scholarly journals Γενετική μελέτη σε γονίδια που σχετίζονται με την έκβαση ασθενών με κρανιοεγκεφαλική κάκωση

2017 ◽  
Author(s):  
Γεώργιος Χατζηγεωργίου

Εισαγωγή: Η Κρανιοεγκεφαλική Κάκωση (ΚΕΚ) αποτελεί μια από τις σημαντικότερες αιτίες νοσηρότητας και θνητότητας στο σύγχρονο κόσμο, αποτελώντας το κύριο αίτιο θανάτου στα νέα άτομα. Εκτιμάται ότι παρά τις σύγχρονες εξελίξεις στην αντιμετώπιση της ΚΕΚ, περίπου οι μισοί ασθενείς με βαριά ΚΕΚ θα έχουν δυσμενή έκβαση. Πρόσφατες μελέτες στη διεθνή βιβλιογραφία υποστηρίζουν ότι ποικίλοι γενετικοί παράγοντες διαδραματίζουν σημαντικό ρόλο στην έκβαση διαφόρων διαταραχών του ΚΝΣ, συμπεριλαμβανομένης και της ΚΕΚ. Οι μελέτες γενετικής συσχέτισης αποτελούν σημαντικό εργαλείο στην προσπάθεια ανάδειξης σύνδεσης συγκεκριμένων γενετικών πολυμορφισμών και της έκβασης της νόσου. Στην παρούσα μελέτη διερευνήσαμε τον ρόλο της Ακουοπορίνης-4 (AQP4) και του Μετατρεπτικού Ενζύμου της Αγγειοτενσίνης (ACE) σχετικά με την έκβαση των ασθενών μετά από ΚΕΚ. Ειδικότερα, μελετήθηκαν οι πολυμορφισμοί της AQP4: rs335929, rs3763043, rs11661256, rs335931, rs3763040, rs4800773, rs3875089, όπως και οι ακόλουθοι του ACE: rs4343, rs4461142, rs7221780, rs8066276, rs8066114.Μέθοδος: Στη μελέτη συλλέχθηκαν προοπτικά 363 ασθενείς με ΚΕΚ (άνδρες: 292 – γυναίκες: 71). Η αρχική νευρολογική εικόνα και η έκβαση 6 μήνες μετά την ΚΕΚ εκτιμήθηκαν με βάση την Κλίμακα Κώματος Γλασκώβης και την Κλίμακα Έκβασης Γλασκώβης αντιστοίχως. Καταγράφηκαν λεπτομερώς και ταξινομήθηκαν τα δημογραφικά και κλινικά στοιχεία των ασθενών, όπως και τα ευρήματα του νευροαπεικονιστικού ελέγχου. Οι ασθενείς συμπεριλαμβάνονταν στη μελέτη εφόσον είχαν υποστεί αμβλύ τραυματισμό κεφαλής, ήταν ελληνικής καταγωγής και ηλικίας άνω των 18 ετών. Η απομόνωση γενωμικού DNΑ από πυρήνες λευκοκυττάρων έγινε με τη μέθοδο της εξαλάτωσης, ενώ η ταυτοποίηση των γονοτύπων των πολυμορφισμών έγινε με γνωστές PCR/RFLP μεθόδους. Η ισορροπία Hardy-Weinberg εξετάσθηκε με τη χρήση του Fisher exact test. Η αξιολόγηση της ισχύος της μελέτης έγινε με τη χρήση του προγράμματος Quanto. Έγινε χαρτογράφηση της ανισορροπίας σύνδεσης και σύγκριση των απλοτύπων με βάση μεθόδους εκτίμησης της μεγίστης πιθανοφάνειας. Λόγω πολλαπλών συγκρίσεων εφαρμόστηκε η διόρθωση κατά Bonferroni. Στατιστικά σημαντικά θεωρήθηκαν τα αποτελέσματα με p=0.05 διαιρούμενα με τον αριθμό των μελετώμενων μεταβλητών.Αποτελέσματα: Σχετικά με τους πολυμορφισμούς της AQP4, σημαντική συσχέτιση με την έκβαση μετά από ΚΕΚ ανιχνεύθηκε για τις ακόλουθες ετικέτες SNPs: rs3763043 (OR [95% CI]: 5.15 [1.60–16.5], p = 0.006), rs3875089 (OR [95% CI]: 0.18 [0.07–0.50] p = 0.0009), και SNPs του κοινού απλοτύπου της AQP4 (OR [95% CI]: 2.94, [1.34–6.36], p = 0.0065). Οι ετικέτες SNPs της AQP4 δεν φάνηκαν να επηρεάζουν την αρχική βαρύτητα της ΚΕΚ ή την παρουσία ενδοκρανιακής αιμορραγίας.Όσον αφορά τους πολυμορφισμούς της ACE, σημαντική επίδραση σχετικά με την έκβαση μετά από ΚΕΚ ανιχνεύθηκε για τις ακόλουθες γειτονικές ετικέτες: rs4461142 (OR: 0.26, 95% CI 0.12–0.57, P=0.0001), rs7221780 (OR 2.67, 95% CI 1.25–5.72, P=0.0003) και rs8066276 (OR 3.82, 95% CI 1.80–8.13, P=0.0002). Συμπεράσματα: Η παρούσα μελέτη παρέχει ενδείξεις για πιθανή συμμετοχή γενετικών παραλλαγών της AQP4 και της ACE στην λειτουργική έκβαση των ασθενών με ΚΕΚ. Η συσχέτιση αυτή παρουσιάζει ιδιαίτερο επιστημονικό ενδιαφέρον, καθότι τα γονίδια αυτά μπορούν να αποτελέσουν πιθανούς θεραπευτικούς στόχους σε ασθενείς με ΚΕΚ, για την πρόληψη και τη θεραπεία του εγκεφαλικού οιδήματος. Μελλοντικά οι εξελίξεις στον τομέα αυτό αναμένεται να έχουν σημαντική επίδραση στη θεραπεία των ασθενών με ΚΕΚ και να επηρεάζουν ευνοϊκά την τελική τους έκβαση μέσω γενετικά καθοδηγούμενων θεραπειών.

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Anil Kumar Verma ◽  
Vineet Ahuja ◽  
Jaishree Paul

Host genetic susceptibility is an important risk factor in infectious diseases. We explored the distribution of Q223R mutation in leptin receptor gene of amoebic liver abscess (ALA) patients of North India. A total of 55 ALA samples along with 102 controls were subjected to PCR-RFLP analysis. The frequency of allele “G” (coding for arginine) was in general high in Indian population irrespective of the disease. Our results of Fisher exact test shows that heterozygous mutant (QQ versus QR,P=0.049) and homozygous mutant (QQ versus RR,P=0.004) were significantly associated with amoebic liver abscess when compared with homozygous wild (QQ).


1993 ◽  
Vol 70 (03) ◽  
pp. 393-396 ◽  
Author(s):  
Mandeep S Dhami ◽  
Robert D Bona ◽  
John A Calogero ◽  
Richard M Hellman

SummaryA retrospective study was done to determine the incidence of and the risk factors predisposing to clinical venous thromboembolism (VTE) in patients treated for high grade gliomas. Medical records of 68 consecutive patients diagnosed and treated at Saint Francis Hospital and Medical Center from January 1986 to June 1991 were reviewed. The follow up was to time of death or at least 6 months (up to December 1991). All clinically suspected episodes of VTE were confirmed by objective tests. Sixteen episodes of VTE were detected in 13 patients for an overall episode rate of 23.5%. Administration of chemotherapy (p = 0.027, two tailed Fisher exact test) and presence of paresis (p = 0.031, two tailed Fisher exact test) were statistically significant risk factors for the development of VTE. Thrombotic events were more likely to occur in the paretic limb and this difference was statistically significant (p = 0.00049, chi square test, with Yates correction). No major bleeding complications were seen in the nine episodes treated with long term anticoagulation.We conclude that venous thromboembolic complications are frequently encountered in patients being treated for high grade gliomas and the presence of paresis and the administration of chemotherapy increases the risk of such complications.


2020 ◽  
Vol 41 (3) ◽  
pp. 192-197
Author(s):  
Sherry S. Zhou ◽  
Alan P. Baptist

Background: There has been a striking increase in electronic cigarette (EC) use in the United States. The beliefs and practices toward ECs among physicians are unknown. Objective: The purpose of this study was to investigate EC practice patterns among allergists, pulmonologists, and primary care physicians. Methods: An anonymous survey was sent to physicians. The survey contained 32 questions and addressed issues related to demographics, cessation counseling behaviors, personal use, and knowledge and beliefs about ECs. Statistical analysis was performed by using analysis of variance, the Pearson χ2 test, Fisher exact test, and logistic regression. Results: A total of 291 physicians completed the survey (222 primary care physicians, 33 pulmonologists, and 36 allergists) for a response rate of 46%. The allergists asked about tobacco cigarette use as frequently as did the pulmonologists and more than the primary care physicians (p < 0.001), but they rarely asked about EC use. The pulmonologists scored highest on self-reported knowledge on ECs, although all the groups answered <40% of the questions correctly. The allergists did not feel as comfortable about providing EC cessation counseling as did the pulmonologists and primary care physicians (p < 0.001). All three groups were equally unlikely to recommend ECs as a cessation tool for tobacco cigarette users. Conclusion: Allergists lacked knowledge and confidence in providing education and cessation counseling for EC users. As the number of patients who use these products continues to increase, there is an urgent need for all physicians to be comfortable and knowledgeable with counseling about ECs.


2018 ◽  
Vol 1 (2) ◽  
pp. 166
Author(s):  
Sutriswanto Sutriswanto ◽  
Sugito Sugito

Abstract: Staphylococcus is a cause of infection. Infection can be transmitted from a source by an indirect through fomite. Paper money can act as transmission of infectious agents, money acts as a fomite. Smaller denominations of value have higher contamination. This study aims to analyze differences in contamination bacterial Staphylococcus sp on denomination of paper money Rp.2.000, 5.000, Rp.10,000 and Rp.20.000 that currently shop on Adi Sucipto street town Pontianak. The research method used in this research is in the form of difference and the sample in this research is denomination of paper money curently with sampling technique using cluster sampling. Checkup of Staphylococcus spon denomination of paper money using rinse method. On these result of study, denomination of paper money Rp.2.000 that is contaminated staphylococcus sp is 80%, denomination of paper money Rp.5.000 that is contaminated staphylococcus sp is 70%, denomination of paper money Rp.10.000 and Rp.20.000 that is contaminated staphylococcus sp is 80%. The data from result of study has been obtained were analyzed statistically by using fisher exact test, the result of p (0,477) >α (0,05) which mean as H1 is rejected. So it can be concluded there is no difference of contamination bacteria staphylococcus sp on denominations of paper money rupiah.Abstrak: Staphylococcus merupakan penyebab terjadinya infeksi. Infeksi dapat ditularkan dari suatu sumber dengan mekanisme tidak langsung melalui fomite. Uang kertas dapat bertindak sebagai transmisi agens infeksius ,uang berperan sebagai fomite. Pecahan uang yang lebih kecil nilainya memiliki kontaminasi yang lebih tinggi. Penelitian ini bertujuan untuk menganalisis perbedaan cemaran bakteri Staphylococcus sp pada pecahan uang kertas Rp.2.000, 5.000, Rp.10.000 dan Rp.20.000 yang beredar di warung jalan Adi Sucipto kota Pontianak. Metode penelitian yang digunakan dalam penelitian berbentuk komperatif dan sampel pada penelitian ini adalah pecahan uang kertas rupiah dengan.teknik pengambilan sampel menggunakan purposive sampling. Pemeriksaan Staphylococcus sp pada pecahan uang kertas rupiah menggunakan metode rinse. Pada hasil penelitian pecahan uang kertas Rp.2.000 yang tercemar staphylococcus sp adalah 80%, pecahan uang kertas Rp.5.000 yang tercemar staphylococcus spadalah 70%, pecahan uang kertas Rp.10.000 dan Rp.20.000 yang tercemar staphylococcus spadalah 50%. Berdasarkan data dari hasil penelitian yang telah didapat dianalisis menggunakan uji statistik fisher exact, didapatkan hasil p (0,477) >α (0,05) yang diartikan sebagai H1 ditolak. Sehingga dapat disimpulkan tidak ada perbedaan cemaran bakteri staphylococcus sp pada pecahan uang kertas rupiah.


2009 ◽  
Vol 95 (1) ◽  
pp. 6-12
Author(s):  
Kusuma Madamala ◽  
Claudia R. Campbell ◽  
Edbert B. Hsu ◽  
Yu-Hsiang Hsieh ◽  
James James

ABSTRACT Introduction: On Aug. 29, 2005, Hurricane Katrina made landfall along the Gulf Coast of the United States, resulting in the evacuation of more than 1.5 million people, including nearly 6000 physicians. This article examines the relocation patterns of physicians following the storm, determines the impact that the disaster had on their lives and practices, and identifies lessons learned. Methods: An Internet-based survey was conducted among licensed physicians reporting addresses within Federal Emergency Management Agency-designated disaster zones in Louisiana and Mississippi. Descriptive data analysis was used to describe respondent characteristics. Multivariate logistic regression was performed to identify the factors associated with physician nonreturn to original practice. For those remaining relocated out of state, bivariate analysis with x2 or Fisher exact test was used to determine factors associated with plans to return to original practice. Results: A total of 312 eligible responses were collected. Among disaster zone respondents, 85.6 percent lived in Louisiana and 14.4 percent resided in Mississippi before the hurricane struck. By spring 2006, 75.6 percent (n = 236) of the respondents had returned to their original homes, whereas 24.4 percent (n = 76) remained displaced. Factors associated with nonreturn to original employment included family or general medicine practice (OR 0.42, 95 percent CI 0.17–1.04; P = .059) and severe or complete damage to the workplace (OR 0.24, 95 percent CI 0.13–0.42; P &lt; .001). Conclusions: A sizeable proportion of physicians remain displaced after Hurricane Katrina, along with a lasting decrease in the number of physicians serving in the areas affected by the disaster. Programs designed to address identified physician needs in the aftermath of the storm may give confidence to displaced physicians to return.


2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
Y Krasko ◽  
J Marianowska ◽  
M Duplaga

Abstract Background According to recent projections, even 10% of Polish gross domestic product is contributed by Ukrainian immigrants. There is also a considerable number of Ukrainians continuing university education in Poland. The level of health literacy in Ukrainian society has not been studied so far. The aim of the study was the comparison of health literacy (HL) and e-health literacy (eHL) of young adult Ukrainian (UA) women with their Polish (PL) counterparts Methods A snowball technique was used to recruit a sample of UA women working or studying in Poland to the Internet-based survey. The questionnaire used in the study consisted of the 16-item European HL Survey questionnaire (HLS-EU-16), eHealth Literacy Scale (eHEALS), the set of the questions asking about health behaviours (HB), self-assessment of health status (HS) and items exploring sociodemographic variables. For comparison, the data of an age-matched sample of 100 respondents was extracted from the online survey performed in a representative sample of PL women. Results The mean age (standard deviation, SD) of 57 UA respondents was 20.23 (1.78) years and in Polish sample 20.25 (1.79). HL did not differ between both groups (11.06 (4.22) vs 11.44 (4.34), respectively, p = 0.53), but eHL was significantly lower in UA group (25.91 (5.36) vs 28.17 (5.37), U Mann-Whitney test, p = 0.01). Only 58.5% of UA respondents vs 80.5% of PL ones assessed their HS as at least good (Fisher exact test, p &lt; 0.001). The rates of active smoking (34.6% vs. 35.0%, p = 0.55), using e-cigarettes (35.3% vs 34.0%, p = 0.99), frequent alcohol consumption (26.9% vs. 20%, p = 0.41), and intensive physical activity (49.0% vs. 38.0%, p = 0.22) did not differ between study groups. Conclusions Young UA women show lower eHL than PL counterparts. Although HL and HB in both groups did not differ significantly, UA respondents have assessed their HS much lower than PL participants. Key messages E-health literacy and self-assessed health status were significantly lower among young Ukrainian than among Polish women. Both groups did not differ for health literacy and health behaviours.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1039.2-1040
Author(s):  
N. Dostanko ◽  
V. Yagur ◽  
R. Goncharova ◽  
E. Siniauskaya ◽  
T. Zybalova

Background:Systemic lupus erythematosus (SLE) has a significant genetic predisposition. Many genetic variants of susceptibility to SLE have been published and analyzed, but the clinical and functional significance of the various genotypes has not yet been clearly defined [1].Objectives:To estimate the association between some of non-HLA gene polymorphisms such as STAT4 rs7574865, RUNX1 rs9979383, IL6 rs1800795, IL6R rs2228145, IL6R rs4845618 and susceptibility to SLE in Belarusian population as well as some disease manifestations.Methods:We examined 383 healthy blood donors and 54 SLE patients (18-72 years old, median age 35) classified according to the 1997 American College of Rheumatology (ACR) revised classification criteria [2]. Deoxyribonucleic acid was extracted from peripheral blood samples by phenol-chloroform method. Genotyping was performed by real-time PCR with fluorescent probes. Differences of distribution of all the single nucleotide polymorphism (SNP) genotypes and their associations with secondary antiphospholipid syndrom (APS) and lupus arthritis were analyzed using Pearson χ2 (χ2) and two-way Fisher exact test (F, p2-t). Diagnostic odds ratio (dOR), likelihood ratio of positive (LR +) and negative (LR –) tests and corresponding 95% confidence intervals (CI) were also calculated.Results:We revealed significant difference in STAT4 rs7574865 genotypes in SLE patients and healthy donors (χ2=8,27, р=0,016) with significant increase of ТТ genotype frequency in SLE patients vs healthy donors (χ2=6.83 p=0.009; p2-t =0.020; dOR=3.78 (CI95% 1.36-10.55); LR+ =3.44 (CI95% 1.35-8.71); LR– =0.91 (CI95% 0.83-0.98)). Lupus arthritis was more common in risk TT-genotype SLE carriers than in other SLE patients (χ2=5.902 p=0.015; p2-t =0.027).We revealed significant increase of СТ genotype (RUNX1 rs9979383) in healthy donors vs SLE patients (χ2=4.14; p=0.042; dOR=0.53 (CI95% 0.29-0.98); LR+ =0.69 (CI95% 0.45-0.99); LR– =1.3 (CI95% 1.01-1,56)). Lupus arthritis was more common in SLE СТ-genotype carriers than in other SLE patients (χ2=4.66 p=0.031; p2-t =0.058).Significant differences in IL6 rs1800795, IL6R rs2228145 and IL6R rs4845618 genotypes distribution between studied groups were not found (χ2, p=0.427, p=0.559 and p=0.407, correspondingly) but GG-genotype (IL6 rs1800795) carriership in SLE patients was associated with increased APS frequency (χ2=4.45, p=0.035; dOR=0.19 (CI95% 0.04-0.9); LR+ =0.28 (CI95% 0.07-0.93); LR– =1.41 (CI95% 1.03-1.64).Conclusion:Our data suggest the susceptibility to SLE in ТТ genotype of STAT4 rs7574865 polymorphism, protective role of СТ genotype of RUNX1 rs9979383 for SLE and association between GG-genotype of IL6 rs1800795 and APS in SLE patients in Belarusian population. Lupus arthritis was associated with ТТ genotype of STAT4 rs7574865 and СТ genotype of RUNX1 rs9979383.References:[1]Chen L, Morris DL, Vyse TJ. Genetic advances in systemic lupus erythematosus: an update. Curr Opin Rheumatol 2017;29:423–33.[2]Hochberg MC. Updating the American College of Rheumatology Revised Criteria for the classification of Systemic Lupus Erythematosus. Arthritis Rheum 1997;40:1725.Disclosure of Interests:None declared


2021 ◽  
pp. 175342592110299
Author(s):  
Alexander Varzari ◽  
Igor V. Deyneko ◽  
Elena Tudor ◽  
Harald Grallert ◽  
Thomas Illig

Polymorphisms in genes that control immune function and regulation may influence susceptibility to pulmonary tuberculosis (TB). In this study, 14 polymorphisms in 12 key genes involved in the immune response ( VDR, MR1, TLR1, TLR2, TLR10, SLC11A1, IL1B, IL10, IFNG, TNF, IRAK1, and FOXP3) were tested for their association with pulmonary TB in 271 patients with TB and 251 community-matched controls from the Republic of Moldova. In addition, gene–gene interactions involved in TB susceptibility were analyzed for a total of 43 genetic loci. Single nucleotide polymorphism (SNP) analysis revealed a nominal association between TNF rs1800629 and pulmonary TB (Fisher exact test P = 0.01843). In the pairwise interaction analysis, the combination of the genotypes TLR6 rs5743810 GA and TLR10 rs11096957 GT was significantly associated with an increased genetic risk of pulmonary TB (OR = 2.48, 95% CI = 1.62–3.85; Fisher exact test P value = 1.5 × 10−5, significant after Bonferroni correction). In conclusion, the TLR6 rs5743810 and TLR10 rs11096957 two-locus interaction confers a significantly higher risk for pulmonary TB; due to its high frequency in the population, this SNP combination may serve as a novel biomarker for predicting TB susceptibility.


2002 ◽  
Vol 82 (7) ◽  
pp. 670-681 ◽  
Author(s):  
Anne Shumway-Cook ◽  
Aftab E Patla ◽  
Anita Stewart ◽  
Luigi Ferrucci ◽  
Marcia A Ciol ◽  
...  

Abstract Background and Purpose. In this study, the influence of 8 dimensions of the physical environment on mobility in older adults with and without mobility disability was measured. This was done in order to identify environmental factors that contribute to mobility disability. Subjects. Subjects were 36 older adults (≥70 years of age) who were recruited from 2 geographic sites (Seattle, Wash, and Waterloo, Ontario, Canada) and were grouped according to level of mobility function (physically able [ability to walk ½ mile (0.8 km) or climb stairs without assistance], physically disabled). Methods. Subjects were observed and videotaped during 3 trips into the community (trip to grocery store, physician visit, recreational trip). Frequency of encounters with environmental features within each of the 8 dimensions was recorded. Differences in baseline characteristics and environmental encounters were analyzed using an analysis of variance or the Fisher exact test, as appropriate. Results. Mobility disability among older adults was not associated with a uniform decrease in encounters with environmental challenges across all dimensions. Environmental dimensions that differed between subjects who were physically able and those with physical disability included temporal factors, physical load, terrain, and postural transition. Dimensions that were not different included distance, density, ambient conditions (eg, light levels and weather conditions), and attentional demands. Discussion and Conclusion. Understanding the relationship of the environment to mobility is crucial to both prevention and rehabilitation of mobility disability in older adults. Among older adults, certain dimensions of the environment may disable community mobility more than others.


Author(s):  
Laima Alam

Objectives:Relation of demographics of hepatocellular-carcinoma with the aetiology.Tumour characteristics in relation to anti-viral therapy and presence of viral-DNA/RNATreatment modalities offeredMethods: This cross-sectional study enrolled all the patients aged 18-70 years with diagnosed hepatocellular carcinoma either through Triphasic Contrast-Enhanced-CT scan and/or Magnetic Resonance Imaging or biopsy presenting to the Outpatient-Department or multi-disciplinary-team meetings for the year 2019. Demographic variables, biochemical analysis including liver profile and stage of cirrhosis, viral-status, tumour staging and the treatment modalities offered were all noted. ANOVA (normal) and Kruskal-Wallis (non-normal) tests were used to compare quantitative data whereas chi-square-test and fisher-exact-test were used to compare qualitative-data.Results: Out of 195 patients with hepatocellular carcinoma, 76% were males in their fifth to sixth decades of life, 96% had cirrhosis, 94% corresponded to viral hepatocellular-carcinoma (82% Hepatitis-C-Virus, 9% Hepatitis-B-Virus and 3% coinfection), 60% of the cirrhotics landed in Child-Pugh A category with tumour staging BCLC-B being the predominant one (43.6%) and single and multiple bilateral nodules were the commonest lesions encountered. Platelets and Alanine-Transaminase had a significant relation across aetiological groups. Lymph-nodes were the most common extra-hepatic organs for metastasis and the presence of viral PCR had a significant impact on the tumour aggressiveness. Thirty-two percent of the patients were amenable to curative treatment.Conclusion: Viral infection is the main cause of rising prevalence of this tumour in Pakistan. Treatment modalities are expensive and expertise are lacking. A nationwide cancer registry is required for the exact disease burden and tumour behaviour for our population. Continuous....


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