Associative processes disorders in schizophrenia

This paper tries to approach and systematize knowledge about the character of associative process disorders in schizophrenia. In considering schizophrenia as an illness composed of various symptoms which may lead to different clinical progress, the paper is mainly focused on disorganization of thinking and, consequently, speaking and communication disorders. Authors reviewed various concept of pathogenesis and course of associative process disorders in schizophrenic patients. Special attention was paid to a connectionist model of disturbed associations. This model originates from cognitive psychology and assumes that concepts are represented as networks in the mental lexicon. Following from this model, a hypothesis was presented, claiming that disturbed associations in schizophrenia may be related to abnormalities in semantic networks. Results of research, supporting this hypothesis, were referred. Moreover, authors tried to describe the relationship between associative processes disorders in schizophrenia and abnormalities in neurophysiological (event--related potentials) and neuropathological (MRI) examinations. At least hypotheses describing the role of neurotransmission disorders was presented.     

Time trends and familial risks in squamous cell carcinoma of the skin

OBJECTIVES: To study time trends and familial clustering of invasive and in situ squamous cell skin cancers (SCC), with particular reference to sun-exposed and covered sites of the body. DESIGN: Epidemiologic follow-up study of the whole population. SETTING: The Swedish Family-Cancer Database from the year 2000, to cover individuals born after 1931 with their biological parents, totaling 10.2 million persons. PATIENTS: Cancer data were obtained from the Swedish Cancer Registry from 1961 through 1998 and included 1907 invasive SCCs in offspring and 12,702 and 7167 in fathers and mothers, respectively. The numbers of patients affected by in situ SCC were 2666, 13,739, and 13,321, respectively. MAIN OUTCOME MEASURES: Standardized incidence ratios and 95% confidence intervals were calculated for SCC in offspring when parents had SCC. Incidence rates were calculated for the population in the Database. RESULTS: Incidence trends showed a large increase in reported cases of SCC and particularly of in situ SCC. Among invasive cases, the increase was largest among covered sites. A clear cohort effect was observed particularly for SCC on covered sites. Familial standardized incidence ratios for offspring combining invasive and in situ SCC were 2.25 (95% confidence interval, 1.93-2.59) for concordant exposed sites and 2.60 (95% confidence interval, 1.38-4.20) for concordant covered sites, suggesting no difference between the body parts within the present statistical power. CONCLUSIONS: The higher increase in incidence on covered sites and the strong cohort effect suggest a contribution by intentional tanning. The observed equal increase in the familial effect on exposed and covered sites suggests that familial risk increases proportionately to the background rate.     

Genetic implications of bilateral breast cancer: a population based cohort study

BACKGROUND: Women with breast cancer are at high risk of bilateral breast cancer. We aimed to assess the incidence of bilateral breast cancer in relation to age and time since diagnosis of first cancer. METHODS: We analysed a population-based cohort of 123757 women with a first primary breast cancer diagnosed in Sweden from 1970 to 2000 for frequency of bilateral breast cancers and deaths by means of record linkage. Second primary breast cancers were categorised as synchronous bilateral breast cancers if diagnosed within 3 months of the first primary cancer or as metachronous if diagnosed more than 3 months after diagnosis of first primary cancer. FINDINGS: We identified 6550 women who had developed bilateral breast cancer. Age-incidence patterns of synchronous and unilateral breast cancer were similar, although the absolute rates of synchronous bilateral cancer were 50-100 times lower than those of unilateral cancer. A woman aged 80 years or older is at least twice as likely to be diagnosed with synchronous bilateral breast cancer than is a woman younger than 40 years. In the first 20 years after diagnosis of primary breast cancer, incidence of metachronous bilateral cancer decreased from about 800 per 10(5) person-years to 400 per 10(5) person-years in patients diagnosed with primary breast cancer before the age of 45 years, whereas incidence remained at 500-600 per 10(5) person-years in those age 45 years or older at diagnosis. After 30 years' follow-up, cumulative risk of metachronous bilateral breast cancer was about 15% irrespective of age at first primary breast cancer. INTERPRETATION: The higher than expected risk of synchronous bilateral breast cancer could be explained by non-genetic factors. By contrast, incidence of metachronous bilateral cancer fits neither a model of highly penetrant genes nor aggregation of environmental risk factors.     

Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease)

Congenital erythropoietic porphyria (CEP; Günther disease; OMIM 263700) is a rare autosomal recessive disorder caused by a deficiency of uroporphyrinogen III synthase (UROS). The deficiency of this enzyme is associated with lifelong overproduction of series I porphyrins which circulate and are deposited in many tissues, causing light-sensitisation and severe damage to skin beginning in childhood. Blistering and scarring of exposed areas may lead to mutilating deformities. We describe two cases: a 4-year-old boy and his first cousin who were cured of CEP by matched unrelated donor bone marrow transplants. Both are alive and disease-free 3 and 2 years post-transplant, respectively. Cutaneous lesions improved dramatically. The correction of the enzyme deficiency was confirmed by measuring erythrocyte UROS activity and urinary porphyrin excretion. Chimerism was complete for both children. Both patients were homoallelic for a novel mutation of the UROS gene, the missense mutation A69T. Conclusion:Considering the severity of the disease, if HLA-matched sibling donor is not available, haematopoietic stem cell transplantation using a matched unrelated donor should be strongly considered for treating congenital erythropoietic porphyria since this is currently the only known curative therapy.     

Chronically implanted electrodes for repeated stimulation and recording of spinal cord potentials

We have recorded and characterized the spinal cord evoked potentials (SCEPs) from the epidural space in the halothane-anesthetized rats. A group of 11 adult Wistar male rats was chronically implanted with two pairs of epidural electrodes. SCEPs were repeatedly elicited by applying electrical stimuli via bipolar U-shaped electrodes to the dorsal aspect of the spinal cord at C3-4 or Th11-12 levels, respectively. Responses were registered with the other pair of implanted electrodes, thus allowing us to monitor the descending (stimulation cervical/recording thoracic) and ascending SCEPs (stimulation thoracic/recording cervical). We studied the time-dependent changes of several SCEP parameters, among them the latency and amplitude of two major negative waves N1 and N2. During 4-weeks' survival, all major components of recordings remained stable and only minor changes in some parameters of the SCEPs were detected. We concluded that this technique enables repeated quantitative analysis of the conductivity of the spinal cord white matter in the rat. Our results indicate that SCEPs could be used in long-term experiments for monitoring progressive changes (degeneration/regeneration) in long projection tracts, primarily those occupying the dorsolateral quadrants of the spinal cord. These include projections that are of interest in spinal cord injury studies, i.e. ascending primary afferents, and important descending pathways including corticospinal, rubrospinal, reticulospinal, raphespinal and vestibulospinal tracts.     

Familial risk of urological cancers: data for clinical counseling

Familial risks for cancer are important for clinical counseling and understanding cancer etiology. The nationwide Swedish Family-Cancer Database includes all Swedes born in 1932 and later (0 to 68-year-old offspring) with their parents, totaling over 10.2 million individuals. Urological cancer cases were retrieved from the Swedish Cancer Registry up to year 2000. Standardized incidence ratios (SIR) and 95% confidence limits (CI) were calculated for age-specific familial risk in offspring by an exact proband status. The familial risks for offspring cancer were increased at all urological sites from concordant cancer in the parent and in a sibling proband. The highest SIRs by parent were for testicular and prostate cancer (4.26 and 2.45). When a sibling was affected, even kidney cancer (4.74) showed a high SIR. For kidney cancers, and also for prostate and testicular cancers, the SIRs were higher among siblings than among offspring and parents, which may indicate the involvement of recessive effects. Family members of patients with prostate cancer or von Hippel Lindau disease can expect organized clinical counseling, but family members of patients with other urological cancers are probably not counseled. Guidelines for clinical counseling or action level should be developed for all urological cancers because of the established familial risks. Urological cancers also offer a challenge to molecular geneticists attempting to identify the susceptibility genes underlying the familial clustering.     

Individual sensitivity to the mutagenic agents in patients with larynx cancer

Patients with different cancers, induced mostly by numerous mutagenic factors, present increased genetic susceptibility to mutagenic agents known as "hidden chromosomal instability". This type of genetic instability can be detected in vitro after treating chromosomes with clastogenic substances, for example by using "bleomycine test". The purpouse of our study was to evaluate a hidden chromosome instability in patients with squamous cell carcinoma of larynx (SCCL) and to establish correlations between genetic results and both histological grade of the tumor and clinical progression of disease. Cytogenetic analysis of 126 of patients diagnosed with SCCL and 98 of controls was performed in vitro on peripheral blood lymphocytes. The analysis of sensitivity to bleomycine of larynx cancer patients in relation to histological grade of the tumor proved, that increased numbers of chromosome breaks as well as and percentage of aberrant metaphases are correlated with the tumor grading. Mean number of chromosome breaks per cell (b/c) in patients with larynx cancer was 1,01 (+/- 0.43), while in the control group was 0.74 (+/- 0.29) per cell (chi2 p < 0.001). Percentage of aberrant metaphases (% am) in patients with SCCL was 42.18 (+/- 11.61) and 36.05 (+/- 10.22) in the control (chi2 p < 0.001). The group of hypersensitive patients (b/c > 1) consisted of 51.5% percent of larynx cancer patients, while in the control, hypersensitivity occurred only in 20.4% of subjects (chi2 p < 0.001). Possible chromosome instability (0.8 < b/c < 1) was found 11.9% patients with SCCL and in 20.4% of controls (not statistically significant). Increased sensitivity to bleomycine in patients with SCCL in comparison to the control group was found. Most sensitive to bleomycine was the group of patients diagnosed with SCCL graded G2 (Scheffe's test p < 0.05)     

Survival of cervical cancer patients in selected regions of Poland in 1990-1996, in relation to some prognostic factors

To evaluate whether cervical cancer patients in selected regions of Poland show similar 5-year survival rates and if they are different from European average and, also, to evaluate the effect of selected prognostic factors. The analysis based on a cohort of 1386 cervical cancer cases identified by population-based Cancer Registries collecting data from Kieleckie and Opolskie voivodships and from the City of Warsaw in 1990-96. These data become complete by adding information from medical records. The 5-year relative survival rates were calculated using the life tables method, and, a multivariant regression analysis was applied for evaluation of prognostic factors. The regions differed significantly in stage distribution (p<0.001), however, they were similar in age groups and histological diagnosis. The age-standardized relative 5-year overall survival rate was 52.2%, and was among lowest rates in Europe. The rate in Kieleckie was 60.7%; in Opolskie--43.3%, and in Warsaw--51.9%. The rates for Stage I in those regions were comparable at over 80%, but were different for Stage II and higher stages. The multivariant analysis showed a significant risk increase related to stage advancement (p<0.0001) as well as to the place of living in Opolskie (p=0.02) and to the adenocarcinoma diagnosis (p=0.05). However, the analysis did not confirm the effect of age of diagnosis as a prognostic factor. The overall, age-standardised 5-year relative survival rates of cervical cancer patients are one of the lowest in Europe, though diversified in the regions. They are almost satisfactory and close to European average in Kieleckie where prevention was effective, but poor in the other regions. The low survivals overall are basically due to the unsatisfactory proportion of the early stage of disease. The uneven survivals of patients with Stage II and higher stages of cancer in the selected regions of Poland suggest different standards of treatment.     

Expected change of direction in Polish law regarding cosmetics

In connection with adaptation of Polish law to UE regulations, new Polish Act on cosmetics was published. There were also prepared regulations concerning: lists the substances forbidden to be used in cosmetics, permitted to be used in cosmetics only with restrictions, allowed colouring agents, preservatives and UV filters, rules of non-inclusion of one or more ingredients on the list used for the labelling, establishing National System for Informing about Cosmetics and methods of analysis necessary for checking the composition of cosmetic products. Publication in Official Journal of the European Union L. 66/26 Directive 2003/15/EC shows direction necessary changes in Polish Act on cosmetics.