Degree of genetic homozygosity among patients with spinal dysraphia

INTRODUCTION Our study of genetic homozygosity degree includes an analysis of the presence, distribution and individual combination of 15 selected genetically controlled morphophysiological traits in the sample of patients with spinal dysraphia (N=35) and in the control-healthy group (N=50). OBJECTIVE Assuming that spinal dysraphia is a genetically controlled disease, we made a hypothesis that an increased homozygosity level, as well as the changed variability among patients, could be a population-genetic parameter for the prediction of the illness. METHOD Taking into consideration our experience, as well as the experience of numerous scientists who studied the nature of the inheritance of monoand oligo-genically controlled qualitative traits, we applied a methodology to estimate the proportion of such homozygously recessive characters (HRC-test,). RESULTS This population-genetic study did not only show a statistically significant difference of the mean values of genetic homozygosity (SD 4.8?0.3; control 3.5?0.3), but of the differences in the type of distribution too, as well as the differences in the presence of certain individual combinations of such traits. CONCLUSION Due to the fact that those genes which control such qualitative recessive traits are distributed in different human chromosomes, being their visible markers, this could indicate that degrees of genetic homozygosity are ostensibly greater in a sample of patients with spinal dysraphia compared to the control group of individuals.

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Anthropogenetic variability in the groups of homo- and heterosexually oriented individuals

Genetika ◽

10.2298/gensr1502765c ◽

2015 ◽

Vol 47 (2) ◽

pp. 765-776

Author(s):

Suzana Cvjeticanin

Keyword(s):

Genetic Variability ◽

Population Genetic ◽

Control Group ◽

Population Genetic Study ◽

Test Results ◽

Mean Values ◽

Significant Difference ◽

The Mean ◽

Distribution Type

This population-genetic study compares morphophysiological and genetic variability in a group of homosexually oriented individuals from Serbia (N=96) with control group of heterosexual individuals (N=96) using a test of determination of homozygously recessive characteristics in humans (HRC-test). Results of our study revealed a statistically significant difference in the mean values of genetic homozygosity (control group 5.0+0.2 ; homosexuals 3.4 +0.1 HRCs, out of 20 observed characteristics) the differences in the distribution type, as well as in the variances of presence of specific combinations of such traits. These results suggest a complex polygenic difference between two observed systems. There is no difference in the degree of genetic homozygosity between the genders in each tested group of individuals. However, both homosexually oriented females and males have significantly lower mean values of HRCs compared to female and male heterosexuals.

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Anthropogenetic Variability in the Group of Individuals with Febrile Seizures: Population-Genetic Study

BioMed Research International ◽

10.1155/2018/7845904 ◽

2018 ◽

Vol 2018 ◽

pp. 1-6 ◽

Cited By ~ 1

Author(s):

Sanja Dimitrijevic ◽

Suzana Cvjeticanin ◽

Aleksandra Pusica ◽

Biljana Jekic ◽

Tamara Filipovic ◽

...

Keyword(s):

Population Genetic ◽

Febrile Seizures ◽

Population Genetic Study ◽

Mean Values ◽

Clinical Appearance ◽

Significant Difference ◽

The Mean ◽

And Control ◽

Great Stress

Febrile seizures (FS) are the most common neurological disorder in childhood and are a great stress for parents due to their dramatic clinical appearance. Using test for determination of homozygously recessive characteristics in humans (HRC test) we analyzed presence, distribution, and individual combination of 20 selected genetically controlled morphophysiological traits among FS patients (N=121) and control (N=121) to determine a possible deviation in the homozygosity level and genetic loads in the group of affected children and whether there is a predisposition to the occurrence of FS. The results of our study show a statistically significant difference in the mean values of the HRC tested (x¯HRC/20 CN = 3.2 ± 0.2; x¯HRC/20 FS = 4.6 ± 0.2, t= 5.74 , p< 0.0001), as well as in the distribution and variability of two studied samples (VC=55,3%, VFS= 39,6%), which indicates a complex polygenic difference among the tested groups of subjects. The differences in the degree of genetic homozygosity and variability are also present between the genders (t Cf/FSf = 4.12; t Cm/FSm = 3.98; p <0.0001) (VCf=56.9%, VFSf= 39.3%; VCm=54.1%, VFSm=40.1%). Obtained results indicate the enlargement of recessively homozygous genetic loads in the group of children with FS which may represent some kind of predisposition for expressivity of this type of seizures.

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Anthropogenetic variability in groups of children from regular and special schools from different localities in Serbia

Genetika ◽

10.2298/gensr1602743b ◽

2016 ◽

Vol 48 (2) ◽

pp. 743-751 ◽

Cited By ~ 2

Author(s):

Slavko Brankovic ◽

Suzana Cvjeticanin

Keyword(s):

Control Group ◽

Population Genetic Study ◽

Control Groups ◽

Special Schools ◽

Mean Values ◽

Significant Difference ◽

Mental Abilities ◽

The Mean ◽

Physical Capacities

This population-genetic study compares morpholophysiological and genetic variability in five control groups of individuals (children from five regular schools, N= 996) with children from that many special schools (N= 736) from Serbia, by using a test of determination of homozygously recessive characteristics in humans (HRC-test). Genetic homozygosity degree showed not only statistically significant difference between the mean values obtained for two groups of studied samples (control group 6.95? 0.07; children from special schools 8.63? 0.08 HRCs, out of 30 analyzed characteristics), but also differences in the type of distribution, as well as the presence of specific combinations of such traits. Results of comparisons done in different places (Kraljevo, Nis, Vranje, Leskovac, Pirot) showed the same tendency- the increase of genetic homozygosity and relative decrease of variability in samples of children from special schools. The number of HRCs among individuals from control groups varied from 2 to 15/30, and from 3 to 16/30 among children from special schools. It is possible that increased recessive homozygosity present in the group of children from special schools leads to increase of genetic loads, what may cause easier expression of some physiological and mental abilities that children from special schools have.A great individual variation in amount of genetic homozygosity that exists among human individuals may influence their potentials for different kinds of adaptation, including their mental abilities, physical capacities or resistance to different diseases.

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The Effect of Smoking on the Lipid Profile of Inhabitant Smokers of Hasilpur, District Bahawalpur, Pakistan

RADS Journal of Biological Research & Applied Sciences ◽

10.37962/jbas.v10i2.200 ◽

2020 ◽

Vol 10 (2) ◽

pp. 82-86

Author(s):

Mushtaq Hussain Lashari ◽

Sumbel Sumera ◽

Umer Farooq ◽

Zia Ur Rehman ◽

Nuzhat Sial ◽

...

Keyword(s):

Lipid Profile ◽

Serum Triglyceride ◽

Mean Value ◽

Heavy Smoker ◽

Control Group ◽

Mean Values ◽

Significant Difference ◽

The Mean ◽

Control Light ◽

Heavy Smokers

Background: Health problem are culturally associated with smoking in developing countries. Many hazardous chemicals are taken up by direct or passive smoking causing lipid peroxidation resulting in oxidative stress. Objectives: To estimate the occurrence of smoking and its effects on the lipid profile in populations of Hasilpur, Pakistan. Methodology: The current study was conducted from April - August 2014. Out of 247 apparently healthy subjects of both genders (male=220; female=27), 134 were smokers and 113 were non-smokers. In order to analyze lipid profile, blood samples were collected in early morning hours from the selected members who were asked to fast all night. By using Chem-100 chemistry analyzer, cholesterol, triglyceride, HDL, LDL and VLDL were analyzed. Results: The overall prevalence of smokers was 54.25%. The results showed 60.9% prevalence in males and 0% in females. The mean value of serum triglyceride in control, light smokers and heavy smokers was 147.4±11.7mg/dl, 190.8±41.4 and 205.3±29.7mg/dl, respectively. The results of cholesterol in control, light smokers and heavy smokers were 147.38±7.99mg/dl, 136.8 ±12. 8mg/dl and 173.44±8.63mg/dl, respectively. There was a considerable distinction in the mean level of serum triglyceride and cholesterol between the control group, light smokers and heavy smoker groups (P<00.5). The mean value of HDL of control, light smokers and heavy smokers was 30.93±1.30mg/dl, 31.10±2.45 and 34.58±1.55mg/dl, respectively. The mean values of LDL and VLDL of control, light smokers and heavy smokers were 110.46±3.63mg/dl, 106.00±4.52mg/dl, 117.19±3.48mg/dl and 33.54±3.11mg/dl, 49±9.02mg/dl, 41.06±5.34mg/dl, respectively. There was significant difference in the mean level of HDL, LDL and VLDL between the control group, light smokers and heavy smoker groups (P<0.05). Conclusion: This study concluded that smoking is the reasons of variation in the lipid profile. Elevated period of smoking and the number of smoked cigarettes/day reason the alteration in serum lipid levels and is probably related with increased danger for coronary artery disease.

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CD59 Deficient Granulocytes in High Risk Groups of Myelodysplastic Syndromes (MDS).

Blood ◽

10.1182/blood.v104.11.4717.4717 ◽

2004 ◽

Vol 104 (11) ◽

pp. 4717-4717

Author(s):

Georgia Kaiafa ◽

Vasiliki Tsavdaridou ◽

Athanasios Papadopoulos ◽

Christos Savopoulos ◽

Apostolos Hatzitolios ◽

...

Keyword(s):

Normal Subjects ◽

Risk Groups ◽

Mean Value ◽

Control Group ◽

Refractory Anaemia ◽

Mean Values ◽

Significant Difference ◽

The Mean ◽

Group B ◽

Pnh Clone

Abstract Background: Blood cells are deficient in membrane-bound glycosyl-phosphatidylinositol (GPI)-anchored proteins in paroxysmal nocturnal hemoglobinuria (PNH) because of an acquired disorder of the pluripotent stem cell. CD55 and CD59 antigens are the most common GPI-anchored proteins that are used for the diagnosis of the presence of PNH clone. The association of MDS with PNH is rather controversial. There are few published individual cases of PNH arrived from a previous MDS or MDS following PNH. Aim: Recent studies have demonstrated the existence of PNH clone in some MDS patients. These studies were performed mostly on erythrocytes and to the best of our knowledge they are only 4. Granulocytes appear to be more sensitive markers of PNH clone existence than erythrocytes and therefore we investigate the expression of PNH clone on granulocytes of patients with MDS. Material-Methods: A total number of 95 patients 25–80 yrs old with MDS {A:19 with refractory anaemia (RA), B:9 with refractory anaemia with ring sideroblasts (RARS), C:17 with refractory anaemia with excess blasts (RAEB), D: 12 with refractory anaemia with excess blasts in transformation (RAEB-t) and E: 19 with chronic myelomonocytic leukemia (CMLL)} and 19 healthy donors were included in our study. The presence of GPI-anchored proteins (CD55, CD59)-deficient granulocytes was examined by flow cytometry. For the detection of the PNH clone the commercial kit by Beckman Coulter (cellquant CD55/CD59) was used. Statistical analysis was made by ANOVA, while Robust test was performed because there was no homogeneity of variances by ANOVA. Results: Table 1 shows the percentages of CD55 and CD59 deficient granulocytes in the 5 groups of pts with MDS comparing with the control group. a) Although the mean values of CD55 deficient granulocytes in the groups RAEB, RAEB-t and CMLL were higher enough than those of the normal subjects, there were no statistically significant differences (p>0.10) in the comparison of the mean values of CD55 deficient granulocytes between each group of patients with the control group. b) On the contrary there was a very statistically significant difference in the comparison of the mean value of CD59 deficient granulocytes between the three last groups (C, D and E) of pts with the control group (p< 0.086, p< 0.001 and p<0.001 respectively). The percentages of CD55 and CD59 deficient granulocytes in the 5 groups of patients with MDS and in the control group CD55 CD55 CD59 CD59 Groups N Mean Value Std deviation Mean Value Std deviation A (RA) 19 2.89 2.79 2.91 2.85 B (RARS) 9 1.05 1.14 3.89 3.63 C (RAEB) 17 4.78 4.76 11.75 6.06 D (RAEB-t) 12 4.23 2.85 23.76 8.53 E (CMLL) 19 6.01 4.97 38.26 16.18 Control 19 3.67 2.89 3.67 2.89 Total 95 4.00 3.87 14.44 16.39 Conclusions: There are relatively large CD59 negative subpopulations (mean values 11.75–38.26%) of granulocytes in the last three groups (RAEB, RAEB-t, CMLL) of MDS patients. On the contrary the two low risk forms (RA, RARS) revealed no such populations. Non-expression of CD59 antigen on granulocytes is a more sensitive marker than that of CD55 antigen for the presence of a possible PNH clone in MDS patients.

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Carbocysteine in the Management of Stable COPD: Are Its Antioxidant and Anti-Inflammatory Properties Clinically Relevant?

South East European Journal of Immunology ◽

10.3889/seejim.2017.20011 ◽

2017 ◽

Vol 2017 ◽

pp. 1 ◽

Cited By ~ 1

Author(s):

Jordan Minov ◽

Jovanka Karadzinska-Bislimovska ◽

Tatjana Petrova ◽

Kristin Vasilevska ◽

Saso Stoleski ◽

...

Keyword(s):

Real Life ◽

Mean Value ◽

Control Group ◽

Chronic Obstructive ◽

Initial Visit ◽

Mean Values ◽

Regular Treatment ◽

Positive Effects ◽

Significant Difference ◽

The Mean

BACKGROUND: The recent epidemiological and experimental evidence suggest possible antioxidant effect of carbocysteine in patients with chronic obstructive pulmonary disease (COPD).AIM: To assess efficacy and tolerability of carbocysteine in the management of stable COPD.METHODS: We performed an observational, non-randomized, open study (a real life study) including 87 patients with stable COPD (group B and D by combined COPD assessment) divided in two groups, examined group (EG) and control group (CG). All participants were treated with the regular treatment of the stable disease, but in the participants of the EG carbocysteine 1,500 mg daily was added to their regular treatment during the period of two months. The study protocol included completion of the COPD Assessment Test (CAT) and spirometric measurements at initial visit and at the end of the mentioned period.RESULTS: We found significantly lower mean value of the overall CAT score in the EG at the end of the study as compared to its mean value registered at initial visit (26.9 vs. 24.3; P = 0.007). In regard to certain CAT items, we found significantly lower values of the mean scores related to cough phlegm and sleep disturbances as compared to their mean scores at initial visit. In addition, the mean values of the overall CAT scores at initial visit and at the end of the study in controls were similar. In EG we found significantly higher mean value of the MEF 25-75 at the end of the study as compared to its mean value registered at initial visit (59.3% vs. 67.2%; P = 0.003). There was no significant difference in the mean values of other spirometric parameters at the end of the study as compared to their mean values at initial visit. In controls we registered similar values of all measured spirometric parameters at the end of the study as compared to their values registered at initial visit. Mild gastrointestinal manifestations were registered in 13.3% of the participants of the EG during the examined period.CONCLUSION: Our findings indicate positive effects of carbocysteine regarding the symptoms and lung function, as well as its good tolerability in the patients with stable COPD.

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The Effects of Emotional Schema Therapy and Differentiation Training on Emotional Divorce in Women

Journal of Client-centered Nursing Care ◽

10.32598/jccnc.7.1.357.1 ◽

2121 ◽

Vol 7 (1) ◽

pp. 65-74

Author(s):

Tahmineh Kamalian ◽

◽

Hassan Mirzahosseini ◽

Nader Monirpoor ◽

◽

...

Keyword(s):

Mental Health ◽

Psychological Distress ◽

Cognitive Model ◽

Control Group ◽

Schema Therapy ◽

Mean Values ◽

Marital Intimacy ◽

Significant Difference ◽

The Mean ◽

Study Participants

Background: Emotional Divorce (ED) is associated with decreased levels of Emotion Regulation (ER), adaptation, and mental health; subsequently, all such pressures raise stress in various dimensions among the affected individuals. Emotional Schema Therapy (EST), as a socio-cognitive model of ER, may improve marital intimacy and reduce couples’ psychological distress. The present study aimed to investigate the effects of EST and differentiation training on the odds of ED among women. Methods: The mean values of ED significantly decreased in both experimental groups, compared to the control group (P<0.05). A significant difference was also observed between the effects of the two interventions on decreasing the ED rate; thus, the effectiveness of EST was greater than that of differentiation training in this respect (P<0.05). Results: The mean values of ED significantly decreased in both experimental groups, compared to the control group (P<0.05). A significant difference was also observed between the effects of the two interventions on decreasing the ED rate; thus, the effectiveness of EST was greater than that of differentiation training in this respect (P<0.05). Conclusion: EST and differentiation training reduced ED among the study participants. These approaches can be adopted as an effective intervention to solve the couples’ problems and improve their marital relationship to reduce the odds of emotional divorce.

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Assessment of selected biochemical parameters among food hawkers along the streets of Yenagoa Bayelsa State, Nigeria

GSC Biological and Pharmaceutical Sciences ◽

10.30574/gscbps.2021.16.3.0265 ◽

2021 ◽

Vol 16 (3) ◽

pp. 103-108

Author(s):

Emmanuel Tonbra Egoro ◽

Emmanuel Sunday Oni ◽

Otaraku Jonathan Oye ◽

Annabel Awele Idama

Keyword(s):

Aspartate Aminotransferase ◽

Alanine Aminotransferase ◽

Biochemical Parameters ◽

Control Group ◽

C Reactive Protein ◽

Mean Values ◽

Reactive Protein ◽

Significant Difference ◽

The Mean ◽

Experimental Group

This study was aimed on assessment of selected biochemical parameters among food hawkers along the streets of Yenagoa, Bayelsa State, Nigeria. Five milliliter of blood specimen was collected from fifteen food hawkers with ≤ 5 years working experience (experimental group one), ≥ 5 years working experience (experimental group two) and nonfood hawkers (control group) respectively into lithium heparin anti-coagulated bottles. Thereafter alanine aminotransferase, aspartate aminotransferase, urea, creatinine and C-reactive protein were measured quantitatively. The mean values of volunteers in experimental group one showed no statistically significant difference (p>0.05) in alanine aminotransferase (7.46 ± 1.02), aspartate aminotransferase (7.02 ± 0.86), urea (7.70 ± 1.29) and creatinine (70.44 ± 3.54) as compared with the control group (7.42 ± 0.98), (6.98 ± 0.82), (7.65 ± 1.28) and (70.40 ± 3.52) respectively, but there was a statistically significant difference (p<0.05) in C-reactive protein (17.40 ± 1.98) when compared with the control group (2.70 ± 0.70). However, the mean values of food hawkers in experimental group two showed statistically significant difference (p< 0.05) in all the measured biochemical parameters 27.70±2.98, 21.40±2.06, 15.50±2.02, 110.70±3.74, 29.42±3.20 as compared with that of the control group 7.42±0.98, 6.98±0.82, 7.65±1.28, 70.40±3.52, 2.74±0.70. The volunteers in experimental groups one and two showed 13% -27% and 53% -80% abnormal values of the measured biochemical parameters respectively as compared with that of the control group. In conclusion, alanine aminotransferase, aspartate aminotransferase, urea, creatinine and C-reactive protein may be altered in food hawkers with ≥ 5 years working experience. It is therefore recommended that food hawkers in this category should go for hepato-renal and inflammatory biochemical parameters checkup occasionally in any registered and licensed Medical Laboratory Facility.

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Peningkatan Pengetahuan Ibu-Ibu Rumah Tangga Dalam Perilaku Pengobatan Sendiri Untuk Penatalaksanaan Demam Dengan Metode Cara Belajar Ibu Aktif

Borneo Journal of Pharmacy ◽

10.33084/bjop.v1i1.240 ◽

2018 ◽

Vol 1 (1) ◽

pp. 27-30

Author(s):

Rezqi Handayani

Keyword(s):

Treatment Group ◽

Mean Value ◽

Pharmacological Therapy ◽

Control Group ◽

Test Results ◽

Self Medication ◽

Treatment Groups ◽

Significant Difference ◽

Level Of Knowledge ◽

The Mean

Pharmacological therapy in fever patients is to provide Antipyretic drugs, can be done by using a doctor's prescription or by self-treatment. The condition that occurs in the community is self-medication conducted in the category of irrational treatment therapy because it is not in accordance with the condition of the patient. So, it is necessary to do education using Active Mother�s Ways of Learning Method to the housewives about rational fever self-treatment. The sample in this study were 40 housewives in the Flamboyant Bawah, divided into two major groups namely the control and treatment groups. Each group was given a pretest and posttest in a questionnaire of fever management. In the treatment group, fever drug education given before posttest by used CBIA method. The results showed an increase in knowledge of housewives from before education and after education was seen from the acquisition of grades. The mean pretest value in the control group was 74.38 and the treatment group was 69.69. Statistical test results show there was no significant difference in the mean value between the control group and the treatment group. The mean posttest value in the control group was 77.81 and the treatment group was 87.50. There was a significant difference between the mean value of the control group and treatment group. From the results of the statistical analysis showed that the level of knowledge of the treatment group given education by used the CBIA method produced a higher value than the control group that was not given education.

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Genetic and Environmental Dispositions for Cardiovascular Variability: A Pilot Study

Journal of Clinical Medicine ◽

10.3390/jcm7090232 ◽

2018 ◽

Vol 7 (9) ◽

pp. 232 ◽

Cited By ~ 1

Author(s):

Radmila Karan ◽

Suzana Cvjeticanin ◽

Natasa Kovacevic-Kostic ◽

Dejan Nikolic ◽

Milos Velinovic ◽

...

Keyword(s):

Control Sample ◽

Mean Value ◽

Blood Type ◽

Control Group ◽

Mean Values ◽

Individual Variations ◽

Significant Difference ◽

Abo Blood Type ◽

The Mean ◽

Artery Disease

Background: The aim of our study was to evaluate the degree of genetic homozygosity in the group of patients with coronary artery disease (CAD), as well as to evaluate morphogenetic variability in CAD patients regarding the presence of investigated risk factors (RF) compared to a control sample of individuals. Additionally, we aimed to evaluate the distribution of ABO blood type frequencies between tested samples of individuals. Methods: This study analyzed individual phenotype and morphogenetic variability of 17 homozygously-recessive characteristics (HRC), by using HRC test in a sample of 148 individuals in CAD patients group and 156 individuals in the control group. The following RF were analyzed: hypertension, diabetes mellitus, hyperlipidemia, and smoking. Results: The mean value of HRC in CAD patients is significantly higher, while variability decreases compared to the control sample (CAD patients: 4.24 ± 1.59, control sample: 3.75 ± 1.69; VCAD-patients = 37.50%, VC = 45.07%). There is a significant difference in individual variations of 17 HRC between control sample and CAD patients (χ2 = 169.144; p < 0.01), which points out to different variability for tested genes. Mean values of HRC significantly differed in CAD patients in regard to the number of RF present. A blood type (OR = 1.75) is significant predictor for CAD, while O blood type (OR = 0.43) was significantly associated with controls. Conclusion: There is a higher degree of recessive homozygosity in CAD patients versus individuals in the control sample, and the presence of significant variations in the degree of recessive homozygosity as the number of tested RF increases.

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