bluuebunny/crossref_metadata_2025_split huggingface dataset:
Thromboembolism preceding cancer: A correlation study
Authors: Saba Hussain I. , Khalil Farrah K. , Morelli Genevieve A. , Foulis Philip R. 
Published: January 2003

AbstractThromboembolic (TE) events preceding cancer have been observed. Some studies failed to find this correlation. We retrospectively examined the cancer incidence following thromboembolic events in patients at our medical center. Medical records of 183 patients with established thromboembolic events documented in their records were selected and reviewed. Time interval between primary, secondary, and recurrent TE events preceding cancer diagnosis was analyzed. Two hundred age‐ and sex‐matched controls seen during the same period and without any evidence of TE were randomly selected and charts reviewed for malignancy. Cancer occurred after TE in 48 of 183 patients (26.2%). In controls, cancer was diagnosed in 23 (11.5%). This was statistically significant with an odds ratio of 2.736 (1.586, 4.720). In the 64 primary TE patients, the cancer incidence was 37.5%. The 63 patients with recurrent TE had an incidence of 35.4%, and 56 secondary TE patients had an incidence of 27.1%. Time between initial TE and cancer diagnosis was <6 months in 27 (56.3%) patients, between 6 months and 1 year in 12 (25.0%), 1–5 years in 5 (10.4%), and >5 years in 4 (8.3%). Fourteen (31.1%) TE patients presented with metastatic cancer. This study indicates that thromboembolic events are important predictors of cancer. Cancer in this population occurs within a year in the majority of patients. Cancer screening in patients without identifiable risk factors for thrombosis could be helpful for early detection, diagnosis, and management of cancer. Am. J. Hematol. 72:109–114, 2003. © 2003 Wiley‐Liss, Inc.
Ethnicity and prognosis in acute myeloid leukemia
Authors: Alcalai Ronny , Ben‐Yehuda Dina , Ronen Ilana , Paltiel Ora 
Published: January 2003

AbstractEthnicity has been described as a prognostic factor in breast cancer and in childhood acute lymphocytic leukemia but not in adult acute myeloid leukemia (AML). We reviewed the records of 225 consecutive AML patients who were diagnosed and treated between 1983 and 1995. Data were collected concerning demographic factors, presenting clinical features, and treatment protocols. We categorized ethnicity as follows: European Jews, non‐European Jews, and Arabs. We assessed the role of ethnicity controlling for other known prognostic factors on treatment outcome and survival in this population. Older age, high leukocyte count at diagnosis, and high‐risk chromosomal aberrations were significantly associated with overall survival in univariate analysis. In multivariate analysis high leukocyte count and high‐risk chromosomal aberrations exerted an independent negative effect on survival. European origin was associated with longer event‐free survival in univariate analysis (P= 0.024) and longer overall (P< 0.01) and event‐free (P< 0.01) survival but not with a higher remission rate in multivariate analysis. For AML patients who achieved remission after induction chemotherapy and survived its complications, European origin is an independent favorable prognostic factor for long‐term remission and survival in Israel. These findings may reflect better socioeconomic status, social support, increased compliance with treatment protocols, or better psychological coping mechanisms with malignancy. Am. J. Hematol. 72:127–134, 2003. © 2003 Wiley‐Liss, Inc.
Access to stem cell transplantation: Do women fare as well as men?
Authors: Mehta Paulette , Pollock Brad H. , Nugent Melodee , Horowitz Mary , Wingard John R. 
Published: January 2003

AbstractWomen have less access to certain types of expensive treatments including renal transplantation, cardiac catheterization and diagnostic studies for lung cancer. Whether women have less access to stem cell transplantation (SCT) is not known. We evaluated allogeneic SCT data from the International Bone Marrow Transplant Registry (IBMTR) and compared them with disease incidence data from the Surveillance and Epidemiologic End Results (SEER) database. We estimated the ratio of males to females among transplanted patients with acute lymphoblastic (ALL), acute myelogenous (AML) and chronic myelogenous (CML) leukemia, diseases for which SCT is often done and compared them to male/female ratios of disease incidence. The association between gender and SCT was estimated as odds ratios (OR) with 95% confidence intervals (CI). There was no association between gender (male vs female) and the rates of SCT for individuals with AML (OR = 0.95, 95% CI = 0.89−1.02), or CML (OR = 1.0; CI = 0.90−1.1). Among patients with newly diagnosed ALL, more males underwent SCT than females (OR = 1.30, CI = 1.18−1.44). Because children with newly diagnosed ALL usually have a favorable prognosis, SCT is not generally a frontline therapy. Therefore, when we compared SCT rates to a population of children with relapsed ALL, the gender differences disappeared (OR = 1.09, CI = 0.94−1.25). We conclude that for the diagnoses where SCT is commonly used, there is no significant bias towards use in males compared to females. While boys with ALL appear to receive SCT at a higher rate, this difference is likely attributable to biological rather than social reasons. Am. J. Hematol. 72:99–102, 2003. © 2003 Wiley‐Liss, Inc.
CTLA‐4 exon 1 polymorphism in patients with autoimmune blood disorders
Authors: Pavkovic Marica , Georgievski Borce , Cevreska Lidija , Spiroski Mirko , Efremov Dimitar G. 
Published: January 2003

AbstractCTLA‐4 is a CD28 homologue that plays an important role in negative regulation of T‐cell responses. Its transient expression on the surface of activated T cells antagonizes the activating signals and terminates the T‐cell response. An A to G polymorphism at position 49 of the CTLA‐4 first exon has recently been associated with several autoimmune disorders. In the present study we have examined the prevalence of the A and G alleles of the CTLA‐4 gene in 50 patients with autoimmune hemolytic anemia (AIHA), of which 20 had idiopathic AIHA and 30 had AIHA and chronic lymphocytic leukemia (CLL), and in 60 patients with immune thrombocytopenic purpura (ITP). Control subjects were 100 healthy individuals and 100 CLL patients without clinical evidence for an autoimmune disease. The G allele was present at a significantly higher frequency among the patients with AIHA (P = 0.003), whereas no difference was observed between patients with ITP and controls. The G allele frequency was highest among CLL patients who had developed AIHA. The obtained data indicate that the G allele of CTLA‐4 predisposes to the development of AIHA, particularly among patients with CLL. Am. J. Hematol. 72:147–149, 2003. © 2003 Wiley‐Liss, Inc.
Acquired activated protein C resistance, high tissue factor expression, and hyper‐homocysteinemia in systemic lupus erythematosus
Authors: Oh D. , Kim S.H. , Kang M.S. , Kim N.K. , Chang N.S. , Na B.W. , Chung S.Y. , Park S. , Cho C.S. 
Published: January 2003

AbstractActivated protein C resistance (APCR), high tissue factor (TF) expression, and hyper‐homocysteinemia are associated with thromboembolic diseases. Thromboembolism is a frequent complication of systemic lupus erythematosus (SLE). In this study, we evaluated the prevalence of APCR, high TF, and homocysteine with correlation of the thrombotic tendency in SLE. Ninety‐four SLE patients and 28 normal controls were included. APC ratio and TF antigen were measured using commercial kits. Plasma homocysteine level was measured using HPLC. The prevalence of APCR, high TF antigen level, and hyper‐homocysteinemia in our SLE patients were 21.3%, 66.0%, and 23.4%, respectively. The median plasma level of TF antigen in SLE patients was 145.23 pg/mL (range, 31.00–778.50 pg/mL), which was significantly higher than the control value of 39.83 pg/mL (range, 1.55–168.50 pg/mL). The median APC ratio in SLE patients was 2.76 (range, 1.48–13.47), which was significantly lower than the control value of 3.59 (range, 0.26–5.66). The plasma level of homocysteine was not significantly different from that of control. A significant association was observed between the presence of APCR (OR = 8.59, P < 0.0001) but not with the presence of high plasma TF antigen level (OR = 1.24, P = 0.67) and thrombotic complications in SLE patients. In conclusion, APCR and high plasma TF levels are common in SLE, but a significant association was observed only between the presence of APCR and thrombosis in SLE patients. Am. J. Hematol. 72:103–108, 2003. © 2003 Wiley‐Liss, Inc.
Thromboxane synthesis is increased by upregulation of cytosolic phospholipase A2 and cyclooxygenase‐2 in peripheral polymorphonuclear leukocytes during bacterial infection in childhood
Authors: Zaitsu Masafumi , Hamasaki Yuhei , Nishimura Shinji , Matsuo Muneaki , Fujita Ichiro , Ishii Eiichi 
Published: January 2003

AbstractProstaglandins (PGs) and thromboxane (TX) are important mediators of inflammation. Recent studies revealed that PG and TX synthesis is controlled by the regulation of PG‐ and TX‐synthesizing enzymes. In this study, we examined the TX synthesis and the expression of TX‐synthesizing enzymes in activated peripheral polymorphonuclear leukocytes (PMNs) obtained from children with bacterial infection. Blood samples were obtained from controls and patients with bacterial infection. A23187‐stimulated production of TXB2, a stable metabolite of TXA2 in PMNs, was measured by a specific radioimmunoassay. The mRNA expression of cytosolic phospholipase A2 (cPLA2), cyclooxygenase (COX)‐1, COX‐2, and TXA2 synthase was determined by RT‐PCR. The synthesis of TXB2 in PMNs was significantly increased in the patients [925.0 (550.0–1100.0) pg/106 cells], compared with the controls [550.0 (450.0–775.0) pg/106 cells]. The mRNA expression for cPLA2 and COX‐2 in PMNs was also enhanced in the patients. The results indicate that TX production in PMNs is significantly increased through possible transcriptional mechanisms of cPLA2 and COX‐2 during bacterial infection in children. The upregulation of TXA2 synthesis may contribute to the process of acute inflammatory reaction caused by bacterial infection. Am. J. Hematol. 72:115–120, 2003. © 2003 Wiley‐Liss, Inc.
An investigation of the 5‐HT2C receptor gene as a migraine candidate gene
Authors: Johnson Matthew P. , Lea Rod A. , Curtain Robert P. , MacMillan John C. , Griffiths Lyn R. 
Published: January 2003

AbstractMigraine is a common complex disorder, currently classified into two main subtypes, migraine with aura (MA) and migraine without aura (MO). The strong preponderance of females to males suggests an X‐linked genetic component. Recent studies have identified an X chromosomal susceptibility region (Xq24–q28) in two typical migraine pedigrees. This region harbours a potential candidate gene for the disorder, the serotonin receptor 2C (5‐HT2C) gene. This study involved a linkage and association approach to investigate two single nucleotide variants in the 5‐HT2C gene. In addition, exonic coding regions of the 5‐HT2C gene were also sequenced for mutations in X‐linked migraine pedigrees. Results of this study did not detect any linkage or association, and no disease causing mutations were identified. Hence, results for this study do not support a significant role of the 5‐HT2C gene in migraine predisposition. © 2003 Wiley‐Liss, Inc.
Association study between dopamine D3 receptor gene variant and personality traits
Authors: Jönsson Erik G. , Burgert Edgar , Crocq Marc‐Antoine , Gustavsson J Petter , Forslund Kaj , Mattila‐Evenden Marja , Rylander Gunnar , Flyckt Lena K. , Bjerkenstedt Lars , Wiesel Frits‐Axel , Åsberg Marie , Bergman Hans 
Published: January 2003

AbstractDopamine receptor gene variation has been hypothesized to influence personality traits characterized by novelty seeking and related traits. We analyzed a dopamine D3 receptor gene (DRD3) variant in a Swedish population (n = 373) investigated with one or more of several personality questionnaires. No significant relationships were found between DRD3 genotypes and any of the 15 Karolinska Scales of Personality (KSP) and five Health‐relevant Personality 5 factor inventory (HP5i) scales. The DRD3 variant was associated with some scales related to novelty seeking: the Swedish universities Scales of Personality (SSP) Adventure Seeking and the revised NEO personality inventory (NEO‐PI‐R) Fantasy (O1) and Order (C2) scales. There were also associations with the Temperament and Character Inventory (TCI) Cooperativeness and Compassion (C4) scales. After correction for multiple testing, however, no significant difference remained. We conclude that the investigated DRD3 polymorphism does not have a major impact on personality in the investigated population. © 2003 Wiley‐Liss, Inc.
Dopamine Beta‐Hydroxylase (DBH) gene and schizophrenia phenotypic variability: A genetic association study
Authors: Yamamoto Kenji , Cubells Joseph F. , Gelernter Joel , Benkelfat Chawki , Lalonde Pierre , Bloom David , Lal Samarthji , Labelle Alain , Turecki Gustavo , Rouleau Guy A. , Joober Ridha 
Published: January 2003

AbstractRecently, two polymorphisms (DBH5′‐Ins/del and DBH 444 g/a) of the Dopamine Beta Hydroxylase (DBH) gene were isolated, and one haplotype (Del‐a) was found to be associated with low DBH activity and cocaine‐induced paranoia. The purpose of this study is to test for association between these two polymorphisms and schizophrenia or its phenotypic variability with respect to neuroleptic therapeutic response and symptom profile. Allelic and haplotype distributions of these two polymorphisms were compared between two groups of schizophrenic patients (excellent neuroleptic‐responders; R, n = 42 and non‐responders; NR, n = 64), and one group of healthy volunteers (n = 120). The “Del” and “a” alleles were in positive linkage disequilibrium. No allelic or genotype differences in the distribution of these two polymorphisms were observed between patients and controls. However, The Del‐a haplotype was significantly more common in NR patients, and the mean total BPRS score was significantly higher in the group of patients with the Del‐a compared to those without the Del‐a haplotype. These results suggest that the DBH gene is not a causative factor in schizophrenia but that it may be a modulator of psychotic symptoms, severity of the disorder and therapeutic response to neuroleptic drugs. © 2003 Wiley‐Liss, Inc.
Association of a MAOA gene variant with generalized anxiety disorder, but not with panic disorder or major depression
Authors: Tadic A. , Rujescu D. , Szegedi A. , Giegling I. , Singer P. , Möller H.‐J. , Dahmen N. 
Published: January 2003

AbstractThis study was conducted to detect a possible association of a T941G single nucleotide polymorphism (SNP) in the monoamine oxidase A (MAOA) gene with generalized anxiety disorder (GAD), panic disorder (PD), or major depression (MD). Fifty GAD patients (34 females and 16 males), 38 PD patients (21 females and 17 males), and 108 MD patients (80 females and 28 males) were included. The comparison group consisted of 276 (132 females and 144 males) unrelated healthy individuals. The 941T allele was over‐represented in patients suffering from GAD (χ2 = 6.757; df = 1; P < 0.01, not corrected for multiple testing) when compared to healthy volunteers. No association was observed in MD or PD. This is the first study specifically analyzing the MAOA G941T polymorphism in GAD and thus needs to be replicated in an independent sample. However, the results are in line with previous data suggesting an association between the MAOA locus and regulation of complex human behavior. © 2003 Wiley‐Liss, Inc.
Role of elastin polymorphisms in panic disorder
Authors: Philibert Robert A. , Nelson Jeffrey J. , Bedell Bruce , Goedken Rhinda , Sandhu Harinder K. , Noyes Russell , Crowe Raymond R. 
Published: January 2003

AbstractPanic disorder (PD) is a complex neuropsychiatric disorder that has been associated with an increased frequency of mitral valve prolapse. Elastin is a prominent component of mitral valves and, in a genome screen of 23 pedigrees with PD, we found evidence of linkage to the region of chromosome 7 that contains the elastin gene (ELN). Therefore, we examined the minimal essential promoter and coding regions of ELN in 23 independent probands from the families in our linkage studies using single strand conformational polymorphism analysis. We found three polymorphisms including one that coded for a non‐conservative amino acid change. However, none of these polymorphisms were associated with panic disorder in a case‐control analysis or linked to it in multiplex pedigrees. In our pedigrees, exonic polymorphisms in ELN do not play a major role in the genetic vulnerability to PD. © 2003 Wiley‐Liss, Inc.
Association of an exonic LDHA polymorphism with altered respiratory response in probands at high risk for panic disorder
Authors: Philibert Robert A. , Nelson Jeffrey J. , Sandhu Harinder K. , Crowe Raymond R. , Coryell William H. 
Published: January 2003

AbstractPanic disorder (PD) is a clinical syndrome characterized by recurrent discrete episodes of fear accompanied by a variety of physiological and psychological symptoms, often with prominent respiratory components. A series of clinical observations has led some investigators to hypothesize that subtle alterations in ventilatory regulation are integral to at least a subtype of PD. In order to identify genetic factors that might predispose individuals to these alterations in ventilatory response, we conducted single stranded conformation polymorphism analysis across the exons of the lactate dehydrogenase A and B genes (LDHA and LDHB) using DNA prepared from 86 subjects previously characterized by respiratory response to a CO2 challenge with a variable genetic loading for PD. Remarkably, a single conserved LDHA exon 5 haplotype conferred increased risk for a paradoxical ventilatory response pattern to CO2 inhalation which robustly separated well subjects at high risk for PD from low‐risk control subjects. But, comparison of LDHA exon 5 genotypes in PD probands (n = 25) to that of random newborn controls (n = 182) did not demonstrate any significant differences. Given the pivotal role of LDH in the metabolism of lactate, a known inducer of panic attacks, and the dependence of LDH activity on cell pH, we suggest that LDHA polymorphisms may contribute to the variability to CO2 respiratory challenge. © 2003 Wiley‐Liss, Inc.
Absence of MeCP2 mutations in patients from the South Carolina autism project
Authors: Lobo‐Menendez Fe , Sossey‐Alaoui Khalid , Bell Jennifer M. , Copeland‐Yates Susan A. , Plank Sara M. , Sanford Stewart O. , Skinner Cindy , Simensen Richard J. , Schroer Richard J. , Michaelis Ron C. 
Published: January 2003

AbstractThe methyl‐CpG binding protein 2 (MeCP2) gene has recently been identified as the gene responsible for Rett syndrome (RS), a pervasive developmental disorder considered by many to be one of the autism spectrum disorders. Most female patients with MeCP2 mutations exhibit the classic features of RS, including autistic behaviors. Most male patients with MeCP2 mutations exhibit moderate to severe developmental delay/mental retardation. Ninety nine patients from the South Carolina autism project (SCAP) were screened for MeCP2 mutations, including all 41 female patients from whom DNA samples were available plus the 58 male patients with the lowest scores on standard IQ tests and/or the Vineland Adaptive Behavior Scale. No pathogenic mutations were observed in these patients. One patient had the C582T variant, previously reported in the unaffected father of an RS patient. Two other patients had single nucleotide polymorphisms in the 3′ UTR of the gene, G1470A and C1516G. These variants were seen in 12/82 and 1/178 phenotypically normal male controls, respectively. The findings from this and other studies suggest that mutations in the coding sequence of the MeCP2 gene are not a significant etiological factor in autism. © 2003 Wiley‐Liss, Inc.
Functional variation in promoter region of monoamine oxidase A and subtypes of alcoholism: Haplotype analysis
Authors: Parsian Abbas , Cloninger C. Robert , Sinha Rashmi , Zhang Zhen Hua 
Published: January 2003

AbstractMonoamine oxidase (MAO) is a mitochondrial enzyme involved in the degradation of certain neurotransmitter amines. MAO‐A, due to its function in central nervous system, has been one of the important candidate genes involved in the development of neuropsychiatric disorders. A functional polymorphism in the promoter region of the MAO‐A gene has been identified. This variation affects the transcriptional efficiency of the gene. To determine the role of this MAO‐A functional polymorphism in the development of subtypes of alcoholism, a sample of alcoholics and normal controls were screened with this marker. The allele frequency differences between total alcoholics, Types I and II alcoholics, and normal controls was not significant. Comparison of male alcoholics to male normal controls for the frequencies of two‐loci and three‐loci haplotypes was statistically significant. After Bonferroni's correction for multiple tests none of the results remained significant at P < 0.05. Our results indicate that MAO‐A may play a role in the development of alcoholism but the gene effect is very small. © 2003 Wiley‐Liss, Inc.
Human nuclear transcription factor gene CREM: Genomic organization, mutation screening, and association analysis in panic disorder
Authors: Domschke K. , Kuhlenbäumer G. , Schirmacher A. , Lorenzi C. , Armengol L. , DiBella D. , Gratacos M. , Garritsen H.S. , Nöthen M.M. , Franke P. , Sand P. , Fritze J. , Perez G. , Maier W. , Sibrowski W. , Estivill X. , Bellodi L. , Ringelstein E.B. , Arolt V. , Martin‐Santos R. , Catalano M. , Stögbauer F. , Deckert J. 
Published: January 2003

AbstractPanic disorder is an anxiety disorder with an estimated heritability of 48%. Variation in the gene of the nuclear transcription factor “cAMP‐responsive element modulator” (CREM) might contribute to its pathogenesis. CREM knock‐out mice exhibit significantly less anxiety behavior than wild‐type mice and the alternative CREM gene product “inducible cAMP early repressor” (ICER) plays a pivotal role in the hypothalamo‐pituitary‐adrenal (HPA) axis, which is disturbed in panic disorder. We characterized the genomic organization of the human CREM gene and performed a systematic mutation screening by means of single stranded conformational analysis (SSCA) in a sample of 40 German patients with panic disorder (DSM‐III‐R). Four novel single nucleotide polymorphisms in CREM promoters P 1 and P 4, one trinucleotide (ATT)‐repeat polymorphism in CREM promoter P 2—generating the ICER isoform—and a rare amino acid substitution in CREM exon glut 2 were identified. Association analysis in an extended sample of German patients (n = 88) revealed a significant excess of the shorter CREM P 2 promoter eight‐repeat trinucleotide allele and of genotypes containing the eight‐repeat trinucleotide allele in panic disorder (P = 0.02), in particular in panic disorder without agoraphobia (P = 0.001). A replication study in independent Italian (n = 76) and Spanish (n = 62) samples, however, failed to confirm this observation. This suggests that the CREM P 2 promoter trinucleotide polymorphism is not a major susceptibility factor in the pathogenesis of panic disorder. Functional analysis of the observed CREM P 2 promoter polymorphism as well as studies in independent panic disorder samples are necessary. © 2003 Wiley‐Liss, Inc.