Displaying publications 21 - 40 of 58 in total

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  1. Ng KL, Htun TH, Dublin N, Ong TA, Razack AH
    Asian Pac J Cancer Prev, 2012;13(6):2515-8.
    PMID: 22938414
    AIM: To study the causes and significance of both microscopic and macroscopic haematuria in adult patients and assess possible relevance to early detection of urological cancers.

    METHODS: 417 patients presenting with haematuria were assessed in our Urology Unit. Following confirmation of haematuria, these patients were subjected to imaging techniques and flexible cystoscopy. Parameters analysed included clinical characteristics, imaging results, flexible cystoscopy findings, time delay to diagnoses and eventual treatment and final diagnoses of all cases.

    RESULTS: 390 haematuria cases were analysed from 417 consecutive patients with haematuria. After 27 cases were excluded as they had previous history, 245 microscopic and 145 macroscopic. Age range was 17 to 95 years old with predominance of 152 females to 239 males. The racial distribution included 180 Chinese, 100 Indians,95 Malays and 15 other races. The final diagnoses were benign prostatic hyperplasia (22.6%), no cause found (22.3%), other causes (18.7%), urolithiasis (11.5%), urinary tract infection UTI (10.8%), non specific cystitis (10.3%), bladder tumours (2.8%) and other genitourinary tumours (1%). 11 new cases (2.8%) of bladder cancers were diagnosed, with a mean age of 59 years. Only 3 of 245 (1.2%) patients with microscopic haematuria had newly diagnosed bladder tumour compared with 8 of 145 (5.5%) patients with frank haematuria (p=0.016). Mean time taken from onset of symptoms to diagnosis of bladder cancer was 53.3 days with definitive treatment (TURBT) in 20.1 days from diagnosis.

    CONCLUSION: - This study has highlighted the common causes of haematuria in our local setting. We recommend that full and appropriate investigations be carried out on patients with frank haematuria especially those above 50 years old in order to provide earlier detection and prompt management of bladder diseases especially tumours.

  2. Ng KL, Mahadevan DT, Htun TH, Razack AH, Dublin N
    Med J Malaysia, 2011 Aug;66(3):268-9.
    PMID: 22111458
  3. Ng KL, Ho J, Ng HS, Luman W
    Med J Malaysia, 2003 Aug;58(3):337-44.
    PMID: 14750372
    This is a retrospective study of fourteen patients who had proven Cytomegalovirus (CMV) infection of the gastrointestinal tract with no Human Immunodeficiency virus infection. The median age was 60.5 (Range 28 to 81) years. Eight patients were below (Group 1) and six above sixty five years old (Group 2). Areas of gastro-intestinal involvement were: oesophagus (2), stomach (1), colon (10) and multiple sites (1). Seven patients from Group 1 had received immunosuppressive therapy at the time of presentation and one had diabetes mellitus. We found a high prevalence of co-morbidities such as chronic renal failure and diabetes mellitus in Group 2. At median follow up of 13.9 months, there was a mortality rate of 50%. Only four patients were treated with ganciclovir. Our study concludes that the gastrointestinal CMV diseases in young patients were associated with immunosuppression whereas the older patients had chronic renal failure or diabetes.
  4. Ng KL, Yap NY, Rajandram R, Small D, Pailoor J, Ong TA, et al.
    Pathology, 2018 Aug;50(5):511-518.
    PMID: 29935727 DOI: 10.1016/j.pathol.2018.03.003
    Better characterisation and understanding of renal cell carcinoma (RCC) development and progression lead to better diagnosis and clinical outcomes. In this study, expression of nuclear factor-kappa B (NF-κB) subunits: p65 (RelA), p105/p50, p100/p52, and cRel in RCC tissue were compared with corresponding normal kidney, along with tumour characteristics and survival outcome. Ninety-six cases of RCC with paired normal kidney were analysed. Clinicopathological data, demographics and survival data were available. Immunohistochemistry (IHC) for NF-κB subtypes was analysed using the Aperio digital pathology system for overall cellular expression and localisation. The prognostic cancer-specific survival value of the subunits in RCC patients was analysed. Approximately 50% of patients had clinical stage T1, with 22 patients having metastases at presentation. RCC subtypes were: clear cell (n = 76); papillary (n = 11); chromophobe (n = 5); clear cell tubulopapillary (n = 3); and one multilocular cystic RCC. Median follow up was 54.5 months (0.2-135), with 28 deaths at time of analysis. NF-κB p65 had higher overall and nuclear expressions, with lower overall and nuclear expressions of p50, p52 and cRel in RCC compared with normal kidney. Higher expressions of p65 (nuclear), p52 (overall and nuclear) and p50 (overall) correlated significantly with worse cancer-specific survival. This is the first large series of analysis of expression of NF-κB subunits in RCC. Especially with regards to the less studied subunits (p52, p50, cRel), our results allow a better understanding the role of NF-κB in RCC development and progression, and may pave the way for future targeted NF-κB subunit specific therapies.
  5. Ng KL, Del Vecchio SJ, Samaratunga H, Morais C, Rajandram R, Vesey DA, et al.
    Pathology, 2018 Aug;50(5):504-510.
    PMID: 29970253 DOI: 10.1016/j.pathol.2018.01.007
    One of the challenges in differentiating chromophobe renal cell carcinoma (chRCC) from benign renal oncocytoma (RO) is overlapping morphology between the two subtypes. The aim of this study was to investigate the usefulness of expression of leptin (Ob) and its receptor (ObR) in discriminating chRCC from RO. Sections from paraffin-embedded, formalin-fixed tumour nephrectomy specimens of 45 patients, made up of 30 chRCC (15 eosinophilic variant and 15 non-eosinophilic variant) and 15 RO, were used in this study. Samples (30) of clear cell RCC (ccRCC), the most common histological subtype, were used to verify staining patterns found by others in our cohort of Australasian patients. Matched morphologically normal non-cancer kidney tissues were included for each specimen. Sections were batch-immunostained using antibodies against Ob and ObR. Stained sections were digitally scanned using Aperio ImageScope, and the expression pattern of Ob and ObR was studied. In this cohort, male to female ratio was 2:1; median age was 64 (45-88 years); and median tumour size was 3.8 cm (range 1.2-18 cm). There were 47 (62.7%) T1, seven T2, 20 T3 and one T4 stage RCC. Two patients with ccRCC presented with metastases. Nuclear expression of Ob was significantly higher in RO compared with chRCC. The increased nuclear expression of Ob in RO compared with chRCC may be a useful aid in the difficult histological differentiation of RO from chRCC, especially eosinophilic variants of chRCC.
  6. Ng KL, Lee EL, Sani RA
    Trop Biomed, 2012 Mar;29(1):187-90.
    PMID: 22543620 MyJurnal
    This study was conducted to investigate the low prevalence of Dirofilaria immitis in dogs in Johor Bahru as reported by veterinary practitioners, using wet blood mount, Knott's Concentration Test and two heartworm antigen test kits (IDEXX Canine SNAP® 4Dx and RapiGEN®). This study also compared the two test kits used and determined the microfilaria species. Blood were collected from 100 owned dogs and 50 stray dogs in Johor Bahru via cephalic venipuncture. A thick blood smear was done and examined for samples that were positive for microfilaria species identification. The overall prevalence of D. immitis in dogs in Johor Bahru was 1.33% (2/150) and the microfilaria identified was D. immitis. The prevalence of heartworm in owned and stray dogs in this study was 1% and 2% respectively. With only one false negative result from RapiGEN® test kit, comparing the sensitivity between the two test kits could not be achieved. The low prevalence of D. immitis found in this study confirmed anecdotal evidence that prevalence of dirofilariasis is indeed low in Johor Bahru. Additionally, we speculate that dirofilariasis in dogs might be considered as an indicator of vector availability.
  7. Ng KL, Morais C, Bernard A, Saunders N, Samaratunga H, Gobe G, et al.
    J Clin Pathol, 2016 Aug;69(8):661-71.
    PMID: 26951082 DOI: 10.1136/jclinpath-2015-203585
    Numerous immunohistochemical (IHC) biomarkers have been employed to aid in the difficult differentiation between chromophobe renal cell carcinoma (chRCC) and renal oncocytoma (RO). A systematic review and meta-analysis of the published literature was carried out to summarise and analyse the evidence for discriminatory IHC biomarkers to differentiate the two entities.
  8. Ng KL, Lee SM, Khor SM, Tan GH
    Anal Sci, 2015;31(10):1075-81.
    PMID: 26460374 DOI: 10.2116/analsci.31.1075
    Graphite material is abundantly available from recyclable sources. It possesses a good electrical conductance property, which makes it an attractive material as a working electrode. However, due to a high activation overpotential it has limited applications as compared to other solid metal electrodes. In this present work, we obtained a graphite rod from a used battery, and carried out electrochemical improvements by electro-deposition with gold nanoparticles (AuNPs). The heterogeneous electron transfer rate and electron transfer resistance of the fabricated electrode were improved. The electrode overpotential has shown improvement by 50 mV, and the effective surface area has increased by 2 fold. To determine the practicability of the AuNPs/graphite electrode, we used the electrode in the analysis of myricetin. A square-wave voltammetry was used in the analysis, and the detection response increased by 2.5 fold, which suggested an improvement in the electrode sensitivity.
  9. Ng KL, Huan NC, Mohammad FA, Mohd Aminudin NH, Mohammad FA, Abdul Rahaman JA
    Med J Malaysia, 2022 Jan;77(1):33-40.
    PMID: 35086992
    BACKGROUND: Bronchial provocation test (BPT) is widely used internationally not only to evaluate bronchial responsiveness in conditions especially asthma, but is also utilized as a marker of control, severity and prognosis for asthma. However, the uptake of BPT in certain countries including Malaysia remains low. We aimed to explore this lack of knowledge by assessing the current level of awareness and knowledge on BPT amongst doctors in Malaysia.

    MATERIALS AND METHODS: A nationwide web-based questionnaire targeting doctors was sent through social media (Facebook, WhatsApp and Telegram) and Malaysian Medical Association (MMA) mailing lists between 1 October 2020 - 5 February 2021.

    RESULTS: In all 415 survey responses were analysed from doctors of various grades namely medical officers to consultants. A total of 404 (97.35%) encountered patients with asthma in their daily practice. According to specialty: 169 (40.72%) were from primary care, 121 (29.16%) internal medicine, 50 (12.05%) pulmonary medicine and 75 (18.07%) others. Only 163 (39.28%) were aware of BPT as a tool to diagnose asthma. 232 (55.90%) and 124 (29.88%) regarded BPT as an important test and felt confident to refer patients for BPT respectively. Of those participants who were not confident to refer: 35.17% were unsure of BPT indications, 33.21% were unsure of centres providing BPT, 8.17% cited logistic reasons, 6.04% were concerned of possible BPT side effects. 387 (93.25%) wanted more training in BPT. The median BPT knowledge score was 20% (1 out of 5). Awareness and knowledge were affected by specialty but not by: region of practice, gender, age and grade from logistic regression analysis.

    CONCLUSION: Various national level programs and targeted local interventions are much needed to increase the awareness, knowledge and uptake of BPT in Malaysia.

  10. Ng KL, Khor SM
    Anal Chem, 2017 09 19;89(18):10004-10012.
    PMID: 28845664 DOI: 10.1021/acs.analchem.7b02432
    Guanine (G), adenine (A), thymine (T), and cytosine (C) are the four basic constituents of DNA. Studies on DNA composition have focused especially on DNA damage and genotoxicity. However, the development of a rapid, simple, and multiplex method for the simultaneous measurement of the four DNA bases remains a challenge. In this study, we describe a graphite-based nanocomposite electrode (Au-rGO/MWCNT/graphite) that uses a simple electro-co-deposition approach. We successfully applied the developed sensor for multiplex detection of G, A, T, and C, using square-wave voltammetry. The sensor was tested using real animal and plant DNA samples in which the hydrolysis of T and C could be achieved with 8 mol L-1 of acid. The electrochemical sensor exhibited excellent sensitivity (G = 178.8 nA/μg mL-1, A = 92.9 nA/μg mL-1, T = 1.4 nA/μg mL-1, and C = 15.1 9 nA/μg mL-1), low limit of detection (G, A = 0.5 μg mL-1; T, C = 1.0 μg mL-1), and high selectivity in the presence of common interfering factors from biological matrixes. The reliability of the established method was assessed by method validation and comparison with the ultraperformance liquid chromatography technique, and a correlation of 103.7% was achieved.
  11. Ng KL, Tan GH, Khor SM
    Food Chem, 2017 Dec 15;237:912-920.
    PMID: 28764086 DOI: 10.1016/j.foodchem.2017.06.029
    Butylated hydroxyanisole (BHA), butylated hydroxytoluene (BHT), and tert-butylhydroquinone (TBHQ) are synthetic antioxidants used in the food industry. Herein, we describe the development of a novel graphite nanocomposite-based electrochemical sensor for the multiplex detection and measurement of BHA, BHT, and TBHQ levels in complex food samples using a linear sweep voltammetry technique. Moreover, our newly established analytical method exhibited good sensitivity, limit of detection, limit of quantitation, and selectivity. The accuracy and reliability of analytical results were challenged by method validation and comparison with the results of the liquid chromatography method, where a linear correlation of more than 0.99 was achieved. The addition of sodium dodecyl sulfate as supporting additive further enhanced the LSV response (anodic peak current, Ipa) of BHA and BHT by 2- and 20-times, respectively.
  12. Ng KL, Tan SN, Huan NC, Nasaruddin MZ, Othman N, Rahaman JAA
    Respirol Case Rep, 2024 Mar;12(3):e01333.
    PMID: 38528948 DOI: 10.1002/rcr2.1333
    Multiple myeloma (MM) is characterized by neoplastic proliferation of monoclonal antibody producing plasma cells. In clinical practice, pleural effusion is seen in up to 6% of MM patients, with many causative factors. Nevertheless, true myelomatous pleural effusion, defined as infiltration of the pleura by myeloma cells, is very rare. In this case report, we present two patients with biopsy proven myelomatous pleural effusion. The first patient developed myelomatous pleural effusion as initial presentation while the second patient's pleural effusion occurred during disease relapse. In both cases, prompt diagnosis via medical thoracoscopy (MT) followed by early commencement of myeloma specific chemotherapy led to clinical, biochemical, and radiological resolution and therefore were crucial steps in the management of myelomatous pleural effusion.
  13. Ng KL, Huan NC, Nasaruddin MZ, Muhammad NA, Daut UN, Abdul Rahaman JA
    Respirol Case Rep, 2021 Feb;9(2):e00704.
    PMID: 33364028 DOI: 10.1002/rcr2.704
    Pulmonary mucormycosis is a rare but rapidly progressing and life-threatening fungal infection, usually affecting immunocompromised patients. We report a case of a previously healthy young lady who presented with prolonged cough, weight loss, and haemoptysis. Imaging showed left hilar mass with infiltration into the left main bronchus and concurrent mediastinal lymphadenopathy. Flexible bronchoscopy revealed an endobronchial mass occluding the left main bronchus. Tumour debulking was performed using rigid bronchoscopy with cryoprobe and snares. Histopathological examination revealed inflamed tissue with fungal organism. Fungal polymerase chain reaction (PCR) confirmed Rhizopus microsporus. She was treated with two weeks of intravenous amphotericin-B with complete clinical and radiological resolution.
  14. Mohd Zaki F, Ng KL, Te BC, Azman MH, Nur Aifaa L, Mohd Razali N, et al.
    Med J Malaysia, 2016 Jun;71(3):122-5.
    PMID: 27495885 MyJurnal
    Detection of neuraxial abnormality in neurologically asymptomatic adolescent idiopathic scoliosis (AIS) is crucial prior to surgery. It can only be detected on magnetic resonance imaging (MRI), which was not routinely done in this group of patient. On the other hand, whole spine radiographs for measurement of Cobb angle have been routinely included during clinic follow-up. This study aimed to determine the correlation between Cobb angle progression and neuraxial abnormality finding on MRI in asymptomatic AIS.
  15. Md Sani SS, Han WH, Bujang MA, Ding HJ, Ng KL, Amir Shariffuddin MA
    BMC Infect Dis, 2017 07 21;17(1):505.
    PMID: 28732476 DOI: 10.1186/s12879-017-2601-8
    BACKGROUND: Existing biomarkers such as AST, ALT and hematocrit have been associated with severe dengue but evidence are mixed. Recently, interests in creatine kinase as a dengue biomarker have risen. These biomarkers represent several underlying pathophysiological processes in dengue. Hence, we aimed to assess AST, ALT, CK and hematocrit in identification of severe dengue and to assess the correlational relationship amongst common biomarkers of dengue.

    METHODS: This was a retrospective cohort study of confirmed dengue patients who were warded in Kuala Lumpur Hospital between December 2014 and January 2015. CK, AST, ALT, hematocrit, platelet count, WBC and serum albumin were taken upon ward admission and repeated at timed intervals. Composite indices based on admission AST and ALT were analyzed. Correlation coefficients and coefficients of determination were computed.

    RESULTS: Among the 365 cases reviewed, twenty-two (6%) patients had severe dengue. AST and ALT were found to be good at identification of severe dengue. The AST2/ALT composite index was the most accurate (AUC 0.83; 95% CI 0.73 - 0.93). Optimal cutoff was 402 with a sensitivity of 59.1% (95% CI: 36.4 - 79.3%) and specificity of 92.4% (95% CI: 89.1 - 95.0%). Modified cutoff of 653 had a sensitivity of 40.9% (95% CI: 20.7 - 63.7%) and specificity of 97.4% (95% CI: 95.1 - 98.8%). Our analyses also suggested that several underlying biological processes represented by biomarkers tested were unrelated despite occurring in the same disease entity. Also, markers of plasma leakage were discordant and AST was likely hepatic in origin.

    CONCLUSIONS: The composite index AST2/ALT may be used as a marker for identification of severe dengue based on admission AST and ALT, with two choices of cutoff values, 402 and 653. AST is most likely of liver origin and CK does not provide additional value.

  16. Lo TS, Al-Kharabsheh AM, Pue LB, Ng KL, Huang TX
    J Urol, 2020 10;204(4):787-792.
    PMID: 32898974 DOI: 10.1097/JU.0000000000001085
    PURPOSE: We evaluated mid urethral sling outcomes in overweight and obese patients compared to normal weight patients and identified risk factors for failure in this population.

    MATERIALS AND METHODS: Records of 688 women between January 2004 and July 2017 were retrospectively reviewed. Patients received urodynamic studies, 1-hour pad test, Urogenital Distress Inventory-6 and Incontinence Impact Questionnaire-7, and were divided into normal weight, overweight and obese. Objective cure at 1 year was defined as no involuntary urine leakage during filling cystometry and pad test less than 2 gm. Subjective cure was established by negative response to question 3 on Urogenital Distress Inventory-6. McNemar's test, chi-square test, Mann-Whitney U and Fisher's exact test were used for paired categorical variables. Independent samples t-tests and paired t-test were used for continuous parametric variables. Multivariate logistic regression was used to identify risk factors for failure.

    RESULTS: Objective and subjective cure in normal, overweight and obese patients was 91.4% and 89.1%, 87.5% and 86%, and 76% and 70.1%, respectively. There was no difference in surgical complications. Obese patients had worse quality of life scores preoperatively and postoperatively. Risk factors in obese patients with failed mid urethral sling included 66 years old or older (OR 2.02, 1.56-3.98), menopause (OR 4.21, 1.21-14.22), previous prolapse surgery (OR 4.57, 2.36-8.52), diabetes (OR 2.79, 1.61-5.99) and intrinsic sphincter deficiency (OR 5.06, 3.08-9.64).

    CONCLUSIONS: Obese women with mid urethral sling had lower objective and subjective cure at 1 year and worse quality of life scores compared to normal and overweight women. Risk factors for failure include age, diabetes, menopause, previous prolapse surgery and intrinsic sphincter deficiency.

  17. Lo TS, Ng KL, Lin YH, Hsieh WC, Kao CC, Tan YL
    Int Urogynecol J, 2021 May 18.
    PMID: 34003308 DOI: 10.1007/s00192-021-04757-3
    INTRODUCTION AND HYPOTHESIS: Our primary objective was to study outcomes of patients with intrinsic sphincter deficiency (ISD) following mid-urethral slings (MUS) at 1-year. Our secondary objective was to delineate factors affecting success in these patients.

    METHODS: Six hundred eighty-eight patients who had MUS between January 2004 and April 2017 were reviewed retrospectively; 48 women were preoperatively diagnosed with ISD. All completed urodynamic studies and validated quality-of-life (QOL) questionnaires at baseline and 1 year. Primary outcomes were objective and subjective cure of stress incontinence, defined as no involuntary urine leakage during filling cystometry and 1-h pad test < 2 g and negative response to Urogenital Distress Inventory-6 Question 3. Ultrasound was performed to determine tape position, urethral mobility and kinking at 1 year.

    RESULTS: Women with ISD had significantly lower objective and subjective cure rates of 52.1% and 47.9%, respectively, compared to an overall of 88.2% and 85.9%. QOL scores significantly improved in those with successful surgeries. The sling type did not make a difference. Multivariate logistic regression identified reduced urethral mobility [OR 2.11 (1.24-3.75)], lower maximum urethral closure pressure (MUCP) [OR 1.61 (1.05-3.41)] and tape position [OR 3.12 (1.41-8.71)] to be associated with higher odds of failed slings for women with ISD.

    CONCLUSIONS: Although there are good overall success in women undergoing MUS, those with ISD have significantly lower cure rates at 1 year. Factors related to failure include reduced urethral mobility, low MUCP and relative tape position further away from the bladder neck. Optimal management of patients with ISD and reduced urethral mobility remains challenging.

  18. Lim J, Bhoo-Pathy N, Sothilingam S, Malek R, Sundram M, Hisham Bahadzor B, et al.
    PLoS One, 2014;9(8):e104917.
    PMID: 25111507 DOI: 10.1371/journal.pone.0104917
    OBJECTIVES: To study the baseline PSA profile and determine the factors influencing the PSA levels within a multiethnic Asian setting.
    MATERIALS AND METHODS: We conducted a cross-sectional study of 1054 men with no clinical evidence of prostate cancer, prostate surgery or 5α-reductase inhibitor treatment of known prostate conditions. The serum PSA concentration of each subject was assayed. Potential factors associated with PSA level including age, ethnicity, height, weight, family history of prostate cancer, lower urinary tract voiding symptoms (LUTS), prostate volume and digital rectal examination (DRE) were evaluated using univariable and multivariable analysis.
    RESULTS: There were 38 men (3.6%) found to have a PSA level above 4 ng/ml and 1016 (96.4%) with a healthy PSA (≤4 ng/ml). The median PSA level of Malay, Chinese and Indian men was 1.00 ng/ml, 1.16 ng/ml and 0.83 ng/ml, respectively. Indians had a relatively lower median PSA level and prostate volume than Malays and Chinese, who shared a comparable median PSA value across all 10-years age groups. The PSA density was fairly similar amongst all ethnicities. Further analysis showed that ethnicity, weight and prostate volume were independent factors associated with age specific PSA level in the multivariable analysis (p<0.05).
    CONCLUSION: These findings support the concept that the baseline PSA level varies between different ethnicities across all age groups. In addition to age and prostate volume, ethnicity may also need to be taken into account when investigating serum PSA concentrations in the multiethnic Asian population.
  19. Lim J, Bhoo-Pathy N, Sothilingam S, Malek R, Sundram M, Tan GH, et al.
    PLoS One, 2015;10(6):e0130820.
    PMID: 26098884 DOI: 10.1371/journal.pone.0130820
    To determine the lower urinary tract symptoms (LUTS) profile and factors affecting its degree of severity including cardiovascular risk profile, age, ethnicity, education level and prostate volume in a multiethnic Asian setting.
  20. Lee CC, Harun F, Jalaludin MY, Lim CY, Ng KL, Mat Junit S
    Biomed Res Int, 2014;2014:370538.
    PMID: 24745015 DOI: 10.1155/2014/370538
    The c.2268dup mutation in thyroid peroxidase (TPO) gene was reported to be a founder mutation in Taiwanese patients with dyshormonogenetic congenital hypothyroidism (CH). The functional impact of the mutation is not well documented. In this study, homozygous c.2268dup mutation was detected in two Malaysian-Chinese sisters with goitrous CH. Normal and alternatively spliced TPO mRNA transcripts were present in thyroid tissues of the two sisters. The abnormal transcript contained 34 nucleotides originating from intron 12. The c.2268dup is predicted to generate a premature termination codon (PTC) at position 757 (p.Glu757X). Instead of restoring the normal reading frame, the alternatively spliced transcript has led to another stop codon at position 740 (p.Asp739ValfsX740). The two PTCs are located at 116 and 201 nucleotides upstream of the exons 13/14 junction fulfilling the requirement for a nonsense-mediated mRNA decay (NMD). Quantitative RT-PCR revealed an abundance of unidentified transcripts believed to be associated with the NMD. TPO enzyme activity was not detected in both patients, even though a faint TPO band of about 80 kD was present. In conclusion, the c.2268dup mutation leads to the formation of normal and alternatively spliced TPO mRNA transcripts with a consequential loss of TPO enzymatic activity in Malaysian-Chinese patients with goitrous CH.
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