bolus (0.3 mg/kg) 8–12 hr after the last SC dose, at the start of PCI or during catheterization. Anti‐Xa levels were within the target range in 98% of patients 2–8 hr after the last SC dose, in 96% of patients following the IV bolus, and in 91% of patients for a further 2 hr. Subcutaneous enoxaparin (1 mg/kg every 12 hr) provides sufficient anti‐Xa levels for PCI 2–8 hr after the last dose. An additional 0.3 mg/kg enoxaparin dose given IV 8–12 hr after the last SC dose reliably maintains anti‐Xa levels within the target for at least 2 additional hr. Catheter Cardiovasc Interv 2004;61:163–170. © 2004 Wiley‐Liss, Inc.
Safety of a high bolus dose of tirofiban in patients undergoing coronary stent placement
Authors: Danzi Gian B. , Capuano Cinzia , Sesana Marco , Baglini Roberto
Published: January 2004

To overcome the suboptimal platelet inhibition induced by tirofiban in the first hour after a percutaneous coronary intervention, a new regimen of 25 μg/kg bolus followed by an 18‐hr infusion of 0.15 μg/kg/min has been proposed. The aim of this study was to compare the effects of this high bolus dose of tirofiban with those of abciximab on bleeding risk and 30‐day clinical outcome in patients undergoing coronary stenting. We compared two cohorts of patients who underwent coronary stent placement between January 2000 and December 2002. In the first cohort, the only available IIb/IIIa receptor inhibitor was abciximab, which was given to 280 (34.9%) out of 802 stented patients; in the second cohort, tirofiban was administered to 274 (38.3%) out of 716 treated patients. The primary endpoints were the proportion of patients with major bleeding and the rate of site access complications; the 30‐day incidence of major adverse cardiac events (MACE) was also assessed. After the procedure, the patients were given ticlopidine for 4 weeks and aspirin indefinitely. Major bleeding episodes were observed in four patients receiving abciximab and in none receiving tirofiban (1.4% vs. 0%; P = 0.12); the rates of site access complications were similar (3.6% vs. 3.3%; P = 0.96). The 30‐day incidence of MACE was 7.1% in the abciximab group and 5.8% in the tirofiban group (P = 0.65). In patients undergoing coronary stenting, the high bolus dose of tirofiban is safe and not associated with an increased risk of major bleeding or site access complications in comparison with abciximab. Catheter Cardiovasc Interv 2004;61:179–184. © 2004 Wiley‐Liss, Inc.
Relationship between pattern of slow‐reflow and tissue level of perfusion after coronary stenting: A single‐patient report
Authors: Ramondo Angelo , Tarantini Giuseppe , Napodano Massimo , Bilato Claudio , Cacciavillani Luisa , Iliceto Sabino
Published: January 2004

Ths study reports different mechanisms (i.e., microvascular spasm and discrete microinfarction) that may underlie different pattern of slow‐reflow after elective coronary stenting on the basis of the different tissue level of perfusion achieved, assessed by blush grade and MRI. Catheter Cardiovasc Interv 2004;61:222–226. © 2004 Wiley‐Liss, Inc.
Endovascular stent implantation for severe pulmonary artery stenosis in aortoarteritis (Takayasu's arteritis)
Authors: Tyagi Sanjay , Mehta Vimal , Kashyap Ravi , Kaul Upkar A.
Published: January 2004

Symptomatic pulmonary artery stenosis is a relatively uncommon manifestation of aortoarteritis. We describe a patient of aortoarteritis with severe proximal right pulmonary artery stenosis who presented with dyspnea on exertion and central cyanosis. The pulmonary artery stenosis was successfully relieved by percutaneous transluminal balloon angioplasty and implantation of a balloon‐expandable stent. This resulted in immediate improvement in oxygen saturation, disappearance of cyanosis, relief of dyspnea, and marked improvement in right lung perfusion as demonstrated by pre‐ and postangioplasty technetium lung ventilation‐perfusion scans. The changes in the pulmonary arterial wall morphology were detected precisely by intravascular ultrasound imaging. Catheter Cardiovasc Interv 2004;61:281–285. © 2004 Wiley‐Liss, Inc.
A “mouse in a trap” method for cerebral protection during carotid stenting: Technical note
Authors: Nishi Shogo , Katsuki Takahisa , Mori Hisae , Ohwaki Hisayuki , Iwasaki Kohichi
Published: January 2004

Carotid artery angioplasty and stenting (CAS) is now used as an alternative to surgical endarterectomy. The introduction of cerebral protection systems during stenting has improved carotid artery stenosis treatment, with less periprocedural complications. A “mouse in a trap” method was conceived and used in three patients. This involved an emboli entrapment‐aspiration system using one proximal occluder in the common carotid artery and two distal occluders in the internal carotid artery or external carotid artery, followed by serial inflation‐deflation cycles during each carotid stenting procedure. Debris was retrieved before dilation in one patient, after deployment in one, and after dilation in two. Although only used in a few cases to date, the method may improve the practice of CAS in treating patients with carotid stenosis, resulting in less thromboembolic events. Catheter Cardiovasc Interv 2004;61:275–280. © 2004 Wiley‐Liss, Inc.
Stent implantation in right‐sided patent ductus arteriosus to relieve severe cyanosis in adult patient with pulmonary atresia and ventricular septal defect
Authors: Tyagi Sanjay , Dwivedi Girish , Gupta Mohit Dayal , Kaul Upkar A.
Published: January 2004

Patients with unrepaired pulmonary atresia and ventricular septal defect may develop stenosis of collaterals or shunts to the pulmonary arteries leading to hypoperfusion of lungs and systemic hypoxemia. A 25‐year‐old female with pulmonary atresia and ventricular septal defect presented with progressively increasing cyanosis and exercise intolerance. A restrictive right‐sided patent ductus arteriosus was identified as the main source of pulmonary blood flow. We report transcatheter implantation of a balloon‐expandable stent across the stenosed duct to augment the pulmonary blood flow as a palliative management option. Patient had immediate improvement in arterial oxygen saturation from 66% to 85% with excellent clinical improvement and stable oxygen saturation on 8 months of follow‐up. Catheter Cardiovasc Interv 2004;61:271–274. © 2004 Wiley‐Liss, Inc.
Native right ventricular outflow stent implantation in patients with unsalvageable extracardiac conduits
Authors: Veldtman Gruschen R. , Sugiyama Hisashi , Norgard Gunnar , Mikailian Haverj , Lee Kyong‐Jin , Benson Lee N.
Published: January 2004

We describe two patients with unsalvageable ventricular‐to‐pulmonary artery conduits in whom endovascular stents were implanted in the native right ventricular (RV) outflow providing double outlet ventricle and RV hypertension relief. Both patients are free from surgical reintervention at 7 years and 5 months, respectively. Catheter Cardiovasc Interv 2004;61:256–258. © 2004 Wiley‐Liss, Inc.
Transcatheter closure of double atrial septal defects with a single Amplatzer device
Authors: Szkutnik Malgorzata , Masura Jozef , Bialkowski Jacek , Gavora Pavol , Banaszak Pawel , Kusa Jacek , Zembala Marian
Published: January 2004

Transcatheter closure of single secundum atrial defects has become the standard of treatment. The purpose of our study was to analyze the results of using a single Amplatzer device for closure of double atrial septal defects. Such defects were diagnosed in 41 out of 363 patients with atrial septal defects (ASDs) closed by transcatheter method. In 39, a single Amplatzer device was used. The size of the larger defect ranged from 5 to 18 mm, the smaller defect from 2 to 7 mm, with the distance between the borders of the communications ranging from 2 to 12 mm. We performed sizing and closure of only the larger defect. The mean size of implanted devices was 16.5 ± 5.5 mm, equal to the stretched diameter of the main defect or 1–4 mm larger. The closure rate assessed by color Doppler flow examination was 61% after 24 hr, 78% after 1 month, 83% after 3 months, 86% after 1 year, and 95% after 2 years. If the distance between the two defects exceeded 7 mm, residual leaks were observed but tended to decrease and disappear with time. Selected patients with double atrial septal defects can be effectively treated with implantation of a single Amplatzer device. Catheter Cardiovasc Interv 2004;61:237–241. © 2004 Wiley‐Liss, Inc.
New strategies in the percutaneous management of coronary artery fistulae: A case report
Authors: Goldberg Steven L. , Makkar Raj , Duckwiler Gary
Published: January 2004

Coronary artery fistulae are rare anomalies often treated percutaneously. New techniques aiding in the percutaneous closure of a giant coronary artery, not previously described, are presented in a case report. These techniques include the use of intravascular ultrasound imaging and the use of electrolytically detachable platinum coils. Catheter Cardiovasc Interv 2004;61:227–232. © 2004 Wiley‐Liss, Inc.
Rheolytic thrombectomy with distal filter embolic protection as adjunctive therapies to high‐risk saphenous vein graft intervention
Authors: Ho Paul C. , Leung Cyril Y.
Published: January 2004

Percutaneous intervention of saphenous vein graft (SVG), especially those with heavy atherothrombotic load, presents high risk for distal embolization and no‐reflow. Using the distal filters alone may occasionally be disadvantageous because of the large debris burden and the inability to assess the underlying culprit lesions and vessel size accurately. We present a case of intervention of an occluded SVG using a combination of rheolytic thrombectomy and distal filter embolic protection as a pretreatment before stenting. This strategy has the potential to reduce further the risk of no‐reflow and to provide visualization for proper assessment of the underlying anatomy especially in clot‐laden vessels. Catheter Cardiovasc Interv 2004;61:202–205. © 2004 Wiley‐Liss, Inc.
Reactivity of the ductus arteriosus: Implications for transcatheter therapy
Authors: Lozier John S. , Cowley Collin G.
Published: January 2004

We report our experience in a 13‐month‐old boy undergoing transcatheter coil occlusion of a patent ductus arteriosus. Constriction of the ductus arteriosus with subsequent relaxation resulted in inadvertent coil embolization. This case report and review of the literature have implications for transcatheter treatment of persistent ductus arteriosus. Catheter Cardiovasc Interv 2004;61:268–270. © 2004 Wiley‐Liss, Inc.
Retrograde wire‐assisted percutaneous transcatheter closure of persistent ductus arteriosus with Amplatzer duct occluder in the elderly: A new application
Authors: Hsin Ho‐Tsung , Lin Lung‐Chun , Hwang Juey‐Jen , Ho Shinn‐Ge , Tseng Chuen‐Den , Chiang Fu‐Tein
Published: January 2004

Percutaneous transcatheter closure of persistent ductus arteriosus (PDA) has been well established in the pediatric field. For moderate‐ to large‐sized PDA, the newly developed Amplatzer duct occluder had offered a good solution, but it depends on stiff wire and delivery sheath. We reported two elderly patients of PDA with vascular anatomy too difficult to be antegradely approached and were closed by a retrograde technique by an assisting wire from the descending aorta. The wire served as a guide and tracked the delivery system to cross the ductus from the venous side smoothly. This retrograde wire‐assisted technique could be utilized to overcome the PDA of difficult vascular anatomy, which could not be easily fulfilled by conventional antegrade venous approach. Catheter Cardiovasc Interv 2004;61:264–267. © 2004 Wiley‐Liss, Inc.
GP IIb/IIIa inhibition with eptifibatide lowers levels of soluble CD40L and RANTES after percutaneous coronary intervention
Authors: Welt Frederick G.P. , Rogers Sarah D. , Zhang Xiaobin , Ehlers Raila , Chen Zhiping , Nannizzi‐Alaimo Lisa , Phillips David R. , Simon Daniel I.
Published: January 2004

Platelets are the most abundant blood source of CD40L, a proinflammatory and prothrombotic costimulatory molecule implicated in atherosclerosis. Agonist stimulation results in the secretion of a soluble form of CD40L (sCD40L) and GP IIb/IIIa receptor inhibition blocks secretion of sCD40L in vitro. However, the effect of GP IIb/IIIa inhibition on sCD40L levels in humans is unknown. Plasma sCD40L and inflammatory markers were measured (t = 0, 0.5, 2, and 24 hr post‐PCI) in a cohort of patients receiving abciximab (n = 15), eptifibatide (n = 15), or no GP IIb/IIIa inhibitor (n = 15). PCI in the absence of GP IIb/IIIa inhibitor was associated with a small but measurable rise in sCD40L and the platelet‐derived chemokine RANTES. In contrast, eptifibatide significantly lowered baseline sCD40L (P = 0.018) and RANTES (P = 0.006) levels. This effect was not observed with abciximab. GP IIb/IIIa inhibition with eptifibatide lowers levels of sCD40L and RANTES post‐stenting, possibly conferring anti‐inflammatory as well as antithrombotic effects. Catheter Cardiovasc Interv 2004;61:185–189. © 2004 Wiley‐Liss, Inc.
Stent implantation in the ductus arteriosus for pulmonary blood supply in congenital heart disease
Authors: Michel‐Behnke Ina , Akintuerk Hakan , Thul Josef , Bauer Juergen , Hagel Karl‐Juergen , Schranz Dietmar
Published: January 2004

Indications for catheter‐based interventions in patent ductus arteriosus (PDA)‐dependent pulmonary blood flow have yet to be defined. The aim of this study was to assess the acute and midterm outcome after stent implantation in the PDA. Between 1996 and 2002, ductal stenting was performed in 21 neonates and infants (14 females/7 males) to maintain pulmonary blood supply in cyanotic congenital heart disease (CHD). Balloon‐expandable stents were implanted in the PDA with a final diameter of 4–5 mm without procedural deaths. Stent patency was achieved for 8–1,130 days (median, 142). Reintervention was necessary in nine patients. Overall survival rate after 6 years was 86%. Two neonates died a few days after the procedure due to right heart failure not related to PDA stenting. Corrective surgery was possible in six patients. An additional aortopulmonary shunt was needed in three patients; Fontan type operations were performed in six. One patient died after bidirectional Glenn shunt, another five reached palliation by additional perforation of the atretic valve/balloon valvuloplasty, and two are awaiting surgery. We conclude that in many patients with cyanotic CHD, especially in those with ductal pulmonary perfusion and additional forward flow from the right ventricle, ductal stenting is an effective transcatheter approach. Morphology of the PDA predicts the risk of restenosis and necessity of reintervention. Growth of the pulmonary vascular bed allows corrective or palliative surgery, and some patients can be cured by the intervention alone. Catheter Cardiovasc Interv 2004;61:242–252. © 2004 Wiley‐Liss, Inc.
Mechanical thrombectomy using the AngioJect in a child with congenital heart disease
Authors: Vincent Robert N. , Dinkins Jeanne , Dobbs Melinda C.
Published: January 2004

Acute thrombosis of a vascular channel can be a serious and perhaps fatal complication. We describe a patient who developed complete thrombosis of the left pulmonary artery following catheter placement of a stent in this vessel shortly after open heart surgery. The thrombosis was successfully removed using the Possis AngioJet mechanical thrombectomy catheter. Catheter Cardiovasc Interv 2004;61:253–255. © 2004 Wiley‐Liss, Inc.