Displaying publications 1 - 20 of 63 in total

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  1. Fulltext A not to be missed cause in a child with atraumatic limp
    Boo WH, Lee PY
    Malays Fam Physician, 2019;14(3):68-70.
    PMID: 32175044
    Children with musculoskeletal symptoms are commonly seen by general practitioners (GPs). Those that present with atraumatic limp pose a particular diagnostic challenge. Although uncommon, Perthes disease (PD) is an important cause of atraumatic limp in children and may result in debilitating consequences if missed. We put forward a case of delayed diagnosis of PD in a child, thus highlighting the need for a greater index of suspicion among GPs in approaching any child with a limp.
  2. Fulltext Accuracy of the funnel technique of thoracic pedicle screws insertion in scoliosis surgery--an evaluation by CT-scans
    Wong CC, Ting F, Wong B, Lee PI
    Med J Malaysia, 2005 Jul;60 Suppl C:35-40.
    PMID: 16381281
    Pedicle screw system has increasingly been used for correction of thoracic scoliosis. It offers several biomechanical advantages over hook system as it controls all three-column of the spine with enhanced stability. Of many techniques of pedicle screw placement in the thoracic spine, the funnel technique has been used in Sarawak General Hospital since 2002. This prospective study aims to assess the accuracy of the placement of thoracic pedicle screws using the funnel technique in the corrective surgery of idiopathic scoliosis. A total of 88 thoracic pedicle screws were inserted into the T4 to T12 vertebrae of 11 patients. Post-operative CT-scan was performed to evaluate the position of the pedicle screw. Seventy six (86.4%) screws were noted to be totally within the pedicle. There was no screw with medial violation of the pedicle, 8 (9.1%) screws breeching the lateral wall of the pedicle and 4 (4.5%) screws with anterior and lateral penetration of the vertebral body. No clinical sequel with the mal-positioned screws was noted. In conclusion, the funnel technique enabled simple, accurate and reliable insertion of pedicle screw even in the scoliotic thoracic spine without the need of any imaging guidance. It is however imperative for the surgeon to have a thorough knowledge of the thoracic spine anatomy, and to be familiar with the technique to insert these screws diligently.
  3. Fulltext Acute gastroenteritis among indigenous paediatric patients – a descriptive study in a rural district hospital, Sarawak
    Cheah, W. L., Lee, P. Y., Kamarudin, K., Syed Alwi, S. A. R., Albela, H., Lau, E. H., et al.
    Malaysian Journal of Medicine and Health Sciences, 2011;7(2):3-7.
    MyJurnal
    Introduction: Acute gastroenteritis (AGE) is one of the frequent causes of hospitalization in children under the age of five, particularly in a rural setting. This study was conducted to determine the epidemiology of acute gastroenteritis in indigenous children admitted to a rural district hospital in Sarawak. Methods: A retrospective review of indigenous paediatrics cases of acute gastroenteritis
    admitted to the ward of Serian District Hospital, a rural district hospital in Sarawak, between the years
    2006-2007. The data was collected from the patients’ case notes, obtained with permission from the
    hospital management. Data was entered and analyzed using SPSS version 16. Results: During the study period, 234 indigenous children with acute gastroenteritis were admitted with the highest prevalence in 2006 (53.4%). The findings showed higher prevalence was found in children aged 3 years and below (76.5%) and male (56.4%) The minimum duration of hospital stay is 1 day, and the maximum stay is 5 days. The clinical findings showed that the majority of the cases presented with vomiting, diarrhea, dry mouth and tongue, sunken eye, with the majority (76%) reported having mild dehydration. The most common treatment used is oral rehydration solutions (85.4%), followed by intravenous bolus or drip (82.3%), paracetamol (79%) and antibiotic (36.2%). Peak incidence of admissions was between November to January. About 38.5% of the AGE cases admitted were found to be underweight (weight for- age below -2SD). Conclusion: The findings indicated children aged 3 years and below are the most vulnerable to AGE and malnutrition could be one of the predisposing factors. The peak incidence during the raining season at the end of the year indicated a possible relationship between AGE and seasonal type of virus infection. Prevention in the form of proper hygiene at the household level probably will prove to be useful.
  4. Adherence to tyrosine kinase inhibitors among adult chronic myeloid leukemia patients in a Malaysia hospital
    Lee PM, Chang CT, Yusoff ZM
    Int J Clin Pharm, 2021 Feb;43(1):46-54.
    PMID: 32524510 DOI: 10.1007/s11096-020-01070-9
    Background Tyrosine kinase inhibitors have been demonstrated to improve the survival of patients with chronic myeloid leukaemia. However, medication adherence is vital for patients on chronic treatment. Objective The objective of the current study was to evaluate response to treatment, adherence by patients to tyrosine kinase inhibitors and factors associated with adherence and response. Setting A haematology clinic in a regional referral hospital in Malaysia. Method Patients aged ≥ 13 years who had been on imatinib or nilotinib for ≥ 12 months were included in this cross-sectional study. An optimal response was defined as the achievement of major molecular response at 12 months of treatment. Patient medication adherence was determined using the average medication possession ratio based on the dispensing records. The patients were considered adherent if the medication possession ratio was > 90%. Multiple logistic regression was performed to evaluate the factors associated with adherence. The association of adherence with molecular response was analysed by univariate logistic regression. Main outcome measure The primary outcome measures were the proportion of patients who achieved optimal response and the medication possession ratio. Results A total of 151 patients were screened, and 71 patients were included. Twenty-eight patients (39%) achieved major molecular response at 12 months of treatment. The median time to achieve this was 15.5 months (an interquartile range of 15). The mean medication possession ratio for imatinib and nilotinib was 0.94 (± 0.14) and 0.96 (± 0.10), respectively, but this difference was without statistical significance (t  =  - 0.517, p  =  0.610). Nausea and vomiting (odds ratio [OR] of 0.25, 95% confidence interval [CI]: 0.07-0.83, p  =  0.023) and disease phase at diagnosis (OR of 0.20, 95% CI 0.04-1.06, p  =  0.059) were associated with patient adherence. An association was not found between patient adherence and molecular response (OR of 1.03, 95% CI 0.35-3.09, p  =  0.956). Conclusion The patients in this study demonstrated a relatively deep molecular response and optimal adherence. Nevertheless, one fourth of them were noncompliant with imatinib. Therefore, active interventions are warranted to prevent treatment-associated adverse events and improve adherence.
  5. An epidemiological study of developmental dysplasia of the hip in infants in Singapore
    Ang KC, Lee EH, Lee PY, Tan KL
    Ann Acad Med Singap, 1997 Jul;26(4):456-8.
    PMID: 9395810
    The incidence of congenital dislocation of the hip (CDH) in Singapore and Malaysia has been reported as being lower than in the West. In our hospital, we have seen an increasing number of congenital hip dislocation as well as dysplastic hips. We undertook a prospective study from December 1989 to December 1994 of 20,000 live births. The neonates were all screened by a consultant neonatologist and the findings were confirmed by a consultant paediatric orthopaedic surgeon. All babies had plain X-rays at 3 months and an acetabular index (AI) of 30 degrees or more was considered dysplastic. All babies with positive signs were followed up for 1 year and again had radiographs taken at 1 year. Comparison of plain X-rays and ultrasound assessment in a subgroup of 130 neonates showed that 64% of patients with AI > 20 degrees had hip dysplasia by ultrasonographic (alpha angle < 60 degrees) The incidence of dysplastic hips was 16.8 per 1000 live births. The overall incidence of neonates with dislocated hips was 4.7 per 1000 live births. The Malays were most affected with an incidence of 5.4 per 1000 live births. The incidence of developmental dysplasia of the hip in Singapore is higher than previously reported, with the Malays having the highest incidence. A significant number of babies with clicking hips have radiological evidence of acetabular dysplasia (AI > 30 degrees). One-third of the babies' hips were still dysplastic at 1 year of age. A well-organised screening programme with experienced examiners has proved to be useful in making early and accurate clinical diagnosis.
  6. Fulltext Anti-malarial and anti-inflammatory effects of Gleichenia truncata mediated through inhibition of GSK3β
    Suhaini S, Liew SZ, Norhaniza J, Lee PC, Jualang G, Embi N, et al.
    Trop Biomed, 2015 Sep;32(3):419-33.
    PMID: 26695202 MyJurnal
    Gleichenia truncata is a highland fern from the Gleicheniaceae family known for its traditional use among indigenous communities in Asia to treat fever. The scientific basis of its effect has yet to be documented. A yeast-based kinase assay conducted in our laboratory revealed that crude methanolic extract (CME) of G. truncata exhibited glycogen synthase kinase-3 (GSK3)-inhibitory activity. GSK3β is now recognized to have a pivotal role in the regulation of inflammatory response during bacterial infections. We have also previously shown that lithium chloride (LiCl), a GSK3 inhibitor suppressed development of Plasmodium berghei in a murine model of malarial infection. The present study is aimed at evaluating G. truncata for its anti-malarial and anti-inflammatory effects using in vivo malarial and melioidosis infection models respectively. In a four-day suppressive test, intraperitoneal injections of up to 250 mg/kg body weight (bw) G. truncata CME into P.berghei-infected mice suppressed parasitaemia development by >60%. Intraperitoneal administration of 150 mg/kg bw G. truncata CME into Burkholderia pseudomallei-infected mice improved survivability by 44%. G. truncata CME lowered levels of pro-inflammatory cytokines (TNF-α, IFN-γ) in serum and organs of B. pseudomallei-infected mice. In both infections, increased phosphorylations (Ser9) of GSK3β were detected in organ samples of animals administered with G. truncata CME compared to controls. Taken together, results from this study strongly suggest that the anti-malarial and anti-inflammatory effects elicited by G. truncata in part were mediated through inhibition of GSK3β. The findings provide scientific basis for the ethnomedicinal use of this fern to treat inflammation-associated symptoms.
  7. Fulltext Association between EGF and VEGF functional polymorphisms and sporadic colorectal cancer in the Malaysian population
    Lau TP, Roslani AC, Lian LH, Lee PC, Hilmi I, Goh KL, et al.
    Genet. Mol. Res., 2014;13(3):5555-61.
    PMID: 25117311 DOI: 10.4238/2014.July.25.9
    Growth factors are polypeptides that are critical for the initiation, progression, and metastasis of cancer. Most tumor cells are capable of synthesizing particular growth factors leading to constitutive pathway activation in these cells through autocrine signaling. Epidermal growth factor (EGF) is a potent mitogenic peptide that exerts direct effects on the proliferation and differentiation of tumor cells in carcinogenesis. By contrast, vascular endothelial growth factor (VEGF) is vital for the invasion and metastasis of neoplasms through the formation of new blood vessels from mature endothelial cells. In this study, we investigated the association between functional polymorphisms of both the EGF and VEGF genes and colorectal cancer (CRC) susceptibility. A total of 130 CRC patients and 212 healthy controls were recruited for this case-control study. Genotyping of genetic variants was conducted via real-time polymerase chain reaction (PCR) amplification with allele-specific TaqMan probes. None of the genotypes of the EGF +61 A>G and VEGF +936 C>T variants was significantly associated with CRC susceptibility among the Malaysian subjects evaluated (P > 0.05). The observed frequency distributions of the EGF +61 A>G polymorphism genotypes showed ethnic heterogeneity, which was not the case for the VEGF +936 C>T genotypes. In conclusion, no positive correlation between these functional polymorphisms and CRC risk was found in this Malaysian population. Studies of the EGF and VEGF genes and CRC susceptibility are scarce, and the results reported thus far differ from one population to another. Hence, more replication studies are warranted before any firm conclusions can be made.
  8. Fulltext Asthma control and prior medical care of patients presenting with acute asthma at the emergency department
    Lee PY, Khoo EM
    Med J Malaysia, 2003 Oct;58(4):482-9.
    PMID: 15190622
    Seventy patients presented with acute asthma at the emergency department of the University of Malaya Medical Centre, Kuala Lumpur were recruited over a two-week period in July 2001. Fifty-one (73%) patients belonged to the poorly controlled group. Fifty-seven (81%) patients were using inhaled salbutamol but 21 (30%) were still using oral short acting salbutamol. Only 32 (46%) patients used inhaled corticosteroids. In the poorly controlled group, 22 (43.1%) patients were not on regular inhaled corticosteroids, 35 (68.6%) were not receiving "add-on" medication and 18 (35%) did not have regular follow up. The emergency department should implement a protocol for asthma management and follow up to achieve better long term patient care.
  9. Fulltext Awareness of colorectal cancer among the urban population in the Klang Valley
    Sindhu CK, Nijar AK, Leong PY, Li ZQ, Hong CY, Malar L, et al.
    Malays Fam Physician, 2019;14(3):18-27.
    PMID: 32175037
    Background: Colorectal cancer (CRC) is the second most common cancer in Malaysia. Awareness of risk factors, symptoms and warning signs of CRC will help in early detection. This paper presents the level of CRC awareness among the urban population in Malaysia.
    Method: A cross-sectional study was conducted from November 2015 till December 2016 at three government clinics in the Klang Valley. The validated Bowel Cancer Awareness Measure questionnaire in both English and Malay was used. The mean knowledge scores for the warning signs and risk factors of CRC in different socio-demographic groups were compared using ANOVA in SPSS version 23. Statistical significance was set at p<0.05 and a 95% confidence level.
    Results: Of the 426 respondents, 29.1% were unable to recall the warning signs and symptoms of CRC. Average recall was less than two warning signs and symptoms (mean 1.62, SD 1.33). The mean total knowledge score for CRC was 9.91 (SD 4.78), with a mean knowledge scores for warning signs and risk factors at 5.27 (SD 2.74) and 4.64 (SD 2.78), respectively. Respondents with a higher level of education were found to have higher level of knowledge regarding the warning signs of CRC. There was a significant positive association between knowledge score for warning signs and level of confidence in detecting warning signs. Regarding the total knowledge score for CRC, 3.3% of respondents scored zero. For warning signs and risk factors, 8.2% and 8.5% of respondents had zero knowledge scores, respectively.
    Conclusions: Generally, awareness of CRC is poor among the urban population of Klang Valley. Greater education and more confidence in detecting warning signs are significantly associated with better knowledge of warning signs. CRC awareness programs should be increased to improve awareness.
  10. Bioefficacy Evaluation of Commercial Mosquito Coils Containing Metofluthrin, d-Allethrin, d-Trans Allethrin, and Prallethrin Against Aedes albopictus (Diptera: Culicidae) in Malaysia
    Chen CD, Chin AC, Lau KW, Low VL, Lee HL, Lee PKY, et al.
    J Med Entomol, 2018 10 25;55(6):1651-1655.
    PMID: 30085203 DOI: 10.1093/jme/tjy130
    The bioefficacy of commercial mosquito coils containing four different active ingredients, namely metofluthrin, d-allethrin, d-trans allethrin, and prallethrin against Aedes albopictus (Skuse) (Diptera: Culicidae) from 10 states in Malaysia, was evaluated using the glass chamber method. In this study, Ae. albopictus exhibited various knockdown rates (50% knockdown time, KT50), ranging from 2.50 to 5.00 min, 2.50 to 7.00 min, 3.00 to 8.00 min, and 5.00 to 17.00 min for metofluthrin, d-trans allethrin, d-allethrin, and prallethrin, respectively. Overall, all strains of Ae. albopictus were most susceptible to metofluthrin, with mortality rates >80%. On the other hand, mortality rates ranging from 5.0 to 100% were observed from all populations exposed to d-trans allethrin, d-allethrin, and prallethrin. In addition, significant correlations between KT50 of metofluthrin and d-allethrin (r = 0.758, P = 0.011), metofluthrin and prallethrin (r = 0.676, P = 0.032), d-allethrin and d-trans allethrin (r = 0.832, P = 0.003), d-allethrin and prallethrin (r = 0.921, P = 0.000), and d-trans allethrin with prallethrin (r = 0.941, P = 0.000) were detected, suggesting some levels of cross-resistance within the pyrethroid insecticides. This study demonstrated that metofluthrin can induce high insecticidal activity in Ae. albopictus in Malaysia, followed by d-trans allethrin, d-allethrin, and prallethrin.
  11. Bioinformatics characterization of Plasmodium knowlesi apical membrane antigen 1 (PkAMA1) for multi-epitope vaccine design
    Azazi A, Haron FN, Chua KH, Lim YAL, Lee PC, Chew CH
    Trop Biomed, 2021 Sep 01;38(3):265-275.
    PMID: 34362869 DOI: 10.47665/tb.38.3.067
    Malaria caused by Plasmodium knowlesi species has become a public health concern, especially in Malaysia. Plasmodium knowlesi parasite which originates from the macaque species, infects human through the bite of the Anopheles mosquitoes. Research on malaria vaccine has been a continuous effort to eradicate the malaria infection, yet there is no vaccine against P. knowlesi malaria to date. Apical membrane antigen 1 (AMA1) is a unique surface protein of all apicomplexan parasites that plays a crucial role in parasite-host cell invasion and thus has been a long-standing malaria vaccine candidate. The selection of protective epitopes in silico has led to significant advances in the design of the vaccine. The present study aimed to employ bioinformatics tools to predict the potential immunogenic B- and T-cell epitopes in designing malaria vaccine targeting P. knowlesi AMA1 (PkAMA1). B-cell epitopes were predicted using four bioinformatics tools, i.e., BepiPred, ABCpred, BcePred, and IEDB servers whereas T-cell epitopes were predicted using two bioinformatics servers, i.e., NetMHCpan4.1 and NetMHCIIpan-4.0 targeting human major histocompatibility complex (MHC) class I and class II molecules, respectively. The antigenicity of the selected epitopes computed by both B- and T-cell predictors were further analyzed using the VaxiJen server. The results demonstrated that PkAMA1 protein encompasses multi antigenic regions that have the potential for the development of multi-epitope vaccine. Two B- and T-cell epitopes consensus regions, i.e., NSGIRIDLGEDAEVGNSKYRIPAGKCP (codons 28-54) and KTHAASFVIAEDQNTSY RHPAVYDEKNKT (codons 122-150) at domain I (DI) of PkAMA1 were reported. Advancement of bioinformatics in characterization of the target protein may facilitate vaccine development especially in vaccine design which is costly and cumbersome process. Thus, comprehensive B-cell and T-cell epitope prediction of PkAMA1 offers a promising pipeline for the development and design of multi-epitope vaccine against P. knowlesi.
  12. Biomarkers for colorectal cancer chemotherapy: Recent updates and future perspective
    Lee PY, Md Azhan FS, Low TY
    Malays J Pathol, 2023 Dec;45(3):317-331.
    PMID: 38155375
    During the last few decades, the treatment options available for patients with metastatic colorectal cancer (mCRC) have undergone continuous improvements, transitioning from conventional chemotherapy to targeted therapy. These therapeutic innovations have led to significant improvements in patient clinical outcomes. However, there remains a need to improve the outcome for many CRC patients. Chemotherapy remains a cornerstone of CRC treatment, but the wide variability in tumour response and adverse reactions to chemotherapy poses a challenge to cancer treatment management. As a result, there is an unmet need to identify predictive biomarkers of chemotherapeutic response to guide treatment decisions. In this review, we summarise the conventional biomarkers used to predict chemotherapy responses in CRC and provide an overview of emerging predictive biomarkers based on the current understanding of the molecular biology of treatment response. Finally, we explore the challenges and future prospects of biomarker discovery to improve the prediction of patient response and ensure optimal treatment management for patients with metastatic CRC.
  13. Bodyweight status misperception among reproductive-aged women in primary care settings
    Sahiran MF, Lee PY, Mawardi M, Mohd Azizi F
    Malays Fam Physician, 2020;15(3):62-73.
    PMID: 33329864
    Introduction: It is common, and many international and local studies confirm this, that women of reproductive age misperceive their body-weight status. This phenomenon can lead to their being less likely to adopt a healthy lifestyle which later exposes them to increased health problems and risks including those of a gynecological and obstetric nature. Generally, there have been inconsistent findings concerning the association between the self-perceived weight status and sociodemographic factors, physical activities, and previous weight loss attempts of women of reproductive age in an Asian population like Malaysia.

    Objective: This study aimed to determine the factors associated with body weight status misperception among reproductive-aged women at a primary care setting in Malaysia.

    Methods: This is a cross-sectional study conducted at Klinik Kesihatan Durian Tunggal in 2016-2017. The questionnaire included questions on the perception of weight status, sociodemographic factors, smoking status, level of physical activity, and weight loss attempts. Logistic regressions were used for statistical analysis to examine the association between body weight status misperception and related factors.

    Results: The study recruited 630 reproductive-aged women. The mean age and SD of the respondents was 32.7 + 8.9 years, and 84% of the respondents were Malays. More than three-quarters of the respondents (75.5%, n = 476) had received up to a secondary level of education. The majority of the respondents were in the overweight/obese group (59.4%, n = 374). The mean BMI of the respondents was 27.1 kg/m2 + 6.61. Approximately 65.4% (n = 412) of the respondents had an inactive lifestyle. However, 60% (n = 378) of the respondents reported that they had attempted to reduce their weight in the last year. A total of 141 respondents (22.4%) misperceived their weight status with 113 (80.1% ) of them underestimating their weight status. Women with primary-level education (OR: 3.545, 95% CI: 1.530-8.215, p = 0.003) and secondary-level education (OR: 1.933, 95% CI: 1.065-3.510, p = 0.030) had a greater likelihood of misperceiving their body weight status as compared to those who have a tertiary level of education. Women with no weight loss attempts were also at risk of body weight status misperception (OR: 1.850, 95% CI: 1.195, 2.865, p = 0.006).

    Conclusion: Bodyweight status misperception among reproductive-aged women was associated with a low level of education and with those who had made no weight loss attempts. Identifying women who are at risk of misperceiving their weight status would enable early counseling on weight management.

  14. Fulltext COVID-19: Four Paediatric Cases in Malaysia
    See KC, Liew SM, Ng DCE, Chew EL, Khoo EM, Sam CH, et al.
    Int J Infect Dis, 2020 May;94:125-127.
    PMID: 32304822 DOI: 10.1016/j.ijid.2020.03.049
    OBJECTIVE: This is a brief report of 4 paediatric cases of COVID-19 infection in Malaysia BACKGROUND: COVID-19, a coronavirus, first detected in Wuhan, China has now spread rapidly to over 60 countries and territories around the world, infecting more than 85000 individuals. As the case count amongst children is low, there is need to report COVID-19 in children to better understand the virus and the disease.

    CASES: In Malaysia, until end of February 2020, there were four COVID-19 paediatric cases with ages ranging from 20 months to 11 years. All four cases were likely to have contracted the virus in China. The children had no symptoms or mild flu-like illness. The cases were managed symptomatically. None required antiviral therapy.

    DISCUSSION: There were 2 major issues regarding the care of infected children. Firstly, the quarantine of an infected child with a parent who tested negative was an ethical dilemma. Secondly, oropharyngeal and nasal swabs in children were at risk of false negative results. These issues have implications for infection control. Consequently, there is a need for clearer guidelines for child quarantine and testing methods in the management of COVID-19 in children.

  15. Changing needs of future patients: How do healthcare delivery adapt?
    Lee PY
    Malays Fam Physician, 2019;14(2):1.
    PMID: 31827728
  16. Fulltext Childhood obesity, self-esteem and health-related quality of life among urban primary schools children in Kuching, Sarawak, Malaysia
    Lee PY, Cheah Wl, Chang CT, Siti Raudzah G
    Malays J Nutr, 2012 Aug;18(2):207-19.
    PMID: 24575667 MyJurnal
    There is limited data on childhood obesity and its impact on children from diverse cultural backgrounds. This study is aimed at determining the association between obesity, self-esteem and health-related quality of life (HRQOL) among Malaysian urban primary school children of different ethnicity.
  17. Chromium(III) sorption enhancement through NTA--modification of biological materials
    Low KS, Lee CK, Lee PL
    Bull Environ Contam Toxicol, 1997 Mar;58(3):380-6.
    PMID: 9008046
  18. Fulltext Clinical observations of hydatidiform moles in a Malaysian hospital
    Ong HC, Lee PYA, Ng TK, Chong CH
    Singapore Med J, 1978 Mar;19(1):33-6.
    PMID: 663681
    A retrospective analysis of 102 cases of hydatidiform moles seen in the Maternity Hospital, Kuala Lumpur, Malaysia, is presented. The incidence was 1 : 669. The tumour was more common In the Malays and in the lower social class patients. No specific age group or parity group was exempted. Vaginal bleeding and amenorrhoea were prominent features. Hyperemesis and abdominal cramps occurred less commonly. The uterine size was larger than dates in 62.7% of patients. Pre-eclampsia complicated 23.5% of the moles and Its severity was inversely related to the uterine size. Spontaneous abortion occurred In 57.8% of patients at a mean gestational period of 19 weeks.

    Study site: Maternity Hospital Kuala
    Lumpur, Malaysia
  19. Competitive binding of gangliosides and glycophorin to wheat germ agglutinin
    Lee PM, Lee KH
    Biochem Biophys Res Commun, 1989 Apr 28;160(2):780-7.
    PMID: 2719696
    Gangliosides and glycophorin are receptors for wheat germ agglutinin. The competitive binding of these molecules to wheat germ agglutinin is studied by electron spin resonance spectroscopy with spin labels attached to the oligosaccharide chains of gangliosides. Evidence shows that glycophorin is more accessible to wheat germ agglutinin binding than gangliosides. The interactions of gangliosides and glycophorin in liposomes is disrupted on low level binding of WGA.
  20. Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency
    Yang W, Lee PP, Thong MK, Ramanujam TM, Shanmugam A, Koh MT, et al.
    Clin Genet, 2015 Dec;88(6):542-9.
    PMID: 25534311 DOI: 10.1111/cge.12553
    Familial multiple intestinal atresias is an autosomal recessive disease with or without combined immunodeficiency. In the last year, several reports have described mutations in the gene TTC7A as causal to the disease in different populations. However, exact correlation between different genotypes and various phenotypes are not clear. In this study, we report identification of novel compound heterozygous mutations in TTC7A gene in a Malay girl with familial multiple intestinal atresias and severe combined immunodeficiency (MIA-SCID) by whole exome sequencing. We found two mutations in TTC7A: one that destroyed a putative splicing acceptor at the junction of intron 17/exon 18 and one that introduced a stop codon that would truncate the last two amino acids of the encoded protein. Reviewing the recent reports on TTC7A mutations reveals correlation between the position and nature of the mutations with patient survival and clinical manifestations. Examination of public databases also suggests carrier status for healthy individuals, making a case for population screening on this gene, especially in populations with suspected frequent founder mutations.
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