bluuebunny/crossref_metadata_2025_split huggingface dataset:
Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy
Authors: Langer Sabine , Geigl Jochen B. , Wagenstaller Janine , Lederer Gaby , Hempel Maja , Daumer‐Haas Cornelia , Leifheit Hans‐Jürgen , Speicher Michael R. 
Published: March 2006

AbstractIn recent years, the spectrum of available methods for the characterization of chromosomal aberrations has significantly increased. Micro‐array technologies now allow the rapid fine mapping of small genomic imbalances. Here we used various technologies to characterize a de novo translocation t(2;15) in a girl with dysmorphic features, severe developmental delay and frequent seizures. Multiplex‐FISH (M‐FISH) excluded the involvement of other chromosomes than chromosomes 2 and 15. We used an oligonucleotide array containing more than 10.000 SNPs, that is, the GeneChip Mapping 10K 2.0 SNP Affymetrix array, and readily fine‐mapped a deletion in chromosomal region 2q24.1 → 2q31.1. The extent of this deletion was verified with multicolor BAC‐clone hybridizations. The deletion has a size of about 13 Mb and is within a gene rich region containing about 76 genes. Interestingly, several of these genes are ion channel genes or genes involved in neuron differentiation, so that the frequently occurring seizures are probably due to loss or haploinsufficiency of one or more of these genes. © 2006 Wiley‐Liss, Inc.
Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: Blind men and an elephant or separate syndromes?
Authors: Hunter Alasdair G.W. 
Published: March 2006

AbstractThe discovery of relevant causative genes has subdued the lumping versus splitting debate with respect to a growing number of syndromes. However, it remains paramount to define unknown genesis syndromes as precisely and appropriately as possible in order to provide accurate prognosis and to facilitate future research. The presentation of a 14‐month‐old girl, of normal intelligence, who had a colobomatous right eye with cyst, minor intracranial MRI variants, and an area of sparse scalp hair containing a 1 by 1.5 cm, soft, domed, and indented skin lesion suggested a diagnosis of mild oculocerebrocutaneous syndrome (OCCS). An initial exploration of the literature exposed the extreme variability in cases that have been reported as OCCS, and emphasized its possible relationship to encephalocraniocutaneous lipomatosis (ECCL), thus challenging the initial diagnosis. Cases reported, or discussed by others, as possible OCCS (40) and ECCL (44) were reviewed as completely as possible in an effort to determine whether diagnostic criteria could be developed for these syndromes, and to see whether or not evidence favored their continued separation as two syndromes. The approach used was to summarize the data for all cases, to select major and minor diagnostic criteria on the basis of the relative specificity and/or frequency of a sign, to then apply the criteria in a standard fashion and to review the outcome to see if the classification of cases made clinical sense, and to make appropriate adjustments. The criteria were not chosen so as to separate the syndromes and in some instances the same criteria could apply to either syndrome. An approach is outlined for handling reports of patients that purport to be variants or to expand the spectrum of a syndrome, and in the case of OCCS and ECCL this resulted in most such examples being excluded. Application of diagnostic criteria suggests that OCCS and ECCL are distinct, and that some case reports, including some purporting to expand the spectrum of OCCS, should be excluded, at least until such time as the etiology of these conditions is known and those cases can be tested. These diagnostic criteria were developed on the basis of literature reports that varied in their quantity and quality of detail. Furthermore, in many cases reliance had to be placed on copies of original studies with resultant degradation of photographic information. Modern ocular imaging, and histopathology of eye and skin malformations, will often clarify the specific nature of a malformation and, therefore, define exact diagnostic criteria and leave fewer uncertain cases. In the absence of anomalies in those systems, or if histopathology or appropriate imaging is unavailable, the diagnosis in some cases will continue to remain uncertain; this is not an argument for lumping the syndromes. © 2006 Wiley‐Liss, Inc.
Fetus with two identical reciprocal translocations: Description of a rare complication of consanguinity
Authors: Martinet Danielle , Vial Yvan , Thonney Francine , Beckmann Jacques S. , Meagher‐Villemure Kathleen , Unger Sheila 
Published: March 2006

AbstractWe report on a 24‐week fetus with multiple organ anomalies secondary to biparental inheritance of an apparently balanced t(17;20) reciprocal translocation. The pregnancy was terminated following the discovery by ultrasound of an abnormal heart and micrognathia. At autopsy, the following anomalies were found: Pierre–Robin sequence, hypoplasia of the right ventricle with muscular hypertrophy, and endocardial fibroelastosis, hypoplastic lungs, dysplastic left kidney, bilateral pelvicalyceal dilatation, central nervous system periventricular heterotopias and right sided club foot. Given the endocardial fibroelastosis and cleft palate, Eastman–Bixler syndrome (Facio‐cardio‐renal) is a possible diagnosis. The parents were first cousins and each had an identical t(17;20)(q21.1;p11.21) translocation. The fetal karyotype was 46,XX,t(17;20)(q21.1;p11.21)mat,t(17;20)(q21.1;p11.21)pat. While there are a few reports of consanguineous families where both the mother and father had the same reciprocal translocation and offspring with unbalanced karyotypes, we were unable to find any reports of a fetus/child with double identical reciprocal translocations. We propose that although the fetus had an apparently balanced karyotype, inheriting only the translocated chromosomes led to the unmasking of a recessive syndrome. It seems most likely that a gene (or genes) was disrupted by the breaks but the parents might also be heterozygous carriers of a recessive gene mutation since the fetus must be homozygous by descent for many loci on both chromosomes 17 and 20 (as well as on other chromosomal segments). It was not possible to totally exclude segmental uniparental disomy as a cause of the anomalies as no recombinations were detected for chromosome 17. However, there is no evidence to suggest that chromosome 17 is imprinted and UPD 20 was excluded thus making an imprinting error unlikely. © 2006 Wiley‐Liss, Inc.
Thirty‐two year follow‐up of the first patient reported with the Floating‐Harbor syndrome
Authors: Feingold Murray 
Published: March 2006

AbstractA 32‐year follow‐up of the first patient reported with the Floating‐Harbor syndrome is discussed. He has been in good overall health. His facial appearance, a hallmark of this syndrome, had remained fairly characteristic except for some changes secondary to age. While he does have mild to moderate mental retardation, he has been employed for the past 15 years. Because no laboratory tests are presently available to diagnose the Floating‐Harbor syndrome, the author recommends that the typical facial features present in the first two patients reported with this syndrome be present before the diagnosis can be made. © 2006 Wiley‐Liss, Inc.
Linkage and association of schizophrenia with genetic variations in the locus of neuregulin 1 in Korean population
Authors: Kim Jong Won , Lee Yu‐Sang , Cho Eun‐Young , Jang Yong Lee , Park Dong Yeon , Choi Kyeong‐Sook , Jeun Hyun Ok , Cho Seung‐Hee , Jang Sue‐Yon , Hong Kyung Sue 
Published: March 2006

AbstractChromosome 8p21‐12 has been reported to be a susceptibility locus for schizophrenia based on genome‐wide linkage scans. After neuregulin 1 (NRG1) was identified as a positional candidate gene for schizophrenia in this locus, several independent association studies have reported controversial results. To determine whether genetic variations in this locus are associated with schizophrenia in the Korean population, we investigated multiplex families and unrelated patients using linkage and association analyses. Seven microsatellite markers in 8p21‐12 were genotyped for 40 families with schizophrenia, and a non‐parametric linkage analysis was applied. The association study was performed with 242 unrelated schizophrenia patients and the same number of normal controls for three single nucleotide polymorphisms (SNPs), two microsatellite markers and their haplotypes. A significant linkage signal was observed on D8S1769, which is located 352 kb upstream of the 5′ end of the first exon of NRG1 for two (“narrow” and “narrow with auditory hallucination (AH)”) of the three adopted phenotype classes. In the association study, the G allele of SNP8NRG241930 was significantly in excess in the subgroup of patients with AHs. We also found haplotypes which were associated with schizophrenia with a protective effect. This study provides additional suggestive evidence for both the linkage and association of genetic variations on 8p12, a locus of NRG1, with schizophrenia. NRG1 might either play a role in the predisposition to schizophrenia or be in linkage disequilibrium (LD) with a causal locus of this illness. © 2006 Wiley‐Liss, Inc.
Intergeneration CAG expansion and contraction in a Chinese HD family
Authors: Tang Yanping , Wang Ying , Yang Ping , Liu Yuan , Wang Bo , Podolsky Robert , McIndoe Richard , Wang Cong‐Yi 
Published: March 2006

AbstractThe prevalence of juvenile‐onset Huntington's disease (HD) is about ten times lower than adult HD. Here we report a Chinese HD family showing both intergeneration CAG expansion and contraction. The expansion resulted from a paternal transmission which leads to juvenile‐onset HD for a 17‐year‐old Chinese boy (III‐5). More interestingly, a contraction was noticed in a maternal transmission (III‐3), which changed the CAG repeat from an expanded, disease‐causing allele (48 repeats) to a normal or intermediate allele (34 repeats). Of note, the contraction resulted in a deletion of 14 CAG repeats, which is much larger than previously reported contractions. Our results are consistent with previous observations in Western Caucasians that juvenile‐onset HD is more likely inherited through the male germline. © 2006 Wiley‐Liss, Inc.
Evaluating the comparability of gene expression in blood and brain
Authors: Sullivan Patrick F. , Fan Cheng , Perou Charles M. 
Published: March 2006

AbstractThe availability of an accessible tissue whose gene expression profile is similar to more inaccessible CNS tissues has the potential to advance research in neuropsychiatric disorders. We conducted secondary data analysis of transcriptional profiling of 79 human tissues for 33,698 genes using the Affymetrix U133A microarray augmented with a custom microarray (Affymetrix GNF1H), which were produced by the Genomics Institute of the Novartis Research Foundation (http://symatlas.gnf.org). Our analyses suggested that: (a) on a transcriptome level, whole blood shares significant gene expression similarities with multiple CNS tissues; (b) the median non‐parametric correlation between transcripts present in both whole blood and CNS was around 0.5; (c) this correlation of 0.5 was intermediate relative to all tissues in the Novartis data set—less than for the maximum achievable value of 0.85, less than a set of immune tissues (0.64), comparable to a heterogeneous set of somatic tissues (0.57) but greater than muscle (0.48) and peripheral nervous system tissues (0.36); (d) about half of a set of candidate genes relevant to schizophrenia were expressed in both whole blood and prefrontal cortex; and (e) the expression levels of many classes of biologically relevant processes were not significantly different between whole blood and prefrontal cortex. These analyses suggest that gene expression in whole blood is neither perfectly correlated and useful nor perfectly uncorrelated and useless with gene expression in multiple brain tissues. This suggests that the cautious and thoughtful use of peripheral gene expression may be a useful surrogate for gene expression in the CNS when it has been determined that the relevant gene is expressed in both. © 2006 Wiley‐Liss, Inc.
Association of the DAT1 polymorphism with attention deficit hyperactivity disorder (ADHD): A family‐based approach
Authors: Lim Myung‐Ho , Kim Hyun Woo , Paik Ki‐Chung , Cho Soo Churl , Yoon Do Young , Lee Heon‐Jeong 
Published: March 2006

AbstractThe dopamine transporter gene (DAT1) is of particular interest in the genetic study of attention deficit hyperactivity disorder (ADHD), because psychostimulants interact directly with the dopamine transporter protein. Association between ADHD and the 10‐repeat allele of a 40 base pair (bp) variable number of tandem repeats (VNTR) polymorphism of DAT1 was first reported in 1995 [Cook et al. (1995); Am J Hum Genet 56:993–998]. Subsequently, several investigators have also confirmed this association, although others reported conflicting results. We analyzed the DAT1 polymorphism in a sample of 33 Korean probands with a Diagnostic and Statistical Manual of Mental Disorders version IV (DSM‐IV) diagnosis of ADHD and found evidence of increased transmission of the 10‐repeat allele using transmission disequilibrium test (TDT) (P = 0.001; OR = 7.88, CI = 2.20–28.29). These data support the role of DAT1 in ADHD susceptibility among Asian populations. © 2006 Wiley‐Liss, Inc.
Smoking cessation, weight gain, and DRD4 −521 genotype
Authors: Munafò Marcus R. , Murphy Michael F.G. , Johnstone Elaine C. 
Published: March 2006

AbstractWe investigated change in body mass index following long‐term smoking cessation in a representative cohort of treatment‐seeking heavy smokers in the United Kingdom, to determine the extent of long‐term weight gain in successful quitters versus continuing smokers. We further investigated whether DRD4 genotype moderated any weight gain in either group. Smoking cessation was associated with an increase in BMI, and persisted up to 8 years after smoking cessation. Ex‐smokers at 8‐year follow‐up weighed over 2.5 kg/m3 more on average than they did at baseline, while participants who were smokers at both baseline and 8‐year follow‐up did not demonstrate any change in BMI. We did not observe an interaction between smoking status and DRD4 genotype. However, independently of the weight gain among those who stopped smoking during the course of the study, DRD4 genotype was significantly associated with BMI, with possession of the −521 C‐allele associated with increased BMI. The magnitude of increase in BMI following smoking cessation, and the persistence of this change at 8‐year follow‐up, suggests that health benefits associated with smoking cessation may to some extent be negated by the detrimental effects on health of associated weight gain. Smoking cessation programmes should therefore consider incorporating follow‐up support to promote weight loss among those who successfully stop smoking. © 2006 Wiley‐Liss, Inc.
MAOA‐uVNTR polymorphism in a Brazilian sample: Further support for the association with impulsive behaviors and alcohol dependence
Authors: Contini Verônica , Marques Francine Z.C. , Garcia Carlos E.D. , Hutz Mara H. , Bau Claiton H.D. 
Published: March 2006

AbstractThe enzyme monoamine oxidase A (MAO A) plays an important role in the metabolism of neurotransmitters. The MAOA gene presents several polymorphisms, including a 30‐bp VNTR in the promoter region (MAOA‐uVNTR). Alleles with 3.5 and 4 repeats are 2–10 times more efficient than the 3‐repeat allele. Several studies have shown an association between the 3‐repeat allele and a cluster of externalizing behaviors including alcoholism, antisocial personality, and impulsivity. The objective of the present study is to replicate in a different culture the associations between the MAOA‐uVNTR with alcoholism and other phenotypes. The sample comprises 125 Brazilian alcoholics of European descent and 235 controls. The results suggest that the 3‐repeat allele is associated to: (1) alcohol dependence (P < 0.05); (2) an earlier onset of alcoholism (P < 0.01); (3) comorbid drug abuse among alcoholics (P < 0.05); and (4) a higher number of antisocial symptoms (P < 0.02). Our results confirmed previous reports showing an association of the low activity 3‐repeat allele of MAOA‐uVNTR polymorphism with substance dependence and impulsive/antisocial behaviors. These findings in a different culture further support the influence of the MAOA‐uVNTR in psychiatric disorders. © 2006 Wiley‐Liss, Inc.
Association study of the adrenergic receptors and childhood‐onset mood disorders in Hungarian families
Authors: Burcescu I. , Wigg K. , Gomez L. , King N. , Vetró Á. , Kiss E. , Kapornai K. , Gádoros J. , Kennedy J.L. , Kovacs M. , Barr C.L. ,   The International Consortium for Childhood‐Onset Mood Disorders
Published: March 2006

AbstractThe adrenergic system has been implicated in the etiology of depression based on a number of lines of evidence, particularly, the mechanism of some classes of antidepressants which increase the synaptic levels of norepinephrine. Further, several genome scans for mood disorders, both unipolar and bipolar, have indicated linkage to the chromosomal regions of 5q23–q33.3, 8p12–p11.2, 4p16, and 10q24–q26, the location of the adrenergic receptors α1B (ADRA1B), β3 (ADRB3), α2C (ADRA2C), α2A (ADRA2A), and β1 (ADRB1). In this manuscript, we report on the relationship of the adrenergic receptors and depression using a family based association approach and 189 families (223 affected children) with childhood‐onset mood disorder (COMD) collected in Hungary. We found no significant evidence for an association with any of the 24 markers, in total, tested across these genes using single marker analysis or haplotypes of markers across these genes. The results in the present sample indicate that these nine genes are unlikely to be major susceptibility genes contributing to COMD. © 2006 Wiley‐Liss, Inc.
Array‐based genomic delineation of a familial duplication 11q14.1–q22.1 associated with recurrent depression
Authors: Kolomietz Elena , Ben‐Omran Tawfeg , Chitayat David , Mah Mimi , Murphy Jillian , Nie Gloria , Teshima Ikuko 
Published: March 2006

AbstractDetection of abnormal karyotypes with associated clinical manifestations is an important tool for the identification of genes that confer susceptibility to genetic disorders. We present a family with a duplication 11q14.1–q22.1 resulting from an unbalanced familial insertion, associated with a mild dysmorphic phenotype and mood disorders, mainly major depression. This relatively large duplication of a segment from chromosome 11 is associated with a surprisingly little physical phenotypic effect in this family. The finding of mood disorders in adult members of the family who carry the insertion supports the view that the duplication may be important for the identification of contributing gene(s) to mood disorders. Major depression is considered to be a complex trait with multiple genetic alterations interacting with environmental factors. Array‐based comparative genome hybridization (array CGH) analysis with a 1 Mb genomic array, defined the duplication region that extended over 16 Mb from 11q14.1 to 11q22.1. Brain‐expressed genes that map within this 16 Mb region, are considered worthy of further investigation as gene(s) contributing to the etiology of major depression. © 2006 Wiley‐Liss, Inc.
Validation of population‐based ADHD subtypes and identification of three clinically impaired subtypes
Authors: Volk Heather E. , Henderson Cynthia , Neuman Rosalind J. , Todd Richard D. 
Published: March 2006

AbstractStatistically based classification methods have successfully refined ADHD into homogenous and heritable subtypes. External validity and impairment of these subtypes was examined using the Child Behavior Checklist (CBCL). We compared mean CBCL syndrome and competency t‐scores across ADHD subtypes defined by latent class analysis in a sample of 1,346 individual twins from Missouri. The potential for comorbidity with conduct disorder (CD), oppositional defiant disorder (ODD), or major depression (MD) to increase impairment in specific ADHD subtypes was also examined. CBCL profiles confirm differences in severity, with more severe classes having increased syndrome scale and decreased competency scale CBCL scores. Clinically significant impairment was found for severe inattentive and combined subtypes and the mild combined subtype. Overall, the presence of comorbid CD, ODD, or MD did not result in increased ADHD subtype impairment. CBCL scores distinguish impairment in ADHD subtypes created through LCA. Comorbidity with CD, ODD, or MD does not significantly increase impairment among ADHD subtypes. The mild combined ADHD subtype represents a clinically significant but under‐studied form of ADHD. © 2006 Wiley‐Liss, Inc.
Intrinsic viscosity–molecular weight relationship and hydrodynamic volume for pullulan
Authors: Kasaai Mohammad R. 
Published: March 2006

AbstractA numerical method for determination of Mark–Houwink–Sakurada (MHS) equation constants, a and K, was tested with success for two series of pullulan standard samples having narrow and broad molecular weight distributions (MWD) and taken into account their polydispersity. Different solvents, which were used to determine the intrinsic viscosities and the viscometric constants, a and K (published in the literature for pullulan), were compared. The various parameters affecting the constants are discussed. The procedure to determine the correct value of the hydrodynamic volume for pullulan was also described. This study resulted in the following MHS equations for narrow and broad MWD series of pullulan samples with Mw in the range of 5–1000 kDa:

equation image

equation image

where qMHS is the polydispersity correction factor and [η] is the intrinsic viscosity in dL g−1. The plot of log K versus exponent a was linear and inversely related. This curve was used to estimate the constant K for pullulan with a known exponent a. Among various reported solvents, the diluted aqueous salt solutions have more advantages than other solvents. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 4325–4332, 2006
Diffusion coefficient of DMSO in polyacrylonitrile fiber formation
Authors: Ying Liang , Hou Chen , Fei Wang 
Published: March 2006

AbstractA H2O/dimethyl sulfoxide(DMSO) mixture was used as the coagulation bath for the wet‐spun process of acrylonitrile/ammonium itaconate copolymers fibers. Diffusion coefficient of DMSO in the protofibers prepared by acrylonitrile/ammonium itaconate copolymers was determined. It has been found that diffusion coefficient of DMSO outflow of the protofibers prepared by acrylonitrile/ammonium itaconate copolymers synthesized by the solution polymerization is highest compared with those of acrylonitrile/ammonium itaconate copolymers synthesized by H2O/DMSO mixture suspension polymerization and the aqueous suspension polymerization. With an increase of copolymer concentration in the dope, diffusion coefficient of DMSO decreases continuously. Diffusion coefficient of DMSO increases along with the bath temperature, but the changes of diffusion coefficient values are less prominent as temperature goes beyond 60°C. When DMSO concentration in the coagulation bath was 55 wt %, the value of the diffusion coefficient of DMSO was minimal. Diffusion coefficient of H2O increases with the jet stretch minus ratio increasing. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 4447–4451, 2006