Browse publications by year: 2018

  1. Al-Herz W, Chou J, Delmonte OM, Massaad MJ, Bainter W, Castagnoli R, et al.
    Front Immunol, 2018;9:3146.
    PMID: 30697212 DOI: 10.3389/fimmu.2018.03146
    Objective: To present the genetic causes of patients with primary immune deficiencies (PIDs) in Kuwait between 2004 and 2017. Methods: The data was obtained from the Kuwait National Primary Immunodeficiency Disorders Registry. Genomic DNA from patients with clinical and immunological features of PID was sequenced using Sanger sequencing (SS), next generation sequencing (NGS) of targeted genes, whole exome sequencing (WES), and/or whole genome sequencing (WGS). Functional assays were utilized to assess the biologic effect of identified variants. Fluorescence in situ hybridization (FISH) for 22q11.2 deletion and genomic hybridizations arrays were performed when thymic defects were suspected. Results: A total of 264 patients were registered during the study period with predominance of patients with immunodeficiencies affecting cellular and humoral immunity (35.2%), followed by combined immunodeficiencies with associated syndromic features (24%). Parental consanguinity and family history suggestive of PID were reported in 213 (81%) and 145 patients (55%), respectively. Genetic testing of 206 patients resulted in a diagnostic yield of 70%. Mutations were identified in 46 different genes and more than 90% of the reported genetic defects were transmitted by in an autosomal recessive pattern. The majority of the mutations were missense mutations (57%) followed by deletions and frame shift mutations. Five novel disease-causing genes were discovered. Conclusions: Genetic testing should be an integral part in the management of primary immunodeficiency patients. This will help the delivery of precision medicine and facilitate proper genetic counseling. Studying inbred populations using sophisticated diagnostic methods can allow better understanding of the genetics of primary immunodeficiency disorders.
    MeSH terms: Base Sequence; Biological Products; Consanguinity; DNA; Genetic Counseling; Genetic Testing; Humans; Immunologic Deficiency Syndromes; Kuwait; Mutation; Registries; Frameshift Mutation; In Situ Hybridization, Fluorescence; Mutation, Missense; Genomics; Immunity, Humoral; Precision Medicine; High-Throughput Nucleotide Sequencing
  2. Ahzad Hadi Ahmad, Rabiatul Basria S.M.N. Mydin, Nur Ain Nisrina Roan, Abdul Rahman Azhari, Narazah Mohd Yusoff
    A 31-year-old lady with normal physical characteristics was found to have persistent high FSH and LH and was suspected possible premature ovarian failure after reported to have not normal menstrual cycle. Leucocytes were collected from patient’s fresh peripheral blood sample and Giemsa banding (G-banding) was done. All metaphases were captured and analysed using Cytovision software 4.5 and the final analysis show 47,XXX.
  3. Ahzad Hadi Ahmad, Rabiatul Basria S.M.N. Mydin, Nur Ain Nisrina Roan, Abdul Rahman Azhari, Narazah Mohd Yusoff
    Advanced parental age is a risk factor for chromosomal abnormalities in their offspring. Trisomy X or Triple X syn- drome has previously been reported with advanced maternal age. Here we report two (2) cases of Trisomy X with paternal age as risk factor. Generally, Trisomy X individuals show variable physical and psychological manifesta- tions. However, both cases reported here have advanced paternal age as a risk factor; 55 years old (46 years old at conception) for Case 1 with patient having right eye squint, beaked nose, Posterior Misalignment Type Ventricular Septal Defect (PMVSD) and small Patent Ductus Arteriosus (PDA) with failure to thrive and 49 years old (45 years old at conception) for Case 2 with speech delay and protruding tongue. In view of that, advanced paternal age could possibly contribute the accumulation of de novo mutations in germ line mosaicism.

    MeSH terms: Ductus Arteriosus, Patent; Failure to Thrive; Germ Cells; Heart Septal Defects, Ventricular; Humans; Language Development Disorders; Maternal Age; Mosaicism; Nose; Parents; Paternal Age; Risk Factors; Sex Chromosome Aberrations; Strabismus; Trisomy; Chromosomes, Human, X; Sex Chromosome Disorders of Sex Development
  4. Siti Mardhiana Mohamad, Sharifah Azdiana Tuan Din, Hasmah Hussin
    There are only few cases of Eosinophilic Collitis(EC) have been reported worldwide. The mechanism and aetiology of EC are still unclear. We describe a 35 years old man presented with chief complaints of gastrointestinal symptoms. In blood examination, his total IgE and specific IgE to house dust mites were very high. Colonoscopy was done and histological examination from biopsy specimens reported infiltration of lymphoplasmacytic cells and eosinophils, compatible with Eosinophilic colitis. The patient was treated with antihistamine and short course of antibiotics. He was been advised to avoid house dust mites. He was then remained asymptomatic. Our report suggests house dust mites allergy as the causes of EC. Combination of antihistamine, antibiotics and avoidance of house dust mites are helpful in treating EC in this particular case.
    MeSH terms: Adult; Animals; Anti-Bacterial Agents; Biopsy; Colitis; Colonoscopy; Drug Hypersensitivity; Eosinophils; Histamine H1 Antagonists; Humans; Immunoglobulin E; Male; Anti-Allergic Agents; Pyroglyphidae
  5. Salbiah Isa, Mohd Jamsani Mat Salleh
    Haemolysis interferes with many test results through release of red blood cell (RBC) intracellular contents or via spe- cific analytical interferences. In grossly haemolysed sample, potassium level can be raised considerably dependent on the degree of haemolysis and may exceed the critical limit value. In this case report, the potassium level from a grossly haemolysed sample taken after haemodialysis remains within normal range, and this has led to unnecessary repeated blood samplings hence delay the diagnosis. With the persistently high haemolytic index (HI) of  400mg/ dL and normal potassium levels in sequences of samples taken post haemodialysis should raise a high suspicion of in vivo haemodialysis related-haemolysis. An effective communication between laboratory and clinician, and a proper, well-designed protocol or guideline on the management of sample haemolysis in clinical laboratory therefore is very essential to ensure all clinically important but rare case of in vivo haemolysis can be identified early and the potential unwanted serious outcomes can be prevented accordingly.
  6. Rabiatul Basria S.M.N. Mydin, Izzah Nadhirah Muhamad Zahidi, Nurul Nadiah Ishak, Nik Shaida Shamim Nik Ghazali, Said Moshawih, Shafiquzzaman Siddiquee
    The application of nanoparticles (NPs) has attracted considerable attention as targeted delivery systems. CaCO3 has become the focus due to its advantages including affordability, low toxicity, biocompatibility, cytocompatibility, pH sensitivity and sedate biodegradability and environment friendly materials. In this article, we will discuss the po- tential roles of CaCO3-NPs in three major therapeutic applications; as antimicrobial, for drug delivery, and as gene delivery nanocarrier.
    MeSH terms: Anti-Infective Agents; Attention; Calcium Carbonate; Drug Delivery Systems; Gene Transfer Techniques; Nanoparticles
  7. Anusha Achuthan, Mandava Rajeswari
    Over the past few years, challenges remain in producing an accurate brain structures segmentation due to the imag- ing nature of Magnetic Resonance images, that is known to exhibit similar intensity characteristics among subcortical structures such as the hippocampus, amygdala and caudate nucleus. Lack of a distinct image attributes that separate adjacent structures often hinders the accuracy of the segmentation. Therefore, researches have been directed to infer prior knowledge about the possible shape and spatial location to promote accurate segmentation. Realizing the importance of prior information, this focused review aims to introduce brain structures segmentation from the perspective of how the prior information has been utilized in the segmentation methods. A critical analysis on the methodology of the brain segmentation approaches, its’ advantages and issues pertaining to these methods has been discussed in detail. This review also provides an insight to the current happenings and future directions in brain structure segmentation.
  8. Hazwani Ahmad Yusof, Abdul Rashid Aziz, Nor Farah Mohamad Fauzi, Ahmad Munir Che Muhamed
    Exercise has been suggested as the best and the most affordable way for managing blood pressure. The insertion/ deletion of angiotensin I-converting enzyme (ACE) I/D gene polymorphism had been reported to be linked with sev- eral diseases such as hypertension and diabetic nephropathy. Several studies showed that blood pressure response to exercise training for health management also vary among individuals with different genotypes of ACE I/D gene poly- morphism. A study of 9 months of endurance exercise training at 75 to 85 % of VO2max showed that the decrease of resting blood pressure in I allele carriers wass greater than D allele carriers. In contrast, other study discovered that adult women with D allele had greater reduction in resting blood pressure than those with I allele, following a 12-week combined aerobic and resistance exercise training. Despite the inconsistencies of some findings, it has remained unknown if the ACE I/D gene polymorphism would also influence blood pressure response to isometric handgrip training that had been found to be superior to the dynamic resistance exercise training in controlling and preventing high blood pressure. Thus, this article was to review the literature on ACE I/D gene polymorphism and blood pressure response to exercise training that could serve as the basis for future research to identify individuals who will lower resting blood pressure the most with exercise training program for health management.
    MeSH terms: Adult; Alleles; Blood Pressure; Diabetic Nephropathies; Female; Genotype; Humans; Hypertension; Peptidyl-Dipeptidase A; Exercise; Hand Strength; INDEL Mutation; Resistance Training
  9. Reshetnikov RV, Stolyarova AV, Zalevsky AO, Panteleev DY, Pavlova GV, Klinov DV, et al.
    Nucleic Acids Res., 2018 02 16;46(3):1102-1112.
    PMID: 29267876 DOI: 10.1093/nar/gkx1262
    Modeling tools provide a valuable support for DNA origami design. However, current solutions have limited application for conformational analysis of the designs. In this work we present a tool for a thorough study of DNA origami structure and dynamics. The tool is based on a novel coarse-grained model dedicated to geometry optimization and conformational analysis of DNA origami. We explored the ability of the model to predict dynamic behavior, global shapes, and fine details of two single-layer systems designed in hexagonal and square lattices using atomic force microscopy, Förster resonance energy transfer spectroscopy, and all-atom molecular dynamic simulations for validation of the results. We also examined the performance of the model for multilayer systems by simulation of DNA origami with published cryo-electron microscopy and atomic force microscopy structures. A good agreement between the simulated and experimental data makes the model suitable for conformational analysis of DNA origami objects. The tool is available at as a web-service and as a standalone version.
  10. Noorsuzana Mohd Shariff, Naim Faiz Ahmad Imran, Nurshafiqa Aqila Abdul Wahab, Zaid Abd Halim, Siti Hawa Hashim, Nizuwan Azman, et al.
    Infant feeding is thought to modulate cardiovascular risk factors such as obesity, hypertension, hyperglycemia, and dyslipidemia. This possible association between patterns of feeding with development of cardiovascular disease later in life provides the opportunity for early intervention and prevention strategies. Among all the feeding methods applied, breastfeeding is thought to be the best method and is said to be attributable to future health benefits. How- ever, current evidence from the literature is weak and inconsistent to advocate risk factors management. Therefore, this narrative review aims to provide current findings in assessing the association of breastfeeding pattern and risk of developing cardiovascular diseases later in life. We searched three databases (MEDLINE, PubMed and Google Scholar) from year 2000 to 11 July 2018. Findings on the association between breastfeeding and cardiovascular risk factors are equivocal, although positive trend of beneficial effects of breastfeeding in reducing risk of cardiovascular diseases in adulthood was reported in majority of the studies. Future research should address all limitations that were identified by previous studies such as bias of study design and heterogeneity of samples to establish the association between breastfeeding pattern and cardiovascular disease in later life.
    MeSH terms: Breast Feeding; Cardiovascular Diseases; Feeding Methods; Humans; Hyperglycemia; Hypertension; Infant; Obesity; Risk Factors; MEDLINE; Early Intervention (Education); PubMed; Dyslipidemias
  11. Citation: The tenth report of the National Eye Database 2016. Goh PP, Salowi MA, Mokhtar A, Adnan TH, Sa'at N, editors. Kuala Lumpur: Clinical Research Centre; 2018
    MeSH terms: Eye Diseases; Humans; Malaysia; Registries
  12. Mohammad Farris Iman Leong Abdullah, Mohd Afifuddin Mohamad
    This narrative review present and critically appraise the evidence of psychosocial interventions in enhancing post- traumatic growth (PTG) and spirituality in cancer patients and survivors. A comprehensive search of published En- glish language literatures which include both quantitative and qualitative studies was conducted via Google Scholar, PubMed, Medline, PsycINFO, EMBASE, Cochrane Library, Scopus and Web of Science up to September 2018. Out of an initial 17,000 articles, 10 studies were finally included in the review. There were three randomized controlled trials, two non-randomized comparison trials, three time series/pre and post-intervention designs, one mixed design study and one qualitative study which demonstrated psychosocial interventions enhanced PTG and spirituality in cancer patients and survivors. We concluded mindfulness-based interventions may be promising to enhance PTG and spirituality in cancer patients and survivors. On the contrary, evidence for psycho-spiritual therapy, cancer sup- port group, health behavioural change intervention and individual psychotherapy were lacking and poor.
    MeSH terms: Humans; Language; Neoplasms; Randomized Controlled Trials as Topic; MEDLINE; Survivors; Spiritual Therapies; Spirituality; PubMed; Mindfulness
  13. Nozlena Abdul Samad, Nik Nur Syazni Nik Mohamed Kamal, Noorfatimah Yahaya, Mohd Yusmaidie Aziz, Nur Nadhirah Mohamad Zain, Nor Adlin Md Yusoff, et al.
    Melastoma is a genus that belongs to the Melastomataceae family and consists of 50–70 species distributed around India, Southeast Asia, Australia and the Pacific Island. Numerous species of this plant show potential therapeutic purposes. This review summarizes the scientific findings on the ethnobotanical uses, phytochemistry and pharma- cological activities of Melastoma sp. The leaves of Melastoma sp. was widely used by Asian as decoction for the remedy of gastrointestinal disorder apart from root, which was consumed as juice for skin diseases, fever and pain. Majority of the scientific studies focused on M. malabathricum showing high antimicrobial activity towards selected gram-negative and gram-positive bacteria from different parts of the plant. In vitro studies showed that Melastoma sp. possessed anti-coagulant, antioxidant, antiproliferative and immunomodulatory activities. Apart from in vitro, various in vivo studies have been conducted involving methanolic leaf extracts using Sprague Dawley rats for inhi- bition of anti-ulcer, anti-nociceptive, anti-inflammatory, anti-carcinogenic and anti-diabetic activities. Flavonoids, triterpenes, tannins, saponins and steroids are the main classes of secondary metabolites identified from Melastoma sp. Kaempferol derivatives exhibited significant main constituents from the flowers and leaves using various semi polar solvent extracts. Few phytosterols were also isolated from the leaves extract albeit the absence of alkaloids. This review shows that Melastoma sp. is an important genus of Melastomataceae family, however, the phytochemical and pharmacological findings of various species in this genus are still limited, indicating a great opportunity to explore new therapeutic activities with novel bioactive constituents.
  14. Sharma DS, Srivastava S, Tandon S
    J Oral Biol Craniofac Res, 2018 05 03;9(2):209-214.
    PMID: 31211038 DOI: 10.1016/j.jobcr.2018.05.004
    The case reported here highlights the importance of examination of functional occlusion along with static occlusion. Any undetected malocclusion during early mixed dentition has potency to alter the growth and function of stomatognathic system. Premature contacts in primary canine region is the most prevalent cause of functional mandibular shift and can lead to TMJ problems for the prevalence of self correction of such malocclusion is very low if not intervened. A case of functional mandibular shift due to faulty canine guidance because of premature contacts is discussed here. Selective grinding of premature contacts and myofunctional exercise resulted in well balanced centric occlusion coinciding with centric relation.
    MeSH terms: Animals; Biological Phenomena; Dental Occlusion; Dental Occlusion, Centric; Dentition, Mixed; Dogs; Malocclusion; Stomatognathic System; Temporomandibular Joint; Prevalence; Centric Relation
  15. Shaw T, Ishak D, Lie D, Menon S, Courtney E, Li ST, et al.
    Psychooncology, 2018 12;27(12):2855-2861.
    PMID: 30264524 DOI: 10.1002/pon.4902
    OBJECTIVE: Malays comprise an Asian cultural group reported to have low breast cancer screening uptake rates and poor cancer outcomes. Little is known about Malay cultural factors influencing beliefs and practice of cancer screening and genetic testing. Our study aims to explore health beliefs of Malay women around breast cancer screening and genetic testing.

    METHODS: We conducted focus groups among healthy English-speaking Malay women in Singapore, aged 40 to 69 years, using a structured guide developed through literature review, expertise input and participant refinement. Thematic analysis was conducted to extract dominant themes representing key motivators and barriers to screening and genetic testing. We used grounded theory to interpret results and derive a framework of understanding, with implications for improving uptake of services.

    RESULTS: Five focus groups (four to six participants per group) comprising 27 women were conducted to theme saturation. Major themes were (a) spiritual and religious beliefs act as barriers towards uptake of screening and genetic testing; (b) preference for traditional medicine competes with Western medicine recommendations; (c) family and community influence health-related decisions, complexed by differences in intergenerational beliefs creating contrasting attitudes towards screening and prevention.

    CONCLUSIONS: Decisions to participate in breast cancer screening and genetic testing are influenced by cultural, traditional, spiritual/religious, and intergenerational beliefs. Strategies to increase uptake should include acknowledgement and integration of these beliefs into counseling and education and collaboration with key influential Malay stakeholders and leaders.

    MeSH terms: Adult; Aged; Attitude to Health/ethnology*; Breast Neoplasms/ethnology; Breast Neoplasms/prevention & control*; Breast Neoplasms/psychology; Cultural Characteristics*; Decision Making; Female; Genetic Counseling/psychology*; Genetic Testing/methods*; Humans; Health Knowledge, Attitudes, Practice/ethnology*; Malaysia; Middle Aged; Patient Acceptance of Health Care/ethnology*; Singapore; Focus Groups; Qualitative Research; Asian Continental Ancestry Group/psychology*; Asian Continental Ancestry Group/statistics & numerical data; Early Detection of Cancer/psychology; Early Detection of Cancer/statistics & numerical data*
  16. Narayanan SN, Kumar RS
    Acta. Biol. Hung., 2018 Dec;69(4):371-384.
    PMID: 30587025 DOI: 10.1556/018.69.2018.4.1
    In the behavioral science field, many of the oldest tests have still most frequently been used almost in the same way for decades. The subjective influence of human observer and the large inter-observer and interlab differences are substantial among these tests. This necessitates the possibility of using technological innovations for behavioral science to obtain new parameters, results and insights as well. The light-dark box (LDB) test is a characteristic tool used to assess anxiety in rodents. A complete behavioral analysis (including both anxiety and locomotion parameters) is not possible by performing traditional LDB test protocol, as it lacks the usage of a real-time video recording of the test. In the current report, we describe an improved approach to conduct LDB test using a real-time video tracking system.
    MeSH terms: Animals; Anxiety/physiopathology; Anxiety/psychology*; Behavior, Animal*; Darkness*; Disease Models, Animal; Light*; Locomotion*; Male; Motor Activity*; Time Factors; Video Recording/methods*; Reproducibility of Results; Rats, Wistar; Photoperiod*; Maze Learning
  17. McKay E, Mohamad MB
    PMID: 31186813 DOI: 10.1186/s41039-018-0074-z
    [This corrects the article DOI: 10.1186/s41039-018-0071-2.].
    MeSH terms: Humans
  18. MeSH terms: Cardiology; Humans; Hypertension; Malaysia; Guidelines as Topic
  19. MeSH terms: Cardiology; Coronary Disease; Humans; Malaysia; Myocardial Infarction; Guidelines as Topic; Angina, Stable
  20. ISBN: 978-967-16406-0-9
    MeSH terms: Humans; Malaysia; Guidelines as Topic; Antibiotic Prophylaxis
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