bluuebunny/crossref_metadata_2025_split huggingface dataset:
Experiential Family Therapy: An Innovative Approach to the Resolution of Family Conflict in Genetic Counseling
Authors: Tuttle Lisa C. 
Published: April 2003

AbstractExperiential family therapy is an intuitive approach that utilizes active, multisensory techniques. These techniques, such as role plays and drawings, increase the family's expression of affect and uncover new information. Increased affect and uncovered information stimulate change and growth in the family system. Experiential techniques are especially useful when more traditional, verbal‐based communication is not effective. In this article, I will present a pediatric case in which the patient, a 7‐year‐old boy diagnosed with autism, was referred to the genetics clinic to rule out the presence of an associated genetic disorder. I will then describe a hypothetical second counseling session with the same family and suggest how three experiential family therapy techniques: family drawing, “empty chair” technique, and continuums might be used in the session to help resolve a marital conflict between the patient's parents.
Interventions for trauma‐related emotional disturbances in adult victims of crime
Authors: Hembree Elizabeth A. , Foa Edna B. 
Published: April 2003

AbstractThis paper provides an overview of several treatment interventions for trauma‐related disturbances in adult victims of crime. Following a brief discussion of mental health service utilization among crime victims, we describe interventions for acute and chronic reactions to trauma. We present some controlled studies of psychosocial treatments for posttraumatic stress disorder (PTSD) that have gained empirical support and are recommended as first line interventions by expert consensus (E. B. Foa, J. R. T. Davidson, & A. Francis, 1999) including exposure therapy, cognitive therapy, and stress inoculation training, followed by a brief summary of selected studies examining the efficacy of pharmacological treatment for PTSD. Finally, we discuss multicultural issues, factors associated with treatment outcome, and challenges we have encountered in treating crime victims.
Reproductive Genetic Counseling to Asian‐Pacific and Latin American Immigrants
Authors: Mittman Ilana , Crombleholme William R. , Green James R. , Golbus Mitchell S. 
Published: April 2003

AbstractLatin and Asian‐Pacific immigrants are the fastest growing new‐comer groups in the U.S. contributing to 85% of immigration totals. New immigrants experience multiple barriers to accessing genetic counseling resulting from cultural, linguistic, financial, and educational factors as well as having unique perceptions on health, illness, reproduction, and life as a whole. In addition, new immigrants lack familiarity with Western medical practices as well as genetic risk and available interventions. We provided perinatal genetic services to 2430 clients, mostly new immigrants of Latin and Asian‐Pacific descent over a period of 6 years. Counseling aides sharing the clients' cultural backgrounds were employed. A study assessing the efficacy of cross‐cultural education regarding advanced maternal age risk and amniocentesis was implemented and linked to a database containing demographic and clinical information. Practical observations relating to cultural beliefs in the two groups relevant to perinatal genetic counseling were made.
Contextual Factors Affecting the Organizational Commitment of Diverse Police Officers: A Levels of Analysis Perspective
Authors: Morris Anne , Shinn Marybeth , DuMont Kimberly 
Published: April 2003

AbstractThis study examined the relationship of contextual factors to organizational commitment among 372 police officers in 13 police commands in New York City's public housing projects. Setting‐level variables were formed by aggregating officers' perceptions of management support and fairness and management sensitivity to diversity within commands and within three subgroups formed by gender and ethnicity. Individual‐level measures were deviations from these subgroup means within commands as well as perceptions of support from family and social support and negative interactions within commands. Overall, path analyses, confirmed by hierarchical linear modeling, showed direct setting‐level effects for management support and fairness, but not for sensitivity to diversity, on organizational commitment. Both women and minority men experienced more negative social interactions than white men; support from management, co‐workers, and family were important predictors of commitment. Family support was particularly important for women.
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia
Authors: Briones P. , Vilaseca M. A. , Schollen E. , Ferrer I. , Maties M. , Busquets C. , Artuch R. , Gort L. , Marco M. , van Schaftingen E. , Matthijs G. , Jaeken J. , Chabás A. 
Published: April 2003

AbstractSummary: We present our experience with the diagnosis of 26 patients (19 families) with congenital disorders of glycosylation classified as type Ia due toPMM deficiency. In all but one of these CDG Ia families the patients are compound heterozygous for mutations in PMM2. Eighteen different mutations were detected. In contrast to other series in which R141H represents 43–50% of the alleles, only 9/36 (25%) alleles have this mutation. Two mutations (R123Q andT237M) have been found on three disease chromosomes, four (V44A, Y64C, P113L and F207S) on two disease chromosomes and 12 mutations (D65Y, Y76C, IVS3+2C>T, E93A, R123X, V129M, I153T, F157S, E197A, N216I, T226S, C241S) only on one disease chromosome. V44A and D65Y probably originated in the Iberian peninsula, as they have only been reported in Portuguese and Latin‐American patients; Y64C, Y76C, R123X and F207S have not been detectedin other patients. R123X is the only stop codon mutation so far describedin PMM2. The common European F119L mutation has not been found in our patients, although it is very frequent in other populations (43% allele frequency in Danish patients). Probably because of this genetic heterogeneity, Spanish patients show very diverse phenotypes that are, in general, milder than in other series. This pointsto the necessity of widening the criteria for CDG in the routine screening for inborn metabolic diseases.
A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease
Authors: Kroepfl Th. , Paul K. , Kotanko P. , Plecko B. , Paschke E. 
Published: April 2003

AbstractSummary: A male patient presented with oligosymptomatic Fabry disease (end stage renal failure and non‐obstructive cardiomyopathy) at around 30 years of age. His leukocyte α‐galactosidase activity (α‐gal) was 2.6% of controls. A 50‐year‐old sister had similar cardiac symptoms and her asymptomatic heterozygous daughter (33 years) had normal enzyme activity.All three patients carried a novel, 6bp insertion on exon 7 of the AGAL gene. The majority of male Fabry patients carrying mutations in exon 7 have residual α‐gal below 1% and suffer from neuropathic pain. Comparable oligosymptomatic phenotypes in Caucasian patients carry a common mutation on exon 6 (R301Q) and have a significantly later onset.The course of the disease is likely to be altered by recombinant enzyme therapy in the future. Therefore, a thorough documentation of phenotypes, residual activities and underlying genotypes is of current interest.
Case Report: A Systems Approach to Genetic Counseling for Albinism
Authors: Kim Kathryn Spitzer 
Published: April 2003

AbstractA systems approach to family therapy assumes that a person and his/her problems do not operate in a social vacuum but instead are imbedded in a social context. This context includes fairly small social systems such as a nuclear family and larger social systems such as school systems and cultural beliefs. A case of a girl with albinism born to a couple from India will be used to discuss how a systems approach might be useful in a genetic counseling setting.
Acculturation in Women with Mental Retardation and Its Impact on Genetic Counseling
Authors: Finucane Brenda 
Published: April 2003

AbstractThe provision of genetic counseling to women with mild mental retardation poses many challenges, some directly related to their developmental and cognitive disabilities. Traditional genetic counseling models, in which decision‐making is largely based on the understanding of factual information, are particularly affected by the intellectual limitations which characterize this population. Equally important, however, are these women's attitudes, perceptions, and behaviors related to their involuntary inclusion into a highly stigmatized social group. Common themes among these women which surface in the genetic counseling setting include the denial of mental retardation, a hierarchical perception of their own and others' disabilities, and a strong motivation to conceive and parent a child. Such attitudes and behaviors may be symptomatic of acculturation, as these women struggle to take on accepted social roles while rejecting the stigma of intellectual disability. In contrast to factual information, the counselee's ability to discuss emotions and perceptions is not necessarily hampered by her intellectual limitations. A focus on the recognition and discussion of psychosocial issues provides a more meaningful approach than traditional genetic counseling models for facilitating informed reproductive decisions among women with mental retardation.
Clinical features of galactokinase deficiency:A review of the literature
Authors: Bosch A. M. , Bakker H. D. , van Gennip A. H. , van Kempen J. V. , Wanders R. J. A. , Wijburg F. A. 
Published: April 2003

AbstractSummary: Galactokinase deficiency (McKusick 230200) is a rare autosomal recessive inborn error of galactose metabolism. Cataract and, rarely, pseudotumor cerebri caused by galactitol accumulation seem to be the only consistently reported abnormalities in this disorder. We performed a literature search to obtain information on the clinical spectrum of galactokinase deficiency. A total of 25 publications were traced describing 55 galactokinase‐deficient patients. Cataract was reported in most patients. Clinical abnormalities other than cataract were reported in 15 (35%) out of 43 cases on which information was available. However, all symptoms were reported infrequently and a causal relationship with the galactokinase deficiency is unlikely. As cataract and pseudotumor cerebri appear to be the sole complications of galactokinase deficiency, the outcome for patients with galactokinase deficiency is much better than for patients with classical galactosaemia (McKusick 230400), a more common autosomal recessive disorder of galactose metabolism caused by galactose‐1‐phosphate uridyltransferase (GALT; EC 2.7.7.12) deficiency. Long‐term follow‐up of patients with this disorder has shown that, in spite of a severely galactose‐restricted diet, most patients develop abnormalities such as a disturbed mental and/or motor development, dyspraxia and hypergonadotropic hypogonadism. Endogenous production of galactose has been considered an important aetiological factor. Although damage may well occur inutero, available evidence suggests that damage will continue after birth. Inhibition of galactokinase may then be a promising approach for controlling damage in GALT‐deficient patients.
Duty to Re‐Contact: A Study of Families at Risk for Fragile X
Authors: Bernard Lynn E. , McGillivray Barbara , Van Allen Margot I. , Friedman J. M. , Langlois Sylvie 
Published: April 2003

AbstractDNA testing for Fragile X syndrome is now routinely available through a large number of diagnostic laboratories. We have surveyed individuals from British Columbia Fragile X families identified prior to the availability of DNA testing for FMR1 to determine if they are subsequently receiving information about DNA testing. Of the 78 individuals first seen before the cloning of the FMR1 gene, 39 (50%) had not been seen in the clinic to discuss DNA testing. We initiated a contact program with these 39 patients to determine their interest in DNA testing. Contact was made with 28 individuals, 20 of whom stated interest in testing either for themselves or for a relative. Patient opinions about DNA testing were assessed through questionnaires. In those individuals who stated an interest in DNA testing, the most common reason for wishing testing was to provide information to children or grandchildren. The most common disadvantages of testing indicated by this group were that they had finished their families and that they felt the test would not have a direct impact. The most common reasons individuals were not interested in DNA testing were that there were no family members appropriate to test and that the respondent had completed his or her family. DNA testing has been performed for 13 of the 28 (46%) contacted individuals and/or at least one relative. In view of the high level of interest for testing in families who had not been seen since the cloning of the FMR1 gene, we feel that FMR1 screening programs should include actively contacting previously seen individuals.
Mental health needs of crime victims: Epidemiology and outcomes
Authors: Kilpatrick Dean G. , Acierno Ron 
Published: April 2003

AbstractThis paper reviews epidemiological estimates of criminal victimization derived largely from nationally based studies in the United States. Origins of conflicting rates and prevalences are explained in terms of varying methodology. Risk factors for victimization, including age, race, gender, and disability, are also outlined, and derived from both national and geographically limited U.S.‐based studies. Finally, mental health outcomes of violence are documented, with conclusions drawing on both national and regionally specific studies. These outcomes focus on posttraumatic stress disorder, but also include depression, substance abuse, and panic.
Identification of
Streptomyces coelicolor
Proteins That Are Differentially Expressed in the Presence of Plant Material
Authors: Langlois P. , Bourassa S. , Poirier G. G. , Beaulieu C. 
Published: April 2003

ABSTRACT

Streptomyces coelicolor
and
Lemna minor
were used as a model to study the modulation of bacterial gene expression during plant-streptomycete interactions.
S. coelicolor
was grown in minimal medium with and without
L. minor
fronds. Bacterial proteomes were analyzed by two-dimensional gel electrophoresis, and a comparison of the two culture conditions resulted in identification of 31 proteins that were induced or repressed by the presence of plant material. One-half of these proteins were identified by peptide mass fingerprinting by using matrix-assisted laser desorption ionization-time of flight mass spectrometry. The induced proteins were involved in energetic metabolism (glycolysis, pentose phosphate pathway, oxidative phosphorylation), protein synthesis, degradation of amino acids, alkenes, or cellulose, tellurite resistance, and growth under general physiological or oxidative stress conditions. The repressed proteins were proteins synthesized under starvation stress conditions. These results suggest that root exudates provide additional carbon sources to the bacteria and that physiological adaptations are required for efficient bacterial growth in the presence of plants.
mRNA Extraction and Reverse Transcription-PCR Protocol for Detection of
nifH
Gene Expression by
Azotobacter vinelandii
in Soil
Authors: Bürgmann Helmut , Widmer Franco , Sigler William V. , Zeyer Josef 
Published: April 2003

ABSTRACT

The study of free-living nitrogen-fixing organisms in bulk soil is hampered by the great diversity of soil microbial communities and the difficulty of relating nitrogen fixation activities to individual members of the diazotroph populations. We developed a molecular method that allows analysis of
nifH
mRNA expression in soil in parallel with determinations of nitrogen-fixing activity and bacterial growth. In this study,
Azotobacter vinelandii
growing in sterile soil and liquid culture served as a model system for
nifH
expression, in which sucrose served as the carbon source and provided nitrogen-limited conditions, while amendments of NH
4
NO
3
were used to suppress nitrogen fixation. Soil RNA extraction was performed with a new optimized direct extraction protocol that yielded nondegraded total RNA. The RNA extracts were of high purity, free of DNA contamination, and allowed highly sensitive and specific detection of
nifH
mRNA by a reverse transcription-PCR. The level of
nifH
gene expression was estimated by PCR amplification of reverse-transcribed
nifH
mRNA fragments with
A. vinelandii
-specific
nifH
primers. This new approach revealed that
nifH
gene expression was positively correlated with bulk nitrogen fixation activity in soil (
r
2
= 0.72) and in liquid culture (
r
2
= 0.84) and therefore is a powerful tool for studying specific regulation of gene expression directly in the soil environment.
Enumeration and Characterization of Acidophilic Microorganisms Isolated from a Pilot Plant Stirred-Tank Bioleaching Operation
Authors: Okibe Naoko , Gericke Mariekie , Hallberg Kevin B. , Johnson D. Barrie 
Published: April 2003

ABSTRACT

Microorganisms were enumerated and isolated on selective solid media from a pilot-scale stirred-tank bioleaching operation in which a polymetallic sulfide concentrate was subjected to biologically accelerated oxidation at 45°C. Four distinct prokaryotes were isolated: three bacteria (an
Acidithiobacillus caldus
-like organism, a thermophilic
Leptospirillum
sp., and a
Sulfobacillus
sp.) and one archaeon (a
Ferroplasma
-like isolate). The relative numbers of these prokaryotes changed in the three reactors sampled, and the
Ferroplasma
isolate became increasingly dominant as mineral oxidation progressed, eventually accounting for >99% of plate isolates in the third of three in-line reactors. The identities of the isolates were confirmed by analyses of their 16S rRNA genes, and some key physiological traits (e.g., oxidation of iron and/or sulfur and autotrophy or heterotrophy) were examined. More detailed studies were carried out with the
Leptospirillum
and
Ferroplasma
isolates. The data presented here represent the first quantitative study of the microorganisms in a metal leaching situation and confirm that mixed cultures of iron- and sulfur-oxidizing prokaryotic acidophiles catalyze the accelerated dissolution of sulfidic minerals in industrial tank bioleaching operations. The results show that indigenous acidophilic microbial populations change as mineral dissolution becomes more extensive.
Kraft Pulp Biobleaching and Mediated Oxidation of a Nonphenolic Substrate by Laccase from
Streptomyces cyaneus
CECT 3335
Authors: Arias M. Enriqueta , Arenas María , Rodríguez Juana , Soliveri Juan , Ball Andrew S. , Hernández Manuel 
Published: April 2003

ABSTRACT

A new laccase (EC 1.10.3.2) produced by
Streptomyces cyaneus
CECT 3335 in liquid media containing soya flour (20 g per liter) was purified to homogeneity. The physicochemical, catalytic, and spectral characteristics of this enzyme, as well as its suitability for biobleaching of eucalyptus kraft pulps, were assessed. The purified laccase had a molecular mass of 75 kDa and an isoelectric point of 5.6, and its optimal pH and temperature were 4.5 and 70°C, respectively. The activity was strongly enhanced in the presence of Cu
2+
, Mn
2+
, and Mg
2+
and was completely inhibited by EDTA and sodium azide. The purified laccase exhibited high levels of activity against 2,2′-azino-bis(3-ethylbenzothiazoline-6-sulfonate) (ABTS) and 2,6-dimethoxyphenol and no activity against tyrosine. The UV-visible spectrum of the purified laccase was the typical spectrum of the blue laccases, with an absorption peak at 600 nm and a shoulder around 330 to 340 nm. The ability of the purified laccase to oxidize a nonphenolic compound, such as veratryl alcohol, in the presence of ABTS opens up new possibilities for the use of bacterial laccases in the pulp and paper industry. We demonstrated that application of the laccase from
S. cyaneus
in the presence of ABTS to biobleaching of eucalyptus kraft pulps resulted in a significant decrease in the kappa number (2.3 U) and an important increase in the brightness (2.2%, as determined by the International Standard Organization test) of pulps, showing the suitability of laccases produced by streptomycetes for industrial purposes.
Evolutionary Engineering of
Saccharomyces cerevisiae
for Anaerobic Growth on Xylose
Authors: Sonderegger Marco , Sauer Uwe 
Published: April 2003

ABSTRACT

Xylose utilization is of commercial interest for efficient conversion of abundant plant material to ethanol. Perhaps the most important ethanol-producing organism,
Saccharomyces cerevisiae
, however, is incapable of xylose utilization. While
S. cerevisiae
strains have been metabolically engineered to utilize xylose, none of the recombinant strains or any other naturally occurring yeast has been able to grow anaerobically on xylose. Starting with the recombinant
S. cerevisiae
strain TMB3001 that overexpresses the xylose utilization pathway from
Pichia stipitis
, in this study we developed a selection procedure for the evolution of strains that are capable of anaerobic growth on xylose alone. Selection was successful only when organisms were first selected for efficient aerobic growth on xylose alone and then slowly adapted to microaerobic conditions and finally anaerobic conditions, which indicated that multiple mutations were necessary. After a total of 460 generations or 266 days of selection, the culture reproduced stably under anaerobic conditions on xylose and consisted primarily of two subpopulations with distinct phenotypes. Clones in the larger subpopulation grew anaerobically on xylose and utilized both xylose and glucose simultaneously in batch culture, but they exhibited impaired growth on glucose. Surprisingly, clones in the smaller subpopulation were incapable of anaerobic growth on xylose. However, as a consequence of their improved xylose catabolism, these clones produced up to 19% more ethanol than the parental TMB3001 strain produced under process-like conditions from a mixture of glucose and xylose.
Isolation and Antifungal and Antioomycete Activities of Aerugine Produced by
Pseudomonas fluorescens
Strain MM-B16
Authors: Lee Jung Yeop , Moon Surk Sik , Hwang Byung Kook 
Published: April 2003

ABSTRACT

The bacterial strain MM-B16, which showed strong antifungal and antioomycete activity against some plant pathogens, was isolated from a mountain forest soil in Korea. Based on the physiological and biochemical characteristics and 16S ribosomal DNA sequence analysis, the bacterial strain MM-B16 was identical to
Pseudomonas fluorescens
. An antibiotic active against
Colletotrichum orbiculare
and
Phytophthora capsici
in vitro and in vivo was isolated from the culture filtrates of
P. fluorescens
strain MM-B16 using various chromatographic procedures. The molecular formula of the antibiotic was deduced to be C
10
H
11
NO
2
S (M
+
,
m/z
209.0513) by analysis of electron impact mass spectral data. Based on the nuclear magnetic resonance and infrared spectral data, the antibiotic was confirmed to have the structure of a thiazoline derivative, aerugine [4-hydroxymethyl-2-(2-hydroxyphenyl)-2-thiazoline].
C. orbiculare
,
P. capsici
, and
Pythium ultimum
were most sensitive to aerugine (MICs for these organisms were approximately 10 μg ml
−1
). However, no antimicrobial activity was found against yeasts and bacteria even at concentrations of more than 100 μg ml
−1
. Treatment with aerugine exhibited a significantly high protective activity against development of phytophthora disease on pepper and anthracnose on cucumber. However, the control efficacy of aerugine against the diseases was in general somewhat less than that of the commercial fungicides metalaxyl and chlorothalonil. This is the first study to isolate aerugine from
P. fluorescens
and demonstrate its in vitro and in vivo antifungal and antioomycete activities against
C. orbiculare
and
P. capsici
.