bluuebunny/crossref_metadata_2025_split huggingface dataset:
Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome
Authors: Kosaki Rika , Fujimaru Rika , Samejima Hazuki , Yamada Hiroshi , Izumi Kosuke , Iijima Kazumoto , Kosaki Kenjiro 
Published: April 2007

AbstractWe report on wide phenotypic variations within a family with SALL1 mutations; the elder sister presented with a Townes–Brocks syndrome phenotype including external ear anomalies, preaxial polydactyly, and anteriorly placed anus, whereas the younger sister presented with a phenotype resembling Goldenhar syndrome, including atretic ear canals, mandibular hypoplasia, and right preaxial polydactyly as well as an epibulbar dermoid. The mother had abnormal external ears but was otherwise structurally normal, and the father was asymptomatic. Analysis of the SALL1 gene revealed that both daughters were heterozygous for nonsense mutation 1256T>A (L419X), that is present 5' to the region encoding the first double zinc finger. The mother was heterozygous for the L419X mutation. The younger daughter is the first patient with a SALL1 mutation to exhibit a classic Goldenhar syndrome‐like phenotype with an epibulbar dermoid. The observation lends further support to the concept that Goldenhar syndrome is an etiologically heterogeneous disorder that may have a genetic basis in some cases. © 2007 Wiley‐Liss, Inc.
Compound heterozygosity for dominant and recessive GJB2 mutations: Effect on phenotype and review of the literature
Authors: Welch Katherine O. , Marin Ruth S. , Pandya Arti , Arnos Kathleen S. 
Published: April 2007

AbstractMutations in GJB2 (which encodes the gap‐junction protein connexin 26) are the most common cause of genetic deafness in many populations. To date, more than 100 deafness‐causing mutations have been described in this gene. The majority of these mutations are inherited in an autosomal recessive manner, but approximately 19 GJB2 mutations have been associated with dominantly inherited hearing loss. One, W44C, was first identified in two families from France. We subsequently described a family in the United States with the same mutation. In these families, W44C segregates with a dominantly inherited, early‐onset, progressive, sensorineural deafness that is worse in the high frequencies. Since that report, we have tested additional family members and identified two siblings who are compound heterozygous for the W44C and K15T mutations. Their father, the original proband, is heterozygous for the dominant W44C mutation, and their mother is compound heterozygous for two recessively inherited mutations, K15T and 35delG. Both children have a profound, sensorineural deafness and use manual communication, in contrast to their parents and other relatives whose hearing losses are less severe and who can communicate orally. The difference in phenotype may be a result of the disruption of different functions of the gap‐junction protein by the two mutations, which have an additive effect. © 2007 Wiley‐Liss, Inc.
Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus
Authors: Meyer Nicole C. , Alasti Fatemeh , Nishimura Carla J. , Imanirad Parisa , Kahrizi Kimia , Riazalhosseini Yasser , Malekpour Mahdi , Kochakian Nafiseh , Jamali Payman , Van Camp Guy , Smith Richard J.H. , Najmabadi Hossein 
Published: April 2007

AbstractForty‐five consanguineous Iranian families segregating autosomal recessive nonsyndromic hearing loss (ARNSHL) and negative for mutations at the DFNB1 locus were screened for allele segregation consistent with homozygosity by descent (HBD) at the DFNB21 locus. In three families demonstrating HBD at this locus, mutation screening of TECTA led to the identification of three novel homozygous mutations: one frameshift mutation (266delT), a transversion of a cytosine to an adenine (5211C > A) leading to a stop codon, and a 9.6 kb deletion removing exon 10. In total, six mutations in TECTA have now been described in families segregating ARNSHL. All of these mutations are inactivating and produce a similar phenotype that is characterized by moderate‐to‐severe hearing loss across frequencies with a mid frequency dip. The truncating nature of these mutations is consistent with loss‐of‐function, and therefore the existing TECTA knockout mouse mutant represents a good model in which to study DFNB21‐related deafness. © 2007 Wiley‐Liss, Inc.
Synthesis and characterization of dense and porous cellulose films
Authors: Khare Vivek P. , Greenberg Alan R. , Kelley Stephen S. , Pilath Heidi , Juhn Roh Il , Tyber Jeff 
Published: April 2007

AbstractWhereas cellulose‐derived polymers are routinely used as membrane materials, the cellulose polymer itself is not directly used to synthesize dense/porous films for membrane applications. Recently, N‐methylmorpholine N‐oxide (NMMO) and dimethylacetamide (DMAc)/lithium chloride (LiCl) have been successfully employed for dissolving unmodified cellulose. This provides a strong rationale for reexamining the possibility of cellulose membrane fabrication using these solvents. By judiciously selecting solvents, casting conditions, and solvent exchange steps, we successfully synthesized dense/asymmetric‐porous cellulose films. The pore size and porosity of the porous films decreased systematically with increasing cellulose concentration. SEM analysis of the cross sections revealed an asymmetric skinned structure with monotonically increasing pore size away from the skin. The measured pore diameters were in the range 1.8–4.8 μm. Mechanical testing indicated that the dense films possessed tensile properties comparable to those of cellulose acetate (CA) films. Though nitrogen permeability values were comparable for cellulose and CA dense films, cellulose film permeability depended upon the type of drying protocol employed. Overall, these results demonstrate that processability need not be a constraint in the use of cellulose polymer for membrane fabrication. In selected applications, cellulose membranes could become a cost‐effective, environmentally friendly alternative to other more commonly employed membrane polymers. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci, 2007
Age‐related accumulation of Marinesco bodies and lipofuscin in rhesus monkey midbrain dopamine neurons: Relevance to selective neuronal vulnerability
Authors: Kanaan Nicholas M. , Kordower Jeffrey H. , Collier Timothy J. 
Published: April 2007

AbstractParkinson's disease (PD) is characterized by degeneration of nigrostriatal dopamine (DA) neurons. Although aging is a primary risk factor for PD, its role in DA neuron degeneration remains unknown. Neurodegeneration in PD is not uniform throughout the ventral midbrain: the ventral tier of the substantia nigra (vtSN) is most vulnerable, whereas the dorsal tier (dtSN) and ventral tegmental area (VTA) are relatively resistant. We studied young (9–10 years old), middle‐aged (14–17 years old), and old‐aged (22–29 years old) rhesus monkeys to identify factors potentially underlying selective vulnerability and their association with aging. We focused on markers relevant to the ubiquitin‐proteasome (UPS) and lysosome systems. Unbiased stereological counting was performed on tyrosine hydroxylase‐positive (TH+) neurons and TH+ neurons containing Marinesco bodies (TH+MB) or lipofuscin (TH+lipo), markers of UPS or lysosomal activity, respectively. TH+ neuron numbers were inversely correlated with advancing age specifically in the vtSN, not the dtSN or VTA. TH intensity decreased throughout the ventral midbrain with increasing age, an effect exacerbated in the vtSN. TH+MB neurons were localized in the vulnerable vtSN of old monkeys. The number of MBs per cell increased with age, and TH intensity of TH+MB neurons decreased in middle age. Conversely, TH+lipo neurons were primarily found in the resistant dtSN and VTA. These data suggest that particular age‐related changes localize to DAergic subregions relevant to degenerative patterns in PD. Furthermore, the results begin to characterize the nature of the link between aging and PD, and they support the concept that aged monkeys represent a valuable model for studying specific events preceding PD. J. Comp. Neurol. 502:683–700, 2007. © 2007 Wiley‐Liss, Inc.
Endomorphin‐2‐immunoreactive fibers selectively appose serotonergic neuronal somata in the rostral ventral medial medulla
Authors: Gu Ming , Wessendorf Martin 
Published: April 2007

AbstractThe rostral portion of the ventral medial medulla (RVM) is a crucial site for the supraspinal antinociceptive actions of opioids. Previous studies have reported that serotonergic antagonists block the analgesia induced by microinjection of morphine into the RVM (Hammond and Yaksh [1984] Brain Res 298:329–337) and that spinally projecting serotonergic RVM neurons express μ‐opioid receptors (MOR) (Kalyuzhny et al. [1996] J Neurosci 16:6490–6503; Wang and Wessendorf [1999] J Comp Neurol 404:183–196). In addition, axons immunoreactive for the endogenous MOR ligand endomorphin‐2 (Tyr‐Pro‐Phe‐Phe‐NH2) (EM‐2) have been reported to be in the RVM (Martin‐Schild et al. [1999] J Comp Neurol 405:450–471; Pierce and Wessendorf [2000] J Chem Neuroanat 18:181–207). In the present study we examined the relationship of EM‐2‐immunoreactive (EM‐2‐ir) axons to serotonergic and nonserotonergic RVM neurons in rats, including neurons projecting to the dorsal spinal cord. We also examined the origins of EM‐2‐ir in the RVM. Using unbiased methods we estimated the total number of cells in the RVM to be 1.50 × 104 and of these up to 70% were retrogradely labeled from the dorsal spinal cord. EM‐2‐ir fibers apposed both serotonergic and nonserotonergic RVM neuronal profiles. However, serotonergic profiles were significantly more likely to be apposed than nonserotonergic profiles. Thus, although serotonergic neurons comprise a minority of RVM neurons (23% of the total RVM neurons), they appear to be selectively apposed by EM‐2‐ir fibers. We also found that hypothalamic EM‐2‐ir neurons, but not EM‐2‐ir neurons, in the nucleus of the solitary tract projected their axons to the RVM. J. Comp. Neurol. 502:701–713, 2007. © 2007 Wiley‐Liss, Inc.
Maximal displacement of branching brownian motion
Authors: Bramson Maury D. 
Published: April 2007

AbstractIt is shown that the position of any fixed percentile of the maximal displacement of standard branching Brownian motion in one dimension is 21/2t–3 · 2−3/2 log t + O(1) at time t, the second‐order term having been previously unknown. This determines (to within O(1)) the position of the travelling wave of the semilinear heat equation, ut =1/2uxx +f(u), in the classic paper by Kolmogorov‐Petrovsky‐Piscounov, “Étude de l'équations de la diffusion avec croissance de la quantité de la matière et son application à un problème biologique”, 1937.
Walking planning based on artificial vector field with prediction simulation for biped robot
Authors: Yamaguchi Takashi , Shibata Masaaki 
Published: April 2007

AbstractThis paper proposes a method for gait trajectory generation using an artificial vector field for stable walking for a biped robot. The tip of the robot while walking can often deviate from the desired trajectory as a result of the disturbances forced by unexpected outside factors. In our approach, though no prepared trajectory is specified a priori, the tip follows the artificial vectors designed in the workspace. Moreover, the prediction simulation is performed online. The simulator judges the stability under comparison with the present state and the prediction results, and then the gait parameters are adaptively improved in feedforward for the stable walk. The numerical and physical experimental results show the validity of the proposed method in a continuous walk. © 2007 Wiley Periodicals, Inc. Electr Eng Jpn, 159(4): 54– 61, 2007; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/eej.20547
Validation of the Telephone Interview for Cognitive Status (TICS) in Japanese
Authors: Konagaya Yoko , Washimi Yukihiko , Hattori Hideyuki , Takeda Akinori , Watanabe Tomoyuki , Ohta Toshiki 
Published: April 2007

AbstractBackgroundIn recent years, the population of elderly people in Japan with dementia has increased. Detection of cognitive impairment in the early stages is important for adequate treatment, care, and prevention.AimTo investigate whether the reliability and validity of the instrument would carry over to a different population and language before using it for population‐based epidemiological studies.MethodsWe studied 135 subjects, 49 patients with Alzheimer's disease (AD) and 86 healthy controls (CTL) using the Telephone Interview for Cognitive Status (TICS) and developed the Japanese version of the TICS (TICS‐J). We also evaluated combination of another telephone battery, the Category Fluency Test (CF).ResultsThe sensitivity and specificity of the TICS‐J to differentiate AD patients from CTL was 98.0% and 90.7%, respectively. Pearson's correlation coefficient for the TICS‐J and Mini‐Mental State Examination (MMSE) was 0.858 (p < 0.001). On the Receiver Operating Characteristic (ROC), the area under the curve for the TICS‐J was 98.7%. The combination of the TICS‐J with the CF did not change the validity of the discrimination.ConclusionThese results indicated that TICS‐J was a sensitive and specific instrument for differentiating AD patients from healthy controls. Copyright © 2007 John Wiley & Sons, Ltd.
The role of adults, public space, and power in adolescent community connectedness
Authors: Whitlock Janis 
Published: April 2007

AbstractCommunities are critical arenas for adolescent development. This study uses mixed methods to assess contextual correlates to community connectedness in 8th, 10th, and 12thgrade youth. The survey examined the relationship between community connectedness and four developmental supports: safety, community monitoring, creative outlets, and meaningful opportunities for exercising influence, as well as demographic and contextual control variables. Focus groups were used to identify other potentially salient contextual correlates. Findings suggest that youth connectedness to community was influenced by: (a) quality of youth‐adult exchange, (b) availability of outlets for creative engagement, (c) well advertised opportunities for meaningful input, (d) safety, (e) perceived welcome in public spaces, (f) knowledge of community events, and (g) awareness of youth impact on community policies. Positive relationships with at least one parent, grade level, group involvement, and race also contributed to connectedness. Findings provide support for a multifaceted conceptualization of community connectedness. Implications for communities hoping to enhance connectedness are discussed. © 2007 Wiley Periodicals, Inc. J Comm Psychol 35: 499–518, 2007.
Supporting multimedia streaming and best‐effort data transmission over IEEE 802.11e EDCA
Authors: Kuo Wen‐Kuang 
Published: April 2007

AbstractAs demand for broadband multimedia wireless services increases, improving quality of service (QoS) of the widely deployed IEEE 802.11 wireless LAN (WLAN) has become crucial. To support the QoS required by a wide range of applications, the IEEE 802.11 working group has defined a new standard: IEEE 802.11e. In this paper, we propose a measurement‐based dynamic media time allocation (MBDMTA) scheme combined with a concatenating window scheme to support real‐time variable bit rate (rt‐VBR) video and best‐effort (BE) data transmission using IEEE 802.11e enhanced distributed channel access (EDCA). To provide the QoS guarantee for rt‐VBR video, the proposed MBDMTA scheme dynamically assigns channel time to the rt‐VBR video based on the estimate of the required network resources. On the other hand, the concatenating window scheme controls the contention window (CW) ranges of different priority flows such that real‐time services always have higher channel access probability, thus achieving the capability of preemptive priorities. In addition, the concatenating window scheme preserves fairness among flows of the same class and attains high channel utilization under different network conditions. Simulation results demonstrate that the throughput and delay performance improve significantly for the transmission of rt‐VBR video and BE traffic as compared to those for the 802.11e EDCA specification. It is also revealed that combining the two proposed schemes provides seamless integration and reliable transmission of digital video and data service within the 802.11e EDCA framework. Copyright © 2007 John Wiley & Sons, Ltd.
Physiologic Responses of Clients With Essential Hypertension to Progressive Muscle Relaxation Training
Authors: Pender Nola J. 
Published: April 2007

AbstractThe effects of progressive muscle relaxation on blood pressure of hypertensive clients were examined. After collection of baseline data, 22 clients received group relaxation training followed by individual monitoring sessions over a 6‐week period. The 22 persons in the control group did not receive relaxation training. The group instructed in relaxation had a lower mean systolic blood pressure than the nontrained group at 4‐month follow‐up. While the relaxation‐trained group showed a significant decrease in diastolic pressure from baseline to follow‐up, the difference between trained and non‐trained groups at follow‐up was not significant. Relaxation, taught initially in group with individual follow‐up visits, resulted in continued practice of relaxation and subsequent lowering of blood pressure in subjects with essential, uncomplicated hypertension.
Effects of Information on Patient Stereotyping
Authors: Devellis Brenda Mcevoy , Adams Judith L. , Devellis Robert F. 
Published: April 2007

AbstractThe influence of information on nurse attitudes and behavior toward a member of a stereotyped group was investigated. Responsibility for the decision to be childless and the intelligence of the person making that decision were manipulated. Student nurses individually interacted with a hypothetical, childless, female patient, presented via audiotape, who was about to undergo surgery for sterilization. The patient was described (a) as seeking sterilization either voluntarily or because of medical necessity, and (b) as either retarded or not classified intellectually. It was hypothesized that the patient who freely chose childlessness would be viewed and treated less positively when thought to be of normal intelligence. When the patient was mildly retarded or seeking sterilization out of medical necessity, however, more positive attitudes and behavior were expected. Both of these hypotheses were supported. The results of this study support the importance of contextual variables on perceptions of patients.
Nurse‐midwives and obstetricians: Alternative models of care and client “fit”
Authors: Aaronson Lauren S. 
Published: April 2007

AbstractIssues related to the fit between clients and providers were investigated using data on 244 women who received prenatal care at one of two health care facilities that offered both nurse‐midwifery and obstetrician services. Characteristics of the women who received each type of care, as well as their perceptions of their health provider, were explored. No significant demographic differences were found between the nurse‐midwifery (CNM) and obstetrician (OB) client groups. The CNM clients scored higher on internal locus of control and the OB clients scored higher on chance and powerful others locus of control. For five of six behaviors (prenatal care, diet, exercise, and abstaining from caffeine and alcohol), the CNM clients consistently viewed their providers as holding significantly stronger attitudes about the behavior and as being significantly more supportive of their engaging in them than did the OB clients. Findings from this study provide evidence in support of offering women alternatives in maternity care.
The effect of therapy on the mental health of the elderly
Authors: Burckhardt Carol S. 
Published: April 2007

AbstractThis research synthesis was undertaken to study the effects of treatment on the mental health of elderly people. Forty‐one controlled studies were analyzed using meta‐analytic techniques. Type of treatment along with subject, therapist, setting, and methodological characteristics of the studies were identified and their contributions to mental health outcomes measured. Results indicated that the mean outcome of the experimental group, treated with any type of treatment improved from the fiftieth percentile to the seventieth percentile relative to the mean of the untreated control groups. This research synthesis supports the belief that, in general, treatment is effective in enhancing the mental health of the elderly.
Validation of an instrument to measure exercise of self‐care agency
Authors: McBride Sandra 
Published: April 2007

AbstractThe purpose of this study was to examine the reliability and construct validity of Kearney and Fleischer's (1979) Exercise of Self‐Care Agency Scale. The Self‐Directed Learning Readiness Scale (SDLRS) (Guglielmino, 1977) was used to test construct validity. Subjects consisted of 62 post‐basic nursing students and 57 adult diabetic patients. The results showed significant correlations between the scales for both groups. However, the relationship was stronger for the student group (r = 0.505) than for the patient group (r = 0.302). The Exercise of Self‐Control Agency Scale was significantly correlated with all eight factors of the SDLRS for the student group and with only three factors for the patient group. Split‐half reliability for the former scale was similar for both groups (r = 0.78 and 0.74); test‐retest reliability was lower for the patient group (r = 0.55) than for the student group (r = 0.76).
Home birth and hospital deliveries: A comparison of the perceived painfulness of parturition
Authors: Morse Janice M. , Park Caroline 
Published: April 2007

AbstractCognitive assessments of the amount of pain associated with childbirth by parents electing either homebirth (n=282) or hospital delivery (n=191) were compared using Thurstone's univariate scaling method of paired comparisons. Subjects compared the pain of childbirth with 8 other painful events. The hospital birth group rated childbirth pain significantly higher than the homebirth group. In the homebirth group, females considered the pain to be less than the males, and in the hospital birth group, the females rated pain higher than the males.
Postdischarge distress in surgically treated cancer patients and their spouses
Authors: Oberst Marilyn T. , Scott Diane W. 
Published: April 2007

AbstractTemporal patterns of distress among two groups of nonterminally ill, surgically treated cancer patients (n = 40) and their spouses (n = 40) during the immediate pre‐and postdischarge period were studied. Data about problems encountered and standardized measures of distress (State Anxiety Index, Brief Symptom Index, and Vulnerability Index) were obtained before hospital discharge and at 10, 30, 60, 90, and 180 days postdischarge. The intensity of distress experienced by patients and spouses was remarkably similar, although the temporal pattern of occurrence was significantly different. Prior to discharge, spouse anxiety was significantly higher than that of the patients and above the norm for hospitalized persons. Spouses were least distressed after 10 days at home, but thereafter experienced a rise in vulnerability culminating in observable clinical depression at 90 and 180 days. Peak distress for the patients occurred 10 days after discharge as a function of physical symptoms that were unexpected or more severe than anticipated. Patients with ostomies (n = 20) were slower to return to pre‐illness functional levels and had somewhat more psychological distress than nonostomy patients.