bluuebunny/crossref_metadata_2025_split huggingface dataset:
New mental retardation syndrome associated with ocular colobomas, cleft palate, and genital, skeletal, and craniofacial abnormalities
Authors: Khalifa M.M. , Cappon S. , Soboleski D. , Armstrong D. 
Published: August 2002

AbstractWe describe three Canadian brothers of Cree origin, with a previously undescribed pattern of malformation including distinctive craniofacial abnormalities with triangular facies, hypertelorism, low‐set and posteriorly rotated ears, ocular colobomas, ptosis, brachycephaly with widely separated sutures, cleft soft palate, undescended testes, bifid scrotum and hypospadius, wide webbed neck, webbed fingers, pectus excavatum and hypersegmented sternum, and severe psychomotor retardation. The presence of normal brain imaging and physical growth distinguishes them from other syndromes with overlapping abnormalities. This is either an X‐linked or autosomal recessive condition. © 2001 Wiley‐Liss, Inc.
Preserved neurobehavioral abilities in Lujan‐Fryns syndrome
Authors: Donders Jacobus , Toriello Helga , van Doornik Steven 
Published: August 2002

AbstractWe present a patient with all the physical characteristics of Lujan‐Fryns syndrome, including Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies. Despite the presence of impaired mental abilities in many areas, this young man showed intact concrete problem‐solving skills under structured, interactive conditions. In addition, he did not demonstrate any of the psychiatric features that have often been reported with this syndrome. We conclude that Lujan‐Fryns syndrome can be associated with partial preservation of neurobehavioral abilities. © 2001 Wiley‐Liss, Inc.
Familial paraganglioma and gastric stromal sarcoma: A new syndrome distinct from the Carney triad
Authors: Carney J. Aidan , Stratakis Constantine A. 
Published: August 2002

AbstractParagangliomas may be inherited in an autosomal dominant manner either alone (as in PGL1, PGL2, and PGL3 syndromes) or as a component of a multiple tumor syndrome (as in von Hippel‐Lindau disease and neurofibromatosis type 1). In this article, we describe 12 patients (7 male and 5 female) with an average age of 23 years from five unrelated families that manifested paraganglioma and gastric stromal sarcoma; the tumors were inherited in an apparent autosomal dominant manner, with incomplete penetrance. Seven patients had paraganglioma, four had paraganglioma and gastric stromal sarcoma, and one had gastric stromal sarcoma. The paraganglioma was multicentric and the gastric stromal sarcoma multifocal. Because of the rarity of gastric stromal sarcoma and its multifocality, the young age of the patients, and the unlikelihood of coincidental co‐occurrence of paragangliomas and gastric stromal sarcomas, we suggest that a new syndrome exists with these two main components, a condition that is familial and distinct from the Carney triad. Published 2002 Wiley‐Liss, Inc.
Angiotensin converting enzyme gene insertion/deletion polymorphism: Case‐control association studies in schizophrenia, major affective disorder, and tardive dyskinesia and a family‐based association study in schizophrenia
Authors: Segman Ronnen H. , Shapira Yami , Modai Ilan , Hamdan Adnan , Zislin Joseph , Heresco‐Levy Uriel , Kanyas Kyra , Hirschmann Shmuel , Karni Osnat , Finkel Boris , Schlafman Michael , Lerner Arturo , Shapira Baruch , Macciardi Fabio , Lerer Bernard 
Published: August 2002

AbstractAngiotensin converting enzyme (ACE) is a candidate gene for psychiatric disorders. We examined the frequency of a functional insertion/deletion (I/D) polymorphism in the 16th intron of the ACE gene (located on chromosome 17q23) in groups of patients with schizophrenia (n = 104 and 113), major depression (n = 55), and bipolar disorder (n = 87) compared to healthy control subjects (n = 87). There was no evidence for allelic or genotypic association of the polymorphism with any of the disorders or with tardive dyskinesia (TD) in patients with schizophrenia. In a sample of nuclear families (n = 61) made up of one or more patients with schizophrenia recruited with their parents, there was no evidence for biased transmission of ACE I/D alleles. Particularly in the case of schizophrenia, these findings do not support an association of the ACE I/D polymorphism with the phenotypes examined. © 2002 Wiley‐Liss, Inc.
Further clinical and sensorial delineation of Schinzel‐Giedion syndrome: Report of two cases
Authors: Minn David , Christmann Dominique , De Saint‐Martin Anne , Alembik Yves , Eliot Mylène , Mack Geneviève , Fischbach Michel , Flament Jacques , Veillon Francis , Dollfus Hélène 
Published: August 2002

AbstractSchinzel‐Giedion syndrome is a rare multiple congenital malformation syndrome defined by an evocative midfacial retraction, kidney and urinary malformations and multiple skeletal abnormalities associated to a recently described neurodegenerative process. Two children with SGS are reported with identical clinical findings: megacalycosis, progressive neurodegeneration with infantile spasms and hypsarrhymtic activity. Ocular investigations revealed alacrimia and corneal hypoesthesia. Computed tomography of the temporal bone showed a tuning‐fork malformation of the stapes for both children. These features may contribute to further delineation of SGS as additional clinical criteria. © 2002 Wiley‐Liss, Inc.
Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)
Authors: Bodamer Olaf A.F. , Church Heather J. , Cooper Alan , Wraith J. Ed , Scott C. Ronald , Scaglia Fernando 
Published: August 2002

AbstractA 20‐month‐old girl with developmental delay, dysmorphic features, horizontal supranuclear gaze palsy, retrocollis, and episodes of laryngospasm was diagnosed with variant neuronopathic Gaucher disease. The diagnosis was made enzymatically. Mutation analysis showed compound heterozygosity for D409H and a previously unreported mutation C16S. The presence of dysmorphic features, laryngospasm, absent cardiac findings, and the severe clinical phenotype distinguishes our case from other cases of variant neuronopathic Gaucher disease. We therefore propose to extend the spectrum of variant Gaucher disease. © 2002 Wiley‐Liss, Inc.
C7 complement deficiency in an Israeli Arab village
Authors: Behar Doron , Schlesinger Menachem , Halle David , Ben‐Ami Haim , Edoute Yehouda , Shahar Eduardo , Kasis Imad , Shihab Shihab , Elstein Deborah , Zimran Ari , Mandel Hanna 
Published: August 2002

AbstractDeficiencies of terminal complement components, particularly the latter ones, are often detected because of increased susceptibility to Neisserial infections. Herein we document the first report of C7 deficiency among a highly inbred Arab population living in the lower Galilee region of Israel. Both biochemical and molecular analysis were performed on samples from infected survivors and parents of children who succumbed to Neisserial infections in a 4‐year period. Only the index case who suffered recurrent infections and a sibling who had not suffered an infection during the outbreak were found to be C7‐deficient. The mutation was found to be the one previously described to be prevalent among Israeli Jews of Moroccan ancestry (mutation G1135C). The implications of this finding are discussed in the context of family pedigree, the protective effect of complement deficiency, and the clinical outcome. © 2002 Wiley‐Liss, Inc.
Pearson marrow‐pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA
Authors: Krauch Gabriele , Wilichowski Ekkehard , Schmidt Klaus G. , Mayatepek Ertan 
Published: August 2002

AbstractPearson marrow‐pancreas syndrome is a usually fatal disorder that involves the hematopoietic system, exocrine pancreas, liver, kidneys, and often presents clinically with failure to thrive. We report a 5‐year‐old patient who developed, in addition to the typical features of Pearson syndrome, worsening cardiac function, mainly affecting the left ventricle. The latter finding is particularly interesting because cardiac involvement has not yet been regarded as a major feature of Pearson syndrome. The diagnosis was proved by the finding of so far undescribed pleioplasmatic rearrangement of mitochondrial (mt)DNA (loss of 5,630 bp, 70% deleted and duplicated mtDNA) in blood cells. Our report demonstrates that patients with Pearson syndrome may also have impaired cardiac function. Thus, Pearson syndrome should be considered in the differential diagnosis of patients with left ventricular dysfunction of unknown origin and other clinical findings suggestive of a mitochondrial disease. © 2002 Wiley‐Liss, Inc.
Caught in the trio trap? Potential selection bias inherent to association studies usings parent‐offspring trios
Authors: Schulze Thomas G. , Müller Daniel J. , Krauss Harald , Gross Magdalena , Bauer Irina , Fangerau‐Lefèvre Heiner , Illės Franciska , Ohlraun Stephanie , Fimmers Rolf , Cichon Sven , Held Tilo , Propping Peter , Nöthen Markus M. , Maier Wolfgang , Rietschel Marcella 
Published: August 2002

AbstractDuring the last years, the validity of classic case control studies in psychiatric genetic research has been increasingly under question due to the risk of population stratification problems inherent to this type of association study. By consequence, the application of family‐based association studies using parent‐offspring trios has been strongly advocated. Recently, however, in a study comparing clinical characteristics between index patients from parent‐offspring trios and singleton patients with bipolar affective disorder, the question was raised whether a systematic neglect of case control association studies could lead to a selection bias of susceptibility genes. In a similar approach, we compared demographic and clinical characteristics of 122 singleton bipolar patients with those of 54 bipolar patients derived from parent‐offspring trios. The singleton patients did not only present with a higher age of onset, but also with a higher frequency of suicidal behavior and a higher familial loading for suicidality. These findings suggest that the genetic mechanism for disease might be different between trio‐based and classic case control samples, where patients are examined whose parents are not available for genetic studies. Thus, giving up case control designs for the sake of family‐based association studies could be at the risk of selecting against several genetically determined factors. © 2001 Wiley‐Liss, Inc.
Linkage analysis of schizophrenia to chromosome 15
Authors: Gejman Pablo V. , Sanders Alan R. , Badner Judith A. , Cao Qiuhe , Zhang Jing 
Published: August 2002

AbstractWe have mapped a sample of 68 families consisting of one or more affected sibling pairs with schizophrenia or schizoaffective disorder with 20 markers spanning all of chromosome 15 to investigate whether there is a locus on chromosome 15 that confers an increased susceptibility to schizophrenia using parametric and nonparametric linkage analyses. Allele sharing identical by descent and multipoint maximum likelihood score (MLS) statistics were employed. Results show excess allele sharing for multiple markers in 15q11.2–q25, a chromosomal region previously found linked to a decrease in the normal inhibition of the P50 auditory‐evoked response to the second of paired stimuli, a decrease associated with schizophrenia. Excess allele sharing was found for markers spanning about 48 cM in 15q11.2–q25 (D15S1002–D15S1023). The greatest single point allele sharing was found at D15S659 (62.6%). The multipoint MLS scores were greater than 1.0 in the 30–52 cM interval delimited by ACTC and D15S150, with a maximum value of 2.0 with GENEHUNTER PLUS near D15S1039. © 2001 Wiley‐Liss, Inc.
Genetic covariation of neuroticism with monoamine oxidase activity and smoking
Authors: Kirk Katherine M. , Whitfield John B. , Pang Dona , Heath Andrew C. , Martin Nicholas G. 
Published: August 2002

AbstractVariation in the personality trait of neuroticism is known to be affected by genetic influences, but despite a number of association studies, the genes involved have not yet been characterized. In a recent study of platelet monoamine oxidase in 1,551 twin subjects, we found a significant association between monoamine oxidase activity and scores on the Eysenck Personality Questionnaire neuroticism scale. Further analyses presented here indicate that both neuroticism and monoamine oxidase activity are associated with variation in smoking habits, and that adjusting for the effect of smoking strengthens the association between MAO and neuroticism. Analysis of the genetic and environmental sources of covariation between neuroticism, smoking, and monoamine oxidase activity show that approximately 8% of the genetic variance in neuroticism is due to the same additive genetic effects that contribute to variation in monoamine oxidase activity, suggesting that variation in neuroticism is associated in part with aspects of serotonin metabolism. © 2001 Wiley‐Liss, Inc.
Lack of association between cathepsin D genetic polymorphism and Alzheimer disease in a Spanish sample
Authors: Mateo Ignacio , Sánchez‐Guerra Marisa , Combarros Onofre , Llorca Javier , Infante Jon , González‐García Javier , del Molino Jesús Pérez , Berciano José 
Published: August 2002

AbstractCathepsin D (catD) is an intracellular aspartyl protease that exhibits beta and gamma secretase‐like activity to cleave amyloid precursor protein into beta amyloid peptide. The T‐allele of a biallelic (alleles C and T) polymorphism in the exon 2 of the catD gene has been found to be associated with increased risk of Alzheimer disease (AD) in two independent German populations. Other groups have been unable to replicate this association in Caucasian American and Northern Ireland populations. Moreover, a small and no significant tendency for the T‐allele to be protective for AD has been demonstrated in Caribbean Hispanics. A case control study utilizing a clinically well‐defined group of 311 sporadic AD patients and 346 control subjects was performed to test this association in an ethnically homogeneous population from Spain. We did not observe any association between the T‐allele of the catD gene and the disease. Furthermore, catD was not predictive of AD in an interactive fashion when considering apolipoprotein E, age, or gender. © 2001 Wiley‐Liss, Inc.
Effects of cognitive challenge on self‐directed behaviors by chimpanzees (Pan troglodytes)
Authors: Leavens David A. , Aureli Filippo , Hopkins William D. , Hyatt Charles W. 
Published: August 2002

AbstractIn primates, including humans, scratching and other self‐directed behaviors (SDBs) have recently been reported to be differentially displayed as a function of social interactions, anxiety‐related drugs, and response outcomes during learning tasks. Yet few studies have focused on the factors influencing SDBs in our closest living relatives, the chimpanzees (Pan troglodytes). Furthermore, no previous experimental study has examined handedness of SDBs as a function of changes in task difficulty. Using matching‐to‐sample tasks of varying difficulty, the present study examines the effect of manipulations of task difficulty on rates, handedness, and type of SDBs in an experimental study of eight chimpanzees. SDBs were categorized as rubs, gentle scratches, and rough scratches. SDBs increased during difficult discriminations, but only for subjects who started the experiment on an easy discrimination; subjects who started on a difficult discrimination exhibited no differential rates of SDBs as a function of task difficulty. There was a tendency to exhibit relatively more SDBs with the right hand in the more difficult task. Rates of SDBs decreased after auditory feedback signals, suggesting a link between SDBs and uncertainty. Rubs were directed more to the face (trigeminal), and gentle and rough scratches more to the body (spinothalamic), suggesting that face‐directed SDBs may index a different motivational basis than scratches. Taken together, these results extend previous research on SDBs to the domain of cognitive stress in nonsocial contexts, demonstrating that SDBs are sensitive to manipulations of task difficulty in chimpanzees. Am. J. Primatol. 55:1–14, 2001. © 2001 Wiley‐Liss, Inc.
Episodic memory in primates
Authors: Schwartz Bennett L. , Evans Siân 
Published: August 2002

AbstractEpisodic memory refers to a system of memory with the capacity to recollect specific events from an individual’s life. Some psychologists have suggested that episodic memory is a uniquely human phenomenon. We challenge that idea and present evidence that great apes and other primates may possess episodic‐like memory. We review criteria developed to assess episodic‐like memory in nonhumans, and how they apply to primates. In particular, we discuss the criteria of Clayton et al. [2001], who stated that episodic‐like memory is based on the retrieval of multiple and integrated components of an event. We then review eight studies examining memory in great apes and apply the Clayton et al. criteria to each of them. We summarize the evidence that is compatible with the existence of episodic‐like memory, although none of the data completely satisfy the Clayton et al. criteria. Morover, feelings of pastness and feelings of confidence, which mark episodic memory in humans, have not been empirically addressed in nonhuman primates. Future studies should be directed at these aspects of memory in primates. We speculate on the functional significance of episodic memory in nonhuman primates. Am. J. Primatol. 55:71–85, 2001. © 2001 Wiley‐Liss, Inc.
Maternal or fetal origin of rhesus monkey (Macaca mulatta) amniotic fluid leukocytes can be identified by polymerase chain reaction using the zinc finger Y gene
Authors: Macias A.E. , Wong S.W. , Sadowsky D.W. , Luetjens C.M. , Axthelm M.K. , Gravett M.G. , Haluska G.J. , Novy M.J. 
Published: August 2002

AbstractLeukocytes can be found in substantial numbers within the intrauterine tissues and amniotic fluid of women, and play a central role in the pathophysiology of infection‐related preterm labor by their production of proinflammatory mediators. It remains unclear whether these leukocytes represent a fetal immune response, a maternal response, or a combination of the two. The objective of this study was to develop a test in the rhesus monkey (Macaca mulatta) suitable for determining the percentage of male fetal cells present in a population of leukocytes recovered from blood or amniotic fluid. We found inadequate specificity for rhesus monkey cells using commercial human Y‐chromosome paint kits (fluorescence in situ hybridization (FISH)). Human‐specific primers for the repetitive Y chromosome DYZ‐1 locus employed in the polymerase chain reaction (PCR) produced an unacceptable percentage of false positives. However, we successfully developed a PCR‐based test using rhesus‐specific primers for the zinc finger Y (ZFY) locus. Densitometry of PCR products from known ratios of male and female adult peripheral leukocytes generated a linear standard curve which provided quantitative results and required only 400 cells per sample. The rhesus beta globin (RBG) gene served as an internal control. The PCR test correctly discriminated the sex of peripheral leukocytes in 20 adult males, 20 adult females, two male fetuses, and one female fetus. Serial samples of amniotic fluid from four chronically catheterized rhesus monkeys bearing male fetuses were used to confirm the utility of this assay for quantifying fetal cells in amniotic fluid. In conclusion, we have developed a PCR test which is suitable for distinguishing male from female cells in adult and fetal blood and in amniotic fluid, which lends itself to a variety of diagnostic and biologic applications in the rhesus monkey and potentially in other nonhuman primates. Am. J. Primatol. 55:159–170, 2001. © 2001 Wiley‐Liss, Inc.
Genetic diversity of Y‐specific STRs in chimpanzees (Pan troglodytes)
Authors: Gusmão L. , González‐Neira A. , Alves C. , Sánchez‐Diz P. , Dauber E.M. , Amorim A. , Carracedo A. 
Published: August 2002

AbstractUsing the primers described for humans, sequences for 11 Y‐specific microsatellites (DYS434, DYS435, DYS436, DYS437, DYS438, DYS439, GATA A10, A7.1, A7.2, C4, and H4 [Gusmão et al., in press]), previously described in 10 male chimpanzees (Pan troglodytes), were confirmed in nine additional male chimpanzees. Sequences for nine additional microsatellites (DYS19, DYS385I and II, DYS389I and II, DYS390, DYS391, DYS392, and DYS393) were determined in all 19 male chimpanzees; homology to human Y‐Short Tandem Repeat (STRs) was confirmed by sequencing. Good amplification results were not obtained for DYS19 and DYS385I/II. Two amplicons were obtained for DYS389I/II, but in contrast to humans, the larger fragment was not Y‐specific. Moreover, no polymorphism was observed for DYS434, DYS435, or GATA A10. Consequently, these eight STRs were eliminated from further analyses, and haplotype and allele frequencies were estimated for the remaining 12 STRs. A high haplotype diversity value was found (1.000 ± 0.017), demonstrating the usefulness and informative power of these Y‐STRs for future studies on chimpanzee population genetics.Am. J. Primatol. 57:21–29, 2002. © 2002 Wiley‐Liss, Inc.
Strains of JC virus in Amerind‐speakers of North America (Salish) and South America (Guaraní), Na‐Dene‐speakers of New Mexico (Navajo), and modern Japanese suggest links through an ancestral Asian population†
Authors: Fernandez‐Cobo Mariana , Agostini Hansjürgen T. , Britez Graciela , Ryschkewitsch Caroline F. , Stoner Gerald L. 
Published: August 2002

AbstractPreviously we showed that strains of human polyoma virus JC among the Navajo in New Mexico, speakers of an Athapaskan language in the Na‐Dene language phylum, and among the Salish people in Montana, speakers of a language of the Salishan group in the Amerind family, were mainly of a northeast Asian genotype found in Japan (type 2A). We now report partial VP1‐gene, regulatory region, and complete genome sequences of JC virus (JCV) from the Guaraní Indians of Argentina. The Tupí‐Guaraní language represents the Equatorial branch of the Amerind language family proposed by Greenberg ([1987] Language in the Americas, Stanford: Stanford University Press). The partial VP1 gene sequences of the Guaraní revealed several variants of strains found in northeast Asia (Japan), as did the Salish. In contrast, the strains in the Navajo largely conformed to the prototype type 2A sequence (MY). Phylogenetic reconstruction with both the neighbor‐joining and maximum parsimony methods utilized three complete Guaraní JCV genome sequences, three genomes from the Salish people, and 27 other complete JCV genomes, including three from the Navajo and three from Japan. Both trees showed that all type 2A JCV strains from the North and South Americans are closely related phylogenetically to strains in present‐day Japan. However, variant sites in the coding regions, the T‐antigen intron, and the regulatory region link the type 2A strains in Amerind groups (Guaraní and Salish), but differentiate them from those in a Na‐Dene‐speaking (Navajo) population. The data suggest separation from a population ancestral to modern Japanese, followed by a second division within the ancestral group that led to Amerind‐ and Na‐Dene‐speaking groups. The data cannot, however, localize the latter split to the Asian mainland (two migrations) or to North America (one migration). Am J Phys Anthropol 118:154–168, 2002. Published 2002 Wiley‐Liss, Inc.