bluuebunny/crossref_metadata_2025 huggingface dataset:
Agonistic and sociable behaviors in the mound‐building mice, Mus spicilegus: A comparative study with Mus musculus domesticus
Authors: Patris B. , Gouat P. , Jacquot C. , Christophe N. , Baudoin C.
Published: August 2002

Present social organization and mating systems result from selective pressures and ecological conditions but also from proximate interactions between individuals. Many studies report on a polygynous mating system with a social group territoriality in commensal populations of Mus musculus domesticus. However, little is known about the social organization of other Mus species living in outdoor conditions, such as the mound‐building mouse Mus spicilegus. Comparative studies between M. m. domesticus and M. spicilegus have already shown behavioral differences in female sexual preferences and paternal care. To study agonistic and sociable interactions and gain insight into the social organization and the mating system of M. spicilegus, the present study compared intraspecific dyadic encounters between unfamiliar adults in these two species. Results demonstrated less tolerance between females and between the sexes in M. spicilegus than in M. m. domesticus unfamiliar mice. The consequences of those differences between M. spicilegus and M. m. domesticus on social organization and mating system are discussed. Aggr. Behav. 28:75–84, 2002. © 2002 Wiley‐Liss, Inc.
The influence of competitive status (winner/loser) on the behavior of male rats in three models of anxiety
Authors: Peres Rogério Corrêa , Leite José Roberto
Published: August 2002

Studies indicate that features such as prior stressful experience, strain, gender, and age can influence the behavior of rats in animal models of anxiety. In the present study, we examined the possible influence of competitive status (winner/loser) in three such models: the elevated plus‐maze, the open field, and the social interaction test. One hundred to 135‐day‐old male Wistar rats were conditioned to traverse a straight runway tube to obtain food. Subsequently, two rats were placed at the same time in the runway tube and, being unable to pass each other, one of them pushed the other to the opposite end‐box. The rats were categorized as winners or losers in this competition. One week after the straight runway tube test, the rats were submitted to the anxiety models, where it was observed that winner rats showed greater locomotor activity than the losers in the three models studied. Furthermore, winner rats showed less immobility and higher central and total locomotor activity in the open field and a greater duration of social interaction in the social interaction test. These results suggest that competitive status has an influence on the locomotor activity of rats in animal models of anxiety. However, whether competitive status influences anxiety as assessed in these models is unclear, and further investigations are warranted. Aggr. Behav. 28:164–171, 2002. © 2002 Wiley‐Liss, Inc.
Geographic diversification strategy and the implications of global market integration in table grapes
Authors: Krueger Angela M. , Salin Victoria , Gray Allan W.
Published: August 2002

The geographic diversification mode for U.S. agribusinesses to establish an international presence is examined, using the example of table grapes. This study extends the analytical work on geographic diversification strategy in a firm‐level application that considers how longer marketing seasons might affect early‐season premium prices. The method draws on market integration tests from the industrial organization literature. The extent of market integration is examined using a probabilistic measure. Then, a simulation of profit incorporates the probability that markets are integrated. Tests on the market for table grapes indicate high probability that markets for domestic grapes and imports from Chile are not integrated (0.81 and 0.91). Long distances and the lack of overlap in production seasons play key roles in this finding. The simulation that makes operational the findings of limited integration suggests that geographic diversification is more profitable and of lower risk than production in California alone. [JEL Classification: Q130, Q170, F140] © 2002 Wiley Periodicals, Inc.
Clonal evolution of blasts in an elderly patient with CD56+ relapsed acute promyelocytic leukemia
Authors: Itoh Shigeki , Sugawara Takeshi , Enomoto Sanae , Ono Yoko , Numaoka Hideharu , Utsugisawa Taiju , Murai Kazunori , Ishida Yoji , Kuriya Shin‐ichiro
Published: August 2002

We describe an elderly patient with acute promyelocytic leukemia (APL), whose leukemic cells expressed CD56 antigen at relapse but not at diagnosis. Chromosome analysis revealed that blasts with t(8;15;17)(q24.1;q22;q11.2) increased from 4 of 20 cells (20%) at first relapse to 10 of 14 cells (71.4%) at second relapse. In addition, the positivity for CD56 expression on blasts judged by flow cytometric analysis using CD45 blast gating was also increased from 14.2% at first relapse to 75% at second relapse. Although conventional chemotherapy was performed for the initial disease and the first relapse, relapse developed again. Therefore, three courses of intensive postremission chemotherapy including concurrent administration of recombinant human granulocyte colony‐stimulating factor (rhG‐CSF) with cytarabine were performed after achievement of complete remission (CR) by the treatment with all‐trans‐retinoic acid (ATRA). Although PML‐RARαmRNA was not detectable by reverse transcription polymerase chain reaction (RT‐PCR), a third relapse occurred. This case demonstrated clonal evolution from a CD56− to a CD56+ blast population and provided further support for the suggestion that CD56 expression might be an unfavorable prognostic factor in t(15;17) APL. Am. J. Hematol. 69:59‐63, 2002. © 2002 Wiley‐Liss, Inc.
Epstein‐Barr virus‐associated peripheral T‐Cell and NK‐Cell proliferative disease/lymphoma: clinicopathologic, serologic, and molecular analysis
Authors: Mitarnun Winyou , Suwiwat Supaporn , Pradutkanchana Jintana , Saechan Vannarat , Ishida Takafumi , Takao Satomi , Mori Atsumi
Published: August 2002

Peripheral T‐cell proliferative disease/lymphoma is a group of diseases which exhibits heterogeneity in clinical manifestations, pathological findings and outcomes. They are highly associated with the Epstein‐Barr virus (EBV) infection. It is likely that EBV plays an important role in the tumorigenesis. From January 1997 through April 2000, we identified 100 patients. One hundred healthy age‐ and sex‐ matched controls were selected. Serologic tests for the EBV infection and the study of EBV genomes in circulating non‐T cells (CD3− cells), T cells (CD3+ cells), and T‐cell subsets (CD4+ and CD8+ cells) were performed. The main features were prolonged fever, weight loss, hepatosplenomegaly, lymphadenopathy, multiorgan involvement, anemia, and high serum alkaline phosphatase and lactate dehydrogenase. Fifty‐one patients had an aggressive course and died; median survival was 21 months. Chemotherapy was not effective in improving survival. Anti‐viral capsid antigen‐IgG and anti‐early antigen‐IgG were significantly elevated, whereas there was no significant difference in anti‐EBV nuclear antigen. EBV internal repeat‐1 region (IR‐1) in the peripheral blood CD3+ cells was detected in 65% of the patients but in none of the controls. For the CD3− cells, EBV IR‐1 was detected in 88% of the patients and 50% of the controls. Among twenty‐five patients whose CD3+ cells were positive for EBV IR‐1, 6 (24%) showed EBV IR‐1 in only CD4+ cells, 6 (24%) in only CD8+ cells, and 13 (52%) in both CD4+ and CD8+ cells. The 30‐bp deletion variant of the EBV latent membrane protein‐1 gene was significantly higher in the patients than in the controls. These data support the chronic infective process. The EBV which is dormant in non‐T cells may infect T cells and contribute to the pathogenesis of disease in a select group of patients. Am. J. Hematol. 70:31–38, 2002. © 2002 Wiley‐Liss, Inc.
Hypercoagulability states in upper‐extremity deep venous thrombosis
Authors: Leebeek F.W.G. , Stadhouders N.A.M. , van Stein D. , Gómez‐García E.B. , Kappers‐Klunne M.C.
Published: August 2002

Deep venous thrombosis of the upper extremity (DVTUE) is a rare thrombotic disorder that may occur spontaneously but is most often related to predisposing factors, such as an indwelling central venous catheter, malignancy, or exercise. The role of coagulation disorders, i.e., a hypercoagulable state in the pathogenesis of DVTUE is not well known. We have evaluated both genetic and acquired thrombophilia parameters in consecutive patients with DVTUE. A hypercoagulable state was found in 32% of the patients. The most frequent coagulation abnormality was the presence of lupus anticoagulant or anticardiolipin antibodies (27%). Factor V Leiden mutation was detected in two patients, antithrombin deficiency in one, and none of the patients had the prothrombin G20210A gene variant or protein C or S deficiency. The prevalence of coagulation abnormalities was not significantly different in a subgroup of patients with spontaneous DVTUE as compared to those with an obvious predisposing factor, such as an indwelling central venous catheter. We conclude that antiphospholipid antibodies are frequently found in patients with DVTUE. Factor V Leiden mutation, prothrombin 20210A gene variant, protein C deficiency, and protein S deficiency do not seem to play a major pathogenetic role in DVTUE. Am. J. Hematol. 67:15–19, 2001. © 2001 Wiley‐Liss, Inc.
Value of duplex and color doppler ultrasonography in the evaluation of orbital vascular flow and resistance in sickle cell disease
Authors: Aikimbaev Kairgeldy , Guvenc Birol , Canataroglu Abdullah , Canataroglu Hatice , Baslamisli Fikri , Oguz Mahmut
Published: August 2002

The aim of the present study was to assess and to compare the orbital and retinal vascular flow dynamics and resistance in patients with homozygous sickle cell disease with controls by means of duplex and color Doppler ultrasonography. Forty‐six patients with homozygous sickle cell disease (SCD) and 20 healthy subjects were included in the study. None of the patients had objective signs of ocular involvement. Duplex and color Doppler ultrasonography of the ophthalmic, short posterior ciliary, and central retinal arterial flows of the both eyes were performed to assess peak systolic flow velocity (PSFV), end‐diastolic flow velocity (EDFV), and mean flow velocity (MFV) through entire cardiac cycle with further calculation of resistive indices (RI) and pulsatility indices (PI). Ophthalmic arterial flow velocities were significantly increased in patients with SCD than in controls (P < 0.0001). Blood flow velocities of the central retinal artery were found to be significantly reduced (P < 0.0001) while RI and PI values were markedly higher (P < 0.02 and P < 0.03) in patients with SCD compared to controls. Reduction of retinal vascular flow velocities and increase of retinal vascular resistance were significantly related to the mean hemoglobin and hematocrit levels, red blood cell count, and mean corpuscular hemoglobin volume (P < 0.009, P < 0.01, P < 0.02, and P < 0.04, respectively). In conclusion, Doppler ultrasonography in patients with SCD who had no objective signs of ocular involvement allowed detection enhancement of ophthalmic flow velocities, reduced retinal flow velocities, and increased retinal vascular resistance, which are associated with haematological features. Am. J. Hematol. 67:163–167, 2001. © 2001 Wiley‐Liss, Inc.
Reactivity of autoantibodies of autoimmune hemolytic anemia with recombinant rhesus blood group antigens or anion transporter band3
Authors: Iwamoto Sadahiko , Kamesaki Toyomi , Oyamada Takasi , Okuda Hiroshi , Kumada Maki , Omi Toshinori , Takahashi Junko , Tani Yoshihiko , Omine Mitsuhiro , Kajii Eiji
Published: August 2002

The specificity of autoantibodies in autoimmune hemolytic anemia (AIHA) has been studied using the serological procedure and immunoprecipitation technique with rare phenotype red cells. We attempted to analyze specificity using recombinant rhesus (Rh) blood group and band3 antigens expressed on erythroleukemic cell lines, KU812E. The autoantibody eluates were isolated by the acid elution procedure from the red cells of 20 AIHA patients. The recombinant Rh antigens, RhD, cE, ce, CE, and chimera antigens CE‐D and D‐CE, were obtained by retroviral cDNA transduction into KU812E cells, and the cell line expressing the antigens was cloned. Band3 cDNA was also obtained and introduced into KU812E and cloned KU812 expressing RhcE. The reactivities of AIHA eluates with recombinant Rh and band3 antigens were studied by flow cytometry. Fifteen eluates reacted with at least one of the RhcE, ce, or CE antigens, and four eluates reacted with RhD. Seven eluates with strong Rh specificity were studied further using chimera antigen. Five eluates showed reduced or lost reactivity, although two eluates reacted identically with the chimera antigens as wild type. These results indicated that conformational epitopes constituted by RhD or CE specific exofacial peptide loops are important for autoantibodies in most cases. Seven eluates reacted with band3, five exclusively. The coexpression study of RhcE and band3 did not enhance the expression of either antigen nor the reactivity with patient eluates, indicating that association of Rh and band3 was not involved in the appearance of autoantigen. Am. J. Hematol. 68:106–114, 2001. © 2001 Wiley‐Liss, Inc.
Anthropometric characteristics of pregnant women in Cali, Colombia and relationship to birth weight
Authors: Piperata Barbara A. , Dufour Darna L. , Reina Julio C. , Spurr G.B.
Published: August 2002

Anthropometric dimensions were collected from 46 pregnant women living in Cali, Colombia to gain a better understanding of how poor, urban women deal with the demands of pregnancy and to identify relationships between maternal characteristics and infant birth weight. Height, weight, skinfold thicknesses (subscapular, suprailiac, thigh, calf, and triceps), and circumferences (hip, thigh, calf, and mid‐upper arm) were measured on all women. Infant measurements were weight and length. The women were measured in the second and third trimesters, and a sub‐sample (n = 16) was measured twice in the third trimester. Mean birth weight was 3,137.6 ± 488.5 g (n = 44), and mean length was 49.8 ± 3.0 cm. All but three of the infants were full‐term, and the incidence of low birth weight (LBW) was 9%. The 46 women showed a significant increase in weight (P < 0.001); subscapular, suprailiac, and mid‐thigh skinfold thicknesses (P ≤ 0.01) and in hip, thigh, and calf circumferences (P ≤ 0.01) between trimesters 2 and 3. Women who gave birth to both normal birth weight (NBW) and LBW infants showed significant increases in weight (P < 0.001 and P = 0.02, respectively), but only women who had NBW infants showed significant increases in the suprailiac skinfold and hip circumference (P < 0.001). In the third trimester, attained weight, skinfold thicknesses, and circumferences tended to be greater in women who had NBW infants. In general, this group of women gained less weight and had a greater incidence of LBW infants compared with women in developed countries, but changes in skinfold thicknesses over the course of pregnancy were similar compared with other studies. Am. J. Hum. Biol. 14:29–38, 2002. © 2002 Wiley‐Liss, Inc.
Comparison of peak muscle power between Brazilian and French girls
Authors: Nanci Maria França , Eric Doré , Mario Bedu , Emmanuel Van Praagh
Published: August 2002

This study examined the muscle power of Brazilian circumpubertal girls and extended the analysis to a cross‐cultural dimension. A total of 462 children, 123 Brazilian girls and 339 French girls, 9–18 years, participated in this investigation. Anthropometric data included body mass (BM), height, skinfold thicknesses, and estimated lean leg volume (LLV). All subjects completed a physical activity questionnaire. Cycling peak power was measured including the flywheel inertia of the device (CPPi). Brazilian girls self‐assessed their maturation using pubic hair development. CPPi and optimal velocity (vopt = velocity at CPPi) increased with stages of puberty. A multiple stepwise regression with anthropometric variables as explanatory factors showed only LLV and age explaining the variance of CPPi (R2 = 0.40, P < 0.001). Therefore, 60% of the variance of CPPi in Brazilian girls was related to undetermined qualitative individual factors, which may be related to cycling skill. Even when normalized for anthropometric variables, the anaerobic performance (CPPi and vopt) of Brazilian girls was significantly lower than a cohort of French girls. The latter demonstrated a high participation in sport and training activities, while 50% of the Brazilian girls had only physical education classes in the form of regular physical activity. Moreover, most of the Brazilian girls demonstrated an ineffective sprint cycling skill. The data suggest that motor learning is an important issue in muscle power assessment and might, therefore, partially explain peak power differences in Brazilian compared with French girls. Am. J. Hum. Biol. 14:364–371, 2002. © 2002 Wiley‐Liss, Inc.
Effects of age, ethnicity and menopause on ambulatory blood pressure: Japanese‐American and Caucasian school teachers in Hawaii
Authors: Brown Daniel E. , Leidy Sievert Lynnette , Aki Sue L. , Mills Phoebe S. , Etrata Michaelyn B. , Paopao Rena N.K. , James Gary D.
Published: August 2002

Ambulatory blood pressure (BP) measurements of 120 female teachers of Japanese‐American or Caucasian ethnicity working in public schools located in Hilo, Hawaii, were recorded. BP was measured at 15‐min intervals during waking hours and 30‐min intervals during sleep over a 24‐hr period that included a full work day. These measurements were averaged during three daily settings: at work, at home while awake (“home”), and during sleep. ANCOVAs using ethnicity as a predictor variable of BP, with age and the body mass index (BMI) as covariates, show a significant interaction effect between age and ethnicity in some daily settings. Among Japanese‐Americans partial correlations between age and systolic BP controlling for the BMI are significant in these settings, while among Caucasians none of the correlations are significant. Menopausal status is not significantly related to BP when age is controlled in analyses. There was no significant ethnic difference in number of symptoms reported, including frequency of “hot flushes/flashes,” within the past two weeks. Those who reported hot flushes had significantly elevated BP in waking settings but not during sleep. The greater increase in BP with age in Japanese‐Americans may be related to their elevated risk for development of hypertension. The lack of a significant relationship between menopausal status and BP may be due to the high rate of usage of hormonal replacement therapy in this sample, as well as an unusually high rate of hysterectomy. Am. J. Hum. Biol. 13:486–493, 2001. © 2001 Wiley‐Liss, Inc.
Occurrence of farmer's lung disease is relevant to meteorological conditions: A 20‐year follow‐up field survey analysis
Authors: Takahashi Toru , Ohtsuka Yoshinori , Munakata Mitsuru , Nasuhara Yasuyuki , Kamachi‐Satoh Atsuko , Homma Yukihiko , Kawakami Yoshikazu
Published: August 2002

Background

A field survey on farmer's lung disease (FLD) in a dairy farming community in the northernmost district of Japan has been in progress since 1978.

Methods

The correlation between the number of FLD occurrences year by year and dairy farming conditions and meteorological data were compared.

Results

Thirty‐four FLD cases had occurred in a 20 years period. Average number of days below freezing during the harvest season the year prior to FLD occurrence were significantly smaller than other years (2.1 ± 0.7 [SE] days, 4.6 ± 0.7 days, P < 0.05, respectively). Average annual sum of the sunlight hours in the years before the years with FLD occurrence was significantly smaller than those without FLD occurrence (1457.1 ± 114.0 hr, 1811.3 ± 97.7 hr, P < 0.05, respectively) and was also significantly smaller for the sunlight hours during a harvest season (821.9 ± 60.2 hr, 1023.2 ± 52.7 hr, P < 0.05, respectively).

Conclusions

Temperature and sunlight hours closely associated with the FLD occurrence. Am. J. Ind. Med. 41:506–513, 2002. © 2002 Wiley‐Liss, Inc.
Hospitalization experiences of U.S. servicemembers before, during, and after participation in peacekeeping operations in Bosnia–Herzegovina*†
Authors: Brundage John F. , Kohlhase Kimmie F. , Gambel Jeffrey M.
Published: August 2002

Background

There are relationships among morbidity experiences before, during, and after participation in overseas military operations.

Methods

U.S. servicemembers who deployed to Bosnia–Herzegovina during a 4‐year period were classified based on their last hospitalizations prior to deploying. Hospitalization rates during and following deployment were calculated in relation to the timing and causes of pre‐deployment hospitalizations.

Results

Deployers ever hospitalized pre‐deployment were 120% and 50% more likely to be hospitalized during and following deployment, respectively. For nearly every category of diagnoses, hospitalization rates during and following deployment were highest among those hospitalized for the same category, intermediate among those hospitalized for other categories, and lowest among those not hospitalized prior to deploying. Deployers hospitalized within 1 month, 2–3 months, or > 3 months of deploying were 3.8, 2.6, and 1.4‐times more likely to be hospitalized during deployment.

Conclusions

The nature and recency of prior hospitalizations significantly determine during and post‐deployment hospitalization risks. Am. J. Ind. Med. 41:279–284, 2002. Published 2002 Wiley‐Liss, Inc.
Exposure to endosulfan in farmers: Two case studies
Authors: Brandt Victoria A. , Moon Sam , Ehlers Janet , Methner Mark M. , Struttmann Tim
Published: August 2002

Background

Endosulfan is not a restricted use organochlorine insecticide and is currently under re‐registration review. In 1993, one confirmed case and one possible case of endosulfan poisoning in agricultural workers occurred in two southeastern states.

Methods

Two cases of suspected endosulfan poisoning were investigated utilizing record reviews, blood samples, a site visit, and clothing analysis.

Results

Case 1 was fatal; Case 2 resulted in permanent neurological impairment. Additionally, Case 1 mixed and applied two less toxic pesticides, acephate and maleic hydrazide to tobacco plants. Both farm owners had ample opportunity for endosulfan exposure while mixing concentrated endosulfan with water and applying the solution to tobacco with boom sprayers pulled by tractors.

Conclusions

Estimates of the absorbed dose of endosulfan were not available because methods to determine actual personal exposure that would be found in fat or tissue samples were not used. Health and safety issues associated with endosulfan require a closer examination. A cooperative multi‐disciplinary approach to providing timely accurate education is needed to prevent pesticide poisonings. Am. J. Ind. Med. 39:643–649, 2001. © 2001 Wiley‐Liss, Inc.
Alzheimer disease is not associated with polymorphisms in the angiotensinogen and renin genes
Authors: Taylor Alison , Ezquerra Mario , Bagri Gurjog , Yip Agustin , Goumidi Louisa , Cottel Dominique , Easton Douglas , Evans John Grimley , Xuereb John , Cairns Nigel J. , Amouyel Philippe , Chartier‐Harlin Marie‐Christine , Brayne Carol , Rubinsztein David C.
Published: August 2002

Hypertension has been implicated as a risk factor for Alzheimer disease (AD) and dementia in epidemiological studies of humans. It is thus possible that there are common genetic determinants for hypertension and AD. Epidemiological, clinical, and experimental data suggest that the renin‐angiotensin‐aldosterone system is a critical regulator of blood pressure. The presence of an MboI site in an RFLP in the renin gene and the Thr at the Met/Thr polymorphism at codon 235 (M235T) of the angiotensinogen gene have been reported to be associated with hypertension. These variants were studied in autopsy‐confirmed AD cases and matched controls from the U.K. While no association was detected with the renin polymorphism, a weak deleterious effect was observed in cases homozygous for the angiotensinogen Thr allele. However, this association was not observed in a French cohort of clinically diagnosed AD cases and controls, suggesting that the initial observation was a type I error. Thus, these polymorphisms are unlikely to be associated with AD risk. © 2001 Wiley‐Liss, Inc.
Documentary and artistic evidence for conjoined twins from Sixteenth Century England
Authors: Anderson T.
Published: August 2002

Our knowledge of disease in earlier Britain is largely based on the study of skeletal remains. However, a series of sixteenth century illustrative ballads provides the first proof for conjoined twins from late medieval England. The dearth of archaeological cases may be due to lack of definite skeletal changes or as a result of the remains being denied burial within consecrated ground. Other cases may exist, but documentary evidence is biased to the later medieval period, when such birth defects were recorded solely as a warning against immorality. The famous Biddenden Maids, no doubt, are remembered because of their association with a bequest of land and distribution to the poor. © 2002 Wiley‐Liss, Inc.
Mutation analysis of synapsin III gene in schizophrenia
Authors: Tsai Ming‐Ta , Hung Chao‐Chun , Tsai Chan‐Yen , Liu Mei‐Ying , Su Yi‐Chieh , Chen Yun‐Hsiang , Hsiao Kwang‐Jen , Chen Chia‐Hsiang
Published: August 2002

Synapsin III is a new synapsin family gene with the putative function of synaptogenesis regulation and neurotransmitter release in the brain. The gene was mapped to 22q12‐q13, a schizophrenia susceptible region gene as suggested by several linkage studies. Hence, the synapsin III gene is considered a candidate gene of schizophrenia. We systematically sequenced the protein coding and 5′‐promoter regions of the synapsin III gene to look for mutations in 62 Han Chinese schizophrenic patients from Taiwan with positive family history. Further case‐control association study was performed among 163 patients and 151 controls using the genetic polymorphic markers identified from these 62 patients. Three single nucleotide polymorphisms (SNPs) were identified: g.‐631C > G and g.‐196G > A at 5′‐promoter region, and g.69G > A at exon 1. Besides, no other mutations were identified in these patients. The g.69G > A polymorphism does not alter the amino acid threonine at codon 23 (ACG > ACA). Further case‐control association studies also did not find significant differences of genotype or allele frequency distributions of these three polymorphisms between 163 patients and 151 non‐psychotic comparison individuals. Hence, our data are not in favor of a large effect of synapsin III gene in the pathogenesis of schizophrenia. © 2001 Wiley‐Liss, Inc.
Molecular analysis, mutation screening, and association study of adenylate cyclase type 9 gene (ADCY9) in mood disorders
Authors: Toyota Tomoko , Hattori Eiji , Meerabux Joanne , Yamada Kazuo , Saito Koji , Shibuya Haruo , Nankai Masahiro , Yoshikawa Takeo
Published: August 2002

Chromosome 16p13 has been shown to display modest linkage signals for mood disorders in a number of studies. An interesting candidate gene in this region is the adenylate cyclase (AC) type 9 gene (ADCY9). ACs are critical in neuronal signaling, and perturbation of brain AC activity has been reported in mood disorder postmortem brains. ACs may also act as targets of antidepressants. Two distinct length transcripts for the ADCY9 gene have been reported, but molecular mechanisms are unknown. To investigate the potential role of ADCY9 in mood disorders, we clarified alternative poly(A) sites for the two mRNA species, delineated the exon‐intron structure, and screened the gene for genetic variants. The two transcripts encoded by ADCY9 shared the first 10 exons, but exon 11 was shorter in one of the mRNA species. Seven single nucleotide polymorphisms, including a missense mutation and one polymorphic microsatellite repeat in the 3′‐UTR, were identified. However, a case‐control study using the missense polymorphism, 2316A > G (Ile772Met), and the tetranucleotide repeat (TTTA)n showed no significant association with mood disorders in Japanese samples. The DNA polymorphisms detected in this study can be tested in other ethnic samples and/or other psychiatric diseases. © 2002 Wiley‐Liss, Inc.
Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation
Authors: Mégarbané André , Bejjani Bassem A. , Shaffer Lisa G. , Jambart Sélim , Souraty Noelle , Kashork Catherine D. , Le Merrer Martine
Published: August 2002

Monozygotic twin brothers are described who share clinical features which include: moderate mental retardation, short stature, macrocephaly, frontal bossing, ptosis, low‐set ears, brachydactyly, 5th fingers clinodactyly, single palmar creases, cryptorchidism, and prelingual sensorineural deafness. One of the twins presented with mild cardiac dilatation and died at age 3½ from cardiac arrest during an episode of acute respiratory infection. While chromosome analyses performed for both twins on peripheral blood showed apparently normal karyotypes, screening for all telomeric regions on the surviving propositus revealed a combination of partial 6p trisomy and partial 11q monosomy. A balanced reciprocal translocation was found in the father. The phenotype of the twins is most likely related to this cryptic chromosomal rearrangement. The fact that the phenotype in this family partially overlaps with some previously reported phenotypes is discussed. © 2002 Wiley‐Liss, Inc.
Patellar dislocation in Kabuki syndrome
Authors: Kurosawa Kenji , Kawame Hiroshi , Ochiai Yukikatsu , Nakashima Masanosuke , Tohma Takaya , Ohashi Hirofumi
Published: August 2002

We describe four individuals (two females and two males) with Kabuki syndrome and recurrent dislocation of the patella. The age of diagnosis of patellar dislocation ranged from 11 to 23 years. One individual underwent excision of the free fragment and transfer of the tibial tuberosity with good outcome. Two required patellar brace for instability. Characteristics of individuals with the syndrome at a high risk of patellar dislocation include female, adolescence or young adulthood, joint laxity, and obesity. © 2002 Wiley‐Liss, Inc.
The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders
Authors: Bolton Patrick Farrar , Dennis N.R. , Browne C.E. , Thomas N.S. , Veltman M.W.M. , Thompson R.J. , Jacobs P.
Published: August 2002

This study investigated the phenotypic manifestations of interstitial duplications of chromosome 15 that involve the Prader‐Willi/Angelman syndrome critical region (PWACR). Twenty‐one affected individuals from six families were evaluated in detail, using standardized and semi‐standardized measures of intelligence, psychopathology, and physical anomalies. Special attention was placed on determining the prevalence of autism spectrum disorders as well as the relationship between the parental origin of the duplication and the phenotypic effects. Assessments of the affected individuals were compared with evaluations of the unaffected relatives from the same families. Results indicated that duplications in the region were associated with variable degrees of intellectual impairments and motor coordination problems. Four of the subjects received a diagnosis of pervasive developmental disorder. Three of these cases were probands and only one met criteria for classic autism. There was very little evidence of the duplication cosegregating with autism spectrum disorder diagnosis. Paternally inherited duplications were significantly less likely to give rise to phenotypic effects. The findings indicate that duplications in the PWACR give rise to developmental delay but not necessarily autism spectrum disorders. They also suggest that phenotypic expression is dependent on the parental origin of the duplication and implicate maternally active genes in the pathogenesis of the developmental impairments. Further research will be required to clarify the range and basis of the phenotypic manifestations. © 2001 Wiley‐Liss, Inc.
Toward developing a genome‐wide microsatellite marker set for linkage analysis in the rhesus macaque (Macaca mulatta): Identification of 76 polymorphic markers
Authors: Hadfield Ruth M. , Pullen Jan G. , Davies Kay F. , Wolfensohn Sarah E. , Kemnitz Joseph W. , Weeks Daniel E. , Bennett Simon T. , Kennedy Stephen H.
Published: August 2002

Linkage analysis can be problematic in humans because of the lack of large, multigenerational pedigrees and the difficulties in obtaining phenotypic data on all family members. In contrast, large, captive colonies of rhesus macaque are a potentially valuable resource for linkage studies because detailed phenotypic and genealogical data are kept, inbreeding is avoided, and DNA samples can usually be obtained. Microsatellite marker sets for genome‐wide screening are available in a number of species, but not for the rhesus macaque. We tested primers to 400 human microsatellite markers from a genome‐wide mapping set using DNA from nine unrelated female rhesus macaques. We found that 76 (19%) of the primers amplified a polymorphic product using the standard protocols for human DNA. The average heterozygosity of the markers in humans was 0.80, compared to 0.65 in the rhesus macaques. This study provides preliminary data, which could be used toward the development of a linkage mapping set in this species. There would be a need, however, to confirm the Mendelian inheritance of the markers. Am. J. Primatol. 54:223–231, 2001. © 2001 Wiley‐Liss, Inc.
Partial characterization of the CD45 phosphatase cDNA in the owl monkey (Aotus vociferans)
Authors: Montoya Gladis E. , Vernot Jean‐Paul , Patarroyo Manuel E.
Published: August 2002

CD45 is a protein tyrosine phosphatase implicated in T and B cell activation, differentiation, and development. It dephosphorylates specific tyrosine residues on its substrates, principally on the Src‐family of protein tyrosine kinases, thus regulating T cell or B cell activation during the immune response. In this study, we present the partial CD45 nucleotide and deduced amino‐acid sequences for the owl monkey (Aotus vociferens). There is 97% identity in the nucleotide sequence and 96% in the amino acid sequence with the human counterpart. Aotus CD45 undergoes alternative splicing on the extracelular N‐terminal tail, and has several conserved features characteristic of other species. This includes the two Tyr phosphatase domains and some residues and/or motifs involved in docking of signaling molecules, intramolecular interactions, and CD45 activity and activity regulation (YINAS, GXGXXG, WPD, and YWP motifs, and the Cys residues). This suggests that the Aotus CD45 molecule is a functional enzyme and that initial lymphocyte activation in Aotus monkeys and humans is very similar. Together with previous reports from our laboratory, this work supports the contention that immune responses in Aotus are similar to those of humans, and supports the strategy for using this experimental model for studies on activation of T lymphocytes in response to specific antigens. Am. J. Primatol. 57:1–11, 2002. © 2002 Wiley‐Liss, Inc.
Measurement of urinary and fecal steroid metabolites during the ovarian cycle in captive and wild Japanese macaques, Macaca fuscata
Authors: Fujita Shiho , Mitsunaga Fusako , Sugiura Hideki , Shimizu Keiko
Published: August 2002

We measured the concentration of steroid hormones from urine, feces, and blood samples of two captive Japanese macaques, Macaca fuscata, during nonconceptive ovarian cycles to compare the patterns of the excreted steroids with those of circulating steroids. Urine and feces were analyzed for estrone conjugates (E1C) and pregnanediol‐3‐glucronide (PdG) using enzyme immunoassays (EIAs), while plasma was analyzed for estradiol‐17β(E2), progesterone (P), and luteinizing hormone (LH) using radioimmunoassays (RIAs). Urinary and fecal E1C and PdG levels were approximately parallel to plasma E2 and P levels, respectively. The E1C profiles of daily urinary and fecal samples revealed a midcycle peak, followed by a sustained PdG increase lasting up to two weeks from the E1C peak. A fecal E1C peak was one day later than the urinary E1C peak. One of the captive females exhibited a discrete plasma LH peak, one indicator that ovulation has occurred, on the day following the urinary E1C peak, i.e., the same day of fecal E1C peak. We measured excreted steroids in nine wild females and determined the timing of ovulation by comparing fecal steroid profiles to those obtained in captive monkeys. Data from wild females indicated that eight of nine females conceived during their first ovulatory cycle of the sampling period, whereas the remaining female failed to conceive during the sampling period even though she ovulated. In the eight females that conceived, E1C increased again following the detected or estimated E1C peak, with levels comparable to the preovulatory peak levels, and sustained elevations of PdG for over 40 days. These data illustrate that the urinary and fecal profiles of ovarian steroid excretion obtained through the application of these noninvasive techniques provide an accurate approach for monitoring conceptive and nonconceptive ovarian cycle in captive and free‐living Japanese macaques. Am. J. Primatol. 53:167–176, 2001. © 2001 Wiley‐Liss, Inc.
Paleoepidemiolgical patterns of trauma in a prehistoric population from central California
Authors: Jurmain Robert
Published: August 2002

Skeletal trauma was investigated in a large collection of human remains from central California (N = 162 aged and sexed adults). Lesions investigated included cranial and long bone fractures, projectile wounds, and dislocation. Long bone fractures were found in 10.5% of individuals; overall, incidence by element was 2.3%. In addition, cranial injuries were found in 4.4% of complete adult crania. Projectile wounds were seen unambiguously in four individuals (with embedded obsidian fragments) and strongly suggested in two other individuals with partially healed lesions. Finally, one case of traumatic hip dislocation was also observed. In both incidence and patterning of injuries, this population is similar to other archeological groups from California. This evidence further supports earlier reports indicating that interpersonal aggression was quite common in prehistoric California. Am J Phys Anthropol 115:13–23, 2001. © 2001 Wiley‐Liss, Inc.
Absence of regional affinities of Neandertal DNA with living humans does not reject multiregional evolution
Authors: Relethford John H.
Published: August 2002

The recent extraction of mitochondrial DNA sequences from three European Neandertal fossils has led many to the conclusion that ancient DNA analysis supports the African replacement model of modern human origins and rejects models of multiregional evolution that propose some Neandertal ancestry in living humans. This conclusion is based, in part, on the lack of regional affinity of Neandertal DNA to that from living Europeans. Consideration of migration matrix models shows that this conclusion is premature, since under a model of interregional gene flow we expect to see similar levels of Neandertal ancestry in all contemporary regions, and living Europeans should not necessarily show closer affinity. The absence of regional affinity in Neandertal DNA does not distinguish between replacement and multiregional models. Am J Phys Anthropol 115:95–98, 2001. © 2001 Wiley‐Liss, Inc.
Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis
Authors: Lemmers Richard J. L. F. , De Kievit Peggy , van geel Michel , van der Wielen Michiel J.R. , Bakker Egbert , Padberg George W. , Frants Rune R. , Van Der Maarel Silvère M.
Published: August 2002

Facioscapulohumeral muscular dystrophy is caused by partial deletion of the D4Z4 repeat array on chromosome 4q35. Genetic diagnosis is based on sizing of this repeat array, which is complicated by cross‐hybridization of a homologous polymorphic repeat array on chromosome 10 and by the frequent exchanges between these chromosomal regions. The restriction enzyme XapI optimizes the diagnosis of facioscapulohumeral muscular dystrophy by uniquely digesting 4‐derived repeat units and leaving 10‐derived repeat units undigested, thus complementing BlnI, which uniquely digests 10‐derived repeat units. A triple analysis with EcoRI, EcoRI/BlnI, and XapI unequivocally allows characterization of each of the four alleles, whether homogeneous or hybrid. This is particularly useful in the case of identical sized 4‐derived and 10‐derived arrays, in situations of suspected facioscapulohumeral muscular dystrophy with nonstandard allele configurations, and for assignment of hybrid fragments to their original alleles.
German Cancer Society Neuro‐Oncology Working Group NOA‐03 multicenter trial of single‐agent high‐dose methotrexate for primary central nervous system lymphoma
Authors: Herrlinger Ulrich , Schabet Martin , Brugger Wolfram , Kortmann Rolf‐Dieter , Küker Wilhelm , Deckert Martina , Engel Corinna , Schmeck‐Lindenau Hans‐Jürgen , Mergenthaler Hans‐Günther , Krauseneck Peter , Benöhr Christian , Meisner Christoph , Wiestler Otmar D. , Dichgans Johannes , Kanz Lothar , Bamberg Michael , Weller Michael
Published: August 2002

The prospective multicenter NOA‐03 trial, conducted by the Neuro‐Oncology Working Group (NOA) of the German Cancer Society, was initiated to define the feasibility and efficacy of single‐agent high‐dose methotrexate therapy without concomitant radiotherapy in immunocompetent patients with primary central nervous system lymphoma. Thirty‐seven patients (median age, 60 years) received 179 biweekly courses of 8g/m2 methotrexate. Response was assessed after 3 and 6 courses. We had planned to enter 105 patients into the trial. Since fewer than the projected 18 of 37 patients achieved a complete response after an intermediate analysis, the trial was closed. In intention‐to‐treat analysis, 11 of 37 patients (29.7%) achieved complete response, whereas 14 of 37 patients (37.8%) were found to have progressive disease. The median relapse‐free survival among complete response patients was 13.7 months. Multivariate logistic regression analysis revealed that corticosteroid application during the first methotrexate course was associated with complete response. The regimen was well tolerated, but, unlike previously reported results, the activity of high‐dose methotrexate was only moderate.
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter
Authors: van der Knaap Marjo S. , Leegwater Peter A. J. , Könst Andrea A.M. , Visser Allerdien , Naidu Sakkubai , Oudejans Cees B.M. , Schutgens Ruud B.H. , Pronk Jan C.
Published: August 2002

Leukoencephalopathy with vanishing white matter is a recently defined autosomal recessive disorder. The course is chronic progressive with additional episodes of rapid deterioration, provoked by fever and minor head trauma. A previous study showed that mutations in the genes encoding the ε‐ or the β‐subunit of the eukaryotic translation initiation factor eIF2B, a complex consisting of five subunits, cause the disease in most patients. Seven unsolved patients remained. The unsolved patients were investigated by mutation analysis of the genes encoding the α‐, γ‐, and δ‐subunit of eIF2B and the gene encoding the α‐subunit of eIF2, because phosphorylation of this latter subunit regulates eIF2B activity. Mutations were found in the genes encoding the α‐ (1 patient), γ‐ (2 patients), and δ‐subunits (2 patients) of eIF2B, but no mutations were found in the gene encoding the α‐subunit of eIF2. In 2, both less typical patients, no mutations were found. Mutations in all five genes eIF2B subunit genes can cause VWM. eIF2B is essential for the initiation of translation of RNA into protein and is involved in regulation of the process, especially under circumstances of stress, such as fever. A defect in eIF2B may explain the sensitivity to stress factors in vanishing white matter patients.
Hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY pure gonadal dysgenesis: A new clinical entity
Authors: Sugie Kazuma , Futamura Naonobu , Suzumura Akio , Tate Genshu , Umehara Fujio
Published: August 2002

This case report is of a patient with 46XY pure gonadal dysgenesis, who presented with chronic progressive motor and sensory polyneuropathy. The sural nerve biopsy exhibited minifascicle formations accompanied by a marked decrease in myelinated fibers. This is the first report of polyneuropathy with minifascicle formations in 46XY pure gonadal dysgenesis. Because a similar polyneuropathy was recently reported in a case with 46XY partial gonadal dysgenesis, it is possible that these cases represent a new type of hereditary motor and sensory neuropathy associated with gonadal dysgenesis.
Striatal monoaminergic terminals in Lewy body and Alzheimer's dementias
Authors: Suzuki Masahiko , Desmond Timothy J. , Albin Roger L. , Frey Kirk A.
Published: August 2002

Vesicular monoamine transporter type 2 and benzodiazepine binding site expressions were examined with quantitative autoradiography in postmortem striata from 19 patients with dementia with Lewy bodies, seven patients with dementia with Lewy bodies and Alzheimer's disease, 12 patients with Alzheimer's disease, and eight neurologically normal subjects. Striatal vesicular monoamine transporter type 2 expression in dementia with Lewy bodies and in dementia with Lewy bodies plus Alzheimer's disease was reduced significantly, indicating degeneration of nigrostriatal projections. Striatal benzodiazepine binding site expression was unchanged, indicating preserved intrinsic striatal neuropil. Vesicular monoamine transporter type 2 and benzodiazepine binding site expressions were each preserved in Alzheimer's disease striatum. We conclude that dementia with Lewy bodies may be distinguished from Alzheimer's disease by postmortem examination or by future in vivo measurements of the striatal vesicular monoamine transporter type 2.
Diagnosis of X‐linked myotubular myopathy by detection of myotubularin
Authors: Laporte Jocelyn , Kress Wolfram , Mandel Jean‐Louis
Published: August 2002

Mutations in the MTM1 gene cause X‐linked recessive myotubular myopathy (XLMTM; MIM310400). Myotubularin, the implicated protein, is a phosphoinositide phosphatase that belongs to a large protein family conserved through evolution that also includes the antiphosphatase Sbf1 and the protein hMTMR2 mutated in Charcot‐Marie‐Tooth type 4B. Myotubularin is detectable in a variety of cell lines by immunoprecipitation followed by Western blotting. We screened 29 independant patients with XLMTM phenotype and 4 with centronuclear myopathy. 87% (21/24) of patients with known MTM1 mutations showed abnormal myotubularin levels, including some with missense mutations. Moreover, myotubularin was also undetectable in a patient for whom no mutation could be identified by SSCP screening. The centronuclear cases investigated have a normal level of protein, suggesting that the centronuclear form is not the result of a decrease in myotubularin level. Thus, immunoprecipitation of myotubularin from cultured cells represents a rapid and helpful method for classifying those cases where no mutation was found. On the other hand, the amount of expression may be of diagnostic value for disease course in patients with a mutation.