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  1. Singh S, Ganesh S
    J. Hum. Genet., 2012 May;57(5):283-5.
    PMID: 22456482 DOI: 10.1038/jhg.2012.29
    Lafora progressive myoclonus epilepsy, also known as Lafora disease (LD), is the most severe and fatal form of progressive myoclonus epilepsy with its typical onset during the late childhood or early adolescence. LD is characterized by recurrent epileptic seizures and progressive decline in intellectual function. LD can be caused by defects in any of the two known genes and the clinical features of these two genetic groups are almost identical. The past one decade has witnessed considerable success in identifying the LD genes, their mutations, the cellular functions of gene products and on molecular basis of LD. Here, we briefly review the current literature on the phenotype variations, on possible presence of genetic modifiers, and candidate modifiers as targets for therapeutic interventions in LD.
  2. Ganesh S, Lye MS, Lau FN
    Asian Pac. J. Cancer Prev., 2016;17(4):1677-84.
    PMID: 27221837
    BACKGROUND: Among the factors reported to determine the quality of life of breast cancer patients are socio- demographic background, clinical stage, type of treatment received, and the duration since diagnosis.

    OBJECTIVE: The objective of this study was to determine the quality of life (QOL) scores among breast cancer patients at a Malaysian public hospital.

    MATERIALS AND METHODS: This cross-sectional study of breast cancer patients was conducted between March to June 2013. QOL scores were determined using the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (EORTC QLQ-C30) and its breast cancer supplementary measure (QLQ-BR23). Both the QLQ-C30 and QLQ-BR23 assess items from functional and symptom scales. The QLQ-C30 in addition also measures the Global Health Status (GHS). Systematic random sampling was used to recruit patients.

    RESULTS: 223 breast cancer patients were recruited with a response rate of 92.1%. The mean age of the patients was 52.4 years (95% CI = 51.0, 53.7, SD=10.3). Majority of respondents are Malays (60.5%), followed by Chinese (19.3%), Indians (18.4%), and others (1.8%). More than 50% of respondents are at stage III and stage IV of malignancy. The mean Global Health Status was 65.7 (SD = 21.4). From the QLQ-C30, the mean score in the functioning scale was highest for 'cognitive functioning' (84.1, SD=18.0), while the mean score in the symptom scale was highest for 'financial difficulties' (40.1, SD=31.6). From the QLQ-BR23, the mean score for functioning scale was highest for 'body image' (80.0, SD=24.6) while the mean score in the symptom scale was highest for 'upset by hair loss' (36.2, SD=29.4). Two significant predictors for Global Health Status were age and employment. The predictors explained 10.6% of the variation of global health status (R2=0.106).

    CONCLUSIONS: Age and employment were found to be significant predictors for Global Health Status (GHS). The Quality of Life among breast cancer patients reflected by the GHS improves as age and employment increases.

  3. Vignesh R, Ganesh SS, Vengata Subramani M, Ravindran M, Abdul Karim RH
    Med. J. Malaysia, 2018 12;73(6):444.
    PMID: 30647230
    No abstract provided.
  4. Tsan SEH, Lim SM, Abidin MFZ, Ganesh S, Wang CY
    Anesth. Analg., 2019 Jul 23.
    PMID: 31348051 DOI: 10.1213/ANE.0000000000004349
    BACKGROUND: Approximately half of all difficult tracheal intubations (DTIs) are unanticipated; hence, proper positioning during intubation is critical to increase the likelihood of success. The bed-up-head-elevated (BUHE) intubation position has been shown to improve laryngeal view, reduce airway complications, and prolong safe apneic time during intubation. In this study, we sought to determine whether the BUHE intubation position is noninferior to Glidescope (GLSC)-assisted intubation with regard to laryngeal exposure.

    METHODS: A total of 138 American Society of Anesthesiologists (ASA) I to III patients were randomly assigned into 2 groups and underwent baseline laryngoscopy in the sniffing position. Group BUHE patients (n = 69) were then intubated in the BUHE position, while group GLSC patients (n = 69) were intubated using GLSC laryngoscopy. Laryngeal exposure was measured using Percentage of Glottic Opening (POGO) score and Cormack-Lehane (CL) grading, and noninferiority will be declared if the difference in mean POGO scores between both groups do not exceed -15% at the lower limit of a 98% confidence interval (CI). Secondary outcomes measured included time required for intubation (TRI), number of intubation attempts, use of airway adjuncts, effort during laryngoscopy, and complications during intubation.

    RESULTS: Mean POGO score in group BUHE was 80.14% ± 22.03%, while in group GLSC it was 86.45% ± 18.83%, with a mean difference of -6.3% (98% CI, -13.2% to 0.6%). In both groups, there was a significant improvement in mean POGO scores when compared to baseline laryngoscopy in the sniffing position (group BUHE, 25.8% ± 4.7%; group GLSC, 30.7% ± 6.8%) (P < .0001). The mean TRI was 36.23 ± 14.41 seconds in group BUHE, while group GLSC had a mean TRI of 44.33 ± 11.53 seconds (P < .0001). In patients with baseline CL 3 grading, there was no significant difference between mean POGO scores in both groups (group BUHE, 49.2% ± 19.6% versus group GLSC, 70.5% ± 29.7%; P = .054).

    CONCLUSIONS: In the general population, BUHE intubation position provides a noninferior laryngeal view to GLSC intubation. The laryngeal views obtained in both approaches were superior to the laryngeal view obtained in the sniffing position. In view of the many advantages of the BUHE position for intubation, the lack of proven adverse effects, the simplicity, and the cost-effectiveness, we propose that clinicians should consider the BUHE position as the standard intubation position for the general population.

  5. Maloney S, Tunnecliff J, Morgan P, Gaida JE, Clearihan L, Sadasivan S, et al.
    J. Med. Internet Res., 2015 Oct 26;17(10):e242.
    PMID: 26503129 DOI: 10.2196/jmir.4763
    BACKGROUND: Approximately 80% of research evidence relevant to clinical practice never reaches the clinicians delivering patient care. A key barrier for the translation of evidence into practice is the limited time and skills clinicians have to find and appraise emerging evidence. Social media may provide a bridge between health researchers and health service providers.

    OBJECTIVE: The aim of this study was to determine the efficacy of social media as an educational medium to effectively translate emerging research evidence into clinical practice.

    METHODS: The study used a mixed-methods approach. Evidence-based practice points were delivered via social media platforms. The primary outcomes of attitude, knowledge, and behavior change were assessed using a preintervention/postintervention evaluation, with qualitative data gathered to contextualize the findings.

    RESULTS: Data were obtained from 317 clinicians from multiple health disciplines, predominantly from the United Kingdom, Australia, the United States, India, and Malaysia. The participants reported an overall improvement in attitudes toward social media for professional development (P

  6. Maloney S, Tunnecliff J, Morgan P, Gaida J, Keating J, Clearihan L, et al.
    JMIR Med Educ, 2017 Mar 30;3(1):e5.
    PMID: 28360023 DOI: 10.2196/mededu.6357
    BACKGROUND: Professional development is essential in the health disciplines. Knowing the cost and value of educational approaches informs decisions and choices about learning and teaching practices.

    OBJECTIVE: The primary aim of this study was to conduct a cost analysis of participation in continuing professional development via social media compared with live conference attendance.

    METHODS: Clinicians interested in musculoskeletal care were invited to participate in the study activities. Quantitative data were obtained from an anonymous electronic questionnaire.

    RESULTS: Of the 272 individuals invited to contribute data to this study, 150 clinicians predominantly from Australia, United States, United Kingdom, India, and Malaysia completed the outcome measures. Half of the respondents (78/150, 52.0%) believed that they would learn more with the live conference format. The median perceived participation costs for the live conference format was Aus $1596 (interquartile range, IQR 172.50-2852.00). The perceived cost of participation for equivalent content delivered via social media was Aus $15 (IQR 0.00-58.50). The majority of the clinicians (114/146, 78.1%, missing data n=4) indicated that they would pay for a subscription-based service, delivered by social media, to the median value of Aus $59.50.

    CONCLUSIONS: Social media platforms are evolving into an acceptable and financially sustainable medium for the continued professional development of health professionals. When factoring in the reduced costs of participation and the reduced loss of employable hours from the perspective of the health service, professional development via social media has unique strengths that challenge the traditional live conference delivery format.
  7. Tunnecliff J, Ilic D, Morgan P, Keating J, Gaida JE, Clearihan L, et al.
    J. Med. Internet Res., 2015;17(5):e119.
    PMID: 25995192 DOI: 10.2196/jmir.4347
    BACKGROUND: Establishing and promoting connections between health researchers and health professional clinicians may help translate research evidence to clinical practice. Social media may have the capacity to enhance these connections.
    OBJECTIVE: The aim of this study was to explore health researchers' and clinicians' current use of social media and their beliefs and attitudes towards the use of social media for communicating research evidence.
    METHODS: This study used a mixed-methods approach to obtain qualitative and quantitative data. Participation was open to health researchers and clinicians. Data regarding demographic details, current use of social media, and beliefs and attitudes towards the use of social media for professional purposes were obtained through an anonymous Web-based survey. The survey was distributed via email to research centers, educational and clinical institutions, and health professional associations in Australia, India, and Malaysia. Consenting participants were stratified by country and role and selected at random for semistructured telephone interviews to explore themes arising from the survey.
    RESULTS: A total of 856 participants completed the questionnaire with 125 participants declining to participate, resulting in a response rate of 87.3%. 69 interviews were conducted with participants from Australia, India, and Malaysia. Social media was used for recreation by 89.2% (749/840) of participants and for professional purposes by 80.0% (682/852) of participants. Significant associations were found between frequency of professional social media use and age, gender, country of residence, and graduate status. Over a quarter (26.9%, 229/852) of participants used social media for obtaining research evidence, and 15.0% (128/852) of participants used social media for disseminating research evidence. Most participants (95.9%, 810/845) felt there was a role for social media in disseminating or obtaining research evidence. Over half of the participants (449/842, 53.3%) felt they had a need for training in the use of social media for professional development. A key barrier to the professional use of social media was concerns regarding trustworthiness of information.
    CONCLUSIONS: A large majority of health researchers and clinicians use social media in recreational and professional contexts. Social media is less frequently used for communication of research evidence. Training in the use of social media for professional development and methods to improve the trustworthiness of information obtained via social media may enhance the utility of social media for communicating research evidence. Future studies should investigate the efficacy of social media in translating research evidence to clinical practice.
    KEYWORDS: communication; eLearning; evidence-based medicine; social media
  8. Tunnecliff J, Weiner J, Gaida JE, Keating JL, Morgan P, Ilic D, et al.
    J Am Med Inform Assoc, 2017 03 01;24(2):403-408.
    PMID: 27357833 DOI: 10.1093/jamia/ocw085
    Objective: Our objective was to compare the change in research informed knowledge of health professionals and their intended practice following exposure to research information delivered by either Twitter or Facebook.

    Methods: This open label comparative design study randomized health professional clinicians to receive "practice points" on tendinopathy management via Twitter or Facebook. Evaluated outcomes included knowledge change and self-reported changes to clinical practice.

    Results: Four hundred and ninety-four participants were randomized to 1 of 2 groups and 317 responders analyzed. Both groups demonstrated improvements in knowledge and reported changes to clinical practice. There was no statistical difference between groups for the outcomes of knowledge change (P = .728), changes to clinical practice (P = .11) or the increased use of research information (P = .89). Practice points were shared more by the Twitter group (P 

  9. Candyrine SCL, Mahadzir MF, Garba S, Jahromi MF, Ebrahimi M, Goh YM, et al.
    PLoS ONE, 2018;13(7):e0199840.
    PMID: 29975711 DOI: 10.1371/journal.pone.0199840
    Twenty male Saanen goats were randomly assigned to four levels of lovastatin supplementation and used to determine the optimal dosage and sustainability of naturally produced lovastatin from fermentation of palm kernel cake (PKC) with Aspergillus terreus on enteric methane (CH4) mitigation. The effects on ruminal microbiota, rumen fermentation, feed digestibility and health of animal were determined over three measuring periods (4-, 8- and 12-weeks) and the accumulation of lovastatin in tissues was determined at the end of the experiment. The diets contained 50% rice straw, 22.8% concentrates and 27.2% of various proportions of untreated or treated PKC to achieve the target daily intake level of 0 (Control), 2, 4 or 6 mg lovastatin/kg body weight (BW). Enteric CH4 emissions per dry matter intake (DMI), decreased significantly (P<0.05) and equivalent to 11% and 20.4%, respectively, for the 2 and 4 mg/kg BW groups as compared to the Control. No further decrease in CH4 emission thereafter with higher lovastatin supplementation. Lovastatin had no effect on feed digestibility and minor effect on rumen microbiota, and specifically did not reduce the populations of total methanogens and Methanobacteriales (responsible for CH4 production). Similarly, lovastatin had little effect on rumen fermentation characteristics except that the proportion of propionate increased, which led to a decreasing trend (P<0.08) in acetic: propionate ratio with increasing dosage of lovastatin. This suggests a shift in rumen fermentation pathway to favor propionate production which serves as H+ sink, partly explaining the observed CH4 reduction. No adverse physiological effects were noted in the animals except that treated PKC (containing lovastatin) was less palatable at the highest inclusion level. Lovastatin residues were detected in tissues of goats fed 6 mg lovastatin/kg BW at between 0.01 to 0.03 μg/g, which are very low.
  10. Kruszka P, Porras AR, Sobering AK, Ikolo FA, La Qua S, Shotelersuk V, et al.
    Am. J. Med. Genet. A, 2017 Jan;173(1):42-53.
    PMID: 27991738 DOI: 10.1002/ajmg.a.38043
    Down syndrome is the most common cause of cognitive impairment and presents clinically with universally recognizable signs and symptoms. In this study, we focus on exam findings and digital facial analysis technology in individuals with Down syndrome in diverse populations. Photos and clinical information were collected on 65 individuals from 13 countries, 56.9% were male and the average age was 6.6 years (range 1 month to 26 years; SD = 6.6 years). Subjective findings showed that clinical features were different across ethnicities (Africans, Asians, and Latin Americans), including brachycephaly, ear anomalies, clinodactyly, sandal gap, and abundant neck skin, which were all significantly less frequent in Africans (P 
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