bluuebunny/crossref_metadata_2025_split huggingface dataset:
The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment
Authors: Robinson C. , Baker N. , Noble J. , King A. , David G. , Sillence D. , Hofman P. , Cundy T. 
Published: April 2003

AbstractSummary: Mucolipidosis type III (ML III; McKusick 252600) is a rare lysosomal storage disease in which skeletal involvement is prominent, in particular the destruction of vertebral bodies and the femoral heads. We describe studies in two siblings with ML III that suggest the presence of a distinct metabolic bone disorder. Biochemical indices of bone turnover were increased, and transiliac bone biopsy demonstrated both trabecular osteopenia and marked subperiosteal bone resorption. Intravenous pamidronate treatment given monthly for a year was well tolerated and produced dramatic clinical effects, with reduction in bone pain and improvements in mobility, despite incomplete suppression of bone resorption as assessed by biochemical, radiographic and histological criteria. Bisphosphonate therapy may have an important role in the management of bone pain in ML III, as it does in the related lysosomal disorder of Gaucher disease.
Client Perceptions of the Impact of Genetic Counseling: An Exploratory Study
Authors: Veach Patricia McCarthy , Truesdell Sarah E. , LeRoy Bonnie S. , Bartels Dianne M. 
Published: April 2003

AbstractTwenty‐eight former genetic counseling clients seen at a major Midwestern university were recruited to be interviewed about their genetic counseling experiences, including most and least helpful aspects, what they learned, how this information impacted their decision‐making, and their perceptions of their genetic counselors' behaviors. Responses were inductively analyzed, and several themes were identified, including: Clients sought genetic counseling to obtain genetic‐medical information; a majority accurately recalled this information; genetic counseling influenced decisions for about 50% of the sample; decision‐making was affected by several extra‐session factors; a majority experienced distress during the session; most perceived genetic counselor responses as nondirective and liked this approach; counselor behaviors regarded as directive involved discussion of pregnancy termination; participants disagreed about the need for and provision of genetic counselor support; most regarded the session as helpful and stated that they would seek genetic counseling again. Suggestions for addressing these issues in practice and research are given.
Psychological Aspects of Genetic Counseling: XIII. Empathy and Decency
Authors: Kessler Seymour 
Published: April 2003

AbstractThe issues confronting genetic counselees, the demands of the “new genetics” and other factors suggest strongly the need for greater attention to counseling procedures which convey understanding of clients and help them feel more hopeful and more capable of dealing with their life problems. This should include interventions to help them feel more effective in their coping efforts as well as such ego‐bolstering techniques as the expression of kindness, the provision of appropriate rewards, and other attempts to raise the client's self‐esteem. These attempts should be a standard part of all genetic counseling. The traditional arguments of potential harm and time limitations often used to avoid counseling efforts are viewed through the lens of countertransference.
Case Report—Loyalty, Legacy, and Ledger: Contextual Therapy in a Patient with a Family History of Ovarian Cancer
Authors: Brown Tamsen Caruso , Garber Judy , Muto Michael , Schneider Katherine A. 
Published: April 2003

AbstractA client's emotional experiences and reactions to those experiences are influenced by his/her family of origin and direct or indirect interactions with various family members. Contextual therapists propose that a client's satisfaction with a relationship depends on the equity of his/her emotional interactions with family members. When relationships are inequitable, trust between individuals disintegrates. In order to reestablish trust in a relationship, a balance of interests must be restored. If not, imbalances may be passed down to future generations. A case of a woman with a family history of ovarian cancer is reviewed with the principles of contextual therapy in mind. In her family, several legacies have resulted in unbalanced relationships between family members that lead to difficulty in establishing trust within the genetic counseling session.
Genetic Testing Considerations in Breast Cancer Patients
Authors: France Liz , Gray Jonathon , Elwyn Glyn , Tischkowitz Mark , Brain Kate , Sampson Julian , Anglim Cathy , Clarke Angus , Parsons Evelyn , Sweetland Helen , Mansel Robert , Barrett‐Lee Peter , Harper Peter 
Published: April 2003

AbstractGenetic testing is now feasible for a growing number of cancers. Although the implications for unaffected relatives have been widely described, the impact of the tests on affected individuals are often not recognized. We present and discuss four cases that highlight some of the issues—for example, feelings of guilt and anxiety, intrafamilial conflict, and support needs—that may arise in testing affected individuals. We offer some suggestions to aid in the approach to such testing.
Understanding, Resisting, and Overcoming Oppression: Toward Psychopolitical Validity
Authors: Prilleltensky Isaac 
Published: April 2003

AbstractMy first objective in this paper is to synthesize, synoptically, the literature on oppression and liberation with the contributions to this special issue. To fulfil this aim I introduce a framework for understanding, resisting, and overcoming oppression. The framework consists of psychopolitical well‐being; experiences, consequences, and sources of oppression; and actions toward liberation. Each of these components is subdivided into 3 domains of oppression and well‐being: collective, relational, and personal. Experiences of suffering as well as resistance and agency are part of the framework. My second objective is to offer ways of closing the gap between research and action on oppression and liberation. To do so I suggest 2 types of psychopolitical validity: epistemic and transformative.
Narrating Survival and Change in Guatemala and South Africa: The Politics of Representation and a Liberatory Community Psychology
Authors: Lykes M. Brinton , Blanche Martin Terre , Hamber Brandon 
Published: April 2003

AbstractPeace accords and international interventions have contributed to the suspension of armed conflict and the censuring of repressive regimes in many parts of the world. Some governments and their opposition parties have agreed to the establishment of commissions or other bodies designed to create historical records of the violations of human rights and foster conditions that facilitate reparatory and reconciliatory processes. This paper explores selected roles that community psychologists have played in this process of remembering the past and constructing new identities towards creating a more just future. With reference to two community groups (in Guatemala and South Africa) we show how efforts to “speak out” about one's own experiences of political and military repression involve complex representational politics that go beyond the simple binary opposition of silencing versus giving voice. The Guatemalan group consisted of Mayan Ixil women who, together with the first author, used participatory action research and the PhotoVoice technique to produce a book about their past and present struggles. The South African group, working within the ambit of the Truth and Reconciliation Commission and in collaboration with the third author and others, explored ways of speaking about their roles in apartheid and post‐apartheid society. Although both these initiatives can be seen as moments in on‐going struggles to overcome externally‐imposed repressive practices that censor the voices of marginalized communities, they also serve to dispel overly romanticized notions of “univocal” communities now liberated to express themselves in an unmediated and unequivocal fashion. The paper discusses how each group of women instead entered into subtly nuanced relationships with community psychologists involving a continual interplay between the authenticity of their self‐representational accounts and the requirements of the discursive technologies into which they were being inducted and the material conditions within their sites of struggle. In both cases the group's agenda also evolved over time, so that what emerged was not so much a particular account of themselves, or even the development of a particular “voice” for speaking about themselves, but an unfolding process—for the groups and for the community psychologists who accompanied them—of becoming active players in the postmodern, mediated world of self‐representational politics and social struggle.
Comparative mammalian choline metabolism with emphasis on the high-yielding dairy cow
Authors: Pinotti L , Baldi A , Dell'Orto V 
Published: April 2003

AbstractThe present review examines the importance of choline in dairy cow nutrition. Choline is an essential nutrient for mammals when excess methionine and folate are not available in the diet. The requirement for choline can be met by dietary choline and by transmethylation reactions. Two types of functions for choline are known: functions of cholineper se; functions as a methyl donor. The two principal methyl donors in animal metabolism are betaine, a metabolite of choline, and S-adenosyl-methionine, a metabolite of methionine. Choline and methionine are interchangeable with regard to their methyl group-furnishing functions. In adult ruminants, choline is extensively degraded in the rumen; for this reason dietary choline contributes insignificantly to the choline body pool and methyl group metabolism is generally conservative with a relatively low rate of methyl catabolism and an elevated rate ofde novosynthesis of methyl groups via the tetrahydrofolate system. In dairy ruminants, the dietary availability of choline is still low, but the output of methylated compounds in milk is high, and precursors from the tetrahydrofolate pathway are limiting, especially at the onset of lactation. Therefore choline may be a limiting nutrient for milk production in high-yielding dairy cows.
Drug-Susceptible
Mycobacterium tuberculosis
Beijing Genotype Does Not Develop Mutation-Conferred Resistance to Rifampin at an Elevated Rate
Authors: Werngren Jim , Hoffner Sven E. 
Published: April 2003

ABSTRACT

The
Mycobacterium tuberculosis
Beijing genotype has drawn attention because it is often strongly associated with multidrug-resistant tuberculosis (MDR-TB). A possible reason is that the Beijing strains may have an enhanced capacity to develop drug resistance. In this study, we used the Luria-Delbrück fluctuation test to investigate whether strains of Beijing and non-Beijing genotypes exhibit differences in the acquisition of drug resistance. The
M
.
tuberculosis
reference strain H37Rv and 12 fully drug-susceptible clinical isolates, 6 of which were of the Beijing genotype, were examined. To determine the distribution of rifampin-resistant mutants, 25 independent cultures were made for each strain. The average mutation frequencies for the non-Beijing (H37Rv included) and Beijing genotypes were estimated to be 4.4 × 10
−8
and 3.6 × 10
−8
, respectively. The corresponding average mutation rates for the non-Beijing and Beijing strains were 1.3 × 10
−8
and 1.1× 10
−8
mutations per cell division, respectively. The results suggest that the association of the Beijing genotype with MDR-TB is not due to an altered ability to develop resistance.
Performance Characteristics of the TRUGENEHIV-1Genotyping Kit and the Opengene DNA Sequencing System
Authors: Kuritzkes Daniel R. , Grant Robert M. , Feorino Paul , Griswold Marshal , Hoover Marie , Young Russell , Day Stephen , Lloyd, Robert M. , Reid Caroline , Morgan Gillian F. , Winslow Dean L. 
Published: April 2003

ABSTRACTThe TRUGENEHIV-1Genotyping Kit and OpenGene DNA Sequencing System are designed to sequence the protease (PR)- and reverse transcriptase (RT)-coding regions of human immunodeficiency virus type 1 (HIV-1)pol. Studies were undertaken to determine the accuracy of this assay system in detecting resistance-associated mutations and to determine the effects of RNA extraction methods, anticoagulants, specimen handling, and potentially interfering substances. Samples were plasma obtained from HIV-infected subjects or seronegative plasma to which viruses derived from wild-type and mutant infectious molecular clones (IMC) of HIV-1 were added. Extraction methods tested included standard and UltraSensitive AMPLICOR HIV-1 MONITOR, QIAGEN viral RNA extraction mini kit, and QIAGEN Ultra HIV extraction kit, and NASBA manual HIV-1 quantitative NucliSens. Sequence data from test sites were compared to a “gold standard” reference sequence to determine the percent agreement. Comparisons between test and reference sequences at the nucleotide level showed 97.5 to 100% agreement. Similar results were obtained regardless of extraction method, regardless of use of EDTA or acid citrate dextrose as anticoagulant, and despite the presence of triglycerides, bilirubin, hemoglobin, antiretroviral drugs, HIV-2, hepatitis C virus (HCV), HBV, cytomegalovirus, human T-cell leukemia virus type 1 (HTLV-1), or HTLV-2. Samples with HIV-1 RNA titers of ≥1,000 copies/ml gave consistent results. The TRUGENEHIV-1Genotyping Kit and OpenGene DNA Sequencing System consistently generate highly accurate sequence data when tested with IMC-derived HIV and patient samples.
In Vitro Susceptibility Testing of Four Antibiotics against
Borrelia burgdorferi
: a Comparison of Results for the Three Genospecies
Borrelia afzelii
,
Borrelia garinii
, and
Borrelia burgdorferi
Sensu Stricto
Authors: Sicklinger Martin , Wienecke Ralf , Neubert Uwe 
Published: April 2003

ABSTRACT

MICs and minimal bactericidal concentrations (MBCs) were evaluated for the four antibiotics azithromycin, amoxicillin, ceftriaxone, and doxycycline against the three main genospecies of
Borrelia burgdorferi
sensu lato. In MBC testing, statistically significant differences between the genospecies could be found in 7 out of 12 comparative evaluations (
P
< 0.05).
Mycetoma of the Foot Caused byFusarium solani: Identification of the Etiologic Agent by DNA Sequencing
Authors: Yera H. , Bougnoux M. E. , Jeanrot C. , Baixench M. T. , De Pinieux G. , Dupouy-Camet J. 
Published: April 2003

ABSTRACTWe report a case ofFusarium solanimycetoma of the foot that could not be diagnosed by culture, but was correctly identified after amplification and sequence analysis of fungal internal transcribed spacers 1 and 2 and 5.8S ribosomal DNA regions.
A unified approach to the study of tail probabilities of compound distributions
Authors: Cai Jun , Garrido José 
Published: April 2003

We consider the tail probabilities of a class of compound distributions. First, the relations between reliability distribution classes and heavy-tailed distributions are discussed. These relations reveal that many previous results on estimating the tail probabilities are not applicable to heavy-tailed distributions.Then, a generalized Wald's identity and identities for compound geometric distributions are presented in terms of renewal processes. Using these identities, lower and upper bounds for the tail probabilities are derived in a unified way for the class of compound distributions, both under the conditions of NBU and NWU tails, which include exponential tails, as well as under the condition of heavy-tailed distributions.Finally, simplified bounds are derived by the technique of stochastic ordering. This method removes some unnecessary technical assumptions and corrects errors in the proof of some previous results.
Understanding brachiation: insight from a collisional perspective
Authors: Usherwood James R. , Bertram John E. A. 
Published: April 2003

SUMMARY
Gibbons are able to brachiate effectively through the forest canopy with a suspended swinging motion via contact with handholds. The swing phase is unlikely to be a cause of significant energy loss as pendulums are able to oscillate with only gradual mechanical energy dissipation. We consider the energetics associated with the transition of either a swing (during continuous-contact brachiation) or a ballistic flight (ricochetal brachiation)to a subsequent swing. In both styles of brachiation, kinematic data suggest that a gibbon overshoots the path that would allow a smooth transition into the swing phase. The sudden change in velocity due to such an overshoot is associated with a collision. Assuming neither the handhold nor the gibbon stores elastic strain energy, the energetic consequences of such overshoots can be calculated.
We suggest two reasons for overshooting smooth transition trajectories: in the case of continuous contact brachiation, excess mechanical energy can be maintained with a high amplitude swing, and an overshoot during ricochetal brachiation produces a safety margin.
The degree of energy loss with the transition to the swing phase is dependent both on the alignment of the pre- and post-transition paths, and on the kinetic energy at that instant. Active mechanisms reduce the effects of overshoots in both brachiation gaits. During continuous-contact brachiation,the path of the centre of mass can be controlled actively by flexion both of the trailing arm and the legs. During ricochetal brachiation, the length between the hand and the centre of mass (determining the subsequent swing path) can be controlled throughout the flight phase with leg flexion/extension. In addition, the elongated arms characteristic of gibbons improves the geometry of a collision for a given overshoot, and so may be viewed as a morphological adaptation reducing the energetic losses caused by overshooting for safety.
Plasma membrane rafts of rainbow trout are subject to thermal acclimation
Authors: Zehmer John K. , Hazel Jeffrey R. 
Published: April 2003

SUMMARY
Rafts are cholesterol- and sphingolipid-enriched microdomains of the plasma membrane (PM) that organize many signal transduction pathways. Interactions between cholesterol and saturated lipids lead to patches of liquid-ordered membrane (rafts) phase-separating from the remaining PM. Phase behavior is temperature sensitive, and acute changes in temperature experienced by poikilotherms would be expected to perturb raft structure, necessitating an acclimatory response. Therefore, with thermal acclimation, we would expect compositional changes in the raft directed to offset this perturbation. Using differential and density gradient centrifugation, we separated PM from the livers of rainbow trout acclimated to 5°C and 20°C into raft-enriched(raft) and raft-depleted PM (RDPM). Compared with RDPM, the raft fractions were enriched in cholesterol, the β2-adrenergic receptor and adenylyl cyclase, which are commonly used markers for this microdomain. Furthermore, cholesterol was enriched in all fractions from warm-compared with cold-acclimated animals, but this increase was 3.4 times greater in raft than in PM. We developed a novel approach for measuring membrane molecular interaction strength (and thus the tendency to stabilize raft structure) based on the susceptibility of membranes to detergent. Specifically, studies with model vesicles demonstrated that the capacity of a membrane to accommodate detergent prior to solubilization (saturation point) was a good index of this property. The saturation point of the isolated membrane preparations was temperature sensitive and was significantly different in 5°C- and 20°C-acclimated RDPM when assayed at 5°C and 20°C, respectively. By contrast, this comparison in rafts was not significantly different,suggesting compensation of this property. These data suggest that compositional changes made in the PM during thermal acclimation act to offset thermal perturbation of the raft but not the RDPM structural integrity.
Tolerance of chronic hypercapnia by the European eelAnguilla anguilla
Authors: McKenzie D. J. , Piccolella M. , Valle A. Z. Dalla , Taylor E. W. , Bolis C. L. , Steffensen J. F. 
Published: April 2003

SUMMARYEuropean eels were exposed for 6 weeks to water CO2 partial pressures (PCO2) from ambient (approx. 0.8 mmHg), through 15±1 mmHg and 30±1 mmHg to 45±1 mmHg in water with a total hardness of 240 mg l–1 as CaCO3, pH 8.2, at 23±1°C. Arterial plasma PCO2 equilibrated at approximately 2 mmHg above water PCO2 in all groups, and plasma bicarbonate accumulated up to 72 mmol l–1 in the group at a water PCO2 of 45 mmHg. This was associated with an equimolar loss of plasma Cl–, which declined to 71 mmol l–1 at the highest water PCO2. Despite this, extracellular acid–base compensation was incomplete; all hypercapnic groups tolerated chronic extracellular acidoses and reductions in arterial blood O2 content (CaO2), of progressive severity with increasing PCO2. All hypercapnic eels, however, regulated the intracellular pH of heart and white muscle to the same levels as normocapnic animals. Hypercapnia had no effect on such indicators of stress as plasma catecholamine or cortisol levels, plasma osmolality or standard metabolic rate. Furthermore, although CaO2 was reduced by approximately 50% at the highest PCO2, there was no effect of hypercapnia on the eels' tolerance of hypoxia, aerobic metabolic scope or sustained swimming performance. The results indicate that, at the levels tested, chronic hypercapnia was not a physiological stress for the eel, which can tolerate extracellular acidosis and extremely low Cl–levels while compensating tissue intracellular pH, and which can meet the O2 requirements of routine and active metabolism despite profound hypoxaemia.
Oral‐facial‐digital syndrome gabrielli type: Second report
Authors: Obregón Maria Gabriela , Barreiro Cristina Zulema 
Published: April 2003

AbstractWe describe a second sporadic case, a girl, with the features of Oral‐Facial‐Digital, type Gabrielli. We comment on several aspects of this condition and confirm this entity as a unique syndrome, different from the other OFDS. To date, the diagnosis is based only on clinical and radiographic findings. © 2003 Wiley‐Liss, Inc.
Prenatal detection of rare chromosomal autosomal abnormalities in Europe
Authors: Baena N. , De Vigan C. , Cariati E. , Clementi M. , Stoll C. , Caballin M.R. , Guitart M. 
Published: April 2003

AbstractThe aim of the present study was to evaluate the prenatal detection of rare chromosomal autosomal abnormalities by ultrasound (US) examination. Data were obtained from 19 congenital malformation registries from 11 European countries, between 01/07/96 and 31/12/98. A total of 664,340 births were covered and 7,758 cases with congenital malformations were recorded. Rare autosomal abnormalities were diagnosed in 114 cases (6.6%) from a total of 1,738 chromosome abnormalities. There were a wide variety of autosomal abnormalities: the most common were deletions (33 cases), duplications (32 cases), trisomies of chromosomes 8, 9, 10, 14, 15, and 16 (23 cases), and unbalanced rearrangements (19 cases). Out of these cases, 45.6% were detected prenatally by US examination due to the presence of congenital anomaly. As for the types of chromosomal anomaly, unbalanced rearrangements and deletions were the most frequently detected by US. A high percentage of cases with balanced rearrangements were associated with severe congenital anomalies. The most frequent congenital anomalies detected by US were cystic hygroma (20.6%), central nervous system defects (17.6%), cardiac defects (13.2%), and diaphragm defects (10.3%). This large series offers useful information about prenatal diagnosis by US of congenital defects associated with rare autosomal abnormalities and it provides a valuable knowledge about outcome. Fetal anomalies detected by US that were associated with rare autosomal abnormalities were significantly more frequent than those associated with common chromosomal abnormalities (45.6 vs. 34.7%). This study indicates the need to increase the detection of congenital anomalies by US. © 2003 Wiley‐Liss, Inc.