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1.
Brain ; 147(4): 1436-1456, 2024 Apr 04.
Article in English | MEDLINE | ID: mdl-37951597

ABSTRACT

The acyl-CoA-binding domain-containing protein 6 (ACBD6) is ubiquitously expressed, plays a role in the acylation of lipids and proteins and regulates the N-myristoylation of proteins via N-myristoyltransferase enzymes (NMTs). However, its precise function in cells is still unclear, as is the consequence of ACBD6 defects on human pathophysiology. Using exome sequencing and extensive international data sharing efforts, we identified 45 affected individuals from 28 unrelated families (consanguinity 93%) with bi-allelic pathogenic, predominantly loss-of-function (18/20) variants in ACBD6. We generated zebrafish and Xenopus tropicalis acbd6 knockouts by CRISPR/Cas9 and characterized the role of ACBD6 on protein N-myristoylation with myristic acid alkyne (YnMyr) chemical proteomics in the model organisms and human cells, with the latter also being subjected further to ACBD6 peroxisomal localization studies. The affected individuals (23 males and 22 females), aged 1-50 years, typically present with a complex and progressive disease involving moderate-to-severe global developmental delay/intellectual disability (100%) with significant expressive language impairment (98%), movement disorders (97%), facial dysmorphism (95%) and mild cerebellar ataxia (85%) associated with gait impairment (94%), limb spasticity/hypertonia (76%), oculomotor (71%) and behavioural abnormalities (65%), overweight (59%), microcephaly (39%) and epilepsy (33%). The most conspicuous and common movement disorder was dystonia (94%), frequently leading to early-onset progressive postural deformities (97%), limb dystonia (55%) and cervical dystonia (31%). A jerky tremor in the upper limbs (63%), a mild head tremor (59%), parkinsonism/hypokinesia developing with advancing age (32%) and simple motor and vocal tics were among other frequent movement disorders. Midline brain malformations including corpus callosum abnormalities (70%), hypoplasia/agenesis of the anterior commissure (66%), short midbrain and small inferior cerebellar vermis (38% each) as well as hypertrophy of the clava (24%) were common neuroimaging findings. Acbd6-deficient zebrafish and Xenopus models effectively recapitulated many clinical phenotypes reported in patients including movement disorders, progressive neuromotor impairment, seizures, microcephaly, craniofacial dysmorphism and midbrain defects accompanied by developmental delay with increased mortality over time. Unlike ACBD5, ACBD6 did not show a peroxisomal localization and ACBD6-deficiency was not associated with altered peroxisomal parameters in patient fibroblasts. Significant differences in YnMyr-labelling were observed for 68 co- and 18 post-translationally N-myristoylated proteins in patient-derived fibroblasts. N-myristoylation was similarly affected in acbd6-deficient zebrafish and X. tropicalis models, including Fus, Marcks and Chchd-related proteins implicated in neurological diseases. The present study provides evidence that bi-allelic pathogenic variants in ACBD6 lead to a distinct neurodevelopmental syndrome accompanied by complex and progressive cognitive and movement disorders.


Subject(s)
Intellectual Disability , Microcephaly , Movement Disorders , Nervous System Malformations , Neurodevelopmental Disorders , Animals , Female , Humans , Male , ATP-Binding Cassette Transporters , Intellectual Disability/genetics , Movement Disorders/genetics , Nervous System Malformations/genetics , Neurodevelopmental Disorders/genetics , Tremor , Zebrafish , Infant , Child, Preschool , Child , Adolescent , Young Adult , Adult , Middle Aged
2.
Curr Cancer Rep ; 3(1): 124-127, 2021 Nov 01.
Article in English | MEDLINE | ID: mdl-34825193

ABSTRACT

BACKGROUND: Quitting smoking improves cancer survival and improves symptoms of cancer and its treatment. Cancer diagnosis presents a powerful motivation for leading a healthier lifestyle and embracing behavioral changes, such as quitting smoking. Many smokers quit after a cancer diagnosis, but some survivors continue to smoke. This study examined the characteristics associated with being a former rather than a current smoker among women treated for breast cancer. METHODS: In this pilot, cross-sectional study, data were collected via postal surveys in women who had a history of smoking and breast cancer (N = 69). Descriptive and logistic regression analyses were conducted to identify factors associated with smoking status. RESULTS: Of this sample, 13 were current smokers and 56 were former smokers. Age, race, education, and employment status were not associated with smoking status. Women with a higher income were significantly more likely to have successfully quit smoking (former smoking OR = 5.94, p < 0.05). Most women were light smokers and reported intentions to quit. CONCLUSION: The study attests to the addictive nature of smoking and the difficulty in achieving successful quitting even after breast cancer diagnosis. Results highlighted the role of low income as a barrier in smoking cessation. A follow up study is warranted to uncover potential barriers to smoking cessation in order to individualize tobacco treatment to meet the needs of motivated light smoking cancer patients. Intensive innovative tobacco treatment approaches are warranted, to reach successful cessation particularly among cancer patients with lower income.

3.
Article in English | MEDLINE | ID: mdl-34589710

ABSTRACT

BACKGROUND: African Americans have poorer cardiovascular health and higher chronic disease mortality than non-Hispanic whites. The high burden of chronic diseases among African Americans is a primary cause of disparities in life expectancy between African Americans and whites. METHODS: We conducted a cross-sectional study via a postal survey among a sample of 65 male, African American patients aged ≥ 40 years. The overall objective was to examine the frequency of high blood pressure, high cholesterol, diabetes, myocardial infarction, congestive heart failure, stroke, asthma, emphysema, and cancer among patients treated at Augusta University Health. RESULTS: A high percentage of study participants (81.5 %) reported a history of high blood pressure; 50.8% had high cholesterol; 44.3% were overweight, 44.3% were obese, and 13.9% were current cigarette smokers. About 36.9% of the men had a reported history of diabetes; 10.8% of the men had a history of heart attack, 13.9% had a history of congestive heart failure, 9.2% had a history of stroke, and 15.4% had a history of prostate cancer. Men who reported a personal history of prostate cancer were significantly more likely to have a history of heart attack and stroke and to be overweight (p < 0.05 in each instance). DISCUSSION: Additional studies are needed of cardiovascular risk factors and adverse cardiovascular events among African American men, and interventional research aimed at controlling hypertension. Of particular concern is prostate cancer, and whether patients with hypertension, hypercholesterolemia, and diabetes are receiving appropriate therapy to reduce their cardiovascular risk and prevent morbidity and mortality from adverse cardiovascular events.

5.
Addict Behav ; 85: 107-112, 2018 10.
Article in English | MEDLINE | ID: mdl-29886248

ABSTRACT

INTRODUCTION: Similar to cigarette smoking, consumption of cigars delivers nicotine and byproducts of tobacco combustion and elevates the risk of addiction, illness, and premature death. This study examined the relationship of affect, perceived relative harm, and LCC smoking behavior among U.S. adults. METHODS: Data were from Tobacco Products and Risk Perceptions Survey conducted in 2015. The study included a probability based sample of 6051 adults (18+) drawn from an online research panel. A current LCC smoker was defined as having ever smoked LCCs and was currently smoking LCCs every day, somedays, or rarely. Participants were asked whether smoking LCCs was less harmful, had about the same level of harm, or was more harmful than smoking regular cigarettes. Feelings about LCCs were collected using word association technique. Descriptive and multinomial logistic regression analyses were conducted. RESULTS: About 7% of the study participants were current LCC smokers. Adults with positive feelings had four-fold the adjusted odds to be current LCC smokers. Perceiving LCCs to be less harmful had 2.7 higher adjusted odds of being current LCC smokers. CONCLUSIONS: Compared to cigarettes, LCCs evoked more positive feelings among adults and these positive feelings were strongly associated with both perceiving LCCs as less harmful than cigarettes and with current LCC smoking. Cessation and prevention interventions would benefit from applying the principles of social marketing in which information is provided not only to inform consumers but also to evoke negative feelings and associations with LCC smoking.


Subject(s)
Affect , Attitude to Health , Cigar Smoking , Tobacco Products , Adolescent , Adult , Aged , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Odds Ratio , Perception , United States , Young Adult
6.
Nicotine Tob Res ; 20(9): 1055-1061, 2018 08 14.
Article in English | MEDLINE | ID: mdl-28666353

ABSTRACT

Introduction: Flavored little cigars, cigarillos, and filtered cigars (LCCs) are popular and pose unique health risks. This study explored risk perceptions of flavors in LCCs and the relationship between perceptions and use among U.S. adults. Methods: Data were from the 2015 Tobacco Products and Risk Perceptions Survey of a national probability sample of 6051 adults, conducted online, August-September, 2015. The analytic sample consisted of 5105 adults aware of LCCs and 2174 who had ever used any type of LCCs. Results: Just over half of adults reported flavors in LCCs as "very" or "somewhat" risky, while more than one-third of adults reported they did not know the risks of flavors in LCCs. Younger adults, males, and users of any LCCs were more likely than older adults, females and non-users, respectively, to perceive LCC flavors as less risky. Those who perceived LCC flavors as "not at all risky" or "a little risky" were roughly twice as likely to have ever used flavored LCCs compared to those who reported not knowing the risks (AOR = 2.07, 95% CI = 1.16 to 3.69 and AOR = 1.96, 95% CI = 1.26 to 3.06). Those who reported LCC flavors as "very risky" were also more likely to have ever used flavored LCCs than those who reported not knowing the risks (AOR = 1.50, 95% CI = 1.13 to 1.98). Conclusions: Though the proportion of adults assigning low risk to flavors in LCCs is small, these adults are more likely to use flavored LCCs. The association of use with risk perceptions of flavors in LCCs should be addressed in health risk campaigns. Implications: Flavored LCCs are popular, particularly among young adults. While understanding the impact of flavors is an FDA research priority, little is currently known about perceptions of risk associated with flavors in LCCs. This study explores the nature of risk perceptions of flavors in LCCs, and the relationship between perceptions and flavored LCC use. We conclude that perception of risk of flavors in LCCs is related to use of these products, particularly perception of less risk. Considering the relationship between use and risk perceptions would be helpful in constructing health risk messaging.


Subject(s)
Flavoring Agents/adverse effects , Smokers/psychology , Smoking/adverse effects , Smoking/psychology , Surveys and Questionnaires , Tobacco Products/adverse effects , Adolescent , Adult , Aged , Cannabis/adverse effects , Cannabis/chemistry , Cross-Sectional Studies , Female , Flavoring Agents/analysis , Humans , Male , Middle Aged , Risk Factors , Smoking/epidemiology , Nicotiana/adverse effects , Nicotiana/chemistry , United States/epidemiology , Young Adult
7.
Am J Health Behav ; 41(5): 608-617, 2017 Sep 01.
Article in English | MEDLINE | ID: mdl-28760183

ABSTRACT

OBJECTIVES: We aimed to determine whether the prevalence of current use of smokeless tobacco products (STPs) changed during 2014-2016 and examine factors associated with use among adults in the United States (US). METHODS: Data were obtained from Tobacco Products and Risk Perceptions Surveys of probability samples representative of US adults in 2014, 2015, and 2016. Change over time in current (past 30 day) STP use was examined using pairwise comparisons of proportions and multivariable logistic regression. Associated factors were examined using Rao-Scott χ2 and multivariable logistic regression. RESULTS: The prevalence of current STP use was higher in 2015 (3.6%) than in 2014 (2.3%, p < .001) and 2016 (2.7%, p = .018) among US adults. In 2016, current STP use was associated with being male, under age 60, currently using hookah or e-cigarettes, and having less than a college degree. Rates of use did not vary by cigarette smoking status, race/ethnicity, income, or metropolitan statistical area (MSA). CONCLUSIONS: The prevalence of current STP use peaked in 2015. In 2016, current STP use was more prevalent among males and adults with lower education. Continuous monitoring of STP use is needed, particularly non-cigarette tobacco product users.


Subject(s)
Electronic Nicotine Delivery Systems/statistics & numerical data , Smoking/epidemiology , Tobacco Products/statistics & numerical data , Tobacco, Smokeless/statistics & numerical data , Adolescent , Adult , Aged , Aged, 80 and over , Educational Status , Female , Humans , Male , Middle Aged , Prevalence , United States , Young Adult
8.
Am J Prev Med ; 52(3): 331-338, 2017 Mar.
Article in English | MEDLINE | ID: mdl-28341303

ABSTRACT

INTRODUCTION: Although the impact of long-term use of electronic cigarettes (e-cigarettes) on health is still unknown, current scientific evidence indicates that e-cigarettes are less harmful than combustible cigarettes. The study examined whether perceived relative harm of e-cigarettes and perceived addictiveness have changed during 2012-2015 among U.S. adults. METHODS: Data were from Tobacco Products and Risk Perceptions surveys of probability samples representative of U.S. adults in 2012, 2014, and 2015. Changes over time in perceived harmfulness of e-cigarettes were examined using pairwise comparisons of proportions and multinomial logistic regression analysis. Analyses were conducted in January 2016. RESULTS: Whereas 11.5% and 1.3% of adults perceived e-cigarettes to have about the same level of harm and to be more harmful than cigarettes, respectively, in 2012, 35.7% and 4.1% did so in 2015. The proportion of adults who thought e-cigarettes were addictive more than doubled during 2012-2015 (32.0% in 2012 vs 67.6% in 2015). Compared with 2012, the odds of perceiving e-cigarettes to be equally or more harmful (than to be less harmful) doubled (95% CI=1.64, 2.41) in 2014, and tripled (95% CI=2.60, 3.81) in 2015. CONCLUSIONS: There is an increase in the proportion of U.S. adults who misperceive the harm of e-cigarettes and consider them to be as harmful as combustible cigarettes. The study highlights the need to design public health messages that accurately interpret the scientific data on the potential harm of e-cigarettes and clearly differentiate the absolute from the relative harm of e-cigarettes.


Subject(s)
Electronic Nicotine Delivery Systems , Health Knowledge, Attitudes, Practice , Smoking/psychology , Tobacco Products/adverse effects , Adolescent , Adult , Aged , Female , Humans , Logistic Models , Male , Middle Aged , Perception , Surveys and Questionnaires , United States , Young Adult
9.
Addict Behav ; 69: 78-86, 2017 06.
Article in English | MEDLINE | ID: mdl-28161620

ABSTRACT

This study aimed to determine the prevalence and factors associated with hookah smoking and perceptions of harm among U.S. adults. Data were pooled from the Tobacco Products and Risk Perceptions Surveys conducted separately in the summers of 2014 and 2015, among a probability sample selected from an online research panel. Descriptive, logistic regression, and multinomial logistic regression analyses were conducted. In 2014/2015, prevalence of ever and past 30-day hookah smoking among U.S. adults were 15.8% (95% C.I.: 15.0%, 16.7%) and 1.5% (95% C.I.: 1.2%, 1.8%), respectively. Adults who used other alternative tobacco products had a higher odds of hookah smoking than those who did not. Adults with some college education (AOR, 1.53) and with a college degree or more (AOR, 2.21), those identified as non-Hispanic other (AOR, 1.38) were more likely to be ever hookah smokers. Being a young adult (AOR, 2.7), college-educated (AOR, 2.3), never smoker (AOR, 2.1), and an ever hookah smoker (AOR, 2.8) were associated with lower perceptions of harm. Findings suggest that young college students are at higher risk of smoking hookah and that hookah smoking is more prevalent among individuals who use other tobacco products, such as little cigars and cigarillos, traditional cigars, and e-cigarettes, indicating a distinct group of users of alternative tobacco products. Regarding potential harm of hookah, the study highlights a knowledge gap and misperception especially among young, college-educated, and never smokers. Public health interventions should target these subpopulations to provide them with accurate information on hookah smoking.


Subject(s)
Health Knowledge, Attitudes, Practice , Smoking Water Pipes/statistics & numerical data , Adolescent , Adult , Aged , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Prevalence , United States , Young Adult
10.
Nicotine Tob Res ; 19(11): 1351-1358, 2017 Nov 01.
Article in English | MEDLINE | ID: mdl-27659275

ABSTRACT

INTRODUCTION: Few studies have examined the perceptions of risk of little cigar and cigarillo (LCC) smoking among cigarette smokers, which is important for expanding regulatory policies and developing prevention programs. We examined current cigarette smokers' perceived harm of LCC smoking, and determined whether these perceptions were associated with susceptibility and intention to continue smoking LCCs. METHODS: Data were from the 2014 Tobacco Products and Risk Perceptions Survey of a probability sample of 5717 US adults. Data were analyzed for a subsample of 1191 current cigarette smokers who were stratified into three groups: (1) dual current cigarette smokers who had ever used LCCs, (2) current smokers susceptible to LCC smoking, and (3) current smokers who were not susceptible to LCC smoking. RESULTS: Overall, 47.2% of participants were dual smokers, 12.7% were susceptible to LCC smoking, and 40.1% were not susceptible. Perceptions of risk of LCCs varied across the groups. Dual smokers were more likely to perceive that daily LCC smoking is "very risky" (OR = 1.64, 95% CI = 1.08, 2.41) while occasional LCC smoking is only "somewhat risky" (OR = 1.71, 95% CI = 1.02, 2.87). Of the dual smokers, 20.7% intended to continue smoking LCCs in the future. Perceptions of addiction and risk of daily LCC smoking significantly predicted intention to continue LCC smoking. Addiction perceptions also significantly predicted susceptibility to initiate LCC smoking. CONCLUSIONS: Perceptions about harms from and addiction to LCCs could predict future LCC smoking. Health communication campaigns need to address the harms of LCCs. IMPLICATIONS: Our data suggest that perceptions of risk about the addictiveness of LCCs and frequency of use are important determinants of the LCC smoking susceptibility among some cigarette smokers and intended continued use among cigarette smokers with a history of LCC use. Health communication campaigns should address misperceptions related to LCCs.


Subject(s)
Health Knowledge, Attitudes, Practice , Smokers/psychology , Smoking Cessation/statistics & numerical data , Smoking/epidemiology , Tobacco Products/statistics & numerical data , Adolescent , Adult , Cross-Sectional Studies , Ethnicity , Female , Humans , Male , Middle Aged , Smoking/ethnology , Surveys and Questionnaires , United States , Young Adult
11.
Tob Regul Sci ; 2(3): 239-251, 2016 Jul.
Article in English | MEDLINE | ID: mdl-27413772

ABSTRACT

OBJECTIVE: This study examines little cigar and cigarillo (LCC) adult user characteristics, perceived addictiveness, use and importance of flavors, intentions to continue use, and reasons for use to inform prevention efforts and regulatory policy. METHODS: Data come from the 2014 Tobacco Products and Risk Perceptions Survey of a national probability sample of 5717 US adults, conducted online, June-November, 2014. The analytic sample consisted of 141 current LCC users. RESULTS: Current LCC smokers were more likely to be male, younger, black or Hispanic, lower SES, current cigarette smokers, and to report poorer health than non-smokers. Perceived addictiveness was low overall, with 73.6% considering themselves "not at all" addicted, although female LCC users and dual users of cigarettes were more likely to consider themselves addicted to LCCs. Use of flavored LCCs was widespread. Flavors were cited as important reasons for use, especially among younger users, as were favorable comparisons with affordability and burn time of cigarettes. CONCLUSIONS: Most LCC users do not perceive themselves addicted to LCCs. Users report being influenced most by flavorings and affordability, indicating that appropriate regulations and education to improve health perceptions could help reduce use of these harmful products.

12.
Int J Public Health ; 61(2): 177-88, 2016 Mar.
Article in English | MEDLINE | ID: mdl-26560309

ABSTRACT

OBJECTIVES: This study assessed the awareness and use of traditional and novel tobacco products and dual use of cigarettes with electronic nicotine delivery systems (ENDS) among USA adults. METHODS: Data were obtained from the 2014 Tobacco Products and Risk Perceptions Survey of a probability sample of 5717 USA adults conducted June-November, 2014. RESULTS: Use of ENDS varied by demography and by cigarette and other tobacco use. Adults aged 25-34, non-heterosexual adults, and those reporting poorer health reported higher rates of current ENDS use. Current cigarette smokers had much greater odds of ENDS ever use than never smokers, with one-half of all cigarette smokers having used ENDS and 20.7 % currently using them. However, 22.0 % of current ENDS users were former cigarette smokers, and 10.0 % were never cigarette smokers. CONCLUSIONS: Patterns of ENDS use are evolving rapidly and merit continued surveillance. Nearly 10 % of adult ENDS usage is among never smokers. The public health challenge is how to enhance the potential that ENDS can replace combusted tobacco products without expanding nicotine use among youth, long-term ex-smokers, and other vulnerable populations.


Subject(s)
Electronic Nicotine Delivery Systems/statistics & numerical data , Smoking/epidemiology , Tobacco Products/statistics & numerical data , Adolescent , Adult , Awareness , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Nicotine/administration & dosage , Smoking Cessation , Surveys and Questionnaires , United States/epidemiology
13.
Health Behav Policy Rev ; 3(6): 590-596, 2016 Nov.
Article in English | MEDLINE | ID: mdl-28393082

ABSTRACT

OBJECTIVE: This pilot study explored psychosocial influences of e-cigarette use among dual users. METHODS: Two focus groups among adult current smokers who had ever used e-cigarettes were conducted in Georgia. Discussions were audio-recorded. Principles of grounded theory and thematic analysis were employed. RESULTS: Reasons for initial use included curiosity and social influence. Themes related to regular use included enjoyment of sensory experiences and perception of reduced harm. Nicotine craving, social image, and convenience were reasons for initial and regular dual use. Two patterns of use emerged - (1) using e-cigarettes to supplement combustible cigarettes; and (2) to replace combustible cigarettes. CONCLUSIONS: Reasons for dual use were related to nicotine dependence, social influence, product appeal, and perception of reduced harm. Understanding contextual nuances of dual use can inform policy and communication.

15.
Nicotine Tob Res ; 17(6): 675-81, 2015 Jun.
Article in English | MEDLINE | ID: mdl-25358659

ABSTRACT

INTRODUCTION: In the United States, electronic cigarettes (e-cigarettes) are currently unregulated, extensively marketed, and experiencing a rapid increase in use. The purpose of this study was to examine the opinions of U.S. adults about e-cigarette use in smoke-free public areas. METHODS: Data were obtained from the online HealthStyle survey administered to a probability sample of a nationally representative online panel. The study included 4,043U.S. adults, aged 18 years or older who responded to this question, "Do you think e-cigarette should be allowed to be used in public areas where tobacco smoking is prohibited?" Multinomial logistic regression analyses were used to examine opinions on e-cigarette use in smoke-free areas by sex, age, race/ethnicity, household income, education, census region, and cigarette smoking status and e-cigarette awareness and ever use. RESULTS: Overall, about 40% of adults were uncertain whether e-cigarettes should be allowed in smoke-free areas, 37% opposed, while 23% favored their use in smoke-free public places. Multinomial logistic regression analyses showed that adults who were aware, ever used e-cigarettes, and current cigarette smokers were more likely to express an "in favor" opinion than adults who expressed an uncertain opinion (don't know). CONCLUSION: Over 75% of U.S. adults reported uncertainty or disapproval of the use of e-cigarettes in smoke-free areas. Current cigarette smokers, adults aware or have ever used e-cigarettes were more supportive to exempting e-cigarettes from smoking restrictions. With impending regulation and the changing e-cigarette landscape, continued monitoring and research on public opinions about e-cigarette use in smoke-free places are needed.


Subject(s)
Attitude , Electronic Nicotine Delivery Systems , Public Opinion , Smoke-Free Policy , Smoking , Adolescent , Adult , Aged , Ethnicity , Female , Humans , Logistic Models , Male , Middle Aged , Smoking Cessation , Surveys and Questionnaires , United States , Young Adult
16.
PLoS One ; 9(9): e103732, 2014.
Article in English | MEDLINE | ID: mdl-25197834

ABSTRACT

BACKGROUND: A serious worldwide effort to strengthen research based knowledge translation (KT) has begun in recent years and some countries, particularly developed ones, are trying to incorporate KT in their health and health research systems. Keeping in mind the recent economic depression and the need to perform more efficient research, we aimed to assess and compare the KT status of selected health research institutes in the Eastern Mediterranean Regions' countries, and to identify their strengths and weaknesses in the field. METHODS: After finding the focal points that would steer the focus group discussions (FGDs) and help complete the 'Self Assessment Tool for Research Institutes' (SATORI) tool, each focal point held two FGDs in which researchers, research authorities and other individuals specified in detail further in the study were held. The scores obtained by each institute were evaluated quantitatively, and the transcriptions were analyzed qualitatively with OpenCode software. RESULTS: For ease of analysis the 50 items of the SATORI were classified into 7 main domains: 'priority setting', 'research quality and timeliness', 'researchers' KT capacities', 'facilities and pre-requisites of KT', 'processes and regulations supporting KT', 'interaction with research users', and 'promoting and evaluating the use of knowledge'. Based on the scoring system, the strongest domain was 'research quality and timeliness'. 'Priority setting' was the weakest domain of all. The remaining domains were more or less equal in strength and were not in a favorable state. The qualitative findings confirmed the quantitative findings. CONCLUSIONS: The main problem, it seems, is that a KT climate does not exist in the region. And despite the difference in the contexts, there are many similarities in the region's institutes included in this study. Collaborative efforts can play a role in creating this climate by steering countries towards KT and suggesting regional strategic directions according to their needs.


Subject(s)
Information Dissemination , Universities , Humans , Mediterranean Region
17.
Pak J Biol Sci ; 17(7): 891-7, 2014 Jul.
Article in English | MEDLINE | ID: mdl-26035937

ABSTRACT

P53 as a tumor suppressor gene plays a major role in cancer development, it is essential for cell growth regulation and apoptosis. The deletion of p53 is known to be associated with aggressive diseases in several hematological malignancies. The evidence indicated that p53 deletions can be acquired as a result of chemotherapy. Therefore, a follow-up study for p53 gene deletion by fluorescence in situ hybridization technique (FISH) was carried out for the patients group who affected with different hematological malignancies before and after chemotherapy. The main goals from screening of p53 deletion were to assess the correlation between p53 deletion and chemotherapy resistance, overall median survival and chromosomal abnormalities. It is concluded from the present study that p53 deletion has a cardinal effect on the clinical outcome (chemotherapy resistance, overall median survival) and outcome of chromosomal abnormalities (quality and quantity of chromosomal abnormalities) of the patients who were affected with hematological malignancies before and after chemotherapy.


Subject(s)
Gene Deletion , Genes, p53 , Hematologic Neoplasms/genetics , Humans , In Situ Hybridization, Fluorescence , Pilot Projects
18.
BMC Blood Disord ; 12: 4, 2012 Mar 27.
Article in English | MEDLINE | ID: mdl-22452742

ABSTRACT

BACKGROUND: Although G6PD deficiency is the most common genetically determined blood disorder among Iraqis, its molecular basis has only recently been studied among the Kurds in North Iraq, while studies focusing on Arabs in other parts of Iraq are still absent. METHODS: A total of 1810 apparently healthy adult male blood donors were randomly recruited from the national blood transfusion center in Baghdad. They were classified into G6PD deficient and non-deficient individuals based on the results of methemoglobin reduction test (MHRT), with confirmation of deficiency by subsequent enzyme assays. DNA from deficient individuals was studied using a polymerase chain reaction-Restriction fragment length polymorphism (PCR-RFLP) for four deficient molecular variants, namely G6PD Mediterranean (563 C→T), Chatham (1003 G→A), A- (202 G→A) and Aures (143 T→C). A subset of those with the Mediterranean variant, were further investigated for the 1311 (C→T) silent mutation. RESULTS: G6PD deficiency was detected in 109 of the 1810 screened male individuals (6.0%). Among 101 G6PD deficient males molecularly studied, the Mediterranean mutation was detected in 75 cases (74.3%), G6PD Chatham in 5 cases (5.0%), G6PD A- in two cases (2.0%), and G6PD Aures in none. The 1311 silent mutation was detected in 48 out of the 51 G6PD deficient males with the Mediterranean variant studied (94.1%). CONCLUSIONS: Three polymorphic variants namely: the Mediterranean, Chatham and A-, constituted more than 80% of G6PD deficient variants among males in Baghdad. Iraq. This observation is to some extent comparable to other Asian Arab countries, neighboring Turkey and Iran.

19.
Head Neck Oncol ; 2: 13, 2010 Jun 25.
Article in English | MEDLINE | ID: mdl-20579333

ABSTRACT

OBJECTIVES: Squamous cell carcinoma (SCC) is by far the most common malignant neoplasm of the oral cavity. A number of etiologic factors have been implicated in its development. During the past few decades, a particular focus has been placed on the investigation of valid biomarkers predictive of cancer behavior and cervical lymph node metastasis in head and neck Squamous cell carcinoma (HNSCC).The present study was designed to investigate the expression of epidermal growth factor in these tumors in relation to proliferation, apoptosis, angiogenesis and lymphangiogenesis. MATERIALS AND METHODS: Immunohistochemical (IHC) evaluation of epidermal growth factor receptor (EGFR) expression in 40 retrospective OSCC specimens and its correlation with proliferating cell nuclear antigen (PCNA), antiapoptotic antibody (P53), vascular endothelial growth factor (VEGF), and D2-40 monoclonal antibodies (Mab), in relation to the clinicopathological parameters. RESULTS: Data revealed positive EGFR immunoreactivity in 35(87.5%) cases. There was a statistically significant correlation regarding EGFR extent score with respect to intratumoral lymphatic vessel density (ILVD) (r = 0.35) as well as EGFR intensity score with respect to ILVD and peritumoral lymphatic vessel density (PLVD) (r = 0.33, r = 0.36 respectively). EGFR expression was not correlated with the clinicopathological parameters. CONCLUSIONS: EGFR is expressed by most of the cases. EGFR correlation with D2- 40 positive lymphatic vessels suggests a higher tendency of OSCC for lymphatic dissemination. Lack of correlation among the studied markers suggests their independent effect on tumor behavior.


Subject(s)
Carcinoma, Squamous Cell/enzymology , Carcinoma, Squamous Cell/pathology , ErbB Receptors/biosynthesis , Mouth Neoplasms/enzymology , Mouth Neoplasms/pathology , Adult , Aged , Aged, 80 and over , Apoptosis/physiology , Carcinoma, Squamous Cell/blood supply , Cell Growth Processes/physiology , Female , Humans , Immunohistochemistry , Lymphangiogenesis , Male , Middle Aged , Mouth Neoplasms/blood supply , Neovascularization, Pathologic/enzymology , Neovascularization, Pathologic/pathology , Prognosis , Retrospective Studies , Young Adult
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