PubMed Health⌕ Search

Biomedical subjects

L Georgieva

Publications and source records attributed to L Georgieva.

10 recordsLinked to original sources
PubMed2007

IGF1, growth pathway polymorphisms and schizophrenia: a pooling study.

It has been hypothesized that insulin-like growth factors (IGFs) and components of the growth-hormone (GH)-IGF axis may underlie reported associations of poor fetal and childhood growth with schizophrenia. We have investigated the association of schizophrenia with 16 SNPs spanning the IGF1 gene with an inter-marker distance of approximately 2-3 kb. We also examined associations with four common functional polymorphisms of genes involved in aspects of the GH-IGF system--the IGF1 receptor (IGF1R), insulin receptor substrate (IRS1), growth hormone (GH1), and IGF binding protein-3 (IGFBP3). The study was based on an analysis of pooled DNA samples from 648 UK and Irish cases of schizophrenia and 712 blood donor controls and of 297 Bulgarian parent offspring trios. In replicated pool analyses, none of the 16 SNPs in IGF1 nor the 4 key SNPs in the other growth pathway genes were associated with schizophrenia. SNP coverage of IGF1 was extensive, so our findings do not support a major role for IGF-I in the aetiology of schizophrenia.

Bulgaria↗
PubMed2002

Dopamine transporter gene (DAT1) VNTR polymorphism in major psychiatric disorders: family-based association study in the Bulgarian population.

OBJECTIVE: A 40-bp variable number tandem repeat in the 3'-UTR of dopamine transporter gene (DAT1) has been examined for association with major psychiatric disorders in several case-control studies. No significant results have been found. We used a new collection of parent-offspring trios to test for association with schizophrenia (SZ), bipolar 1 disorder (BPI) and schizoaffective (SA) disorder. METHOD: We genotyped trios from Bulgarian origin where the proband had SZ (178 trios), BPI (77 trios) and SA (29 trios). Alleles ranging from 5 to 11 repeats were observed. The results were analysed with the extended TDT (ETDT). RESULTS: No preferential transmission of alleles was observed for any diagnostic group. The presence of allele DAT*10 was associated with the severity and frequency of auditory hallucinations, however, this result is not significant if corrected for multiple testing. CONCLUSION: Our results are in agreement with previous reports of a lack of association between this polymorphism and major psychiatric disorders.

Adult↗
PubMed2002

Screening the human protocadherin 8 (PCDH8) gene in schizophrenia.

Abnormalities in synaptic connectivity and plasticity have been implicated in the pathophysiology of schizophrenia. Molecules involved in the development and maintenance of neural circuitry include the recently cloned protocadherins. Human protocadherin 8 (PCDH8) is homologous to 'arcadlin', a molecule shown to play a role in hippocampal synaptic function in the rat. The gene encoding PCDH8 maps to a region on chromosome 13 where linkage to schizophrenia has been reported. In this study, the entire expressed sequence of the PCDH8 gene and over 800 bp of the 5' flanking region were screened for polymorphisms in 30 DSM-IV schizophrenia individuals using Denaturing High Performance Liquid Chromatography (DHPLC). A total of nine single nucleotide polymorphisms were identified, including three in the first exon that are predicted to change the amino acid sequence. One polymorphism, causing the Trp7Arg change in the putative signal peptide, showed a trend towards excess of the arginine encoding allele in a case-control sample consisting of 520 DSM-IV schizophrenia patients and 535 matched controls from the UK (chi2=3.72, P [1 df]= 0.054). However, this polymorphism did not show preferential transmission to schizophrenic individuals in a separate sample of 203 proband-parent trios from Bulgaria. A second, rare single nucleotide variation, predicting the non-conservative amino acid change Glu39Ala, was found in one schizophrenic individual and their affected sibling but not in a further 352 affected individuals, nor 357 controls. These results suggest that any contribution of PCDH8 polymorphisms to schizophrenia susceptibility is likely to be weak, although the existence of rare variations of stronger effect cannot be excluded.

Adult↗
PubMed2002

Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach.

We examined whether variation within six genes from the VCFS critical region at 22q11 (DGSC, Stk22A1, DGSI, Gscl, Slc25A1 and Znf74) confers susceptibility to schizophrenia. We screened the exons and flanking intronic sequence of each gene for mutations in 14 individuals with DSM-IV schizophrenia using DHPLC. All polymorphisms identified were characterised and genotyped in a sample of 184 schizophrenics and matched controls, using novel DNA pooling methods. Of the polymorphisms identified, 17 were located within exons, six were within coding sequence, and two were non-synonymous. Pooled genotyping revealed no differences in the allele frequencies for any polymorphism between cases and controls that met our pre-defined criterion (P < or = 0.1). In a complementary approach we also attempted to define the location of a schizophrenia susceptibility locus more precisely by performing association mapping using seven microsatellites spanning the VCFS region with an average inter-marker distance of 450 kb. Conventional chi(2) analysis of genotypes in 368 cases and 368 controls revealed that none of the markers was significantly associated (P < 0.05) with schizophrenia. However, evidence for significant association (P = 0.003) was obtained for D22S944 when alleles were combined. TDT analysis of D22S944 genotyped in a further 278 cases of schizophrenia and their parents failed to find any overall allele-wise significant transmission disequilibrium (chi(2) = 18.3, P = 0.17). However, individual analysis of the alleles revealed that allele 12 was excessively non-transmitted and that this almost reached significance when corrected for multiple alleles (chi(2) = 7.35, P = 0.006, P = 0.078 corrected for 13 alleles).

Chromosome Deletion↗
PubMed1988

[Bronchial asthma and pulmonogenic arterial hypertension].

The arterial hypertensive syndrome was studied in 216 patients with bronchial asthma, 17 to 67 years of age (mean age 43.6 years), duration of the disease form 1 up to 19 years. To all patients bicycle ergometry with a permanent load of 60 W for 5 min. was applied. The results showed that in 145 patients (67.12%) arterial hypertensive syndrome was present during the bronchopulmonary obstruction. In 105 of these patients (48.6%) the hypertension was pulmonogenic and in 40 patients (18.51%) the arterial hypertension was an accompanying disease. In 62 patients (28.70%) the pulmonogenic hypertension was of a labile type and in 43 patients (19.90%) it was stable. A marked correlation was found between the values of the increased arterial pressure and the indices of bronchopulmonary obstruction--forced expiratory volume/min, Tiffneau's index, maximal expiratory flow, mean maximal expiratory flow. Hypotensive treatment is recommended in patients with stable pulmonogenic hypertension and with accompanying arterial hypertension only.

Adolescent↗
PubMed1987

[Risk factors and the prevention of status asthmaticus in bronchial asthma patients].

For a 10 year period 1005 patients with bronchial asthma were treated. 203 (20.19%) of these patients, from 17 up to 71 years of age (mean age 44.2 years) and duration of the disease from 2 up to 28 years, had been in asthmatic state. For this 10 year period 72 (35.46%) of these 203 patients had been in asthmatic state from 2 to 7 times with an interval of 1.5 to 3.5 years. The asthmatic state is a frequent and severe complication of bronchial asthma sometimes with lethal outcome. As risk factors for the development of asthmatic state in asthmatic patients can be pointed out the insufficient treatment of the asthmatic attacks before admittance to the hospital, ill founded corticosteroid treatment and late search for medical help. The antibiotic therapy in patients with an asthmatic attack due to pulmonary infection influences favourably the bronchial obstructive syndrome and is the best prophylaxis of asthmatic state parallel with founded corticosteroid treatment, well organized prophylactic medical care and improvement of the medical knowledge of asthmatic patients.

Adolescent↗
PubMed1987

[Inhalation treatment with low doses of heparin in bronchial asthma patients].

The efficacy of the inhalation treatment of bronchial asthma with low heparin doses was studied in 107 patients 18 to 65 years of age (mean age 43.9 years), men 46 (46.99%), women 61 (57.09%), duration of the disease from 1 up to 18 years. 29 patients (27.10%) had atopic bronchial asthma, 78 patients (72.90%) had mixed and infectious-allergic bronchial asthma. In all patients the disease was in a state of aggravation with various degree of bronchial obstruction. The results of the study show that heparin applied by inhalation in low doses of 5000 U in the course of 10-12 days is highly effective. Positive effect was found in 101 patients (94.39%) and in 84 of them (78.50%) it was considered as very good. Marked good effect was registered in patients who received corticosteroids simultaneously and their doses could be reduced or their application discontinued. It is suggested that the good results of the heparin inhalation treatment were to some extend due to the environmental conditions of the region of Sandanski, South West Bulgaria, where the study was carried out. The resort zone Sandanski is well known for its bioclimatic conditions which are favourable for the treatment of non-specific respiratory infections.

Administration, Inhalation↗