bluuebunny/crossref_metadata_2025_split huggingface dataset:
CD5‐negative phenotype of monoclonal B‐lymphocytosis of undetermined significance (MLUS)
Authors: Wang Chen , Amato Dominick , Fernandes Bernard 
Published: August 2002

AbstractMonoclonal B lymphocytosis of undetermined significance (MLUS) is a benign condition of clonal lymphocytosis. Because of its clonal small lymphocytes and indolent clinical course, MLUS resembles and may be indistinguishable from an early stage of chronic lymphocytic leukemia (CLL). In this study we characterized the immunophenotype of MLUS. The clonal B lymphocytes from three patients of typical MLUS were shown to be CD5− and CD23− phenotype. Their immunophenotypic features remained unchanged during the clinical course. The results indicate a distinct immunophenotype of MLUS that can be useful for its diagnosis and differentiation from CLL. Am. J. Hematol. 69:147–149, 2002. © 2002 Wiley‐Liss, Inc.
Invasive pulmonary aspergillosis in neutropenic patients during hospital construction: Before and after chemoprophylaxis and institution of HEPA filters
Authors: Oren Ilana , Haddad Nohad , Finkelstein Renato , Rowe Jacob M. 
Published: August 2002

AbstractBetween September 1993 and December 1993, during extensive hospital construction and indoor renovation, a nosocomial outbreak of invasive pulmonary aspergillosis occurred in acute leukemia patients treated in a regular ward that has only natural ventilation. The observed infection rate was 50%. Chemoprophylaxis with intravenous continuous low‐dose amphotericin B was then instituted as a preventive measure. During the next 18 months invasive pulmonary aspergillosis developed in 43% of acute leukemia patients. After that period a new hematology ward was opened with an air filtration system through high‐efficiency particulate air filtration (HEPA) filters, and a bone marrow transplantation program was started on the hematology service. During the following three years, none of the acute leukemia or bone marrow transplantation patients who were hospitalized exclusively in the hematology ward developed invasive pulmonary aspergillosis, although 29% of acute leukemia patients who were housed in a regular ward, because of shortage of space in the new facility, still contracted invasive pulmonary aspergillosis. Overall, 31 patients were diagnosed with invasive pulmonary aspergillosis during almost five years: 74% of patients recovered from invasive pulmonary aspergillosis, and 42% are long‐term survivors; 26% of patients died of resistant leukemia with aspergillosis, but no one died of invasive pulmonary aspergillosis alone. In conclusion, during an on‐going construction period, an extremely high incidence rate of invasive pulmonary aspergillosis in acute leukemia patients undergoing intensive chemotherapy was observed. Institution of low‐dose intravenous amphotericin B prophylaxis marginally reduced the incidence rate of invasive pulmonary aspergillosis. Keeping patients in a special ward with air filtration through a HEPA system eliminated invasive pulmonary aspergillosis completely. Among patients who developed invasive pulmonary aspergillosis, early diagnosis and treatment are probably the explanation for the favorable outcome. Am. J. Hematol. 66:257–262, 2001. © 2001 Wiley‐Liss, Inc.
Paris‐Trousseau syndrome platelets in a child with Jacobsen's syndrome
Authors: Krishnamurti L. , Neglia J.P. , Nagarajan R. , Berry S.A. , Lohr J. , Hirsch B. , White J.G. 
Published: August 2002

AbstractThe thrombocytopenia in an infant with clinical features of Jacobsen's syndrome characterized by multiple congenital anomalies, cardiac defects, psychomotor retardation, and deletion of chromosome 11 at 11q23.3 has been evaluated. Study of his platelets in the electron microscope revealed giant alpha granules in his cells identical in appearance to those reported in the family with Paris‐Trousseau syndrome. As a result, the Paris‐Trousseau syndrome appears to be a variant of the Jacobsen syndrome, and the thrombocytopenia observed in all cases of chromosome 11q23.3 deletion due to dysmegakaryopoieses. Giant alpha granules are frequently observed in normal platelets during long‐term storage and may form in Jacobsen and Paris‐Trousseau platelets during prolonged residence in the bone marrow. Am. J. Hematol. 66:295–299, 2001. © 2001 Wiley‐Liss, Inc.
Evolutionary approach to below replacement fertility
Authors: Kaplan Hillard , Lancaster Jane B. , Tucker W. Troy , Anderson K.G. 
Published: August 2002

AbstractThe large human brain, the long period of juvenile dependence, long life span, and male support of reproduction are the co‐evolutionary result of the human niche based on skill‐intensive techniques of resource accrual. The regulation of fertility under traditional conditions is based upon a co‐evolved psychology and physiology where adjustments of investment in offspring depend upon the returns to skill and mortality hazards. When all wealth is somatic, the hormonal system controlling ovulation and implantation translates income into genetic descendants. In modern society the existence of extra‐somatic wealth is a critical condition to which our evolved proximate physiological mechanisms do not respond. However, psychological mechanisms regulating parental investment in offspring quality may lead to greater and greater investment in own and offspring education, a smaller desired family size, a delay in the onset of reproduction, and a reduction in the total numbers of offspring produced. This delay in reproduction can cause many individuals to produce fewer children than desired because fecundity falls during the reproductive part of the life course. As more individuals in a society follow this pattern, more will fail to reach their desired family size. At the same time the effective use of birth control decreases the numbers of families producing more children than desired. Below replacement fertility can result. Predictions from this model were tested using data from the National Survey of Families and Households and the Albuquerque Men study. Am. J. Hum. Biol. 14:233–256, 2002. © 2002 Wiley‐Liss, Inc.
An evolutionary ecological perspective on demographic transitions: Modeling multiple currencies
Authors: Low Bobbi S. , Simon Carl P. , Anderson Kermyt G. 
Published: August 2002

AbstractLife history theory postulates tradeoffs of current versus future reproduction; today women face evolutionarily novel versions of these tradeoffs. Optimal age at first birth is the result of tradeoffs in fertility and mortality; ceteris paribus, early reproduction is advantageous. Yet modern women in developed nations experience relatively late first births; they appear to be trading off socioeconomic status and the paths to raised SES, education and work, against early fertility. Here, [1] using delineating parameter values drawn from data in the literature, we model these tradeoffs to determine how much socioeconomic advantage will compensate for delayed first births and lower lifetime fertility; and [2] we examine the effects of work and education on women's lifetime and age‐specific fertility using data from seven cohorts in the Panel Study of Income Dynamics (PSID). Am. J. Hum. Biol. 14:149–167, 2002. © 2002 Wiley‐Liss, Inc.
Performance of cochlear implant recipients with GJB2‐related deafness
Authors: Green Glenn E. , Scott Daryl A. , McDonald Joshua M. , Teagle Holly F.B. , Tomblin Bruce J. , Spencer Linda J. , Woodworth George G. , Knutson John F. , Gantz Bruce J. , Sheffield Val C. , Smith Richard J.H. 
Published: August 2002

AbstractCongenital profound hearing loss affects 0.05–0.1% of children and has many causes, some of which are associated with cognitive delay. For prelingually‐deafened cochlear implant recipients, the etiology of deafness is usually unknown. Mutations in GJB2 have been established as the most common cause of heritable deafness in the United States. In this report, we identify cochlear implant recipients with GJB2‐related deafness and examine the performance of these individuals. Cochlear implant recipients received a battery of perceptive, cognitive, and reading tests. Neither subjects nor examiners knew the etiology of deafness in these individuals. The implant recipients were then examined for mutations in GJB2 using an allele‐specific polymerase chain reaction assay, single‐strand conformation polymorphism analysis, and direct sequencing. GJB2 mutations were the leading cause of congenital deafness among the cochlear implant recipients screened. Cochlear implant recipients with GJB2‐related deafness read within one standard deviation of hearing controls better than other congenitally deaf cochlear implant recipients and non‐cochlear implant recipients. Individuals with congenital deafness should be offered GJB2 screening. Positive results establish an etiologic diagnosis and provide prognostic, genetic, and therapeutic information. Effective rehabilitation for profoundly deaf individuals with GJB2‐related deafness is possible through cochlear implantation. © 2002 Wiley‐Liss, Inc.
Family‐based association study of serotonin transporter promoter in suicidal adolescents: No association with suicidality but possible role in violence traits
Authors: Zalsman Gil , Frisch Amos , Bromberg Michal , Gelernter Joel , Michaelovsky Elena , Campino Alon , Erlich Zippy , Tyano Samuel , Apter Alan , Weizman Abraham 
Published: August 2002

AbstractThe serotonin transporter–linked promoter region polymorphism (5‐HTTLPR) is thought to be associated with some serotonin dysfunction–related psychopathologies such as depression and anxiety disorders. Suicide and suicide‐related behaviors such as violence, aggression, and impulsivity have been reproducibly associated with serotonin dysfunction and are partially genetic. This study examined the association of 5‐HTTLPR with suicidal behavior and related traits in Israeli suicidal adolescent inpatients using the haplotype relative risk (HRR) method that controls for artifacts caused by population stratification. Forty‐eight inpatient adolescents who recently attempted suicide were assessed by structured interviews for detailed clinical history, diagnoses, suicide intent, suicide risk, impulsivity, violence, and depression. Blood samples were collected and DNA extracted from patients and their biological parents. The 5‐HTTLPR allele frequencies were tested for association with suicidality by the HRR method. In addition, the relationship between genotypes and phenotypic severity of several clinical parameters was analyzed. No significant allelic association of the 5‐HTTLPR polymorphism with suicidal behavior was found (chi square = 0.023; P = 0.88). Analysis of variance of the suicide‐related trait measures for the three genotypes demonstrated a significant difference in violence measures between patients carrying the LL and LS genotypes (9.50±4.04 vs. 5.36±4.03; P = 0.029). This study suggests that the 5‐HTTLPR polymorphism is unlikely to have major relevance to the pathogenesis of suicidal behavior in adolescence but may contribute to violent behavior in this population. © 2001 Wiley‐Liss, Inc.
Investigation of association of 13 polymorphisms in eight genes in southeastern African American Alzheimer disease patients as compared to age‐matched controls
Authors: Perry Rodney T. , Collins Julianne S. , Harrell Lindy E. , Acton Ronald T. , Go Rodney C.P. 
Published: August 2002

AbstractAlzheimer disease (AD) is an emotionally devastating and exceptionally costly disease. Apolipoprotein E (APOE) is a major risk factor gene for AD regardless of age of onset or family history. However, this association may not be as strong or consistent in ethnic groups such as African Americans, raising the possibility of other modifier gene(s). In a group of African American AD patients, a significantly increased risk of AD was associated with two E4 alleles (OR = 5.6; 95% CI = 1.5–21.0) or one E4 allele (OR = 2.5; 95% CI = 1.3–5.0) when compared to E3/E3 genotype, and there was a significant lowering of age of onset for affecteds with E4/E4 genotype as compared to one E2 allele (P = 0.02) or all others (P = 0.03). We also found a significant increase in age of onset with the −308 #2 (A) allele of TNF when compared to AD cases with no #2 allele. A significant increase in age was also demonstrated with the #2 allele (99 base pairs) of the microsatellite TNFa, located ∼ 10.5 kb upstream of TNF. When these two alleles were combined with the TNF −238G (#1) allele to give a haplotype, the significant increase in age was still demonstrated. Polymorphisms in the APOE promoter and six other candidate genes did not appear to demonstrate any significant association with our African American AD patients. Our results confirm the established association of APOE4 to AD observed in several ethnic groups, including African Americans. In addition, TNF appears to have some modifying effect in AD, primarily on age of onset, or it could be in linkage disequilibrium with a modifier locus nearby. © 2001 Wiley‐Liss, Inc.
Paleopathological and biomolecular study of tuberculosis in a medieval skeletal collection from England
Authors: Mays S. , Taylor G.M. , Legge A.J. , Young D.B. , Turner‐Walker G. 
Published: August 2002

AbstractNine human skeletons of medieval date from a rural English burial site show signs of skeletal tuberculosis. They were subject to polymerase chain reaction (PCR) assays aimed at detecting traces of DNA from infecting mycobacteria, with the purpose both of confirming the paleopathological diagnosis of tuberculosis and determining in individual cases whether disease was due to M. tuberculosis or M. bovis. In all nine cases, evidence for M. tuberculosis complex DNA was found, and in all instances it appeared that disease was due to M. tuberculosis rather than M. bovis. The significance of the findings for understanding tuberculous infection in rural agrarian communities in medieval England is discussed. Am J Phys Anthropol 114:298–311, 2001. © 2001 Wiley‐Liss, Inc.
Ontogeny of locomotion in rhesus macaques (Macaca mulatta): II. Postural and locomotor behavior and habitat use in a free‐ranging colony
Authors: Wells James P. , Turnquist Jean E. 
Published: August 2002

AbstractThis study quantifies changes in postural and locomotor behavior as well as habitat use across the life span of free‐ranging rhesus macaques (Macaca mulatta) in the Cayo Santiago colony in Puerto Rico. It focuses on developmentally related changes from birth to adulthood, and complements an earlier study by Turnquist and Wells ([1994] J Hum Evol 26:487–499) on the early postnatal ontogeny of the musculoskeletal system of the same colony. A total of 6,551 locomotor and postural events was analyzed. Selection and use of substrate correlated well with age. The more sedentary adult and dependent infant select safe, wide, horizontal arboreal settings in contrast to the older Infant IIs and Juveniles, who are learning locomotor and postural skills through independent chase and play. Infant macaques, when independent, often employ a low center of gravity and widely abducted limbs in order to broaden their contact with the base of support. This study shows that the previously reported ontogenetic changes in morphology are closely paralleled by changes in postural and locomotor behavior, and these in turn are correlated to changes in habitat use, particularly during the formative years. Am J Phys Anthropol 115:80–94, 2001. © 2001 Wiley‐Liss, Inc.
A novel, blood‐based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy
Authors: Ho Mengfatt , Gallardo Eduard , McKenna‐Yasek Diane , De Luna Noemi , Illa Isabel , Brown Jr. Robert H. 
Published: August 2002

AbstractLimb girdle muscular dystrophy 2B and Miyoshi myopathy were recently found to be allelic disorders arising from defects in the dysferlin gene. We have developed a new diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy, which screens for dysferlin expression in blood using a commercially available monoclonal antibody. Unlike current methods that require muscle biopsy for immunodiagnosis, the new method is simple and entails a significantly less invasive procedure for tissue sampling. Moreover, it overcomes some of the problems associated with the handling and storage of muscle specimens. In our analysis of 12 patients with limb girdle muscular dystrophy 2B or Miyoshi myopathy, the findings obtained using the new assay are fully consistent with the results from muscle immunodiagnosis.
Increased expression of the amyloid precursor β‐secretase in Alzheimer's disease
Authors: Holsinger R. M. Damian , McLean Catriona A. , Beyreuther Konrad , Masters Colin L. , Evin Geneviève 
Published: August 2002

Abstractβ‐Secretase cleavage represents the first step in the generation of Aβ polypeptides and initiates the amyloid cascade that leads to neurodegeneration in Alzheimer's disease. By comparative Western blot analysis, we show a 2.7‐fold increase in protein expression of the β‐secretase enzyme BACE in the brain cortex of Alzheimer's disease patients as compared to age‐matched controls. Similarly, we found the levels of the amyloid precursor protein C‐terminal fragment produced by β‐secretase to be increased by nearly twofold in Alzheimer's disease cortex.
Nigrostriatal collaterals to thalamus degenerate in parkinsonian animal models
Authors: Freeman Amanda , Ciliax Brian , Bakay Roy , Daley Joseph , Miller R. Daniel , Keating Glenda , Levey Allan , Rye David 
Published: August 2002

AbstractMovement, cognition, emotion, and positive reinforcement are influenced by mesostriatal, mesocortical, and mesolimbic dopamine systems. Here, we describe a fourth major pathway originating from mesencephalic dopamine neurons: a mesothalamic system. The dopamine transporter, specific to dopamine containing axons, was histochemically visualized in thalamic motor and limbic‐related nuclei and regions that modulate behavioral state as opposed to sensory nuclei in rats, nonhuman primates, and humans. Anatomical tracing established this innervation's origin via axon collaterals from the mesostriatal pathway. These findings implicate the thalamus as a novel site for disease specific alterations in dopamine neurotransmission, such as exist with nigral degeneration attending Parkinson's disease. This was confirmed in hemiparkinsonian animals where reduction of thalamic dopamine innervation occurred coincident with signs of active axonal degeneration. Individual mesencephalic dopamine neurons therefore have the potential to modulate normal and pathologic behavior not only through traditional nigrostriatal pathways but also by way of axon collaterals that innervate the thalamus.
Frameshift mutation in the collagen VI gene causes Ullrich's disease
Authors: Higuchi Itsuro , Shiraishi Tadafumi , Hashiguchi Teruto , Suehara Masahito , Niiyama Takahito , Nakagawa Masanori , Arimura Kimiyoshi , Maruyama Ikuro , Osame Mitsuhiro 
Published: August 2002

AbstractPatients with Ullrich's disease have generalized muscle weakness, multiple contractures of the proximal joints, and hyperextensibility of the distal joints. Recently, we found a deficiency of collagen VI protein in two patients with Ullrich's disease. In this study, we detected a homozygous 26 bp deletion in exon 14 of the collagen VI alpha 2 gene (COL6A2) in one patient. This mutation causes a frameshift and a premature termination codon, and results in a truncated collagen VI alpha 2 chain. Our data suggest that at least some cases of Ullrich's disease result from recessive mutations in COL6A2.
Preparation methodologies of polymer matrix nanocomposites
Authors: Avella M. , Errico M. E. , Martelli S. , Martuscelli E. 
Published: August 2002

AbstractRecently, as a result of developments in nanotechniques, there has been a growing interest in the field of nanocomposites. The use of inorganic nanoparticle‐filled composites can provide high‐performance materials that find applications in several industrial fields. In the present work, preliminary studies concerning the preparation of polymethylmethacrylate (PMMA)/CaCO3­nanoparticles composites are reported. The preparation was performed by using an in situ polymerization methodology. In particular, the nanocomposites have been obtained by a modified radical polymerization of the MMA dispersing the nanoparticles directly into the acrylic monomer. Nanocomposites having 2, 3, 4 and 6 wt% of nanoparticles were prepared. The influence of the nanoparticles on the chemico‐physical properties of the polymeric matrix and the mode of dispersion were investigated by performing thermal, mechanical and morphological analyses. Copyright © 2001 John Wiley & Sons, Ltd.
Molecular mechanism of haemolysis induced by triphenyltin chloride
Authors: Burda Kvĕtoslava , Lekki Janusz , Cieślak Jakub , Kruk Jerzy , Lekka MaŁgorzata , Dubiel StanisŁaw , Stanek Jan , Stachura Zbigniew 
Published: August 2002

AbstractOrganometals are known to cause lysis of cells, but the molecular mechanism of their action is not recognized. In this work, we have examined the interaction of triphenyltin with erythrocyte membranes. We determined the order of haemolytic activity of the investigated organometal species as being: triphenyllead > tripropyltin = triphenyltin > triethyllead > trimethyltin. Such an order suggests that the haemolytic activity increases with the increasing hydrophobicity of the organic ligands. Compounds containing lead are more toxic than the respective complexes of tin. Triphenyltin chloride (Ph3SnCl) is very effective in lysis of erythrocytes. Using 119Sn Mössbauer spectroscopy we showed that triphenyltin interacts with the protein components of pig erythrocyte membranes in a highly specific way, but we did not detect any interaction of triphenyltin with pig haemoglobin. The Mössbauer spectrum was fitted with a single doublet characterized by hyperfine parameters that differ considerably from those reported for other organotin compounds in membranes of red blood cells. Applying the point charge model of the electric field gradient for the analysis of the environment of tin bonds from the quadrupole splitting, we could indicate Nhet from histidine and/or Sthiol from cysteine as the only possible ligands of Ph3Sn(IV). We expect that protein components of erythrocyte membranes having similar cysteine and histidine arrangement, such as in cat or rat haemoglobins, which provide high‐affinity binding sites for organotins, can bind triphenyltin with high affinity. We give some arguments that ankyrin and β‐spectrin are the most probable targets of Ph3Sn(IV) action and indicate its potential binding sites within the proteins. The highly specific interaction of triphenyltin with the membrane cytoskeleton components, postulated by us, should already influence the rigidity of red blood cells at the stage preceding the lysis of erythrocytes. To support this hypothesis, we carried out scanning force microscopy measurements of red blood cells elasticity. We have observed a lower stiffness for erythrocytes treated with concentrations of Ph3SnCl that caused less than 20% of haemolysis. Copyright © 2002 John Wiley & Sons, Ltd.