bluuebunny/crossref_metadata_2025 huggingface dataset:
Effect of Venous Strangulation Obstruction on Length of Equine Jejunum and Relevance to Small‐Intestinal Resection
Authors: Freeman David E. , Kilgallon Elizabeth G.
Published: August 2002

Abstract— To determine if venous strangulation obstruction (VSO) of the distal half of the equine small intestine would increase length of that segment.

Study Design— Halothane‐anesthetized horses were assigned randomly to 3 groups of 5 horses: Group 1 (controls)—the entire small intestine was measured and rubber‐shod clamps were applied to mark each end of the most distal 50% of the small intestine; Group 2—same procedure, except that VSO was induced in the distal 50% of the small intestine for 180 minutes; and Group 3—same initial procedure, except that VSO was induced for 90 minutes and followed by reperfusion for 90 minutes.

Animals or Sample Population— Fifteen horses.

Methods— The proximal and distal halves of the small intestine were measured before and at 180 minutes after clamps and ligatures were applied. At the end of the study, biopsies were taken to assess mucosal epithelial damage by light microscopy, and horses were euthanatized while under general anesthesia.

Results— Intestine subjected to VSO and VSO and reperfusion had marked hemorrhagic changes and thickening in the intestinal wall. Both groups had incurred a grade 2.8 of 5 mucosal injury by 180 minutes. Total length of small intestine and length of the distal 50% did not change in the control group, but intestine subjected to VSO only and VSO and reperfusion had increased in length by 29% (P < .05) and 36% (P < .05), respectively.

Conclusions— Small intestine of horses subjected to VSO can increase in length, and this change could cause an overestimate of the amount of intestine involved in an extensive strangulating lesion.

Clinical Relevance— An overestimate of the amount of intestine involved in an extensive strangulating lesion could lead to an overly pessimistic assessment of a horse's risk for postresection malabsorption and maldigestion. Therefore, estimates of the proportion of small intestine that is strangulated should be corrected for this potential error and the risk of malabsorption determined accordingly.
Elastic neural net for the earthquake epicenter search
Authors: Antoniou I. , Ivanov V. V. , Kisel I. V.
Published: August 2002

Automatic processing of seismic data is today a key element in the efforts to achieve high quality seismic systems. Automated procedures for locating seismic events with a network including arrays and single element seismometers usually incorporate back‐azimuth estimates, arrival‐time data, and associated uncertainties into a least‐squares‐inverse location algorithm. Such an algorithm is quite cumbersome and requires expanding a set of non‐linear equations in a Taylor series. Second‐order terms usually not included in the algorithm can be important if the initial estimate is far from the solution.

We propose to use elastic neural nets (ENN) to find the initial estimation in automated procedures of locating seismic events and discuss the results for simulated seismic events. The advantages of ENN are the simplicity of the algorithm, the fast convergence and the high efficiency.
Effect of parameter calculation in direct estimation of the Lyapunov exponent in short time series
Authors: Jiménez A. M. López , Vara de Rey C. Camacho Martínez , Torres A. R. García
Published: August 2002

The literature about non‐linear dynamics offers a few recommendations, which sometimes are divergent, about the criteria to be used in order to select the optimal calculus parameters in the estimation of Lyapunov exponents by direct methods. These few recommendations are circumscribed to the analysis of chaotic systems. We have found no recommendation for the estimation of λ
starting from the time series of classic systems. The reason for this is the interest in distinguishing variability due to a chaotic behavior of determinist dynamic systems of variability caused by white noise or linear stochastic processes, and less in the identification of non‐linear terms from the analysis of time series. In this study we have centered in the dependence of the Lyapunov exponent, obtained by means of direct estimation, of the initial distance and the time evolution. We have used generated series of chaotic systems and generated series of classic systems with varying complexity. To generate the series we have used the logistic map.
Testability Synthesis for Jumping Carry Adders
Authors: Chen Chien-In Henry , Wagh Mahesh
Published: August 2002

Synthesis for testability ensures that the synthesized circuit is testable by exploring the fundamental relationship between don′t care and redundancy. With the exploration of the relationship, redundancy removal can be applied to improve the testability, reduce the area and improve the speed of a synthesized circuit. The test generation problems have been adequately solved, therefore an innovative testability synthesis strategy is necessary for achieving the maximum fault coverage and area reduction for maximum speed. This paper presents a testability synthesis methodology applicable to a top–down design method based on the identification and removal of redundant faults. Emphasis has been placed on the testability synthesis of a high‐speed binary jumping carry adder. A synthesized 32‐bit testable adder implemented by a 1.2 μm CMOS technology performs addition in 4.09 ns. Comparing with the original synthesized circuit, redundancy removal yields a 100% testable design with a 15% improvement in speed and a 25% reduction in area.
COPAS: A New Algorithm for the Partial Input Encoding Problem
Authors: Martínez Manuel , Avedillo María J. , Quintana José M. , Huertas José L.
Published: August 2002

Frequently, the logic designer deals with functions with symbolic input variables. The binary encoding of such symbols should be chosen to optimize the final implementation. Conventionally, this input encoding (IE) problem has been solved in a two‐step process. First step generates constraints on the relationship between codes for different symbols, called group constraints. In a following step, symbols are encoded such that constraints are satisfied. This paper addresses the partial input encoding problem (PIE), a variation of the IE problem which generates codes of minimum length. The role of group constraints within the framework of the PIE problem has been questioned. This paper describes an algorithm that unlike conventional approaches, which try to maximize the number of satisfied constraints, targets the economical implementation of each input constraint. The proposed approach is based on a powerful heuristic that produces high quality results in shorter time compared to previous algorithm.
Topology of the Mitochondrial Inner Membrane: Dynamics and Bioenergetic Implications
Authors: Mannella Carmen A. , Pfeiffer Douglas R. , Bradshaw Patrick C. , Moraru Ion I. , Slepchenko Boris , Loew Leslie M. , Hsieh Chyong‐ere , Buttle Karolyn , Marko Michael
Published: August 2002

Electron tomography indicates that the mitochondrial inner membrane is not normally comprised of baffle‐like folds as depicted in textbooks. In actuality, this membrane is pleomorphic, with narrow tubular regions connecting the internal compartments (cristae) to each other and to the membrane periphery. The membrane topologies observed in condensed (matrix contracted) and orthodox (matrix expanded) mitochondria cannot be interconverted by passive folding and unfolding. Instead, transitions between these morphological states likely involve membrane fusion and fission. Formation of tubular junctions in the inner membrane appears to be energetically favored, because they form spontaneously in yeast mitochondria following large‐amplitude swelling and recontraction. However, aberrant, unattached, vesicular cristae are also observed in these mitochondria, suggesting that formation of cristae junctions depends on factors (such as the distribution of key proteins and/or lipids) that are disrupted during extreme swelling. Computer modeling studies using the “Virtual Cell” program suggest that the shape of the inner membrane can influence mitochondrial function. Simulations indicate that narrow cristae junctions restrict diffusion between intracristal and external compartments, causing depletion of ADP and decreased ATP output inside the cristae.
Mitogenic and Apoptotic Signaling by Carotenoids: Involvement of a Redox Mechanism
Authors: Palozza Paola , Serini Simona , Nicuolo Fiorella Di , Calviello Gabriella
Published: August 2002

The potential for carotenoids to modulate tumor growth is currently under investigation. Although epidemiological studies evidence that a high intake of vegetables, rich in carotenoids, decreases cancer incidence and mortality, clinical trials demonstrate that supplementation of β‐carotene to chronic smokers or to asbestos workers increases the risk for lung cancer. These contradictory findings have renewed interest in elucidating the mechanism of action of carotenoids in biological systems. In this review, we show evidence for mitogenic and apoptotic effects of carotenoids and we support the hypothesis that these molecules may act as anticarcinogens or as procarcinogens through a redox mechanism. In particular, we report demonstrations for the anti‐oxidant or pro‐oxidant effects of carotenoids in vitro and in vivo, focusing our attention on the relationship existing between cell growth and redox status.
Bayesian Approach to the Best Estimate of the Hubble Constant
Authors: Wang Xiao-Feng  , Chen Li  , Li Zong-Wei
Published: August 2002

A Bayesian approach is used to derive the probability distribution (PD)
of the Hubble constant H
0 from recent measurements
including supernovae Ia, the Tully-Fisher
relation, population II and physical methods. The discrepancies among
these PDs are briefly discussed. The combined value of all the measurements
is obtained, with a 95% confidence interval of 58.7<H
0<67.3
(km·s-1 ·Mpc-1).

PACS:  98. 80. Es, 02. 50. Cw
Aggression, violence, and the death of a Dutch soccer hooligan: A reversal theory explanation
Authors: Kerr John H. , de Kock Hilde
Published: August 2002

In March 1997, an aggressive and violent confrontation took place between more than 3000 rival soccer hooligans in the small town of Beverwijk in the Netherlands. In the prearranged and well‐organized confrontation, a 35 year‐old man was beaten and stabbed to death and others were seriously wounded. In this paper, the details of what happened at Beverwijk and the response of the Dutch authorities, including the subsequent arrest and conviction of the main perpetrators, are reviewed. In addition, the psychological approach of reversal theory [Apter MJ. 1992. The Dangerous Edge. New York: The Free Press] is used to answer several unresolved questions about the motivation of the Dutch soccer hooligans involved in the aggressive behavior and violent fighting at Beverwijk. Aggr. Behav. 28:1–10, 2002. © 2002 Wiley‐Liss, Inc.
State observation and adaptive linearizing control for distributed parameter (bio)chemical reactors
Authors: Dochain D.
Published: August 2002

This paper is concerned with the design and real‐life application of observers and control algorithms for distributed parameter (bio)chemical reactors. The designed observer does not require the knowledge of the process kinetics and belongs to the class of observers for systems with unknown inputs. The designed controller is an adaptive linearizing controller. The performances of both observer and controller are illustrated with real‐life applications: a chemical process (synthesis of ETBE) and a biochemical process (denitrifying biofilter). Copyright © 2001 John Wiley & Sons, Ltd.
Electromagnetic interference shielding effectiveness of conductive carbon black and carbon fiber‐filled composites based on rubber and rubber blends
Authors: Das N. C. , Chaki T. K. , Khastgir D. , Chakraborty A.
Published: August 2002

Conductive rubber‐based composites were derived from EVA, EPDM, and 50/50 EVA/EPDM blend filled with carbon black and short carbon fiber (SCF). The electromagnetic interference (EMI) shielding effectiveness and return loss were studied. The measurements of shielding effectiveness (SE) of the composites were carried out in two different frequency ranges: 100–2,000 MHz and 8–12 GHz (X‐band). It has been observed that the shielding effectiveness of the composites is frequency dependent and increases with increasing frequency. The increasing of filler loading also enhances the SE of the composites. It is also found that 50/50 EVA/EPDM blend systems have higher shielding effectiveness than pure EVA and EPDM SCF‐filled composites. The correlation between shielding effectiveness and bulk conductivity of various composites is also discussed. © 2001 John Wiley & Sons, Inc. Adv Polym Techn 20: 226–236, 2001
Management of a patient with HIV infection‐induced anemia and thrombocytopenia who presented with thrombotic thrombocytopenic purpura
Authors: Gruszecki Amy C. , Wehrli Gay , Ragland Brian D. , Reddy Vishnu V.B. , Nabell Lisle , Garcia‐Hernandez Alejandro , Marques Marisa B.
Published: August 2002

A 32‐year‐old male presented with fever, mental status changes, renal dysfunction, cytopenias and hemolysis. His platelet count was 14,000/μL, hemoglobin 5.7 g/dL and LDH 2,636 U/L. He was diagnosed with thrombotic thrombocytopenic purpura (TTP) and also found to be HIV positive on admission. TTP was confirmed by a low von Willebrand factor‐cleaving protease level, the gold standard test for TTP, which was 10–15%. No protease‐specific antibody was detected. Treatment of this patient consisted of 23 plasmapheresis procedures and trials of vincristine and dextran‐70. Despite therapy, the patient remained anemic and thrombocytopenic, though his mental status and renal abnormalities improved. Highly active anti‐retroviral therapy (HAART) consisting of efavirenz, 3TC, and d4T was started. Only after plasma exchanges were discontinued and HAART was instituted did the cytopenias resolve. He continued to improve following discharge, and platelet count was 206,000/μL and hemoglobin, 12.5 g/dL one month after the initiation of HAART. Am. J. Hematol. 69:228–231, 2002. © 2002 Wiley‐Liss, Inc.
Unusual presentation of multiple myeloma with unilateral visual loss and numb chin syndrome in a young adult
Authors: Hogan Marie C. , Lee Augustine , Solberg Lawrence A. , Thomé Stephan D.
Published: August 2002

A 39‐year‐old man presented with unilateral visual loss as the first sign of multiple myeloma (MM). His visual loss was due to a plasmacytoma in the sphenoid sinus compressing the optic nerve with resultant optic nerve atrophy. Shortly after this presentation he developed numb chin syndrome due to a mandibular plasmocytoma compressing the mental nerve. His MM progressed rapidly despite treatment with high‐dose steroids and alkylating agents and he required allogeneic bone marrow transplantation in order to achieve a remission. We reviewed the published medical literature on the presentation of MM with visual impairment and present a summary in tabular form in this paper. This is the first reported case of MM presenting with isolated complete visual loss due to intracranial extrinsic compression of the optic nerve since the advent of modern cross‐sectional imaging. Multiple myeloma needs to be included in the differential diagnosis of cranial neuropathies and skull base neoplasms even in adults under 40 years of age. Am. J. Hematol. 70:55–59, 2002.
An unusual presentation of extramedullary plasmacytoma occurring sequentially in the testis, subcutaneous tissue, and heart
Authors: Fernandez L.A. , Couban S. , Sy R. , Miller R.
Published: August 2002

Extramedullary plasmacytoma (EMP) is a rare neoplasm of soft tissue that usually arises in the respiratory tract, nasal cavity, sinuses, and nasopharynx. It is even more uncommon for it to arise either in the testis or heart. We report the presentation of a case where plasmacytomas were found sequentially in the testis, subcutaneous tissue, and heart. EMP usually has a good prognosis except when it involves the heart. Our patient survived for only 15 months post autologous hematopoietic stem cell transplantation. Am. J. Hematol. 67:194–196, 2001. © 2001 Wiley‐Liss, Inc.
Clinical experience with a new specimen capturing bone marrow biopsy needle
Authors: Goldenberg Alec S. , Tiesinga James J.
Published: August 2002

The SNARECOIL™ needle is a specimen capturing bone marrow biopsy needle that incorporates a tiny internal capturing coil. It was developed to minimize postinsertion needle manipulation and to facilitate specimen recovery. Forty‐four patients underwent 50 bone marrow biopsy procedures with the SNARECOIL needle for a variety of hematologic indications. Second and third procedures were done for follow‐up or staging. Each procedure retrieved a specimen with an average length of 2.1 cm. Fifty‐two percent of the specimens were ⩾2.0 cm in length. The majority of specimens demonstrated intact marrow architecture enabling a pathologic diagnosis in every case. Delicate cores of nontrabeculated marrow were recovered in three cases. The SNARECOIL bone marrow biopsy needle reliably retrieves intact bone marrow core specimens for pathologic interpretation. Am. J. Hematol. 68:189–193, 2001 © 2001 Wiley‐Liss, Inc.
Factors associated with medical care‐seeking due to low‐back pain in scaffolders
Authors: Molano S.M. , Burdorf A. , Elders L.A.M.
Published: August 2002

Background

Few studies have demonstrated the consequences of having back pain and the mechanisms underlying decisions to seek medical care. This study aimed to assess the prevalence of back pain and other musculoskeletal complaints and to identify factors that determine specific type of care‐seeking due to back pain among scaffolders.

Methods

A cross‐sectional study was conducted among 323 scaffolders. A questionnaire was used to collect data on musculoskeletal complaints and type of medical care sought. Logistic regression analysis was performed to study the risk factors for care‐seeking for LBP, estimating Prevalence Ratios (PR) as a measure of association.

Results

The prevalence of musculoskeletal complaints was high. Severe back pain was reported by 28% of the scaffolders, LBP with sciatic pain by 23%, with sickness absence by 21%, with disability by 21%, and chronic back pain by 14%. Back pain was often accompanied by complaints of neck, shoulder, or knee. A general practitioner was sought by 44% of the workers with LBP, a physiotherapist by 22%, an occupational physician by 20%, and a specialist by 11%. The nature and severity of back pain seemed to determine the decision to visit the GP. Irradiating pain and sickness absence were the strongest predictors for seeking medical care and being referred to a specialist or physiotherapist.

Conclusion

The particular definition of back pain and the selection process of workers with LBP may partly determine the findings on work‐related risk factors and health care utilization. Am. J. Ind. Med. 40:275–281, 2001. © 2001 Wiley‐Liss, Inc.
Re: Response to criticisms of “lung cancer case‐control study of beryllium workers” Am. J. Ind. Med. 2001. 39:133–144.
Authors: Sanderson Wayne T. , Ward Elizabeth M. , Steenland Kyle
Published: August 2002

To the Editor: Dr. David Deubner et al. have criticized our nested case‐control study of the association between beryllium exposure and lung cancer [Sanderson et al., 2001a]. In this study, we estimated the beryllium exposures of workers in a beryllium alloy production plant from the 1940s through the 1970s in order to conduct an exposure‐response analysis. A manuscript describing how these exposure estimates were determined was published as a companion paper [Sanderson et al., 2001b]. The following are our responses to these criticisms.
Symptom domains in autism and related conditions: Evidence for familiality
Authors: Silverman Jeremy M. , Smith Christopher J. , Schmeidler James , Hollander Eric , Lawlor Brian A. , Fitzgerald Michael , Buxbaum Joseph D. , Delaney Katherine , Galvin Patricia
Published: August 2002

Heterogeneity in autism impairs efforts to localize and identify the genes underlying this disorder. As autism comprises severe but variable deficits and traits in three symptom domains (social interaction, communication, and repetitive behaviors) and shows variability in the presence and emergence of useful phrase speech, different genetic factors may be associated with each. The affected cases (n = 457) in multiply affected siblingships (n = 212), including a proband with autism and one or more siblings with either autism or marked deficits in autism symptom domains, were assessed using the Autism Diagnostic Interview, Revised. Symptom domain scores and language features were examined to determine their similarity within siblingships. The variance within siblingships was reduced for the repetitive behavior domain and for delays in and the presence of useful phrase speech. These features and the nonverbal communication subdomain provided evidence of familiality when we considered only the diagnosis of autism to define multiply affected siblingships (cases: n = 289; siblingships: n = 136). In addition, the same familial features identified also appeared familial for those with autism‐related conditions. Finally, the level of severity of almost all of the familial features varied within multiplex siblingships independently. The features identified as familial replicate the combined set suggested in earlier, smaller studies. Furthermore, the familiality of these features extend to related conditions of milder severity than autism and appear to be independent. Making distinctions among families by the severity of these features may be useful for identifying more genetically homogeneous subgroups in studies targeted at genes for specific autism‐related symptom domains. © 2001 Wiley‐Liss, Inc.
Paternal transmission of the congenital form of myotonic dystrophy type 1: A new case and review of the literature
Authors: Zeesman Susan , Carson Nancy , Whelan Donald T.
Published: August 2002

Myotonic dystrophy type 1 (DM1) is an autosomal dominant trinucleotide repeat disorder that shows anticipation. The mildest manifestations of the DM gene are usually noted in individuals with the smallest repeat sizes, while congenital myotonic dystrophy (CDM) is the most common clinical outcome of the larger expansions. For many years, it was thought that CDM could only be maternally transmitted. However, in the last few years, cases of paternal transmission of CDM have been described. We report a child with the CDM phenotype and 1, 800 CTG repeats born to an asymptomatic father with 65 repeats and compare this case to the four currently in the literature. We note that polyhydramnios was present in the majority of cases and that all fathers whose status was known had small repeat sizes and/or were asymptomatic at the time of their child's birth. Although it may be unusual, the possibility of the paternal transmission of CDM should be mentioned when counseling families with DM. The men who are at highest risk may be those who have small repeats sizes and are asymptomatic. © 2001 Wiley‐Liss, Inc.
Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida
Authors: Shaw Gary M. , Lammer Edward J. , Zhu Huiping , Baker Mei Wang , Neri Eric , Finnell Richard H.
Published: August 2002

Women who consume folic acid in early pregnancy reduced their risks for delivering offspring with neural tube defects (NTDs). The underlying process by which folic acid facilitated this risk reduction is unknown. Investigating genetic variation that influences cellular absorption, transport, and metabolism of folate will help fill this data gap. We focused our studies on a candidate gene that is involved in folate transport, the reduced folate carrier 1 (RFC1). Using data from a California population–based case control interview study (1989–1991 birth cohorts), we investigated whether spina bifida risk was influenced by an interaction between a polymorphism of infant RFC1 at nucleotide 80 (A80G) and maternal periconceptional use of vitamins containing folic acid. Allelic variants of RFC1 were determined by genotyping 133 live‐born spina bifida case infants and 188 control infants. The percentages of case infants with the A80/A80, G80/G80, and G80/A80 genotypes were 27.2%, 28.0%, and 44.7%, respectively. The percentages of control infants were similar: 26.1%, 29.3%, and 44.7%. Odds ratios of 1.0 (95% confidence interval 0.5–2.0) for the G80/G80 genotype and 1.1 (0.6–2.0) for the G80/A80 genotype were observed relative to the A80/A80 genotype. Among mothers who did not use vitamins, spina bifida risk was 2.4 (0.8–6.9) for infants with genotype G80/G80 compared to those with A80/A80 genotype. Among mothers who did use vitamins, the risk was 0.5 (0.1–3.1) for infants with the G80/G80 genotype. Although this study did not find an increased spina bifida risk for infants who were heterozygous or homozygous for RFC1 A80G, it did reveal modest evidence for a gene‐nutrient interaction between infant homozygosity for the RFC1 G80/G80 genotype and maternal periconceptional intake of vitamins containing folic acid on the risk of spina bifida. © 2002 Wiley‐Liss, Inc.
Anticipation in a unique family with Charcot‐Marie‐Tooth syndrome and deafness: Delineation of the clinical features and review of the literature
Authors: Kovach M.J. , Campbell K.C.M. , Herman K. , Waggoner B. , Gelber D. , Hughes L.F. , Kimonis V.E.
Published: August 2002

Charcot‐Marie‐Tooth disease (CMT) is a clinically and genetically heterogeneous group of polyneuropathies characterized by degeneration of peripheral nerves, resulting in distal muscle atrophy, sensory loss, and deformities of hands and feet. We have studied 34 individuals in a large 84‐member four‐generation central Illinois family with autosomal dominant Charcot‐Marie‐Tooth and deafness. Nerve conduction velocities are consistent with type 1 CMT. Audiological evaluation revealed both auditory neuropathy and cochlear involvement in affected individuals. There is increasing clinical severity and younger age of onset of CMT and deafness with each progressive generation, suggestive of anticipation (P < 0.05). The proband, a female diagnosed at birth with hypotonia, bilateral vocal cord palsy, swallowing incoordination, and hearing impairment, died at age 18 months. Another individual died at the age of 3 months from hypotonia later attributed to CMT. Genetic analysis indicated that affected individuals in this family do not have the common 1.4 Mb duplication associated with type 1A CMT; however, all affected individuals have a unique G to C transversion at position 248 in coding exon 3 of the peripheral myelin PMP22 gene located on chromosome 17p11.2‐p12. This mutation is predicted to cause an Ala67Pro substitution in the second transmembrane domain of PMP22, consistent with the molecular cause of the CMT phenotype. However, it does not explain the cochlear component of the deafness, the clinical observation of anticipation, and other features in this family. © 2002 Wiley‐Liss, Inc.
Familial digital arthropathy‐brachydactyly
Authors: Amor David J. , Tudball Coral , Gardner R.J. McKinlay , Lamandé Shireen R. , Bateman John F. , Savarirayan Ravi
Published: August 2002

We report a large family with a previously undescribed, dominantly inherited condition comprising arthropathy of the hands and feet and progressive shortening of the middle and distal phalanges. We have designated the condition familial digital arthropathy‐brachydactyly (FDAB). Onset of FDAB is in the first decade and the arthropathy is progressive, resulting in deformity and pain in adult life. The remainder of the skeleton is not affected. It is hypothesized from the radiological appearance of patients at different ages that FDAB might result from subchondral pathology primarily affecting the heads of the phalanges, metacarpals, and metatarsals, with the arthropathy and brachydactyly being secondary effects. © 2002 Wiley‐Liss, Inc.
Investigation of linkage and association/linkage disequilibrium of HLA A‐, DQA1‐, DQB1‐, and DRB1‐alleles in 69 sib‐pair‐ and 89 trio‐families with schizophrenia
Authors: Schwab Sibylle G. , Hallmayer Joachim , Freimann Julia , Lerer Bernard , Albus Margot , Borrmann‐Hassenbach Margitta , Segman Ronnen H. , Trixler Matyas , Rietschel Marcella , Maier Wolfgang , Wildenauer Dieter B.
Published: August 2002

The hypothesis that HLA antigens confer susceptibility to schizophrenic disorders has been tested by studying linkage and association in a family sample with 69 sib‐pair families. Suggestive evidence for linkage was obtained by nonparametric multipoint LOD score analysis with a maximum around DQB CAR (P = 0.0004), a microsatellite marker that is in linkage disequilibrium with the HLA antigen DQB1. Spurious evidence for negative association as calculated by the transmission disequilibrium test was found for HLA‐ DRB1*11 (chi‐square = 11.72, corrected P value = 0.03) and for the haplotype DQB1*301—DQA1*501—DRB1*11 (chi‐square = 11.3, corrected P value = 0.043). No evidence of association with these alleles was obtained in a sample of 89 trios with schizophrenic offspring and parents. Our results are not in favor of a direct involvement of the HLA system in development of schizophrenia, but are compatible with the possible existence of a susceptibility gene in the MHC region at chromosome 6p 21.31. © 2002 Wiley‐Liss, Inc.
Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome
Authors: Cargile Colyn B. , Goh Denise L.‐M. , Goodman Barbara K. , Chen Xiao‐Ning , Korenberg Julie R. , Semenza Gregg L. , Thomas George H.
Published: August 2002

Deletion 3p syndrome is associated with characteristic facial features, growth failure, and mental retardation. Typically, individuals with deletion 3p syndrome have terminal deletions that result in loss of material from 3p25 to 3pter. We present a child with a clinical phenotype consistent with deletion 3p syndrome (ptosis, microcephaly, growth retardation, and developmental delay) and a subtle interstitial deletion in the distal portion of the short arm of chromosome 3, del(3)(p25.3p26.2). Fluorescence in situ hybridization (FISH) studies using 3p subtelomeric probes confirmed the terminal region of chromosome 3 was present. Sequence tagged sites (STS)‐linked BAC clones mapping to chromosomal region 3p25‐p26 were used to characterize the interstitial deletion by FISH. The results indicate the deletion is within a region of approximately 4.5 Mb between STS markers D3S3630 and D3S1304. This interstitial deletion lies within all previously reported terminal deletions in deletion 3p syndrome individuals, and represents the smallest reported deletion associated with deletion 3p syndrome. Characterization of the deletion may help identify genes important to growth and development that contribute to the deletion 3p syndrome phenotype when present in a hemizygous state. © 2002 Wiley‐Liss, Inc.
Familial complex chromosomal rearrangement resulting in a recombinant chromosome
Authors: Berend Sue Ann , Bodamer Olaf A.F. , Shapira Stuart K. , Shaffer Lisa G. , Bacino Carlos A.
Published: August 2002

Familial complex chromosomal rearrangements (CCRs) are rare and tend to involve fewer breakpoints and fewer chromosomes than CCRs that are de novo in origin. We report on a CCR identified in a child with congenital heart disease and dysmorphic features. Initially, the child's karyotype was thought to involve a straightforward three‐way translocation between chromosomes 3, 8, and 16. However, after analyzing the mother's chromosomes, the mother was found to have a more complex rearrangement that resulted in a recombinant chromosome in the child. The mother's karyotype included an inverted chromosome 2 and multiple translocations involving chromosomes 3, 5, 8, and 16. No evidence of deletion or duplication that could account for the clinical findings in the child was identified. © 2002 Wiley‐Liss, Inc.
Familial aggregation of dyslexia phenotypes. II: Paired correlated measures
Authors: Hsu Li , Wijsman Ellen M. , Berninger Virginia W. , Thomson Jennifer B. , Raskind Wendy H.
Published: August 2002

Dyslexia is a common and complex behavioral disorder characterized by unexpected difficulty in learning to read. Psychometric measures used to assess dyslexia often evaluate overlapping processes or abilities. To identify subphenotypes amenable to model‐based linkage analyses, we have used careful language phenotyping, familial aggregation analyses of single phenotype measures, and segregation analyses. In the current study, to identify covariates to use in future segregation analyses we examined six pairs of related measures selected from among the most promising candidates in the initial aggregation analyses whose aggregation patterns were most consistent with a genetic basis. For these reciprocal aggregation analyses each measure is evaluated with the paired measure as the covariate to obtain information about the interdependence of the paired measures on shared genetic factors. Six pairs of measures were evaluated: 1) accuracy and efficiency of phonological decoding; 2) phonological nonword memory and written spelling; 3) phonological decoding accuracy and written spelling; 4) inattention ratings and rapid automatized naming for switching letters and numerals (RAS); 5) inattention ratings and oral reading rate; and 6) RAS and oral reading rate. Results of these analyses provide evidence that there may be a genetic contribution to efficiency of phonological decoding in addition to the genetic contribution it shares with accuracy of phonological decoding, a genetic contribution to phonological nonword memory in addition to the genetic contribution it shares with written spelling, a genetic contribution to written spelling in addition to the genetic contribution it shares with accuracy of phonological decoding, and a genetic contribution to inattention ratings in addition to the genetic contribution it shares with either RAS or oral reading rate. © 2002 Wiley‐Liss, Inc.
Can phenology explain the scarcity of folivory in New World primates?
Authors: Heymann Eckhard W.
Published: August 2002

I evaluated the hypothesis that the scarcity of folivorous neotropical primate taxa is due to fruiting and leafing occurring in phase in the New World. I compiled phenological information from different primatological studies, and correlated patterns of fruiting and leafing. Contrary to the prediction of the hypothesis, at most sites there was no synchronization of fruiting and leafing. Thus, the scarcity of folivorous platyrrhine taxa can not be attributed to specific phenological patterns of the neotropics. Some potential alternative hypotheses are suggested. Am. J. Primatol. 55:171–175, 2001. © 2001 Wiley‐Liss, Inc.
Middle Eocene primate tarsals from China: Implications for haplorhine evolution
Authors: Gebo Daniel L. , Dagosto Marian , Beard K. Christopher , Qi Tao
Published: August 2002

We describe tarsal remains of primates recovered from the Middle Eocene (∼45 mya) Shanghuang fissures in southern Jiangsu Province, China. These tarsals document the existence of four higher‐level taxa of haplorhine primates and at least two adapid species. The meager and poorly preserved adapid material exhibits some similarities to European adapines like Adapis. The haplorhine primates are divided into two major groups: a “prosimian group” consisting of Tarsiidae and an unnamed group that is anatomically similar to Omomyidae; and an “anthropoid group“ consisting of Eosimiidae and an unnamed group of protoanthropoids. The anthropoid tarsals are morphologically transitional between omomyids (or primitive haplorhines) and extant telanthropoids, providing the first postcranial evidence for primates which bridge the prosimian‐anthropoid gap. All of the haplorhines are extremely small (most are between 50–100 g), and the deposits contain the smallest euprimates ever documented. The uniqueness of this fauna is further highlighted by the fact that no modern primate community contains as many tiny primates as does the fauna from Shanghuang. Am J Phys Anthropol 116:83–107, 2001. © 2001 Wiley‐Liss, Inc.
Venous oxygen levels during aerobic forearm exercise: An index of impaired oxidative metabolism in mitochondrial myopathy
Authors: Taivassalo Tanja , Abbott Amy , Wyrick Phil , Haller Ronald G.
Published: August 2002

A cardinal feature of impaired skeletal muscle oxidative metabolism in mitochondrial myopathies is a limited ability to increase the extraction of O2 from blood relative to the increase in O2 delivery by the circulation during exercise. We investigated whether aerobic forearm exercise would result in an abnormal increase in venous effluent O2 in patients with impaired skeletal muscle oxidative phosphorylation attributable to mitochondrial disease. We monitored the partial pressure of O2 (PO2) in cubital venous blood at rest, during handgrip exercise, and during recovery in 13 patients with mitochondrial myopathy and exercise intolerance and in 13 healthy control and 11 patient control subjects. Resting and recovery venous effluent PO2 were similar in all subjects, but during exercise venous PO2 paradoxically rose in mitochondrial myopathy patients from 27.2 ± 4.0mmHg to 38.2 ± 13.3mmHg, whereas PO2 fell from 27.2 ± 4.2mmHg to 24.2 ± 2.7mmHg in healthy subjects and from 27.4 ± 9.5mmHg to 22.2 ± 5.2mmHg in patient controls. The range of elevated venous PO2 during forearm exercise in mitochondrial myopathy patients (32 to 82mmHg) correlated closely with the severity of oxidative impairment as assessed during cycle exercise. We conclude that measurement of venous PO2 during aerobic forearm exercise provides an easily performed screening test that sensitively detects impaired O2 use and accurately assesses the severity of oxidative impairment in patients with mitochondrial myopathy and exercise intolerance.
Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis
Authors: Corcia Philippe , Mayeux‐Portas Véronique , Khoris Jawad , de Toffol Bertrand , Autret Alain , Müh Jean‐Pierre , Camu William , Andres Christian , the French ALS Research Group
Published: August 2002

The etiology of amyotrophic lateral sclerosis remains unknown in the majority of cases. Homozygous SMN1 (survival motor neuron) gene deletion causes spinal muscular atrophy, and SMN2 gene deletions are possible risk factors in lower motor neuron disease. We studied SMN1 and SMN2 genes copy numbers in 167 amyotrophic lateral sclerosis patients and in 167 matched controls. We noted that 16% of amyotrophic lateral sclerosis patients had an abnormal copy number of the SMN1 gene (1 or 3 copies), compared with 4% of controls. An abnormal SMN1 gene locus may be a susceptibility factor for amyotrophic lateral sclerosis.
Verbal memory in left temporal lobe epilepsy: Evidence for task‐related localization
Authors: Weintrob David L. , Saling Michael M. , Berkovic Samuel F. , Berlangieri Salvatore U. , Reutens David C.
Published: August 2002

We explored the hypothesis that components of verbal memory are subserved by separate temporal lobe structures in patients with temporal lobe epilepsy. Uptake of 18F‐fluorodeoxyglucose (FDG) measured by positron emission tomography, hippocampal volume, and memory for arbitrarily and semantically related verbal paired associates were examined in 27 patients with left temporary lobe epilepsy. Scores from memory tests performed outside the scanner were regressed against normalized resting FDG uptake at each voxel. Significant regression was seen in the left perirhinal cortex (Talaraich coordinates x, y, z: −29, 10, −34; p < 0.05) for arbitrarily related word pairs. For semantically related paired associates, significant regression was present in the left inferior temporal gyrus (x, y, z: −48, −18, −24; p < 0.05). In subsequent analyses, mean FDG uptake within a spherical region of interest centered on the perirhinal peak predicted performance on both tasks. Mean FDG uptake in a region of interest centered on the inferior temporal peak made an additional, independent contribution to memory for semantically related pairs. Hippocampal volumes did not explain any additional variance in memory scores. Our findings indicate that heterogeneity in the left temporal lobe structures mediating verbal memory function, and support the view that the perirhinal cortex is an important mnemonic substrate.
Matrix metalloproteinases and their tissue inhibitors as markers of disease subtype and response to interferon‐β therapy in relapsing and secondary‐progressive multiple sclerosis patients
Authors: Galboiz Yanina , Shapiro Sarah , Lahat Nitza , Rawashdeh Hannah , Miller Ariel
Published: August 2002

Matrix metalloproteinases (MMPs) have recently been implicated in the pathogenesis of multiple sclerosis. Their suggested role includes the disruption of the blood–brain barrier, immune cell transmigration into the central nervous system, and myelin degradation. The present study characterized the mRNA level of a wide spectrum of MMPs and tissue inhibitors of metalloproteinases (TIMPs) expressed by peripheral blood leukocytes from relapsing‐remitting (n = 16) and secondary‐progressive (n = 12) multiple sclerosis patients. The expression of the same MMPs and TIMPs was evaluated also in a prospective 12‐month follow‐up of 6 patients randomly chosen from each of the 2 groups during interferon‐β‐1a treatment. Reverse transcription‐polymerase chain reaction assessment demonstrated elevated levels of MT1‐MMP and MMP‐7 mRNA levels in both groups of patients, and no significant differences in MMP‐9 levels, compared with healthy controls. Divergent expression of MMP‐2 between relapsing‐remitting and secondary‐progressive patients compared with controls was observed. IFN‐β treatment was associated with significant suppression of MMP‐9 and MMP‐7 mRNA in relapsing‐remitting patients, though no significant changes were observed in the secondary‐progressive group. These results contribute to the understanding of the interferon‐β‐mediated immunomodulatory and therapeutic effects in multiple sclerosis patients and also support evidence for distinct immune mechanism(s) underlying relapsing‐remitting‐ versus secondary‐progressive multiple sclerosis. The study also suggests that MMPs may be considered as potential biomarkers for response to treatment as well as targets for immunotherapy in multiple sclerosis.
Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene
Authors: Wibrand Flemming , Ravn Kirstine , Schwartz Marianne , Rosenberg Thomas , Horn Nina , Vissing John
Published: August 2002

Mitochondrial cytochrome b mutations have been reported to have a homogenous phenotype of pure exercise intolerance. We describe a novel mutation in the cytochrome b gene of mitochondrial DNA (A15579G) associated with a selective decrease of muscle complex III activity in a patient who, besides severe exercise intolerance, also has multisystem manifestations (deafness, mental retardation, retinitis pigmentosa, cataract, growth retardation, epilepsy). The point mutation is heteroplasmic in muscle (88%) and leukocytes (15%), and changes a highly conserved tyrosine to cysteine at amino acid position 278.
Comparison of extraction procedures for arsenic speciation in environmental solid reference materials by high‐performance liquid chromatography–hydride generation‐atomic fluorescence spectroscopy
Authors: Montperrus M. , Bohari Y. , Bueno M. , Astruc A. , Astruc M.
Published: August 2002

Water and ‘soft’ extractions (hydroxylammonium hydrochloride, ammonium oxalate and orthophosphoric acid) have been studied and applied to the determination of arsenic species (arsenite, arsenate, monomethylarsonic acid (MMA) and dimethylarsinic acid (DMA)) in three environmental solid reference materials (river sediment, agricultural soil, sewage sludge) certified for their total arsenic content. The analytical method used was ion exchange liquid chromatography coupled on‐line to atomic fluorescence spectroscopy through hydride generation. Very low detection limits for arsenic were obtained, ranging from 0.02 to 0.04 mg kg−1 for all species in all matrices studied. Orthophosphoric acid is the best extractant for sediment (mixed origin) and sludge samples (recent origin) but not for the old formation soil sample, from which arsenic is extracted well only by oxalate. Both inorganic forms (As(III) and As(V)) are significant in all samples, As(V) species being predominant. Moreover, organic forms are found in water extracts of all samples and are more important in the sludge sample. These organic forms are also present in the ‘soft’ extracts of sludge. Microwave‐assisted extraction appears to minimize the risk of a redox interconversion of inorganic arsenic forms. This study points out the necessity of combining direct and sequential extraction procedures to allow for initial arsenic speciation and to elucidate the different mineralogical phases–species associations. Copyright © 2002 John Wiley & Sons, Ltd.
Ion aggregation in the polysiloxane ionomers bearing pendant quaternary ammonium groups
Authors: Huang Zuoxin , Yu Yunzhao , Huang Ying
Published: August 2002

Polysiloxane ionomers bearing pendant quaternary ammonium groups were synthesized through the Menshutkin reaction of poly(γ‐chloropropylmethylsiloxane‐co‐dimethylsiloxane) with N,N‐dimethylbenzylamine. Ion aggregation in the ionomers with different contents of the quaternary ammonium groups was investigated by torsion braid analysis, transmission electron microscopy, and rheological measurements. It was found that the incorporation of the quaternary ammonium groups did not make a significant effect on the glass transition temperature of the polysiloxane matrix. The glass transition of the cluster phase was found in the range of −20–40°C, depending on the concentration of the ion pair. The cluster phase was visualized under TEM when the concentration of the quaternary ammonium group exceeded a critical value. It was indicated by rheological data that the movement of polymer chains in the cluster phase of the polysiloxane ionomers was not restricted at the room temperature, which might be related to the weaker interaction between the bulky quaternary ammonium ion pairs. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 83: 3099–3104, 2002; DOI 10.1002/app.10009
Application of a linear synthetic polymer to improve the properties of cellulose fibers made by the NMMO process
Authors: Lewandowski Z.
Published: August 2002

Low‐molecular polyethylene (LMPE) as an internal flexibilizer was selected to improve the spinnability of cellulose solution in N‐methylmorpholine‐N‐oxide (NMMO). It is compatible with the conditions of cellulose dissolution and fiber spinning because of its chemical stability and melting point. In the course of rheological investigations, it was proven that this modification has a physical characteristic. Cross sections of the fibers reveal that cellulose–LMPE forms a two‐phase system with randomly distributed LMPE domains and a dominant skin‐core structure. The addition of 5% LMPE is enough to improve significantly the mechanical properties of the fibers. An increase of LMPE above 5% worsens these properties, because LMPE is not a fiber‐forming polymer. With the use of spinnerets with suitable dimensions, it is possible to obtain cellulose fibers with mechanical properties similar to those of synthetic fibers. The retention of water is lowered by the hydrophobic polyethylene polymer; however, it is high enough to retain the hydrophilic character of cellulose fibers. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 83: 2762–2773, 2002; DOI 10.1002/app.10227