bluuebunny/crossref_metadata_2025_split huggingface dataset:
Frequency of the 677 C→T mutation of the methylenetetrahydrofolate reductase gene among Kuwaiti sickle cell disease patients
Authors: Adekile A.D. , Kutlar F. , Haider M.Z. , Kutlar A. 
Published: August 2002

AbstractSickle cell disease (SCD) is relatively mild among Kuwaiti Arabs. However, an atypical subset of patients exists with frequent, severe vaso‐occlusive crisis and osteonecrosis. The thermolabile variant of MTHFR, resulting from a C→T mutation at nucleotide 677, has been shown to be associated with hyperhomocysteinemia, which is an important risk factor for premature vascular disease. We have screened an unselected group of 41 Kuwaiti SCD patients (33 SS and 8 Sβ0‐thal) attending the Hematology Clinic of Kuwait University Teaching Hospital for the MTHFR mutation, using a PCR‐RFLP method. The patients were aged 2–41 years (mean of 12.8 ± 8.6). One (2.4%) individual was homozygous for the mutation while 15 (36.6%) were heterozygous, giving an allele frequency of 20.7%. Twenty‐one patients (14 SS and 7 Sβ0‐thal) were screened for osteonecrosis using MRI of the hip (spin‐echo T1‐ and T2‐weighted images). Seven (33.3%) had varying degrees of osteonecrosis, among whom the frequency of the 677 C→T allele was 21.4%. The frequency was identical among those without osteonecrosis. Although the allele frequency is higher among our patients compared to American SS patients, our results do not suggest an association with osteonecrosis. Am. J. Hematol. 66:263–266, 2001. © 2001 Wiley‐Liss, Inc.
Evolutionary demography and intrahousehold time allocation: School attendance and child labor among the Okavango Delta Peoples of Botswana
Authors: Bock John 
Published: August 2002

AbstractThe ways in which resources are allocated within households and/or families, especially within the context of children's time allocation to labor and schooling, has long been a subject of concern to demographers and economists. Differential investment in children and resulting differences in activity budgets may have significant effects on children's growth and development as well as on aspects of reproduction. This study uses predictions regarding parental investment in the embodied capital of offspring generated by evolutionary theory to examine the pattern of children's time allocation to labor and schooling among the Okavango Delta Peoples of Botswana. Models incorporating individual costs and benefits of resource allocation, conflicts of interests between men and women and between parents and offspring, and the effects of family composition, subsistence ecology, and gender are developed and applied to data on time allocation, household demography, and household economy. Several findings emerged: (1) The availability of alternative productive tasks strongly affects intra‐ and intergenerational labor substitution. (2) The presence of similarly aged children of the same sex within the household decreases the likelihood of both boys and girls engaging in a specific productive activity and increases the likelihood of children's school attendance. (3) Birth order, the labor needs of the household, and parents’ marital status all affect school attendance. These results have implications for understanding the determinants of children's time allocation to labor and schooling and consequent impacts on development, health, and welfare. Am. J. Hum. Biol. 14: 206–221, 2002.© 2002 Wiley‐Liss, Inc.
A prospective study of computer users: II. Postural risk factors for musculoskeletal symptoms and disorders
Authors: Marcus Michele , Gerr Fredric , Monteilh Carolyn , Ortiz Daniel J. , Gentry Eileen , Cohen Susan , Edwards Alicia , Ensor Cindy , Kleinbaum David 
Published: August 2002

AbstractBackgroundDespite widespread recommendations regarding posture during computer use, associations between specific postures and musculoskeletal health are not well characterized.MethodsSix hundred and thirty‐two newly hired computer users were followed prospectively to evaluate associations between posture and neck or shoulder (N/S) and hand or arm (H/A) musculoskeletal symptoms and musculoskeletal disorders. Participants' postures were measured at entry and they reported symptoms on weekly diaries. Participants reporting symptoms were examined for specific disorders. Multivariate Cox regression models were used to estimate associations between postural variables and risk of symptoms and disorders, controlling for confounding variables.ResultsKeying with an inner elbow angle > 121°, greater downward head tilt, and presence of armrests on the participants chair were associated with lower risk of N/S symptoms or N/S disorders. Keying with elbow height below the height of the “J” key and the presence of a telephone shoulder rest were associated with a greater risk of N/S symptoms or N/S disorders. Horizontal location of the “J” key > 12 cm from the edge of the desk was associated with a lower risk of H/A symptoms and H/A disorders. Use of a keyboard with the “J” key > 3.5 cm above the table surface, key activation force > 48 g, and radial wrist deviation of > 5° while using a mouse was associated with a greater risk of H/A symptoms or H/A disorders. The number of hours keying/week was associated with H/A symptoms and disorders.ConclusionsThe results suggest that the risk of musculoskeletal symptoms and musculoskeletal disorders may be reduced by encouraging specific seated postures. Am. J. Ind. Med. 41:236–249, 2002. © 2002 Wiley‐Liss, Inc.
Predictors of shoulder and back injuries in nursing home workers: A prospective study
Authors: Myers Douglas , Silverstein Barbara , Nelson Nancy A. 
Published: August 2002

AbstractBackgroundNursing assistants (NAs) working in nursing homes have among the highest back and shoulder injury rates in the US. Incidence, severity, and cost of non‐traumatic soft tissue musculoskeletal disorders in the nursing home industry in Washington State are quite high.MethodsTo determine whether resident characteristics data reported on the Health Care Financing Administration Minimum Data Set (MDS) could be used as a surrogate measure of cumulative exposure to physical loads, we conducted an 18‐month prospective study in one nursing home.ResultsThe combined NA injury incidence rate (IR) was 45.8 self‐reported back and shoulder injuries per 100 [FTE] workers per year. In general, MDS reported resident characteristics failed to predict risk with the exception of exposure to loss of voluntary leg mobility (OR = 1.11 per person‐shifts of exposure, 95% CI [0.97–1.27]), with the highest risk on the day shift (OR = 1.15, 95% CI [0.95–1.40]).ConclusionsThese findings suggest social integration and work organization issues may be more important predictors of back and shoulder injuries in nursing assistants than reported resident characteristics as measured by the MDS. Am. J. Ind. Med. 41:466–476, 2002. © 2002 Wiley‐Liss, Inc.
Gene‐based SNP genetic association study of the corticotropin‐releasing hormone receptor‐2 (CRHR2) in major depression
Authors: Villafuerte Sandra M. , Del‐Favero Jurgen , Adolfsson Rolf , Souery Daniel , Massat Isabelle , Mendlewicz Julien , Van Broeckhoven Christine , Claes Stephan 
Published: August 2002

AbstractAn increasing amount of data suggests that affective disorders are related to dysregulation of the hypothalamic‐pituitary‐adrenal (HPA) axis, the stress‐response system. Corticotropin‐releasing hormone receptor‐2 (CRHR2)‐deficient mice display a stress‐sensitive and anxiety‐like phenotype suggesting that the CRHR2 is a plausible functional candidate gene influencing the reactivity of the HPA axis and therefore the liability to develop affective disorders. In this study, a gene‐based single nucleotide polymorphism (SNP) map of the corticotropin‐releasing hormone receptor 2 (CRHR2) was constructed containing one synonymous cSNP in exon 10, two intronic SNPs, and two SNPs in the 5′ upstream regulatory region. No significant difference in allele or genotype frequency was found for four out of the five SNPs between Belgian unipolar (UP) patients and age‐, gender‐, and ethnicity‐matched controls. The cSNP did show allelic and genotypic association with borderline significance (P = 0.04). However, a replication study of this cSNP in a bipolar sample of Belgian origin and a Swedish UP sample did not show significant differences in allele and genotype frequencies. © 2002 Wiley‐Liss, Inc.
Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population†
Authors: Orioli Iêda M. , Vieira Alexandre R. , Castilla Eduardo E. , Ming Jeffrey E. , Muenke Maximilian 
Published: August 2002

AbstractOral clefts generally have a multifactorial etiology. A number of genes contribute to the formation of the face and palate. Cleft lip and/or palate can occur in pedigrees with autosomal dominant holoprosencephaly due to mutations in Sonic Hedgehog (SHH). In addition, animal models have shown that SHH is involved in face development. We thus examined the human SHH gene in 220 newborn infants with nonsyndromic oral clefts registered by the Estudio Colaborativo Latinoamericano de Malformaciones Congenitas: ECLAMC (Latin American Collaborative Study of Congenital Malformations). We found 15 variant bands in 13 patients with oral clefts, representing five different base changes, all of which were found by sequencing to represent silent polymorphisms. Four occurred in introns. The alteration occurring in an exon, Ser190Ser, may create a consensus sequence for the 3′splice site 6 bp downstream of the original consensus sequence. Thus, we did not identify any clearly disease‐causing mutation in SHH in these patients, and conclude that SHH mutations are not a frequent cause of isolated oral clefts in humans. Published 2002 Wiley‐Liss, Inc.
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers‐Danlos syndrome
Authors: Giunta C. , Nuytinck L. , Raghunath M. , Hausser I. , De Paepe A. , Steinmann B. 
Published: August 2002

AbstractSkin hyperelasticity, tissue fragility with atrophic scars, and joint hypermobility are characteristic for the classical type of Ehlers‐Danlos syndrome (EDS). The disease is usually inherited as an autosomal dominant trait; however, recessive mode of inheritance has been documented in tenascin‐X‐deficient EDS patients. Mutations in the genes coding for collagen α1(V) chain (COL5A1), collagen α2(V) chain (COL5A2), tenascin‐X (TNX), and collagen α1(I) chain (COL1A1) have been characterized in patients with classical EDS, thus confirming the suspected genetic heterogeneity. Recently, we described a patient with severe classical EDS due to a Gly1489Glu substitution in the α1(V) triple‐helical domain who was, in addition, heterozygous for a disease‐modifying Gly530Ser substitution in the α1(V) NH2‐terminal domain [Giunta and Steinmann, 2000: Am. J. Med. Genet. 90:72–79; Steinmann and Giunta, 2000: Am. J. Med. Genet. 93:342]. Here, we report on a 4‐year‐old boy with mild classical EDS, born to healthy consanguineous Turkish parents; the mother presented a soft skin, while the father had a normal thick skin. Ultrastructural analysis of the dermis revealed in the patient the typical “cauliflower” collagen fibrils, while in both parents variable moderate aberrations were seen. Mutation revealed the presence of a homozygous Gly530Ser substitution in the α1(V) collagen chains in the patient, while both parents were heterozygous for the same substitution. An additional mutation in either the COL5A1 and COL5A2 genes was excluded. Furthermore, haplotype analysis with polymorphic microsatellite markers excluded linkage to the genes coding for α3(V) collagen (COL5A3), tenascin‐X (TNX), thrombospondin‐2 (THBS2), and decorin (DCN). These new findings support further our previous hypothesis that the heterozygous Gly530Ser substitution is disease modifying and now suggest that in the homozygous state it is disease causing. © 2002 Wiley‐Liss, Inc.
Carrier testing in fragile X syndrome: When to tell and test
Authors: McConkie‐Rosell Allyn , Spiridigliozzi Gail A. , Sullivan Jennifer A. , Dawson Deborah V. , Lachiewicz Ave M. 
Published: August 2002

AbstractThis study explored age preferences about when to learn at‐risk status and have carrier testing in women who were undergoing testing for fragile X. Forty‐two women (20 carriers and 22 noncarriers) completed a structured interview prior to carrier testing and after learning their result. The majority favored learning at‐risk status and carrier status at < 18 years for themselves and their children. Preferred ages fell into four developmental categories: early childhood (0–9), preteen (10–13), teen (14–17), and adult (≥ 18). Although no significant mean changes in age responses were found between interviews or between carrier and noncarrier responses, a difference in the pattern of responses related to age categories was suggested. There appeared to be an increase in the number of responses in the 0–9 category at time 2. Also, the mean ages for testing were older than they were for telling at time 1, but not at time 2. For women indicating ages 0–9, the most frequent reason was to provide children with time to adjust. Those reporting ages 10–13 felt that the onset of puberty as well as a child's ability to understand, adjust, and cope were key determinants. Those preferring the teen years felt the possibility of sexual activity and planning for the future were important considerations. The developmental focus for adults was serious relationships. This study, through its unique longitudinal perspective of transition from uncertainty to certainty, builds on prior knowledge, has implications for genetic counseling, and suggests that the developmental stage of the child is important in determining when to tell and test. © 2002 Wiley‐Liss, Inc.
No evidence of an association between 5HT1B receptor gene polymorphism and suicide victims in a Japanese population
Authors: Nishiguchi Naoki , Shirakawa Osamu , Ono Hisae , Nishimura Akiyoshi , Nushida Hideyuki , Ueno Yasuhiro , Maeda Kiyoshi 
Published: August 2002

AbstractSerotonergic systems have been reported to mediate the control of aggression and/or impulsivity in humans and to be involved in suicidal behavior. Neurochemical studies showing serotonergic dysfunction in suicide appear to support the functional alteration of serotonergic systems due to gene polymorphisms. Knock‐out mice of the 5HT1B receptor gene have been reported to result in increased aggression. We hypothesized that the 5HT1B receptor‐mediated serotonergic dysfunction was implicated in suicide through disinhibition of aggression and/or impulsivity. To explore this hypothesis, we examined the association between suicide victims who completed suicide and the 5HT1B receptor gene G861C polymorphism. No significant differences in genotype distribution and allele frequencies were found between suicide victims and controls. Though there is the possibility of failing to detect small effects, these results show no evidence of an association between the 5HT1B receptor gene G861C polymorphism and suicide victims in a Japanese population and indicate that it is unlikely that the 5HT1B receptor is implicated in the susceptibility to suicide. © 2001 Wiley‐Liss, Inc.
Parental failure in captive cotton‐top tamarins (Saguinus Oedipus)
Authors: Bardi Massimo , Petto Andrew J. , Lee‐Parritz David E. 
Published: August 2002

AbstractSeveral New World monkey species experience high rates of infant mortality in captivity, and parental failure in the form of infant neglect and abuse is often regarded as one of the leading causes of this problem. We explored a large archival database to assess environmental, familial, and biological variables identified as significant for parental success in previous studies of captive tamarins, through several generations and across several dozen pedigrees. Using a stepwise multiple regression analysis we developed a model including the fewest variables able to identify statistically significant predictors of infant outcome. We found that seven independent variables could predict infant outcome in the colony. The most important appeared to be the presence of helpers with whom parents could share infant carrying. Mother’s experience and litter size were two other variables that contributed to a significant extent to explaining parental failure. Moreover, the model showed that there is a measurable contribution to infant outcome due to the health status of both parents. Finally, we found a distinct role for mothers and fathers, and that parental failure follows different patterns for abuse and rejection. Am. J. Primatol. 54:159–169, 2001. © 2001 Wiley‐Liss, Inc.
Detection of antibodies to selected human pathogens among wild and pet macaques (Macaca tonkeana) in Sulawesi, Indonesia
Authors: Jones‐Engel Lisa , Engel Gregory A. , Schillaci Michael A. , Babo Rosnany , Froehlich Jeffery 
Published: August 2002

AbstractHuman‐to‐primate disease transmission can potentially cause significant morbidity and mortality among wild primate populations and thus constitutes an important conservation issue. Our cross‐sectional study examines serological evidence of exposure to human pathogens among wild and pet macaques in Sulawesi. Serum samples taken from 11 pet and 15 wild macaques (Macaca tonkeana) were analyzed for antibodies to a panel of viruses commonly encountered in human populations. Antibodies to measles, influenza A, and parainfluenza 1 were detected in sera of both pet and wild macaques. Antibodies to parainfluenza 2 and 3 were found in the sera of wild macaques only. Possible routes of exposure, as well as implications for conservation are discussed. Am. J. Primatol. 54:171–178, 2001. © 2001 Wiley‐Liss, Inc.
Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Authors: Kato Mitsuhiro , Kanai Masayo , Soma Osamu , Takusa Yuichi , Kimura Toshiyuki , Numakura Chikahiko , Matsuki Takasumi , Nakamura Shigeki , Hayasaka Kiyoshi 
Published: August 2002

AbstractThe molecular basis of double cortex syndrome was investigated in 2 male patients. Magnetic resonance imaging of the patients' heads showed diffuse subcortical band heterotopia, as is seen in female patients. We found a heterozygous mutation for Asp50Lys or Arg39Stop in both patients. Microsatellite polymorphism analysis revealed that both patients had inherited a single X chromosome from their mothers. Restriction enzyme analysis using DNA extracted from the hair roots of each patient showed four different patterns in the combination of cells carrying wild and mutant alleles, which strongly suggest somatic mosaicism. We conclude that somatic mosaic mutations in the doublecortin gene in male patients can cause subcortical band heterotopia, and that molecular analysis using hair roots is a useful method for detecting somatic mosaicism.
Hypoperfusion of Wernicke's area predicts severity of semantic deficit in acute stroke
Authors: Hillis Argye E. , Wityk Robert J. , Tuffiash Elizabeth , Beauchamp Norman J. , Jacobs Michael A. , Barker Peter B. , Selnes Ola A. 
Published: August 2002

AbstractBased on earlier findings that the presence of word comprehension impairment (a deficit in the meaning of words, or lexical semantics) in acute stroke was strongly associated with the presence of hypoperfusion or infarct in Wernicke's area, we tested the hypothesis that the severity of word comprehension impairment was correlated with the magnitude of delay in perfusion of Wernicke's area on magnetic resonance perfusion‐weighted imaging. Eighty patients were prospectively studied within 24 hours of onset or progression of acute left hemisphere stroke symptoms, with diffusion‐weighted imaging, perfusion‐weighted imaging, and detailed language tests. For 50 patients without infarct in Wernicke's area, we found a strong Pearson correlation between the rate of errors on a word comprehension test and the mean number of seconds of delay in time‐to‐peak concentration of contrast in Wernicke's area, relative to the homologous region on the right. These results add further evidence for the crucial role of Wernicke's area (Brodmann's area 22) in word comprehension and indicate that the magnitude of delay on PWI may be a gross indicator of tissue dysfunction.
Synthesis of silver powder using a mechanochemical process
Authors: Keskinen J. , Ruuskanen P. , Karttunen M. , Hannula S.‐P. 
Published: August 2002

AbstractFine silver powder was synthesized in a mechanochemical process by inducing a solid‐state displacement reaction between AgCl and sodium. The process employed was ball milling in a planetary‐type ball mill. The reaction products were elemental silver and NaCl in powder form. The silver particles were separated out by washing the NaCl by‐product from the milled powder mixture. The milled powders were characterized using X‐ray diffraction (XRD), scanning electron microscopy (SEM) and transmission electron microscopy (TEM). The XRD determination showed that the reaction between AgCl and sodium was complete in almost all the experiments carried out. In some cases a minor quantity of Ag2Na was formed. SEM and TEM examinations revealed that, depending on the milling parameters employed, the size of the particles in the synthesized metallic silver powder was in the range 50–1000 nm. Copyright © 2001 John Wiley & Sons, Ltd.
Arsenic in the prepared edible brown alga hijiki, Hizikia fusiforme
Authors: Hanaoka Ken'ichi , Yosida Kenta , Tamano Mie , Kuroiwa Takayoshi , Kaise Toshikazu , Maeda S. 
Published: August 2002

AbstractTo reduce the arsenic content of the leaves and branches of an edible brown alga, hijiki Hizikia fusiforme, the Japanese traditional washing and soaking process before cooking was shown to be effective: about 32 to 60% of the arsenic was removed from the alga at room temperature. Increasing the amount of water in which the hijiki was soaked did not affect arsenic removal. On the other hand, arsenic content decreased linearly as the temperature used to wash and soak hijiki increased from 0 to 60 °C. In the washed and soaked hijiki, inorganic arsenic accounts for 90% of the total arsenic and dimethylated arsenic compounds 10%. Copyright © 2001 John Wiley & Sons, Ltd.
Polycarbonate/polyalkylene terephthalate blends: Interphase interactions and impact strength
Authors: Pesetskii S. S. , Jurkowski B. , Koval V. N. 
Published: August 2002

AbstractBlends of polycarbonate (PC) and poly(alkylene terephthalate) (PAT) such as poly(butylene terephthalate) (PBT) and poly(ethylene terephthalate) (PET) were investigated. It was learned that processes of phase separation in blends consisting of PC and PAT can cause variations in properties of both the amorphous and crystalline phases. In PC/PBT blends the DSC technique did not detect crystalline portion of PBT with its concentrations up to 20 wt %. For PBT = 40 wt %, it forms a continuous phase, and blend's crystallinity is close to the additive values. The glass transition temperature (Tg) shifts to the lower temperature region. The relaxation spectrometry revealed strong adhesion between phases in the blends over the temperature range from the completion of β‐transition to TgPAT. This interaction becomes weaker between TgPAT and TgPC. Temperature‐dependent variations in the molecular mobility and interphases interactions in the blends affect their impact strength. Over the temperature range where interphases interactions occur and the two components are in the glassy state, the blend is not impact resistant. Over the temperature range between TgPAT and TgPC the blends become impact‐resistant materials. This is because energy of crack propagation in the PAT amorphous phase—being in a high‐elastic state—dissipates. It is postulated that the effect of improving the impact strength of PC/PAT blends, which was found for temperatures between the glass transition temperatures of the mixed components, is also valid for other binary blends. © 2002 Wiley Perioodicals, Inc. J Appl Polym Sci 84: 1277–1285, 2002; DOI 10.1002/app.10472