bluuebunny/crossref_metadata_2025_split huggingface dataset:
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

AbstractAn 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

AbstractPartial 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

AbstractSubmicroscopic 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

AbstractWe 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

AbstractEpidemiology 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

AbstractUsing 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

AbstractA 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

AbstractRandomized 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

AbstractGenetic 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

AbstractDevelopmental 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

AbstractDatabases 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

AbstractRecognizing 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

AbstractDie 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.
G‐Quartets 40 Years Later: From 5′‐GMP to Molecular Biology and Supramolecular Chemistry
Authors: Davis Jeffery T. 
Published: January 2004

AbstractMolecular 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

AbstractCrack 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

AbstractFive 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.