scholarly journals CYP1A1 and CYP2D6 Polymorphisms and Susceptibility to Chronic Myelocytic Leukaemia

2020 ◽  
Vol 20 (9) ◽  
pp. 675-680
Author(s):  
Hadeil M.E. Idris ◽  
Hiba B. Khalil ◽  
Jeremy Mills ◽  
Abozer Y. Elderdery

Background: CYP1A1 and CYP2D6 are both xenobiotic metabolizing enzymes belonging to the CYP450 enzyme family. Polymorphisms in these genes vary between individuals, resulting in dissimilar patterns of susceptibility to the effects of carcinogenic substances and drugs. Objective: In a prospective study, the influence of CYP1A1*2C and CYP2D6*4 gene polymorphisms on the susceptibility to chronic myelocytic leukaemia (CML) were investigated. Methods: Prevalence of CYP1A1*2C and CYP2D6*4 was detected in blood specimens from three hundred participants - two hundred patients and a hundred healthy individuals as a control group, using PCR-RFLP. Results: CYP1A1 Ile/Val and Val/Val genotype frequency in our study population was 82% & 15% in CML patients and 55% & 8% in controls, respectively. This suggests that carriers had an elevated risk (OR=18.38, 95% CI=7.364-45.913, p value; =0.000 and OR=23.125,95 % CI=7.228-73.980, p value=0.000, respectively). Individuals carrying the CYP2D6 heterozygous genotype (IM) were notably fewer in number within the CML group at 43.5%, as opposed to 93% of the controls. This suggests that the IM genotype may have a prophylactic function in lowering CML risk (OR=0.036, 95% CI=0.005-0.271, p value =0.001). In spite of the distribution of the homozygous mutant (PM) genotype being higher in cases with CML (87% as opposed to 6% in the control), this difference was deemed non-significant (OR=0.558, 95% CI=0.064-4.845, p value =0.597). Conclusion: These findings indicate that polymorphic CYP1A1 and CYP2D6 genes affect the susceptibility to CML.

2020 ◽  
Vol 11 (SPL4) ◽  
pp. 2214-2223
Author(s):  
Ajay Rex R ◽  
Balaji D ◽  
Lakshmana R ◽  
Gopi Ramu ◽  
Reka

In a surgical ward, acute and continual wounds have an effect on a minimal of 1% of the population. Vacuum-assisted wound closure (VAC) is a technique of Negative pressure in the wound to improve the healing process. To study the advantage of a vacuum assisted closure over conventional dressing in the management of chronic non-healing diabetic ulcers. To study the difference in the rate of amputation, hospital stays in case and control groups. Group1-case group – vacuum associated closure therapy. Group 2-Control group -conventional dressings. Most of the patients in the study population was in the age group of 41 -60 years. 82% of the study population was within the age group of 41-60 years. The two groups are comparable with their baseline characteristic of age, and the P-value is less than 0.05. Wounds were more common in males than females. Out of the 44 patients, 26 were male, i.e. 57% of the study population were males. About 68% of wounds occurred in the foot. About 50% of the culture showed staphylococcus. Nearly 27% of study participants had no growth. The hospital stay is less in VAC dressing when compared to the conventional dressings, who have an average hospital stay of 28 days and the relation is statistically significant (p-value<0.05). Mean hospital stay in Vacuum is 21 compared to stay of 28 in conventional dressings group. Patients in Vacuum had 12 SSG,9 discharge and 1 amputation. There is no statistically significant association in terms of grade of ulcer between the two groups(P =0.23). There is a statistically significant association between VAC and conventional in terms of the results of the Doppler study. (P<0.01). From the study results, it is obvious that VAC dressing has many advantages in terms of Low no of amputation, Earlier discharge, Minimal infection, Lesser complications, Healing in a better way.


Author(s):  
Avnika Kapoor ◽  
Garima Sharma ◽  
Rita Bakshi

Background: The present study assessed the role of sildenafil in endometrial blood flow and successful pregnancy in IVF done in surrogate mothers.Methods: In the present study surrogate mothers were included. Thirty patients were randomized to receive sildenafil 25 mg thrice a day vaginally in addition to standard drugs and technique and another 30 were not given sildenafil.Results: Mean age, anthropometry, duration of infertility and pre-treatment endometrial thickness was similar in the two study groups.  After treatment completion, it was observed that the endometrial pattern in ultrasound was similar in the two study groups (p value=0.58). Heterogenic endometrial pattern was observed in 6.7% of the Sildenafil patients and 3.3% in the control patients, while echogenic pattern was seen in 10% of the sildenafil patients and 6.7% of the control patients. Similarly, endometrial thickness was 10.2±1.7 and 9.7±1.8 mm in sildenafil and control group respectively, p value=0.62. Using doppler ultrasound, uterine artery PI was significantly lower in Sildenafil group patients as compared to control group patients. Similarly, we found uterine artery RI was also significantly lower in the Sildenafil group patients as compared to control group patients. We followed the patients and found that clinical pregnancy rate was significantly higher among Sildenafil group (60%) as compared to control group (26.6%), p value<0.05.Conclusions: Vaginal sildenafil resulted in significantly higher pregnancy rates in our study population. The uterine artery PI and RI were significantly lower in patients taking sildenafil.


2020 ◽  
pp. 94-102
Author(s):  
Fredy Akbar K ◽  
Idawati Ambohamsah ◽  
Rezki Amelia

Penanggulangan balita gizi kurang dilakukan dengan cara modifikasi makanan atau berubah bentuk dan rasa makanan dari yang kurang menarik menjadi lebih menarik dan menampilkan bentuk yang lebih bagus dari aslinya.pemenuhan gizi pada balita berkaitan erat pada fungsi keluarga,dengan demikian keluarga mempunyai peran penting dalam praktik pemenuhan gizi balita. Adapun upaya atau strategi yang akan dilakukan penulis yaitu melakukan intervensi pendekatan dengan menggunakan system family Center Care kepada keluarga dalam melakukan kalaborasi guna memenuhi gizi pada balita secara mandiri yaitu melakukan modifikasi makanan balita. Berdasarkan hasil pemantauan Gizi tahun 2017 presentase gizi kurang Provinsi Sulawesi Barat balita sebesar 19,9% Dari 6 kabupaten di Sulawesi Barat Kabupaten Polewali Mandar berada pada posisi 4. Tujuan dilakukannya penelitian ini untuk melakukan modifikasi makanan pada balita untuk mengurangi prevalensi gizi kurang pada balita, dengan menggunakan jenis penelitian kuantitatif menggunakan design quasi eksperimental dan menggunakan lembar observasi guna mengetahui faktor yang menjadi masalah gizi pada balita penelitian ini digunakan karena peneliti mengelompokkan anggota sampel dan dibagi kedalam dua kelompok dengan perlakuan yang berbeda yaitu kelompok perlakuan dan kelompok control. Penelitian dilakukan di Desa Rumpa dan Buku, Kecamatan Mapilli, Kabupaten Polewali Mandar, Provinsi Sulawesi Barat. Waktu penelitian dimulai pada tanggal 27 Juli  dan 05 September 2020. Data diolah dengan menggunakan  analisis data uji statistic Chi Squart dengan tingkat signifikan p<0,05 dan jumlah responden sebanyak 70 orang dengan masing-masing kelompok berjumlah 35 orang. Hasil penelitian pada kelompok perlakuan mengalami perubahan yang signifikan sedangkan pada kelompok control tidak menunjukkan adanya perubahan yang signifikan. Malnutrition is still one of the main public health problems in Indonesia,The prevalence of malnutrition in Indonesia is still quite high. Based on the results of nutrition monitoring in 2017 the percentage of undernutrition in West Sulawesi Province under five was 19.9% ??of 6 district in West Sulawesi Polewali Mandar district is in position 4. Objectives This research was conducted to modify food in toddlers forreduce the prevalence of malnutrition in children under five and to practice manufacturing methods PMT in malnourished mothers of children under five. This type of research is quantitative and research design isquasi experimental and use the observation sheet to determine which factors become a nutritional problem in toddlers. The study population was all children under five with nutritional status less in two villages namely Rumpa Village and Buku Village, Mapilli District, Polewali Regency Mandar West Sulawesi. The number of samples is 70 respondents divided into 2 groups (treatment group and control group) each research group there are 35 respondents according to the research inclusion criteria. Sampling technique using the observation sheet and processing the data using Paired test data analysis sample t test, with a significant level of p <0.05. The timing of the study began on the 27 July and September 05 2020. Research results There is a significant relationship between food modification (menu preparation, food processing, food presentation and methods feeding) and the practice of how to make PMT Toddler results obtained a significant level p value (p = 0.00) and there is an effect of food modification and practice of making PMT to changes in body weight under five. Obtained well-nourished toddlers as much as 18 (52.4) 17 (47.6) people and children under five who were still malnourished.


2018 ◽  
Vol 1 (1) ◽  
pp. 42
Author(s):  
Yenni Yenni ◽  
Reni Reni

<p><em>The aims of this study to determine the effect of secondary prevention on the motivation of hypertension clients in controlling blood pressure. Conducted from February to March 2018 in the Neurology Room and Internation of RSUD Prof. Dr. MA. Hanafiah Batusangkar BC Tanah. This type of research was an experiment with a Quasi Experiment Design Nonequivalent Control Group design. The study population was moderate hypertension patients aged 18-59 years, taken by purposive sampling as many as 10 intervention groups and 10 control groups. Bivariate analysis using the Mann-Whitney test. Statistical tests show there is a secondary prevention effect on the motivation of hypertensive clients in controlling blood pressure. p value = 0.012 (p value &lt;0.05). The average value of the motivation of the intervention group was 69.0, SD 8.313,  Mean Rank 13.8 and the control group 58.70, SD 3.683,  Mean Rank 7.20. It can be concluded that there is an effect of the secondary prevention implementation on the motivation of hypertensive clients in controlling blood pressure. It is expected that nurses in hospitals and health centers to be able to use secondary prevention as one strategy in increasing the motivation of clients to control blood pressure.</em></p><p><strong><em>Keywords: motivation, secondary prevention, blood pressure</em></strong></p>


Author(s):  
Manouchehr Mazdapour ◽  
Mahmood DehghaniAshkezari ◽  
SeyedMorteza Seifati

Introduction: Recurrent spontaneous abortion is defined as the occurrence of more than two clinical miscarriages in one woman. Several factors, including endocrine irregularities, genetics and environmental factors, are involved in this kind of infertility.The aim of this study was to survey the association of HOXA10 (rs267601473) polymorphism with the risk of recurrent spontaneous abortion in our population. Methods: In the present case-control study, the HOXA10 (rs267601473) polymorphism was investigated in 70 infertile woman and 100 healthy participants using PCR-RFLP methods. Then, the data were analyzed by SPSS software version 18 and also were compared using Chi-square test and Logistic regression model. The p-value was found to be statistically significant (p<0.05). Results: Our results showed significant association between the HOXA10 (rs267601473) polymorphism and recurrent spontaneous abortion (OR=0.143, 95% CI=0.056-0.368; p<0.0001). Our findings showed that T allele frequency in women with recurrent spontaneous abortion had significant difference compared to the control group (OR=0.2, 95% CI=0.11-0.4; p<0.0001). Conclusion: The results of this study reveal that the HOXA10 (rs267601473) polymorphism is significantly associated with recurrent spontaneous abortion in our population.


Author(s):  
Mazhar Salim Al Zoubi

Intervertebral disc degeneration (IDD) is a musculoskeletal disorder and one of the major causes of low back pain leading to the disability with high economic repercussions worldwide. This study applied the candidate-gene approach to investigate the potential association of selected polymorphisms with IDD development in a Jordanian population. MRI-diagnosed IDD patients (N=155) and asymptomatic individuals as a control group (N=55). Whole blood samples for four variants in three genes (rs1800587 of IL-1α, rs1143634 of IL-1b and rs2228570 and rs731236 of VDR) were genotyped by PCR-RFLP. There was no significant association between the studied polymorphisms or their allelic frequency and the occurrence of IDD. However, the cohort presented a significant reverse association between rs1143634 C>T of the IL-1β gene and the occurrence of IDD (p< 0.0001). In addition; BMI showed a significant association with the IDD in the study population (p< 0.005). The current study was conceptualized based on the candidate-gene approach to investigate the role of inflammatory and metabolic genes, IL and VDR respectively, in the occurrence of IDD. While data presented in this study showed that polymorphisms in these genes were not associated with IDD of the cohort investigated, elevated BMI, as a measure of obesity strongly associated with IDD. Investigating potential roles of other structural genes, such as col-IX and aggrecan (ACAN), in IDD and considering a GWAS to elucidate a genomically global look at the basis of IDD development would be of considerable impact on our understanding of IDD.


2017 ◽  
Vol 24 (05) ◽  
pp. 733-738
Author(s):  
Hamid Raza ◽  
Bashir Ahmed ◽  
Kamlaish -

Objectives: The aim of our study to determine the use of intrathecal betamethasoneadministration as effective post-operative analgesic in gynecologic procedures. Study Design:Randomized control trial. Period: 6 months duration from April 2015 to end of September 2015.Setting: Tertiary Care Centre in Karachi, Pakistan. Method: The study population consisted ofn= 120 (divided into three groups using a random number generator) patients, who presentedto our setup either via emergency or through the outpatient. The patients belonged to ASAclass I and II, and underwent cesarean section. The group A was the control group, patientswho received 0.5ml normal saline IV with bupivacaine 0.5% in 3ml, with 0.5ml of normal salineintrathecally. Group B consisted of patients who received 0.5ml IV normal saline, with 0.5%in 3ml bupivacaine along with 0.5ml betamethasone as 4mg per ml. The last group, groupC consists of patients who received 0.5ml betamethasone IV (4ml/ml) along with 0.5% 3mlbupivacaine with 0.5ml of normal saline intrathecally. For the subjective measurement of painlevel a visual analog scale was used. Various time intervals as time of initial first analgesic effect,time between intrathecal injection and first administration of diclofenac as rescue analgesicand the total number of analgesics used in the first twenty four hour period were also recordedin the proforma. Various side effects such as nausea, vomiting and headache were noted.Data was analyzed using SPSS version 23. Results: The study population consisted of n=120 patients, divided into three groups using a random number generator, the demographicdata like age, whether the procedure performed was elective or emergency etc did not showany difference p value of >0.05. The Visual analog scales scores at the 4 hour and 6 hourmark showed statistically significant difference, the values being lower in the medication groupsversus the control group. But no difference was found between the control and medicationgroups in the VAS score measured at 12 hour and 24 hours respectively. The requirement foruse of Diclofenac as rescue analgesia was also lower in the intrathecal and intravenous (groupB and C) as compared to the control group at the 24 hour mark post operatively, and thedose required was even lower in the intrathecal group as compared to the intravenous grouphaving a p value of 0.014. N= 27 patients suffered nausea and vomiting during the procedure,N= 40 patients reported headache following the 24 hour period post operatively. Conclusion:According to the results of our study intrathecal betamethasone administration is an effectivemethod of post-operative pain reduction in cesarean section surgeries and it also decreases theneed for rescue analgesia required.


2021 ◽  
Vol 30 (3) ◽  
pp. 37-42
Author(s):  
Abdelhakim F. Ghallab ◽  
Rasha A. El sayed ◽  
Mostafa G. Sobhy

Background: Allergic rhinitis is atopic disorder, 10% to 25% of the population worldwide are suffering from it, The prevalence is increasing during the last 10 years. Objectives: To study the relationship among polymorphism of single nucleotide in TLR2 and TLR4 genes and the risk of allergic rhinitis disease. Methodology: This study was done on 60 patients suffering from allergic rhinitis and 30 healthy subjects as a control group from April 2019 to March 2020. The patients were collected from Otorhinolaryngology Department of Benha University Hospital. Test of Skin prick (SPT) was done to assess atopic state. Blood samples were collected to detect TLR gene polymorphism by Polymerase chain reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). Results: The genotypic frequencies of TLR2 Arg753Gln showed increased frequency of the homozygous (GG) genotype among the controls (80%) more than the allergic rhinitis patients (30%). The heterozygous (AG) genotype was increased among the allergic rhinitis patients (62.5%) more than in the healthy group (15%) with OR =9.4, 95% CI (2.4-37.7) and significant P-value. Also, the homozygous mutant (AA) genotype has more trend in the patients (7.5%) than in the control subjects (5%), with OR = 0. 6, 95% CI (0.1-6.7) and non-significant P-value. The genotypic frequencies Statistical data in TLR4 Asp299Gly revealed that the homozygous (AA) genotype has more frequency in the controls (70%) than the allergic rhinitis patients (20%). The heterozygous (AG) genotype was more prevalent among the allergic rhinitis patients (65%) than the controls (30%) with OR =4.3, 95% CI (1.4-13.8) and significant P-value. Conclusion: GG genotype of TLR2 and AA genotype of TLR4 are least affected by allergic rhinitis disease and the major allele in both gene is protective against the disease.


Author(s):  
Gabriel Neto Oliveira ◽  
Olavo Magalhães Picanço Jr ◽  
Artemis Socorro do N. Rodrigues

The objective of this study was to examine the association between the XRCC1 A910G polymorphism in gastric cancer patients in the city of Macapá, State of Amapá, Amazonia, Brazil.  DNA samples were obtained from 102 individuals, of which 40 were cancer patients and 62 controls. Polymerase Chain Reaction (PCR) was carried out to detect polymorphism, followed by PCR-RFLP analysis with the restriction enzyme HhaI. Of the 40 patients analysed, 22.5% had the Thr910Thr (A/A) genotype, while Ala910Ala (G/G) and Thr910Ala (A/G) genotypes accounted for 25% and 52.5% of samples, respectively. In the control group, of the 62 samples analysed, 74.1% had the Thr910Thr (A/A) genotype, while Ala910Ala (G/G) and Thr910Ala (A/G) represented 9.6% and 16.1% of samples, respectively. Our findings demonstrate that A910G polymorphism was found in most of the patients with gastric cancer in the study population. The G allele was frequently found in the analysed samples, as also observed in the genotype frequency, where AG and GG genotypes were present in cancer patients. This is the first study in Brazil to report the association between A910G polymorphism and gastric cancer.


Author(s):  
Dr. Mukesh Batra

Background: Leukoderma is an acquired disease of pigmentation which is presented by depigmented areas of different shape and sizes on the skin. In various researches it was reported that these defects in melanocytes occurred due to autoimmune pathway or the complex causation of oxidative stress and genetics. Material & Methods: In the present cross‑sectional prospective study 100 patients who were diagnosed with Leukoderma and controls who were not having depigmentation of skin and without any known clinical disease were enrolled for present study by simple random sampling. Written informed consent was taken from each study participant. Clearance from institutional ethical committee was also taken prior to the study. Results: The prevalence of psychiatric illness among leukoderma group was 22% and among 78% patients we did not found any psychiatric illness. The most common symptom was depression which was present among 22% of patients with Leukoderma and 18% patients with Leukoderma had anxiety symptoms. Among the control group depression was present in 5 % subjects and anxiety symptoms were present in 7% of subjects. The mean WHO-Quality of life scores was low among Leukoderma group in relation to the control group (p value <0.05). On correlation with psychiatric illness, observations were statistically non-significant (p > 0.05) with HAMA-A and HAMA- D. The observations were statistically significant (p < 0.05) with GHQ total and BSA score. Conclusion:  Higher prevalence of psychitric morbidity among patients with leukoderma and it was found associated with duration of disease and BSA scores. The most common symptom was depression which was followed by anxiety symptoms. Key words: Leukoderma, psychiatric illness, anxiety, depression.


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