Displaying publications 1 - 20 of 37 in total

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  1. Taha H, Looi CY, Arya A, Wong WF, Yap LF, Hasanpourghadi M, et al.
    PLoS One, 2015;10(5):e0126126.
    PMID: 25946039 DOI: 10.1371/journal.pone.0126126
    Phytochemicals from Pseuduvaria species have been reported to display a wide range of biological activities. In the present study, a known benzopyran derivative, (6E,10E) isopolycerasoidol (1), and a new benzopyran derivative, (6E,10E) isopolycerasoidol methyl ester (2), were isolated from a methanol extract of Pseuduvaria monticola leaves. The structures of the isolated compounds were elucidated by spectroscopic methods including 1D and 2D NMR, IR, UV, and LCMS-QTOF, and by comparison with previously published data. The anti-proliferative and cytotoxic effects of these compounds on human breast cancer cell-lines (MCF-7 and MDA-MB-231) and a human normal breast epithelial cell line (MCF-10A) were investigated. MTT results revealed both (1) and (2) were efficient in reducing cell viability of breast cancer cells. Flow cytometry analysis demonstrated that (1) and (2) induced cell death via apoptosis, as demonstrated by an increase in phosphotidylserine exposure. Both compounds elevated ROS production, leading to reduced mitochondrial membrane potential and increased plasma membrane permeability in breast cancer cells. These effects occurred concomitantly with a dose-dependent activation of caspase 3/7 and 9, a down-regulation of the anti-apoptotic gene BCL2 and the accumulation of p38 MAPK in the nucleus. Taken together, our data demonstrate that (1) and (2) induce intrinsic mitochondrial-mediated apoptosis in human breast cancer cells, which provides the first pharmacological evidence for their future development as anticancer agents.
  2. Acar Y, Tezel O, Salman N, Cevik E, Algaba-Montes M, Oviedo-García A, et al.
    Crit Ultrasound J, 2016 Sep;8(Suppl 1):12.
    PMID: 27604617 DOI: 10.1186/s13089-016-0046-8
    TABLE OF CONTENTS: A1 Point-of-care ultrasound examination of cervical spine in emergency departmentYahya Acar, Onur Tezel, Necati SalmanA2 A new technique in verifying the placement of a nasogastric tube: obtaining the longitudinal view of nasogastric tube in addition to transverse view with ultrasoundYahya Acar, Necati Salman, Onur Tezel, Erdem CevikA3 Pseudoaneurysm of the femoral artery after cannulation of a central venous line. Should we always use ultrasound in these procedures?Margarita Algaba-Montes, Alberto Oviedo-García, Mayra Patricio-BordomásA4 Ultrasound-guided supraclavicular subclavian vein catheterization. A novel approach in emergency departmentMargarita Algaba-Montes, Alberto Oviedo-García, Mayra Patricio-BordomásA5 Clinical ultrasound in a septic and jaundice patient in the emergency departmentMargarita Algaba-Montes, Alberto Oviedo-García, Mayra Patricio-BordomásA6 Characterization of the eyes in preoperative cataract Saudi patients by using medical diagnostic ultrasoundMustafa Z. Mahmoud, Abdelmoneim SuliemanA7 High-frequency ultrasound in determining the causes of acute shoulder joint painMustafa Z. MahmoudA8 Teaching WINFOCUS Ultrasound Life Support Basic Level 1 for Providers in resource-limited countriesAbbas Ali, Alrayah Mustafa, Ihab Abdelrahman, Mustafa Bahar, Osama Ali, H. Lester Kirchner, Gregor ProsenA9 Changes of arterial stiffness and endothelial function during uncomplicated pregnancyAjda Anzic, Paul LeesonA10 Cardiovascular haemodynamic properties before, during and after pregnancyAjda Anzic, Paul LeesonA11 An old man with generalized weaknessMaryam Bahreini, Fatemeh RasooliA12 Ultrasonography for non-specific presentations of abdominal painMaryam Bahreini, Houman HosseinnejadA13 Introduction of a new imaging guideline for suspected renal colic in the emergency department: effect on CT Urogram utilisationGabriel Blecher, Robert Meek, Diana Egerton-WarburtonA14 Transabdominal ultrasound screening for pancreatic cancer in Croatian military veterans: a retrospective analysis from the first Croatian veteran's hospitalEdina Ćatić Ćuti, Stanko Belina, Tihomir Vančina, Idriz KovačevićA15 The challenge of AAA: unusual case of obstructive jaundiceEdina Ćatić Ćuti, Nadan RustemovićA16 Educational effectiveness of easy-made new simulator model for ultrasound-guided procedures in pediatric patients: vascular access and foreign body managementIkwan Chang, Jin Hee Lee, Young Ho Kwak, Do Kyun KimA17 Detection of uterine rupture by point-of-care ultrasound at emergency department: a case reportChi-Yung Cheng, Hsiu-Yung Pan, Chia-Te KungA18 Abdominal probe in the hands of interns as a relevant diagnostic tool in revealing the cause of heart failureEla Ćurčić, Ena Pritišanac, Ivo Planinc, Marijana Grgić Medić, Radovan RadonićA19 Needs assessment of the potential utility of point-of-care ultrasound within the Zanzibar health systemAbiola Fasina, Anthony J. Dean, Nova L. Panebianco, Patricia S. HenwoodA20 Ultrasonographic diagnosis of tracheal compressionOliviero Fochi, Moreno Favarato, Ezio BonanomiA21 The role of ultrasound in the detection of lung infiltrates in critically ill patients: a pilot studyMarijana Grgić Medić, Ivan Tomić, Radovan RadonićA22 The SAFER Lasso; a novel approach using point-of-care ultrasound to evaluate patients with abdominal complaints in the emergency departmentYoungrock Ha, Hongchuen TohA23 Awareness and use of clinician-performed ultrasound among clinical clerkship facultyElizabeth Harmon, Wilma Chan, Cameron Baston, Gail Morrison, Frances Shofer, Nova Panebianco, Anthony J. DeanA24 Clinical outcomes in the use of lung ultrasound for the diagnosis of pediatric pneumoniasAngela Hua, Sharon Kim, James TsungA25 Effectiveness of ultrasound in hypotensive patientsIsa Gunaydin, Zeynep Kekec, Mehmet Oguzhan AyA26 Moderate-to-severe left ventricular ejection fraction related to short-term mortality of patients with post-cardiac arrest syndrome after out-of-hospital cardiac arrestJinjoo Kim, Jinhyun Kim, Gyoosung Choi, Dowon ShimA27 Usefulness of abdominal ultrasound for acute pyelonephritis diagnosis after kidney transplantationJi-Han LeeA28 Lung ultrasound for assessing fluid tolerance in severe preeclampsiaJana Ambrozic, Katja Prokselj, Miha LucovnikA29 Optic nerve sheath ultrasound in severe preeclampsiaGabrijela Brzan Simenc, Jana Ambrozic, Miha LucovnikA30 Focused echocardiography monitoring in the postoperative period for non-cardiac patientsAsta Mačiulienė, Almantas Maleckas, Algimantas Kriščiukaitis, Vytautas Mačiulis, Andrius MacasA31 POCUS-guided paediatric upper limb fracture reduction: algorithm, tricks, and tipsSharad MohiteA32 Point-of-care lung ultrasound: a good diagnostic tool for pneumonia in a septic patientZoltan Narancsik, Hugon MožinaA33 A case of undergraduate POCUS (r)evolutionSara Nikolić, Jan Hansel, Rok Petrovčič, Una Mršić, Gregor ProsenA34 The Graz Summer School for ultrasound: from first contact to bedside application: three-and-a-half-day undergraduate ultrasound training: résumé after two years of continuous developmentSimon Orlob, Markus Lerchbaumer, Niklas Schönegger, Reinhard KaufmannA35 Usefulness of point-of-care ultrasound in the emergency room in a patient with acute abdominal painAlberto Oviedo-García, Margarita Algaba-Montes, Mayra Patricio-BordomásA36 Use of bedside ultrasound in a critically ill patient. A case reportAlberto Oviedo-García, Margarita Algaba-Montes, Mayra Patricio-BordomásA37 Diagnostic yield of clinical echocardiography for the emergency physicianAlberto Oviedo-García, Margarita Algaba-Montes, Mayra Patricio-BordomásA38 Focused cardiac ultrasound in early diagnosis of type A aortic dissection with atypical presentationChun-I Pan, Hsiu-Yung Pan, Chien-Hung WuA39 Detection of imperforated hymen by point-of-care ultrasoundHsiu-yung Pan, Chia-Te KungA40 Developing a point-of-care ultrasound curriculum for pediatric nurse practitioners practicing in the pediatric emergency departmentSarah Pasquale, Stephanie J. Doniger, Sharon Yellin, Gerardo ChiricoloA41 Use of transthoracic echocardiography in emergency setting: patient with mitral valve abscessMaja Potisek, Borut Drnovšek, Boštjan LeskovarA42 A young man with syncopeFatemeh Rasooli, Maryam BahreiniA43 Work-related repetitive use injuries in ultrasound fellowsKristine Robinson, Clara Kraft, Benjamin Moser, Stephen Davis, Shelley Layman, Yusef Sayeed, Joseph MinardiA44 Lung ultrasonography in the evaluation of pneumonia in childrenIrmina Sefic Pasic, Amra Dzananovic, Anes Pasic, Sandra Vegar ZubovicA45 Central venous catheter placement with the ultrasound aid: two years' experience of the Interventional unit, Division of Intensive Care Medicine, KBC ZagrebAna Godan Hauptman, Marijana Grgic Medic, Ivan Tomic, Ana Vujaklija Brajkovic, Jaksa Babel, Marina Peklic, Radovan RadonicA46 Duplicitas casui: two patients admitted due to acute liver failureVedran Radonic, Ivan Tomic, Luka Bielen, Marijana Grgic MedicA47 A pilot survey on an understanding of Bedside Point-of-Care Ultrasound (POCUS) among medical doctors in internal medicine: exposure, perceptions, interest, and barriers to trainingPeh Wee MingA48 Unusual case of defecation syncopeNur hafiza Yezid, Fatahul Laham MohammedA49 A case report of massive pulmonary embolism; a multidisciplinary approachZainal Abidin Huda, Wan Nasarudin Wan Ismail, W.Yus Haniff W.Isa, Hashairi Fauzi, Praveena Seeva, Mohd Zulfakar Mazlan.
  3. Hasan MZ, Kamil AA, Mustafa A, Baten MA
    PLoS One, 2012;7(8):e42215.
    PMID: 22900009 DOI: 10.1371/journal.pone.0042215
    Banking system plays an important role in the economic development of any country. Domestic banks, which are the main components of the banking system, have to be efficient; otherwise, they may create obstacle in the process of development in any economy. This study examines the technical efficiency of the Malaysian domestic banks listed in the Kuala Lumpur Stock Exchange (KLSE) market over the period 2005-2010. A parametric approach, Stochastic Frontier Approach (SFA), is used in this analysis. The findings show that Malaysian domestic banks have exhibited an average overall efficiency of 94 percent, implying that sample banks have wasted an average of 6 percent of their inputs. Among the banks, RHBCAP is found to be highly efficient with a score of 0.986 and PBBANK is noted to have the lowest efficiency with a score of 0.918. The results also show that the level of efficiency has increased during the period of study, and that the technical efficiency effect has fluctuated considerably over time.
  4. Khalid R, Nawawi MK, Kawsar LA, Ghani NA, Kamil AA, Mustafa A
    PLoS One, 2013;8(4):e58402.
    PMID: 23560037 DOI: 10.1371/journal.pone.0058402
    M/G/C/C state dependent queuing networks consider service rates as a function of the number of residing entities (e.g., pedestrians, vehicles, and products). However, modeling such dynamic rates is not supported in modern Discrete Simulation System (DES) software. We designed an approach to cater this limitation and used it to construct the M/G/C/C state-dependent queuing model in Arena software. Using the model, we have evaluated and analyzed the impacts of various arrival rates to the throughput, the blocking probability, the expected service time and the expected number of entities in a complex network topology. Results indicated that there is a range of arrival rates for each network where the simulation results fluctuate drastically across replications and this causes the simulation results and analytical results exhibit discrepancies. Detail results that show how tally the simulation results and the analytical results in both abstract and graphical forms and some scientific justifications for these have been documented and discussed.
  5. Rahman K, Abdul Ghani N, Kamil AA, Mustafa A, Chowdhury MA
    PLoS One, 2015;10(7):e0133229.
    PMID: 26196124 DOI: 10.1371/journal.pone.0133229
    Pedestrian overflow causes queuing delay and in turn, is controlled by the capacity of a facility. Flow control or blocking control takes action to avoid queues from building up to extreme values. Thus, in this paper, the problem of pedestrian flow control in open outdoor walking facilities in equilibrium condition is investigated using M/M/c/K queuing models. State dependent service rate based on speed and density relationship is utilized. The effective rate of the Poisson arrival process to the facility is determined so as there is no overflow of pedestrians. In addition, the use of the state dependent queuing models to the design of the facilities and the effect of pedestrian personal capacity on the design and the traffic congestion are discussed. The study does not validate the sustainability of adaptation of Western design codes for the pedestrian facilities in the countries like Bangladesh.
  6. Chik Z, Haron DE, Ahmad ED, Taha H, Mustafa AM
    PMID: 21607892 DOI: 10.1080/19440049.2011.576401
    Migration of melamine has been determined for 41 types of retail melamine-ware products in Malaysia. This study was initiated by the Ministry of Health, Malaysia, in the midst of public anxiety on the possibility of melamine leaching into foods that come into contact with the melamine-ware. Thus, the objective of this study was to investigate the level of melamine migration in melamine utensils available on the market. Samples of melamine tableware, including cups and plates, forks and spoons, tumblers, bowls, etc., were collected from various retail outlets. Following the test guidelines for melamine migration set by the European Committee for Standardisation (CEN 2004) with some modifications, the samples were exposed to two types of food simulants (3% acetic acid and distilled water) at three test conditions (25°C (room temperature), 70 and 100°C) for 30 min. Melamine analysis was carried out using LC-MS/MS with a HILIC column and mobile phase consisting of ammonium acetate/formic acid (0.05%) in water and ammonium acetate/formic acid (0.05%) in acetonitrile (95 : 5, v/v). The limit of quantification (LOQ) was 5 ng/ml. Melamine migration was detected from all samples. For the articles tested with distilled water, melamine migration were [median (interquartile range)] 22.2 (32.6), 49.3 (50.9), 84.9 (89.9) ng/ml at room temperature (25°C), 70 and 100°C, respectively. In 3% acetic acid, melamine migration was 31.5 (35.7), 81.5 (76.2), 122.0 (126.7) ng/ml at room temperature (25°C), 70 and 100°C, respectively. This study suggests that excessive heat and acidity may directly affect melamine migration from melamine-ware products. However the results showed that melamine migration in the tested items were well below the specific migration limit (SML) of 30 mg/kg (30,000 ng/ml) set out in European Commission Directive 2002/72/EC.
  7. Hossain KA, Mohd-Jaafar MN, Appalanidu KB, Mustafa A, Ani FN
    Environ Technol, 2005 Mar;26(3):251-9.
    PMID: 15881021
    Selective Non-Catalytic Reduction (SNCR) of nitric oxide has been studied experimentally by injecting aqueous urea solution with and without additive in a pilot-scale diesel fired tunnel furnace at 3.4% excess oxygen level and with low ppm of baseline NO(x) ranging from 65 to 75 ppm within the investigated temperature range. The tests have been carried out using commercial grade urea as NO(x) reducing agent and commercial grade sodium carbonate as additive. The furnace simulated the small-scale combustion systems, where the operating temperatures are usually in the range of about 973 to 1323 K and NO(x) emission level remains below 100 ppm. With 5% plain urea solution, at Normalized Stoichiometric Ratio (NSR) of 4 as much as 54% reduction was achieved at 1128 K, whilst in the additive case the NO(x) reduction was improved to as much as 69% at 1093 K. Apart from this improvement, in the additive case, the effective temperature window as well as peak temperature of NO(x) reduction shifted towards lower temperatures. The result is quite significant, especially for this investigated level of baseline NO(x). The ammonia slip measurements showed that in both cases the slip was below 16 ppm at NSR of 4 and optimum temperature of NO(x) reduction. Finally, the investigations demonstrated that urea based SNCR is quite applicable to small-scale combustion applications and commercial grade sodium carbonate is a potential additive.
  8. Yusof MSM, Othman MHD, Wahab RA, Jumbri K, Razak FIA, Kurniawan TA, et al.
    J Hazard Mater, 2020 02 05;383:121214.
    PMID: 31546216 DOI: 10.1016/j.jhazmat.2019.121214
    The contribution of palm oil fuel ash (POFA), an agricultural waste as a low cost adsorbent for the removal of arsenite (As(III)) and arsenate (As(V)) was explored. Investigation on the adsorbency characteristics of POFA suspension revealed that the surface area, particle size, composition, and crystallinity of the SiO2 rich mullite structure were the crucial factors in ensuring a high adsorption capacity of the ions. Maximum adsorption capacities of As(III) and As(V) at 91.2 and 99.4 mg g-1, respectively, were obtained when POFA of 30 μm particle size was employed at pH 3 with the highest calcination temperature at 1150 °C. An optimum dosage of 1.0 g of dried POFA powder successfully removed 48.7% and 50.2% of As(III) and As(V), respectively. Molecular modeling using the density functional theory consequently identified the energy for the proposed reaction routes between the SiO- and As+ species. The high stability of the POFA suspension in water in conjunction with good adsorption capacity of As(III) and As(V) seen in this study, thus envisages its feasibility as a potential alternative absorbent for the remediation of water polluted with heavy metals.
  9. Parashar UD, Sunn LM, Ong F, Mounts AW, Arif MT, Ksiazek TG, et al.
    J Infect Dis, 2000 May;181(5):1755-9.
    PMID: 10823779
    An outbreak of encephalitis affecting 265 patients (105 fatally) occurred during 1998-1999 in Malaysia and was linked to a new paramyxovirus, Nipah, that infected pigs, humans, dogs, and cats. Most patients were pig farmers. Clinically undetected Nipah infection was noted in 10 (6%) of 166 community-farm controls (persons from farms without reported encephalitis patients) and 20 (11%) of 178 case-farm controls (persons from farms with encephalitis patients). Case patients (persons with Nipah infection) were more likely than community-farm controls to report increased numbers of sick/dying pigs on the farm (59% vs. 24%, P=.001) and were more likely than case-farm controls to perform activities requiring direct contact with pigs (86% vs. 50%, P=.005). Only 8% of case patients reported no contact with pigs. The outbreak stopped after pigs in the affected areas were slaughtered and buried. Direct, close contact with pigs was the primary source of human Nipah infection, but other sources, such as infected dogs and cats, cannot be excluded.
  10. Gurmeet K, Rosnah I, Normadiah MK, Das S, Mustafa AM
    EXCLI J, 2014;13:151-60.
    PMID: 26417249
    Bisphenol A (BPA) is widely used in manufacturing industries. It is commonly detected in the environment and was reported to exert oestrogenic effects which may be harmful to the reproductive system. The present study was carried out to observe the effects of oral administration of BPA on the development of the reproductive organs and plasma sex hormone levels in prepubertal male Sprague-Dawley (SD) rats. Prepubertal male SD rats (n=8 in each group) were administered BPA in the doses of 1, 5, 10 and 100 mg/kg BW (body weight) via oral gavage for a period of 6 weeks. The control animals received the vehicle for BPA (Tween 80 in distilled water). Following 6 weeks of BPA exposure, the rats exhibited less evidence of spermatogenesis. There was seminiferous epithelial damage which included disruption of intercellular junctions and sloughing of germ cells into the seminiferous tubular lumen. Furthermore, the lumina of the seminiferous tubules and the epididymis of these animals were filled with immature germ cells and cellular debris. This damage may lead to the significant reduction in the seminiferous tubular diameter in BPA-treated animals. These findings were associated with the significant lower plasma testosterone and 17β-oestradiol levels. There was no significant difference between the body weight gain, the absolute as well as relative testis weight or epididymal weight of BPA-treated animals when compared to the control animals. The findings provided further evidence of the detrimental effects of BPA on the male reproductive system.
  11. Zainal Abidin NA, Arith F, Noorasid NS, Sarkawi H, Mustafa AN, Safie NE, et al.
    RSC Adv, 2023 Nov 16;13(48):33797-33819.
    PMID: 38020037 DOI: 10.1039/d3ra04823c
    The conventional electron transport layer (ETL) TiO2 has been widely used in perovskite solar cells (PSCs), which have produced exceptional power conversion efficiencies (PCE), allowing the technology to be highly regarded and propitious. Nevertheless, the recent high demand for energy harvesters in wearable electronics, aerospace, and building integration has led to the need for flexible solar cells. However, the conventional TiO2 ETL layer is less preferred, where a crystallization process at a temperature as high as 450 °C is required, which degrades the plastic substrate. Zinc oxide nanorods (ZnO NRs) as a simple and low-cost fabrication material may fulfil the need as an ETL, but they still suffer from low PCE due to atomic defect vacancy. To delve into the issue, several dopants have been reviewed as an additive to passivate or substitute the Zn2+ vacancies, thus enhancing the charge transport mechanism. This work thereby unravels and provides a clear insight into dopant engineering in ZnO NRs ETL for PSC.
  12. Mustafa A, Lung CY, Mustafa NS, Mustafa BA, Kashmoola MA, Zwahlen RA, et al.
    Clin Oral Implants Res, 2016 Mar;27(3):303-9.
    PMID: 25393376 DOI: 10.1111/clr.12525
    OBJECTIVES: To investigate the effect of eicosapentaenoic acid (EPA)-coated Ti implants on osteoconduction in white New Zealand rabbit mandibles.

    MATERIAL AND METHODS: Sandblasted and cleansed planar titanium specimens with a size of 5 × 5 × 1 mm were coated on one side with 0.25 vol% eicosapentaenoic acid (EPA). The other side of the specimens was kept highly polished (the control side). These specimens were inserted in rabbit mandibles. Twelve rabbits were randomly assigned into three study groups (n = 4). The rabbits were sacrificed at 4, 8, and 12 weeks. The harvested specimens with the implants were assessed for new bone formation on both sides of the implant using CBCT, conventional radiographs, and the biaxial pullout test. The results were statistically analyzed by a nonparametric Kruskal-Wallis test and Friedman's test as multiple comparisons and by Brunner-Langer nonparametric mixed model approach (R Software).

    RESULTS: A significant osteoconductive bone formation was found on the EPA-coated Ti implant surface (P < 0.05) at 8 weeks when compared to the polished surface (control). Biaxial pullout test results showed a significant difference (P < 0.05) after 8 and 12 weeks with a maximum force of 243.8 N, compared to 143.25 N after 4 week.

    CONCLUSION: EPA implant coating promoted osteoconduction on the Ti implant surfaces, enhancing the anchorage of the implant to the surrounding bone in white New Zealand rabbits.

  13. Lang CC, Jamal SK, Mohamed Z, Mustafa MR, Mustafa AM, Lee TC
    Br J Clin Pharmacol, 2003 Jun;55(6):588-90.
    PMID: 12814453
    AIMS: Nafcillin (Wyeth Laboratories, Philadelphia, PA, USA) has been reported to induce the metabolism of cyclosporin and warfarin, which are known substrates of cytochrome P-450 (CYP). However, there has not been any report to date on its possible interaction with nifedipine, an index substrate of the enzyme, CYP3A4.

    METHODS: Nine healthy normotensive subjects participated in this randomized placebo-controlled two-way crossover study examining the effects of 5 days' pretreatment of nafcillin 500 mg or placebo four times daily on the pharmacokinetics of an oral dose of nifedipine 10 mg. Plasma nifedipine concentrations were measured by gas chromatography-mass spectro.

    RESULTS: The area under the plasma nifedipine concentration-time curve (AUC0-alpha) in nafcillin-pretreated subjects (80.9 +/- 32.9 micro g l-1 h-1) was significantly decreased compared with subjects who received only nifedipine (216.4 +/- 93.2 micro g l-1 h-1) (P < 0.001). Total plasma clearance of nifedipine (CL/F) was significantly increased with nafcillin pretreatment (138.5 +/- 42.0 l h-1 vs 56.5 +/- 32.0 l h-1) (P < 0.002).

    CONCLUSIONS: The results show that nafcillin pretreatment markedly increased the clearance of nifedipine and suggest that nafcillin is a potent inducer of CYP enzyme.

  14. Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, et al.
    Genet Med, 2018 12;20(12):1609-1616.
    PMID: 29620724 DOI: 10.1038/gim.2018.50
    PURPOSE: To describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized.

    METHODS: Detailed phenotyping and next-generation sequencing (panel and exome).

    RESULTS: Our analysis revealed 224 pathogenic/likely pathogenic variants (54 (24%) of which are novel) in 123 genes with established or tentative links to skeletal dysplasia. In addition, we propose 5 genes as candidate disease genes with suggestive biological links (WNT3A, SUCO, RIN1, DIP2C, and PAN2). Phenotypically, we note that our cohort spans 36 established phenotypic categories by the International Skeletal Dysplasia Nosology, as well as 18 novel skeletal dysplasia phenotypes that could not be classified under these categories, e.g., the novel C3orf17-related skeletal dysplasia. We also describe novel phenotypic aspects of well-known disease genes, e.g., PGAP3-related Toriello-Carey syndrome-like phenotype. We note a strong founder effect for many genes in our cohort, which allowed us to calculate a minimum disease burden for the autosomal recessive forms of skeletal dysplasia in our population (7.16E-04), which is much higher than the global average.

    CONCLUSION: By expanding the phenotypic, allelic, and locus heterogeneity of skeletal dysplasia in humans, we hope our study will improve the diagnostic rate of patients with these conditions.

  15. Yusof MSM, Othman MHD, Mustafa A, Rahman MA, Jaafar J, Ismail AF
    Environ Sci Pollut Res Int, 2018 Aug;25(22):21644-21655.
    PMID: 29785602 DOI: 10.1007/s11356-018-2286-6
    Palm oil fuel ash (POFA) is an agricultural waste which was employed in this study to produce novel adsorptive ceramic hollow fibre membranes. The membranes were fabricated using phase inversion-based extrusion technique and sintered at 1150 °C. The membranes were then evaluated on their ability to adsorb cadmium (Cd(II)). These membranes were characterised using (nitrogen) N2 adsorption-desorption analysis, field emission scanning electron microscopy-energy-dispersive X-ray spectroscopy (FESEM-EDX) mapping, X-ray fluorescence (XRF), X-ray diffraction (XRD), and Fourier transform infrared spectroscopy (FTIR) analyses while adsorptivity activity was examined by batch adsorption studies. The adsorption test results show that the quantity of hollow fibre used and water pH level significantly affected the adsorption performance with the 3-fibre membrane yielding 96.4% Cd(II) removal in 30 min equilibrium time at pH 7. These results are comparable to those reported by other studies, and hence demonstrate a promising alternative of low-cost hollow fibre adsorbent membrane. Graphical abstract Figure of FESEM image of the hollow fibre, proposed mechanism and the graph of percentage removal of Cd(II) using POFA.
  16. Alshagga MA, Mohamed N, Nazrun Suhid A, Abdel Aziz Ibrahim I, Zulkifli Syed Zakaria S
    Arch Med Sci, 2011 Aug;7(4):572-8.
    PMID: 22291790 DOI: 10.5114/aoms.2011.24123
    Glutathione S-transferase (GST) is a xenobiotic metabolising enzyme (XME), which may modify susceptibility in certain ethnic groups, showing ethnic dependent polymorphism. The aim of this study was to determine GSTM1, GSTM3 and GSTT1 gene polymorphisms in a Malaysian population in Kuala Lumpur.
  17. Pang YS, Yang YS, Wong LP, Lee TC, Mustafa AM, Mohamed Z, et al.
    Br J Clin Pharmacol, 2004 Sep;58(3):332-5.
    PMID: 15327595
    Impaired S-mephenytoin 4'-hydroxylation is a well-described genetic polymorphism affecting drug metabolism in humans. Although ethnic differences in its distribution of polymorphism has been described, it is not known whether there is an ethnic heterogeneity of the structure and expression of the CYP2C19 enzyme in the Malaysian population.
  18. Rambhatla A, Shah R, Ziouziou I, Kothari P, Salvio G, Gul M, et al.
    World J Mens Health, 2024 Apr 04.
    PMID: 38606867 DOI: 10.5534/wjmh.230339
    PURPOSE: Non-obstructive azoospermia (NOA) is a common, but complex problem, with multiple therapeutic options and a lack of clear guidelines. Hence, there is considerable controversy and marked variation in the management of NOA. This survey evaluates contemporary global practices related to medical and surgical management for patients with NOA.

    MATERIALS AND METHODS: A 56-question online survey covering various aspects of the evaluation and management of NOA was sent to specialists around the globe. This paper analyzes the results of the second half of the survey dealing with the management of NOA. Results have been compared to current guidelines, and expert recommendations have been provided using a Delphi process.

    RESULTS: Participants from 49 countries submitted 336 valid responses. Hormonal therapy for 3 to 6 months was suggested before surgical sperm retrieval (SSR) by 29.6% and 23.6% of participants for normogonadotropic hypogonadism and hypergonadotropic hypogonadism respectively. The SSR rate was reported as 50.0% by 26.0% to 50.0% of participants. Interestingly, 46.0% reported successful SSR in <10% of men with Klinefelter syndrome and 41.3% routinely recommended preimplantation genetic testing. Varicocele repair prior to SSR is recommended by 57.7%. Half of the respondents (57.4%) reported using ultrasound to identify the most vascularized areas in the testis for SSR. One-third proceed directly to microdissection testicular sperm extraction (mTESE) in every case of NOA while others use a staged approach. After a failed conventional TESE, 23.8% wait for 3 months, while 33.1% wait for 6 months before proceeding to mTESE. The cut-off of follicle-stimulating hormone for positive SSR was reported to be 12-19 IU/mL by 22.5% of participants and 20-40 IU/mL by 27.8%, while 31.8% reported no upper limit.

    CONCLUSIONS: This is the largest survey to date on the real-world medical and surgical management of NOA by reproductive experts. It demonstrates a diverse practice pattern and highlights the need for evidence-based international consensus guidelines.

  19. Shah R, Rambhatla A, Atmoko W, Martinez M, Ziouziou I, Kothari P, et al.
    World J Mens Health, 2024 Apr 03.
    PMID: 38606865 DOI: 10.5534/wjmh.230333
    PURPOSE: Non-obstructive azoospermia (NOA) represents the persistent absence of sperm in ejaculate without obstruction, stemming from diverse disease processes. This survey explores global practices in NOA diagnosis, comparing them with guidelines and offering expert recommendations.

    MATERIALS AND METHODS: A 56-item questionnaire survey on NOA diagnosis and management was conducted globally from July to September 2022. This paper focuses on part 1, evaluating NOA diagnosis. Data from 367 participants across 49 countries were analyzed descriptively, with a Delphi process used for expert recommendations.

    RESULTS: Of 336 eligible responses, most participants were experienced attending physicians (70.93%). To diagnose azoospermia definitively, 81.7% requested two semen samples. Commonly ordered hormone tests included serum follicle-stimulating hormone (FSH) (97.0%), total testosterone (92.9%), and luteinizing hormone (86.9%). Genetic testing was requested by 66.6%, with karyotype analysis (86.2%) and Y chromosome microdeletions (88.3%) prevalent. Diagnostic testicular biopsy, distinguishing obstructive azoospermia (OA) from NOA, was not performed by 45.1%, while 34.6% did it selectively. Differentiation relied on physical examination (76.1%), serum hormone profiles (69.6%), and semen tests (68.1%). Expectations of finding sperm surgically were higher in men with normal FSH, larger testes, and a history of sperm in ejaculate.

    CONCLUSIONS: This expert survey, encompassing 367 participants from 49 countries, unveils congruence with recommended guidelines in NOA diagnosis. However, noteworthy disparities in practices suggest a need for evidence-based, international consensus guidelines to standardize NOA evaluation, addressing existing gaps in professional recommendations.

  20. Nimir, Amal R., Al-Dubai, Sami A. R., Alshagga, Mustafa A., Saliem, Ahmed M.
    MyJurnal
    Breast cancer is one of the most frequently encountered malignancies among young females in Malaysia, which accounts for 30.4% of newly diagnosed cancers. All women at or above the age of 20 are considered at risk of developing breast cancer. This is a cross-sectional study. The study was conducted in a private medical university in Malaysia during year 2012. Two hundred students were recruited in this study using universal sampling. Data collection was done using a selfadministration questionnaire. Chi-square test was used to assess the association between the practice of breast selfexamination and socio-demographic variables. Only 19.5% of the study sample has sufficient knowledge about BSE which is acquired mostly from local media. Having a family history of malignancy other than breast cancer seems to be the only significant variable associated with knowledge about BSE (P=0.002). Other variables such as demographic data, menstrual history and social history were also tested, but found to be not significant. Frequent community-based awareness programs are needed so that all women can know and practice BSE, which in turn helps to alert the women to any abnormal changes in the breasts so that they will be able to seek medical advice immediately.
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