bluuebunny/crossref_metadata_2025_split huggingface dataset:
Tumor lysis syndrome (TLS) following fludarabine therapy for chronic lymphocytic leukemia (CLL): Case report and review of the literature
Authors: Hussain Kashif , Mazza Joseph J. , Clouse Lawrence H. 
Published: March 2003

AbstractAdenosine deaminase inhibitors have proven superior to alkylating agent‐based therapies in inducing clinical and hematologic remissions in treated and previously untreated chronic lymphocytic leukemia (CLL) patients, and they have become increasingly accepted as a standard for therapy. We report the case of a 66‐year‐old patient with a 7‐year history of CLL who had been previously treated with alkylating agents. Upon presentation with abdominal lymphadenopathy, a 5‐day course of the nucleoside analogue, fludarabine, was administered. Two days after completion, the patient developed acute tumor lysis syndrome (TLS) that induced renal failure with hyperkalemia and hyperuricemia. This resulted in critical, life‐threatening complications requiring hospitalization, aggressive hemodialysis and fluid replacement therapy. While only 5 other cases of TLS associated with fludarabine therapy have been reported since 1989, we recommend that adenosine deaminase inhibitor therapy be initiated with the addition of allopurinol, and that hydration with copious amounts of oral fluids during therapy be encouraged in order to help protect against the renal effects of potential TLS induced by these agents. Am. J. Hematol. 72:212–215, 2003. © 2003 Wiley‐Liss, Inc.
HIV‐Related Hodgkin's disease with central nervous system involvement and association with Epstein‐Barr virus
Authors: Massarweh Suleiman , Udden Mark M. , Shahab Imran , Kroll Michael , Sears David A. , Lynch Garrett R. , Teh Bin S. , Lu Hsin H. 
Published: March 2003

AbstractCentral nervous system (CNS) involvement is a rare occurrence in the course of human immunodeficiency virus (HIV)‐related Hodgkin's disease (HD). We report the clinical course of a patient with HIV infection who developed systemic HD, mixed cellularity subtype, later complicated by leptomeningeal involvement. The patient died from his illness, and autopsy was performed. Examining the brain lesion, Epstein‐Barr virus (EBV) presence was demonstrated in Reed‐Sternberg cells by immunohistochemistry using an EBER probe for EBV RNA. This is the second case report in the English literature of HD involving the CNS in an HIV‐positive individual, and the first demonstrating EBV presence. Extranodal presence of Hodgkin's disease in patients with HIV infection is probably related to immunosuppression, and physicians treating this illness should be alert to the potential of unusual sites of involvement. Am. J. Hematol. 72:216–219, 2003. © 2003 Wiley‐Liss, Inc.
Childhood overweight problem in a selected school district in Hawaii
Authors: Chai Dennis , Kaluhiokalani Norman , Little James , Hetzler Ronald , Zhang Shuqiang , Mikami Judy , Ho Kwok 
Published: March 2003

AbstractAnthropometric measurements were collected from 1,437 public school students in a selected school district in Hawaii every year from 1992 to 1996. Results showed that boys and girls of Hawaiian ancestry (HA) are generally taller in stature and somewhat heavier in weight than their non‐Hawaiian counterparts (Non‐HA). Also, there are no clear differences between the two groups in BMI, sums of skinfolds, waist and hip circumferences, and waist/hip circumference ratios. When compared to data from NHANES III (Centers for Disease Control and Prevention), the median statures of HA boys and girls are very close to the median statures of NHANES III, but the body weights of HA are heavier at most ages. Also, the BMI values of HA are distinctly higher and their medians are closer to the 75th percentile of NHANES III. In addition, the values of the sums of skinfolds and the waist and hip circumferences of HA are also higher at most ages than NHANES III. These multiple anthropometric indicators suggest that there might be more overweight children and adolescents of HA. When compared to the statistics in NHANES III, there are twice as many HA and Non‐HA boys and girls classified as obese. Clearly, a serious childhood problem exists among the children in this selected school district in Hawaii. More research is needed in other school districts in Hawaii. Also, it is suggested in this study that using multiple anthropometric indicators, rather than a single one, may be more accurate and appropriate in determining overweight problems in a youth population. Am. J. Hum. Biol. 15:164–177, 2003. © 2003 Wiley‐Liss, Inc.
Novel missense mutations and a 288‐bp exonic insertion in PAX9 in families with autosomal dominant hypodontia
Authors: Das Parimal , Hai Mehreen , Elcock Claire , Leal Suzanne M. , Brown Donald T. , Brook Alan H. , Patel Pragna I. 
Published: March 2003

AbstractWe describe the molecular analysis of three families with hypodontia involving primarily molar teeth and report two novel mutational mechanisms. Linkage analysis of two large families revealed that the hypodontia was linked to the PAX9 locus. These two families revealed missense mutations consisting of a glutamic acid substitution for lysine and a proline substitution for leucine within the paired domain of PAX9. A pair of identical twins affected with hypodontia in a third family demonstrated a 288‐bp insertion within exon 2 that resulted in a putative frameshift mutation and a premature stop codon. The insertion was associated with the loss of 7‐bp from exon 2. A block of 256‐bp of sequence within the insertion was completely identical to downstream sequence from the second intron of the PAX9 gene. These studies extend the spectrum of mutations in PAX9 associated with hypodontia to include heretofore undescribed categories, including missense mutations. © 2003 Wiley‐Liss, Inc.
Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): A prospective study of 130 patients with inherited peripheral neuropathies
Authors: Ravisé Nicole , Dubourg Odile , Tardieu Sandrine , Aurias Françoise , Mercadiel Monique , Coullin Philippe , Ruberg Merle , Catala Martin , Lesourd Sylvie , Brice Alexis , LeGuern Eric 
Published: March 2003

AbstractCharcot‐Marie‐Tooth (CMT) disease and hereditary neuropathy with pressure palsies (HNPP) are two frequent hereditary motor and sensory neuropathies. CMT is characterized by slowly progressive weakness and atrophy, primarily in peroneal and distal leg muscles. The most frequent form, CMT1A, is due, in most cases, to the duplication of a 1.5 Mb region on chromosome 17p11.2 containing the peripheral myelin protein 22 gene (PMP22). The phenotype seems to result from dosage of the PMP22 gene. This hypothesis is reinforced by the existence of HNPP, which is clinically characterized by various recurrent truncular palsies or sensory loss precipitated by minor trauma, which is caused by deletion of the same 1.5 Mb region in 17p11.2. In clinical practice, the detection of the duplication or the deletion in 17p11.2, which permits a positive diagnosis, is still performed by time consuming methods (Southern blot or various combinations of molecular tools). We developed a method for the rapid detection of 17p11.2 rearrangements, using “direct FISH” and PRINS analyses, which does not require cell culture. In a prospective study of 92 patients with CMT and 38 with suspected HNPP, we compared this new technique to classical strategies like Southern blot. The results demonstrate the high sensitivity and specificity of the new FISH technique for the diagnosis of CMT1A and HNPP. Moreover, because of its simplicity and rapidity, this technique provides a useful alternative to the molecular approaches that have been used to diagnose segmental aneusomies, especially in the case of duplications that often go undetected. © 2003 Wiley‐Liss, Inc.
Variation in the coding sequence and flanking splice junctions of the estrogen receptor alpha (ERα) gene does not play an important role in genetic susceptibility to bipolar disorder or bipolar affective puerperal psychosis
Authors: Middle Fiona , Jones Ian , Robertson Emma , Morey Jaime , Lendon Corinne , Craddock Nick 
Published: March 2003

AbstractGenes involved in estrogen pathways have been proposed as possible candidates influencing susceptibility to bipolar disorder and the affective symptoms suffered by many women during the puerperal period. The estrogen receptor alpha (ERα) gene in particular has been a subject of interest and has recently been intensively screened for variations of potential relevance to psychiatric disorders, resulting in the identification of four mutations in individuals with bipolar disorder or puerperal psychosis. We have examined the frequency of these four ERα variations in a case control study using a group of mixed gender bipolar individuals (N = 231), further classified into subsets of parous bipolar females with (N = 112) and without (N = 50) puerperal psychosis, and a non‐psychiatric comparison group (N = 110). We have also investigated the families in which the variations were initially detected, for evidence of co‐segregation of the variants with mood disorder. We found no evidence in our case control sample to support the involvement of any of the ERα variations in either the aetiology of bipolar disorder or puerperal triggering of bipolar episodes. Nor did we find co‐segregation of ERα variants and disease in any of the four families examined. We conclude that variation in the coding sequence and flanking splice junctions of the ERα gene does not play an important pathogenic role in the majority of cases of Bipolar Disorder or Bipolar Affective Puerperal Psychosis. © 2003 Wiley‐Liss, Inc.
Gender‐specific molecular heterosis and association studies: Dopamine D2 receptor gene and smoking
Authors: Lee Hong‐Seock 
Published: March 2003

AbstractIf the concept of the gender‐specific molecular heterosis is not considered and tested, incorrect conclusions would easily be drawn in association studies. Therein, heterosis and its gender effect in the genetic effect of DRD2 gene for smoking were examined with 187 healthy Korean individuals. The male smokers showed a higher A1 allele frequency (P = 0.016) and prevalence (P = 0.049) than those of the male non‐smokers, and the female smokers showed a lower frequency of heterozygotes (P = 0.018) than the female non‐smokers. However, the association of DRD2 gene with smoking found in each gender disappeared when both males and females were considered as one group because of the opposite genetic effect of DRD2 gene for smoking: (1) while 75% of heterozygotes males were smokers, only 22% of female heterozygotes were; (2) males showed an excess of heterozygotes and the deviation from Hardy‐Weinberg expectations in smokers, while these were true in the female non‐smokers; and (3) in non‐smokers, females were different from the males exhibiting a significantly higher prevalence (P = 0.005) and frequency (P = 0.015) of A1 allele, and significantly different genotype (P = 0.017) distribution, and higher frequency of heterozygotes (P = 0.055). Meanwhile, in smokers, males showed higher frequency of heterozygotes (P = 0.019) compared to females. The results indicate that gender‐specific molecular heterosis at DRD2 gene for smoking is also applicable in healthy individuals as well as schizophrenics. Moreover, this concept has general applicability to other candidate genes and biological phenotypes. © 2003 Wiley‐Liss, Inc.
Distribution of haplotypes derived from three common variants of the NR4A2 gene in Japanese patients with schizophrenia
Authors: Iwayama‐Shigeno Yoshimi , Yamada Kazuo , Toyota Tomoko , Shimizu Hiromitsu , Hattori Eiji , Yoshitsugu Kiyoshi , Fujisawa Tetsuya , Yoshida Yukako , Kobayashi Toshio , Toru Michio , Kurumaji Akeo , Detera‐Wadleigh Sevilla , Yoshikawa Takeo 
Published: March 2003

AbstractDysregulation in dopaminergic neurotransmission might play a role in the pathogenesis of schizophrenia, and therefore genetic components of the dopamine (DA) pathway may confer risk. The NR4A2 (Nurr1) gene is essential for the development and maintenance of mesencephalic DA‐synthesizing neurons. Moreover, Nurr1 forms a heterodimer with the retinoid X receptor and disturbances in the retinoid‐signaling cascade may be involved in susceptibility to schizophrenia. To investigate the potential genetic contribution of NR4A2, we performed a case‐control association study using three common variants in the gene [−2922(C)2‐3, IVS6 + 17∼+18insG, EX8 + 657(CA)9‐10] that were in strong linkage disequilibrium with each other. We did not detect a significant allelic or genotypic association. Haplotypes derived from all three polymorphisms generated similar results. These data do not support the notion that the NR4A2 gene plays a major role in risk for schizophrenia among Japanese individuals. © 2003 Wiley‐Liss, Inc.
Linkage mapping of beta 2 EEG waves via non‐parametric regression
Authors: Ghosh Saurabh , Begleiter Henri , Porjesz Bernice , Chorlian David B. , Edenberg Howard J. , Foroud Tatiana , Goate Alison , Reich Theodore 
Published: March 2003

AbstractParametric linkage methods for analyzing quantitative trait loci are sensitive to violations in trait distributional assumptions. Non‐parametric methods are relatively more robust. In this article, we modify the non‐parametric regression procedure proposed by Ghosh and Majumder [2000: Am J Hum Genet 66:1046–1061] to map Beta 2 EEG waves using genome‐wide data generated in the COGA project. Significant linkage findings are obtained on chromosomes 1, 4, 5, and 15 with findings at multiple regions on chromosomes 4 and 15. We analyze the data both with and without incorporating alcoholism as a covariate. We also test for epistatic interactions between regions of the genome exhibiting significant linkage with the EEG phenotypes and find evidence of epistatic interactions between a region each on chromosome 1 and chromosome 4 with one region on chromosome 15. While regressing out the effect of alcoholism does not affect the linkage findings, the epistatic interactions become statistically insignificant. © 2003 Wiley‐Liss, Inc.
Association analysis of the HOPA12bp polymorphism in schizophrenia and manic depressive illness
Authors: Kirov George , Georgieva Ludmila , Nikolov Ivan , Zammit Stan , Jones Gaynor , Poriazova Nadezhda , Tolev Todor , Owen Richard , Jones Sue , Owen Michael J. 
Published: March 2003

AbstractVariations in exon 42 of the HOPA (human opposite paired) gene have been associated with mental retardation, hypothyroidism and psychiatric disorders. We attempted to replicate the association with schizophrenia using 309 parent‐offspring trios from Bulgaria and 367 unrelated cases and 368 blood donors from the UK. We also tested 125 bipolar trios from Bulgaria, 112 bipolar trios from the UK and a sample of 178 unrelated bipolar cases and 188 blood donors from the UK. The frequency of HOPA12bp in the 556 UK blood donors was 2.6% and it was not significantly different in the UK patients groups, where it ranged from 1.2 to 3.8%. Sixteen mothers transmitted the HOPA12bp allele to schizophrenic offspring, while 12 did not transmit, a non‐significant difference. There was a trend for under‐transmission of the rare allele to bipolar patients (T/NT = 4/10) and they had a lower rate of that allele than schizophrenic patients in the Bulgarian population (1% vs. 4.2%, P = 0.043). However the two diagnostic groups had similar allele frequencies in the UK populations: 2% versus 2.6%, P = 0.6. We conclude that the HOPA polymorphism is unlikely to be a major risk factor in the pathogenesis of these major psychiatric disorders although there could be a small effect in schizophrenia. © 2003 Wiley‐Liss, Inc.
Enhanced production of amyloid precursor protein mRNA by peripheral mononuclear blood cell in Alzheimer's disease
Authors: Jiang Sanduo , Zhang Mingyuan , Ren Daming , Tang Guomei , Lin Sicui , Qian Yiping , Zhang Ye , Jiang Kaida , Li Fei , Wang Dongxiang 
Published: March 2003

AbstractPrevious studies have suggested the involvement of amyloid precursor protein (APP) in Alzheimer's disease (AD), as exons 16 and 17 of the APP gene mutations have been found in some familial AD patients. Furthermore, overexpression and deposition of the beta amyloid peptide, a proteolytic product of APP, have been considered as a pathological hallmark of Alzheimer's disease. Therefore, it is of particular interest to determine the expression of APP gene at the transcription level for better understanding of the roles of APP gene in AD pathogenesis. In this work, we employed the quantitative reverse transcriptase‐polymerase chain reaction (RT‐PCR) to quantify APP mRNA transcripts in the peripheral mononuclear blood cells (PMBC) of 52 Alzheimer's patients, 28 vascular dementia (VD) patients, and 60 healthy elderly controls. The results showed that the amount (mean ± SEM) of APP transcripts per microgram of total cDNA was 4.05 ± 0.27, 2.73 ± 0.33, and 2.59 ± 0.27 amole in AD, VD, and healthy controls, respectively. There was a significant increase (P < 0.05) in the expression of APP mRNA transcripts in AD compared with that in VD or in healthy controls. Thus, our data indicated that variation of APP gene expression in PMBC might be a pathogenic source of Alzheimer's disease. © 2003 Wiley‐Liss, Inc.
Ranging behavior and foraging ecology of lowland woolly monkeys (Lagothrix lagotricha poeppigii) in Yasuní National Park, Ecuador
Authors: Fiore Anthony Di 
Published: March 2003

AbstractIn a year‐long study, I investigated the ranging behavior of lowland woolly monkeys (Lagothrix lagotricha poeppigii) in a terra firma rainforest in Yasuní National Park, Ecuador, and examined the relationship between ranging, diet, food availability, and food patch use for this population. In Yasuní the total home range sizes for two social groups were 124 and 108 ha, which are much smaller than has been reported previously for Lagothrix elsewhere in its geographic distribution. The mean yearly day range estimates for these same groups were 1,792 m and 1,878 m, which are well within the range of variation previously reported. Ranging behavior was not correlated with the current habitat‐wide abundance of ripe fruit, which comprises 76.3% of the yearly diet for this population, but was associated with one measure of likely insect prey abundance and with the availability of immature fruits, a minimal part of the diet. Specifically, one study group moved significantly greater distances during months of high likely insect prey abundance and when immature fruits were abundant. The second study group also traveled farther when likely insect prey abundance was high and when immature fruits were abundant, although the latter relationship only approached significance. This group also devoted significantly more of its daily activity budget to travel during these times. These results indicate that variation in ripe fruit abundance makes no meaningful contribution to explaining variation in ranging behavior for this population of woolly monkeys. Instead, the results raise the possibility that some aspects of the ranging behavior of frugivorous primates may be related to the availability of alternative food sources, such as animal prey, or to monitoring the phenological status of important fruit trees, rather than simply reflecting the degree of intragroup feeding competition. Am. J. Primatol. 59:47–66, 2003. © 2003 Wiley‐Liss, Inc.
Dynamic plantar pressure distribution during terrestrial locomotion of bonobos (Pan paniscus)
Authors: Vereecke Evie , D'Août Kristiaan , De Clercq Dirk , Van Elsacker Linda , Aerts Peter 
Published: March 2003

AbstractWe collected high‐resolution plantar pressure distributions of seven bonobos during terrestrial bipedal and quadrupedal locomotion (N = 146). Functional foot length, degree of hallux abduction, and total contact time were determined, and plots, showing pressure as a function of time for six different foot regions, were generated. We also studied five adult humans for comparison (N = 13). Both locomotion types of the bonobo show a large variation in plantar pressure distributions, which could be due to the interference of instantaneous behavior with locomotion and differences in walking speed and body dimensions. The heel and the lateral midfoot typically touch down simultaneously at initial ground contact in bipedal and quadrupedal walking of bonobos, in contrast with the typical heel‐strike of human bipedalism. The center of pressure follows a curved course during quadrupedalism, as a consequence of the medial weight transfer during mid‐stance. Bipedal locomotion of bonobos is characterized by a more plantar positioning of the feet and by a shorter contact time than during quadrupedal walking, according to a smaller stride and step length at a higher frequency. We observed a varus position of the foot with an abducted hallux, which likely possesses an important sustaining and stabilizing function during terrestrial locomotion. Am J Phys Anthropol 120:373–383, 2003. © 2003 Wiley‐Liss, Inc.
Rheological study on O−carboxymethylated chitosan/cellulose polyblends from LiCl/N,N‐dimethylacetamide solution
Authors: Li Zhi , Zhuang Xupin , Liu Xiaofei , Guan Yunlin , Yao Kangde 
Published: March 2003

AbstractAn O−carboxymethylated chitosan (O− CMCh) water solution (I) and N,N‐dimethylacetamide (DMAc) emulsion (II) were blended with a cellulose LiCl/DMAc solution, and corresponding polyblends (Polyblends I and II) were obtained. The rheology of the three fluids, that is, the cellulose solution and Polyblends I and II, was investigated. The cellulose solution was characterized by a power‐law fluid. When an O‐CMCh water solution or DMAc emulsion was added to the cellulose solution, the power‐law curve was preserved. The power‐law indexes (n) of all three fluids increased along with the temperature. Polyblend I displays an n close to but a little higher than that of the cellulose solution, while Polyblend II shows a much higher power index than those of the other two fluids. The values of the apparent viscosity (ηa) for all the three fluids are close and decrease along with an increase in the temperature. Adding O‐CMCh microparticles into Polyblends I and II results in a decrease in the structural viscosity index (Δη) in comparison to that of the cellulose solution, and this effect is very obvious for Polyblend I. A cellulose solution's Δη declines with the augmentation of temperature, while the Δη's of both Polyblends I and II show minimum values at about 323 K. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 88: 1719–1725, 2003