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Fulltext Cri-du-chat syndrome: application of array cgh in diagnostic evaluation

Juriza, I., Sharifah Azween, S.O., Azli, I., Zarina, A.L., Mohd Fadly, M.A., Zubaidah, Z., et al.

Medicine & Health, 2010;5(2):108-113.
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The human genome contains many submicroscopic copy number variations which includes deletions, duplications and insertions. Although conventional karyotyping remains an important diagnostic tool in evaluating a dysmorphic patient with mental retardation, molecular diagnostic technology such as array comparative genomic hybridization (aCGH) has proven to be sensitive and reliable in detecting these submicroscopic anomalies. A 3 month-old infant with dysmorphic facies, microcephaly and global developmental delay was referred for genetic evaluation. Preliminary karyotyping which was confounded by the quality of metaphase spread was normal; however, aCGH detected a 30.6Mb deletion from 5p15.33-p13.3. This case illustrates the usefulness of aCGH as an adjunctive investigative tool for detecting chromosomal imbalances.
Fulltext Prevalence of human papillomavirus in abnormal cervical smears in Malaysian patients

Sharifah NA, Seeni A, Nurismah MI, Clarence-Ko CH, Hatta AZ, Ho NP, et al.

Asian Pac J Cancer Prev, 2009 Apr-Jun;10(2):303-6.
PMID: 19537900

Cervical cancer is the second most common female malignancy in Malaysia. Despite advances in treatment, the overall survival for this disease has not changed in the last decade. Infection by certain types of HPV is recognized as a causal and necessary factor for its development. This study was carried out to determine the prevalence of HPV infection in abnormal cervical smears in Malaysian patients using archival cervical smears retrieved from the Cytopathology Unit, Universiti Kebangsaan Malaysia Medical Centre (UKMMC) between the years 1992-1995. DNA was extracted from 38 abnormal smears comprising 25 intraepithelial lesions and 13 cervical carcinomas and 10 normal smears. Amplification of HPV genes was carried out using the polymerase chain reaction (PCR) technique. HPV genotypes were determined using direct sequencing and the results were compared to the database from Genebank. DNA was successfully extracted from all 48 cervical smears. High-risk HPV (HR-HPV) genotypes were detected in 95% of the abnormal smears. Eight high-risk oncogenic types were identified: 16, 18, 31, 51, 52, 56, 58 and 66. All (100%) cervical cancer smears showed presence of HR-HPV compared to 92% of the cervical intraepithelial lesions. Among the eight HR-HPV genotypes identified, HPV 16 and 52 were the commonest (23.7% each) HPV genotypes encountered and among the CIN lesions, HPV 16 (28%) was the most frequent. We conclude that HPV 16 is the most prevalent HPV genotype present in abnormal cervical smears in Malaysian patients, and that the use of archival material to assess the presence of HPV is potentially worthwhile, and can be utilized for longitudinal studies of HPV presence and persistence.
Household food waste conversion to biohydrogen via steam gasification over copper and nickel-loaded SBA-15 catalysts

Moogi S, Lam SS, Chen WH, Ko CH, Jung SC, Park YK

Bioresour Technol, 2022 Oct 30;366:128209.
PMID: 36323373 DOI: 10.1016/j.biortech.2022.128209

Household food waste (FW) was converted into biohydrogen-rich gas via steam gasification over Ni and bimetallic Ni (Cu-Ni and Co-Ni) catalysts supported on mesoporous SBA-15. The effect of catalyst method on steam gasification efficiency of each catalyst was investigated using incipient wetness impregnation, deposition precipitation, and ethylenediaminetetraacetic acid metal complex impregnation methods. H2-TPR confirmed the synergistic interaction of the dopants (Co and Cu) and Ni. Furthermore, XRD and HR-TEM revealed that the size of the Ni particle varied depending on the method of catalyst synthesis, confirming the formation of solid solutions in Co- or Cu-doped Ni/SBA-15 catalysts due to dopant insertion into the Ni. Notably, the exceptional activity of the Cu-Ni/SBA-15-EMC catalyst in FW steam gasification was attributed to the fine distribution of the concise Ni nanoparticles (9 nm), which resulted in the highest hydrogen selectivity (62 vol%), gas yield (73.6 wt%). Likewise, Cu-Ni solid solution decreased coke to 0.08 wt%.
C-erbB-2 onco-protein expression in breast cancer: relationship to tumour characteristics and short-term survival in Universiti Kebansaan Malaysia Medical Centre

Sharifah NA, Lee BR, Clarence-Ko CH, Tan GC, Shiran MS, Naqiyah I, et al.

Asian Pac J Cancer Prev, 2008 Oct-Dec;9(4):663-70.
PMID: 19271345

Breast cancer is the commonest cancer affecting females in Malaysia, contributing 31% of all newly diagnosed cases amongst Malaysian women. The present retrospective cohort study evaluated the relationship between cerbB- 2 onco-protein overexpression with various tumour characteristics and survival rate of breast cancer patients treated at the Universiti Kebangsaan Malaysia Medical Centre (UKMMC) between 1996-2000. CerbB- 2 oncoprotein overexpression was determined by immunohistochemistry (IHC) and tumors showing 2+ positivity were verified by Fluorescence In Situ Hybridization (FISH). One hundred and seventy two patients were eligible for the study with a short-term follow-up (median) of 5.1 years. C-erbB-2 oncoprotein overexpression correlated with lymph node positivity, oestrogen receptor (ER) and progesterone receptor (PR) negativity. Univariate analyses showed shorter disease free survival (DFS) and overall survival (OS) in patients with cerbB- 2 oncoprotein overexpression, Malay ethnicity, higher tumour grade, lymph node positivity, ER and PR negativity. In a subgroup of patients with c-erbB-2 oncoprotein overexpression, a shorter OS was observed in those with lymph node positivity, ER and PR negativity. In multivariate prognostic analysis, lymph node status, ER status and tumour grading were the strongest independent prognostic factors for both OS and DFS. However, c-erbB-2 status was not a significantly independent prognostic factor, even in subsets with lymph node positive or negative group. C-erbB-2 oncoprotein overexpression correlated well with lymph node status, ER and PR. Shorter OS and DFS were significantly observed in patients with c-erbB-2 oncoprotein overexpression. Lymph node status, ER status and tumour grading were the only three independent prognostic factors for OS and DFS in this study. Although c-erbB-2 expression is obviously important from a biological standpoint, multivariate analysis showed that it is not an independent prognostic indicator in breast carcinoma in the local population.
Effect of eggshell- and homo-type Ni/Al2O3 catalysts on the pyrolysis of food waste under CO2 atmosphere

Valizadeh S, Ko CH, Lee J, Lee SH, Yu YJ, Show PL, et al.

J Environ Manage, 2021 Sep 15;294:112959.
PMID: 34116308 DOI: 10.1016/j.jenvman.2021.112959

This study highlights the potential of pyrolysis of food waste (FW) with Ni-based catalysts under CO2 atmosphere as an environmentally benign disposal technique. FW was pyrolyzed with homo-type Ni/Al2O3 (Ni-HO) or eggshell-type Ni/Al2O3 (Ni-EG) catalysts under flowing CO2 (50 mL/min) at temperatures from 500 to 700 °C for 1 h. A higher gas yield (42.05 wt%) and a lower condensable yield (36.28 wt%) were achieved for catalytic pyrolysis with Ni-EG than with Ni-HO (34.94 wt% and 40.06 wt%, respectively). In particular, the maximum volumetric content of H2 (21.48%) and CO (28.43%) and the lowest content of C2-C4 (19.22%) were obtained using the Ni-EG. The formation of cyclic species (e.g., benzene derivatives) in bio-oil was also effectively suppressed (24.87%) when the Ni-EG catalyst and CO2 medium were concurrently utilized for the FW pyrolysis. Accordingly, the simultaneous use of the Ni-EG catalyst and CO2 contributed to altering the carbon distribution of the pyrolytic products from condensable species to value-added gaseous products by facilitating ring-opening reactions and free radical mechanisms. This study should suggest that CO2-assisted catalytic pyrolysis over the Ni-EG catalyst would be an eco-friendly and sustainable strategy for disposal of FW which also provides a clean and high-quality source of energy.
Hydrogen-rich gas production via steam gasification of food waste over basic oxides (MgO/CaO/SrO) promoted-Ni/Al2O3 catalysts

Moogi S, Jang SH, Rhee GH, Ko CH, Choi YJ, Lee SH, et al.

Chemosphere, 2022 Jan;287(Pt 2):132224.
PMID: 34826918 DOI: 10.1016/j.chemosphere.2021.132224

Food waste, a renewable resource, was converted to H2-rich gas via a catalytic steam gasification process. The effects of basic oxides (MgO, CaO, and SrO) with 10 wt% Ni/Al2O3 on the gasification properties of food waste were investigated using a U-shaped gasifier. All catalysts prepared by the precipitation method were analyzed by X-ray diffraction, H2-temperature-programmed reduction, NH3-temperature-programmed desorption, scanning electron microscopy, and energy-dispersive X-ray spectroscopy. The Ni/Al2O3 catalyst was reduced incompletely, and low nickel concentrations were detected on the surface of the alumina. The basic oxides minimized the number of acid sites and suppressed the formation of nickel-aluminate (NiAlxOy) phase in catalyst. In addition, the basic oxides shifted nickel-aluminate reduction reaction to lower temperatures. It resulted in enhancing nickel concentration on the catalyst surface and increasing gas yield and hydrogen selectivity. The low gas yield of the Ni/Al2O3 catalyst was attributed to the low nickel concentration on the surface. The maximum gas yield (66.0 wt%) and hydrogen selectivity (63.8 vol%) of the 10 wt% SrO- 10 wt% Ni/Al2O3 catalyst correlated with the highly dispersed nickel on the surface and low acidity. Furthermore, coke deposition during steam gasification varied with the surface acidity of the catalysts and less coke was formed on 10 wt% SrO- 10 wt% Ni/Al2O3 due to efficient tar cracking. This study showed that the steam gasification efficiency of the Ni/Al2O3 catalyst could be improved significantly by the addition of SrO.
Fluorescence in situ hybridization analysis using PAX8- and PPARG-specific probes reveals the presence of PAX8-PPARG translocation and 3p25 aneusomy in follicular thyroid neoplasms

Chia WK, Sharifah NA, Reena RM, Zubaidah Z, Clarence-Ko CH, Rohaizak M, et al.

Cancer Genet. Cytogenet., 2010 Jan 1;196(1):7-13.
PMID: 19963130 DOI: 10.1016/j.cancergencyto.2009.08.001

At the present time, the differentiation between follicular thyroid carcinoma (FTC) and adenoma can be made only postoperatively and is based on the presence of capsular or vascular invasion. The ability to differentiate preoperatively between the malignant and benign forms of follicular thyroid tumors assumes greater importance in any clinical setting. The PAX8-PPARG translocation has been reported to occur in the majority of FTC. In this study, a group of 60 follicular thyroid neoplasms [18 FTC, 1 Hurthle cell carcinoma (HCC), 24 follicular thyroid adenomas (FTA), 5 Hurthle cell adenomas (HCA), and 12 follicular variants of papillary thyroid carcinomas (FV-PTC)] were analyzed to determine the prevalence of the PAX8-PPARG translocation by fluorescence in situ hybridization. The PAX8-PPARG translocation was detected in 2/18 FTC (11.1%). In addition, 2/18 (11.1%) FTC and 1/5 (20%) HCA showed 3p25 aneusomy only. The frequency of the translocation detected in the study was lower compared to the earlier studies conducted in Western countries. This might be attributed to the ethnic background and geographic location. Detection of either the PAX8-PPARG translocation or the 3p25 aneusomy in FTC indicates that these are independent genetic events. It is hereby concluded that 3p25 aneusomy or PAX8-PPARG translocation may play an important role in the molecular pathogenesis of follicular thyroid tumors.
Biohydrogen production from catalytic conversion of food waste via steam and air gasification using eggshell- and homo-type Ni/Al2O3 catalysts

Valizadeh S, Lam SS, Ko CH, Lee SH, Farooq A, Yu YJ, et al.

Bioresour Technol, 2021 Jan;320(Pt B):124313.
PMID: 33197736 DOI: 10.1016/j.biortech.2020.124313

Steam and air gasification with 5 wt% Ni/Al2O3 eggshell (Ni-EG) and homo (Ni-H) catalysts were performed for the first time to produce biohydrogen from food waste. The steam gasification produced comparably higher gas yield than air gasification. In non-catalytic experiments, steam gasification generated a higher volume percent of H2, whereas more CO, CO2, CH4, and C2-C4 were produced in air gasification. Ni-EG demonstrated higher potential to obtain H2-rich gases with a low C2-C4 content compared to that obtained by Ni-H, particularly in steam gasification at 800 °C, which produced gaseous products with 59.48 vol% H2. The long-term activity of both catalysts in steam gasification was evaluated, and Ni-EG exhibited higher stability than Ni-H. The ideal distribution of Ni species on the outer region of γ-Al2O3 pellets in Ni-EG resulted in higher activity, stability, and selectivity than Ni-H in both steam and air gasification.
Fulltext Identification of novel large genomic rearrangements at the BRCA1 locus in Malaysian women with breast cancer

Sharifah NA, Nurismah MI, Lee HC, Aisyah AN, Clarence-Ko CH, Naqiyah I, et al.

Cancer Epidemiol, 2010 Aug;34(4):442-7.
PMID: 20451485 DOI: 10.1016/j.canep.2010.04.010

The incidence of breast cancer has been on the rise in Malaysia. It is suggested that a subset of breast cancer cases were associated with germline mutation in breast cancer susceptibility (BRCA) genes. Most of the BRCA mutations reported in Malaysia were point mutations, small deletions and insertions. Here we report the first study of BRCA large genomic rearrangements (LGRs) in Malaysia. We aimed to detect the presence of LGRs in the BRCA genes of Malaysian patients with breast cancer.
Fulltext Expert appraisal of criteria for assessing gaming disorder: an international Delphi study

Castro-Calvo J, King DL, Stein DJ, Brand M, Carmi L, Chamberlain SR, et al.

Addiction, 2021 09;116(9):2463-2475.
PMID: 33449441 DOI: 10.1111/add.15411

BACKGROUND AND AIMS: Following the recognition of 'internet gaming disorder' (IGD) as a condition requiring further study by the DSM-5, 'gaming disorder' (GD) was officially included as a diagnostic entity by the World Health Organization (WHO) in the 11th revision of the International Classification of Diseases (ICD-11). However, the proposed diagnostic criteria for gaming disorder remain the subject of debate, and there has been no systematic attempt to integrate the views of different groups of experts. To achieve a more systematic agreement on this new disorder, this study employed the Delphi expert consensus method to obtain expert agreement on the diagnostic validity, clinical utility and prognostic value of the DSM-5 criteria and ICD-11 clinical guidelines for GD.
METHODS: A total of 29 international experts with clinical and/or research experience in GD completed three iterative rounds of a Delphi survey. Experts rated proposed criteria in progressive rounds until a pre-determined level of agreement was achieved.
RESULTS: For DSM-5 IGD criteria, there was an agreement both that a subset had high diagnostic validity, clinical utility and prognostic value and that some (e.g. tolerance, deception) had low diagnostic validity, clinical utility and prognostic value. Crucially, some DSM-5 criteria (e.g. escapism/mood regulation, tolerance) were regarded as incapable of distinguishing between problematic and non-problematic gaming. In contrast, ICD-11 diagnostic guidelines for GD (except for the criterion relating to diminished non-gaming interests) were judged as presenting high diagnostic validity, clinical utility and prognostic value.
CONCLUSIONS: This Delphi survey provides a foundation for identifying the most diagnostically valid and clinically useful criteria for GD. There was expert agreement that some DSM-5 criteria were not clinically relevant and may pathologize non-problematic patterns of gaming, whereas ICD-11 diagnostic guidelines are likely to diagnose GD adequately and avoid pathologizing.