bluuebunny/crossref_metadata_2025 huggingface dataset:
Outcomes and Satisfaction of Patients of Psychiatric Clinical Nurse Specialists
Authors: Baradell Janet G. , Bordeaux Barbara R.
Published: October 2002

BACKGROUND: A pilot study (Baradell, 1995) employing a retrospective design demonstrated that out-patients (N = 100) of psychiatric clinical nurse specialists (CNSs) reported significant improvement in clinical symptoms and quality of life and reported a high level of satisfaction with care.

OBJECTIVES: To follow up on these initial results, a prospective study was designed to examine the following questions: (a) Were there improvements in clinical symptoms and quality of life between initiation and termination of psychotherapy? (b) Were improvements in clinical symptoms and quality of life maintained 6 months after termination? (c) What level of patient satisfaction was reported 6 months after termination of psychotherapy?

DESIGN: The sample included patients (N = 257) from the private practices of CNSs in North Carolina. Data were collected at initiation, at termination, and 6 months after termination. Instruments included the Profile of Mood States-Short Form (McNair, Lorr, & Droppleman, 1992), Quality of Life, and the Patient Satisfaction Survey.

RESULTS: Patients reported significant improvement in clinical symptoms and quality of life at termination. Improvements were maintained 6 months after termination for clinical symptoms and quality of life, with the exception of the job domain. Patients reported a very high level of satisfaction with the care provided by CNSs.

CONCLUSIONS: Mental health care provided by psychiatric CNSs can improve the quality of care and the level of patient satisfaction for consumers of mental health services. Data support the inclusion of psychiatric CNSs as providers in the rapidly changing health care system. The data from the pilot study and the current study lend further support to psychotherapy as an autonomous role for psychiatric CNSs.
Experience of Stigma by Families with Mentally Ill Members
Authors: Muhlbauer Susan
Published: October 2002

BACKGROUND: More than 4 million American families live with severely mentally ill members. The cost is substantial. Consequences of stigma produce a component of that cost.

OBJECTIVE: The study’s purposes were to examine the experience of stigma from a family member’s perspective, to analyze stigma types and consequences, and to search for management strategies.

STUDY DESIGN: This qualitative study was based on a framework of symbolic interaction and dramaturgical interviewing. Twenty-six respondents, all with mentally ill relatives, participated in a 11/2- to 2-hour semi-structured interview.

RESULTS: Stigma was experienced as part of a sequential process and occurred in private and public life domains including internalized, family centered, direct personalized, and indirect institutionalized types. Although a decrease in direct, public, personalized stigma was reported, institution stigma was viewed as highly problematic. Successful management and self-disclosure techniques were noted.

CONCLUSION: Although types of stigma remain problematic, successful management strategies are possible.
Activation of proteinase‐activated receptor 1 stimulates epithelial chloride secretion through a unique MAP kinase‐and cyclo‐oxygenase‐dependent pathway
Authors: Buresi Michelle C. , Buret André , Hollenberg Morley D. , Macnaughton Wallace K.
Published: October 2002

Proteinase‐activated receptor 1 (PAR‐1) is activated by thrombin and induces chloride secretion by intestinal epithelial cells. To elucidate further the mechanisms whereby PAR‐1 stimulates secretion, monolayers of SCBN intestinal epithelial cells were studied in modified Ussing chambers. Short circuit current responses were determined after basolateral application of thrombin and the PAR‐1‐activating pep‐tide, Ala‐parafluoro‐Phe‐Arg‐cyclohexyl‐Ala‐Citrulline‐Tyr (Cit‐NH2) in the presence or absence of a variety of signal transduction and cyclo‐oxygenase (COX) pathway inhibitors. Increased kinase activity was monitored by immunoprecipitation and Western blot analysis of target phosphoproteins. The PAR‐1‐induced chloride secretory response was significantly attenuated by inhibitors of the EGF receptor tyrosine kinase, Srckinase, MEK1/2, as well as by inhibitors of cytosolic phospholipase (cPL) A2, COX‐1 and COX‐2. PAR‐1induced activation of cPLA2, as shown by Western blot of phosphoserine residues, was blocked in cells treated with the MEK inhibitor U0126, indicating that the MEK‐ERK1/2 MAP kinase pathway mediated PAR‐1induced cPLA2 phosphorylation. Our data show that PAR‐1‐induced chloride secretion in SCBN cells involves Src, EGF receptor trans‐activation, activation of a MAPK pathway, phosphorylation of cPLA2, COX activity, but not PGF2a or PGE2. These findings may be of clinical importance in inflammatory diseases of the intestine where secretory dysfunction is evident and thrombin levels are elevated.—Buresi, M. C., Buret, A. G., Hollenberg, M. D., MacNaughton, W. K. Activation of proteinase‐activated receptor 1 stimulates epithelial chloride secretion through a unique MAP kinase‐and cyclo‐oxygenase‐dependent pathway. FASEB J. 16, 1515–1525 (2002)
Stem cell differentiation requires a paracrine pathway in the heart
Authors: Behfar Atta , Zingman Leonid V. , Hodgson Denice M. , Rauzier Jean‐Michel , Kane Garvan C. , Terzic Andre , Pucéat Michel
Published: October 2002

Members of the transforming growth factor pβ (TGF‐β) superfamily‐namely, TGF‐β and BMP2—applied to undifferentiated murine embryonic stem cells up‐regulated mRNA of mesodermal (Brachyury) and cardiac specific transcription factors (Nkx2.5, MEF2C). Embryoid bodies generated from stem cells primed with these growth factors demonstrated an increased potential for cardiac differentiation with a significant increase in beating areas and enhanced myofibrillogenesis. In an environment of postmitotic cardiomyocytes, stem cells engineered to express a fluorescent protein under the control of a cardiac promoter differentiated into fluorescent ventricular myocytes beating in synchrony with host cells, a process significantly enhanced by TGF‐β or BMP2. In vitro, disruption of the TGF‐β/BMP signaling pathways by latency‐associated peptide and/or noggin prevented differentiation of stem cells. In fact, only host cells that secrete a TGF‐β family member induced a cardiac phenotype in stem cells. In vivo, transplantation of stem cells into heart also resulted in cardiac differentiation provided that TGF‐β/BMP2 signaling was intact. In infarcted myocardium, grafted stem cells differentiated into functional cardiomyocytes integrated with surrounding tissue, improving contractile performance. Thus, embryonic stem cells are directed to differentiate into cardiomyocytes by signaling mediated through TGF‐β/BMP2, a cardiac paracrine pathway required for therapeutic benefit of stem cell transplantation in diseased heart.—Behfar, A., Zingman, L. V., Hodgson, D. M., Rauzier, J.‐M., Kane, G. C., Terzic, A., Pucéat, M. Stem cell differentiation requires a paracrine pathway in the heart. FASEB J. 16, 1558–1566 (2002)
Testosterone, cytochrome P450, and cardiac hypertrophy
Authors: Thum Thomas , Borlak Jürgen
Published: October 2002

Cytochrome P450 mono‐oxygenases (CYP) play an essential role in steroid metabolism, and there is speculation that sex hormones might influence cardiac mass and physiology. As CYP mono‐oxygenases activity is frequently altered during disease, we tested our hypothesis that CYP mono‐oxygenase expression and testosterone metabolism are altered in cardiac hypertrophy. We investigate major CYP mono‐oxygenase isoforms and other steroid‐metabolizing enzymes and the androgen receptor in normal, hypertrophic, and assist device‐supported human hearts and in spontaneously hypertensive rats (SHR). We show increased and idiosyncratic metabolism of testosterone in hypertrophic heart and link these changes to altered CYP mono‐oxygenase expression. We show significant induction of 5‐alpha steroid reductase and P450 aromatase gene expression and enhanced production of dihydrotestosterone, which can be inhibited by the 5‐alpha reductase inhibitor finasteride. We show increased gene expression of the androgen receptor and increased levels of lipid peroxidation in diseased hearts, the latter being markedly inhibited by CYP mono‐oxygenase inactivation. We show alpha‐MHC to be significantly repressed in cardiac hypertrophy and restored to normal on testosterone supplementation. We conclude that heart‐specific steroid metabolism is of critical importance in cardiac hypertrophy.—Thum, T., Borlak, J. Testosterone, cytochrome P450, and cardiac hypertrophy. FASEB J. 16, 1537–1549 (2002)
Family ties of gated pores: evolution of the sensor module
Authors: Kuma'novics Attila , Levin Gal , Blount Paul
Published: October 2002

The six‐transmembrane channels are thought to be composed of two modules: pore and sensor. Whereas the modular design of the pore has been established, the modularity of the sensor remains hypothetical. As a first step toward establishing the modularity of this region, we searched for genes where the sensor is found independent of the pore and have identified new members of the sensor superfamily. Analysis of these sensors reveals a motif shared among not only these newly discovered members and voltage‐gated, transient receptor potential, and polycystin channel sensors, but also MscL, a bacterial mechanosensitive channel. Mutational analyses presented here and in previous studies demonstrate that highly conserved residues within this motif are required for normal channel activity; mutations of residues within this motif in different subfamilies lead to consistent channel phenotypes. Previous studies have demonstrated that peptides containing this motif and the adjacent conserved transmembrane domain elicit channel activities when reconstituted into lipid membranes. These data provide evidence for the modularity of the sensor, imply a model for its evolution, suggest a common origin for mechano‐and voltage‐sensing, and may offer a glimpse of the properties of the first sensor/channel.—Kumánovics, A., Levin, G., Blount, P. Family ties of gated pores: evolution of the sensor module. FASEB J. 16, 1623–1629 (2002)
Low doses of the endocrine disruptor Bisphenol‐A and the native hormone 17β‐estradiol rapidly activate the transcription factor CREB
Authors: Quesada Ivan , Fuentes Esther , Viso‐León M. Carmen , Soria Bernat , Ripoll Cristina , Nadal Angel
Published: October 2002

Endocrine‐disrupting chemicals (EDCs) are hormone‐like agents present in the environment that alter the endocrine system of wildlife and humans. Most EDCs have potencies far below those of the natural hormone 17β‐E2 when acting through the classic estrogen receptors (ERs). Here, we show that the environmental estrogen Bisphenol‐A and the native hormone 17β‐E2 activate the transcription factor, cAMP‐responsive element binding protein (CREB) with the same potency. Phosphorylated CREB (P‐CREB) was increased after only a 5‐minute application of either BPA or 17β‐E2 in a calcium‐dependent manner. The effect was reproduced by the membrane‐impermeable molecule E2 conjugated to horseradish peroxidase (E‐HRP). The increase in PCREB was not modified by the anti‐estrogen ICI 182,780. Therefore, low‐dose of BPA activates the transcription factor CREB via an alternative mechanism, involving a non‐classical membrane estrogen receptor. Because these effects are elicited at concentrations as low as 10–9 M, this observation is of environmental and public health relevance.
Normal and Abnormal Personality Traits: Evidence for Genetic and Environmental Relationships in the Minnesota Study of Twins Reared Apart
Authors: Markon Kristian E. , Krueger Robert F. , Bouchard Thomas J. , Gottesman Irving I.
Published: October 2002

ABSTRACTRecent studies have demonstrated substantial correlations between normal and abnormal personality traits. Yet little is known about how these correlations are mediated genetically and environmentally: Do normal and abnormal personality traits stem from the same underlying genes and environments? We addressed this question using data from 128 monozygotic and dizygotic twin pairs in the Minnesota Study of Twins Reared Apart (MISTRA). Additive genetic and nonshared environmental correlations between scales of the Minnesota Multiphasic Personality Inventory (MMPI)—an index of abnormal personality—and the Multidimensional Personality Questionnaire (MPQ)—an index of normal personality—were estimated. Results indicated that phenotypic correlations between normal and abnormal personality were mediated by genetic as well as environmental factors, although the magnitude of genetic mediation tended to be larger overall. Moreover, the patterns of phenotypic, genetic, and environmental relationships among the scales were similar, suggesting that influences on normal and abnormal personality act through systems common to both. It is suggested that future research focus on the neurogenetic substrates of these shared systems and how dysfunction in these systems influences development of disordered personality.
groELExpression ingyrBMutants ofBorrelia burgdorferi
Authors: Alverson Janet , Samuels D. Scott
Published: October 2002

GroEL protein andgroELmRNA transcript were up-regulated ingyrBmutants ofBorrelia burgdorferi, a causative agent of Lyme disease. Furthermore, the protein and transcript levels ingyrBmutants were greater than those in experimentally heat-shocked cultures of wild-typeB. burgdorferi. Circular DNA in thegyrBmutants was more relaxed than in wild-type cells, althoughgroELis on the linear chromosome ofB. burgdorferi. To our knowledge, this is the first evidence, albeit indirect, for the effect of DNA topology on gene expression from a linear DNA molecule in a bacterium.
Study of Second-Site Suppression in the
pheP
Gene for the Phenylalanine Transporter of
Escherichia coli
Authors: Pi Jing , Chow H. , Pittard A. J.
Published: October 2002

Site-directed mutagenesis was used to investigate a region of the PheP protein corresponding to the postulated consensus amphipathic region (CAR) in the GabP protein. Whereas some critical residues are conserved in both proteins, there are major differences between the two proteins which may reflect different functions for this region. Replacement of R317, Y313, or P341 by a number of other amino acids destroyed the PheP function. An R317E-E234R double mutant exhibited low levels of PheP transport activity, indicating that there is a possible interaction between these two residues in the wild-type protein. E234 is highly conserved in members of the superfamily of amino acid-polyamine-organocation transporters and also is critical for PheP function in the wild-type protein. Second-site suppressors were isolated for mutants with mutations in E234, Y313, R317, and P341. Most suppressor mutations were found to cluster towards the extracellular face of spans III, IX, and X. Some mutations, such as changes at M116, were able to suppress each of the primary changes at positions E234, Y313, R317, and P341 but were unable to restore function to a number of other primary mutants. The possible implications of these results for the tertiary structure of the protein are discussed.
Transcription Activation by FNR: Evidence for a Functional Activating Region 2
Authors: Blake Timo , Barnard Anne , Busby Stephen J. W. , Green Jeffrey
Published: October 2002

The FNR protein of
Escherichia
coli
controls the transcription of target genes in response to anoxia via the assembly-disassembly of oxygen-labile iron-sulfur clusters. Previous work identified patches of surface-exposed amino acids (designated activating regions 1 and 3 [AR1 and AR3, respectively]) of FNR which allow it to communicate with RNA polymerase (RNAP) and thereby activate transcription. Previously it was thought that FNR lacks a functional activating region 2 (AR2), although selecting for mutations that compensate for defective AR1 or a miscoordinated iron-sulfur cluster can reactivate AR2. Here we show that the substitution of two surface-exposed lysine residues (Lys49 and Lys50) of FNR impaired transcription from class II (FNR box centered at −41.5) but not class I (FNR box centered at −71.5) FNR-dependent promoters. The degree of impairment was greater when a negatively charged residue (Glu) replaced either Lys49 or Lys50 than when uncharged amino acid Ala was substituted. Oriented heterodimers were used to show that only the downstream subunit of the FNR dimer was affected by the Lys→Ala substitutions at a class II promoter. Site-directed mutagenesis of a negatively charged patch (
162
EEDE
165
) within the N-terminal domain of the RNAP α subunit that interacts with the positively charged AR2 of the cyclic AMP receptor protein suggested that Lys49 and Lys50 of FNR interact with this region of the α subunit of RNAP. Thus, it was suggested that Lys49 and Lys50 form part of a functional AR2 in FNR.
Control by A-Factor of a Metalloendopeptidase Gene Involved in Aerial Mycelium Formation in
Streptomyces
griseus
Authors: Kato Jun-ya , Suzuki Ayano , Yamazaki Haruka , Ohnishi Yasuo , Horinouchi Sueharu
Published: October 2002

In
Streptomyces
griseus
, A-factor (2-isocapryloyl-3
R
-hydroxymethyl-γ-butyrolactone) switches on aerial mycelium formation and secondary metabolite biosynthesis. An A-factor-dependent transcriptional activator, AdpA, activates multiple genes required for morphological development and secondary metabolism in a programmed manner. A region upstream of a zinc-containing metalloendopeptidase gene (
sgmA
) was found among the DNA fragments that had been isolated as AdpA-binding sites. The primary product of
sgmA
consisted of N-terminal pre, N-terminal pro, mature, and C-terminal pro regions.
sgmA
was transcribed in an AdpA-dependent manner, and its transcription was markedly enhanced at the timing of aerial mycelium formation. AdpA bound two sites in the region upstream of the
sgmA
promoter; one was at about nucleotide position −60 (A site) with respect to the transcriptional start point of
sgmA
, and the other was at about position −260 (B site), as determined by DNase I footprinting. Transcriptional analysis with mutated promoters showed that the A site was essential for the switching on of
sgmA
transcription and that the B site was necessary for the marked enhancement of transcription at the timing of aerial mycelium formation. Disruption of the chromosomal
sgmA
gene resulted in a delay in aerial hypha formation by half a day. SgmA is therefore suggested to be associated with the programmed morphological development of
Streptomyces
, in which this peptidase, perhaps together with other hydrolytic enzymes, plays a role in the degradation of proteins in substrate hyphae for reuse in aerial hypha formation.
Tightly Regulated Gene Expression System inSalmonella entericaSerovar Typhimurium
Authors: McKinney Jeffrey , Guerrier-Takada Cecilia , Galán Jorge , Altman Sidney
Published: October 2002

A newSalmonella entericaserovar Typhimurium strain has been constructed to facilitate tightly regulated gene expression. Arabinose-inducible and glucose-repressible expression of a T7 RNA polymerase gene that has been integrated with an adjacentaraC-PBADcontrol element into the bacterial chromosome allows dynamic control of T7 promoter-driven RNA transcription.
A Green Nonsulfur Bacterium,Dehalococcoides ethenogenes, with the LexA Binding Sequence Found in Gram-Positive Organisms
Authors: Fernández de Henestrosa Antonio R. , Cuñé Jordi , Erill Ivan , Magnuson Jon K. , Barbé Jordi
Published: October 2002

Dehalococcoides ethenogenesis a member of the physiologically diverse division of green nonsulfur bacteria. Using a TBLASTN search, theD. ethenogenes lexAgene has been identified, cloned, and expressed and its protein has been purified. Mobility shift assays revealed that theD. ethenogenesLexA protein specifically binds to both its own promoter and that of theuvrAgene, but not to therecApromoter. Our results demonstrate that theD. ethenogenesLexA binding site is GAACN4GTTC, which is identical to that found in gram-positive bacteria. In agreement with this fact, theBacillus subtilisDinR protein binds specifically to theD. ethenogenesLexA operator. This constitutes the first non-gram-positive bacterium exhibiting a LexA binding site identical to that ofB. subtilis.
GAP SOLITONS AND SLOW LIGHT
Authors: CONTI CLAUDIO , ASSANTO GAETANO , TRILLO STEFANO
Published: October 2002

Optical nonlinearity and feedback through Bragg periodicity are the basic ingredients for light localization into gap solitons. We review the basic concepts and model equations for gap solitons in Kerr and quadratic nonlinear media encompassing a one-dimensional Bragg resonance. With specific regard to frequency doubling media, we generalize the concept of a photonic crystal to band-gaps of a nonlinear origin, and finally address the slow character of quadratic gap-solitons with reference to their excitation.
TILTING MODULES OF FINITE PROJECTIVE DIMENSION: SEQUENTIALLY STATIC AND COSTATIC MODULES
Authors: TONOLO ALBERTO
Published: October 2002

In [5], Miyashita introduced tilting modules of finite projective dimension. A tilting module AV of projective dimension less or equal than r furnishes r + 1 equivalences between subcategories of A-Mod and End V-Mod: we call static and costatic the modules in A-Mod and End V-Mod, respectively, involved in these equivalences. In this paper we characterize the modules in A-Mod and End V-Mod which have a filtration with static and costatic factors, respectively.
RECOGNIZING AUTOMORPHISMS OF THE FREE COLOR LIE SUPERALGEBRAS
Authors: KIRAL ERSIN , EKICI NAIME
Published: October 2002

Let L be a finitely generated free color Lie superalgebra. We obtained a criterion in terms of invertibility of the double Jacobian matrix associated with a special element for a given endomorphism of L to be an automorphism.
Importance of open lung biopsy in the diagnosis of invasive pulmonary aspergillosis in patients with hematologic malignancies
Authors: Kim Kihyun , Lee Mark H. , Kim Jingook , Lee Kyung Soo , Kim Sung Min , Jung Man Pyo , Han Joungho , Sung Ki Woong , Kim Won Seog , Jung Chul Won , Yoon Sung Soo , Im Young‐Hyuck , Kang Won Ki , Park Keunchil , Park Chan Hyung
Published: October 2002

Invasive pulmonary aspergillosis is a serious infectious complication in immunocompromised patients. Recent reports indicate its favorable clinical outcomes by early diagnosis with chest computed tomography scan. We retrospectively analyzed our experiences with histopathological evaluation by open lung biopsy in 31 patients (32 cases) with hematologic malignancies, suspected of having invasive pulmonary aspergillosis clinically and radiologically. Although the initial computed tomography findings of all cases were highly indicative of invasive pulmonary aspergillosis by demonstrating nodules or masses with a halo sign (16 cases), segmental area of consolidation with ground‐glass attenuation (7 cases), both nodules or masses with a halo sign and segmental area of consolidation with ground‐glass attenuation (7 cases) and poorly defined centrilobular nodules (2 cases), we could histopathologically confirm invasive fungal infections only in 17 cases (53.1%) by open lung biopsy. There were 13 cases of invasive pulmonary aspergillosis, two cases of aspergilloma, and two cases of mucormycosis. No fungal hyphae were found in the other 15 cases: organizing pneumonia in seven cases, pulmonary hemorrhage in three cases, brochiolitis obliterans with organizing pneumonia in two cases, and CMV pneumonia, pulmonary tuberculosis, candida pneumonia in one case each, respectively. We could perform open lung biopsy without mortality and significant morbidity. In view of the low positive predictive value of chest computed tomography scan and the very low morbidity of open lung biopsy, this procedure is recommendable for the diagnosis of invasive pulmonary aspergillosis and determination of its treatment. Am. J. Hematol. 71:75–79, 2002. © 2002 Wiley‐Liss, Inc.
Testicular plasmacytoma: Report of a case and review of the literature
Authors: Anghel Gabriel , Petti Nicola , Remotti Daniele , Ruscio Carla , Blandino Fortunato , Majolino Ignazio
Published: October 2002

Plasmacytomas of the testis are rare neoplasias; they may occur as isolated tumors or in concomitance with generalized multiple myeloma. We report the case of a 77‐year‐old man with previous clinical evidence of multiple myeloma involving skin, ribs, and lungs, and initially treated with surgery, radiotherapy, and chemotherapy attaining partial response. Fourteen months after the onset, the patient presented with left testicular enlargement due to plasmacytoma. Immunohistochemical stains showed monoclonal cytoplasmic IgA‐λ in tumour cells; serum M component showed the same immunoglobulin. Following radiotherapy the tumour mass disappeared. Nonetheless, 2 months later while on chemotherapy, disease recurred with progressive increase of skeletal lesions. The patient is currently alive with disease progression 22 months after onset. On the basis of a review of the literature, the clinical significance of testicular myeloma localization is discussed. Am. J. Hematol. 71:98–104, 2002. © 2002 Wiley‐Liss, Inc.
Successful treatment of severe thrombotic thrombocytopenic purpura with the monoclonal antibody rituximab
Authors: Chemnitz Jens , Draube Andreas , Scheid Christof , Staib Peter , Schulz Armin , Diehl Volker , Söhngen Dietmar
Published: October 2002

The only established treatment for patients with thrombotic thrombocytopenic purpura (TTP) is plasma exchange against fresh frozen plasma. For cases refractory to plasma exchange, no generally treatment schedule exists. One option is immunosuppressive therapy with corticosteroids and vincristine. Rituximab is a chimeric monoclonal antibody directed against the CD20 antigen, and it has been successfully used in B‐cell malignancies and is being investigated in autoimmune diseases. Its efficacy in TTP has not yet been determined. We report two female patients with severe TTP refractory to multiple courses of plasmapheresis, high‐dose steroid treatment, and vincristine who responded after adding rituximab while continuing plasmapheresis. Am. J. Hematol. 71:105–108, 2002. © 2002 Wiley‐Liss, Inc.
FG syndrome: Linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]
Authors: Dessay Sabine , Moizard Marie Pierre , Gilardi Jean Louis , Opitz John M. , Middleton‐Price Helen , Pembrey Marcus , Moraine Claude , Briault Sylvain
Published: October 2002

FG syndrome (OMIM 305450) is an X‐linked condition comprising mental retardation, congenital hypotonia, constipation or anal malformations, and a distinctive appearance with disproportionately large head, tall and broad forehead, cowlicks and telecanthus. In a first linkage analysis carried out on 10 families, we demonstrated heterogeneity and assigned one gene [FGS1] to region Xq12–q21.31 [Briault et al., 1997: Am J Med Genet 73:87–90] corroborated by Graham et al. [1998: Am J Med Genet 80:145–156]. Heterogeneity was supported by the study of one family with apparent FG syndrome co‐segregating with an inversion of X chromosome [inv(X)(q11q28)] ([FGS2], OMIM 300321) [Briault et al., 1999: Am J Med Genet 86:112–114 and Briault et al., 2000: Am J Med Genet 95:178–181]. We present the results of a new linkage analysis carried out on two families with FG syndrome. The two earlier known loci for FG syndrome, FGS1 and FGS2 (Xq11 or Xq28) were excluded by multipoint analysis of both families. Linkage was found, however, with locus DXS1060 suggesting that a third FG locus might be located at Xp22.3. In this region, two potential candidate genes, VCX‐A and PRKX, were excluded by sequence analysis of the coding region in patients of the two reported FG families. The search for new candidate genes is in progress. © 2002 Wiley‐Liss, Inc.
Dysmorphic features and learning disability in an adult male with pure partial trisomy 17q24‐q25 due to a terminal duplication
Authors: Kelly Brendan D. , Becker Kristin , Kermode Victoria , Stallings Raymond L. , Murphy Raymond P. , Green Andrew J. , Hillery John
Published: October 2002

We describe an adult male with severe learning disability, epilepsy, and dysmorphic features. Cytogenetic studies demonstrated a terminal duplication of the long arm of chromosome 17, resulting in partial trisomy 17q24‐q25. Our patient shows some of the characteristic features of the distal 17q phenotype, but in addition has more unusual features such as epilepsy, sensorineural hearing loss, and long fingers and overlapping toes. We suggest that these features occur with terminal duplications of 17q. © 2002 Wiley‐Liss, Inc.
Subtelomeric FISH uncovers trisomy 14q32: Lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms
Authors: Sutton V. Reid , Coveler Karen J. , Lalani Seema R. , Kashork Catherine D. , Shaffer Lisa G.
Published: October 2002

The recent development of a set of chromosome‐specific, subtelomeric probes has proved useful in diagnosis and recurrence risk counseling of patients and families with mental retardation and in further characterization of known chromosomal abnormalities. Cases of cryptic, subtelomeric rearrangements may account for up to 7.5% of cases of idiopathic moderate–severe mental retardation. We present the molecular cytogenetic studies of trisomy 14q detected by subtelomeric fluorescence in situ hybridization (FISH). Our patient is a 3‐year‐old girl with growth and developmental delay, myelomeningocele, partial agenesis of the corpus callosum, hypertelorism, tented mouth, simple ears, small mandible, and congenital heart disease (atrial and ventricular septal defects with subaortic conus). G‐banded chromosome analysis was apparently normal. A set of FISH‐based, subtelomeric, region‐specific probes revealed trisomy for 14q in the child. Parental FISH studies established that the mother is a balanced carrier for a half‐cryptic translocation between the distal long arm of chromosome 14 and the short arm of chromosome 22. FISH analysis using two BAC clones that contain the imprinted genes MEG3 and DLK1, which localize to 14q32, established that our patient has two maternal copies of these genes. Because the child does not have features of the maternal UPD 14 syndrome, this case suggests that it is absence of expression of a paternally expressed gene, rather than overexpression of a maternally expressed gene, that is responsible for the maternal UPD 14 phenotype. © 2002 Wiley‐Liss, Inc.
P63 gene mutations and human developmental syndromes
Authors: Brunner Han G. , Hamel Ben C.J. , Bokhoven Hans van
Published: October 2002

The P63 gene is a recently discovered member of the p53 family. While P53 is ubiquitously expressed, p63 is expressed specifically in embryonic ectoderm and in the basal regenerative layers of epithelial tissues in the adult. Complete abrogation of P63 gene function in an animal model points to the relevance of P63 for the proper development of ectodermally derived tissues. The p63 knockout mouse dies at birth and has truncation of the limbs, as well as absence of epidermis, prostate, breast, and urothelial tissues, apparently reflecting ectodermal stem cell loss. A number of dominant human syndromes have been mapped to chromosome 3q27 and ultimately to mutations in the p63 gene. These syndromes have abnormal limb development and/or ectodermal dysplasia and include ectrodactyly, ectodermal dysplasia, clefting syndrome; ankyloblepharon, ectodermal dysplasia, clefting syndrome; acro‐dermato‐ungual‐lacrimal‐tooth syndrome; limb‐mammary syndrome; as well as nonsyndromic split hand/foot malformation. The pattern of heterozygous mutations is distinct for each of these syndromes. Consistent with this syndrome‐specific mutational pattern, the functional consequences of mutations on the p63 proteins also vary, invoking dominant‐negative and gain‐of‐function mechanisms rather than a simple loss of function. © 2002 Wiley‐Liss, Inc.
Myoclonus–dystonia syndrome: ε‐sarcoglycan mutations and phenotype
Authors: Asmus Friedrich , Zimprich Alexander , Tezenas Du Montcel Sophie , Kabus Christian , Deuschl Günther , Kupsch Andreas , Ziemann Ulf , Castro Mirna , Kühn Andrea A. , Strom Tim M. , Vidailhet Marie , Bhatia Kailash P. , Dürr Alexandra , Wood Nicholas W. , Brice Alexis , Gasser Thomas
Published: October 2002

Mutations in the gene for ε‐sarcoglycan (SGCE) have been found to cause myoclonus‐dystonia syndrome. We now report clinical and genetic findings in nine additional European families with myoclonus‐dystonia syndrome. The clinical presentation in 24 affecteds was homogeneous with myoclonus predominantly of neck and upper limbs in 23 of them and dystonia, presenting as cervical dystonia and/or writer's cramp, in 13 cases. Six novel and one previously known heterozygous SGCE mutations were identified. SGCE deficiency seems to be the common pathogenetic mechanism in myoclonus‐dystonia syndrome.
A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees
Authors: Arai Aki , Tanaka Keiko , Ikeuchi Takeshi , Igarashi Shuichi , Kobayashi Hisashi , Asaka Tomoya , Date Hidetoshi , Saito Masaaki , Tanaka Hajime , Kawasaki Sari , Uyama Eiichiro , Mizusawa Hidehiro , Fukuhara Nobuyoshi , Tsuji Shoji
Published: October 2002

Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive muscular disorder characterized by weakness of the anterior compartment of the lower limbs with onset in early adulthood and sparing of the quadricep muscles. The UDP‐N‐acetylglucosamine‐2‐epimerase/N‐acetylmannosamine kinase (GNE) gene was recently identified as the causative gene for hereditary inclusion body myopathy (HIBM). To investigate whether DMRV and HIBM are allelic diseases, we conducted mutational analysis of the GNE gene of six Japanese DMRV pedigrees and found that all the pedigrees share a homozygous mutation (V572L) associated with a strong linkage disequilibrium, suggesting a strong founder effect in Japanese DMRV pedigrees.
Role of sand on curing of partex surface by UV radiation
Authors: Mizanur Rahman M. , Khan Mubarak A. , Mustafa A. I.
Published: October 2002

A partex surface was modified by a UV‐curing system with epoxy acrylate (EB‐600). A set of formulations was prepared with oligomer and the trifunctional monomer trimethylol propane triacrylate in different combinations of percentages (1–5%) of sand to study the role of sand in various physical properties of UV‐cured thin films, as well as partex surfaces. Increased pendulum hardness (PH), gloss, adhesion, and abrasion values were obtained by the addition of sand into the partex surfaces. The best results were obtained with the formulation containing 3% sand. An enhanced PH and a decreased percentage of gel content of the UV‐cured film was observed with an increase of the sand concentration. A simulated weathering test was performed with partex surfaces cured by a formulation containing 3% sand in the base coat. The losses of the physical properties were found to be lower over the surface treated with the formulation containing sand. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2385–2392, 2002
A study on morphology and physical properties of natural–acrylic rubber blends
Authors: Wootthikanokkhan J. , Tongrubbai B.
Published: October 2002

Morphology and physical properties of natural–acrylic rubber blends were investigated as a function of blend compositions and mixing methods. In the first method, the masticated natural rubber was cross‐blended with the acrylic rubber for 15 min, followed by a sequential addition of vulcanizing chemicals (ZnO, stearic acid, MBT, sodium stearate, and sulfur), and the mixing was terminated within 15 min. In the second method, the masticated natural rubber was premixed with its relevant vulcanizing chemicals (excepting the sulfur) for 7 min, followed by blending it with the acrylic rubber and sodium stearate for 20 min. Finally, the sulfur was added and the mixing was continued for further 3 min before termination. The resulting blends were vulcanized to their optimum cure time in a compression mold. The rubber sheet was cut into a dumbbell‐shaped specimen, and tensile properties were determined at a cross‐head speed of 500 mm/min. The morphology of the blends was examined with scanning electron microscopy (SEM). The SEM specimen was prepared by cryo‐fracturing, followed by staining with OsO4. It was found that all of the rubber blends were immiscible, as shown by there being two separated phases in the SEM micrographs. The result was in a good agreement with that from a thermal analysis (using a differential scanning calorimeter), which showed two glass transition temperatures. Morphology of the rubber blends changed from a cocontinuous morphology to a dispersed particle morphology as the natural rubber content was increased from 20% to 80% by weight. Increasing the natural rubber content enhanced tensile properties of the rubber blends at the expense of their oil and heat resistance. Most of these properties being examined seemed to be unaffected by the mixing method, with the exception of the retention of tensile strain after aging. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 1532–1539, 2002
Mechanical properties and fracture behavior of blends of acrylonitrile–butadiene–styrene copolymer and crystalline engineering plastics
Authors: Liu Xiaodong , Boldizar Antal , Rigdahl Mikael , Bertilsson Hand
Published: October 2002

The aim of this investigation was to evaluate the possibility of mechanically recycling blends of ABS with minor amounts of semicrystalline engineering plastics, such as polyamide, poly(ethylene terephthalate), and poly(butylene terephthalate). Compatibilizers and a core–shell impact modifier were incorporated into the blends in order to improve the mechanical properties. The toughness values, measured by the J‐integral method, and the Charpy impact strength did not always exhibit consistent results, due to the significant difference in deformation rate and in fracture mechanism. The formation of co‐continuous structures in the blends were noted and discussed. The fibrillation in the fracture surface contributed to the toughness as measured by the J‐integral method. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2435–2448, 2002
Mechanical property and morphology comparison between the two blends poly(propylene)/ethylene‐propylene‐diene monomer elastomer and poly(propylene)/maleic anhydride‐g‐ethylene‐propylene‐diene monomer
Authors: Zhao Ruofei , Dai Gance
Published: October 2002

The comparison of the mechanical properties between poly(propylene)/ethylene‐propylene‐diene monomer elastomer (PP/EPDM) and poly(propylene)/maleic anhydride‐g‐ethylene‐propylene‐diene monomer [PP/MEPDM (MAH‐g‐EPDM)] showed that the latter blend has noticeably higher Izod impact strength but lower Young's modulus than the former one. Phase morphology of the two blends was examined by dynamic mechanical thermal analysis, indicating that the miscibility of PP/MEPDM was inferior to PP/EPDM. The poor miscibility of PP/MEPDM degrades the nucleation effectiveness of the elastomer on PP. The observations of the impact fracture mode of the two blends and the dispersion state of the elastomers, determined by scanning electron microscopy, showed that PP/EPDM fractured in a brittle mode, whereas PP/MEPDM in a ductile one, and that a finer dispersion of MEPDM was found in the blend PP/MEPDM. These observations indicate that the difference in the dispersion state of elastomer between PP/EPDM and PP/MEPDM results in different fracture modes, and thereby affects the toughness of the two blends. The finer dispersion of MEPDM in the blend of PP/MEPDM was attributed to the part cross‐linking of MEPDM resulting from the grafting reaction of EPDM with maleic anhydride (MAH) in the presence of dicumyl peroxide (DCP). © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2486–2491, 2002
Effect of nucleating agents on the crystallization of poly(3‐hydroxybutyrate‐co‐3‐hydroxyvalerate)
Authors: Liu W. J. , Yang H. L. , Wang Z. , Dong L. S. , Liu J. J.
Published: October 2002

The effect of nucleating agents on the crystallization behavior of poly(3‐hydroxybutyrate‐co‐3‐hydroxyvalerate) (PHBV) was studied. A differential scanning calorimeter was used to monitor the energy of the crystallization process from the melt and melting behavior. During the crystallization process from the melt, nucleating agent led to an increase in crystallization temperature (Tc) of PHBV compared with that for plain PHBV (without nucleating agent). The melting temperature of PHBV changed little with addition of nucleating agent. However, the areas of two melting peaks changed considerably with added nucleating agent. During isothermal crystallization, dependence of the relative degree of crystallization on time was described by the Avrami equation. The addition of nucleating agent caused an increase in the overall crystallization rate of PHBV, but did not influence the mechanism of nucleation and growth of the PHB crystals. The equilibrium melting temperature of PHBV was determined as 187°C. Analysis of kinetic data according to nucleation theories showed that the increase in crystallization rate of PHBV in the composite is due to the decrease in surface energy of the extremity surface. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2145–2152, 2002
Preparation, characterization, and mechanical properties of some microcellular polysulfone foams
Authors: Sun Hongliu , Mark James E.
Published: October 2002

Several polymers were evaluated as candidates for the production of high‐performance microcellular closed‐cell foams. The polymers involved were a polysulfone, a polyethersulfone, a polyphenylsulfone, a polyetherimide, and a poly(ether ketone ketone), and their suitability was gauged by measuring rates at which they could be impregnated with carbon dioxide under pressure at room temperature. This step is essential to the subsequent step of heating the impregnated samples at various temperatures to create foamed structures. The present study focused primarily on the use of the polysulfone in this regard. Microcellular foams of this polymer were found to have average cell sizes in the range 1–10 μm and cell densities on the order of 1010–1014cells/cm3. The microstructures of these foamed samples were controlled through careful choices of the foaming temperature and the foaming speed to produce a wide range of foam densities. Since these materials were prepared for possible use as structural materials, tensile tests were conducted to investigate the dependence of some of their mechanical properties on the foam densities (relative to those of the unfoamed polymer). The results indicated that the tensile moduli of these polysulfone foams increased with the square of their relative densities, and the tensile strengths were proportional to these densities. Both of these experimental findings are in agreement with theory. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 1692–1701, 2002
Studies on dielectric relaxation and ac conductivity of cellulose acetate hydrogen phthalate–poly (vinyl pyrrolidone) blend
Authors: Rao Vijayalakshmi , Ashokan P. V. , Amar J. V.
Published: October 2002

The dielectric constant, dielectric loss, and ac conductivity of polyblends of cellulose acetate hydrogen phthalate (CAP) and poly (vinyl pyrrolidone) (PVP) of different compositions were measured in the temperature range of 300–430 K and in the frequency range of 50 Hz–100 kHz. In the blends, the dielectric constant as well as the dielectric loss as a function of the temperature display a single peak corresponding to the glass transition temperature (Tg) in the region between the Tg values of the pure polymers. The Tg values observed agree well with those values obtained from DSC. Dielectric studies show that CAP forms a miscible blend with PVP. Ac conductivity values were calculated from the dielectric data and the conduction mechanism is discussed. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 1702–1708, 2002
Synthesis and characterization of electrically conducting copolymer of aniline and o‐bromoaniline using methane sulfonic acid as dopant
Authors: Roy Bidhan C. , Gupta Maya Dutta , Bhowmik Leena , Ray Jayanta K.
Published: October 2002

Polyaniline (PAN), poly(o‐bromoaniline) (POBA), and poly(aniline‐co‐o‐bromoaniline) (PABA) were synthesized by oxidative coupling. These polymers are protonated by 10–20% methane sulfonic acid (MSA) and 1M HCl. The new polymer bases have greater solubility than that of PAN in common polar organic solvents; PAN–MSA was observed to be the most thermally stable of these polymers. POBA is associated with residual quinoid diimine units as illustrated in the IR and UV‐vis spectra, after reduction with hydrazine dihydrochloride. Both the doping agents cause a downward shift of the quinoid absorption in the IR spectra. MSA‐ and HCl‐doped PAN and PABA polymers exhibit a coil‐like conformation in DMSO, whereas only MSA‐doped PAN and PABA show an “expanded coil‐like” conformation in m‐cresol with a “free carrier tail” above 800 nm in their electronic spectra. XPS spectra indicated the presence of covalent bromine in the POBA and PABA polymers. Bromine retention was greater in the homopolymer as evidenced by the IR studies after aging at 350°C. Compared to HCl, MSA is found to be a more effective dopant, enhancing the conductivity of the copolymers by 102–103 times in magnitude. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2662–2669, 2002
Preparation and characterization of the copolymers obtained by grafting of monoacryloxyethyl phosphate onto polytetrafluoroethylene membranes and poly(tetrafluoroethylene‐co‐hexafluoropropylene) films
Authors: Grøndahl Lisbeth , Cardona Francisco , Chiem Khang , Wentrup‐Byrne Edeline
Published: October 2002

Two fully fluorinated polymers, poly(tetrafluoroethylene) (PTFE) membranes and poly(tetrafluoroethylene‐co‐hexafluoropropylene) (FEP) films, were modified by graft copolymerization with monoacryloxyethyl phosphate (MAEP) in an aqueous solution at ambient temperature using gamma irradiation. The modified membranes were characterized by XPS, FTIR, and phosphate analysis. A correlation between peak heights in the FTIR PAS spectra and the overall grafting yield was found. Neither the surface coverage (as obtained from XPS multiplex scans) nor the overall grafting yield (as obtained from phosphate analysis) showed simple correlations on the monomer concentrations (20–40%) or the irradiation doses (25–150 kGy) within the ranges investigated. Similar surface coverage was achieved on the PTFE membranes and on the FEP films. In contrast, the overall grafting yields were significantly higher for the PTFE membranes than for the FEP films. The high porosity of the PTFE membranes is the most likely explanation for these differences in grafting. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2550–2556, 2002
Pervaporative separation of a 1‐methoxy propanol and water mixture
Authors: Mandal Sangita , Pangarkar Vishwas G.
Published: October 2002

The pervaporative dehydration of ether derivatives of alcohol, such as 1‐methoxy propanol (MP) and water mixtures, was studied with polyimide (PI), cellophane, poly(vinyl alcohol) (PVA), cellulose diacetate (CDA), cellulose triacetate, two separate blends of cellulose acetate and CDA with cellulose acetate propionate, and PVA crosslinked with multifunctional crosslinkers. The effects of different substitution derivatives of cellulosic materials were investigated. Membranes of PVA and citric acid and of PVA and maleic anhydride were studied with respect to the effect of the crosslinker and its loading. Among all the hydrophilic membranes, PI gave the best selectivity but poor flux. Poly(dimethylsiloxane) (PDMS) and linear low‐density polyethylene (LLDPE) membranes were invoked for the selective permeation of comparatively weaker hydrophilic components. PDMS showed acceptable results for MP separation in terms of both flux and selectivity. LLDPE yielded better selectivity but very poor MP flux. All these membranes were stable, and no changes in their properties were observed over the entire range of concentration at 30°C. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2194–2210, 2002