Publications by authors named "Hassan Hosseinzadeh"

43 Publications

STRs: Ancient Architectures of the Genome beyond the Sequence.

J Mol Neurosci 2021 May 30. Epub 2021 May 30.

Division of Medical Genetics, Tabriz Childrens Hospital, Tabriz University of Medical Sciences, Tabriz, Iran.

Short tandem repeats (STRs) are commonly defined as short runs of repetitive nucleotides, consisting of tandemly repeating 2-6- bp motif units, which are ubiquitously distributed throughout genomes. Functional STRs are polymorphic in the population, and their variations influence gene expression, which subsequently may result in pathogenic phenotypes. To understand STR phenotypic effects and their functional roles, we describe four different mutational mechanisms including the unequal crossing-over model, gene conversion, retrotransposition mechanism and replication slippage. Due to the multi-allelic nature, small length, abundance, high variability, codominant inheritance, nearly neutral evolution, extensive genome coverage and simple assaying of STRs, these markers are widely used in various types of biological research, including population genetics studies, genome mapping, molecular epidemiology, paternity analysis and gene flow studies. In this review, we focus on the current knowledge regarding STR genomic distribution, function, mutation and applications.
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http://dx.doi.org/10.1007/s12031-021-01850-6DOI Listing
May 2021

DOCK8-related Immunodeficiency Syndrome (DIDS): Report of Novel Mutations in Iranian Patients.

J Mol Neurosci 2021 May 4. Epub 2021 May 4.

Division of Medical Genetics, Tabriz Children's Hospital, Tabriz University of Medical Sciences, Tabriz, Iran.

DOCK8 immunodeficiency syndrome (DIDS) is a rare autosomal recessive (AR) disorder characterized by elevated serum IgE levels, eosinophilia, recurrent cutaneous infections, severe eczema, and sinopulmonary and gastrointestinal infections. This syndrome is a multisystem disease that is associated with both immune deficiency and neurological complications. In this study, we describe the clinical characteristics of two Iranian patients with DOCK8 deficiency and propose possible mechanisms for this condition. By using whole exome sequencing (WES), we identified two novel mutations, namely c.3233_3234del AG (p.Q1078fs) in exon 6 and a large deletion with 94 kb (c.405-3231 deletion, p.K135fs), in these two patients. These variations are confirmed with Sanger sequencing and CGH array. Subsequent co-segregation analysis is performed to identify inheritance patterns. Both patients were homozygote and their parents were heterozygote for the variations. For further investigation, prediction tools were applied to identify the pathogenicity of the variations and also for modeling the truncated proteins. The patients did not show neurological abnormalities associated with a deficiency of the N terminal region of DOCK8. The absence of neurological complications in the first patient is justifiable due to the maintenance of the proline-rich region in DOCK8, but for the second patient with expanded deletion which is almost like null DOCK8 protein, it is not presumable, pointing to the fact that the C terminal region of the protein might have functions in the proliferation and migration neurons in the peripheral nervous system. Alternatively, it is possible that neurological abnormalities follow an age-dependent pattern, leading to the appearance of related symptoms later in life. Further multiple functional studies are needed to model different identified variants in animal models to confirm our results and suggest possible mechanisms associated with DOCK8 deficiency in this study.
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http://dx.doi.org/10.1007/s12031-021-01843-5DOI Listing
May 2021

Effectiveness of Health Literacy Interventions on COPD Self-Management Outcomes in Outpatient Settings: A Systematic Review.

COPD 2021 Jun 26;18(3):367-373. Epub 2021 Apr 26.

School of Health & Society, Faculty of Social Sciences, University of Wollongong, Wollongong, NSW, Australia.

Chronic obstructive pulmonary disease (COPD) is a chronic progressive lung disease which imposes significant health and economic burdens on societies. Self-management is beneficial in controlling and managing COPD and health literacy (HL) is a major driver of COPD self-management. This review aims to summarize the most recent evidence on the effectiveness of HL driven COPD self-management interventions using randomized controlled trials (RCTs). Eight data bases including Science Citation Index, Academic Search Complete, Social Sciences Citation Index, CINAHL Plus, APA PsycInfo, MEDLINE, Scopus and ScienceDirect were searched to find eligible RCTs assessing the effectiveness of HL interventions on COPD self-management outcomes in outpatient settings between 2008 and February 2020. Ten RCTs met the eligibility criteria. The review found that HL interventions led to moderate improvements in physical activity levels (four out of seven trials) and COPD knowledge (three out of six trials). Surprisingly, none of the RCTs led to significant improvement in medication adherence, which warrants further studies. Furthermore, there were inconclusive findings regarding other COPD self-management outcomes such as smoking cessation, medication adherence, dyspnea, mental health, hospital admissions and health related quality of life.
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http://dx.doi.org/10.1080/15412555.2021.1872061DOI Listing
June 2021

Smartphone overuse: A hidden crisis in COVID-19.

Health Policy Technol 2021 Mar 23;10(1):21-22. Epub 2021 Jan 23.

School of Health and Society, University of Wollongong, NSW, Australia.

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http://dx.doi.org/10.1016/j.hlpt.2021.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7825859PMC
March 2021

New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa.

Orphanet J Rare Dis 2021 01 28;16(1):51. Epub 2021 Jan 28.

Department of Medical Genetics, Tabriz University of Medical Sciences, Tabriz, Iran.

Background: FBLN5-related cutis laxa (CL) is a rare disorder that involves elastic fiber-enriched tissues and is characterized by lax skin and variable systemic involvement such as pulmonary emphysema, arterial involvement, inguinal hernias, hollow viscus diverticula and pyloric stenosis. This type of CL follows mostly autosomal recessive (AR) and less commonly autosomal dominant patterns of inheritance.

Results: In this study, we detected a novel homozygous missense variant in exon 6 of FBLN5 gene (c.G544C, p.A182P) by using whole exome sequencing in a consanguineous Iranian family with two affected members. Our twin patients showed some of the clinical manifestation of FBLN5-related CL but they did not present pulmonary complications, gastrointestinal and genitourinary abnormalities. The notable thing about this monozygotic twin sisters is that only one of them showed ventricular septal defect, suggesting that this type of CL has intrafamilial variability. Co-segregation analysis showed the patients' parents and relatives were heterozygous for detected variation suggesting AR form of the CL. In silico prediction tools showed that this mutation is pathogenic and 3D modeling of the normal and mutant protein revealed relative structural alteration of fibulin-5 suggesting that the A182P can contribute to the CL phenotype via the combined effect of lack of protein function and partly misfolding-associated toxicity.

Conclusion: We underlined the probable roles and functions of the involved domain of fibulin-5 and proposed some possible mechanisms involved in AR form of FBLN5-related CL. However, further functional studies and subsequent clinical and molecular investigations are needed to confirm our findings.
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http://dx.doi.org/10.1186/s13023-021-01696-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7845118PMC
January 2021

Adaptogenic effects of on modulation of immune functions.

J Ginseng Res 2021 Jan 17;45(1):32-40. Epub 2020 Sep 17.

Department of Integrative Biotechnology, Sungkyunkwan University, Suwon, Republic of Korea.

Traditional medicinal practices have used natural products such as adaptogens to treat inflammatory, autoimmune, neurodegenerative, bacterial, and viral diseases since the early days of civilization. Myer is a common herb used in East Asian countries for millennia, especially in Korea, China, and Japan. Numerous studies indicate that ginseng can modulate the immune system and thereby prevent diseases. Although the human immune system comprises many different types of cells, multiple studies suggest that each type of immune cell can be controlled or stimulated by ginseng or its derivatives. Provisional lists of ginseng's potential for use against viruses, bacteria, and other microorganisms suggest it may prove to be a valuable pharmaceutical resource, particularly if higher-quality evidence can be found. Here, we reviewed the role of ginseng as an immune-modulating agent in attempt to provide a valuable starting point for future studies on the herb and the human immune system.
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http://dx.doi.org/10.1016/j.jgr.2020.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7790873PMC
January 2021

COVID-19 Vaccine: Critical Questions with Complicated Answers.

Biomol Ther (Seoul) 2021 Jan;29(1):1-10

Department of Integrative Biotechnology, and Biomedical Institute for Convergence at SKKU (BICS), Sungkyunkwan University, Suwon 16419, Republic of Korea.

COVID-19 has caused extensive human casualties with significant economic impacts around the globe, and has imposed new challenges on health systems worldwide. Over the past decade, SARS, Ebola, and Zika also led to significant concerns among the scientific community. Interestingly, the SARS and Zika epidemics ended before vaccine development; however, the scholarly community and the pharmaceutical companies responded very quickly at that time. Similarly, when the genetic sequence of SARSCoV-2 was revealed, global vaccine companies and scientists have stepped forward to develop a vaccine, triggering a race toward vaccine development that the whole world is relying on. Similarly, an effective and safe vaccine could play a pivotal role in eradicating COVID-19. However, few important questions regarding SARS-CoV-2 vaccine development are explored in this review.
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http://dx.doi.org/10.4062/biomolther.2020.178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7771841PMC
January 2021

Patient activation and Type 2 diabetes mellitus self-management: a systematic review and meta-analysis.

Aust J Prim Health 2020 Dec;26(6):431-442

School of Health and Society, Building 15, Room 146, University of Wollongong, NSW 2522, Australia.

Patient activation has been recognised as a reliable driver of self-management decision-making. This systematic review and meta-analysis examines existing evidence on whether embedding patient activation within Type 2 diabetes mellitus (T2DM) self-management programs can improve patient outcomes. This review has included 10 randomised controlled trials (RCTs) conducted between 2004 and 2019 retrieved from well-known databases such as MEDLINE, PubMed, CINAHL Plus, Scopus, ProQuest and ScienceDirect. The eligible RCTs were excluded if they scored low according to Cochrane Collaboration's 'risk of bias' criteria. Random-effects meta-analyses showed that there were no significance changes in haemoglobin A1C (HbA1c), body mass index (BMI) and patient activation measure (PAM) between intervention and control groups after the intervention; however, the systematic review findings indicated that an improved patient activation level led to significant improvements in T2DM self-management and clinical outcomes including HbA1c level. Studies with a longer follow-up period conducted in community settings and delivered by peer coaches were more likely to lead to significant improvement in both patient activation levels and T2DM self-management and clinical outcomes. This review concludes that patient activation can be used as a reliable tool for improving T2DM self-management and clinical outcomes.
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http://dx.doi.org/10.1071/PY19204DOI Listing
December 2020

Application of structural equation modeling in assessing the self-management activities of patients with type 2 diabetes.

J Prim Care Community Health 2020 Jan-Dec;11:2150132720974204

UNSW, Sydney, New South Wales, Australia.

Objective: This study aimed at assessing the self-management activities of type 2 diabetes patients using Structural Equation Modeling (SEM) which measures and analyzes the correlations between observed and latent variables. This statistical modeling technique explored the linear causal relationships among the variables and accounted for the measurement errors.

Methods: A sample of 200 patients was recruited from the middle-aged population of rural areas of Pakistan to explore the self-management activities of type 2 diabetes patients using the validated version of the Urdu Summary of Diabetes Self-care Activities (U-SDSCA) instrument. The structural modeling equations of self-management of diabetes were developed and used to analyze the variation in glycemic control (HbA1c).

Results: The validated version of U-SDSCA instrument showed acceptable psychometric properties throughout a consecutive reliability and validity evaluation including: split-half reliability coefficient 0.90, test-retest reliability (r = 0.918,   .001), intra-class coefficient (0.912) and Cronbach's alpha (0.79). The results of the analysis were statistically significant (α = 0.05, -value < .001), and showed that the model was very well fitted with the data, satisfying all the parameters of the model related to confirmatory factor analysis with chi-squared = 48.9, CFI = 0.94, TLI = 0.95, RMSEA = 0.065, SPMR = 0.068. The model was further improved once the items related to special diet were removed from the analysis, chi-squared value (30.895), model fit indices (CFI = 0.98, TLI = 0.989, RMSEA = 0.045, SPMR = 0.048). A negative correlation was observed between diabetes self-management and the variable HbA1c (r = -0.47;  < .001).

Conclusions: The Urdu Summary of Diabetes Self-Care Activities (U-SDSCA) instrument was used for the patients of type 2 diabetes to assess their diabetes self-management activities. The structural equation models of self-management showed a very good fit to the data and provided excellent results which may be used in future for clinical assessments of patients with suboptimal diabetes outcomes or research on factors affecting the associations between self-management activities and glycemic control.
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http://dx.doi.org/10.1177/2150132720974204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7682198PMC
June 2021

End-of-Life Cancer Care Resource Utilisation in Rural Versus Urban Settings: A Systematic Review.

Int J Environ Res Public Health 2020 07 9;17(14). Epub 2020 Jul 9.

School of Health and Society, Faculty of Social Sciences, University of Wollongong, Wollongong, NSW 2522, Australia.

Background: Despite the advances in End-of-life (EOL) cancer care, disparities remain in the accessibility and utilisation of EOL cancer care resources. Often explained by socio-demographic factors, geographic variation exists in the availability and provision of EOL cancer care services among EOL cancer decedents across urban versus rural settings. This systematic review aims to synthesise mortality follow-back studies on the patterns of EOL cancer care resource use for adults (>18 years) during end-of-life cancer care.

Methods: Five databases were searched and data analysed using Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Inclusion criteria involved; a) original research; b) quantitative studies; c) English language; d) palliative care related service use in adults (>18 years) with any malignancy excluding non-melanoma skin cancers; e) exclusive end of life focus; f) urban-rural focus. Narrative reviews and discussions were excluded.

Results: 24 studies met the inclusion criteria. End-of-life cancer care service utilisation patterns varied by rurality and treatment intent. Rurality was strongly associated with higher rates of Emergency Department (ED) visits and hospitalisations and lower rates of hospice care. The largest inequities between urban and rural health service utilisation patterns were explained by individual level factors including age, gender, proximity to service and survival time from cancer diagnosis.

Conclusions: Rurality is an important predictor for poorer outcomes in end-of-life cancer care. Findings suggest that addressing the disparities in the urban-rural continuum is critical for efficient and equitable palliative cancer care. Further research is needed to understand barriers to service access and usage to achieve optimal EOL care for all cancer patient populations.
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http://dx.doi.org/10.3390/ijerph17144955DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7400508PMC
July 2020

The Summary of an Urdu Version of Diabetes Self-Care Activities Measure: Psychometric Evaluation and Validation.

J Prim Care Community Health 2020 Jan-Dec;11:2150132720935292

University of New South Wales, Sydney, New South Wales, Australia.

The English version of the Summary of Diabetes Self-Care Activities (SDSCA) measure is the most frequently used self-reporting instrument assessing diabetes self-management. This study is aimed at translating English SDSCA into the Urdu version and validating and evaluating its psychometric properties. The Urdu version of SDSCA was developed based on the guidelines provided by the World Health Organization for translation and adaptation of instruments. The panel of experts examined the content validity, reliability, and internal consistency of the instrument. The translation process from the English version to the Urdu version revealed excellent results at all the stages. The instrument showed promising and acceptable results. Of particular mention are the results related to split-half reliability coefficient 0.90, test-retest reliability ( = 0.918, < .001), intraclass coefficient (0.912), and Cronbach's alpha (.79). The factor analysis (exploratory and confirmatory) was not performed in this study due to the small sample size (n = 30) as the objective was to validate the Urdu version of the SDSCA instrument. This study provided evidence for the reliability and validity of the Urdu Summary of Diabetes Self-Care Activities (U-SDSCA) instrument, which may be used in the future for the patients of diabetes in order to assess type 2 diabetes self-management activities in the rural area of Pakistan and other Urdu-speaking countries.
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http://dx.doi.org/10.1177/2150132720935292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7297472PMC
June 2021

The Role of Health Literacy on the Self-Management of Chronic Obstructive Pulmonary Disease: A Systematic Review.

COPD 2020 06 8;17(3):318-325. Epub 2020 Jun 8.

School of Health and Society, University of Wollongong, Wollongong, New South Wales, Australia.

The effects of health literacy in developing self-management skills among people suffering from Chronic Obstructive Pulmonary Disease (COPD) is a topic that has been lightly tread upon. The advent of tobacco smoking and air pollution caused by the industrialisation era has caused a startling increase in the rates of incidence and prevalence of those diagnosed with COPD. Despite advancement in medical treatment, prevention and health care systems COPD poses a great challenge to public health now than ever before. This systematic review examines eight articles that have dealt with the role health literacy plays in developing self-management skills. This study found that there is no relationship between the adequacy of health literacy and the knowledge or learning of a self-management skill. The relationship between heath literacy and developing skills such as correct technique of inhaler use, awareness of an exacerbation, usage of home-based technological support (telehomecare) needs further delving. Remarkably, it also revealed that health literacy sensitive materials improved self-management skills in all the levels of health literacy. More research is required in identifying literacy sensitive methods that would be beneficial to all disregarding of the level health literary. A wider range of self-management skills pertaining to prevention, maintenance and control needs to be explored.
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http://dx.doi.org/10.1080/15412555.2020.1772739DOI Listing
June 2020

Levels and determinants of health literacy and patient activation among multi-morbid COPD people in rural Nepal: Findings from a cross-sectional study.

PLoS One 2020 29;15(5):e0233488. Epub 2020 May 29.

Centre for Primary Health Care and Equity, UNSW, Sydney, Australia.

Background: Health literacy (HL) and patient activation (PA) are necessary foundations to engage patients in self-management intervention. Each concept plays a unique role in improving access to the effective self-management of chronic disease. In this cross-sectional study, we examined the levels and determinants of HL and PA among the multi-morbid COPD patients in Nepal.

Methods: We conducted interviews with a simple random sample of 238 multi-morbid COPD people from July 2018 to January 2019. The questionnaire included sociodemographic profiles, five domains of the Health Literacy Questionnaire (HLQ), 13-item Patient Activation Measure (PAM) and patient's illness perception by Brief Illness Perception Questionnaire (BIPQ). Multivariable logistic regression was used to examine the associations.

Results: Most people with COPD had low health levels across each of the five domains of the HLQ. The proportion of people with low literacy level across each of the domains was: (i) feeling understood and supported by healthcare providers (79.0%), (ii) having sufficient information to manage my own health (76.5%), (iii) social support for health (77.3%), (iv) ability to find the good health information (75.2%), and (v) understand the health information well enough to know what to do (74.8%), respectively. The majority of patients also reported low levels of patient activation (level 1: 81.5%; level 2: 11.8%), with only 6.7% (level 3: 5%; level 4: 1.7%) reported higher patient activation level. We found significant associations between poor HL levels in the HLQ domains and having no education, being female or from Indigenous and Dalits communities, and having a monthly family income of less than USD176. Having no education and poor illness perception were significantly associated with poor activation level on PAM scale.

Conclusion: A high proportion of multi-morbid COPD peoples had low levels of HL and were less activated than what would be required to self-manage COPD. These were in turn associated with socioeconomic factors and poor illness perception. The findings from this study are being used to design a COPD self-management program tailored to the low health literate population.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0233488PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7259703PMC
August 2020

RUNX1 variant as a genetic predisposition factor for acute myeloid leukemia.

Exp Mol Pathol 2020 08 12;115:104440. Epub 2020 Apr 12.

Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran; Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. Electronic address:

Acute myeloid leukemia (AML) is the most common hematological malignancy among adults and is characterized by accumulation of immature myeloid cells. Different genetic factors have role in the occurrence of AML. Among different proteins, RUNX1 and BAALC are involved in the development AML. It has been shown that BAALC overexpression is a factor that indicate shorter disease free survival in a subset of AML patients. RUNX1 has been implicated in the development of breast, prostate, lung, and skin cancers. The aim of this study is determination of the prevalence of common polymorphisms in BAALC (rs6999622 and rs62527607) and RUNX1 (rs13051066 and rs61750222) in AML patients compared with healthy subjects. A total of 100 AML patients and 100 healthy control subjects were included in our study. Genomic DNA was isolated from peripheral blood and the polymorphisms were genotyped by applying ARMS and PCR-RFLP methods. Finally, data was analyzed using SPPSS software. Our results demonstrate a significant association between the RUNX1 rs13051066 and AML in the co-dominant (odd ratio = 6.66, 95% Cl = 1.85-25, p = .006) and dominant (GT + TT versus GG: odd ratio = 6.15, 95% CI = 1.73-21.87, p = .002) models. The RUNX1 rs13051066 polymorphism is associated with risk of AML in Iranian population. Future studies should consider larger sample size for assessment of RUNX1 gene polymorphisms, and employ cytogenetic and molecular analyses in AML patients from different ethnic origins.
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http://dx.doi.org/10.1016/j.yexmp.2020.104440DOI Listing
August 2020

Activating primary care COPD patients with multi-morbidity through tailored self-management support.

NPJ Prim Care Respir Med 2020 04 3;30(1):12. Epub 2020 Apr 3.

School of Public Health and Community Medicine, UNSW Sydney, Sydney, NSW, Australia.

Given the dearth of COPD self-management interventions that specifically acknowledge multi-morbidity in primary care, we aimed to activate COPD patients through personalised self-management support that recognised the implications of co-morbidities. This single-group experimental study included patients aged 40-84 with a spirometry diagnosis of COPD and at least one co-morbidity. A self-management education programme for COPD in the context of multi-morbidity, based on the Health Belief Model, was tailored and delivered to participants by general practice nurses in face-to-face sessions. At 6 months' follow-up, there was significant improvement in patient activation (p < 0.001), COPD-related quality of life (p = 0.012), COPD knowledge (p < 0.001) and inhaler device technique (p = 0.001), with no significant change in perception of multi-morbidity (p = 0.822) or COPD-related multi-morbidity (0.084). The programme improved patients' self-efficacy for their COPD as well as overall health behaviour. The findings form an empirical basis for further testing the programme in a large-scale randomised controlled trial.
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http://dx.doi.org/10.1038/s41533-020-0171-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7125179PMC
April 2020

Facilitators and barriers to the self-management of COPD: a qualitative study from rural Nepal.

BMJ Open 2020 03 9;10(3):e035700. Epub 2020 Mar 9.

Centre for Primary Health Care and Equity, University of New South Wales, Sydney, New South Wales, Australia.

Objective: To understand the facilitators and barriers to the self-management of chronic obstructive pulmonary disease (COPD) in rural Nepal.

Settings: Community and primary care centres in rural Nepal.

Participants: A total of 14 participants (10 people with COPD and 4 health care providers) were interviewed.

Primary And Secondary Outcome Measures: People with COPD and healthcare provider's experience of COPD self-management in rural Nepal.

Results: Facilitators and barriers affecting COPD self-management in Nepal operated at the patient-family, community and service provider levels. People with COPD were found to have a limited understanding of COPD and medications. Some participants reported receiving inadequate family support and described poor emotional health. At the community level, widespread use of complementary and alternative treatment was found to be driven by social networks and was used instead of western medicine. There were limited quality controls in place to monitor the safe use of alternative treatment. While a number of service level factors were identified by all participants, the pertinent concerns were the levels of trust and respect between doctors and their patients. Service level factors included patients' demands for doctor time and attention, limited confidence of people with COPD in communicating confidently and openly with their doctor, limited skills and expertise of the doctors in promoting behavioural change, frustration with doctors prescribing too many medicines and the length of time to diagnose the disease. These service level factors were underpinned by resource constraints operating in rural areas. These included inadequate infrastructure and resources, limited skills of primary level providers and lack of educational materials for COPD.

Conclusions: The study findings suggest the need for a more integrated model of care with multiple strategies targeting all three levels in order to improve the self-management practices among people with COPD.
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http://dx.doi.org/10.1136/bmjopen-2019-035700DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7064074PMC
March 2020

Self-management practice, associated factors and its relationship with health literacy and patient activation among multi-morbid COPD patients from rural Nepal.

BMC Public Health 2020 Mar 6;20(1):300. Epub 2020 Mar 6.

Centre for Primary Health Care and Equity, UNSW, Sydney, Australia.

Background: Chronic Obstructive Pulmonary Disease (COPD) is a progressive and debilitating condition that affects individuals' quality of life. COPD self-management and supports provided by carers is key to the quality of life people living with COPD. Health literacy (HL) and Patient Activation (PA) are main drivers of self-management practices (SMPs). However, their contribution remains to be fully explored. This study aimed to examine the level of self-management practices, and the relationship with socio-demographic factors, HL and PA among multi-morbid COPD patients from rural Nepal.

Methods: This is a cross-sectional study conducted between July 2018 and January 2019. Patients completed a survey, including Self-management Practices questionnaire (SMPQ), five domains of the Health Literacy Questionnaire (HLQ), and Patient Activation Measure (PAM). The relationship between HL, PAM, and SMPs was examined using univariate statistics. Multivariable analysis was conducted to identify the factors associated with SMPs.

Results: A total of 238 patients responded to the study. The mean score of SMPQ was 45.31(SD = 9.00). The HLQ and PAM scores were positively correlated with the total score of SMPQ. Low level of SMPs were found to be positively associated with being uneducated (β = - 0.43, p = .001), having a low family income (β = - 5.22, p = .002), and, negatively associated with the presence of more than one co-morbidity (β = 3.58, p = 0.007) after controlling for other socio-demographic variables in the multivariable analysis.

Conclusion: The overall SMPs among this sample of Nepalese with COPD were low. Our findings highlight the need to implement a self-management intervention program involving patient activation and health literacy-focused activities for COPD, creating a support system for patients from low-income families and low education.
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http://dx.doi.org/10.1186/s12889-020-8404-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060575PMC
March 2020

Psychometric Evaluation and Validation of an Urdu Version of the Summary of Diabetes Self-Care Activities Measure (U-SDSCA).

Am J Med Qual 2021 Mar-Apr 01;36(2):131-132

University of New South Wales, Sydney, New South Wales, Australia University of Wollongong, Wollongong, New South Wales, Australia University of New South Wales, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1177/1062860620908060DOI Listing
March 2020

Do Chronic Obstructive Pulmonary Diseases (COPD) Self-Management Interventions Consider Health Literacy and Patient Activation? A Systematic Review.

J Clin Med 2020 Feb 28;9(3). Epub 2020 Feb 28.

Centre for Primary Health Care and Equity, UNSW, Sydney NSW-2052, Australia.

Self-management (SM) includes activities that patients initiate and perform in the interest of controlling their disease and maintaining good health and well-being. This review examines the health literacy and patient activation elements of self-management interventions for Chronic Obstructive Pulmonary Diseases (COPD) patients. We investigated the effects of the intervention on health-related quality of life, self-efficacy, depression, and anxiety among people with COPD. We conducted a systematic review of studies evaluating the efficacy of self-management interventions among COPD patients that also included health literacy or patient activation as keywords. Four electronic databases Medline, EMBASE, PsycINFO, and Google Scholar, were searched to identify eligible studies. These studies were screened against predetermined inclusion criteria. Data were extracted according to the review questions. Twenty-seven studies met the criteria for inclusion. All of the included studies incorporated health literacy components and focused on COPD and self-management skills. Three studies measured health literacy; two showed improvements in disease knowledge, and one reported a significant change in health-related behaviors. Seventeen studies aimed to build and measured self-efficacy, but none measured patient activation. Eleven studies with multicomponent interventions showed an improvement in quality of life. Six studies that focused on specific behavioral changes with frequent counseling and monitoring demonstrated improvement in self-efficacy. Two interventions that used psychosocial counseling and patient empowerment methods showed improvement in anxiety and depression. Most self-management interventions did not measure health literacy or patient activation as an outcome. Successful interventions were multicomponent and comprehensive in addressing self-management. There is a need to evaluate the impact of comprehensive self-management interventions that address and measure both health literacy and patient activation on health outcomes for COPD patients.
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http://dx.doi.org/10.3390/jcm9030646DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141381PMC
February 2020

Dual biomarkers long non-coding RNA GAS5 and its target, NR3C1, contribute to acute myeloid leukemia.

Exp Mol Pathol 2020 06 4;114:104399. Epub 2020 Feb 4.

Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. Electronic address:

Acute myeloid leukemia (AML) is a complex hematological neoplasm with poor prognosis. At present, overwhelming evidence indicates that different genetic abnormalities are relevant to the pathogenesis of AML. Nevertheless, its exact molecular mechanism is still unknown. Recently, it was reported that lncRNAs play crucial roles in tumorigenesis. But, their role in the molecular pathogenesis of AML has not been extensively explored. GAS5, one of the earliest known lncRNAs, has an essential role in the formation and progression of multiple human cancers. It was recently demonstrated that GAS5 acts as a riborepressor of the Glucocorticoid receptor) GR) and abnormal levels of GAS5 may alter response of hematopoietic cells to glucocorticoids. GAS5 can have interaction with the GR that encoded by NR3C1 gene and inhibit its transcriptional activity. To test whether the genetic variants can be associated with AML risk, we genotyped rs55829688 (T > C) polymorphism in GAS5 and three NR3C1 SNPs namely rs6195, rs41423247 and rs6189/rs6190 in a population of 100 Iranian AML patients and 100 healthy subjects. The analysis of the data showed the frequency of alleles and genotypes of rs55829688 and rs6189/rs6190 polymorphisms did not differ between patients and healthy subjects. But, rs41423247 and rs6195 demonstrated a significant correlation with AML risk. The rs6195 was associated with higher AML susceptibility in the co-dominant (OR = 4.58, 95% CI = 2.11-9.981, P < .0001), dominant (OR = 4.55, 95% CI = 2.155-9.613, P < .0001), and over-dominant (OR = 4.43, 95% CI = 2.042-9.621, P < .0001) models. Also, the rs41423247 polymorphism was associated with higher risk of AML in co-dominant (OR = 2.07, 95% CI = 1.171-4.242, P = .012) and dominant (OR = 2.47, 95% CI = 1.192-5.142, P = .010) models. Furthermore, haplotype analysis (rs41423247, rs6189.rs6190, rs6195, and rs55829688 respectively) demonstrated that GGAT, CGGT, and GGGT haplotypes were associated with higher risk of AML in the studied population (p-values = .007, 0.042 and 0.044, respectively). The present study reveals a possible role for NR3C1 in the pathogenesis of AML.
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http://dx.doi.org/10.1016/j.yexmp.2020.104399DOI Listing
June 2020

Association of health literacy and diabetes self-management: a systematic review.

Aust J Prim Health 2019 Jan;25(6):526-533

School of Health and Society, University of Wollongong, Northfields Avenue, Wollongong, NSW 2522, Australia; and Corresponding author. Email:

The purpose of this review is to summarise the existing evidence about the association of health literacy (HL) with type 2 diabetes mellitus self-management. The PubMed, Medline, CINHAL, Scopus and Web of Science databases were searched for randomised control trials of type 2 diabetes mellitus (T2DM) self-management and HL published between 2009 and 2018. Fourteen randomised control trials were included in this review. Our findings showed that HL was instrumental in improving diabetes knowledge, physical activity, self-efficacy and quality of life; however, its associations with glycaemic control, self-monitoring of blood glucose, foot care and medication adherence was inconclusive. Customized and community-based HL interventions were more efficient compared to patient-focused HL interventions. This review concludes that HL is key for T2DM self-management, but customised, structured and community-based interventions are more likely to yield better outcomes.
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http://dx.doi.org/10.1071/PY19007DOI Listing
January 2019

Prevalence and determinants of frailty in the absence of disability among older population: a cross sectional study from rural communities in Nepal.

BMC Geriatr 2019 10 22;19(1):283. Epub 2019 Oct 22.

Forum for Health Research and Development, Dharan, Nepal.

Background: Longevity and frailty have significant implications for healthcare delivery. They increase demands for healthcare service and surge risk of hospitalization. Despite gaining global attention, determinants of frailty have remained unmeasured in the rural community settings in Nepal. This study aimed to address this gap by accessing the prevalence and determinants of frailty in the absence of disability among older population living in rural communities in eastern Nepal.

Methods: We conducted a cross-sectional analytical study of 794 older adults aged ≥60 living in the rural part of Sunsari and Morang district of eastern Nepal between January and April in 2018. Multi-stage cluster sampling was applied to recruit the study participants. Study measures included socio-demographics; Frail Non-disabled scale (FiND) measuring frailty, Barthel's Index measuring basic activities of daily living and Geriatric depression scale. Determinants of frailty in the absence of disability were identified using generalized estimating equation (GEE).

Results: About 65% of the participants self-reported the presence of frailty in the absence of disability. In the adjusted models, those from underprivileged ethnic groups, lack of daily physical exercise, presence of depressive symptoms and those not getting enough social support from family were found to be significantly associated with frailty among older participants.

Conclusions: The prevalence of frailty in the absence of disability was high among rural community old population living in eastern Nepal. Our findings suggest that need of frailty awareness (both for clinicians and general public), so as to avoid negative consequences. To reduce the healthcare burden early screening frailty in primary care has potentials to prevent implications of frailty in Nepal.
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http://dx.doi.org/10.1186/s12877-019-1290-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6806560PMC
October 2019

The effectiveness of patient activation intervention on type 2 diabetes mellitus glycemic control and self-management behaviors: A systematic review of RCTs.

Prim Care Diabetes 2020 02 20;14(1):12-20. Epub 2019 Sep 20.

School of Health & Society, University of Wollongong, NSW, Australia.

Background: Type 2 diabetes mellitus T2DM is a major health challenge and associated with several complications and mortality. Self-management behaviors SMBs such as healthy diet, physical activity, blood glucose self-monitoring, foot care and medication adherence are critical part of diabetic care. Empowered or activated patients, are more likely to practice better SMBs. However, the effectiveness of patient activation intervention on T2DM glycemic control and SMBs is not totally well understood.

Aim: To assess the effectiveness of patient activation intervention on T2DM glycemic control and SMBs.

Method: A systematic search was undertaken through five databases to find relevant studies published between 2004 and 2018. We included randomized controlled trials with sample size ≥120 and follow up period of ≥12 months and assess the effectiveness of patient activation intervention on T2DM glycemic control and SMBs.

Results: 10 RCTs were identified for analysis. The total sample size is 3728 and the combined mean age is 57.3 years. The combined mean BMI is 31.2kg/m (obese). Seven intervention demonstrated a significant reduction in HbA1c, ranged from 0.36 to 0.80%. All interventions presented an improvement in at least one self-management behavior.

Discussion And Conclusion: Patient activation intervention showed a significant positive effect on T2DM glycemic control and SMBs, particularly physical activity, healthy diet, foot care and blood glucose self-monitoring. The effectiveness on SMBs was seen across different intervention strategies, modes of delivery, length of intervention, and number of providers. Better effectiveness on HbA1c was associated with poorly controlled participants, culturally tailored-intervention, and in-person sessions intervention combined with telephone calls follow up.
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http://dx.doi.org/10.1016/j.pcd.2019.08.009DOI Listing
February 2020

Association between PPARGC1A single nucleotide polymorphisms and increased risk of nonalcoholic fatty liver disease among Iranian patients with type 2 diabetes mellitus

Turk J Med Sci 2019 08 8;49(4):1089-1094. Epub 2019 Aug 8.

Department of Molecular Medicine, School of Advanced Technologies in Medicine, Tehran University of Medical Sciences, Tehran, Iran

Background/aim: Environmental and genetic factors may play a major role in the development of nonalcoholic fatty liver disease (NAFLD) among people with obesity and type 2 diabetes mellitus. Based on the fact that PGC-1α, as the protein encoded by the PPARGC1A gene, plays a key role in energy metabolism pathways, it has been hypothesized that polymorphisms within the PPARGC1Agene may be associated with increased risks of NAFLD. Thus, this study was designed to evaluate the Gly482Ser polymorphism (rs8192678) within the PPARGC1A gene and its association with the increased risk of NAFLD in Iranian patients with type 2 diabetes.

Materials And Methods: A total of 145 NAFLD patients with a history of type 2 diabetes and 145 healthy control subjects were included in the study. Gly482Ser polymorphism genotyping was done using the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) technique.

Results: The results showed a significant difference between the PPARGC1A Gly482Serpolymorphism in NAFLD patients and the healthy controls. Accordingly, the AA genotype and A allele were increased in the NAFLD patients when compared to the healthy controls. However, no significant correlation was observed between the Gly482Ser polymorphism and the physiological and biochemical parameters.

Conclusion: Based on the results, the AA genotype, which is associated with the insertion of Ser, can be considered as a risk factor for the development of NAFLD in Iranian patients with diabetes type 2.
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http://dx.doi.org/10.3906/sag-1808-138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7018303PMC
August 2019

Effectiveness of chronic obstructive pulmonary disease self-management interventions in primary care settings: a systematic review.

Aust J Prim Health 2019 Jun 17. Epub 2019 Jun 17.

Chronic obstructive pulmonary disease (COPD) is one of the more disabling diseases and the third cause of mortality worldwide. Self-management is considered an effective strategy for controlling and managing COPD. This review aims to summarise the available evidence on the effectiveness of COPD self-management in primary care settings. Social Sciences, Citation Index, MEDLINE, CINAHL, Academic Search Complete and Scopus were searched for randomised controlled trials of COPD self-management in general practice between 2001 and 2018. Ten randomised controlled trials of COPD self-management trials conducted in primary care settings were included in this review. The identified trials have recruited stable patients; a majority having mild to moderate COPD. The trials implemented different types of interventions and measured improvements in knowledge, skills and behaviours of self-management, mental health, self-efficacy and endpoint outcomes such as hospitalisation and quality of life. The findings showed that COPD self-management trials had positive effects on COPD knowledge and improved self-management behaviours such as adherence to medication, physical activities and smoking cessation in some cases; however, the effect of trials on hospitalisation rate, quality of life and healthcare utilisation were not conclusive. There was also not enough evidence to suggest that the trials were efficient in improving self-efficacy, a major driver of self-management behaviours. Primary care COPD self-management trials are efficient in improving surrogate outcomes such as knowledge of and adherence to self-management behaviours; however, such improvements are less likely to be sustainable in the absence of self-efficacy. Future studies should also focus on improving endpoint self-management outcomes like hospitalisation rate and quality of life to benefit both patient and healthcare system.
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http://dx.doi.org/10.1071/PY18181DOI Listing
June 2019

Nutritional assessment and factors associated with malnutrition among the elderly population of Nepal: a cross-sectional study.

BMC Res Notes 2019 Apr 30;12(1):246. Epub 2019 Apr 30.

Melaka Manipal Medical College, Manipal Academy of Higher Education, Manipal, India.

Objectives: This study aimed at assessing the nutritional status among the elderly population and factors associated with malnutrition in the community setting in rural Nepal.

Results: Out of 339 participants, 24.8% (95% CI 20.21-29.30) fell into the normal nutritional status range; 49.6% (95% CI 44.29-54.91) were at risk for malnutrition while 24.8% (95% CI 20.21-29.30) were in the malnourished range, based on Mini Nutritional Assessment scores. Our findings revealed that belonging to a Dalit community, being unemployed, having experience of any form of mistreatment, lack of physical exercise, experiencing problems with concentration in past 30 days and taking medication for more than one co-morbidity was significantly associated with the malnutrition status of the elderly.
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http://dx.doi.org/10.1186/s13104-019-4282-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6492417PMC
April 2019

The Pro12Ala polymorphism in the PPAR-γ2 gene is not associated with an increased risk of NAFLD in Iranian patients with type 2 diabetes mellitus.

Cell Mol Biol Lett 2019 15;24:12. Epub 2019 Mar 15.

6Medical Genetic Center, Endocrinology and Metabolism Research Institute (EMRI), Tehran University of Medical Sciences (TUMS), Tehran, Iran.

Background: The peroxisome proliferator-activated receptors (PPARs) are ligand-activated transcription factors that belong to the nuclear hormone receptor superfamily. Several studies have demonstrated a significant association between Pro12Ala polymorphism of the PPAR-γ2 gene and metabolic disorders. Therefore, this study aimed to evaluate the association of Pro12Ala polymorphism with increased risk of NAFLD in Iranian patients with type 2 diabetes mellitus.

Methods: This cross-sectional study was performed on 145 healthy control subjects and 145 NAFLD patients with a history of type 2 diabetes. Pro12Ala polymorphism genotyping was performed using PCR-restriction fragment length polymorphism (RFLP) technique with the restriction enzyme.

Results: Our results demonstrated that CC and GG genotypes of Pro12Ala were found in the participants, but there was no statistically significant difference between NAFLD patients and healthy controls ( = 0.64 and χ = 0.21).

Conclusion: This study suggests that Pro12Ala polymorphism of the PPAR-γ2 gene cannot be considered as a risk factor for NAFLD in the Iranian population.
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http://dx.doi.org/10.1186/s11658-019-0138-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6419465PMC
May 2019

The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function.

Neuromolecular Med 2019 06 27;21(2):160-169. Epub 2019 Mar 27.

Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.

Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders caused by mutations in fourteen distinct ceroid lipofuscinoses, neuronal (CLN) genes described with various severe symptoms such as seizures, visual failure, motor decline, and progressive cognitive deterioration. The current research represents novel CLN5 (c.741G > A) and CLN8 (c.565delT) mutations in two different Iranian families with late-infantile NCL (LINCL) and their relatives by using whole-exome sequencing (WES). The first family had a 10-year-old male with consanguineous parents and severe NCL symptoms, including motor clumsiness, telangiectasia, and cerebellar atrophy. The second family with a child who suffered from nystagmus rotation, motor difficulties, and seizure was a 5-year-old male with consanguineous parent. WES of probands 1 and 2 revealed homozygotic mutations in exon 4 of CLN5 (c.741G > A, p.W247X) and deletion in exon 3 (c.565delT, p.F189fs) of CLN8, respectively. Both patients' parents were heterozygous for these alterations. In concordance with previous studies, our results indicate that pathogenic mutations in CLN genes, especially CLN5 and 8, are a main cause of LINCL; these results also suggest that LINCL is not a regionally or nationally dependent disorder and can occur in any ethnic group despite the fact that some populations may be more at risk. Consequently, CLN gene screening for patients with typical signs of LINCL is recommended.
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http://dx.doi.org/10.1007/s12017-019-08529-7DOI Listing
June 2019

Genetic discoveries and advances in late-onset Alzheimer's disease.

J Cell Physiol 2019 08 20;234(10):16873-16884. Epub 2019 Feb 20.

Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.

Alzheimer's disease (AD) is a heterogeneous disorder with multiple patterns of clinical manifestations. Recently, due to the advance of linkage studies, next-generation sequencing and genome-wide association studies, a large number of putative risk genes for AD have been identified using acquired genome mega data. The genetic association between three causal genes, including amyloid precursor protein, presenilin1, and presenilin2 in early-onset AD (EOAD), was discovered over the past few decades. These discoveries showed that there should be additional genetic risk factors for both EOAD and late-onset AD (LOAD) to help fully explain the leading molecular mechanisms in a single pathophysiological entity. This study reviews the clinical features and genetic etiology of LOAD and discusses a variety of AD-mediated genes that are involved in cholesterol and lipid metabolism, endocytosis, and immune response according to their mutations for more efficient selection of functional candidate genes for LOAD. New mechanisms and pathways have been identified as a result.
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http://dx.doi.org/10.1002/jcp.28372DOI Listing
August 2019

How health literacy and patient activation play their own unique role in self-management of chronic obstructive pulmonary disease (COPD)?

Chron Respir Dis 2019 Jan-Dec;16:1479973118816418

1 Centre for Primary Health Care and Equity, UNSW, Sydney, Australia.

Current evidence indicates that although they are correlated, health literacy (HL) and patient activation (PA) are distinct. This article describes how HL, PA and their determinants intersect and diverge and how these concepts might inform the development of self-management interventions. The concepts of HL and PA contribute to self-management interventions in different ways. HL includes the skills and confidence required for self-management while PA focuses more on motivation and ability to take action. In this light, communication of concepts on HL and PA needs to be more widely understood by academics, researchers and policy experts as each of them plays a unique role in promoting self-management for long-term conditions such as chronic obstructive pulmonary disease.
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http://dx.doi.org/10.1177/1479973118816418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318723PMC
August 2020