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- 저자 : Ngu Lock-Hock (검색결과 4 건)
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Diagnosis and Management of Patients with Mucopolysaccharidoses in Malaysia
Ngu, Lock-Hock Association for Research of MPS and Rare Diseases 2018 Journal of mucopolysaccharidosis and rare disease Vol.4 No.1
In Malaysia, diagnosis and treatment of patients with mucopolysaccharidoses (MPS) is mainly localized at Hospital Kuala Lumpur, which is the national referral center for rare diseases. To date there are 83 patients diagnosed with MPS in our center, with MPS II being the commonest. The Malaysian National Medicines Policy second edition has a specific section on the orphan drugs which includes recombinant human enzyme for enzyme replacement therapy (ERT) in MPS. So far, National Pharmaceutical Regulatory Agency Malaysia has approved recombinant human enzyme for MPS types I (Loranidase), II (idursulfase), IVA (elosulfase alfa), and VI (Galsufase). Access to Idursulfase beta (another recombinant human enzyme for MPS II) and vestronidase alfa-vjbk (MPS VII) required special authorization on named patient basic. Currently there are 25 patients receiving ERT, 70% of the funding are from Ministry of Health (MOH), the remaining 30% are from various charitable funds and humanitarian programs. Thirteen newly diagnosed patients have to queue for an additional fund. Four patients have been treated with Hematopoietic stem cell transplant. MOH has also published guidelines regarding the patient selection criteria for ERT and treatment monitoring schedule.
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Mustaffa Khairu Hazwan,Shafie Asrul Akmal,Ngu Lock-Hock 한국간호과학회 2022 Asian Nursing Research Vol.16 No.3
Purpose: To compare patient care multipliers estimated from subjective evaluation against work sampling (WS) techniques in genetic nursing activities. Methods: An observational WS technique was conducted from November to December 2019 with nine genetic nurses in a tertiary referral center in Malaysia. The WS activity instrument was devised, validated, and pilot tested. All care- and non-care-related activities were sampled at 10-minute intervals within 8 hours of working over 14 days, followed by a subjective evaluation of activities survey over the same period. Bonferroni correction was undertaken for multiple testing with a p value of 0.0025. Results: The two techniques produced significant differences in genetic nurses’ activities categorization. The WS showed that compared with subjective evaluation, direct care (19.3% vs. 45.0%; p < .001) was estimated to be significantly lower, and indirect care (40.4% vs. 25.6%; p < .001) and unit-related activity (28.5% vs. 16.9%; p < .001) were higher. Both techniques produced a similar proportion of time spent in other non-care activities (12.0%) but differed in genetic meetings and information-gathering activities. While the multipliers for patient face-to-face contact were significantly larger between WS (4.57) and the survey (1.94), the multipliers for patient care time were smaller between WS (1.47) and the survey (1.24), indicating that caution should be taken when multiplying for patient contact time compared to patient care activity to determine the cost of care provision. Conclusion: A considerable proportion of time spent away from the patient needs to be allocated to patient-related care time. Thus, estimating the paid cost solely based on direct time with patients considerably underestimates the cost per hour of nurses' care. It is recommended to employ ‘patientrelated activity’ instead of the ‘face-to-face contact’ multiplier because the former did not significantly differ from the one estimated using WS.
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Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients
Ili Syazwana Abdullah,Ser‑Huy Teh,Fiqri Dizar Khaidizar,Lock‑Hock Ngu,Wee‑Teik Keng,Sufin Yap,Zulqarnain Mohamed 한국유전학회 2019 Genes & Genomics Vol.41 No.8
Background Glycogen storage disease type III is an autosomal recessive disorder that is caused by deficiencies of the glycogen debranching enzyme. Mutations within the AGL gene have been found to be heterogeneous, with some common mutations being reported in certain populations. The mutation spectrum of AGL gene in the multi-ethnic Malaysian population is still unknown. Objective The present study seeks to determine the mutation spectrum of the AGL gene in Malaysian population. Methods A total of eleven patients (eight Malay, two Chinese and one Bajau) were investigated. Genomic DNA was extracted and subsequently the AGL gene was amplified using specific primers and sequenced. Mutations found were screened in 150 healthy control samples either by restriction enzyme digestion assay or TaqMan ® SNP Genotyping assay. Results We identified six unreported mutations (c.1423+1G>T, c.2914_2915delAA, c.3814_3815delAG, c.4333T>G, c.4490G>A, c.4531_4534delTGTC) along with three previously reported mutations (c.99C>T, c.1783C>T, c.2681+1G>A). One of the six unreported mutation causes abnormal splicing and results in retention of intron 12 of the mature transcript, while another is a termination read-through. One of the reported mutation c.2681+1G>A was recurrently found in the Malay patients (n = 7 alleles; 31.8%). Conclusion The mutation spectrum of the AGL gene in Malaysian patients has shown considerable heterogeneity, and all unreported mutations were absent in all 150 healthy control samples tested.
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