bluuebunny/crossref_metadata_2025_split huggingface dataset:
Bovine spongiform encephalopathy and generic promotion of beef: An analysis for “quality from Bavaria”
Authors: Herrmann Roland , Thompson Stanley R. , Krischik‐Bautz Stephanie 
Published: October 2002

AbstractIn this article we examine the impact of generic promotion on Bavarian beef demand during a period of a serious health concern in Europe: the bovine spongiform encephalopathy (BSE) crisis. We investigate the potential off‐setting effects of advertising and promotion (positive) and heightened food safety awareness (negative). Empirically, we evaluate the economic effectiveness of a program that promoted Bavarian beef as safe at the same time consumers were becoming increasingly concerned over the safety of the beef supply. Econometric estimates of both effects are provided and a model proposed to assess the corresponding economic welfare implications.The results show that the regional promotion of Bavarian beef increased demand by 4.6%. This increase was offset with a 6.9% decline in consumption due to information and public awareness of the BSE crisis. In addition, secular declines in consumption due to preference changes away from beef amounted to 15.2%. The welfare effects of the Bavarian government‐financed program were positive for both producers and consumers. Private and social benefit cost ratios suggest that the aggregate welfare gains due to promotion more than compensated for the cost of the program. [Econ‐Lit citations: Q13, M37] © 2002 Wiley Periodicals, Inc.
Maximum likelihood estimates of admixture in northeastern Mexico using 13 short tandem repeat loci
Authors: Cerda‐Flores Ricardo M. , Budowle Bruce , Jin Li , Barton Sara Ann , Deka Ranjan , Chakraborty Ranajit 
Published: October 2002

AbstractTetrameric short tandem repeat (STR) polymorphisms are widely used in population genetics, molecular evolution, gene mapping and linkage analysis, paternity tests, forensic analysis, and medical applications. This article provides allelic distributions of the STR loci D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, CSF1PO, TPOX, TH01, and D16S539 in 143 Mestizos from Northeastern Mexico, estimates of contributions of genes of European (Spanish), American Indian and African origin in the gene pool of this admixed Mestizo population (using 10 of these loci); and a comparison of the genetic admixture of this population with the previously reported two polymorphic molecular markers, D1S80 and HLA‐DQA1 (n = 103). Genotype distributions were in agreement with Hardy‐Weinberg expectations (HWE) for almost all 13 STR markers. Maximum likelihood estimates of admixture components yield a trihybrid model with Spanish, Amerindian, and African ancestry with the admixture proportions: 54.99% ± 3.44, 39.99% ± 2.57, and 5.02% ± 2.82, respectively. These estimates were not significantly different from those obtained using D1S80 and HLA‐DQA1 loci (59.99% ± 5.94, 36.99% ± 5.04, and 3.02% ± 2.76). In conclusion, Mestizos of Northeastern Mexico showed a similar ancestral contribution independent of the markers used for evolutionary purposes. Further validation of this database supports the use of the 13 STR loci along with D1S80 and HLA‐DQA1 as a battery of efficient DNA forensic markers in Northeastern Mestizo populations of Mexico. Am. J. Hum. Biol. 14:429–439, 2002. © 2002 Wiley‐Liss, Inc.
Arsenic and porphyrins
Authors: Apostoli P. , Sarnico M. , Bavazzano P. , Bartoli D. 
Published: October 2002

AbstractBackgroundTo evaluate the possible effect of inorganic arsenic (iAs) and of its species on the urinary excretion of porphyrin homologues.MethodsTotal porphyrins and their homologues (copro, penta, hexa, hepta, uroporphyrins) and arsenic species (trivalent and pentavalent As; monomethyl arsonic acid; dimethyl arsinic acid; arsenobetaine) were measured respectively by HPLC and HPLC‐ICP MS in urine from 86 art glass workers exposed to iAs and from 54 controls.ResultsA significant increase in the excretion of penta and uroporphyrins was demonstrated for workers exposed to As; As3 was the species best correlated with urinary porphyrin excretion.ConclusionsThe increase of urinary excretion for some porphyrin homologues appears to be consistent with the inhibition by As of URO‐decarboxylase in the heme biosynthesis pathway. The determination of urinary porphyrin homologues could be useful to assess, on a group basis, some early effects of arsenic and to demonstrate possible individual susceptibility to the element. Am. J. Ind. Med. 42:180–187, 2002. © 2002 Wiley‐Liss, Inc.
Genomic medicine: Who will practice it? A call to open arms
Authors: Guttmacher Alan E. , Jenkins Jean , Uhlmann Wendy R. 
Published: October 2002

AbstractThe Human Genome Project and other recent developments will broaden and increase the importance of genetics in health care. “Clinical genetics” will become “genomic medicine” and will no longer be almost the sole purview of genetic specialists—medical geneticists, genetic counselors, and genetic advanced practice nurses. The changing use of genetics in health care will require the acquisition of new knowledge, skills, and attitudes by many health care professionals who are not genetic specialists. Such health care professionals will not only be necessary to the widespread integration of genetics into clinical care, but they will make unique contributions to this integration that will add to the quality of genomic medicine. This new use of genetics in health care will also allow, even require, new ways of working for genetic specialists, who will continue to occupy unique and vital roles. Published 2001 Wiley‐Liss, Inc.
Ectrodactyly and Germany's eugenics law of 14 July 1933
Authors: Busch Roland , Kjaer Klaus 
Published: October 2002

AbstractThe family reported herein serves as a genetically and historically important vignette on the issues of nonpenetrance (versus germinal mosaicism) in nonsyndromic autosomal dominant ectrodactyly and the Eugenics Law of Germany of 14 July 1933, which was used to coerce the sterilization of the propositus despite infertility in his first marriage. In a sibship of seven children (with normal parents), three boys were affected. The propositus (adoptive grandfather of the author) was the patient of Paul Leopold Friedrich and Georg Perthes, who published their observations on the propositus. Except for an adopted daughter, the propositus was childless. His two affected brothers each had an affected child, and the father‐ to son transmission confirmed the hypothesis of autosomal dominant inheritance. The issue of nonpenetrance versus germinal mosaicism in ectrodactyly was debated by Auerbach [1956:Ann Hum Genet 20:266–269] and Vogel [1958:Ann Hum Genet 22:132–137], and remains unresolved. © 2002 Wiley‐Liss, Inc.
Combined genome and proteome approach to identify new susceptibility genes
Authors: Pociot Flemming , Karlsen Allan E. 
Published: October 2002

AbstractType 1 diabetes mellitus (T1DM) is a multifactorial disorder characterized by a specific destruction of the insulin‐producing beta cells in the islets of Langerhans. Cells from the immune system infiltrate the islet during the pathogenesis, releasing a mixture of cytokines demonstrated to be specifically toxic to the beta cells within the islets. The goal is to understand the molecular mechanisms responsible for this specific beta‐cell toxicity, which will allow the design of novel intervention strategies for T1DM. The proteome approach provides a detailed picture of the beta‐cell proteins changing expression pattern during cytokine‐mediated beta‐cell destruction. Combining the information from this proteome approach with genetic studies makes us believe that it is possible to reach this goal. © 2002 Wiley‐Liss, Inc.
Bilateral nephroblastoma in familial Hay‐Wells syndrome associated with familial reticulate pigmentation of the skin
Authors: Drut Ricardo , Pollono Daniel , Drut Rosa Mónica 
Published: October 2002

AbstractWe report on a girl with maxillary hypoplasia, prominent ears, dry sparse hair, palmar and plantar keratoderma, dystrophic nails, patchy pigmented skin lesions in hands and feet and bilateral Wilms tumor. She was born with bilateral ankyloblepharon. The mother and maternal grandmother presented similar ectodermal defects. Skin biopsies of the patient and her mother proved to contain cells overexpressing p63 by immunohistochemistry. Karyotypes of the patient and her mother, and FISH studies on lymphocytes and tumor cells of the girl demonstrated a mosaic 11p15.5 deletion. These findings suggest a relationship between familial ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome (Hay‐Wells syndrome) and familial reticulate pigmentation of the skin. In addition the development of Wilms tumor and 11p15.5 region involvement expand the genetic relationship between these conditions and the enlarging group of genetic entities related to nephroblastoma. © 2002 Wiley‐Liss, Inc.
T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families
Authors: Speer Marcy C. , Melvin Elizabeth C. , Viles Kristi D. , Bauer Kim A. , Rampersaud Evadnie , Drake Courtney , George Timothy M. , Enterline David S. , Mackey Joanne F. , Worley Gordon , Gilbert John R. , Nye Jeffery S. ,   and the NTD Collaborative Group
Published: October 2002

AbstractWe investigated the T locus as a candidate gene in a series of patients and families with lumbosacral myelomeningocele. Single‐strand conformation polymorphism (SSCP) analysis was used to identify sequence variation in all 8 exons and in intron 7 of this locus. We found evidence of substantial polymorphism within this locus, as previously reported [Papapetrou et al., 1999, J Med Genet 36:208–213], and moderately significant evidence of linkage disequilibrium with the CacI polymorphism of exon 8. However, when the locus was considered as a whole, with all single nucleotide polymorphisms (SNPs) integrated into a haplotype, there was no evidence for linkage disequilibrium. In addition, we did not identify any new sequence variants. Thus, we conclude that the T locus is not a major locus for human NTDs in this sample. © 2002 Wiley‐Liss, Inc.
Four cases with hypoplastic thumbs and encephaloceles
Authors: Huang Taosheng , Korson Mark S. , Krauss Celeste , Holmes Lewis B. 
Published: October 2002

AbstractWe report on four infants with hypoplastic thumbs and occipital encephaloceles. None had either a chromosome abnormality or a family history of any major malformation. The literature and database were searched intensively. No similar cases were reported previously, suggesting that the constellations might represent a new genetic syndrome. © 2002 Wiley‐Liss, Inc.
Candidate genes involved in cardiovascular risk factors by a family‐based association study on the island of Kosrae, Federated States of Micronesia
Authors: Han Zhihua , Heath Simon C. , Shmulewitz Dvora , Li Wentian , Auerbach Steve B. , Blundell Maude L. , Lehner Thomas , Ott Jurg , Stoffel Markus , Friedman Jeffrey M. , Breslow Jan L. 
Published: October 2002

AbstractAltered plasma levels of lipids and lipoproteins, obesity, hypertension, and diabetes are major risk factors for atherosclerotic cardiovascular disease. To identify genes that affect these traits and disorders, we looked for association between markers in candidate genes (apolipoprotein AII (apo AII), apolipoprotein AI‐CIII‐AIV gene cluster (apo AI‐CIII‐AIV), apolipoprotein E (apo E), cholesteryl ester transfer protein (CETP), cholesterol 7α‐hydroxylase (CYP7a), hepatic lipase (HL), and microsomal triglyceride transfer protein (MTP)) and known risk factors (triglycerides (Tg), total cholesterol (TC), apolipoprotein AI (apo AI), apolipoprotein AII (apo AII), apolipoprotein B (apo B), body mass index (BMI), blood pressure (BP), leptin, and fasting blood sugar (FBS) levels.) A total of 1,102 individuals from the Pacific island of Kosrae were genotyped for the following markers: Apo AII/MspI, Apo CIII/SstI, Apo AI/XmnI, Apo E/HhaI, CETP/TaqIB, CYP7a/BsaI, HL/DraI, and MTP/HhpI. After testing for population stratification, family‐based association analysis was carried out. Novel associations found were: 1) the apo AII/MspI with apo AI and BP levels, 2) the CYP7a/BsaI with apo AI and BMI levels. We also confirmed the following associations: 1) the apo AII/MspI with Tg level; 2) the apo CIII/SstI with Tg, TC, and apo B levels; 3) the Apo E/HhaI E2, E3, and E4 alleles with TC, apo AI, and apo B levels; and 4) the CETP/TaqIB with apo AI level. We further confirmed the connection between the apo AII gene and Tg level by a nonparametric linkage analysis. We therefore conclude that many of these candidate genes may play a significant role in susceptibility to heart disease. © 2002 Wiley‐Liss, Inc.
Genome‐wide scan for linkage to schizophrenia in a Spanish‐origin cohort from Costa Rica
Authors: DeLisi Lynn E. , Mesen Andrea , Rodriguez Carlos , Bertheau Arturo , LaPrade Beatrice , Llach Michelle , Riondet Silvina , Razi Kamran , Relja Margaret , Byerley William , Sherrington Robin 
Published: October 2002

AbstractGenetic isolates have been useful cohorts in which to search for genes underlying disorders of unknown pathology. One such cohort is thought to exist in the Central Valley of Costa Rica surrounding the city of San Jose. Previous investigators identified a rare dominant gene for hereditary deafness in this population, and a suggestive linkage of severe bipolar psychosis has been reported in another study. Ninety‐nine families with at least one pair of siblings affected with schizophrenia or a schizophrenia‐spectrum diagnosis had clinical evaluations and DNA collected for genotyping. The Marshfield Medical Research Foundation (NHLBI) Mammalian Genotyping Service performed all genotyping using 404 short‐tandem repeat polymorphic markers (STRPs) spaced on average 10 cM apart. Data were analyzed using the nonparametric program, GeneHunterPlus. The population structure was investigated using the STRUCT program. No region was found with genome‐wide significance for linkage. Using a phenotype of schizophrenia plus schizoaffective disorder, the highest maximum likelihood score (MLS) observed was 1.78 (P < 0.004) at 176.6 cM from pter on chromosome 5q, an area previously implicated by some other groups. In addition, five regions on chromosomes 1p, 2p, 2q, 14p, and 8p had MLSs above 1.0. All other regions produced scores below 1.0. Population genetic analysis reveals no evidence for population substructure, for admixture with other populations, such as Amerindians, or for inbreeding in the parental generation. The latter casts some doubt on this population being an isolate, although there was evidence of inbreeding among the offspring. © 2002 Wiley‐Liss, Inc.
Further evidence for a fourth gene causing X‐linked pure spastic paraplegia
Authors: Starling A. , Rocco P. , Cambi F. , Hobson G.M. , Passos Bueno M.R. , Zatz M. 
Published: October 2002

AbstractX‐linked hereditary spastic paraplegias (HSPs) present with two distinct phenotypes: pure and complicated. The pure form is characterized by slowly progressive weakness and spasticity of the lower limbs, whereas the complicated forms have additional features (optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, epilepsy, ataxia, ichthyosis, mental retardation, and deafness). Three X‐linked loci have been identified for the complicated HSP, while mutations in the proteolipid gene (PLP) (locus SPG2) were implicated in both pure and complicated forms. The absence of identified mutations in the PLP gene in families with both complicated and pure HSP, linked to the SPG2 locus, suggests the existence of another gene in close proximity. We had previously reported a large pedigree with an X‐linked form of pure HSP affecting 24 males [Zatz et al., 1976: J Med Genet 13:217–222]. Here, we present the results of linkage analysis in 19 members of this Brazilian family with markers in or near the PLP locus. Positive LOD scores were obtained with markers at the PLP locus (Zmax = 2.41 at Theta = 0); however, no mutation was found in the coding region of PLP, the intron‐exon boundaries, or part of the promoter region. The possibility of a duplication of the PLP gene was also excluded. These results suggest either that there is another X‐linked gene in close proximity to the PLP gene or that a novel mutation in the noncoding regions of the PLP gene may cause the disease in this family. © 2002 Wiley‐Liss, Inc.
No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1
Authors: Sander Thomas , Windemuth Christine , Schulz Herbert , Saar Kathrin , Gennaro Elena , Bianchi Amedeo , Zara Federico , Bulteau Christine , Kaminska Anna , Ville Dorothée , Cieuta Cécile , Prud'homme Jean‐François , Dulac Olivier , Bate Louise , Gardiner R. Mark , de Haan Gerrit‐Jan , Janssen Guus A.M.A.J. , Witte Jorine , Halley Dicky J.J. , Lindhout Dick , Wienker Thomas F. , Janz Dieter ,   European Consortium on the Genetics of Idiopathic Generalized Epilepsy
Published: October 2002

AbstractA recent genome‐wide scan showed strong evidence for a major locus for common syndromes of idiopathic generalized epilepsy (IGE) at the marker D18S474 on chromosome 18q21.1 (LOD score 4.5/5.2 multipoint/two‐point). The present replication study tested the presence of an IGE locus in the chromosomal region 18q21.1. Our linkage study included 130 multiplex families of probands with common IGE syndromes. Eleven microsatellite polymorphisms encompassing a candidate region of 30 cM on either side of the marker D18S474 were genotyped. The two‐point homogeneity LOD score for D18S474 showed strong evidence against linkage at the original linkage peak (Z = −18.86 at θm = f = 0.05), assuming a recessive mode of inheritance with 50% penetrance. Multipoint parametric heterogeneity LOD scores < −2 were obtained along the candidate region when proportions of linked families greater than 35% were assumed under recessive inheritance. Furthermore, non‐parametric multipoint linkage analyses showed no hint of linkage throughout the candidate region (P > 0.19). Accordingly, we failed to support evidence for a major IGE locus in the chromosomal region 18p11–18q23. If there is a susceptibility locus for IGE in this region then the size of the effect or the proportion of linked families is too small to detect linkage in the investigated family sample. © 2002 Wiley‐Liss, Inc.
Serpens endocrania symmetrica (SES): A new term and a possible clue for identifying intrathoracic disease in skeletal populations
Authors: Hershkovitz Israel , Greenwald Charles M. , Latimer Bruce , Jellema Lyman M. , Wish‐Baratz Susanne , Eshed Vered , Dutour Olivier , Rothschild Bruce M. 
Published: October 2002

AbstractThis paper describes a phenomenon in the endocranial plate, which we have termed “serpens endocrania symmetrica” (SES), and discusses its value as a diagnostic tool. The affected discolored bone area exhibits disruption of the endocranial surface, lending it a maze‐like appearance. Histological sections demonstrate that the process is limited to the most superficial portion of the endocranium, with no diploic and ectocranial involvement (sinus areas excepted). Adult skulls (n = 1,884) from the Hamann‐Todd collection (HTH), housed at the Cleveland Museum of Natural History, were utilized for the present study. SES was recognized in 32 of the 1,884 skulls studied (1.7%). The frequency of SES among individuals reported to have died from tuberculosis (TB) was 4.4%. The rate of SES in the non‐TB sample was only 0.53%. The locations were as follows: limited to sinus area, 28.1%; calvarium (excluding the sinuses), 46.9%; sinus + calvarium, 25.0%. SES was bilateral in 90.9% of cases. Twenty‐five of the 32 individuals (78.1%) with SES in the HTH collection had tuberculosis specifically listed as the cause of death. Six of the other 7 individuals had infections other than TB. In 29 of the 32 individuals with SES, infection involved structures within the thorax. As SES was also associated with another osteological phenomenon known to represent pulmonary disease, i.e., hypertrophic osteoarthropathy (HOA; 68.0% of SES individuals also had HOA), SES may be of diagnostic value in paleopathology for the recognition of intrathoracic disease, and perhaps tuberculosis. Am J Phys Anthropol 118:201–216, 2002. © 2002 Wiley‐Liss, Inc.
Brief communication: Haplogroup X confirmed in prehistoric North America
Authors: Malhi Ripan S. , Smith David Glenn 
Published: October 2002

AbstractHaplogroup X represents approximately 3% of all modern Native North American mitochondrial lineages. Using RFLP and hypervariable segment I (HVSI) sequence analyses, we identified a prehistoric individual radiocarbon dated to 1,340 ± 40 years BP that is a member of haplogroup X, found near the Columbia River in Vantage, Washington. The presence of haplogroup X in prehistoric North America, along with recent findings of haplogroup X in southern Siberians, confirms the hypothesis that haplogroup X is a founding lineage. Am J Phys Anthropol 119:84–86, 2002. © 2002 Wiley‐Liss, Inc.
Sickle cell disease: The neurological complications
Authors: Prengler Mara , Pavlakis Steven G. , Prohovnik Isak , Adams Robert J. 
Published: October 2002

AbstractThe genetic cause of sickle cell disease has been known for decades, yet the reasons for its clinical variability are not fully understood. The neurological complications result from one point mutation that causes vasculopathy of both large and small vessels. Anemia and the resultant cerebral hyperemia produce conditions of hemodynamic insufficiency. Sickled cells adhere to the endothelium, contributing to a cascade of activated inflammatory cells and clotting factors, which result in a nidus for thrombus formation. Because the cerebrovascular reserve becomes exhausted, the capacity for compensatory cerebral mechanisms is severely limited. There is evidence of small‐vessel sludging, and a relative deficiency of nitric oxide in these vessels further reduces compensatory vasodilatation. Both clinical strokes and silent infarcts occur, affecting motor and cognitive function. New data suggest that, in addition to sickle cell disease, other factors, both environmental (eg, hypoxia and inflammation) and genetic (eg, mutations resulting in thrombogenesis), may contribute to a patient's stroke risk. The stroke risk is polygenic, and sickle cell disease can be considered a model for all cerebrovascular disease. This complex disease underscores the potential intellectual and practical distance between the determination of molecular genetics and effective clinical application and therapeutics.