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PubMed1986

[Prenatal diagnosis of mucoviscidosis: biochemical technics and studies of affected fetuses].

The prenatal diagnosis of cystic fibrosis is based on microvillar enzymes values in amniotic fluid taken by amniocentesis at precisely the 17-18 weeks gestation age (15-16 weeks developmental age). In pregnancies with a cystic fibrosis affected fetus the values of the enzymes are depressed. Since microvillar enzymes are normal constituents of amniotic fluid, it is important 1. to have highly reproducible techniques and 2. to determine the range of the normal values and their variations in relation to the development of the fetus. Prenatal diagnosis was performed in more than 200 pregnancies with a 1 in 4 risk of cystic fibrosis and was based on significant modifications of 6 amniotic fluid enzymes values: gamma-glutamyl-transpeptidase, aminopeptidase and alkaline phosphatase (total and isoenzymes). Normal outcome was predicted in 135 pregnancies reaching term, 133 babies were normal and 2 were affected. On the basis of significantly abnormal enzymatic values an affected fetus was predicted in 57 pregnancies, 3 went to term, the infants were affected, 54 were terminated and the diagnosis of cystic fibrosis was confirmed in the examined fetuses. The decrease in amniotic fluid microvillar enzymes values is the result of an obstruction of the terminal ileum. Fetuses affected with cystic fibrosis developed an intestinal obstruction around the 15th week of developmental age which can be seen by ultrasound scanning in about fifty per cent of the cases. This obstruction persists in some fetuses and leads to a meconium ileus at birth.

Alkaline Phosphatase↗
PubMed1987

2'Deoxycoformycin and deoxyadenosine affect IL 2 production and IL 2 receptor expression of human T cells.

Congenital deficiency of the enzyme adenosine deaminase (ADA) leads to severe combined immunodeficiency. 2'Deoxycoformycin (dCF), a tightly binding inhibitor of ADA, can induce the metabolic state of ADA deficiency. In vivo, the drug causes specific impairment of lymphocyte function and shows strong immunosuppressive properties. However, to decide whether inhibition of the enzyme ADA offers an attractive approach for immunosuppressive therapy, more information is needed about the immunologic mechanisms affected. In human T cells, we investigated the effect of dCF and deoxyadenosine (AdR) on cell activation, interleukin 2 (IL 2) production, and IL 2 receptor induction after allogeneic and lectin-induced stimulation. After allogeneic stimulation, dCF and AdR affected several events in T cellular immune response. Early events in T cell activation showed to be most sensitive to the drugs. Primary MLC was completely inhibited by concentrations as low as 1 microM dCF and 1 microM AdR. The addition of human recombinant IL 2 (rIL 2) could not abrogate the inhibitory effect of the drugs. Apart from activation of T cells, the drugs interfered with proliferation of activated T cells. Two events in activated T cells were affected: IL 2 production and IL 2 receptor expression. In secondary MLC, IL 2 production was markedly reduced in the presence of 9 microM dCF and 60 microM AdR. These concentrations appeared also to affect IL 2 receptor expression in 12-day primary MLC cells stimulated with rIL 2. Lectin stimulation was also affected by the drugs. In phytohemagglutinin (PHA)-stimulated cultures, 9 microM dCF and 60 microM AdR resulted in inhibition of proliferation and IL 2 receptor expression, whereas IL 2 production was normal. It is concluded that dCF and AdR interfere with several events in T cellular immune response such as cell activation, IL 2 production, and IL 2 receptor expression. According to these results, inhibition of the enzyme ADA seems an attractive approach to immunosuppressive therapy.

Animals↗
PubMed1985

Ultrasound characteristics of myocardial hypertrophy in patients affected by hypertrophic cardiomyopathy.

A study of the extent and local distribution of the heart muscle hypertrophy affecting the left ventricle and the septum has been performed in 70 hypertrophic cardiomyopathy patients. According to these signs the patients have been distributed into 5 types. Type I, where the hypertrophy affected only the interventricular septum, appeared in 14.2% of the cases. In type IIa the anterior wall of the ventricle was simultaneously affected (37.1%), in type IIb it was also the lateral wall of the ventricle (30.0%). Type III manifested hypertrophy of the posterior wall (4.3%), type IV affected the apical portion of the left ventricle (8.5% of the patients). Under the heading of type V there figured patients who had a concentric hypertrophy of the whole left ventricle including the septum (5.7%). Among the obstructive forms we revealed especially the types Ia, IIa, IIb. Using the M-mode alone, detection of the hypertrophy was impossible in such patients who had isolated affection of the dorsal part of the septum, the anterolateral or the apical portion of the left ventricle (type Ib, IV and some of the type IIa and IIb patients--a total of 13%). Signs of asymmetrical septal hypertrophy were lacking in 23% of the patients.

Adolescent↗
PubMed1988

[Affective disorders in patients with paroxysmally progressive schizophrenia in a psychotraumatic situation].

Affective disorders associated with a psycho-traumatizing situation have been studied in 82 patients with attack-type progressive schizophrenia undergoing inpatient forensic psychiatric examination at the All-Union Research Institute of General and Forensic Psychiatry. The results have shown that patients with attack-type progressive schizophrenia present in this situation affective disorders varying in depth and clinical characteristics which mask endogenic symptomatology and hinder forensic psychiatric assessment of these states in some cases. The following abnormalities have been defined as a result of the study: reactive conditions (psychogenic affective responses and reactive psychoses), psychogenic exacerbations of schizophrenia with such predominant clinical manifestations as affective disorders and attacks of schizophrenia taking the course of phase-affective conditions.

Adolescent↗
PubMed1985

Developmental considerations in the concept of affective illness.

A spectrum exists from change, to crisis, to turmoil, and, at times, to illness at watersheds in the life cycle. Affective experience can be a mobilizing factor and emotional catalyst in the growth experience or a devastating psychotic mood disturbance when predisposing life events and genetic disposition are operational. This paper reviews the dynamics of biologic systems, chronobiology, and time-related transitions of the developmental experience. The relationship of a developmental time clock to affective phenomenology and clinical affective disorder is discussed and presented in two case vignettes. Developmental theory and the interface between life events, stress, and affective illness are reviewed and a concept of development as a sequence of affective cycles is presented.

Adolescent↗
PubMed1983

The use of affective assessment to plan and evaluate instructional changes.

Affective assessment has been used extensively in dental education to gain valuable information from student attitudes; however, it has rarely been used as an instrument for systematically evaluating courses in order to plan instructional changes. In this investigation, affective assessment was used to plan and subsequently evaluate instructional changes in a restorative dentistry laboratory course. Affective assessment was used initially to determine attitudes concerning the laboratory course as well as the effect of an experimental program conducted during the course. Based on that assessment, changes were made in the course and the experimental program. Affective assessment was again employed the following year to determine the effect of the instructional and methodological changes. This study serves as a model for dental educators who would like to employ a systematic and practical approach to planning and evaluating instructional change through affective assessment.

Attitude↗
PubMed1995

Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes.

A total of 254 affected parent-child pairs with Huntington disease (HD) and 440 parent-child pairs with CAG size in the normal range were assessed to determine the nature and frequency of intergenerational CAG changes in the HD gene. Intergenerational CAG changes are extremely rare (3/440 [0.68%]) on normal chromosomes. In contrast, on HD chromosomes, changes in CAG size occur in approximately 70% of meioses on HD chromosomes, with expansions accounting for 73% of these changes. These intergenerational CAG changes make a significant but minor contribution to changes in age at onset (r2 = .19). The size of the CAG repeat influenced larger intergenerational expansions (> 7 CAG repeats), but the likelihood of smaller expansions or contractions was not influenced by CAG size. Large expansions (> 7 CAG repeats) occur almost exclusively through paternal transmission (0.96%; P < 10(-7)), while offspring of affected mothers are more likely to show no change (P = .01) or contractions in CAG size (P = .002). This study demonstrates that sex of the transmitting parent is the major determinant for CAG intergenerational changes in the HD gene. Similar paternal sex effects are seen in the evolution of new mutations for HD from intermediate alleles and for large expansions on affected chromosomes. Affected mothers almost never transmit a significantly expanded CAG repeat, despite the fact that many have similar large-sized alleles, compared with affected fathers. The sex-dependent effects of major expansion and contractions of the CAG repeat in the HD gene implicate different effects of gametogenesis, in males versus females, on intergenerational CAG repeat stability.

Adolescent↗
PubMed1993

[Modification of affective behavior in the post-acute course of schizophrenia].

The results of the Expressed Emotion Research (Vaughn, Leff 1976) suggest that family factors, especially emotional tension and strain on the part of closely related persons, play a decisive role as to whether or not a relapse sets in. From a psychopathological point of view, the important question for the individual consultation and therapy guidance, however, remains unanswered; which patients, who are under relative severe stress, do not and which patients do after all, even under minor stress, decompensate? Even when one turns to a neurophysiological or cognitive vulnerability paradigm (Zubin, Spring 1977), the so raised questions cannot be answered in a satisfactory way. For this reason, the approach presented here is aimed at the mediating level of meaning and sense of events. This means that the different effects of the same kind of stress and therapeutic interventions with different patients, depend on a varied situational meaning of e.g. one and the same event. Therefore, the addressed topic of emotional atmosphere and, associated with this, affective and emotional activation of psychological representations is conceptualized by the new construct of affectionality. On one hand the active orientation of the person towards the world, in the sense of intentionality, is formed by a psychological dynamic directed towards certain objectives of meaning. On the other hand, intentionality corresponds with the person's feeling of being concerned by the world, in the sense which we call affectionality. The modification of the affectionality during the course of illness of postacute schizophrenics is shown here on the basis of empirical findings from follow-up examinations by way of the Rorschach Procedure. Finally, the results are discussed under the unifying aspect of affectionality, which again directs our focus to the original meaning of vulnerability as being a personal, but nevertheless in parts an empirically conceivable category.

Adaptation, Psychological↗
PubMed1995

Body dysmorphic disorder: an obsessive-compulsive spectrum disorder, a form of affective spectrum disorder, or both?

Over the past century, body dysmorphic disorder (BDD), a preoccupation with an imagined or slight defect in appearance, has been hypothesized to be related to obsessive-compulsive disorder (OCD). More recently, BDD has also been hypothesized to be a form of affective spectrum disorder. Affective spectrum disorder refers to a family of disorders postulated to have a common pathophysiologic abnormality. This grouping of disorders has been identified on the basis of their response to pharmacologic treatments and is supported by comorbidity and family studies. Available data suggest that BDD should be considered a candidate form of affective spectrum disorder--a disorder that may eventually be demonstrated to belong to this family of disorders. Available data also strongly support the hypothesis that BDD is an obsessive-compulsive spectrum disorder. Because OCD itself has been hypothesized to be an affective spectrum disorder, BDD may be more narrowly conceptualized as an obsessive-compulsive spectrum disorder and more broadly as a candidate form of affective spectrum disorder.

Adolescent↗
PubMed1995

Costs and benefits of hospital and day treatment with community care of affective and schizophrenic disorders.

BACKGROUND: A randomised controlled trial of day treatment with community care for patients with schizophrenic and affective disorders, referred for in-patient psychiatric treatment, was conducted to evaluate patterns of treatment and the course of illness with its psychosocial consequences over a period of two years. METHOD: Seventy patients, of whom 34 had affective and 36 had schizophrenic disorder, were assigned to the experimental condition (day treatment with ambulatory and domiciliary care), and 33 patients, of whom 16 had affective and 17 had schizophrenic disorder, were assigned to the control condition of standard clinical care. RESULTS: Day treatment with community care was feasible for 40.6% of the affective patients and 33.3% of the schizophrenic patients. The direct treatment costs of both disorders, based on numbers of in- and day-patient days and out-patient contacts over two years, appeared more or less the same. Patients benefited equally from day treatment as from in-patient treatment, although there were some gains in self-care and in functioning in the household among experimentals. Although schizophrenics were socioeconomically worse off, and also suffered from more (severe) symptoms and social disabilities than the affective patients at entry into the study, they were similar at two years. This finding is unexpected, compared with other follow-up studies. Extra cost for patients and families were not observed. Patients and their families in the experimental condition were significantly more satisfied with the treatment. Experimental patients spent much more time at home during admission, remained much less time in secluded wards, and were more compliant with treatment. CONCLUSIONS: Day treatment could be considered a cost-effective alternative to in-patient treatment.

Activities of Daily Living↗
PubMed1994

Subgingival bacteria in a case of prepubertal periodontitis, before and one year after extractions of the affected primary teeth.

The treatment of children with prepubertal periodontitis (PP), may be complicated by the extent of the lesions and the possibility of tetracycline stain of the developing permanent dentition. Therefore, with the purpose of preventing the infection of permanent teeth during the mixed dentition, it has been recommended that the treatment of children with PP, should include the early extraction of the primary teeth affected with alveolar bone loss (ABL). Still, there is little evidence which confirms that extraction of the affected primary teeth do in fact reduce the periodonto-pathogens load of the subgingival plaque. The present study reports values of colony forming units (CFU) of total anaerobic bacteria, Actinobacillus actynomicetemcomitans (Aa) and Porphyromonas gingivalis (Pg) from the subgingival plaque from a child with PP, collected immediately before and 1 year after extractions of the primary teeth affected with ABL. CFU of Aa and Pg developed only from the subgingival plaque collected before the extraction of the primary teeth affected with ABL. These findings suggest that in cases of PP, extraction of the affected primary teeth may reduce the possibility of infection of the periodontum of the permanent teeth during the mixed dentition period.

Aggregatibacter actinomycetemcomitans↗
PubMed1994

[Connotative affective perception of self concept and its link with school performance].

The association between the two major Eysenckian Personality dimensions, and the affective-connotative evaluation of self-concept as a reflection of academic success/failure are analyzed among a 111-schoolchild sample. Findings show the main effect of academic performance and personality on children's affective perception of their self-concepts: Schoolchildren with a good performance enjoy a better self-appraisal, and their affective connotations are more positive than their peers' with a poorer performance. On the other hand, association between affect intensity and Neuroticism predisposition is not so clear. A relationship between neuroticism and negative affect predisposition is observed only when associated to introversion and poor performance.

Achievement↗
PubMed1994

Myotonic dystrophy gene analysis in affected Israeli families.

Myotonic dystrophy (DM) is an autosomal dominant disease with an estimated incidence of 1:7,500 individuals. The clinical manifestations are variable and include muscle wasting and weakness, myotonia, intellectual impairment, cardiac abnormalities, cataracts, and testicular atrophy. Despite its phenotypic variability, the disease is genetically homogeneous, and a specific molecular defect has been located to chromosome 19q13.3 and found to be associated with the expansion and instability of trinucleotide (CTG) repeats. Whereas normal individuals have 5-36 CTG repeats, affected individuals have 50 to several thousands. Therefore, DM can now be diagnosed accurately using molecular biology techniques that allow detailed analysis and determination of the size of DNA in the unstable DM gene region. In this way even mildly affected patients can be identified. We used this method to study the DM gene in 11 affected Israeli families (39 individuals). In most of the families, the unstable DNA sequence increased in size when transmitted to offspring. In one of the families we found contraction of the CTG repeat in a DM offspring of an affected male; and in another family a CTG repeat contraction occurred in three offspring of an affected female while in the fourth offspring there was CTG expansion. Southern blot analysis using BglI restriction provided the most accurate technical results. There was an obvious phenotype/genotype correlation between the size of the CTG repeat and severity of disease.

Adolescent↗
PubMed1995

A comparative microbiological study of clinically healthy eyes and those affected by ophthalmia in cattle and the association of noctuid eye-frequenting moths.

The eyes of clinically healthy Simmentaler cattle and those affected by ophthalmia were sampled once a month over a continuous period of 12 months for bacterial, mycoplasmal and ureaplasmal infections. In total 478 eyes, representing from a clinical viewpoint 414 healthy and 64 affected eyes, were swabbed. Bacteria were isolated from 201 (48.6%) healthy eyes and 56 (87.5%) affected eyes. No bacteria were isolated from the remaining eyes. Eleven genera of bacteria were isolated from healthy eyes and 8 genera from affected eyes. The majority of isolates were classified in the genera Moraxella, Neisseria and Staphylococcus. Mycoplasmas were isolated from 247 (50.7%) healthy eyes and 27 (42.2%) affected eyes. No mycoplasmas were isolated from the remaining eyes. Ureaplasmas were not isolated from any animal. Eye-frequenting moths were collected on 3 occasions during the investigation and bacterial and mycoplasmal isolation techniques were performed on a total of 21 moths. Twelve different genera of bacteria, mostly Nocardia, Corynebacterium, Staphylococcus, Moraxella, and mycoplasmas were isolated from various eye-frequenting moths. Scanning electron microscopical studies of the proboscis of the moths showed it to contain various sensillae and short triangular denticles that could possibly cause damage to the mucous membranes of the eyes and predispose to ophthalmia in cattle.

Animals↗
PubMed1996

Depressive affect and survival among gay and bisexual men infected with HIV.

BACKGROUND: Although depression has been related to chronic disease processes and outcomes, studies examining the relationship between depression and disease progression in persons with human immunodeficiency virus (HIV) infection have produced inconsistent results. OBJECTIVE: To investigate whether depressive affect is associated with HIV mortality. METHODS: This was a prospective cohort study (San Francisco Men's Health Study) using a population based probability sample of single men living in areas of San Francisco, Calif, with high case rates of acquired immunodeficiency syndrome. Data collection was at 6-month intervals with up to 15 waves of follow-up. Subjects included all 402 homosexual or bisexual men who in July 1984 had serologic evidence of HIV infection and who survived a minimum of 1 wave after baseline. Depressive affect was measured at each wave with the affective subscale of the Center for Epidemiologic Studies-Depression Scale. Laboratory markers, World Health Organization staging, antiretroviral use, and hospitalizations were also used as predictor variables. The primary outcome measure was survival. RESULTS: In a Cox proportional hazards model, a time-dependent measure of depressive affect was associated with greater mortality (adjusted risk ratio, 1.67; 95% confidence interval, 1.01-2.78). CONCLUSIONS: Depressive affect was associated with mortality risk, highlighting the importance of diagnosis and treatment of depression among HIV-infected gay and bisexual men. Replication of this effect in incident cohorts with well-characterized dates of HIV infection is needed and, if replicated, an exploration of mediating pathways suggested.

Adult↗
PubMed1996

A follow-up report of a genome search for affective disorder predisposition loci in the Old Order Amish.

Progress of a full-genome scan for predisposition loci for affective disorder in the Old Order Amish is reported. LOD-score results have been previously published for 51 loci on chromosomes 1 and 11, collectively. The present report contains results for an additional 367 loci throughout the genome with extensive coverage on chromosomes 1, 2, 3, 4, 6, 7, 9, 10, 13, 14, 18, 19, and 21 (average marker density for these chromosomes = 10.7 cM). Analyses were conducted in a four-stage process: (1) two-point LOD scores were calculated for all loci under a dominant model with reduced penetrance, consistent with results of segregation analyses of these pedigrees; (2) a screen for the sharing of alleles in similarly affected individuals was used to highlight areas potentially important for further analysis; (3) the preceding areas and markers on densely covered chromosomes were analyzed using the affected-pedigree-member (APM) method; and (4) the sharing of extended haplotypes in affected individuals was examined in areas showing apparent clustering of significant allele sharing as assessed by the APM method. Of the 367 markers analyzed, no statistically significant LOD scores resulted. Some degree (P < .05) of allele sharing was found at 74 loci, and 3.8% of all markers analyzed (N = 14) passed more stringent significance criteria suggestive of linkage (P < or = .001 for at least one of the weighting functions). Multilocus APM and detailed exploration of extended haplotype sharing in areas highlighted by the APM analyses provided methods for more informative exploration of potentially suggestive results but did not identify areas clearly involved in the etiology of affective disorder in this population.

Bipolar Disorder↗
PubMed1996

The social biofeedback theory of parental affect-mirroring: the development of emotional self-awareness and self-control in infancy.

The authors present a new theory of parental affect-mirroring and its role in the development of emotional self-awareness and control in infancy. It is proposed that infants first become sensitised to their categorical emotion-states through a natural social biofeedback process provided by the parent's 'marked' reflections of the baby's emotion displays during affect-regulative interactions. They argue that this sensitisation process is mediated (similarly to that of adult biofeedback training) by the mechanism of contingency-detection and maximising. Apart from sensitisation, affect-mirroring serves three further developmental functions: (1) it contributes to the infant's state-regulation; (2) it leads to the establishment of secondary representations that become associated with the infant's primary procedural affect-states providing the cognitive means for accessing and attributing emotions to the self; (3) it results in the development of a generalised communicative code of "marked' expressions characterised by the representational functions of referential decoupling, anchoring and suspension of realistic consequences. They consider the clinical implications of our theory, relating it to current psychodynamic approaches to the functions of parental affect-mirroring. Using their model they identify various types of deviant mirroring styles and speculate about their developmental consequences. Finally, they discuss what role their social biofeedback model may play as a mediating mechanism in the therapeutic process.

Adult↗
PubMed1996

The human serotonin 7 (5-HT7) receptor gene: genomic organization and systematic mutation screening in schizophrenia and bipolar affective disorder.

In the present study, we evaluated the possible contribution of genetic variation of the serotonin 5-HT7 receptor to the development of schizophrenia and bipolar affective disorder. Cloning and characterization of exon-flanking intronic sequences enabled us to investigate the whole coding region and the exon-intron boundaries of the human 5-HT7 receptor gene. Using single-strand conformational analysis, we screened for presence of DNA sequence variation in a sample of 137 unrelated individuals including 45 schizophrenic and 46 bipolar affective patients, as well as 46 healthy controls. We detected two rare naturally occurring receptor variants (Pro-279-Leu, Thr-92-Lys) and a silent nucleotide substitution (A-->G) at position +1233. The occurrence of the Pro-279-Leu and Thr-92-Lys substitutions was studied in an extended sample of patients (n = 462) and controls (n = 335). The Leu-279 variant was found in similar frequency in all groups, indicating that presence of this variant is not causally related to the development of schizophrenia or bipolar affective disorder. The Lys-92 variant was found in a single individual who suffered from bipolar affective disorder. Investigation of the patient's family revealed independent segregation between the Lys-92 variant and psychiatric illness. Our data suggests that genetic variation of the 5-HT7 receptor does not play a major role in the development of bipolar affective disorder and schizophrenia.

Bipolar Disorder↗