bluuebunny/crossref_metadata_2025_split huggingface dataset:
Decreased exhaled nitric oxide in sickle cell disease: Relationship with chronic lung involvement
Authors: Girgis Reda E. , Qureshi Mohammed A. , Abrams Judith , Swerdlow Paul 
Published: March 2003

AbstractA deficiency in airway nitric oxide (NO) could contribute to pulmonary vaso‐occlusion in sickle cell disease (SCD). We measured the fractional expired concentration of NO (FENO) by chemiluminescence during a slow vital capacity maneuver against a positive pressure of 16 cm H2O at an expiratory flow rate of 50 mL/sec in 44 stable ambulatory adults with SCD and 30 healthy controls. A history of acute chest syndrome was present in 29 patients, and 22 complained of dyspnea. Mean ± SD FENO was significantly reduced in the SCD group compared with controls (14.8 ± 8.4 vs. 24.9 ± 13.5 ppb, P < 0.001). SCD patients with dyspnea had lower FENO than those without dyspnea (10.1 ± 5.7 vs. 19.6 ± 8 ppb, P < 0.001) and those with a history of ACS had lower values than those no episodes of ACS (13.0 ± 8.3 vs. 18.4 ± 7.6 ppb, P < 0.05). There was a weak correlation between FENO and percent‐predicted DLCO (r = 0.4, P = 0.02) among the SCD patients. We conclude that exhaled NO is reduced in adults with SCD, and this may play a role in the pathogenesis of acute chest syndrome and chronic sickle cell lung disease. Am. J. Hematol. 72:177–184, 2003. © 2003 Wiley‐Liss, Inc.
Reduced‐intensity bone marrow transplantation from an alternative unrelated donor for myelodysplastic syndrome of first‐donor origin
Authors: Komeno Yukiko , Kanda Yoshinobu , Kandabashi Koji , Kawazu Masahito , Goyama Susumu , Takeshita Masataka , Nannya Yasuhito , Niino Miyuki , Nakamoto Tetsuya , Kurokawa Mineo , Tsujino Shiho , Ogawa Seishi , Aoki Katsunori , Chiba Shigeru , Motokura Toru , Hirai Hisamaru 
Published: March 2003

AbstractA male patient had a relapse of myelodysplastic syndrome (MDS) 2 years after BMT from a female matched unrelated donor. Conventional cytogenetics, FISH, and short‐tandem repeat chimerism analysis proved a relapse of donor origin. He underwent reduced‐intensity BMT after a conditioning with fludarabine and busulfan, since he had impaired renal, liver, and pulmonary functions. Chimerism analysis on day 28 after the second BMT showed mixed chimerism of the first and the second donors, which later turned to full second‐donor chimerism on day 60. He developed grade II acute GVHD of the skin and cytomegalovirus reactivation, but both were improved with methylprednisolone and ganciclovir, respectively. He remains in complete remission 6 months after the second BMT. Reduced‐intensity second BMT from an alternative donor appeared to be a tolerable treatment option for donor‐derived leukemia/MDS after the first conventional transplantation. Am. J. Hematol. 72:220–222, 2003. © 2003 Wiley‐Liss, Inc.
Simple fluorescent PCR method for detection of large deletions in the β‐globin gene cluster
Authors: De Andrade Tiago Gomes , Saad Sara Teresinha Olalla , de Fatima Sonati Maria , Costa Fernando Ferreira 
Published: March 2003

AbstractWe developed a semi‐automated approach to detect large deletions in the β‐globin gene cluster, based on the quantitative differences in the amplifications of samples by a fluorescent PCR. With this strategy, we were able to detect the presence of HPFH‐2 in an African‐Brazilian subject, confirmed by sequencing analysis. Differently from other PCR strategies, GAP‐PCR for example, it has the potential to identify new deletions. Am. J. Hematol. 72:225–227, 2003. © 2003 Wiley‐Liss, Inc.
Modeling growth and senescence in physical performance among the ache of eastern paraguay
Authors: Walker Robert , Hill Kim 
Published: March 2003

AbstractThis article seeks to partially fill a paucity of available data on physical performance in hunter–gatherer societies. Quantitative data are presented on various physical performance measures conducted on the Ache of eastern Paraguay, hunter–gatherers up to the 1970s and now part‐time foragers and horticulturists. The performance battery was conducted on most individuals over 10 years of age, allowing for cross‐sectional examination of growth and senescence patterns across the lifespan for both sexes. These measures tend to display steep ascents and peak in the early 20s with slight declines thereafter with age for males, whereas females demonstrate peaks in performance earlier in life, with lower or no senescence rates thereafter. The result is a convergence in physical performance between men and women at later ages. We suggest that the female physiology faces reproductive constraints to performance early in life but shifts allocation to increased work output later in life during the long human postmenopausal stage. In contrast, the male physiology maximizes work output in early adult life. These schedules of physical performance are contrasted with schedules of food production ability, which tend to occur later in life, and therefore imply that skill rather than strength alone is an important component of the human foraging niche. Am. J. Hum. Biol. 15:196–208, 2003. © 2003 Wiley‐Liss, Inc.
Leukodystrophy associated with oligodontia in a large inbred family: Fortuitous association or new entity?
Authors: Atrouni Salim , Darazé Antoine , Tamraz Jean , Cassia Antoine , Caillaud Catherine , Mégarbané André 
Published: March 2003

AbstractWe describe a large inbred Syrian pedigree with an autosomal recessive neurodegenerative disorder. The clinical picture of the affected patients is oligodontia, and a degenerative neurological condition with onset around age 12, characterized by progressive ataxia and pyramidal syndrome. Abnormalities in the white matter and cortical atrophy were assessed by magnetic resonance imaging. Differential diagnosis and the possibility of a fortuitous association or the report of a hitherto unreported dento‐leukoencephalopathy are discussed. © 2003 Wiley‐Liss, Inc.
X‐chromosome inactivation (XCI) patterns in placental tissues of a paternally derived bal t(X;20) case
Authors: Peñaherrera M.S. , Ma S. , Ho Yuen B. , Brown C.J. , Robinson W.P. 
Published: March 2003

AbstractNon‐random X‐chromosome inactivation (XCI) is often seen in female carriers of balanced X‐autosome translocations and is generally attributed to a selective growth of cells that inactivate the normal X chromosome. However, little is known concerning when in development the selection acts, and thus whether skewed XCI would also be seen in placental tissues. Furthermore, as males with X‐autosome translocations are normally infertile, all translocations studied to date for XCI‐skewing have been either maternal or de novo in origin. We now present an analysis of XCI status in cord blood, umbilical cord and four different extraembryonic tissues from a female carrier of a paternally derived balanced (X;20) translocation. Using methylation based assays to determine XCI status, we found preferential inactivation of the non‐translocated X in cord blood, umbilical cord and amnion samples of the propositus. Remarkably, random XCI was evident in several placental tissues analyzed (chorion, and chorionic villi trophoblast and mesenchyme). While these findings support the hypothesis of strong selection against cells with an inactive translocated X‐chromosome in most embryonic/fetal tissues, they also suggest weaker selective forces taking place during placental development. Additionally, the finding of normal placental development in the present case, rules out the possibility of a parental bias to XCI in human extraembryonic tissues as a requisite for normal development. The finding of hypomethylation in extraembryonic tissues for two out of three markers used in the study is consistent with previous findings demonstrating low levels of methylation in these tissues. © 2003 Wiley‐Liss, Inc.
Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus‐Merzbacher disease
Authors: Woodward Karen , Cundall Maria , Palmer Rodger , Surtees Robert , Winter Robin M. , Malcolm Sue 
Published: March 2003

AbstractWe report cytogenetic and molecular findings in a family in which Pelizaeus‐Merzbacher disease has arisen by a sub‐microscopic duplication of the proteolipid protein (PLP1) gene involving the insertion of ∼600 kb from Xq22 into Xq26.3. The duplication arose in an asymptomatic mother on a paternally derived X chromosome and was inherited by her son, the proband, who is affected with Pelizaeus‐Merzbacher disease. The mother also carries a large interstitial deletion of ∼70 Mb extending from Xq21.1 to Xq27.3, which is present in a mosaic form. In lymphocytes, the mother has no normal cells, having one population with three copies of the PLP1gene (one normal X and one duplication X chromosome) and the other population having only one copy of the PLP1 gene (one normal X and one deleted X chromosome). Her karyotype is 46,XX.ish dup (X) (Xpter → Xq26.3::Xq22 → Xq22::Xq26.3 → Xqter)(PLP++)/46,X,del(X)(q21.1q27.3).ish del(X)(q21.1q27.3)(PLP−). Both ends of the deletion have been mapped by fluorescence in situ hybridization using selected DNA clones and neither involves the PLP1 gene or are in the vicinity of the duplication breakpoints. Prenatal diagnosis was carried out in a recent pregnancy and the complex counseling issues associated with these chromosomal rearrangements are discussed. © 2003 Wiley‐Liss, Inc.
Cranio‐cerebello‐cardiac (3C) syndrome: Follow‐up study of the original patient
Authors: Zankl Andreas , Güngör Tayfun , Schinzel Albert 
Published: March 2003

AbstractIn 1987, Ritscher et al. described two sisters with brain malformations of the posterior fossa, congenital heart defects, and similar craniofacial dysmorphisms. Subsequently, more than 20 cases have been reported and the syndrome became known as 3C (cranio‐cerebello‐cardiac) or Ritscher‐Schinzel syndrome. The majority of patients were younger than six years of age at the time of observation. Here we present a follow‐up study of one of the two sisters described by Ritscher et al. in 1987. At 21 years of age she is the oldest patient reported to date. We delineate growth, intellectual development, and evolution of her congenital developmental defects. We also provide evidence that the originally reported immune deficiency in this patient is not a primary B‐cell defect but a secondary loss of IgG via the gastrointestinal system. © 2003 Wiley‐Liss, Inc.
Thanatophoric dysplasia type II with encephalocele and aortic hypoplasia diagnosed in an anatomical specimen
Authors: Jap‐A‐Joe Simone M.E.A.A. , Oostra Roelof‐Jan , Maas Mario , Stoker Jaap , van der Horst Chantal M.A.M. 
Published: March 2003

AbstractA hitherto unknown combination of congenital anomalies was found in an anatomical specimen of a female neonate. External examination and additional CT and MRI studies showed thanatophoric dysplasia type II with cloverleaf skull and concomitant parietal meningoencephalocele and hypoplasia of the descending aorta. The possibilities of causal correlations are discussed. © 2003 Wiley‐Liss, Inc.
Shashi XLMR syndrome: Report of a second family
Authors: Castro Nelson H.C. , Stocco dos Santos Rita C. , Nelson Retecher , Beçak Willy , Hane Bernhard , Lindsey Charles J. , Lubs Herbert A. , Stevenson Roger E. , Schwartz Charles E. 
Published: March 2003

AbstractThis report describes a family with mental retardation in two brothers. The pedigree is consistent with either X‐linked mental retardation or autosomal recessive inheritance. The clinical features consist of coarse face, prominent lower lip, large testes, and obesity. This same constellation of findings was observed in a family with X‐linked mental retardation (XLMR) reported by Shashi et al. [2000: Am J Hum Genet 66:469–479]. Furthermore, haplotype analysis was consistent with localization of the Shashi XLMR syndrome in Xq26‐q27. Thus, the family likely represents a second occurrence of the Shashi XLMR syndrome. © 2003 Wiley‐Liss, Inc.
Association between the CCK‐A receptor gene and panic disorder
Authors: Ise Kiminobu , Akiyoshi Jotaro , Horinouchi Yukiko , Tsutsumi Takashi , Isogawa Koichi , Nagayama Haruo 
Published: March 2003

AbstractCholecystokinin (CCK) is one of the most abundant neurotransmitter peptides in the brain. CCK appears to play an important role in the neurobiology of anxiety and panic disorders (PD) in both humans and animals. Recently, we reported that lack of CCKAR had a significant anxiogenic‐like effect in rats. In this study, to investigate the role of CCKAR in PD, we compared the CCKAR gene in PD patients and normal controls. Subjects who fulfilled the DSM‐IV criteria for PD were 17 males and 26 females. The sequence containing the Pst I polymorphic site in the boundary between intron 1 and exon 2 of the CCKAR gene was studied. Pst I digestion of the PCR products gave two individual alleles: A1 and A2. The A1 allele was the undigested fragment and the A2 allele was the digested one with two variant bands at 264 and 180 bp. Genotypic frequencies were 20.9% (A1‐A1), 55.8% (A1‐A2), and 41.7% (A2‐A2) in patients, and 20.5% (A1‐A1), 46.2% (A1‐A2), and 33.3% (A2‐A2) in controls. Allelic frequencies were 48.8% (A1) and 51.2% (A2) in patients, and 43.6% (A1) and 56.4% (A2) in controls. The chi‐square test did not show a significant difference in either genotypic or allelic frequencies between patients and control subjects. The Pst polymorphism of CCKAR may not be associated with PD. © 2003 Wiley‐Liss, Inc.
Association between the cortisol response to opioid blockade and the Asn40Asp polymorphism at the μ‐opioid receptor locus (OPRM1)
Authors: Hernandez‐Avila Carlos A. , Wand Gary , Luo Xingguang , Gelernter Joel , Kranzler Henry R. 
Published: March 2003

AbstractThis study examined whether a reportedly functional polymorphism in the gene encoding the μ‐opioid receptor protein (A118G, which causes an Asn40Asp substitution in the receptor's extracellular domain), modifies the cortisol response to the opioid antagonist naloxone. The polymorphism occurs commonly in European Americans and some other population groups, underscoring its potential phenotypic significance. Methods: Using a balanced, within‐subject design involving two test sessions over a period of 3–7 days, we examined ACTH and cortisol responses to intravenous naloxone (125 μg/kg) or placebo in 30 healthy subjects (21 males, mean age = 24.4 years). Plasma ACTH and cortisol concentrations were measured over 120 min post infusion. DNA isolated from whole blood was PCR amplified and genotyped via restriction enzyme digestion, with genotypes assigned based on agarose gel size fractionation. Results: Subjects with one or more Asp40 alleles (n = 6; 5 heterozygotes and 1 homozygote) had significantly higher cortisol concentrations at baseline and at 15, 60, and 90 min after naloxone infusion than subjects homozygous for the Asn40 allele (n = 24). Subjects with the Asp40 allele also had a greater peak cortisol response and a greater area under the cortisol time curve than those homozygous for the Asn40 allele. There were no effects of the Asn40Asp polymorphism on plasma ACTH concentration or on self‐reported anxiety or distress. Conclusions: These findings are consistent with recent reports showing an enhanced cortisol response to naloxone and a reduced agonist effect of morphine‐6‐glucuronide among subjects with the Asp40 variant. Given evidence of its pharmacological significance, the clinical relevance of this polymorphism warrants further investigation. © 2003 Wiley‐Liss, Inc.
Colors of primate pelage and skin: Objective assessment of conspicuousness
Authors: Sumner Petroc , Mollon J.D. 
Published: March 2003

AbstractWe present a quantitative means of assessing the conspicuousness of animal coats or other objects in terms of the color vision of each possible observer. We measured reflectance spectra from the fur and skin of many primate species in order to provide an objective survey of the possibilities of pelage coloration found in extant primates. We show that the orange coloration displayed by many platyrrhine and some strepsirhine primates, while being conspicuous to humans, would be cryptic amongst foliage to all males and many females of their own species. In relation to this finding, we briefly review what is known of the color vision of birds that prey on primates, and assess how conspicuous the orange pelage would be to these predators. Am. J. Primatol. 59:67–91, 2003. © 2003 Wiley‐Liss, Inc.
Prevalence of antibodies to selected viruses in a long‐term closed breeding colony of rhesus macaques (Macaca mulatta) in Brazil
Authors: Andrade Marcia Ribeiro , Yee Joann , Barry Peter , Spinner Abigail , Roberts Jeffrey A. , Cabello Pedro H. , Leite Jose Paulo , Lerche Nicholas W. 
Published: March 2003

AbstractThe rhesus macaque breeding colony of the Oswaldo Cruz Foundation (FIOCRUZ) was established in 1932 from a founding stock of 100 animals. This population has remained closed to new animal introductions for almost 70 years. A serologic survey was performed to determine the prevalence of antibodies to selected viruses as a first approach to identifying viral pathogens endemic in this population. Banked serum samples were tested for antibodies to simian immunodeficiency virus (SIV), simian T‐lymphotropic virus (STLV), simian type D retrovirus (SRV), cercopithecine herpesvirus type‐1 (B virus), rhesus cytomegalovirus (RhCMV), measles virus (MV), and hepatitis A virus (HAV). All samples were negative for antibodies against the simian retroviruses. The overall prevalence of antibodies was 95% for RhCMV, 45% for B virus, 35% for HAV, and 1% for MV. Prevalence was found to vary by age group. Am. J. Primatol. 59:123–128, 2003. © 2003 Wiley‐Liss, Inc.
meso‐Verbindungen, Stiefkinder oder Lieblingskinder der stereoselektiven Synthese?
Authors: Hoffmann Reinhard W. 
Published: March 2003

AbstractDas Methoden‐Arsenal der stereoselektiven Synthese scheint nach mehr als einem Vierteljahrhundert intensiver Entwicklung voll ausgereift zu sein. Im Einklang damit wird auch das Potenzial, das meso‐Verbindungen in der stereoselektiven Synthese zukommt, klar erkannt. Es ist deswegen überraschend, dass die Anwendung von meso‐Verbindungen in der stereoselektiven Synthese in keiner Weise diesem Potenzial entspricht, denn ironischerweise ist die Synthese von meso‐Verbindungen selbst ein Problem der stereoselektiven Synthese – ein Problem, für dessen Lösung die heutigen Methoden nur bedingt hilfreich sind. In diesem Aufsatz werden die Strategien vorgestellt, die sich für die Synthese komplizierterer meso‐Verbindungen eignen, deren stereogene Zentren einen Abstand >1,4 haben. Hierbei werden auch meso‐Verbindungen mit mehr als vier stereogenen Zentren berücksichtigt. Die Kriterien zur Bewertung der verschiedenen Strategien und deren Kombinationen in der Synthese werden herausgestellt.
Organic Templates for the Generation of Inorganic Materials
Authors: van Bommel Kjeld J. C. , Friggeri Arianna , Shinkai Seiji 
Published: March 2003

AbstractMankind's fascination with shapes and patterns, many examples of which come from nature, has greatly influenced areas such as art and architecture. Science too has long since been interested in the origin of shapes and structures found in nature. Whereas organic chemistry in general, and supramolecular chemistry especially, has been very successful in creating large superstructures of often stunning morphology, inorganic chemistry has lagged behind. Over the last decade, however, researchers in various fields of chemistry have been studying novel methods through which the shape of inorganic materials can be controlled at the micro‐ or even nanoscopic level. A method that has proven very successful is the formation of inorganic structures under the influence of (bio)organic templates, which has resulted in the generation of a large variety of structured inorganic structures that are currently unattainable through any other method.
Fracture morphology of Mg(OH)2/polypropylene composites modified by functionalized polypropylene
Authors: Qiu Yixin , Lin Zhidan , Mai Kanchen 
Published: March 2003

AbstractThe morphologies of the fracture surface under impact and flexural testing of Mg(OH)2/Polypropylene (PP) composites and their modified composites were investigated by scanning electron microscopy. Experimental results indicated that addition of functionalized polypropylene (FPP) and acrylic acid (AA) and the formation of in situ FPP changed the fracture morphologies of Mg(OH)2/PP composites. We believe that addition of these modifiers improved the interfacial interaction and enhanced the interface adhesion between the particle and the matrix in Mg(OH)2/PP composites. The degree of improvement was more significant in Mg(OH)2/PP composites modified by the formation of in situ FPP. At low Mg(OH)2 content, 2 phr AA exhibited a marked effect, but at high Mg(OH)2 content, 4 phr AA afforded good effect. Due to the improved interface adhesion by interface interactions the fracture mechanism transformed from interface debonded fracture into a matrix fracture. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 88: 2148–2159, 2003
Atom transfer radical bulk polymerization of methyl methacrylate under microwave irradiation
Authors: Zhu Xiulin , Zhou Nianchen , He Xiaomei , Cheng Zhenping , Lu Jianmei 
Published: March 2003

AbstractMicrowave irradiation (MI) was applied to the atom transfer radical bulk polymerization of methyl methacrylate. The influence of the amount of the refluxing solvent used for controlling the polymerization temperature, irradiation power, irradiation time, and initiator concentration on the conversion, molecular weight, and molecular weight distribution of the polymers was studied with a benzyl chloride/cuprous chloride/2,2′‐bipyridyl initiation system and compared with the corresponding conventional heating (CH) process. In comparison with CH, the results can be summarized as follows. The polymerization rate for reaching 70% conversion increased 2.6–5.1 times under an irradiation power of 270–630 W. The apparent increasing rate constant was much larger than that with CH and increased with the irradiation power. MI produced a higher polymerization rate and conversion even if the concentration of the initiation system was very low (initial monomer concentration/initial initiator concentration = 200:0.33 mol/mol) and the polydispersity index (DI) was narrower; however, CH yielded almost no polymers. MI promoted the activities of the catalyst and monomer, and its initiation efficiency was higher than that with CH and increased with the irradiation power. MI obviously played an important role in promoting the polymerization rate of atom transfer radical polymerization (ATRP). MI reduced the concentration of the initiation system and perhaps made ATRP controlled (cf. uncontrolled ATRP with CH); at the same time, it made the DI values of the polymers narrower. In comparison with the initiation efficiencies found with benzyl bromide and 2,2′‐azobisisobutyronitrile used as initiators, the initiation efficiency with p‐toluene sulfonyl chloride used as an initiator was higher; moreover, DI was much narrower (1.17), and the polymerization rate was greater. © 2003 Wiley Periodicals, Inc. J Appl Polym Sci 88: 1787–1793, 2003