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Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers?

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.
Quality of Life among Breast Cancer Patients In Malaysia

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.
High prevalence of poor sleep quality among secondary school students in Malaysia

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.
Fulltext Twelve-month evaluation of the atraumatic restorative treatment approach for class III restorations: An interventional study

Shivanna MM, Ganesh S, Khanagar SB, Naik S, Divakar DD, Al-Kheraif AA, et al.

World J Clin Cases, 2020 Sep 26;8(18):3999-4009.
PMID: 33024756 DOI: 10.12998/wjcc.v8.i18.3999

BACKGROUND: Atraumatic restorative treatment (ART) may be appropriate for populations without accessibility and affordability. More data are required regarding the success rate of ART in anterior teeth.
AIM: To evaluate the clinical performance of restoring class III cavities in anterior teeth of permanent dentition using the ART approach.
METHODS: A longitudinal interventional field study was carried out at two rural primary health centers, Tumkur district, India. A total of 54 teeth in 39 patients were evaluated for the survival rate of class III restorations in permanent anterior teeth using the ART approach in children and adult populations. Evaluation of ART restoration was carried out using Frencken J criteria, the mean procedure time, patient acceptance and reported pain severity during the ART approach were evaluated using a visual analog scale. Calculation of the cost of ART was also performed.
RESULTS: The mean time taken to perform the ART procedure was 14.79 ± 5.8 min with the majority of patients reporting only mild pain. At 6 mo follow-up, 72.2% remained in a good state, but this reduced to 27% at 12 mo. The cumulative survival rate of the restorations was 94.4% at 6 mo and 80.9% at 12 mo follow-up. Estimation of the direct cost for a single class III restoration was 186.50 INR (2.64 USD).
CONCLUSION: ART may be a good comprehensive option for basic oral health care for underserved or inaccessible populations, and preventive care for patients.
Comparison of Macintosh Laryngoscopy in Bed-up-Head-Elevated Position With GlideScope Laryngoscopy: A Randomized, Controlled, Noninferiority Trial

Tsan SEH, Lim SM, Abidin MFZ, Ganesh S, Wang CY

Anesth Analg, 2020 07;131(1):210-219.
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.
Recent breakthroughs on the development of electrodeionization systems for toxic pollutants removal from water environment

Vinayagam V, Kishor Kumar NK, Palani KN, Ganesh S, Kushwaha OS, Pugalenthi A

Environ Res, 2023 Nov 04.
PMID: 37931737 DOI: 10.1016/j.envres.2023.117549

Since ecosystems are becoming inherently polluted, long-term contaminant removal methods are required. Electrodeionization, in particular, has recently been demonstrated as an effective approach for eliminating ionic compounds from contaminated water sources. Being a more environmentally friendly technology is most likely the main reason for its eminence. It uses electricity to replace toxic contaminants that are conventionally used to regenerate and hence reducing the toxins associated with resin regeneration. In wastewater treatment, continuous electrodeionization system overcomes several limitations of ion exchange resins, notably ion dumping. This prospective assessment delves into the mechanism, principle, and theory of electrodeionization system. It also focused on the design and applications, particularly in the removal of toxic compounds, as well as current advances in the electrodeionization system. Recent breakthroughs in electrodeionization were comprehensively discussed. Further developments in electrodeionization systems are also projected, with improved efficiency at the time of functioning at lower costs because of reduced energy use, proving them desirable for commercial usage with a broad array of applications across the globe.
Fulltext Translating Evidence Into Practice via Social Media: A Mixed-Methods Study

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
Fulltext Continuing Professional Development via Social Media or Conference Attendance: A Cost Analysis

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.
Fulltext The acceptability among health researchers and clinicians of social media to translate research evidence to clinical practice: mixed-methods survey and interview study

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
Fulltext Translating evidence to practice in the health professions: a randomized trial of Twitter vs Facebook

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
Fulltext Effects of naturally-produced lovastatin on feed digestibility, rumen fermentation, microbiota and methane emissions in goats over a 12-week treatment period

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.
King or royal family? Testing for species boundaries in the King Cobra, Ophiophagus hannah (Cantor, 1836), using morphology and multilocus DNA analyses

Gowri Shankar P, Swamy P, Williams RC, Ganesh SR, Moss M, Höglund J, et al.

Mol Phylogenet Evol, 2021 Dec;165:107300.
PMID: 34474153 DOI: 10.1016/j.ympev.2021.107300

In widespread species, the diverse ecological conditions in which the populations occur, and the presence of many potential geographical barriers through their range are expected to have created ample opportunities for the evolution of distinct, often cryptic lineages. In this work, we tested for species boundaries in one such widespread species, the king cobra, Ophiophagus hannah (Cantor, 1836), a largely tropical elapid snake distributed across the Oriental realm. Based on extensive geographical sampling across most of the range of the species, we initially tested for candidate species (CS) using Maximum-Likelihood analysis of mitochondrial genes. We then tested the resulting CS using both morphological data and sequences of three single-copy nuclear genes. We used snapclust to determine the optimal number of clusters in the nuclear dataset, and Bayesian Phylogenetics and Phylogeography (BPP) to test for likely species status. We used non-metric multidimensional scaling (nMDS) analysis for discerning morphological separation. We recovered four independently evolving, geographically separated lineages that we consider Confirmed Candidate Species: (1) Western Ghats lineage; (2) Indo-Chinese lineage (3) Indo-Malayan lineage; (4) Luzon Island lineage, in the Philippine Archipelago. We discuss patterns of lineage divergence, particularly in the context of low morphological divergence, and the conservation implications of recognizing several endemic king cobra lineages.
Down syndrome in diverse populations

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
Standardization of Nomenclature for Ocular Tuberculosis - Results of Collaborative Ocular Tuberculosis Study (COTS) Workshop

Agrawal R, Agarwal A, Jabs DA, Kee A, Testi I, Mahajan S, et al.

Ocul Immunol Inflamm, 2019 Dec 10.
PMID: 31821096 DOI: 10.1080/09273948.2019.1653933

Purpose: To standardize a nomenclature system for defining clinical phenotypes, and outcome measures for reporting clinical and research data in patients with ocular tuberculosis (OTB).Methods: Uveitis experts initially administered and further deliberated the survey in an open meeting to determine and propose the preferred nomenclature for terms related to the OTB, terms describing the clinical phenotypes and treatment and reporting outcomes.Results: The group of experts reached a consensus on terming uveitis attributable to tuberculosis (TB) as tubercular uveitis. The working group introduced a SUN-compatible nomenclature that also defines disease "remission" and "cure", both of which are relevant for reporting treatment outcomes.Conclusion: A consensus nomenclature system has been adopted by a large group of international uveitis experts for OTB. The working group recommends the use of standardized nomenclature to prevent ambiguity in communication and to achieve the goal of spreading awareness of this blinding uveitis entity.
Fulltext Author Correction: Ongoing declines for the world's amphibians in the face of emerging threats

Luedtke JA, Chanson J, Neam K, Hobin L, Maciel AO, Catenazzi A, et al.

Nature, 2024 Jan;625(7993):E2.
PMID: 38040869 DOI: 10.1038/s41586-023-06851-6
Fulltext Ongoing declines for the world's amphibians in the face of emerging threats

Luedtke JA, Chanson J, Neam K, Hobin L, Maciel AO, Catenazzi A, et al.

Nature, 2023 Oct;622(7982):308-314.
PMID: 37794184 DOI: 10.1038/s41586-023-06578-4

Systematic assessments of species extinction risk at regular intervals are necessary for informing conservation action1,2. Ongoing developments in taxonomy, threatening processes and research further underscore the need for reassessment3,4. Here we report the findings of the second Global Amphibian Assessment, evaluating 8,011 species for the International Union for Conservation of Nature Red List of Threatened Species. We find that amphibians are the most threatened vertebrate class (40.7% of species are globally threatened). The updated Red List Index shows that the status of amphibians is deteriorating globally, particularly for salamanders and in the Neotropics. Disease and habitat loss drove 91% of status deteriorations between 1980 and 2004. Ongoing and projected climate change effects are now of increasing concern, driving 39% of status deteriorations since 2004, followed by habitat loss (37%). Although signs of species recoveries incentivize immediate conservation action, scaled-up investment is urgently needed to reverse the current trends.

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