bluuebunny/crossref_metadata_2025 huggingface dataset:
New data on the genetic structure of the population of Sicily: Analysis of the Alia population (Palermo, Italy)
Authors: Ghiani M.E. , Calò M.C. , Autuori L. , Mameli G.E. , Succa V. , Vacca L. , Cerutti N. , Rabino Massa E. , Vona G.
Published: August 2002

The distribution of 13 genetic markers (AB0, Rh, ACP, ADA, AK, ESD, GLO, PGD, PGMl, SOD, GC, TF, and PI) were studied in a sample from the Alia population of Sicily, Italy. A total of 34 alleles were detected. In comparison with other Sicilian populations, Alia always appeared genetically distinctive, either in terms of overall genetic diversity or for the number of unique alleles present. The results are consistent with previous studies that show no genetic uniformity within the island. More specifically, the data support the genetic divergence of the eastern and western halves of the island and highlight genetic boundaries that run through Sicily and divide it into three distinct areas. Am. J. Hum. Biol. 14:289–299, 2002. © 2002 Wiley‐Liss, Inc.
Test‐retest reliability of the Upper Extremity Questionnaire among keyboard operators*†
Authors: Salerno Deborah F. , Franzblau Alfred , Armstrong Thomas J. , Werner Robert A. , Becker Mark P.
Published: August 2002

Background

Questionnaires are often used in research among workers although few have been tested in the working population. The Upper Extremity Questionnaire is a self‐administered questionnaire designed for epidemiological studies and tested among workers. This study assessed reliability of the instrument.

Methods

A two‐part assessment was conducted among 138 keyboard operators as part of a large medical survey. Test‐retest reliability was analyzed using the kappa statistic, paired t‐test, and intraclass correlation coefficient (ICC). Logistic regression models were used to test the effect of demographic and work‐related factors on reliability.

Results

The average respondent was a white woman, age 35 years, with some college education, in permanent employment with tenure of 1.4 years. Overall, reports of symptoms were stable from Round 1 to 2. Most kappa values for symptom reports were between 0.60 and 0.89. Kappa values for right and left hand diagrams were 0.57 and 0.28, respectively. Among psychosocial items, Perceived Stress and Job Dissatisfaction Scales were most reliable (ICC = 0.88); co‐worker support was least reliable (ICC = 0.44).

Conclusion

Reliability of items on the Upper Extremity Questionnaire were generally good to excellent. Reports of symptom severity and interference with work were less stable. Demographic and work‐related factors were not statistically significant in modeling the variation in reliability. Repeated use of the questionnaire with similar results suggests findings are applicable to a larger working population. Am. J. Ind. Med. 40:655–666, 2001. © 2001 Wiley‐Liss, Inc
Assessment of upper extremity role functioning in students
Authors: Katz Jeffrey N. , Amick Benjamin C. , Hupert Nathaniel , Cortes Marissa C. , Fossel Anne H. , Robertson Michelle , Coley Christopher M.
Published: August 2002

Background

Upper extremity symptoms associated with use of computers and other upper extremity activities are common in students. Research on these disorders requires psychometrically sound measures of health‐related student role function; no such measure is available currently.

Methods

Based upon input from students and clinicians, we developed a 10‐item scale to measure student health‐related role function. The measure was administered as part of a survey of 193 undergraduates at one university. A follow‐up survey was administered 1 month later. The student health‐related role function questionnaire was assessed for internal consistency, ceiling effects, convergent and discriminant validity, and responsiveness to self‐reported change in functional status.

Results

Eighty‐two percent of students who were given the survey completed it and 65% completed a follow‐up survey 1 month later. The new measure was reliable (Cronbach's α 0.87). Forty‐six percent of respondents reported “no difficulty” on all items of the health‐related student role function measure while 64% reported “no difficulty” on all items of a generic upper extremity functional status measure. This finding indicates that the new measure was better able to detect functional limitations; it had a less prominent ceiling effect. The new measure had moderately high correlations with measures of symptom severity and pain, documenting convergent validity. It distinguished students who utilized clinician services, medications, or academic accommodation from students who did not utilize these resources, documenting discriminant validity. The measure was responsive to self‐perceived change, as demonstrated by a highly significant association (P < 0.0001) between changes in score over a 1‐month follow‐up and students' perceptions of whether they had improved in functional abilities after the month, deteriorated or remained stable.

Conclusions

The student health‐related role functioning measure is reliable, valid and responsive to change. It is an appropriate measure for research on upper extremity symptoms in students. Am. J. Ind. Med. 41:19–26, 2002. © 2002 Wiley‐Liss, Inc.
Pesticide use and pesticide‐related symptoms among black farmers in the Agricultural Health Study*†
Authors: Martin Stephen A. , Sandler Dale P. , Harlow Siobán D. , Shore David L. , Rowland Andrew S. , Alavanja Michael C.R.
Published: August 2002

Background

Health effects of pesticides have not been well studied in black farmers. We describe agricultural practices and pesticide‐related symptoms in North Carolina black and white farmers participating in the Agricultural Health Study.

Methods

Self‐administered questionnaires were completed by 891 black and 11,909 white farmers licensed to apply restricted pesticides. Regression models were used to compare characteristics by race.

Results

Black farmers reported lower lifetime pesticide use, less use of each class of pesticides (e.g., herbicides, insecticides), less use of high exposure application methods, and fewer pesticide‐related symptoms such as headaches or dizziness, skin irritation, chest discomfort and feeling nervous or depressed than did white farmers.

Conclusions

Differences between black and white farmers may be explained by farm characteristics or economics. Despite lower use of pesticides, black farmers may have other work practices that affect exposure and risk. Am. J. Ind. Med. 41:202–209, 2002. Published 2002 Wiley‐Liss, Inc.
Role of work permits in teen workers' experiences
Authors: Delp Linda , Runyan Carol W. , Brown Marianne , Bowling J. Michael , Jahan Shamim Ara
Published: August 2002

Background

Work permits are required for working teenagers under 18 in 41 US states, but little is known about the work experience of those with work permits compared with those without such permits. This study examines job hazards, training, and knowledge of child labor laws reported by students in a predominantly Latino high school in Los Angeles and compares the responses of those who obtained work permits with those who did not.

Methods

Student responses to a 60 item questionnaire were supplemented with information from focus groups and a survey of work permits issued by the school.

Results

Students without work permits were more likely to perform hazardous tasks and to use certain types of dangerous equipment and less likely to receive health and safety training than those with permits.

Conclusion

Possible explanations for the findings and suggested areas in need of policy change or research are considered. Am. J. Ind. Med. 41:477–482, 2002. © 2002 Wiley‐Liss, Inc.
Hypersensitivity pneumonitis in a metal‐working environment
Authors: Hodgson Michael J. , Bracker Anne , Yang Chin , Storey Eileen , Jarvis Bruce J. , Milton Donald , Lummus Zana , Bernstein David , Cole Solon
Published: August 2002

Background

An outbreak of lung disease among workers in a metal‐working plant included 16 biopsy‐confirmed cases of hypersensitivity pneumonitis and additional patients with asthma, bronchiolitis and emphysema, usual interstitial pneumonitis, and sarcoidosis.

Study design

Clinical examination of patients; cross‐sectional questionnaire survey of the outbreak plant and two control plant areas, one with and one without MWF exposures, in a separate facility; industrial hygiene survey with laboratory characterization of microbial flora; and immunological investigation.

Methods

Patients with suspected hypersensitivity pneumonitis underwent a clinical examination including detailed lung function, imaging, and tissue studies. A plant walk‐through identified metal‐working processes, microbial aerosols, and work practices. Microbial characteristics of the three microbial aerosol‐producing processes were characterized. Antibodies to those agents were determined in patient sera. A questionnaire survey was conducted in the case plant and in two areas of a control plant, one with and one without metal‐working fluids exposure.

Results

Thirty‐nine (79.6%) patients described symptoms consistent with work‐related lung disease, eight received other diagnoses, and two did not complete their examinations. Sixteen patients had hypersensitivity pneumonitis confirmed on biopsy. Mean decrements in lung forced expiratory volume in 1 s and force vital capacity from before to after work were similar in the 16 biopsy‐confirmed cases of hypersensitivity pneumonitis ( − 6.3%; − 7.2%) and the 19 symptomatic patients without biopsies ( − 11.2%, − 10.1%). Symptoms were more common in the case plant than in a non‐MWF control plant area. Three sources of water‐based aerosols were identified that grew similar microbial flora. Although machining increased airborne bacterial levels, the increase was not related to the concentration of viable bacteria in the sumps. Antibody testing did not identify a specific single organisms. Endotoxin levels were similar in case and MWF control plant.

Conclusions

Lung disease in environments with water‐based aerosols may be more common than usually recognized. Patients with HP often present with only subtle abnormalities and may be missed if multiple clinical abnormalities are required to document disease. Am. J. Ind. Med. 39:616–628, 2001. © 2001 Wiley‐Liss, Inc.
Distinctive enchondromatosis with spine abnormality, regressive lesions, short stature, and coxa vara: Importance of long‐term follow‐up
Authors: Kozlowski K.S. , Masel J.
Published: August 2002

We report a girl with a unique type of enchondromatosis observed from birth to puberty. Radiographic abnormalities documented at the age of 14 months included distinctive spondylometaphyseal enchondromatous types of lesions with minimal involvement of the short tubular and flat bones. Follow‐up radiographic examinations documented progressive coxa vara and hypoplasia/dysplasia of the left ulna. At puberty, the short tubular bones appeared normal. There was marked regression of the flat bone, rib, and spinal lesions. This case shows the importance of long‐term observation of unclassified forms of skeletal dysplasia. © 2001 Wiley‐Liss, Inc.
New mental retardation syndrome associated with ocular colobomas, cleft palate, and genital, skeletal, and craniofacial abnormalities
Authors: Khalifa M.M. , Cappon S. , Soboleski D. , Armstrong D.
Published: August 2002

We describe three Canadian brothers of Cree origin, with a previously undescribed pattern of malformation including distinctive craniofacial abnormalities with triangular facies, hypertelorism, low‐set and posteriorly rotated ears, ocular colobomas, ptosis, brachycephaly with widely separated sutures, cleft soft palate, undescended testes, bifid scrotum and hypospadius, wide webbed neck, webbed fingers, pectus excavatum and hypersegmented sternum, and severe psychomotor retardation. The presence of normal brain imaging and physical growth distinguishes them from other syndromes with overlapping abnormalities. This is either an X‐linked or autosomal recessive condition. © 2001 Wiley‐Liss, Inc.
Preserved neurobehavioral abilities in Lujan‐Fryns syndrome
Authors: Donders Jacobus , Toriello Helga , van Doornik Steven
Published: August 2002

We present a patient with all the physical characteristics of Lujan‐Fryns syndrome, including Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies. Despite the presence of impaired mental abilities in many areas, this young man showed intact concrete problem‐solving skills under structured, interactive conditions. In addition, he did not demonstrate any of the psychiatric features that have often been reported with this syndrome. We conclude that Lujan‐Fryns syndrome can be associated with partial preservation of neurobehavioral abilities. © 2001 Wiley‐Liss, Inc.
Familial paraganglioma and gastric stromal sarcoma: A new syndrome distinct from the Carney triad
Authors: Carney J. Aidan , Stratakis Constantine A.
Published: August 2002

Paragangliomas may be inherited in an autosomal dominant manner either alone (as in PGL1, PGL2, and PGL3 syndromes) or as a component of a multiple tumor syndrome (as in von Hippel‐Lindau disease and neurofibromatosis type 1). In this article, we describe 12 patients (7 male and 5 female) with an average age of 23 years from five unrelated families that manifested paraganglioma and gastric stromal sarcoma; the tumors were inherited in an apparent autosomal dominant manner, with incomplete penetrance. Seven patients had paraganglioma, four had paraganglioma and gastric stromal sarcoma, and one had gastric stromal sarcoma. The paraganglioma was multicentric and the gastric stromal sarcoma multifocal. Because of the rarity of gastric stromal sarcoma and its multifocality, the young age of the patients, and the unlikelihood of coincidental co‐occurrence of paragangliomas and gastric stromal sarcomas, we suggest that a new syndrome exists with these two main components, a condition that is familial and distinct from the Carney triad. Published 2002 Wiley‐Liss, Inc.
Angiotensin converting enzyme gene insertion/deletion polymorphism: Case‐control association studies in schizophrenia, major affective disorder, and tardive dyskinesia and a family‐based association study in schizophrenia
Authors: Segman Ronnen H. , Shapira Yami , Modai Ilan , Hamdan Adnan , Zislin Joseph , Heresco‐Levy Uriel , Kanyas Kyra , Hirschmann Shmuel , Karni Osnat , Finkel Boris , Schlafman Michael , Lerner Arturo , Shapira Baruch , Macciardi Fabio , Lerer Bernard
Published: August 2002

Angiotensin converting enzyme (ACE) is a candidate gene for psychiatric disorders. We examined the frequency of a functional insertion/deletion (I/D) polymorphism in the 16th intron of the ACE gene (located on chromosome 17q23) in groups of patients with schizophrenia (n = 104 and 113), major depression (n = 55), and bipolar disorder (n = 87) compared to healthy control subjects (n = 87). There was no evidence for allelic or genotypic association of the polymorphism with any of the disorders or with tardive dyskinesia (TD) in patients with schizophrenia. In a sample of nuclear families (n = 61) made up of one or more patients with schizophrenia recruited with their parents, there was no evidence for biased transmission of ACE I/D alleles. Particularly in the case of schizophrenia, these findings do not support an association of the ACE I/D polymorphism with the phenotypes examined. © 2002 Wiley‐Liss, Inc.
Further clinical and sensorial delineation of Schinzel‐Giedion syndrome: Report of two cases
Authors: Minn David , Christmann Dominique , De Saint‐Martin Anne , Alembik Yves , Eliot Mylène , Mack Geneviève , Fischbach Michel , Flament Jacques , Veillon Francis , Dollfus Hélène
Published: August 2002

Schinzel‐Giedion syndrome is a rare multiple congenital malformation syndrome defined by an evocative midfacial retraction, kidney and urinary malformations and multiple skeletal abnormalities associated to a recently described neurodegenerative process. Two children with SGS are reported with identical clinical findings: megacalycosis, progressive neurodegeneration with infantile spasms and hypsarrhymtic activity. Ocular investigations revealed alacrimia and corneal hypoesthesia. Computed tomography of the temporal bone showed a tuning‐fork malformation of the stapes for both children. These features may contribute to further delineation of SGS as additional clinical criteria. © 2002 Wiley‐Liss, Inc.
Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)
Authors: Bodamer Olaf A.F. , Church Heather J. , Cooper Alan , Wraith J. Ed , Scott C. Ronald , Scaglia Fernando
Published: August 2002

A 20‐month‐old girl with developmental delay, dysmorphic features, horizontal supranuclear gaze palsy, retrocollis, and episodes of laryngospasm was diagnosed with variant neuronopathic Gaucher disease. The diagnosis was made enzymatically. Mutation analysis showed compound heterozygosity for D409H and a previously unreported mutation C16S. The presence of dysmorphic features, laryngospasm, absent cardiac findings, and the severe clinical phenotype distinguishes our case from other cases of variant neuronopathic Gaucher disease. We therefore propose to extend the spectrum of variant Gaucher disease. © 2002 Wiley‐Liss, Inc.
C7 complement deficiency in an Israeli Arab village
Authors: Behar Doron , Schlesinger Menachem , Halle David , Ben‐Ami Haim , Edoute Yehouda , Shahar Eduardo , Kasis Imad , Shihab Shihab , Elstein Deborah , Zimran Ari , Mandel Hanna
Published: August 2002

Deficiencies of terminal complement components, particularly the latter ones, are often detected because of increased susceptibility to Neisserial infections. Herein we document the first report of C7 deficiency among a highly inbred Arab population living in the lower Galilee region of Israel. Both biochemical and molecular analysis were performed on samples from infected survivors and parents of children who succumbed to Neisserial infections in a 4‐year period. Only the index case who suffered recurrent infections and a sibling who had not suffered an infection during the outbreak were found to be C7‐deficient. The mutation was found to be the one previously described to be prevalent among Israeli Jews of Moroccan ancestry (mutation G1135C). The implications of this finding are discussed in the context of family pedigree, the protective effect of complement deficiency, and the clinical outcome. © 2002 Wiley‐Liss, Inc.
Pearson marrow‐pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA
Authors: Krauch Gabriele , Wilichowski Ekkehard , Schmidt Klaus G. , Mayatepek Ertan
Published: August 2002

Pearson marrow‐pancreas syndrome is a usually fatal disorder that involves the hematopoietic system, exocrine pancreas, liver, kidneys, and often presents clinically with failure to thrive. We report a 5‐year‐old patient who developed, in addition to the typical features of Pearson syndrome, worsening cardiac function, mainly affecting the left ventricle. The latter finding is particularly interesting because cardiac involvement has not yet been regarded as a major feature of Pearson syndrome. The diagnosis was proved by the finding of so far undescribed pleioplasmatic rearrangement of mitochondrial (mt)DNA (loss of 5,630 bp, 70% deleted and duplicated mtDNA) in blood cells. Our report demonstrates that patients with Pearson syndrome may also have impaired cardiac function. Thus, Pearson syndrome should be considered in the differential diagnosis of patients with left ventricular dysfunction of unknown origin and other clinical findings suggestive of a mitochondrial disease. © 2002 Wiley‐Liss, Inc.
Caught in the trio trap? Potential selection bias inherent to association studies usings parent‐offspring trios
Authors: Schulze Thomas G. , Müller Daniel J. , Krauss Harald , Gross Magdalena , Bauer Irina , Fangerau‐Lefèvre Heiner , Illės Franciska , Ohlraun Stephanie , Fimmers Rolf , Cichon Sven , Held Tilo , Propping Peter , Nöthen Markus M. , Maier Wolfgang , Rietschel Marcella
Published: August 2002

During the last years, the validity of classic case control studies in psychiatric genetic research has been increasingly under question due to the risk of population stratification problems inherent to this type of association study. By consequence, the application of family‐based association studies using parent‐offspring trios has been strongly advocated. Recently, however, in a study comparing clinical characteristics between index patients from parent‐offspring trios and singleton patients with bipolar affective disorder, the question was raised whether a systematic neglect of case control association studies could lead to a selection bias of susceptibility genes. In a similar approach, we compared demographic and clinical characteristics of 122 singleton bipolar patients with those of 54 bipolar patients derived from parent‐offspring trios. The singleton patients did not only present with a higher age of onset, but also with a higher frequency of suicidal behavior and a higher familial loading for suicidality. These findings suggest that the genetic mechanism for disease might be different between trio‐based and classic case control samples, where patients are examined whose parents are not available for genetic studies. Thus, giving up case control designs for the sake of family‐based association studies could be at the risk of selecting against several genetically determined factors. © 2001 Wiley‐Liss, Inc.
Linkage analysis of schizophrenia to chromosome 15
Authors: Gejman Pablo V. , Sanders Alan R. , Badner Judith A. , Cao Qiuhe , Zhang Jing
Published: August 2002

We have mapped a sample of 68 families consisting of one or more affected sibling pairs with schizophrenia or schizoaffective disorder with 20 markers spanning all of chromosome 15 to investigate whether there is a locus on chromosome 15 that confers an increased susceptibility to schizophrenia using parametric and nonparametric linkage analyses. Allele sharing identical by descent and multipoint maximum likelihood score (MLS) statistics were employed. Results show excess allele sharing for multiple markers in 15q11.2–q25, a chromosomal region previously found linked to a decrease in the normal inhibition of the P50 auditory‐evoked response to the second of paired stimuli, a decrease associated with schizophrenia. Excess allele sharing was found for markers spanning about 48 cM in 15q11.2–q25 (D15S1002–D15S1023). The greatest single point allele sharing was found at D15S659 (62.6%). The multipoint MLS scores were greater than 1.0 in the 30–52 cM interval delimited by ACTC and D15S150, with a maximum value of 2.0 with GENEHUNTER PLUS near D15S1039. © 2001 Wiley‐Liss, Inc.
Genetic covariation of neuroticism with monoamine oxidase activity and smoking
Authors: Kirk Katherine M. , Whitfield John B. , Pang Dona , Heath Andrew C. , Martin Nicholas G.
Published: August 2002

Variation in the personality trait of neuroticism is known to be affected by genetic influences, but despite a number of association studies, the genes involved have not yet been characterized. In a recent study of platelet monoamine oxidase in 1,551 twin subjects, we found a significant association between monoamine oxidase activity and scores on the Eysenck Personality Questionnaire neuroticism scale. Further analyses presented here indicate that both neuroticism and monoamine oxidase activity are associated with variation in smoking habits, and that adjusting for the effect of smoking strengthens the association between MAO and neuroticism. Analysis of the genetic and environmental sources of covariation between neuroticism, smoking, and monoamine oxidase activity show that approximately 8% of the genetic variance in neuroticism is due to the same additive genetic effects that contribute to variation in monoamine oxidase activity, suggesting that variation in neuroticism is associated in part with aspects of serotonin metabolism. © 2001 Wiley‐Liss, Inc.
Lack of association between cathepsin D genetic polymorphism and Alzheimer disease in a Spanish sample
Authors: Mateo Ignacio , Sánchez‐Guerra Marisa , Combarros Onofre , Llorca Javier , Infante Jon , González‐García Javier , del Molino Jesús Pérez , Berciano José
Published: August 2002

Cathepsin D (catD) is an intracellular aspartyl protease that exhibits beta and gamma secretase‐like activity to cleave amyloid precursor protein into beta amyloid peptide. The T‐allele of a biallelic (alleles C and T) polymorphism in the exon 2 of the catD gene has been found to be associated with increased risk of Alzheimer disease (AD) in two independent German populations. Other groups have been unable to replicate this association in Caucasian American and Northern Ireland populations. Moreover, a small and no significant tendency for the T‐allele to be protective for AD has been demonstrated in Caribbean Hispanics. A case control study utilizing a clinically well‐defined group of 311 sporadic AD patients and 346 control subjects was performed to test this association in an ethnically homogeneous population from Spain. We did not observe any association between the T‐allele of the catD gene and the disease. Furthermore, catD was not predictive of AD in an interactive fashion when considering apolipoprotein E, age, or gender. © 2001 Wiley‐Liss, Inc.
Effects of cognitive challenge on self‐directed behaviors by chimpanzees (Pan troglodytes)
Authors: Leavens David A. , Aureli Filippo , Hopkins William D. , Hyatt Charles W.
Published: August 2002

In primates, including humans, scratching and other self‐directed behaviors (SDBs) have recently been reported to be differentially displayed as a function of social interactions, anxiety‐related drugs, and response outcomes during learning tasks. Yet few studies have focused on the factors influencing SDBs in our closest living relatives, the chimpanzees (Pan troglodytes). Furthermore, no previous experimental study has examined handedness of SDBs as a function of changes in task difficulty. Using matching‐to‐sample tasks of varying difficulty, the present study examines the effect of manipulations of task difficulty on rates, handedness, and type of SDBs in an experimental study of eight chimpanzees. SDBs were categorized as rubs, gentle scratches, and rough scratches. SDBs increased during difficult discriminations, but only for subjects who started the experiment on an easy discrimination; subjects who started on a difficult discrimination exhibited no differential rates of SDBs as a function of task difficulty. There was a tendency to exhibit relatively more SDBs with the right hand in the more difficult task. Rates of SDBs decreased after auditory feedback signals, suggesting a link between SDBs and uncertainty. Rubs were directed more to the face (trigeminal), and gentle and rough scratches more to the body (spinothalamic), suggesting that face‐directed SDBs may index a different motivational basis than scratches. Taken together, these results extend previous research on SDBs to the domain of cognitive stress in nonsocial contexts, demonstrating that SDBs are sensitive to manipulations of task difficulty in chimpanzees. Am. J. Primatol. 55:1–14, 2001. © 2001 Wiley‐Liss, Inc.
Episodic memory in primates
Authors: Schwartz Bennett L. , Evans Siân
Published: August 2002

Episodic memory refers to a system of memory with the capacity to recollect specific events from an individual’s life. Some psychologists have suggested that episodic memory is a uniquely human phenomenon. We challenge that idea and present evidence that great apes and other primates may possess episodic‐like memory. We review criteria developed to assess episodic‐like memory in nonhumans, and how they apply to primates. In particular, we discuss the criteria of Clayton et al. [2001], who stated that episodic‐like memory is based on the retrieval of multiple and integrated components of an event. We then review eight studies examining memory in great apes and apply the Clayton et al. criteria to each of them. We summarize the evidence that is compatible with the existence of episodic‐like memory, although none of the data completely satisfy the Clayton et al. criteria. Morover, feelings of pastness and feelings of confidence, which mark episodic memory in humans, have not been empirically addressed in nonhuman primates. Future studies should be directed at these aspects of memory in primates. We speculate on the functional significance of episodic memory in nonhuman primates. Am. J. Primatol. 55:71–85, 2001. © 2001 Wiley‐Liss, Inc.
Maternal or fetal origin of rhesus monkey (Macaca mulatta) amniotic fluid leukocytes can be identified by polymerase chain reaction using the zinc finger Y gene
Authors: Macias A.E. , Wong S.W. , Sadowsky D.W. , Luetjens C.M. , Axthelm M.K. , Gravett M.G. , Haluska G.J. , Novy M.J.
Published: August 2002

Leukocytes can be found in substantial numbers within the intrauterine tissues and amniotic fluid of women, and play a central role in the pathophysiology of infection‐related preterm labor by their production of proinflammatory mediators. It remains unclear whether these leukocytes represent a fetal immune response, a maternal response, or a combination of the two. The objective of this study was to develop a test in the rhesus monkey (Macaca mulatta) suitable for determining the percentage of male fetal cells present in a population of leukocytes recovered from blood or amniotic fluid. We found inadequate specificity for rhesus monkey cells using commercial human Y‐chromosome paint kits (fluorescence in situ hybridization (FISH)). Human‐specific primers for the repetitive Y chromosome DYZ‐1 locus employed in the polymerase chain reaction (PCR) produced an unacceptable percentage of false positives. However, we successfully developed a PCR‐based test using rhesus‐specific primers for the zinc finger Y (ZFY) locus. Densitometry of PCR products from known ratios of male and female adult peripheral leukocytes generated a linear standard curve which provided quantitative results and required only 400 cells per sample. The rhesus beta globin (RBG) gene served as an internal control. The PCR test correctly discriminated the sex of peripheral leukocytes in 20 adult males, 20 adult females, two male fetuses, and one female fetus. Serial samples of amniotic fluid from four chronically catheterized rhesus monkeys bearing male fetuses were used to confirm the utility of this assay for quantifying fetal cells in amniotic fluid. In conclusion, we have developed a PCR test which is suitable for distinguishing male from female cells in adult and fetal blood and in amniotic fluid, which lends itself to a variety of diagnostic and biologic applications in the rhesus monkey and potentially in other nonhuman primates. Am. J. Primatol. 55:159–170, 2001. © 2001 Wiley‐Liss, Inc.
Genetic diversity of Y‐specific STRs in chimpanzees (Pan troglodytes)
Authors: Gusmão L. , González‐Neira A. , Alves C. , Sánchez‐Diz P. , Dauber E.M. , Amorim A. , Carracedo A.
Published: August 2002

Using the primers described for humans, sequences for 11 Y‐specific microsatellites (DYS434, DYS435, DYS436, DYS437, DYS438, DYS439, GATA A10, A7.1, A7.2, C4, and H4 [Gusmão et al., in press]), previously described in 10 male chimpanzees (Pan troglodytes), were confirmed in nine additional male chimpanzees. Sequences for nine additional microsatellites (DYS19, DYS385I and II, DYS389I and II, DYS390, DYS391, DYS392, and DYS393) were determined in all 19 male chimpanzees; homology to human Y‐Short Tandem Repeat (STRs) was confirmed by sequencing. Good amplification results were not obtained for DYS19 and DYS385I/II. Two amplicons were obtained for DYS389I/II, but in contrast to humans, the larger fragment was not Y‐specific. Moreover, no polymorphism was observed for DYS434, DYS435, or GATA A10. Consequently, these eight STRs were eliminated from further analyses, and haplotype and allele frequencies were estimated for the remaining 12 STRs. A high haplotype diversity value was found (1.000 ± 0.017), demonstrating the usefulness and informative power of these Y‐STRs for future studies on chimpanzee population genetics.Am. J. Primatol. 57:21–29, 2002. © 2002 Wiley‐Liss, Inc.
Strains of JC virus in Amerind‐speakers of North America (Salish) and South America (Guaraní), Na‐Dene‐speakers of New Mexico (Navajo), and modern Japanese suggest links through an ancestral Asian population†
Authors: Fernandez‐Cobo Mariana , Agostini Hansjürgen T. , Britez Graciela , Ryschkewitsch Caroline F. , Stoner Gerald L.
Published: August 2002

Previously we showed that strains of human polyoma virus JC among the Navajo in New Mexico, speakers of an Athapaskan language in the Na‐Dene language phylum, and among the Salish people in Montana, speakers of a language of the Salishan group in the Amerind family, were mainly of a northeast Asian genotype found in Japan (type 2A). We now report partial VP1‐gene, regulatory region, and complete genome sequences of JC virus (JCV) from the Guaraní Indians of Argentina. The Tupí‐Guaraní language represents the Equatorial branch of the Amerind language family proposed by Greenberg ([1987] Language in the Americas, Stanford: Stanford University Press). The partial VP1 gene sequences of the Guaraní revealed several variants of strains found in northeast Asia (Japan), as did the Salish. In contrast, the strains in the Navajo largely conformed to the prototype type 2A sequence (MY). Phylogenetic reconstruction with both the neighbor‐joining and maximum parsimony methods utilized three complete Guaraní JCV genome sequences, three genomes from the Salish people, and 27 other complete JCV genomes, including three from the Navajo and three from Japan. Both trees showed that all type 2A JCV strains from the North and South Americans are closely related phylogenetically to strains in present‐day Japan. However, variant sites in the coding regions, the T‐antigen intron, and the regulatory region link the type 2A strains in Amerind groups (Guaraní and Salish), but differentiate them from those in a Na‐Dene‐speaking (Navajo) population. The data suggest separation from a population ancestral to modern Japanese, followed by a second division within the ancestral group that led to Amerind‐ and Na‐Dene‐speaking groups. The data cannot, however, localize the latter split to the Asian mainland (two migrations) or to North America (one migration). Am J Phys Anthropol 118:154–168, 2002. Published 2002 Wiley‐Liss, Inc.
Vertebral age changes in Japanese macaques
Authors: Nakai Masashi
Published: August 2002

This study deals with maturation and aging of the vertebrae in Japanese macaques (Macaca fuscata fuscata) of known chronological age. The samples used were 103 skeletons of captive raised Japanese macaques varying in age from 6–23 years. Epiphyseal union between the vertebral body and the epiphyseal disk (epiphyseal ring, annular epiphysis) and degenerative changes of the vertebrae were macroscopically examined. It was revealed that vertebral epiphyseal union develops comparatively rapidly in the sacral and cervical vertebrae, moderately in the lumbar vertebrae, and slowly in the thoracic vertebrae. It was found that, as a central tendency, the vertebral epiphyseal union begins at about 6 years of age, progresses lineally in proportion to age, and completes at about 23 years of age. However, considerable variation in developmental states of union was observed among individuals of the same age. Concerning vertebral degenerative changes, few were observed among the present samples. Compared with the other primates with regard to the timing of vertebral maturation, shortening of duration of maturation was found among humans. Human vertebrae may have become an early‐maturing organ in order to sustain the increased loading that is accompanied by the adoption of habitual erect posture and bipedal locomotion. Am J Phys Anthropol 116:59–65, 2001. © 2001 Wiley‐Liss, Inc.
Variation in body mass index among Polish adults: Effects of sex, age, birth cohort, and social class
Authors: Bielicki Tadeusz , Szklarska Alicja , Welon Zygmunt , Rogucka Elzbieta
Published: August 2002

Variation in the body mass index (BMI) among occupationally active inhabitants of one Polish urban center was studied by means of a three‐factor ANOVA. The material is cross‐sectional and comprises 32,750 men and women aged 22–60 years, examined in five successive surveys between 1983–1999. The factors considered in each sex were: 1) age category, 2) year of examination, and 3) social class. The increase of BMI with age is markedly greater among women than among men. No sustained intergeneration trend towards increased BMI was detectable in either sex. The BMI means rise regularly with decreasing position on the social scale in both sexes, but this effect is much more dramatic in women. The latter finding suggests that the condition of being situated low on the social scale is conducive to growth of fatness with age, markedly more so in women than in men. The absence of a secular trend in BMI means during the period considered contrasts with results reported for a number of other countries. This finding is intriguing, because Poland underwent abrupt and profound socio‐economic transformation in the early 1990s. Am J Phys Anthropol 116:166–170, 2001. © 2001 Wiley‐Liss, Inc.
Blood genomic responses differ after stroke, seizures, hypoglycemia, and hypoxia: Blood genomic fingerprints of disease
Authors: Tang Yang , Lu Aigang , Aronow Bruce J. , Sharp Frank R.
Published: August 2002

Using microarray technology, we investigated whether the gene expression profile in white blood cells could be used as a fingerprint of different disease states. Adult rats were subjected to ischemic strokes, hemorrhagic strokes, sham surgeries, kainate‐induced seizures, hypoxia, or insulin‐induced hypoglycemia, and compared with controls. The white blood cell RNA expression patterns were assessed 24 hours later using oligonucleotide microarrays. Results showed that many genes were upregulated or downregulated at least twofold in white blood cells after each experimental condition. Blood genomic response patterns were different for each condition. These results demonstrate the potential of blood gene expression profiling for diagnostic, mechanistic, and therapeutic assessment of a wide variety of disease states.
Increased HTLV‐I proviral load and preferential expansion of HTLV‐I tax‐specific CD8+ T cells in cerebrospinal fluid from patients with HAM/TSP
Authors: Nagai Masahiro , Yamano Yoshihisa , Brennan Meghan B. , Mora Carlos A. , Jacobson Steven
Published: August 2002

To date, high human T‐cell lymphotropic virus type I proviral load in patients with human T‐cell lymphotropic virus type I‐associated myelopathy/tropical spastic paraparesis has been reported and is thought to be related to the pathogenesis of human T‐cell lymphotropic virus type I‐associated myelopathy/tropical spastic paraparesis. However, the proviral load in cerebrospinal fluid has not been well investigated. We measured human T‐cell lymphotropic virus type I proviral load in cerebrospinal fluid cells from human T‐cell lymphotropic virus type I‐associated myelopathy/tropical spastic paraparesis patients using real‐time quantitative polymerase chain reaction (TaqMan). Human T‐cell lymphotropic virus type I proviral load in cerebrospinal fluid cells were significantly higher than that of the matched peripheral blood mononuclear cells, and a high ratio of human T‐cell lymphotropic virus type I proviral load in cerebrospinal fluid cells to peripheral blood mononuclear cells were observed in patients with short duration of illness. Human T‐cell lymphotropic virus type I Tax‐specific CD8+ T cells, as detected by peptide‐loaded HLA tetramers, accumulated in cerebrospinal fluid compared with that in peripheral blood mononuclear cells, while the frequency of cytomegalovirus‐specific CD8+ T cells in cerebrospinal fluid was reduced. These observations suggest that accumulation of both human T‐cell lymphotropic virus type I‐infected cells and preferential expansion of human T‐cell lymphotropic virus type I‐specific CD8+ cells in cerebrospinal fluid may play a role in the pathogenesis of human T‐cell lymphotropic virus type I‐associated myelopathy/tropical spastic paraparesis.
Imaging hippocampal function across the human life span: Is memory decline normal or not?
Authors: Small Scott A. , Tsai Wei Yann , DeLaPaz Robert , Mayeux Richard , Stern Yaakov
Published: August 2002

Memory function commonly declines in later life. Whether memory decline represents a disease process or whether it is part of normal aging remains unknown. Here we answer this question by assessing the function of multiple subregions that make up the hippocampal circuit across the human life span. A newly developed MRI approach—designed to detect functional changes in individual hippocampal subregions—was used to assess the hippocampal circuit in 70 subjects between 20 and 88 years of age. Using strict parametric criteria, analysis revealed that function in two hippocampal subregions—the subiculum and the dentate gyrus—decline normally with age. In contrast, function in the entorhinal cortex declines pathologically. Single‐subject analysis revealed that hippocampal dysfunction, found in 60% of elders was selectively correlated with memory decline. These results show that memory decline is caused by different mechanisms and suggests how memory decline should be approached clinically.
Localization of autosomal recessive early‐onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset
Authors: Bonifati Vincenzo , Breedveld Guido J. , Squitieri Ferdinando , Vanacore Nicola , Brustenghi Pierluigi , Harhangi Biswadjiet S. , Montagna Pasquale , Cannella Milena , Fabbrini Giovanni , Rizzu Patrizia , van Duijn Cornelia M. , Oostra Ben A. , Meco Giuseppe , Heutink Peter
Published: August 2002

Two new loci, PARK6 and PARK7, for autosomal recessive early‐onset parkinsonism have recently been identified on chromosome 1p, in single large pedigrees. Among 4 autosomal recessive early‐onset families analyzed here, 2 supported linkage to PARK7, 1 with conclusive evidence. These data confirm localization of autosomal recessive early‐onset parkinsonism to PARK7, suggesting it to be a frequent locus. Assignment of families to either PARK6 or PARK7 might be difficult because of the proximity of the two loci on chromosome 1p.
Septo‐optic dysplasia associated with a new mitochondrial cytochrome b mutation
Authors: Schuelke Markus , Krude Heiko , Finckh Barbara , Mayatepek Ertan , Janssen Antoon , Schmelz Michael , Trefz Friedrich , Trijbels Frans , Smeitink Jan
Published: August 2002

We report on a 25‐year‐old patient with isolated mitochondrial complex III deficiency and a new heteroplasmic mutation (T14849C) in the cytochrome b gene. He suffered from septo‐optic dysplasia, retinitis pigmentosa, exercise intolerance, hypertrophic cardiomyopathy, and rhabdomyolysis. A HESX1 mutation was excluded as a cause of his septo‐optic dysplasia. Low α‐tocopherol concentrations in his muscles and an elevated urinary leukotriene E4 excretion indicate increased production of reactive oxygen species.
Brain proteasomal function in sporadic Parkinson's disease and related disorders
Authors: Furukawa Yoshiaki , Vigouroux Sophie , Wong Henry , Guttman Mark , Rajput Ali H. , Ang Lee , Briand Marièle , Kish Stephen J. , Briand Yves
Published: August 2002

Because genetic defects relating to the ubiquitin–proteasome system were reported in familial parkinsonism, we evaluated proteasomal function in autopsied brains with sporadic Parkinson's disease. We found that proteasome peptidase activities in a fraction specific to the proteasome were preserved in five brain areas (including the striatum) of Parkinson's disease where neuronal loss is not observed. Striatal protein levels of two proteasome subunits were normal in Parkinson's disease but reduced mildly in disease controls (multiple system atrophy). Our brain data suggest that a systemic, global disturbance in the catalytic activity and degradation ability of the proteasome itself is unlikely to explain the cause of Parkinson's disease.
Topiramate blocks perinatal hypoxia‐induced seizures in rat pups
Authors: Koh Sookyong , Jensen Frances E.
Published: August 2002

Neonatal seizures caused by hypoxia can be refractory to conventional anticonvulsants. Currently, there is no effective postnatal intervention for newborn infants with hypoxic encephalopathy to prevent brain injury and long‐term neurologic sequelae. We previously developed a rat model of perinatal hypoxia‐induced seizures with subsequent long‐term increases in seizure susceptibility and showed that these epileptogenic effects are selectively blocked by the α‐amino‐3‐hydoxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA) receptor antagonist 6‐nitro‐7‐sulfamoylbenzo(f)quinoxaline‐2,3‐dione. Using this model of perinatal seizures, we evaluated the efficacy of topiramate, a structurally novel anticonvulsant drug recently shown to attenuate AMPA/kainate currents. Topiramate effectively suppressed acute seizures induced by perinatal hypoxia in a dose‐related manner with a calculated ED50 of 2.1mg/kg, i.p. Furthermore, in animals that had seizures suppressed by topiramate during acute hypoxia, there were no long‐term increases in susceptibility to kainate‐induced seizures and seizure‐induced neuronal injury. Our results suggest that topiramate may have clinical potential as a therapeutic agent for refractory seizures in human neonates.
Human herpesvirus 6 limbic encephalitis after stem cell transplantation
Authors: Wainwright Mark S. , Martin Paul L. , Morse Richard P. , Lacaze Mary , Provenzale James M. , Coleman R. Edward , Morgan Marcello A. , Hulette Christine , Kurtzberg Joanne , Bushnell Cheryl , Epstein Leon , Lewis Darrell V.
Published: August 2002

Central nervous system complications are common in stem cell transplant recipients, but selective involvement of the medial temporal area is unusual. The 5 patients reported here presented after stem cell transplantation with increased hippocampal T2 signal on magnetic resonance imaging and increased hippocampal glucose uptake on [F‐18]fluorodeoxyglucose‐positron emission tomography (FDG‐PET) associated with short‐term memory loss, insomnia, and temporal lobe electrographic seizure activity. The initial scalp electroencephalograms (EEGs) failed to detect seizure activity in these patients, although the memory dysfunction along with the magnetic resonance imaging and FDG‐PET findings suggested subcortical seizure activity. However, extended EEG monitoring revealed repetitive temporal lobe electrographic seizure activity. Follow‐up MRIs in 2 patients and postmortem findings on 1 patient suggested that hippocampal sclerosis had developed following the clinical syndrome. Cerebrospinal fluid studies revealed the presence of human herpesvirus 6, variant B, DNA in all of 3 patients who had lumbar punctures. Immunohistochemical staining for the P41 and P101 human herpesvirus 6 protein antigens showed numerous immunoreactive astrocytes and neurons in the hippocampus of 1 of the patients who died from other causes. Because of its subtle clinical presentation, this syndrome may be underrecognized, but can be diagnosed with appropriate magnetic resonance imaging techniques, EEG monitoring, and cerebrospinal fluid viral studies.