bluuebunny/crossref_metadata_2025_split huggingface dataset:
Myoclonic tremulous movements in multiple system atrophy are a form of cortical myoclonus
Authors: Okuma Yasuyuki , Fujishima Kenji , Miwa Hideto , Mori Hideo , Mizuno Yoshikuni 
Published: January 2005

AbstractWe prospectively studied the clinical and electrophysiological features of myoclonic tremulous movements in patients with multiple system atrophy (MSA). Among 42 consecutive patients, 12 MSA‐p (parkinsonian type) and 3 MSA‐c (cerebellar type) patients showed small‐amplitude myoclonic movements. These movements occurred in the distal part of the arms and fingers, particularly in posture or during voluntary movements. We conducted detailed electrophysiological studies in 11 patients. Electromyographic recordings showed irregular bursts of brief duration often synchronously involving the antagonistic muscles. Somatosensory evoked responses were slightly enlarged in some patients. Long‐latency reflexes were enhanced in 7 patients. A jerk‐locked averaging technique revealed premyoclonic cortical potentials in 9 patients. These findings suggest that small‐amplitude myoclonic movements in MSA are a form of cortical myoclonus. © 2004 Movement Disorder Society
Effects of different electrical parameter settings on the intelligibility of speech in patients with Parkinson's disease treated with subthalamic deep brain stimulation
Authors: Törnqvist Anna Lena , Schalén Lucyna , Rehncrona Stig 
Published: January 2005

AbstractWe evaluated the effects of different electrical parameter settings on the intelligibility of speech in patients with Parkinson's disease (PD) bilaterally treated with deep brain stimulation (DBS) in the subthalamic nucleus (STN). Ten patients treated with DBS for 15 ± 5 months (mean, SD) with significant (P < 0.01) symptom reduction (Unified Parkinson's Disease Rating Scale III) were included. In the medication off condition, video laryngostroboscopy was performed and then, in random order, 11 DBS parameter settings were tested. Amplitude was increased and decreased by 25%, frequency was varied in the range 70 to 185 pps, and each of the contacts was tested separately as a cathode. The patients read a standard running text and five nonsense sentences per setting. A listener panel transcribed the nonsense sentences as perceived and valued the quality of speech on a visual analogue scale. With the patients' normally used settings, there was no significant (P = 0.058) group difference between DBS OFF and ON, but in four patients the intelligibility deteriorated with DBS ON. The higher frequencies or increased amplitude caused significant (P < 0.02) impairments of intelligibility, whereas changing the polarity between the separate contacts did not. The settings of amplitude and frequency have a major influence on the intelligibility of speech, emphasizing the importance of meticulous parameter adjustments when programming DBS to minimize side effects related to speech. © 2004 Movement Disorder Society
Olfaction testing in patients with tremor‐dominant Parkinson's disease: Is this a distinct condition?
Authors: Ondo William G. , Lai Dejian 
Published: January 2005

AbstractThere is considerable controversy regarding the relationship between essential tremor (ET) and Parkinson's disease (PD), especially when tremor is the dominant feature of PD or there is a family history of tremor. Reduced olfaction function is one of the initial signs of PD. In contrast, ET has relatively preserved olfaction. To infer whether the tremor‐dominant subgroup of PD is intrinsically different from mainstream PD, we tested olfaction using the University of Pennsylvania Smell Identification Test‐40 (UPSIT) in this group and compared the findings with those of patients with non–tremor‐dominant “regular” PD. We then evaluated predictors of reduced UPSIT scores within the tremor‐dominant group. Overall, olfaction did not differ between tremor‐dominant PD and regular PD; however, the subgroup of tremor‐dominant PD with a family history of tremor had less olfaction loss than those without a family history (P = 0.0007) or those with regular PD (P = 0.0350). Other clinical features of this tremor‐dominant PD with a family history of tremor group mostly resembled those without a family history. This finding suggests that patients with a family history of tremor may represent a different disease process even though, aside from differences in olfaction, they are clinically similar to other patients with tremor‐dominant parkinsonism. It additionally suggests phenotypic overlap between PD and ET. © 2004 Movement Disorder Society
The crane's foot: The rise of the pedigree in human genetics
Authors: Resta Robert G. 
Published: January 2005

AbstractThe standard pedigree used by geneticists is intimately connected to the history of genetics. Pedigrees drawn today are based on standards established in the early decades of the twentieth century. Those standards were established by geneticists who pursued an active interest in eugenics. The slightly different standards followed in America vs. England to some extent followed the stronger support of Mendelism by the Americans, as well as the individual preferences of the leading human geneticists in those countries.
The need for developing standardized family pedigree nomenclature
Authors: Bennett R. L. , Steinhaus K. A. , Uhrich S. B. , O'Sullivan C. 
Published: January 2005

AbstractTo assess the variation in usage of symbols used in recording a genetic family history, full members of the National Society of Genetic Counselors were surveyed by questionnaire. The questionnaire return rate was 55.3% and genetic counselors from a broad range of clinical experience, genetic counseling training programs and geographic regions responded. There was striking variation in symbols used for recording routine medical information in a genetic family history (i.e., pregnancy, spontaneous abortion, termination of pregnancy). There was even less consensus in recording situations representing new reproductive technologies (i.e., artificial insemination by donor semen, donor ovum, surrogate motherhood). The results of this survey document the need for developing standardized nomenclature in recording genetic family histories as a quality assurance measure in the delivery of genetic services. Such standardization will reduce the chance of incorrect interpretation of patient and family medical and genetic information.
Toward a new conceptualization and operationalization of risk perception within the genetic counseling domain
Authors: Palmer Christina G. S. , Sainfort François 
Published: January 2005

AbstractThe purpose of this paper is twofold. First, it provides an historical overview of studies of risk, risk perception, and decision making under risk within the genetic counseling domain. Second, it proposes an alternative conceptualization and operationalization for the study of risk perception. The conceptualization involves probability, adversity, incompleteness, and ambiguity. Prior studies of risk perception focus on the recurrence risk and operationalize risk perception by asking for interpretations of the magnitude of the probability of the outcome. Their focus is on the probability of a particular outcome. We formulate the problem in terms of a gamble and suggest that risk perception be operationalized in terms of the riskiness of the gamble. Our focus is on the riskiness of a decision option which entails two or more outcomes.
Mitochondrial DNA Diversity in Indigenous Populations of the Southern Extent of Siberia, and the Origins of Native American Haplogroups
Authors: Starikovskaya Elena B. , Sukernik Rem I. , Derbeneva Olga A. , Volodko Natalia V. , Ruiz‐Pesini Eduardo , Torroni Antonio , Brown Michael D. , Lott Marie T. , Hosseini Seyed H. , Huoponen Kirsi , Wallace Douglas C. 
Published: January 2005

SummaryIn search of the ancestors of Native American mitochondrial DNA (mtDNA) haplogroups, we analyzed the mtDNA of 531 individuals from nine indigenous populations in Siberia. All mtDNAs were subjected to high‐resolution RFLP analysis, sequencing of the control‐region hypervariable segment I (HVS‐I), and surveyed for additional polymorphic markers in the coding region. Furthermore, the mtDNAs selected according to haplogroup/subhaplogroup status were completely sequenced. Phylogenetic analyses of the resulting data, combined with those from previously published Siberian arctic and sub‐arctic populations, revealed that remnants of the ancient Siberian gene pool are still evident in Siberian populations, suggesting that the founding haplotypes of the Native American A‐D branches originated in different parts of Siberia. Thus, lineage A complete sequences revealed in the Mansi of the Lower Ob and the Ket of the Lower Yenisei belong to A1, suggesting that A1 mtDNAs occasionally found in the remnants of hunting‐gathering populations of northwestern and northern Siberia belonged to a common gene pool of the Siberian progenitors of Paleoindians. Moreover, lineage B1, which is the most closely related to the American B2, occurred in the Tubalar and Tuvan inhabiting the territory between the upper reaches of the Ob River in the west, to the Upper Yenisei region in the east. Finally, the sequence variants of haplogroups C and D, which are most similar to Native American C1 and D1, were detected in the Ulchi of the Lower Amur. Overall, our data suggest that the immediate ancestors of the Siberian/Beringian migrants who gave rise to ancient (pre‐Clovis) Paleoindians have a common origin with aboriginal people of the area now designated the Altai‐Sayan Upland, as well as the Lower Amur/Sea of Okhotsk region.
The Contribution of Genetic and Environmental Factors to Quantitative Variability of Erythrocyte Membrane Proteins in Primary Hypotension
Authors: Ivanov V. P. , Polonikov A. V. , Solodilova M. A. 
Published: January 2005

SummaryOur previous studies have shown that, compared with healthy individuals, patients with primary arterial hypotension (PAH) have significant quantitative changes in erythrocyte membrane proteins. The purpose of the present study was to evaluate the contribution made by genetic and environmental factors to quantitative variation of erythrocyte membrane proteins in PAH. We studied 109 hypotensive patients, 124 normotensive subjects, 222 of their first‐degree relatives and 24 twin pairs by sodium dodecyl sulphate (SDS) polyacrylamide gel electrophoresis. The decomposition of total phenotypic variance of erythrocyte membrane proteins to genetic and environmental components was performed on the basis of correlations among first‐degree relatives by the least squares method. The genetic dominance and shared environmental factors were found to influence the variability of cytoskeletal membrane proteins whose contents were changed in PAH. Furthermore, variations in α‐spectrin, actin and anion exchanger in hypotensives were substantially influenced by major gene and maternal effects. Ankyrin 2.1 and actin content was under the control of common underlying genes. Variations in membrane‐associated glutathione‐S‐transferase and tropomyosin were predominantly affected by polygenes. These findings suggest that the putative major genes with pleiotropic effects appear to be involved in the control of quantitative disorders of erythrocyte membrane proteins in primary hypotension.
Comprehensive Cystic Fibrosis Mutation Epidemiology and Haplotype Characterization in a Southern Italian Population
Authors: Castaldo G. , Polizzi A. , Tomaiuolo R. , Cazeneuve C. , Girodon E. , Santostasi T. , Salvatore D. , Raia V. , Rigillo N. , Goossens M. , Salvatore F. 
Published: January 2005

SummaryWe screened the whole coding region of the cystic fibrosis transmembrane regulator (CFTR) gene in 371 unrelated cystic fibrosis (CF) patients from three regions of southern Italy. Forty‐three mutations detected 91.5% of CF mutated chromosomes by denaturing gradient gel electrophoresis analysis, and three intragenic CFTR polymorphisms predicted a myriad of rare mutations in uncharacterized CF chromosomes. Twelve mutations are peculiar to CF chromosomes from southern Italy: R1158X, 4016insT, L1065P and 711+1G>T are present in 6.3% of CF chromosomes in Campania; G1244E and 852del22 are present in 9.6% of CF chromosomes in Basilicata and 4382delA, 1259insA, I502T, 852del22, 4016insT, D579G, R1158X, L1077P and G1349D are frequent in Puglia (19.6% of CF alleles). Several mutations frequently found in northern Italy (e.g., R1162X, 711+5G>T) and northern Europe (e.g., G551D, I507del and 621+1G>T) are absent from the studied population. The I148T‐3195del6 complex allele was present in two CF chromosomes, whereas I148T was present in both alleles (as a single mutation) in another CF patient and in five CF carriers; this could result from crossover events. The haplotype analysis of three intragenic polymorphisms (IVS8CA, IVS17bTA and IVS17bCA) compared with data from other studies revealed that several mutations (3849+10kbC>T, 1717‐1G>A, E585X, 3272‐26G>A, L558S, 2184insA and R347P) originated from multiple events, whereas others (R1158X and S549R) could be associated with one or more intragenic recombinant events. Given the large population migration from southern Italy, knowledge of the CF molecular epidemiology in this area is an important contribution to diagnosis, counselling and interlaboratory quality control for molecular laboratories worldwide.
Linkage Analysis of Chromosome 1 with Essential Hypertension and Blood Pressure Quantitative Traits in Chinese Families
Authors: Ge D. , Huang J. , Yang W. , Zhao J. , Shen Y. , Qiang B. , Gu D. 
Published: January 2005

SummarySeveral recent studies have linked human chromosome 1p to essential hypertension (EH) or blood pressure (BP) levels. In an independent population of 148 hypertensive families from China we tested these findings. Thirty highly informative microsatellite markers spanning about 284 cM were genotyped. Qualitative linkage analysis was conducted using non‐parametric linkage analysis implemented within the GENEHUNTER 2.0 software, whereas quantitative analysis was performed with the variance‐component method integrated in the S.O.L.A.R. 1.7.4. software with an additional Haseman‐Elston method using the SAGE/SIBPAL2 program. We observed suggestive linkage between D1S2890 (1p31, 80.9 cM) and hypertension using the multipoint non‐parametric linkage analysis (NPL = 2.19, P = 0.01). In the quantitative analysis we didn't observe a significant excess of identity‐by‐descent allele sharing between the systolic blood pressure levels and the markers. However, the D1S207 microsatellite marker (1p21) which is located about 107 cM from the telomere of 1p showed weak linkage evidence with the diastolic blood pressure levels (LOD = 1.42). These findings suggest linkage of 1p31 with essential hypertension in the ethnic Chinese, and provide a potential clue for future studies involving candidate genes for hypertension.
Genetic Heterogeneity of Beta Thalassemia in Lebanon Reflects Historic and Recent Population Migration
Authors: Makhoul N. J. , Wells R. S. , Kaspar H. , Shbaklo H. , Taher A. , Chakar N. , Zalloua P. A. 
Published: January 2005

SummaryBeta thalassemia is an autosomal recessive disorder characterized by reduced (β+) or absent (β0) beta‐globin chain synthesis. In Lebanon it is the most predominant genetic defect. In this study we investigated the religious and geographic distribution of the β‐thalassemia mutations identified in Lebanon, and traced their precise origins. A total of 520 β‐globin chromosomes from patients of different religious and regional backgrounds was studied. Beta thalassemia mutations were identified using Amplification Refractory Mutation System (ARMS) PCR or direct gene sequencing.Six (IVS‐I‐110, IVS‐I‐1, IVS‐I‐6, IVS‐II‐1, cd 5 and the C>T substitution at cd 29) out of 20 β‐globin defects identified accounted for more than 86% of the total β‐thalassemia chromosomes. Sunni Muslims had the highest β‐thalassemia carrier rate and presented the greatest heterogeneity, with 16 different mutations. Shiite Muslims followed closely with 13 mutations, whereas Maronites represented 11.9% of all β‐thalassemic subjects and carried 7 different mutations. RFLP haplotype analysis showed that the observed genetic diversity originated from both new mutational events and gene flow from population migration. This study provides information about the types and distribution of β‐thalassemia mutations within each religious group and geographic region, which is essential for the implementation of screening and prevention programs.
Linkage Analysis of Affected Sib Pairs Allowing for Parent‐of‐Origin Effects
Authors: Wu Chih‐Chieh , Shete Sanjay , Amos Christopher I. 
Published: January 2005

SummaryParent‐of‐origin effects, also known as genomic imprinting, exist for many mammalian genes. For imprinted genes the expression of an allele depends upon the sex of the transmitting parent. Here we have developed a method based on alleles that are shared identical by descent by affected sib pairs, that allows for parent‐of‐origin effects. Our method allows for sex‐specific recombination rates, an important consideration in studying imprinted genes. We have also derived a tetrahedron for the true identical‐by‐descent frequencies accounting for parent‐of‐origin effects. Using this tetrahedron, we propose a robust generalized minmax test for linkage and discuss its properties in the presence of genomic imprinting. We have also performed power comparisons of various allele sharing tests and provide regions of the tetrahedron in which the different tests are optimal. We also provide useful strategies to determine the optimal tests to use while performing a genome scan.
Microwave Spectrum, Quadrupole Coupling Constants, and Heavy-Atom Geometry of 2-Bromopropane
Authors: Schwendeman R. H. , Tobiason F. L. 
Published: January 2005

The microwave spectra of (CH3)2CH79Br, (CH3)2CH81Br, (CH3)213CH79Br, and 13CH3CH79BrCH3 have been examined, and the coordinates of the Br and C atoms have been obtained by the substitution method. The resulting bond distances and bond angles are as follows: r(CBr) = 1.957 Å, r(CC) = 1.508 Å, ∠CCBr = 110.0°, and ∠CCC = 114.2°.
The quadrupole coupling constants of (CH3)2CH79Br have been determined to be χaa = 479.5 Mc/sec, χbb = −264.9 Mc/sec, and χcc = −214.6 Mc/sec. Second-order perturbation corrections were included in the analysis of the hyperfine splittings. The quadrupole coupling constants are consistent with χzz = 529.8 Mc/sec, assuming a cylindrical charge distribution, and with χzz = 514.2 Mc/sec, ηbond = 0.0303, assuming that the z axis and the CBr internuclear line coincide.
Photolysis of Low-Temperature Glasses. I. Ethanol and Ether at 77°K
Authors: Judeikis Henry S. , Siegel Seymour 
Published: January 2005

The sensitized photolytic decomposition of ethanol and diethyl ether glasses at 77°K has been investigated utilizing electron paramagnetic resonance (EPR) spectroscopy. Support is given to a proposed mechanism of sensitized solvent decomposition by a two-step biphotonic absorption by an aromatic impurity molecule followed by a solute—solvent energy-transfer process. Subsequent dissociation processes from the excited solvent molecule are considered.
It is demonstrated that the results obtained upon prolonged photolysis of ethanol or ether can be attributed to a steady-state competition between the abstraction reactions of the type CH3CH2 (or CH3) +CH3CH2OR→CH3CH3 (or CH4) +CH3CHOR and the photoreaction CH3CHOR+hv→CH3+CH3CH2+ other products. The predicted dependence of the direction of the steady-state competition with respect to the relative radical concentrations on the incident light intensity is verified experimentally. Extinction of the excitation source results in a cessation of the steady-state condition, leading to the decay of the ethyl and methyl radical concentrations via the abstraction reactions. The latter abstraction process is discussed, and a significant isotope effect in the decay of the hydrocarbon radicals in CH3CD2OH is indicated.
The products of the dark abstraction reactions are the ethanol (CH3CHOH) or etheral (CH3CHOC2H5) radicals. In some cases, an EPR spectrum tentatively assigned to the acetyl radical (CH3CO) is also obtained. The latter species are photolyzable, and the wavelengths responsible for the photolyses are indicated. The EPR and electronic absorption spectral characteristics of the acetyl radical are compared to somewhat similar results obtained in the γ radiolysis of ethanol glasses. It is demonstrated that the similarity of the results is coincidental and that the results in the present study are not attributable to the solvated electron as they are in the case of γ radiolysis.
A series of reactions is proposed to qualitatively account for the spectral observations and gaseous product yields. This scheme is in satisfactory agreement with the experimental results.
Absolute Intensities of the Discrete and Continuous Absorption Bands of Oxygen Gas at 1.26 and 1.065 μ and the Radiative Lifetime of the 1Δg State of Oxygen
Authors: Badger Richard M. , Wright Alan C. , Whitlock Rodger F. 
Published: January 2005

Laboratory measurements have been made of the absolute intensities of the discrete-line absorption band at 1.26 μ, and of the continuous bands at 1.26 and 1.065 μ in oxygen gas at pressures up to 4.3 atm. It has been shown that discrete and continuous absorptions are quite independent features, the one being a measure of the intrinsic transition probability in isolated molecules, the other of its enhancement in collision complexes. In the former the lines show significant pressure broadening, but the integral molecular absorption coefficients are constant; in the latter they are proportional to pressure and continuous absorption dominates in the 1.26-μ region at about ½ atm oxygen pressure.
The radiative half-life of isolated 1Δg oxygen molecules is estimated to be 45 min, and the effect of gas pressure on the rate of decay has been predicted.
Outer-Shell Overlap Integrals as a Function of Distance for Halogen—Halogen, Halogen—Alkali, and Alkali—Alkali Ions in the Alkali Halide Lattices
Authors: Hafemeister D. W. , Flygare W. H. 
Published: January 2005

The outer s- and p-electron overlap integrals involving ns, npσ, and npπ orbitals have been computed for all combinations of ion pairs in all of the alkali halide lattices. The free-ion closed-shell Hartree—Fock wavefunctions were used in all calculations. The halogen—alkali (H—M) overlaps are listed at the equilibrium internuclear distances. The halogen—alkali (H—M), halogen—halogen (H–H), and alkali—alkali (M—M) overlap integrals were computed at several internuclear distances and were found to follow the exponential form Sab=A exp(—rab/ρ). Values of A and ρ are listed for all combinations of overlaps in the alkali halides.
Various convenient combinations of sums of squares of overlaps are also given as a function of distance for all the combinations in the alkali halide lattices.