ObjectiveThalassaemia is the most common inherited blood disorder in Malaysia. This study aims to report the current status of thalassaemia in Malaysia and provide a comprehensive understanding of ...the disease through data obtained from the Malaysian Thalassaemia Registry.DesignData were extracted from the Malaysian Thalassaemia Registry, a web-based system accessible to enrolled users through www.mytalasemia.net.my.SettingThe Malaysian Thalassaemia Registry data was recorded from reports obtained from 110 participating government and university hospitals in Malaysia.ParticipantsThe patients were those attending the 110 participating hospitals for thalassaemia treatment.InterventionData were collected from the Malaysian Thalassaemia Registry from 2007 until the fourth quarter of 2018.Primary outcome measure7984 out of 8681 patients with thalassaemia registered in the Malaysian Thalassaemia Registry were reported alive.ResultsMajority of the patients were reported in the state of Sabah (22.72%); the largest age group affected was 5.0–24.9 years old (64.45%); the largest ethnic group involved was Malay (63.95%); and the major diagnosis was haemoglobin E/β-thalassaemia (34.37%). From the 7984 patients, 56.73% were on regular blood transfusions and 61.72% were on chelation therapy. A small fraction (14.23%) has undergone splenectomy, while the percentage of patients with severe iron overload (serum ferritin ≥5000 µg/L) reduced over time. However, cardiac complications are still the main cause of death in patients with thalassaemia.ConclusionData gathered into the registry can be used to understand the progression of the disorder, to monitor iron overload management and to improve the outcomes of treatment, to enhance preventive strategies, reduce healthcare burden and improve the quality of life. Sustainability of the Malaysian Thalassaemia Registry is important for surveillance of thalassaemia management in the country and help the national health authorities to develop more effective policies.
Intravenous cannulation is experientially traumatic to children. To minimize this, EMLA® is applied on the would-be-cannulated area before IV cannula insertion. However, the time to achieve its ...maximum efficacy may be affected due to incomplete cutaneous absorption and the duration of application. The latter may be a limiting factor in a busy healthcare facility. The usage of dissolvable maltose microneedles may circumvent this problem by introducing micropores that will facilitate EMLA® absorption. A randomized phase II cross-over trial will be conducted to compare the Visual Analogue Scale (VAS) pain scores and skin conductance algesimeter index between 4 different interventions (1 fingertip unit (FTU) of EMLA® with microneedle patch for 30 min before cannulation; 0.5 FTU of EMLA® with microneedle patch for 30 min; 1 FTU of EMLA® with microneedle for 15 min; 1 FTU of EMLA® with sham patch for 30 min). A total of 26 pediatric patients with thalassemia aged between 6 and 18 years old and requiring blood transfusion will be recruited in this trial. During the visits, the VAS scores and skin conductance algesimeter index at venous cannulation will be obtained using the VAS rulers and PainMonitor™ machine, respectively. The trial will commence in August 2021 and is anticipated to end by August 2022.
Timely and relevant information helps parents to cope when a child is diagnosed with cancer. However, obtaining and understanding information is not a straightforward process for parents.
This ...article aims to explain paediatric cancer parents' information behaviour related to the care of their child.
Qualitative in-depth interviews were conducted with fourteen Malaysian paediatric cancer parents and eight healthcare professionals who worked with paediatric cancer patients. Reflexivity and inductive approaches were used to interpret the data to identify meaningful themes and subthemes.
Three themes about how paediatric cancer parents interact with information emerged: Acquiring information, internalising information, and using information. Information may be actively sought or passively acquired. Cognitive and affective aspects influence how information is internalised into meaningful knowledge. Knowledge then leads to further action including further information gathering.
Paediatric cancer parents need health literacy support to meet their information needs. They require guidance in identifying and appraising suitable information resources. Development of suitable supporting materials is needed to facilitate parents' ability to comprehend information related to their child's cancer. Understanding parents' information behaviour could assist healthcare professionals in providing information support in the context of paediatric cancer.
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BFBNIB, DOBA, FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, SIK, UILJ, UKNU, UL, UM, UPUK
Severe combined immunodeficiency (SCID) is fatal unless treated with hematopoietic stem cell transplant. Delay in diagnosis is common without newborn screening. Family history of infant death due to ...infection or known SCID (FH) has been associated with earlier diagnosis.
The aim of this study was to identify the clinical features that affect age at diagnosis (AD) and time to the diagnosis of SCID.
From 2005 to 2016, 147 SCID patients were referred to the Asian Primary Immunodeficiency Network. Patients with genetic diagnosis, age at presentation (AP), and AD were selected for study.
A total of 88 different SCID gene mutations were identified in 94 patients, including 49
mutations, 12
mutations, 8
mutations, 7
mutations, 4
mutations, 4
mutations, 2
mutations, and 2
mutations. A total of 29 mutations were previously unreported. Eighty-three of the 94 patients fulfilled the selection criteria. Their median AD was 4 months, and the time to diagnosis was 2 months. The commonest SCID was X-linked (
= 57). A total of 29 patients had a positive FH. Candidiasis (
= 27) and bacillus Calmette-Guérin (BCG) vaccine infection (
= 19) were the commonest infections. The median age for candidiasis and BCG infection documented were 3 months and 4 months, respectively. The median absolute lymphocyte count (ALC) was 1.05 × 10
/L with over 88% patients below 3 × 10
/L. Positive FH was associated with earlier AP by 1 month (
= 0.002) and diagnosis by 2 months (
= 0.008), but not shorter time to diagnosis (
= 0.494). Candidiasis was associated with later AD by 2 months (
= 0.008) and longer time to diagnosis by 0.55 months (
= 0.003). BCG infections were not associated with age or time to diagnosis.
FH was useful to aid earlier diagnosis but was overlooked by clinicians and not by parents. Similarly, typical clinical features of SCID were not recognized by clinicians to shorten the time to diagnosis. We suggest that lymphocyte subset should be performed for any infant with one or more of the following four clinical features: FH, candidiasis, BCG infections, and ALC below 3 × 10
/L.
Study background
Thalassemia is the commonest genetic blood disorder in Malaysia which requires life-long blood transfusions. From a total of 7,984 thalassemia patients in Malaysia, adolescent age ...group account for the highest number of patients (2,680 patients, 33.57%). In developed countries, the average rate of adherence to long-term treatment among children and adolescents is only 58%. Sub-optimal adherence to iron chelation therapy may impact the outcome and quality of life in these patients. Thus, assessing adherence level and identification of risk factors for non-adherence is essential in optimizing management.
Objectives
To determine the association between mean serum ferritin level with self-reported level of adherence to iron chelation therapy in transfusion dependent thalassemia (TDT) adolescents in Hospital Tengku Ampuan Afzan (HTAA), Kuantan and Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM), Cheras; to determine the association between socio-demographic factors and patients’ knowledge on thalassemia and iron chelation therapy with the level of adherence.
Materials and methods
This was a cross-sectional study conducted between 1st March 2019 and 31st March 2020. Data was collected through face-to-face interview by a single interviewer during the thalassemia clinic follow up, with content validated questionnaires. The questionnaires comprised four sections which included socio-demographic data, medication adherence questionnaire, knowledge of disease, and clinical characteristics of the participants.
Results
A total of 70 participants were recruited. Results showed that only 51.4% of participants had good adherence to iron chelation therapy. There was a significant association between monthly household incomes of the family with the level of adherence to iron chelation (
p
-value 0.006). There was also an association between the mean serum ferritin levels with total Adherence Starts with Knowledge (ASK-12) score (
p
-value 0.001). However, there was no association between knowledge on thalassemia with the level of adherence.
Conclusion
Adherence to iron chelation was generally unsatisfactory amongst adolescents with TDT as only 51.4% had good adherence. Low monthly household income of the family may affect adherence to iron chelation therapy in TDT patients. As adherence remains to be an issue amongst adolescent thalassemia patients, management should include regular and objective assessments to address this problem so as to optimize patient outcome.
The Malaysian Node of the Human Variome Project (MyHVP) is one of the eighteen official Human Variome Project (HVP) country-specific nodes. Since its inception in 9(th) October 2010, MyHVP has ...attracted the significant number of Malaysian clinicians and researchers to participate and contribute their data to this project. MyHVP also act as the center of coordination for genotypic and phenotypic variation studies of the Malaysian population. A specialized database was developed to store and manage the data based on genetic variations which also associated with health and disease of Malaysian ethnic groups. This ethnic-specific database is called the Malaysian Node of the Human Variome Project database (MyHVPDb).
Currently, MyHVPDb provides only information about the genetic variations and mutations found in the Malays. In the near future, it will expand for the other Malaysian ethnics as well. The data sets are specified based on diseases or genetic mutation types which have three main subcategories: Single Nucleotide Polymorphism (SNP), Copy Number Variation (CNV) followed by the mutations which code for the common diseases among Malaysians. MyHVPDb has been open to the local researchers, academicians and students through the registration at the portal of MyHVP ( http://hvpmalaysia.kk.usm.my/mhgvc/index.php?id=register ).
This database would be useful for clinicians and researchers who are interested in doing a study on genomics population and genetic diseases in order to obtain up-to-date and accurate information regarding the population-specific variations and also useful for those in countries with similar ethnic background.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Osteogenesis imperfecta (OI) is a rare genetic bone disease characterized by bone fragility and low bone mass. OI was mainly caused by genetic mutations in collagen genes, COL1A1 and COL1A2. ...Nevertheless, new genes have been identified to be causally linked to OI. The clinical features between each OI groups share great similarities and it is sometimes difficult for clinicians to diagnose the disease accurately. Here, we identify the genetic mutations of OI patients from Malaysia and correlate the genetic mutations with the clinical features.
Targeted sequencing of fourteen genes panel was performed to identify the mutations in 29 OI patients with type I, III, IV and V disease. The mutations were determined using Ion Torrent Suite software version 5 and variant annotation was conducted using ANNOVAR. The identified mutations were confirmed using Sanger sequencing and in silico analysis was performed to evaluate the effects of the candidate mutations at protein level.
Majority of patients had mutations in collagen genes, 48% (n = 14) in COL1A1 and 14% (n = 4) in COL1A2. Type I OI was caused by quantitative mutations in COL1A1 whereas most of type III and IV were due to qualitative mutations in both of the collagen genes. Those with quantitative mutations had milder clinical severity compared to qualitative mutations in terms of dentinogenesis imperfecta (DI), bone deformity and the ability to walk with aid. Furthermore, a few patients (28%, n = 8) had mutations in IFITM5, BMP1, P3H1 and SERPINF1.
Majority of our OI patients have mutations in collagen genes, similar to other OI populations worldwide. Genotype-phenotype analysis revealed that qualitative mutations had more severe clinical characteristics compared to quantitative mutations. It is crucial to identify the causative mutations and the clinical severity of OI patients may be predicted based on the types of mutations.
•Osteogenesis Imperfecta (OI) is a rare genetic bone disease characterize by bone fragility and low bone mass.•Mutations in collagen genes COL1A1 and COL1A2 are the most common cause of OI.•Mutation profiles in Malaysian OI patients were similar with other mutations discovered in different regions.•Quantiative mutations (splice site, frameshift) caused milder phenotypes compared to qualitative mutations.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK, ZRSKP
Background: In pediatric patients, video-assisted thoracoscopic surgery (VATS) is usually carried out using three to five working ports. The port-less technique (PLT) means only one or two ports are ...used; in most cases only the telescope would require a port. At our center, the VATS services were started in 2008, initially using the standard three-ports technique but shortly after this was replaced with PLT for all neonatal and pediatric VATS. The rationale of doing PLT was so that working instruments could move easier in the pediatric thoracic cavity. Furthermore, budget constraints did not allow us to purchase trocars of different sizes. Patients and methods: A review of all PLT cases was carried out at our institution from January 2008 to September 2018. We documented the diagnosis and type of surgery performed, age at surgery, number of ports used, conversion rate, morbidity and mortality as well as gross chest wall growth. Results: A total of 46 PLT cases were carried out; 16 were in neonates (34.7%). Conversion to thoracotomy occurred in five patients (10.8%). Diagnosis ranged from congenital anomalies like esophageal atresia to infective cause like empyema thoracis. Immediate morbidity occurred in four patients (8.7%) and there was one perioperative mortality (2.2%). The majority of PLTs (54%) were using two ports, and another 46% of PLTs were successfully carried out using one port. All neonatal and infant PLT cases were using one port (46%). Maximum follow-up was for 5 years and gross growth of chest wall was good. Conclusion: PLT is a feasible and safe technique for a variety of cases for neonatal and pediatric surgical intrathoracic pathology. We recommend PLT for all neonatal and pediatric VATS. Keywords: pediatric, thoracoscopy, VATS, port-less
Aim: Local anaesthetic cream (EMLA) is often used for paediatric procedural pain management. However, there are concerns about dependency on pain medication. A healthier alternative would be to use ...music listening intervention instead. This study aimed to test the effectiveness of music listening intervention in managing pain for infants undergoing venepuncture procedures in comparison to using EMLA. Materials and Methods: The research was conducted in two phases-in the first phase, surveys were conducted to determine the spectrum of popular Malaysian folk songs for children in nursery schools, and the selection of songs was then rearranged in an instrumental form to be played in the experimental phase. The experimental phase is the second part which involved the focus and control groups of infants that required venepuncture procedures. The focus group was given music listening intervention during the procedure while the control group was given EMLA. Results: The results revealed that there was no statistical difference between the two groups in pain management. Conclusion: This study shows that music listening intervention is comparable to EMLA cream in the management of venepuncture pain based on physiological response and pain behavioural score. Keywords: Music listening intervention, local anaesthetic cream, venepuncture, pain management, infants
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
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