Displaying publications 941 - 960 of 1183 in total

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  1. Parsa P, Kandiah M
    Asian Pac J Cancer Prev, 2010;11(3):681-8.
    PMID: 21039036
    Breast cancer is the most common cancer among Malaysian women and early detection can play an important role in reducing cancer morbidity and mortality. The aim of this cross-sectional study was to determine the rates and factors related to clinical breast examination (CBE) and mammography among 425 female teachers in Selangor, Malaysia. A self-administered questionnaire that included questions on socio-demography, cancer-related knowledge and practice and an adapted version of Champion's revised Health Belief Model Scale was employed. The mean age of participants was 37.2 ± 7.16 years. Only 25% of the women ever had a CBE. Of women over the age 40 (n=138), 13.6% reported having had a mammography. The results showed higher susceptibility to breast cancer, higher benefits of doing CBE and regular visits with a physician to be significant predictors for undergoing CBE (p < 0.05). In addition, higher a perceived susceptibility to breast cancer and regular undergoing CBE were significant predictors for having a mammography. The findings clearly suggest a need for improving women's awareness on breast cancer screening, its importance and recommended guidelines.

    Study site: Secondary school teachers in Selangor, Malaysia.
    Matched MeSH terms: Prognosis
  2. Chook JB, Ngeow YF, Yap SF, Tan TC, Mohamed R
    J Med Virol, 2011 Apr;83(4):594-601.
    PMID: 21328372 DOI: 10.1002/jmv.22016
    Hepatitis B virus (HBV) and high liver iron deposits have both been associated with the development of cirrhosis. Among HBV factors, genotype and mutations in the basal core promoter (BCP) and precore regions have been most frequently studied but the evidence for a positive association with cirrhosis has been inconsistent. In this study, sera from persons with chronic HBV infection with and without cirrhosis were used for whole HBV genome analysis and for the estimation of serum iron marker (serum iron or ferritin) levels. Single codon analysis showed that the precore wild-type, TGG (nt 1,895-1,897), gave the highest accuracy (77.5%) for the identification of cirrhosis compared to other codons. When TGG was analyzed together with the precore start codon wild-type, ATG (nt 1,814-1,816), the accuracy was improved to 80.0% (odds ratio=35.29; 95% confidence interval=3.87-321.93; Phi=0.629; P<0.001). When the serum iron marker was included for analysis, it was clear that a combination of a precore wild-type and high serum iron marker gave a better accuracy (90.0%) (odds ratio=107.67; 95% confidence interval=10.21-1,135.59; Phi=0.804; P<0.001) for the identification of cirrhosis than either biomarker alone. It appeared that a combined use of both these biomarkers might help to predict the development of cirrhosis in a person with chronic HBV infection, but longitudinal studies are required to test this hypothesis.
    Matched MeSH terms: Prognosis
  3. Yap FBB
    Int J Dermatol, 2010 Feb;49(2):176-9.
    PMID: 20465642 DOI: 10.1111/j.1365-4632.2009.04342.x
    BACKGROUND: Basal cell carcinoma (BCC) is the most common skin cancer among Orientals. Data on this malignancy is lacking in Malaysia, prompting a retrospective study to determine the clinical characteristics in the skin clinic, Sarawak General Hospital between 2000 and 2008.
    METHODS: Demographic data and clinical features of 64 histopathologically proven BCC from 43 patients were retrieved. Statistical analysis was performed comparing the clinical characteristics based on the region of involvement and gender.
    RESULTS: The mean age of presentation was 60.9 years. Male to female ratio was 1.05. Majority of the patients were Chinese (44.2%) followed by Malays (32.6%), Bidayuhs (14.0%) and Ibans (6.9%). Nodular BCC accounted for 95.3% of cases while 4.7% were superficial BCC. All the nodular BCC were pigmented. Ulceration was noted in 18%. There were 82.8% of BCC on the head and neck region and 17.2% on the trunk and limb region. BCC on the latter region were larger (mean 35.0 cf. 14.4 mm, p < 0.001) and ulcerated (45.5% cf. 11.3%, p = 0.01). Superficial BCC were also more frequently encountered in this region (18.2% cf. 1.9%, p = 0.02). Compared to women, men had larger BCC (mean 21.1 cf. 13.3 mm, p = 0.03) and kept them for a longer duration (mean 21.6 cf. 13.3 months, p = 0.04).
    CONCLUSION: Clinical characteristics of BCC in Sarawak were similar to other Asian studies. Additionally, BCC on the trunk and limbs and in men were larger, ulcerative and long standing warranting better efforts for earlier detection.
    Study site: Skin clinic, Sarawak General Hospital, Kuching, Sarawak, Malaysia
    Matched MeSH terms: Prognosis
  4. Chew HB, Ngu LH, Zabedah MY, Keng WT, Balasubramaniam S, Hanifah MJ, et al.
    J Inherit Metab Dis, 2010 Dec;33 Suppl 3:S489-95.
    PMID: 21161389 DOI: 10.1007/s10545-010-9248-6
    Citrin deficiency, aetiologically linked to mutations of SLC25A13 gene, has two clinical phenotypes, namely adult-onset type II citrullinaemia (CTLN2) and neonatal/infantile intrahepatic cholestasis, caused by citrin deficiency (NICCD). Malaysian patients with NICCD, especially of Malay and East Malaysian indigenous descent, have never been reported in the literature. We present the clinical features, biochemical findings and results of molecular analysis in 11 Malaysian children with NICCD. In this case series, all patients manifested prolonged cholestatic jaundice and elevated citrulline levels. The other more variable features included failure to thrive, bleeding diathesis, hypoproteinaemia, abnormal liver enzymes, prolonged coagulation profile, hyperammonaemia, hypergalactosaemia, multiple aminoacidaemia, elevated α-feto protein and urinary orotic acid as well as liver biopsies showing hepatitis and steatosis. DNA analysis of SLC25A13 revealed combinations of 851del4(Ex9), IVS16ins3kb and 1638ins23. Most of our patients recovered completely by the age of 22 months. However, one patient had ongoing symptoms at the time of reporting and one had died of liver failure. Since a small percentage of children with NICCD will develop CTLN2 and the mechanisms leading to this is yet to be defined, ongoing health surveillance into adulthood is essential.
    Matched MeSH terms: Prognosis
  5. Chan KK, Dassanayake B, Deen R, Wickramarachchi RE, Kumarage SK, Samita S, et al.
    World J Surg Oncol, 2010;8:82.
    PMID: 20840793 DOI: 10.1186/1477-7819-8-82
    This study compares clinico-pathological features in young (<40 years) and older patients (>50 years) with colorectal cancer, survival in the young and the influence of pre-operative clinical and histological factors on survival.
    Matched MeSH terms: Prognosis
  6. Chew FL, Soong TK, Shin HC, Samsudin A, Visvaraja S
    J Ocul Pharmacol Ther, 2010 Apr;26(2):219-22.
    PMID: 20415627 DOI: 10.1089/jop.2009.0077
    To report the treatment of therapy-resistant Pseudomonas aeruginosa keratitis with topical piperacillin/tazobactam.
    Matched MeSH terms: Prognosis
  7. Suthahar A, Gurpreet K, Ambigga D, Dhachayani S, Fuad I, Maniam T, et al.
    Med J Malaysia, 2008 Dec;63(5):362-8.
    PMID: 19803291 MyJurnal
    We present the results and conclusions of an observational prospective cohort design study using self-administered questionnaires to determine correlation between psychosocial factors and cancer outcome among 80 consecutive newly diagnosed treatment naïve cancer subjects who were being referred to the Oncology Clinic, Hospital Universiti Kebangsaan Malaysia. Subjects were recruited over a period of 43 weeks from October 2000 till July 2001. Follow-up assessments were carried out at 6-months and 12 to 26 months later. The prediction of survival time was performed by the Cox Regression Analysis method with adjustments for biological and psychosocial risk factors. It was noted that depression (p = 0.001), stage 4 cancer disease (p = 0.016), neurological (p = 0.032), gastrointestinal tract (p = 0.04), head and neck (p = 0.011), gynaecological (p = 0.005) and bone and soft tissue (p = 0.030) malignancies were independent and statistically significant prognostic factor of survival during the study period. It was further shown than depressed patients were found to have almost four fold greater risk of dying than non-depressed patients and patients with stage 4 cancer illness have a five fold greater risk of dying than patients with stage 1 disease. Furthermore, based on tumour types subjects with neurological, gynaecological, head and neck, bone and soft tissue and gastro intestinal tract malignancies were found to have approximately thirty-six, twenty-five, twenty-two, sixteen and seven fold greater risk of dying respectively when compared to subjects with genitourinary cancers. This study further affirms the need for health care providers to be aware of the psychological aspects of the cancer patient and provide appropriate therapy so as to ensure that this group of individuals would have enhanced survival rates.

    Study site: Oncology clinic, Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM)
    Matched MeSH terms: Prognosis
  8. Lum LC, Abdel-Latif ME, de Bruyne JA, Nathan AM, Gan CS
    Pediatr Crit Care Med, 2011 Jan;12(1):e7-13.
    PMID: 20190672 DOI: 10.1097/PCC.0b013e3181d505f4
    To determine the factors that predict outcome of noninvasive ventilation (NIV) in critically ill children.
    Matched MeSH terms: Prognosis
  9. Tan GH, Choo WY, Taib NA, Yip CH
    Asian Pac J Cancer Prev, 2009;10(5):837-40.
    PMID: 20104975
    INTRODUCTION: The HER2 gene is amplified in up to 30% of human breast cancers, leading to overexpression of the HER2 protein on the cell surface. Overexpression of HER2 is associated with a more aggressive cancer and hence a poorer overall survival.

    OBJECTIVE: To evaluate the association between clinico-pathological features and HER2 overexpression in breast cancer.

    METHODS: This is a retrospective study conducted in the Department of Surgery, University Malaya Medical Centre. The association between HER2 overexpression, determined by immunohistochemistry, and other clinicopathological factors was evaluated in 996 patients with newly diagnosed breast cancer treated from 2005 to 2007 using univariate and multivariate logistic regression.

    RESULTS: HER2 overexpression occurred in 30.3% of patients. On bivariate analysis, HER2 overexpression was inversely related to ER expression (p<0.01) and PR expression (p<0.01). This overexpression was associated with a higher tumour grade, lymphovascular positivity and infiltrating ductal carcinoma subtype. On multivariate analysis, HER2 overexpression was significantly associated with higher tumour grade (p= 0.018, CI 1.25-11.04), PR negativity (p= 0.002, CI 0.30-0.77) and lymphovascular positivity (p= 0.042, CI 1.01-2.12).

    CONCLUSIONS: HER2 overexpression was observed in 30.3% of Malaysian female breast cancer patients. This group of patients represents a more aggressive subtype of breast cancer with higher tumour grade, PR negativity and lymphovascular positivity. No significant relationship was established between HER2 overexpression and age, race, lymph node, ER, pathology subtype and stage of disease from this study.

    Matched MeSH terms: Prognosis
  10. Hassan BA, Yusoff ZB, Othman SB
    Asian Pac J Cancer Prev, 2009 Oct-Dec;10(4):641-4.
    PMID: 19827886
    INTRODUCTION: Neutropenia has a detrimental effect on cancer patients' quality of life, also possibly resulting in a reduction in the chemotherapy dose which could lead to an increment in the size of a cancer. The main danger associated with neutropenia is the risk of bacterial, fungal or viral infection, which may lead to patient death. Treatment including granulocyte-colony stimulating factors (G-CSF, filgrastim) so as to increase the body immunity is given to neutropenic patients with no infection i.e., absence of fever. However, when infection is present, antibiotics such as ceftazidime, imipenem and vancomycin need to be used.

    OBJECTIVE: The aim of this study was to find the association between neutropenia severity and treatment with filgrastim (Neupogen) alone or in combination with antibiotics in solid cancer patients.

    METHODS: This is an observational retrospective study on 117 cases suffering from neutropenia after chemotherapy administration. The patients were admitted to a government hospital for cancer treatment between the years 2003-2006. The types of data collected were categorical and not normally distributed, covering demography, chemotherapy, severity of neutropenia (classified on absolute neutrophil count into mild, moderate and severe) and treatment of neutropenia, either filgrastim (Neupogen) alone or in combination with antibiotics. Statistical tests used were the Chi-square test, Fisher's exact test and logistic regression.

    RESULTS: The majority (69.2%) of the patients were treated with filgrastim (81) alone, only 30.8% receiving the combination. Significant associations between both treatments and neutropenia severity. Both Chi-square and Fisher's exact tests showed P= 0.001. Logistic regression showed that filgrastim is the major treatment for severe neutropenic patients since the result showed an infinity (E) and P= 0.001 for filgrastim alone more than its combination with antibiotic.

    CONCLUSION: The use of filgrastim is highly associated with treatment of severe neutropenia in solid cancer patients who received chemotherapy. So filgrastim is considered as the drug of choice in the presence of severe neutropenic cases.
    Matched MeSH terms: Prognosis
  11. Othman NH, Devi BC, Halimah Y
    Asian Pac J Cancer Prev, 2009 Oct-Dec;10(4):569-74.
    PMID: 19827871
    We studied women with cervical cancer to determine whether they had had a Pap smear within the 3 years preceding cancer development and their understanding of screening for this cancer. The study had 2 parts; Pathology Data and Survey Data. For pathology data, all cases of cervical cancer diagnosed in 2000-2006 were retrieved from eight hospitals and Pap smear history was obtained from clinical records. For the Survey data; patients who were still undergoing treatment in some of these hospitals and three others were administered structured questionnaires to determine their awareness about screening. The results showed 1431 cases of cervical cancer in women aged 25-85 were diagnosed in these hospitals. Most had not had a Pap smear within 3 years before cancer development. The percentages of patients who had had Pap smear ranged from 0-12%. Questionnaires were returned by 221 patients; 56.3% had none or only primary education and 61.1% had a household income of RM 1,000 or less. Level of education and the household income were strongly associated (p<0.05) with knowledge and having had a Pap test. The main reasons cited for not having had a Pap smear were "Never heard about it" (36.2%), "Shy" (10.4%), "Afraid to do it" (13.1%), "Think the test is not important" (8.1%) and "No encouragement from family" (4.5%). A large majority (95.9%) of the patients did not know the optimal interval. In conclusion, a large number of cervical cancer patients had not had a Pap smear within 3 years preceding cancer development and most had inadequate knowledge about this screening test.
    Matched MeSH terms: Prognosis
  12. Chen Y, Lim BK, Hashim OH
    J Hematol Oncol, 2009;2:37.
    PMID: 19709441 DOI: 10.1186/1756-8722-2-37
    The general enhanced expression of alpha1-antichymotrypsin (ACT), clusterin (CLU), alpha1-antitrypsin (AAT), haptoglobin beta-chain (HAP), and leucine rich glycoprotein (LRG) in the sera of patients with epithelial ovarian carcinoma (EOCa) was recently reported. In the present study, we compared the expression of the serum acute-phase proteins (APPs) in the patients according to their stages of cancer.
    Matched MeSH terms: Prognosis
  13. Nurismah MI, Noriah O, Suryati MY, Sharifah NA
    Asian Pac J Cancer Prev, 2008 Oct-Dec;9(4):699-702.
    PMID: 19256762
    The traditional classification of infiltrating breast carcinomas into ductal and lobular can be diagnostically challenging in a small proportion of cases with equivocal histological features and in in-situ lesions with overlapping features. Distinguishing between the infiltrating ductal (IDC) and lobular (ILC) carcinomas is clinically important because of the different pattern of systemic metastases and prognostic evaluation. E-cadherin is a potentially useful immunohistochemical marker which may serve to differentiate between the two tumour types. We therefore studied E-cadherin expression in 32 cases of breast carcinomas comprising 16 IDCs and 16 ILCs. The correlation between E-cadherin expression and the histological grade of IDCs was also analysed. Our results showed complete loss of E-cadherin expression in all ILCs, while the IDCs consistently showed variable E-cadherin positivity. No significant correlation was found between E- cadherin expression and the histological grade of IDCs. We conclude from this study that E-cadherin is a useful marker to differentiate between IDC and ILC of the breast. A larger study of IDCs is now needed to further evaluate the correlation between E-cadherin and tumour grade to estimate its prognostic potential.
    Matched MeSH terms: Prognosis
  14. Abdul Rahman HI, Shah SA, Alias H, Ibrahim HM
    Asian Pac J Cancer Prev, 2008 Oct-Dec;9(4):649-52.
    PMID: 19256754
    BACKGROUND: In Malaysia, acute leukemia is the most common cancer among children below the age of 15. A case-control study was here conducted for cases from the Klang Valley, Malaysia, who received treatment at the National University of Malaysia Hospital (HUKM) and Kuala Lumpur General Hospital (GHKL). The main objective was to determine any association with environmental factors.

    METHODS: Case subjects were children aged below 15 years and diagnosed with acute leukemia in HUKM and GHKL between January 1, 2001 and May 30, 2007. Control subjects were children aged below 15 years who were diagnosed with any non-cancerous acute illnesses in these hospitals. A total of 128 case subjects and 128 control subjects were enrolled in this study. The information was collected using a structured questionnaire and a global positioning system (GPS) device. All factors were analyzed using unmatched logistic regression.

    RESULTS: The analysis showed that the occurrence of acute leukemia among children was strongly determined by the following factors: family income (odds ratio (OR) 0.19, 95% confidence interval (CI): 0.09-0.42), father with higher social contact (OR 7.61, 95% CI: 3.78-15.4), number of elder siblings (OR 0.36, 95% CI: 0.18-0.77), father who smokes (OR 2.78, 95% CI: 1.49-5.16), and the distance of the house from a power line (OR 2.30, 95% CI: 1.18-4.49).

    CONCLUSIONS: Some socioeconomic, demographic, and environmental factors are strong predictors of the occurrence of acute leukemia among children in Klang Valley, Malaysia. In terms of environmental factors, it is recommended that future housing areas should be developed at least 200 m away from power lines.
    Matched MeSH terms: Prognosis
  15. Tan GC, Sharifah NA, Shiran MS, Salwati S, Hatta AZ, Paul-Ng HO
    Asian Pac J Cancer Prev, 2008 Oct-Dec;9(4):781-4.
    PMID: 19256776
    The differentiation between cervical intraepithelial neoplasia 3 (CIN 3) and early squamous cell carcinoma (SCC) of the cervix may be difficult in certain situations. Identification of invasion beyond the basement membrane is the gold standard for the diagnosis of the latter. The objective of this study was to determine whether the use of Ki-67 and p53 could help in solving the above dilemma. This was a retrospective study on 61 cases of cervical neoplasms comprising of 25 cases of CIN 3 and 36 SCC. All cases were evaluated by immunohistochemistry using Ki-67 and p53 monoclonal antibodies. Results showed that the differences of Ki-67 and p53 expression between CIN 3 and SCC were statistically significant. In conclusion, Ki-67 and p53 may serve as helpful adjuncts to routinely-stained histological sections in differentiating between CIN 3 and SCC.
    Matched MeSH terms: Prognosis
  16. Othman NH, Zin AA
    Asian Pac J Cancer Prev, 2008 Oct-Dec;9(4):747-51.
    PMID: 19256771
    OBJECTIVE: Kelantan in Malaysia has a high prevalence of diabetes and colorectal cancer is also on the rise. This study is to determine the association of metabolic diseases, particularly diabetes type 2 [DM2] and hypertension, with colorectal cancer patients in our population.

    METHODS: This retrospective study was conducted on all colorectal carcinomas in Hospital Universiti Sains Malaysia (HUSM) in Kelantan from ythe ears 2001-2006. The data were retrieved from the Registry in Pathology laboratory and the clinical details from the patients' clinical records and analyzed using SSPS Version 12.0, with a value of p<0.05 taken to be statistically significant.

    RESULTS: 138 CRC cases with complete clinical records were included. The age ranged from 16.0 to 88.0 years, with a mean of 56.9 -/+ SD 15.4. The male 90(65%) to female 48(35%) ratio was 1.7:1.0 and 47.8% were suffering from metabolic diseases; 18(13.0%) with Diabetes Mellitus Type 2(DM2), and 48(34.8%) with hypertension (HT). Diabetes Type 2 and hypertension also demonstrated significant association (p<0.05) with the stage and the site of the cancer. Patients with diabetes type 2 88.8%(16/18) and Hypertension 85.4% (41/48) were strongly associated with cancers located in the distal to transverse colon (p<0.001).

    CONCLUSION: There is a high proportion of metabolic diseases; hypertension and diabetes type 2 among colorectal carcinomas seen in Kelantan population. In this preliminary study we noted a strong association of metabolic diseases with the stage and site of the cancer. To reduce CRC incidence, the high prevalence of DM2 in Kelantan needs to be addressed.
    Matched MeSH terms: Prognosis
  17. Ariffin H, Garcia JC, Daud SS, Ibrahim K, Aizah N, Ong GB, et al.
    Pediatr Blood Cancer, 2009 Jul;53(1):108-11.
    PMID: 19260099 DOI: 10.1002/pbc.21983
    Children with Down syndrome and acute megakaryoblastic leukemia (DS-AMKL) have been shown to have increased sensitivity to cytarabine based chemotherapy. The excellent prognosis in patients with DS-AMKL may be due to mutations in the GATA1 gene leading to reduced expression of the enzyme cytidine deaminase. This leads to a decreased ability to convert cytarabine into its inactive metabolite, resulting in high intracellular concentration of this cytotoxic agent. We report two cases of DS-AMKL with GATA1 mutations who had poor outcome. These patients had high expression levels of cytidine deaminase mRNA transcripts. We speculate that other factors can affect overall outcome in patients with DS-AMKL irrespective of the presence of GATA1 mutations.
    Matched MeSH terms: Prognosis
  18. Velaiutham S, Taib NA, Ng KL, Yoong BK, Yip CH
    Asian Pac J Cancer Prev, 2008 Jul-Sep;9(3):445-8.
    PMID: 18990019
    INTRODUCTION: CA15-3 is a well-known tumour marker for breast cancer. Currently it is not recommended for screening or diagnosis of breast cancer and its main application is in monitoring response to treatment in women with metastatic breast cancer. The aim of this study was to correlate serum CA15-3 at presentation with the stage of disease and overall survival in women with breast cancer in the University Malaya Medical Centre.

    METHODS: This is a retrospective study of 437 women who had CA15-3 levels determined at initial presentation of breast cancer to UMMC between Jan 1999 and Oct 2003.

    RESULTS: Of those patients who were adequately staged, CA15-3 was found to be elevated (defined as >51 U/ml) in 0% of Stage 1, 7.9% of Stage 2, 36.7% of Stage 3 and 68.6% of Stage 4 cases. In a subset of 331 patients with survival data, patients with normal CA15-3 had a 85% five year overall survival rate compared to 38% in their counterparts with elevation of the tumor marker. The level of elevation was also significantly related to survival; patients with values more than 200 U/ml exhibited only a 28% five year survival. The association of elevated CA15-3 at initial presentation with poor outcome was maintained over univariate and multivariate analyses.

    CONCLUSION: Estimation of CA15-3 at presentation of breast cancer is important as it is an independent prognostic indicator and may prompt the physician to investigate for metastases if elevated.
    Matched MeSH terms: Prognosis
  19. Shameem H, Yip CH, Fong E
    Asian Pac J Cancer Prev, 2008 Jul-Sep;9(3):409-12.
    PMID: 18990011
    INTRODUCTION: Mastectomy is an essential but disfiguring operation in cancer treatment. The negative impact on body image can however be prevented by immediate reconstruction.
    AIM: The aim of this study was to determine the reasons why patients choose to have or not to have immediate breast reconstruction.
    METHODOLOGY: This is a cross sectional descriptive study of breast cancer patients post-mastectomy who had and had not undergone immediate breast reconstruction. The patients were asked a series of questions to ascertain the reasons why they chose or did not choose immediate breast reconstruction.
    RESULTS: 136 patients in total were interviewed of which 23 had undergone immediate breast reconstruction. 36.8% of the patients had been offered reconstruction. In the non-reconstructed group, the main reason for not having reconstruction were fear of additional surgery. In the group that had reconstruction done, the main reason was to feel whole again. Low on the list were reasons such as trying to improve marital or sexual relations.
    CONCLUSION: Only a third of patients undergoing mastectomy were offered immediate reconstruction. In public hospitals in developing countries, limited operating time and availability of plastic surgery services are major barriers to more women being offered the option.
    Matched MeSH terms: Prognosis
  20. Watihayati MS, Fatemeh H, Marini M, Atif AB, Zahiruddin WM, Sasongko TH, et al.
    Brain Dev, 2009 Jan;31(1):42-5.
    PMID: 18842367 DOI: 10.1016/j.braindev.2008.08.012
    Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the SMN1 gene. The SMN2 gene is highly homologous to SMN1 and has been reported to be correlated with severity of the disease. The clinical presentation of SMA varies from severe to mild, with three clinical subtypes (type I, type II, and type III) that are assigned according to age of onset and severity of the disease. Here, we aim to investigate the potential association between the number of copies of SMN2 and the deletion in the NAIP gene with the clinical severity of SMA in patients of Malaysian origin. Forty-two SMA patients (14 of type I, 20 type II, and 8 type III) carrying deletions of the SMN1 gene were enrolled in this study. SMN2 copy number was determined by fluorescence-based quantitative polymerase chain reaction assay. Twenty-nine percent of type I patients carried one copy of SMN2, while the remaining 71% carried two copies. Among the type II and type III SMA patients, 29% of cases carried two copies of the gene, while 71% carried three or four copies of SMN2. Deletion analysis of NAIP showed that 50% of type I SMA patients had a homozygous deletion of exon 5 of this gene and that only 10% of type II SMA cases carried a homozygous deletion, while all type III patients carried intact copies of the NAIP gene. We conclude that there exists a close relationship between SMN2 copy number and SMA disease severity, suggesting that the determination of SMN2 copy number may be a good predictor of SMA disease type. Furthermore, NAIP gene deletion was found to be associated with SMA severity. In conclusion, combining the analysis of deletion of NAIP with the assessment of SMN2 copy number increases the value of this tool in predicting the severity of SMA.
    Matched MeSH terms: Prognosis
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