Receptor Gene Polymorphisms

Objective: Attention deficit hyperactivity disorder (ADHD) is a developmental disorder which is characterized by inattention, impulsiveness, and hyperactivity. The etiology of ADHD is not completely understood, but it is well known that the disorder has a moderate to high genetic component, with an estimated heritability of 76%. Polymorphic variants in several genes involved in regulation of the dopamine and related neurotransmitter pathways have been reported to be associated with ADHD. In this research we aimed to investigate the relationship between adult ADHD and DAT1 (dopamine transporter), DRD4 (dopamine D4 receptor), DRD3 (dopamine D3 receptor) gene polymorphisms.Method: Our study comprised unrelated 79 subjects who met DSM-IV criteria for adult ADHD and 75 controls and all were living in Denizli. All of the patients were evaluated with Wender-Utah Rating Scale and Adult ADD/ADHD DSM IV-Based Diagnostic Screening and Rating Scale. With written informed consent, a blood sample was drawn from each subject individual. Venous blood samples were collected in ethylene diamine tetra acetic acid (EDTA) containing tubes. DNA was extracted from whole blood and genetic analyses were performed as described in the literature by using Polymerase Chain Reaction method. SSPSS 15.0 for Windows was used for statistical analyses.Results: Twenty-three of ADHD patients were defined as predominantly inattentive type, 22 of ADHD patients were defined as predominantly hyperactive-impulsive, and the rest of them were defined as combined type ADHD. 10/10 and 9/10 repeats were most relevant genotypes in both study and control group for DAT1 VNTR (variable number of tandem repeat) polymorphism. 4/4 and 4/7 repeats were mostly found in both study and control groups for DRD47- repeat allele gene polymorphism. Ser/Ser polymorphism was the most relevant genotype in both study and control group for DRD3 Ser9Gly gene polymorphism. DAT1 VNTR, DRD3 Ser9Gly, and DRD4 7- repeat allele gene polymorphisms were not associated with ADHD. These gene polymorphisms were also not associated with subtypes of ADHD.Conclusions: We couldn't detect any association between DAT1 VNTR, DRD3 Ser9Gly, and DRD4 7- repeat allele gene polymorphisms and adult ADHD. Ethnicity and sample size are important factors at case control type genetic studies. European studies mostly reported an association between polymorphism of these genes and ADHD, but majority of Middle Eastern and Asian studies didn't report such an association between these genes and ADHD. Multi centered future studies using genome wide scan and variable tandem repeat techniques with larger samples would be helpful for understanding the role of dopaminergic system at ADHD genetics

Association of adult attention deficit hyperactivity disorder with dopamine transporter gene, dopamine D3 receptor, and dopamine D4 receptor gene polymorphisms

Objective: Attention deficit hyperactivity disorder (ADHD) is a developmental disorder which is characterized by inattention, impulsiveness, and hyperactivity. The etiology of ADHD is not completely understood, but it is well known that the disorder has a moderate to high genetic component, with an estimated heritability of 76%. Polymorphic variants in several genes involved in regulation of the dopamine and related neurotransmitter pathways have been reported to be associated with ADHD. In this research we aimed to investigate the relationship between adult ADHD and DAT1 (dopamine transporter), DRD4 (dopamine D4 receptor), DRD3 (dopamine D3 receptor) gene polymorphisms. Method: Our study comprised unrelated 79 subjects who met DSM-IV criteria for adult ADHD and 75 controls and all were living in Denizli. All of the patients were evaluated with Wender-Utah Rating Scale and Adult ADD/ADHD DSM IV-Based Diagnostic Screening and Rating Scale. With written informed consent, a blood sample was drawn from each subject individual. Venous blood samples were collected in ethylene diamine tetra acetic acid (EDTA) containing tubes. DNA was extracted from whole blood and genetic analyses were performed as described in the literature by using Polymerase Chain Reaction method. SSPSS 15.0 for Windows was used for statistical analyses. Results: Twenty-three of ADHD patients were defined as predominantly inattentive type, 22 of ADHD patients were defined as predominantly hyperactive-impulsive, and the rest of them were defined as combined type ADHD. 10/10 and 9/10 repeats were most relevant genotypes in both study and control group for DAT1 VNTR (variable number of tandem repeat) polymorphism. 4/4 and 4/7 repeats were mostly found in both study and control groups for DRD4 7- repeat allele gene polymorphism. Ser/Ser polymorphism was the most relevant genotype in both study and control group for DRD3 Ser9Gly gene polymorphism. DAT1 VNTR, DRD3 Ser9Gly, and DRD4 7- repeat allele gene polymorphisms were not associated with ADHD. These gene polymorphisms were also not associated with subtypes of ADHD. Conclusions: We couldn't detect any association between DAT1 VNTR, DRD3 Ser9Gly, and DRD4 7- repeat allele gene polymorphisms and adult ADHD. Ethnicity and sample size are important factors at case control type genetic studies. European studies mostly reported an association between polymorphism of these genes and ADHD, but majority of Middle Eastern and Asian studies didn't report such an association between these genes and ADHD. Multi centered future studies using genome wide scan and variable tandem repeat techniques with larger samples would be helpful for understanding the role of dopaminergic system at ADHD genetics

Receptor Gene Polymorphisms

Objective: Attention deficit hyperactivity disorder (ADHD) is a developmental disorder which is characterized by inattention, impulsiveness, and hyperactivity. The etiology of ADHD is not completely understood, but it is well known that the disorder has a moderate to high genetic component, with an estimated heritability of 76%. Polymorphic variants in several genes involved in regulation of the dopamine and related neurotransmitter pathways have been reported to be associated with ADHD. In this research we aimed to investigate the relationship between adult ADHD and DAT1 (dopamine transporter), DRD4 (dopamine D4 receptor), DRD3 (dopamine D3 receptor) gene polymorphisms.Method: Our study comprised unrelated 79 subjects who met DSM-IV criteria for adult ADHD and 75 controls and all were living in Denizli. All of the patients were evaluated with Wender-Utah Rating Scale and Adult ADD/ADHD DSM IV-Based Diagnostic Screening and Rating Scale. With written informed consent, a blood sample was drawn from each subject individual. Venous blood samples were collected in ethylene diamine tetra acetic acid (EDTA) containing tubes. DNA was extracted from whole blood and genetic analyses were performed as described in the literature by using Polymerase Chain Reaction method. SSPSS 15.0 for Windows was used for statistical analyses.Results: Twenty-three of ADHD patients were defined as predominantly inattentive type, 22 of ADHD patients were defined as predominantly hyperactive-impulsive, and the rest of them were defined as combined type ADHD. 10/10 and 9/10 repeats were most relevant genotypes in both study and control group for DAT1 VNTR (variable number of tandem repeat) polymorphism. 4/4 and 4/7 repeats were mostly found in both study and control groups for DRD47- repeat allele gene polymorphism. Ser/Ser polymorphism was the most relevant genotype in both study and control group for DRD3 Ser9Gly gene polymorphism. DAT1 VNTR, DRD3 Ser9Gly, and DRD4 7- repeat allele gene polymorphisms were not associated with ADHD. These gene polymorphisms were also not associated with subtypes of ADHD.Conclusions: We couldn't detect any association between DAT1 VNTR, DRD3 Ser9Gly, and DRD4 7- repeat allele gene polymorphisms and adult ADHD. Ethnicity and sample size are important factors at case control type genetic studies. European studies mostly reported an association between polymorphism of these genes and ADHD, but majority of Middle Eastern and Asian studies didn't report such an association between these genes and ADHD. Multi centered future studies using genome wide scan and variable tandem repeat techniques with larger samples would be helpful for understanding the role of dopaminergic system at ADHD genetics

Receptor Gene Polymorphisms

Objective: Attention deficit hyperactivity disorder (ADHD) is a developmental disorder which is characterized by inattention, impulsiveness, and hyperactivity. The etiology of ADHD is not completely understood, but it is well known that the disorder has a moderate to high genetic component, with an estimated heritability of 76%. Polymorphic variants in several genes involved in regulation of the dopamine and related neurotransmitter pathways have been reported to be associated with ADHD. In this research we aimed to investigate the relationship between adult ADHD and DAT1 (dopamine transporter), DRD4 (dopamine D4 receptor), DRD3 (dopamine D3 receptor) gene polymorphisms.Method: Our study comprised unrelated 79 subjects who met DSM-IV criteria for adult ADHD and 75 controls and all were living in Denizli. All of the patients were evaluated with Wender-Utah Rating Scale and Adult ADD/ADHD DSM IV-Based Diagnostic Screening and Rating Scale. With written informed consent, a blood sample was drawn from each subject individual. Venous blood samples were collected in ethylene diamine tetra acetic acid (EDTA) containing tubes. DNA was extracted from whole blood and genetic analyses were performed as described in the literature by using Polymerase Chain Reaction method. SSPSS 15.0 for Windows was used for statistical analyses.Results: Twenty-three of ADHD patients were defined as predominantly inattentive type, 22 of ADHD patients were defined as predominantly hyperactive-impulsive, and the rest of them were defined as combined type ADHD. 10/10 and 9/10 repeats were most relevant genotypes in both study and control group for DAT1 VNTR (variable number of tandem repeat) polymorphism. 4/4 and 4/7 repeats were mostly found in both study and control groups for DRD47- repeat allele gene polymorphism. Ser/Ser polymorphism was the most relevant genotype in both study and control group for DRD3 Ser9Gly gene polymorphism. DAT1 VNTR, DRD3 Ser9Gly, and DRD4 7- repeat allele gene polymorphisms were not associated with ADHD. These gene polymorphisms were also not associated with subtypes of ADHD.Conclusions: We couldn't detect any association between DAT1 VNTR, DRD3 Ser9Gly, and DRD4 7- repeat allele gene polymorphisms and adult ADHD. Ethnicity and sample size are important factors at case control type genetic studies. European studies mostly reported an association between polymorphism of these genes and ADHD, but majority of Middle Eastern and Asian studies didn't report such an association between these genes and ADHD. Multi centered future studies using genome wide scan and variable tandem repeat techniques with larger samples would be helpful for understanding the role of dopaminergic system at ADHD genetics

Lack of correlation between bone density and coronary artery calcification in hemodialysis patients

44th ERA-EDTA Congress -- JUN 22-24, 2007 -- Barcelona, SPAINWOS: 000253320600493ERA-EDT

Investigating the scientific process skills of medical students in relation to medical decision making: Research on basic medical science competence

Background: Medical students are expected to convey scientific literacy and possess certain scientific skills prior to being admitted to medical schools. Laboratory practices being provided during their education play a crucial role in their professional development and the usefulness of these practices is possible and can be enriched if the students possess prior scientific skills. The purpose of this study is to determine the scientific process skills of second year medical students in Suleyman Demirel University, Faculty of Medicine, Turkey. Methods: The study was conducted in April 2006 by using the Scientific Process Skills Questionnaire (SPSQ) for laboratory practices. Randomly selected (n = 76) second year medical students participated in the study. Results: Nine basic scientific process skills were investigated. All of the students responded correctly to the question that measured their ability to interpret data. Students abilities to set up hypothesis and make estimations were found quite high. (94.7 %, 92.1 % respectively) The two skills that were challenging to students were the ability to make an observation and their proficiency in scales. The percentage of correct responses to those questions were 50 % and 50.5 % respectively. Conclusions: The study suggests that students in the study group possess the necessary scientific process skills at some degree (86 %). However, this ratio, thus the productivity of laboratory practices can be enhanced by building up on skills such as making observations and interpreting scales. Quality in medical education cannot be achieved if we do not provide our students with basic scientific process skills early in their education

Robust, Long-Term Culture of Endoderm-Derived Hepatic Organoids for Disease Modeling

Organoid technologies have become a powerful emerging tool to model liver diseases, for drug screening, and for personalized treatments. These applications are, however, limited in their capacity to generate functional hepatocytes in a reproducible and efficient manner. Here, we generated and characterized the hepatic organoid (eHEPO) culture system using human induced pluripotent stem cell (iPSC)-derived EpCAM-positive endodermal cells as an intermediate. eHEPOs can be produced within 2 weeks and expanded long term (>16 months) without any loss of differentiation capacity to mature hepatocytes. Starting from patient-specific iPSCs, we modeled citrullinemia type 1, a urea cycle disorder caused by mutations in the argininosuccinate synthetase (ASST) enzyme. The disease-related ammonia accumulation phenotype in eHEPOs could be reversed by the overexpression of the wild-type ASS1 gene, which also indicated that this model is amenable to genetic manipulation. Thus, eHEPOs are excellent unlimited cell sources to generate functional hepatic organoids in a fast and efficient manner

Thiol/Disulfide homeostasis in patients with rheumatoid arthritis

Background. Oxidative stress may play an important role in rheumatoid arthritis (RA) etiopathogenesis. The thiol group is a very strong antioxidant. In this study, we aimed to investigate the presence of oxidative stress in patients with RA by evaluating thiol/disulfide homeostasis

Approach of pulmonologists in Turkey to noninvasive mechanical ventilation use at home for chronic respiratory failure

WOS: 000386262800001PubMed ID: 27266279Introduction: To define approach of pulmonologists in Turkey to noninvasive mechanical ventilation ( NIV) use for chronic respiratory failure ( CRF), the most currently applied technique for home mechanical ventilation. Patients and Methods: A 38-question survey, developed and tested by the authors, was distributed throughout Turkey to 2205 pulmonologists by e-mail. Results: Twenty-seven percent of the pulmonologists responded ( n= 596). Domiciliary NIV was reported to be prescribed by 340 physicians [ 57.1% of all responders and 81% of pulmonologists practicing NIV at clinical practice ( n= 420)]. NIV prescription was associated with physician's title, type of hospital, duration of medical license, total number of patients treated with NIV during residency and current number of patients treated with NIV per week ( p< 0.05). Main estimated indications were listed as chronic obstructive pulmonary disease ( median, 25-75 percentile of the prescriptions: 75%, 60-85), obesity hypoventilation syndrome ( 10%, 2-15), overlap syndrome ( 10%, 0-20) and restrictive lung disease ( 5%, 2-10). For utilization of NIV at home, Bilevel positive airway pressure-spontaneous mode ( 40%, 0-80) and oronasal mask ( 90%, 60-100) were stated as the most frequently recommended mode and interface, respectively. Pressure settings were most often titrated based on arterial blood gas findings ( 79.2%). Humidifier was stated not to be prescribed by approximately half of the physicians recommending domicilliary NIV, and the main reason for this ( 59.2%) was being un-refundable by social security foundation. Conclusion: There is a wide variation in Turkey for prescription of NIV, which is supposed to improve clinical course of patients with CRF. Further studies are required to determine the possible causes of these differences, frequency of use and patient outcomes in this setting