Minor physical anomalies in affective disorders. A review of the literature

BackgroundThe increased frequency of MPAs may be external markers of abnormal brain development in affective disorders.MethodsA MEDLINE, psychInfo and Web of Science search was evaluated to collect all publications on the prevalence of minor physical anomalies in bipolar affective disorder and unipolar major depression.AimsAs reports on the prevalence of MPAs in affective disorders were controversial, were based on highly different number of patients and were evaluated by the use of scales with different sensitivities, we considered as important to review the current state of knowledge and to recommend directions to further research.Results14 publications on 12 studies were found after a careful literature search. 5 studies have dealt with the prevalence of MPAs in bipolar affective disorder, 3 have reported on examinations among patients with unipolar major depression, while 5 publications on 3 studies combined patients with bipolar affective disorder, schizoaffective disorder and unipolar major depression. 1 study was published on the prevalence of MPAs among mood disorders, without the differentiation of the data of patients with bipolar affective disorder and unipolar major depression.LimitationsFew studies with relatively small size were published, there is no data on the distinction between bipolar I and bipolar II disorders.ConclusionThe reviewed data suggest a higher probability of the role of an aberrant neurodevelopment in bipolar affective disorder and a smaller in unipolar major depression.     

Interactions of Serotoninergic,Cholinergic, and Tachykinin‐Containing Nerve Elements in the Rabbit Small Intestine

This report presents novel results on the effects of serotonin (5‐HT) on longitudinal muscle contractions in the rabbit ileum and the interactions of serotonin with some neuronal elements of the myenteric plexus. We showed previously that serotonin‐triggered contractions involved two mechanisms in the rabbit ileum: neuronal excitation (via 5‐HT₂ receptors in the neurons) and direct muscular stimulation (via 5‐HT₄ receptors in the muscle). Here, we focus on the neuronal 5‐HT₂ receptor pathway and report further pharmacological and immunocytochemical data clarifying the details of the mechanisms. We observed that antagonists for neurokinin (NK1 and NK2) receptors partially blocked the serotonin response, but NK3 receptor antagonists had no effect. Pretreatment by atropine (ATR) eliminated the NK1 receptor antagonist resistant contractions. In contrast, the NK1 antagonist did not depress the ATR‐resistant contraction when ATR was added first. 5‐HT₂ receptor agonist‐induced contractions were partially suppressed by ATR, hexamethonium, and NK1 or NK2 receptor antagonists. In conclusion, serotonin acting through 5‐HT₂ receptors could stimulate interneurons and excitatory motor neurons. Immunocytochemical staining revealed an extensive tachykinin‐immunoreactive (IR) network in the myenteric plexus. Approximately 52% of all myenteric neurons were labeled. 5‐HT‐IR fibers could be detected around both choline acetyltransferase‐ and tachykinin‐IR cells, suggesting functional relationships between them. Consistent with our pharmacological observations, we found that immunopositive nerve elements for 5‐HT_2A receptor and double‐labeled immunostaining revealed a remarkable overlap between tachykinin‐IR neurons and 5‐HT_2A‐IR elements. Anat Rec, 2009. © 2009 Wiley‐Liss, Inc.     

Transmembrane G protein-coupled receptor 30 gene polymorphisms and uterine adenomyosis in Korean women

Abstract

To compare the genetic distributions of 14G protein-coupled receptor 30 (GPR30) single-nucleotide polymorphisms (SNPs) between women with and without uterine adenomyosis. The study population comprised 69 Korean women. Uterine tissues from the adenomyosis and non-adenomyosis groups were used for DNA extraction. Pre-designed PCR/Sanger or Sequencing Primer and TaqMan^® SNP Genotyping Assays were used for the SNP genotyping of the GPR30 gene. Immunohistochemical staining was performed to confirm the GPR30 expression. Differences in genotype and allele frequencies between the two groups were calculated using Fisher’s exact test. The rs3802141 CT genotype was more common in the control group (p?=?.02), and the rs4266553?CC genotype was more common in the adenomyosis group (p?=?.02). The C allele of the SNP rs4266553 was more common in the adenomyosis group (p?=?.02). GPR30 expression was confirmed in 69 individuals in both groups. GPR30 gene polymorphism is presumed to affect the risk of adenomyosis with limited sample size. Further large-scale study is needed to explain the genetic influence of GPR30 gene polymorphism.     

Dynamic changes in the trends in incidence of type 1 diabetes in children in Hungary (1978-98)

Abstract: Objective: To determine the recent trends in incidence, to analyze the age and geographic distribution, as well as the seasonal pattern of type 1 diabetes in Hungarian children aged 0–14 yr for the period from 1978 to 1998. Methods: Primary ascertainment of cases was by retrospective (1978–88) and by prospective (1989–98) registration using hospital notifications. The level of ascertainment was estimated by the capture–recapture method. The temporal trend was estimated by fitting Poisson regression models to the yearly incidence data. Roger's test was used to investigate possible seasonal variation in time of diagnosis. Heterogeneity between geographic areas was assessed by Poisson regression. Results: A total of 2616 patients (1214 in the first 11 yr, 1402 in the remaining 10 yr) were identified; the male:female ratio was 0.93. The overall standardized incidence rate was 7.87 (95% CI = 7.57–8.18) per 100 000 person‐yr, the lowest in the youngest (0–4 yr) and highest in the oldest (10–14 yr) age group. There was an increasing trend in incidence with a largest relative annual increase in the youngest age group. Seasonal and regional variations in incidence were also observed. Conclusion: Our 21‐yr study shows dynamic changes in incidence of childhood type 1 diabetes in Hungary, probably reflecting changes in the environment.     

Isolation and complete genome characterization of novel reassortant orthoreovirus from common vole (<Emphasis Type="Italic">Microtus arvalis</Emphasis>)

A novel mammalian orthoreovirus (MRV) strain was isolated from the lung tissue of a common vole (Microtus arvalis) with Tula hantavirus infection. Seven segments (L1–L3, M2–M3, S2, and S4) of the Hungarian MRV isolate MORV/47Ma/06 revealed a high similarity with an MRV strain detected in bank vole (Myodes glareolus) in Germany. The M1 and S3 segment of the Hungarian isolate showed the closest relationship with the sequence of a Slovenian human and a French murine isolate, respectively. The highest nucleotide and amino acid identity values were above 90 and 95% in all of the comparisons to the reference sequences in GenBank, except for the S1 with a maximum of 69.6% nucleotide and 75.4% amino acid identity. As wild rodents are among the main sources of zoonotic infections, the reservoir role of these animals and zoonotic potential of rodent origin MRVs need to be further investigated.     

Visual-perceptual dysfunctions are possible endophenotypes of schizophrenia: evidence from the psychophysical investigation of magnocellular and parvocellular pathways

Visual information processing is impaired in schizophrenia patients and their biological relatives. The authors measured vernier thresholds in 72 schizophrenia patients, their 86 siblings, and 60 healthy control subjects. Subjects were asked to detect the direction of the horizontal displacement of 2 stimuli (left or right). During magnocellular (M) pathway tests, stimuli were dots with low contrast (5%) or counterphase-modulated gratings (25 Hz). For parvocellular (P) pathway tests, isoluminant blue-red dots with yellow-green background were used. Results revealed that patients with schizophrenia and their siblings were more impaired in M pathway conditions than in P pathway conditions. There was no color-specific impairment. The patients and their siblings displayed lower performances on tests of executive functions, psychomotor speed, and verbal memory compared with the controls. Visual-perceptual and neuropsychological data did not correlate. In conclusion, M pathway dysfunction is a potential endophenotype of schizophrenia.     

Sandwich type ELISA and a fluorescent cytometric microbead assay for quantitative determination of hepatitis B virus X antigen level in human sera

The hepatitis B virus X protein (HBxAg) is responsible for severe complications of HBV infections including primary hepatocellular carcinoma. A sandwich type ELISA and a flow cytometric microbead assay for quantitative determination of serum levels of Hbx-Ag are introduced. We have previously developed monoclonal antibody families against well-conserved epitopes on HbxAg, characterized by different immunohistochemical and immunoserological techniques. Special selection of the antibody pairs provided highly sensitive and highly specific tools for quantitative immunoassay development. The resulting assays were tested on human sera (208 samples) collected from patients suffering from different clinical forms of HBV infection. The sensitivity range of the sandwich type ELISA was between 4 and 2000 ng/ml as measured on both the recombinant antigen and the sera of chronic hepatitis patients. A further flow cytometric microbead assay was established and tested in parallel with the ELISA. The quantitative results of these two immunoserological techniques were in strong correlation and they were found to be highly specific and sensitive on clinical samples. The HBxAg ELISA technique is applicable for routine clinical laboratory measurements, and our HBxAg microbead technique is recommended for complex multiparametric measurements combined with other markers.     

A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis.

Pure gonadal dysgenesis or Swyer syndrome is a sex-reversal disorder resulting from embryonic testicular regression sequences especially during the first few weeks of fetal life and is induced by mutations in the SRY gene. In the present report, we describe a nonmosaic XY sex-reversed female with pure gonadal dysgenesis. Molecular analysis using sequential PCR to detect Y chromosomal microdeletions showed the presence of SRY, ZFY and AZFa, b and c regions. Automated sequencing of the SRY region revealed a new mutation (deletion of A (adenine) in codon 82 at position +244), leading to a frame shift mutation within the helix I of the HMG-box domain. This mutation generates a truncated protein and is very likely to produce an impairment of SRY DNA binding activity. The present findings further support the functional importance of the putative DNA binding activity of the SRY HMG-box domain.     

Analysis of cytogenetic alterations in stage III serous ovarian adenocarcinoma reveals a heterogeneous group regarding survival, surgical outcome, and substage

Ovarian cancer is the leading cause of death among patients with gynecological cancers, but the biology of these tumors is still among the least understood of all major human malignancies. In this study, comparative genomic hybridization was used to determine chromosomal alterations in 98 stage III serous papillary adenocarcinomas. The tumors were grouped according to survival and the main prognostic factors stage and surgical outcome. There were chromosomal imbalances that were significantly more common in tumors from patients who died than in tumors from patients who survived: gains of 1q24-qter and losses of 4p, 4q31.1-qter, 5q12-q22, 8p, 16q, and X. Furthermore, we observed that gains of 8q23-8q24.2 and losses of 4p, 4q13-4q26, 4q31.1-qter, 5q12-q22, 8p, and 16q were significantly more common in tumors from patients with macroscopic residual tumor after primary surgery, compared to tumors from those who had undergone radical surgery. Gains of 3q13.3-qter, 6p, 7q21-q31, and 11q13-q23 and losses of 4q31.1-qter and 16q were more common in stage IIIc tumors than in stage IIIa+b tumors. On the basis of our results, we suggest that there are biological differences among the groups mentioned above and that absence of chromosomal aberrations in specific regions predicts a good clinical outcome for individual patients.