The effect of short-range spatial variability on soil sampling uncertainty.

This paper aims to quantify the soil sampling uncertainty arising from the short-range spatial variability of elemental concentrations in the topsoils of agricultural, semi-natural, and contaminated environments. For the agricultural site, the relative standard sampling uncertainty ranges between 1% and 5.5%. For the semi-natural area, the sampling uncertainties are 2-4 times larger than in the agricultural area. The contaminated site exhibited significant short-range spatial variability in elemental composition, which resulted in sampling uncertainties of 20-30%.     

Association of Tagging Single Nucleotide Polymorphisms on 8 Candidate Genes in Dopaminergic Pathway with Schizophrenia in Croatian Population

Aim

To perform a comprehensive evaluation of association of common genetic variants in candidate genes in the dopaminergic pathway with schizophrenia in a sample from Croatian population.

Methods

A case-control association study was performed on 104 unrelated patients with schizophrenia recruited from a psychiatric hospital in Zagreb and 131 phenotypically normal Croatian subjects. Forty-nine tagging single nucleotide polymorphisms (tagSNPs) in 8 candidate genes in the dopaminergic pathway were identified from the HapMap database and tested for association. Genotyping was performed using the SNPlex platform. Statistical analysis was conducted to assess allelic and genotypic associations between cases and controls using a goodness of fit χ² test and trend test, respectively; adjustment for multiple testing was done by permutation based analysis.

Results

Significant allele frequency differences between schizophrenia cases and controls were observed at 4 tagSNPs located in the genes DRD5, HTR1B1, DBH, and TH1 (P < 0.005). A trend test also confirmed the genotypic association (P < 0.001) of these 4 tagSNPs. Additionally, moderate association (P < 0.05) was observed with 8 tagSNPs on SLC6A3, DBH, DRD4, SLC6A4, and COMT.

Conclusions

Common genetic variants in genes involved in the dopaminergic pathway are associated with schizophrenia in the populations of Caucasian descent.Schizophrenia is a chronic, severe, and disabling brain disease affecting about 1% of the global population (1). There is substantial evidence that genetic factors are involved in the etiology of the disease (2). High heritability (~ 80%) and higher concordance in monozygotic (~ 50%) than in dizygotic (~ 17%) twins are strong indicators for an inherited basis of schizophrenia (3-5). During the past decade, numerous loci and plausible candidate genes have been identified by linkage and association studies. However, the findings have remained inconclusive (2,6). Like other complex diseases, a complex genetic etiology compounded by involvement of other non-genetic factors has hindered the precise identification of schizophrenia gene variants. Second, a major limitation in most association studies has been testing of a few variants within a gene of interest rather than a thorough assessment of the entire gene region. With the availability of the sequence of the genome and large body of data on human genetic variation from the HapMap project (7), it is now possible to undertake more comprehensive association studies.Genes involved in the dopamine pathway are biologically plausible candidates in schizophrenia susceptibility. In this study, we report on the association of single nucleotide polymorphisms (SNPs) in 8 dopaminergic genes (DRD4, DRD5, SLC6A3, SLC6A4, HTR1B, DBH, TH, and COMT) with schizophrenia in a Caucasian sample from Croatia. We performed a comprehensive association study using tagging SNPs (tagSNPs). Overall, 49 tagSNPs were identified from the HapMap database (7), 4 of which showed strong evidence of association with schizophrenia susceptibility.     

Inoperable esophageal cancer and outcome of palliative care

AIM： To determine the outcome of esophageal cancer patients referred for palliative care, in Gorgan and Gonbad gastrointestinal clinics, northeast of Iran.
METHODS： This cross-sectional study was done on inoperable esophageal cancer cases referred to gastrointestinal clinics in Gorgan and Gonbad city （2005-2006）. Demographic data were collected during the procedure and cases were followed up every one month. Improvement proportion was calculated with 95% confidence interval, to determine the rate of improvement. Survival analysis and Kaplan- Meier methods were used to estimate the duration of palliative care effectiveness.
RESULTS： We recruited 39 cases into the study. Squamous cell carcinoma was the most prevalent （92.3%）. The middle third of the esophagus was involved predominantly （51.3%）. Dilation was the most preferred method （89.7%） and stenting was done in 4 cases. Decreasing dysphagia score was not related to palliation method or pathology type of carcinoma. Age of the patients was significantly related to the improvement of dysphagia score. Mean survival time was 137.6 d and median was 103 d.
CONCLUSION： Results of this study showed a low survival rate after palliative care in esophageal cancer cases despite dysphagia scores＇ improvement after dilating or stenting.     

Thromboembolic manifestations and congenital factor V deficiency: a family study

A case of congenital factor V deficiency is reported. Despite this defect in blood coagulation, the patient had experienced recurrent thrombophlebitis and was referred to us because of deep venous thrombosis of the lower limbs associated with pulmonary embolism. Both functional and immunological assays documented a deficiency of factor V (12 and less than 10%, respectively). The available family members were investigated and the same defect was found in 2 brothers of the propositus, who also suffered from thrombotic diseases (recurrent thrombophlebitis and myocardial infarction). The propositus has been treated with long-term oral anticoagulant therapy, no hemorrhagic complications or thrombotic recurrences being recorded in 2 years' time.     

The risk of lower mental outcome in infantile spasms increases after three weeks of hypsarrhythmia duration

To assess the correlation between hypsarrhythmia duration and mental outcome in infantile spasms (IS) the medical records of 48 infants with IS were reviewed retrospectively and psychological assessments undertaken at follow-up at the age of 3 to 13 years. We found 18 (38%) cryptogenic IS cases with typical hypsarrhythmia and 30 symptomatic with modified hypsarrhythmia-further classified into 15 cases as multifocal, 10 as pseudoperiodic and 5 as unilateral hypsarrhythmia. A short treatment lag (one to two weeks) occurred in 25, three to four weeks in 10 cases. Spasms ceased within one month after treatment in 23 infants. At follow-up 15 children had normal mental outcome (borderline included). A correlation between hypsarrhythmia duration longer than three weeks and lower mental outcome was found using the logistic regression model. The duration of hypsarrhythmia represents a sensitive prognostic parameter in IS; the risk of mental retardation increases after three weeks of hypsarrhythmia.     

Head growth in infants with infantile spasms may be temporarily reduced

Epileptic activity, as a component of epileptic encephalopathies, can interfere with brain growth and development. Infantile spasms as a syndrome represent such epileptic activity during the period of spasms and hypsarrhythmia. The rate of head growth in infants with infantile spasms during the period of spasms has not been studied previously. A retrospective study of head growth in 38 infants with infantile spasms and no other cause of abnormal head growth is presented. Mental outcome was assessed at follow-up. The mean head circumference of infants with infantile spasms was not significantly smaller than in the normal population, but the proportion of head circumference below the tenth percentile in the infantile spasms group was higher (27%). Head circumference below the tenth percentile in the fourth and fifth month after the onset of infantile spasms was significantly associated with later mental retardation (P = 0.004). There was no correlation with specific treatment of infantile spasms. Transiently diminished head growth in infants with infantile spasms coincides temporally with the onset of infantile spasms and "catches up" during remission of infantile spasms in favorable cases. This pattern can reflect the negative influence of epileptic activity on brain growth during the sensitive period. Head circumference can provide a reliable predictive value of mental outcome in children with infantile spasms.