[Are risk factors in prenatal and perinatal period important for develompent of schizophrenia?] / Jsou rizikové faktory v prenatálním a perinatálním období dulezité pro vznik schizofrenie?

OBJECTIVE: Schizophrenia is an important psychical disease of multifactorial origin and not yet clear etiology. In prenatal and perinatal period some potential risk factors for schizophrenia are taken into consideration. DESIGN: Case-control study of 815 subjects, 407 cases and 408 controls was performed in 2013 to 2015. METHODS: In this study environmental and genetic risk factors were evaluated including potential risk factors of prenatal and perinatal period. RESULTS: Statistically important difference was found in child-birth done by cesarean section (p = 0.009) and in patients with schizophrenia were 15.7% complications in the course of childbirth (p < 0.001). Hypoxia, passed umbilical cord were the most frequent complications. In prenatal period premature childbirth, injury and psychical complications were the most frequent. On the other hand difference in weight and length of newborns, breast feeding and infection during pregnancy were found not statistically important. CONCLUSION: In this study statistically important diference were found in way of carrying childbirth and in some complications during pregnancy and delivery. Influence of infection during pregnancy and influence of weight and length of newborn were not demonstrated.

PAX9 gene mutations and tooth agenesis: A review.

Paired box 9 (PAX9) is one of the best-known transcription factors involved in the development of human dentition. Mutations in PAX9 gene could, therefore, seriously influence the number, position and morphology of the teeth in an affected individual. To date, over 50 mutations in the gene have been reported as associated with various types of dental agenesis (congenitally missing teeth) and other inherited dental defects or variations. The most common consequence of PAX9 gene mutation is the autosomal-dominant isolated (non-syndromic) oligodontia or hypodontia. In the present review, we are summarizing all known PAX9 mutations as well as their nature and precise loci in the DNA sequence of the gene. Where necessary, we have revised the loci of the mutations in line with the reference sequence of the PAX9 gene as it appears in the current DNA databases.

CD36 AA genotype is associated with decreased lipid taste perception in young obese, but not lean, children.

BACKGROUND/OBJECTIVE: Obesity is an alarming threat for all age groups, including children. Fat overconsumption is one of the factors that directly influences this pathology. Recent studies have suggested that a common variant in the CD36 gene, that is, single-nucleotide polymorphism (SNP) rs1761667-A allele, that reduces CD36 expression, associates with high oral fat detection thresholds in some obese subjects. The objective was to assess fatty acid sensitivity in relation to CD36 SNP in young lean and obese children. SUBJECTS/METHODS: We studied lingual detection thresholds for emulsions, containing oleic acid, in Algerian children (n=116, age=8±0.5 years) who were divided into two groups: obese (n=57; body mass index (BMI) z-score=2.513±0.490) and lean children (n=59; BMI z-score=-0.138±0.601) by alternative-forced choice method. To correlate the lipid taste perception thresholds with CD36 SNP, the children were genotyped for A/G SNP rs1761667 in 5'UTR region of CD36 by using PCR and restriction fragment length polymorphism. RESULTS: We noticed significantly higher CD36 A-allele frequency (P=0.036) in young obese children compared with leans. CD36 A-allele was associated with higher lipid taste perception thresholds than G-allele in obese children, but not in lean controls. Moreover, waist circumference was positively correlated with reduced fat taste sensitivity in these children. CONCLUSIONS: CD36 SNP A-allele, being present both in young lean and in obese children, is associated with high threshold for fatty acid taste sensitivity only in obese children.

[Applying the DNA diagnostics in patients with superficial keratitis of viral origin]. / Vyuzití DNA diagnostiky u pacientu s povrchovou keratitidou virového puvodu.

AIM: The authors evaluate the significance of the DNA diagnostics in patients with superficial keratitis of viral origin and their capability to be used for monitoring of the treatment effectiveness in the follow-up. The presence of herpes simplex virus 1 and 2, varicella zoster virus (HSV 1, HSV 2, VZV), and adenoviruses was assessed by means of the DNA analysis. MATERIAL AND METHODS: The group consisted of 54 patients (33 men and 21 women), mean age 45.6 +/- 9.5 years, who were treated at the Eye Department for superficial keratitis or keratouveitis of viral origin. A sample from the involved place was taken with a cotton swab and a sample of approx. 50 microL of tears was taken from the conjunctival sac with a single-use micropipette. The cotton swab and the tears were shaken with the EliDNA Store Kit (ELISABETH PHARMACON, Czech Republic) buffer, which prevents the DNA degradation and allows the storage and transport of samples at the room temperature. After the transportation in to the laboratory, the DNA was isolated by means of the UltraClean DNA Tissue Kit (MoBio, U.S.A.). The isolated DNA was used for HSV 1, HSV 2, VZV, and adenoviruses detection by means of PCR (polymerase chain reaction). All samples were screened for the HSV1 presence using the in-house RealTime method with TaqMan probe and the Applied Biosystems RealTime System 7300 device. In case of positive result of the DNA analysis, control samples were taken in 7 - 10 days periods until negative result was obtained; another sample was taken in case of suspected relapse. The control examination was also performed by means of cultivation from the same sample by another laboratory. RESULTS: Altogether 82 samples were taken and 230 DNA analyses were performed. The DNA diagnostics proved the presence of HSV 1 DNA in 28 patients, in one case, VZV DNA was detected, and 16 patients were positive on adenoviruses. The HSV 1 positive samples were confirmed by means of in-house RealTime PCR method as well as commercially available in vitro diagnostic healthcare device End-Point PCR HSV1/2 (Nanogen Advanced Diagnostics, Italy). All cultivation control examinations performed in another laboratory were negative. The samples were taken repeatedly in 9 patients to monitor the efficacy of the treatment. SUMMARY: The DNA diagnostics seem to be a fast and reliable method to determine the etiological agent in patients with superficial keratitis and allow very accurate monitoring of the treatment efficacy.

[The presence of dry eye syndrome and corneal complications in patients with rheumatoid arthritis and its association with -174 gene polymorphism for interleukin 6]. / Výskyt syndromu suchého oka a rohovkových komplikací u pacientu s revmatoidní artritidou a jeho souvislost s polymorfismem -174 genu pro interleukin 6.

The aim of this study was to evaluate the presence of the dry eye syndrome and corneal complications in patients with rheumatoid arthritis and to assess its association with the -174 gene polymorphism for interleukin 6. The group consisted of 123 patients treated for rheumatoid arthritis (20 men, 103 women); the mean age was 53 years (+/- 13.6). Every patient had completely ophthalmologic examination and special attention was paid to the amount of tears. The presence of corneal complications was detected in the medical history and evaluated during the slit lamp examination. In all patients the polymorphism-174 IL-6 examinations were performed. For the statistical data processing, the chi square (chi2) test for nominal variable was used. The dry eye syndrome (DES) was found in 98 eyes (79.7%), severe dry eye syndrome was detected in 53 patients (43.1%). Corneal complications appeared in 9 patients (7.3%). DES was present in 32 patients with the GG genotype (91.4%, n1 = 35), in 49 patients with the CG genotype (71.0%, n2 = 69), and in 8 patients with the CC genotype (42.1%, n3 = 19). After the statistical evaluation we have found the association between the dry eye syndrome and the GG genotype (chi2 = 8.9) and the association between less common dry eye syndrome appearance and the presence of the CC genotype (chi2 = 10.3). Severe dry eye syndrome we proved in 18 patients with GG genotype (51.4%, n1 = 35), in 31 patients with CG genotype (44.9%, n2 = 69), and in 4 patients with CC genotype CC (21.1%, n3 = 19). We proved statistically significant association between CC genotype and less often appearance of the severe dry eye syndrome (chi2 = 4.45). Corneal complications we noticed in one patient with GG genotype (2.8%, n1 = 35), in 5 patients with CG genotype (7.2%, n2 = 69), and in 3 patients with CC genotype (15.8%, n3 = 19). We did not prove statistically significant association between the 174 IL-6 polymorphism and corneal complications appearance. The 174 IL-6 polymorphism influences the appearance of the dry eye syndrome. In patients with GG genotype of the -174 gene polymorphism for IL-6 is its appearance more common. Patients with the rheumatoid arthritis and with CC genotype of the -174 gene IL-6 polymorphism have lower frequency of the dry eye syndrome presence.

The association study of DRD2, ACE and AGT gene polymorphisms and metamphetamine dependence.

We investigated the association between metamphetamine dependence and TaqI A polymorphism of the dopamine receptor D2 gene (DRD2), I/D polymorphism in angiotensin-converting enzyme (ACE) and M235T polymorphism of the angiotensinogen gene (AGT) in 93 unrelated metamphetamine-dependent subjects and 131 controls. Our results did not prove any association of TaqI A polymorphism of the DRD2 gene, I/D polymorphism of ACE gene, and M235T polymorphism of AGT gene with the metamphetamine dependence in Caucasians of Czech origin. However, a significant difference in allele I frequency between male and female control groups for the I/D ACE polymorphism (p<0.03) was found.