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

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Sanja Dimitrijevic ◽  
Suzana Cvjeticanin ◽  
Aleksandra Pusica ◽  
Biljana Jekic ◽  
Tamara Filipovic ◽  
...  

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.

Genetika ◽  
2015 ◽  
Vol 47 (2) ◽  
pp. 765-776
Author(s):  
Suzana Cvjeticanin

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.


2008 ◽  
Vol 136 (9-10) ◽  
pp. 519-523 ◽  
Author(s):  
Suzana Cvjeticanin ◽  
Dejan Nikolic ◽  
Ivana Petronic ◽  
Biljana Jekic ◽  
Tatjana Damnjanovic ◽  
...  

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.


Genetika ◽  
2016 ◽  
Vol 48 (2) ◽  
pp. 743-751 ◽  
Author(s):  
Slavko Brankovic ◽  
Suzana Cvjeticanin

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.


1967 ◽  
Vol 13 (10) ◽  
pp. 900-908 ◽  
Author(s):  
Brigitta Mellerup

Abstract A method for the determination of serum arginase is given which combines the enzymatic formation of urea with the sensitive method of Coulombe (1) for measuring this substance. This procedure allows more accurate determinations in the normal range than do previous methods described and is convenient for clinical routine. Significant difference is found between the mean values of normal men and women, 3.9 units/L. for the former and 2.9 units/L. for the latter.


2015 ◽  
Vol 1 (6) ◽  
pp. 270
Author(s):  
Audumbar Digambar Mali ◽  
Ritesh Bathe ◽  
Manojkumar Patil ◽  
Ashpak Tamboli

Simple, fast and reliable spectrophotometric methods were developed for determination of Levocetirizine in bulk and pharmaceutical dosage forms. The solutions of standard and the sample were prepared in methanol. The quantitative determination of the drug was carried out using the zero order derivative values measured at 230 nm and the area under the curve method values measured at 227-234 nm (n=2). Calibration graphs constructed at their wavelengths of determination were linear in the concentration range of Levocetirizine using 5-25?g/ml (r=0.998 and r=0.999) for zero order and area under the curve spectrophotometric method. All the proposed methods have been extensively validated as per ICH guidelines. There was no significant difference between the performance of the proposed methods regarding the mean values and standard deviations. Developed spectrophotometric methods in this study are simple, accurate, precise and sensitive to assay of Levocetirizine in tablets.


1980 ◽  
Vol 94 (4) ◽  
pp. 498-502 ◽  
Author(s):  
Toshio Tanaka ◽  
Shoichi Katayama ◽  
Kanji Kuma ◽  
Hajime Tamai ◽  
Fumio Matsuzuka ◽  
...  

Abstract. The clinical picture and serum antithyroid antibodies in 16 pairs of siblings with Graves' disease were compared with an age and sex matched group of 32 patients with Graves' disease who did not have a family history of any thyroid disease (control patients). There was a significant difference in frequency and mean titres of antibodies to thyroglobulin between sibling patients. (positive 76.0%) and control patients (positive 40.0%), but not in microsomal antibodies (sibling; positive 92.0%, control; 92.0%). There were no significant differences in the mean values of 24 h 131I-thyroidal uptake, serum T3U, serum T4 and T3 concentrations before treatment between the two groups. Lymphoid follicles and degeneration of the epithelia were more often found in the thyroid glands of sibling patients than in those of the control patients, when 32 (16 sibling, 16 control) thyroid glands from the same groups in the clinical study, including antibody series, were examined pathologically after subtotal thyroidectomy for Graves' disease. Moreover, there was a strong tendency to increased lymphocyte and plasma cell infiltration in the thyroid glands of sibling patients with Graves' disease. The findings might indicate that Graves' disease is closely related to Hashimoto's thyroiditis, especially in sibling patients with Graves' disease.


Author(s):  
Jairo Ivo dos Santos ◽  
Cidônia de Lourdes Vituri

Up to now few reports about haematological alterations induced by Giardia lamblia infection have been described. Because there are questions on this matter still not answered, we carried out a study to evaluate some erythrometric and leucometric parameters in a sample that consisted of 55 patients exclusively infected with G. lamblia and of 55 sex and age matched parasite-free individuals. The haematological parameters evaluated were: mean corpuscular volume (MCV), hemoglobin concentration, and relative and absolute number of eosinophils and lymphocytes. No significant differences in the mean values of MCV, hemoglobin levels and absolute relative lymphocyte numbers between the two groups could be detected. When the giardiasis and control groups were separated by pediatric (0-18 years old) and adult (older than 18 years) classes, a very significant difference in both relative and absolute number of eosinophils in the adult class was observed. With respect of the pediatric class, no differences, either in relative and absolute number of eosinophils, could be observed. Our findings suggest that, during G. lamblia infection, some kind of parasite allergen(s) could be secreted and be responsible for the increasing of eosinophil counts in peripheral blood of adults.


2014 ◽  
Vol 10 (3) ◽  
pp. 2325-2328
Author(s):  
Barge V. U. ◽  
Jadhav P. B. ◽  
Attarde S. R. ◽  
Kodre K. V. ◽  
Patil R. Y

UV, first, second and third derivative spectrophotometric methods have been developed for the determination of meglumine. The solutions of standard and sample were prepared in distilled water. For the first method i.e. calibration curve UV spectrophotometric method, the quantitative determination of the drug was carried at 254 nm and the linearity range was found to be 10 – 60 µg/ml. For the first, second, third derivative spectrophotometric methods the drug was determined at 247 nm, 216 nm, 266 nm with the linearity range 10 – 60 µg /ml. The calibration graphs constructed at their wavelength of determination were found to be linear for UV and derivative spectrophotometric methods. All the proposed methods have been extensively validated. There was no significant difference between the performance of the proposed methods regarding the mean values and standard deviations.


2015 ◽  
Vol 1 (3) ◽  
pp. 156 ◽  
Author(s):  
Santosh Balaso Jadhav ◽  
Nilesh Patil ◽  
Ashpak Tamboli

Simple, fast and reliable spectrophotometric methods were developed for determination of Oxcarbazepine in bulk and pharmaceutical dosage forms. The solutions of standard and the sample were prepared in Distilled Water. The quantitative determination of the drug was carried out using the zero order derivative values measured at 256 nm and the area under the curve method values measured at 252-258 nm (n=2). Calibration graphs constructed at their wavelengths of determination were linear in the concentration range of Oxcarbazepine using 5-25 ?g/.ml (r=0.998 and r=0.9986) for zero order and area under the curve spectrophotometric method. All the proposed methods have been extensively validated as per ICH guidelines. There was no significant difference between the performance of the proposed methods regarding the mean values and standard deviations. Developed spectrophotometric methods in this study are simple, accurate, precise and sensitive to assay of Oxcarbazepine in tablets.


2015 ◽  
Vol 1 (3) ◽  
pp. 137 ◽  
Author(s):  
Rekha Kharat ◽  
Santosh Jadhav ◽  
Dilshadbee Tamboli ◽  
Ashpak Tamboli

Simple, fast and reliable spectrophotometric methods were developed for determination of Ciprofloxacin Hydrochloride in bulk and pharmaceutical dosage forms. The solutions of standard and the sample were prepared in Distilled Water. The quantitative determination of the drug was carried out using the zero/0th, first, and second order method values measured at264, 273and 273 nm respectively. Calibration graphs constructed at their wavelengths of determination were linear in the concentration range of Ciprofloxacin Hydrochloride using 2-10?g/ml (r=0.9991, r=0.9993, r=0.9955) for zero, first and second order spectrophotometric method. All the proposed methods have been extensively validated as per ICH guidelines. There was no significant difference between the performance of the proposed methods regarding the mean values and standard deviations. The developed methods were successfully applied to estimate the amount of Ciprofloxacin Hydrochloride in pharmaceutical formulations.


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