Displaying publications 1 - 20 of 36 in total

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  1. Adnan NA, Breen E, Tan CA, Wang CC, Jalaludin MY, Lum LCS
    BMC Pediatr, 2024 Jan 23;24(1):74.
    PMID: 38263022 DOI: 10.1186/s12887-023-04277-7
    BACKGROUND: Iron deficiency (ID) is prevalent in Malaysian children. The incidence of ID in infants under 6 months of age is unknown. Our aim was to determine the prevalence of iron deficiency (ID) and iron deficiency anemia (IDA) in healthy, term infants aged below 6 months in our hospital population.

    METHODS: A prospective longitudinal pilot study of mother-infant pairs was conducted on infants receiving routine immunizations in a mother and child clinic at a university hospital, in Kuala Lumpur, Malaysia. Mothers completed standardized questionnaires at 3- and 5-month postnatal visits. Maternal and infant full blood count, ferritin, and C-reactive protein (CRP) levels were measured at 3 months and for the infants repeated at 5 months. Infant anthropometric measurements were obtained at both visits. We conducted a univariate analysis to identify factors associated with ID and IDA.

    RESULTS: Altogether, 91 mother-infant pairs were enrolled, with 88 completing the study. No infant had ID or IDA at 3 months; the lowest ferritin level was 16.6 µg/L. At 5 months, 5.9% (5/85) of infants had ID, and 2.4% (2/85) had IDA. Median (interquartile range) infant ferritin levels significantly declined from 113.4 (65.0-183.6) µg/L at 3 months to 50.9 (29.2-70.4) µg/L at 5 months, p 

  2. Tan SL, Ahmad Narihan MGB, Koa AJ
    BMC Pediatr, 2023 Oct 28;23(1):541.
    PMID: 37898736 DOI: 10.1186/s12887-023-04376-5
    BACKGROUND: Coffin-Lowry syndrome (CLS) is a rare X-linked condition with intellectual disability, growth retardation, characteristic facies and skeletal anomalies. To date, hypertriglyceridemia has not been reported in literature to be associated with CLS.

    CASE PRESENTATION: Herein, we report a case of very severe hypertriglyceridemia 32 mmol/L (2834 mg/dL) detected incidentally at three months old in an otherwise well boy born late preterm with intrauterine growth restriction, when he presented with lipaemic plasma. He was later diagnosed with CLS. No pathogenic mutations were found for hypertriglyceridemia, and no secondary causes could explain his very severe hypertriglyceridemia.

    CONCLUSIONS: The very severe hypertriglyceridemia in this case may appear to be a serious presentation of an unrecognised clinical feature of CLS, further expanding its phenotype.

  3. Yunitasari E, Al Faisal AH, Efendi F, Kusumaningrum T, Yunita FC, Chong MC
    BMC Pediatr, 2022 Dec 21;22(1):727.
    PMID: 36539759 DOI: 10.1186/s12887-022-03728-x
    BACKGROUND: Complementary foods with breastfeeding are foods or drinks given to children aged 6-23 months to meet their nutritional needs. The non-optimal provision of complementary feeding influences malnutrition in children of this age.

    AIMS: To analyze the factors associated with complementary feeding practices among children aged 6-23 months in Indonesia.

    METHODS: A cross-sectional design was employed using data from the 2017 Indonesia Demographic and Health Survey. A total of 502,800 mothers with children aged 6-23 months were recruited through multistage cluster sampling. Data were analyzed using a logistic regression test to determine the correlation between predisposing, enabling, and reinforcing factors and complementary feeding practices.

    RESULTS: A prevalence values of analysis showed that approximately 71.14%, 53.95%, and 28.13% of the children met MMF, MMD, and MAD, respectively. The probability of achieving minimum dietary diversity (MDD) was high in the following: children aged 18-23 months (odds ratio [OR] = 9.58; 95% confidence interval [CI] = 7.29-12.58), children of mothers with higher education (OR = 5.95; 95% CI = 2.17-16.34), children from households with upper wealth index (OR = 2.53; 95% CI = 1.85-3.48), children of mothers who received childbirth assistance by professionals (OR = 1.63; 95% CI = 1.20-2.20), and children of mothers who had access to the Internet (OR = 1.26; 95% CI = 1.06-1.50). Moreover, children from households with the upper wealth index (OR = 1.40; 95% CI = 1.03-1.91), children whose mothers were employed (OR = 1.19; 95% CI = 1.02-1.39) living in urban areas (OR = 1.28; 95% CI = 1.06-1.54) and children of mothers who received childbirth assistance by professionals (OR = 1.33; 95% CI = 0.98-1.82) were more likely to meet Minimum Meal Frequency (MMF). Finally, children aged 18-23 months (OR = 2.40; 95% CI = 1.81-3.17), of mothers with higher education (OR = 3.15; 95% CI = 0.94-10.60), from households with upper wealth index (OR = 1.41; 95% CI = 1.05-2.90) and born with professional childbirth assistance (OR = 1.82; 95% CI = 1.21-2.75) were significantly associated with minimum acceptable diet (MAD).

    CONCLUSIONS: The findings revealed that the prevalence of MDD and MAD in Indonesia was low. Strategies such as improving health services, economic conditions, and education level of mothers are needed to improve infant and young child feeding in Indonesia.

  4. Ayed M, Embaireeg A, Kartam M, More K, Alqallaf M, AlNafisi A, et al.
    BMC Pediatr, 2022 May 30;22(1):319.
    PMID: 35637442 DOI: 10.1186/s12887-022-03359-2
    BACKGROUND: An increasing proportion of women are infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) during pregnancy. Intrauterine viral infections induce an increase in the levels of proinflammatory cytokines, which inhibit the proliferation of neuronal precursor cells and stimulate oligodendrocyte cell death, leading to abnormal neurodevelopment. Whether a maternal cytokine storm can affect neonatal brain development is unclear. The objective of the present study was to assess neurodevelopmental outcomes in neonates born to mothers with SARS-CoV-2 infections during pregnancy.

    METHODS: In this prospective cohort study, the neurodevelopmental status of infants (N = 298) born to women with SARS-CoV-2 infections during pregnancy was assessed at 10-12 months post-discharge using the Ages and Stages Questionnaire, 3rd edition (ASQ-3). The ASQ-3 scores were classified into developmental delays (cutoff scores ≤ 2 standard deviations (SDs) below the population mean) and no delays (scores > 2 SDs above the population mean).

    RESULTS: The majority (90%) of the infants born to mothers with SARS-CoV-2 infections during pregnancy had favorable outcomes and only 10% showed developmental delays. Two of the 298 infants tested positive for SARS-CoV-2, and both had normal ASQ-3 scores. The majority of the pregnant women had SARS-CoV-2 infections during their third trimester. The risk of developmental delays among infants was higher in those whose mothers had SARS-CoV-2 infections during the first (P = 0.039) and second trimesters (P = 0.001) than in those whose mothers had SARS-CoV-2 infections during the third trimester.

    CONCLUSION: The neurodevelopmental outcomes of infants born to mothers with SARS-CoV-2 infections seem favorable. However, more studies with larger sample sizes and longer follow-up periods are required.

  5. Ahmad A, Zulaily N, Shahril MR, Wafa SW, Mohd Amin R, Piernas C, et al.
    BMC Pediatr, 2021 09 23;21(1):418.
    PMID: 34556071 DOI: 10.1186/s12887-021-02899-3
    BACKGROUND: Childhood obesity has been associated with increased odds of adult obesity and co-morbidities in later life. Finding the key determinants may help in designing the most appropriate and effective interventions to prevent obesity. This study aimed to identify the determinants of obesity among school adolescents in a sub-urban state of Malaysia.

    METHODS: This cross-sectional study involved 1,404 school adolescents aged 12 years (46% boys and 54% girls). Socio-demographic, dietary and physical activity data were collected using questionnaires whilst body weight and height were measured and body mass index was classified based on WHO BMI-for-age Z-scores cut-off.

    RESULTS: A multivariable linear regression model showed that BMI z-score was positively associated with parents' BMI (P<0.001), birth weight (P=0.003), and serving size of milk and dairy products (P=0.036) whilst inversely associated with household size (P=0.022). Overall, 13.1% of the variances in BMI Z-scores were explained by parents' BMI, birth weight, servings of milk and dairy products and household size.

    CONCLUSION: This study found important determinants of body weight status among adolescents mainly associated with family and home environmental factor. This evidence could help to form the effective and tailored strategies at the earliest stage to prevent obesity in this population.

  6. Chang CY, Arasu K, Wong SY, Ong SH, Yang WY, Chong MHZ, et al.
    BMC Pediatr, 2021 09 03;21(1):382.
    PMID: 34479539 DOI: 10.1186/s12887-021-02842-6
    BACKGROUND: Modifiable lifestyle factors and body composition can affect the attainment of peak bone mass during childhood. This study performed a cross-sectional analysis of the determinants of bone health among pre-adolescent (N = 243) Malaysian children with habitually low calcium intakes and vitamin D status in Kuala Lumpur (PREBONE-Kids Study).

    METHODS: Body composition, bone mineral density (BMD), and bone mineral content (BMC) at the lumbar spine (LS) and total body (TB) were assessed using dual-energy X-ray absorptiometry (DXA). Calcium intake was assessed using 1-week diet history, MET (metabolic equivalent of task) score using cPAQ physical activity questionnaire, and serum 25(OH) vitamin D using LC-MS/MS.

    RESULTS: The mean calcium intake was 349 ± 180 mg/day and mean serum 25(OH)D level was 43.9 ± 14.5 nmol/L. In boys, lean mass (LM) was a significant predictor of LSBMC (β = 0.539, p 

  7. Chew CC, Chan HK, Chang CT, Hss AS, Hassali MA
    BMC Pediatr, 2021 05 03;21(1):216.
    PMID: 33941117 DOI: 10.1186/s12887-021-02691-3
    BACKGROUND: Caregivers' knowledge, practice and adherence in medication administration who care for children with chronic illness requiring long-term pharmacological treatments are factors associating with children medication safety at home. This study aimed to determine the medication-related knowledge, administration practice and adherence among caregivers of chronically ill children in Malaysia. This cross-sectional study was conducted at the paediatric outpatient clinic of a tertiary public hospital. Caregivers of chronically ill children, who engaged in medication administration at home for at least 3 months, were conveniently recruited. Their medication-related knowledge and administration practice were evaluated based on a checklist, while their adherence to medication administration was assessed using a validated 5-point scale. The associated factors were also explored.

    RESULTS: Of the 141 participants, most were mothers (90.8%) and had a full-time job (55.3%). Most of them had adequate medication-related knowledge (71.6%) and an appropriate administration practice (83.0%). The majority of them (83.0%) also rated themselves as adherent to medication administration. The participants with a child above 5 years of age (91.2%) were found to have a better practice than those with younger children (75.3%) in medication administration (p = 0.012). However, those with a child taking two (adjusted OR: 12.53) or three (adjusted OR: 8.29) medications, getting their refills from private health institutions apart from this hospital (adjusted OR = 7.06) and having multiple illnesses (adjusted OR = 21.25) were more likely to be not adherent to medication administration.

    CONCLUSION: Caregivers of chronically ill children in Malaysia generally have sufficient knowledge and an appropriate practice of medication administration at home. Yet, strategies to improve the adherence to medication administration, particularly in those who care for children with complicated health conditions, are warranted.

  8. Ma Z, Idris S, Zhang Y, Zewen L, Wali A, Ji Y, et al.
    BMC Pediatr, 2021 02 24;21(1):95.
    PMID: 33627089 DOI: 10.1186/s12887-021-02550-1
    BACKGROUND: The emerging of psychological problems triggered by COVID-19 particularly in children have been extensively highlighted and emphasized, but original research in this respect is still lagging behind. Therefore, we designed this study to evaluate the impact of COVID-19 pandemic on mental health and the effectiveness and attitudes towards online education among Chinese children aged 7-15 years.

    METHODS: A detailed questionnaire, comprising of 62 questions was designed and parents or caretakers of 7 to 15 years old children were invited to participate via WeChat, a multi-purpose messaging, social media and mobile payment app, which is widely used by the Chinese population. A total of 668 parents across different regions of China were included.

    RESULTS: During COVID-19 pandemic, 20.7 and 7.2% children report experiencing post-traumatic stress disorder (PTSD) and depressive symptoms due to the COVID-19 pandemic. PTSD and SMFQ-P scores are significantly higher in middle school and boarding school students compared to primary and day school students. Multiple logistic regression analysis revealed that school system and province of origin are factors significantly associated with developing PSTD symptoms. 44.3% respondents feel online education is effective in gaining knowledge and improving practical and communications skills. 78.0% believe the online education system is efficient. Overall 79.8% respondents are satisfied and children can adapt to this new education system. During the COVID-19 pandemic, we found 1 in five children have PTSD and 1 in 14 children have depressive symptoms.

    CONCLUSION: In summary, COVID-19 epidemic has caused PTSD and depression symptoms among Chinese children aged 7 to 15 years. In general, a large proportion of respondents are satisfied with online education, but still a substantial proportion of students are not comfortable with this new form of learning. Authorities should optimize online education systems and implement effective interventions to cope with the psychological effects of COVID-19 on children, as it is affecting the global population and remains uncertain when it will end.

  9. Wong MNL, Tang IP, Chor YK, Lau KS, John AR, Hii KC, et al.
    BMC Pediatr, 2020 09 24;20(1):448.
    PMID: 32972390 DOI: 10.1186/s12887-020-02348-7
    BACKGROUND: Haemoptysis is an uncommon presenting symptom in children and is usually caused by acute lower respiratory tract infection or foreign body aspiration. We report a rare case of right unilateral pulmonary vein atresia (PVA) as the underlying aetiology of recurrent haemoptysis in a child.

    CASE PRESENTATION: A 4 years old girl presented with history of recurrent haemoptysis. Bronchoscopic evaluation excluded a foreign body aspiration but revealed right bronchial mucosal hyperaemia and varices. Diagnosis of right unilateral PVA was suspected on transthoracic echocardiography which demonstrated hypoplastic right pulmonary artery and non-visualization of right pulmonary veins. Final diagnosis was confirmed on cardiac CT angiography. A conservative treatment approach was opted with consideration for pneumonectomy in future when she is older.

    CONCLUSION: Rarer causes should be considered when investigating for recurrent haemoptysis in children. Bronchoscopy and cardiac imaging are useful tools to establish the diagnosis of unilateral PVA in our case.

  10. Sharif Ishak SIZ, Chin YS, Mohd Taib MN, Chan YM, Mohd Shariff Z
    BMC Pediatr, 2020 03 14;20(1):122.
    PMID: 32171276 DOI: 10.1186/s12887-020-02023-x
    BACKGROUND: The 'Eat Right, Be Positive About Your Body and Live Actively' (EPaL) intervention programme was developed to prevent overweight and disordered eating in Malaysian adolescents. This study aimed to evaluate the effectiveness of the EPaL programme on knowledge, attitudes and practices on healthy lifestyle and body composition (body mass index z-score [zBMI], waist circumference [WC] and body fat percentage [BF%]) among adolescents.

    METHODS: All measures were taken at three time points: before intervention (Pre), after intervention (Post I) and 3 months after intervention (Post II). The intervention group (IG) participated in the EPaL programme for 16 weeks, whereas the comparison group (CG) received no intervention. Seventy-six adolescents (IG: n = 34; CG: n = 42) aged 13-14 years were included in the final analysis. Repeated measures analysis of covariance (ANCOVA) was used to assess the impact of the EPaL intervention programme on the measures between groups (IG and CG) at Post I and Post II.

    RESULTS: The IG reported significantly higher knowledge scores at both Post I (adjusted mean difference = 3.34; 95% confidence interval [CI] = 0.99, 5.69; p = 0.006) and Post II (adjusted mean difference = 2.82; 95% CI = 0.86, 4.78; p = 0.005) compared with the CG. No significant differences between the IG and CG were found at either Post I or Post II in attitudes, practices, zBMI, WC and BF%. The proportion of participants who were overweight or obese was consistent from Pre to Post II in the IG (35.3%) and increased from 26.2% at Pre to 28.5% at Post II in the CG, but the difference was not statistically significant. The proportion of participants who had abdominal obesity in the IG decreased from 17.6% at Pre to 14.7% at Post II and increased from 16.7% at Pre to 21.4% at Post II in the CG, but the differences were not statistically significant.

    CONCLUSION: Despite no significant reduction of body composition, this programme shows the positive effect on the adolescents' knowledge regarding healthy lifestyle. This study contributes to the evidence on the effectiveness of school-based health interventions in Malaysian adolescents.

    TRIAL REGISTRATION: UMIN Clinical Trial Registration UMIN000024349. Registered 11 October 2016.

  11. Bolisetty S, Osborn D, Schindler T, Sinn J, Deshpande G, Wong CS, et al.
    BMC Pediatr, 2020 02 08;20(1):59.
    PMID: 32035481 DOI: 10.1186/s12887-020-1958-9
    BACKGROUND: The first consensus standardised neonatal parenteral nutrition formulations were implemented in many neonatal units in Australia in 2012. The current update involving 49 units from Australia, New Zealand, Singapore, Malaysia and India was conducted between September 2015 and December 2017 with the aim to review and update the 2012 formulations and guidelines.

    METHODS: A systematic review of available evidence for each parenteral nutrient was undertaken and new standardised formulations and guidelines were developed.

    RESULTS: Five existing preterm Amino acid-Dextrose formulations have been modified and two new concentrated Amino acid-Dextrose formulations added to optimise amino acid and nutrient intake according to gestation. Organic phosphate has replaced inorganic phosphate allowing for an increase in calcium and phosphate content, and acetate reduced. Lipid emulsions are unchanged, with both SMOFlipid (Fresenius Kabi, Australia) and ClinOleic (Baxter Healthcare, Australia) preparations included. The physicochemical compatibility and stability of all formulations have been tested and confirmed. Guidelines to standardise the parenteral nutrition clinical practice across facilities have also been developed.

    CONCLUSIONS: The 2017 PN formulations and guidelines developed by the 2017 Neonatal Parenteral Nutrition Consensus Group offer concise and practical instructions to clinicians on how to implement current and up-to-date evidence based PN to the NICU population.

  12. Alias H, Morthy SK, Zakaria SZS, Muda Z, Tamil AM
    BMC Pediatr, 2020 02 05;20(1):53.
    PMID: 32020861 DOI: 10.1186/s12887-020-1951-3
    BACKGROUND: Advances in the treatment of childhood brain tumors have significantly improved survival rates. With improved survival rates, long-term treatment-related toxicities have become important, and the resulting complications can affect patients' emotion and behavior. This study aimed to 1) evaluate behavioral outcomes among survivors of childhood brain tumors, 2) compare behavioral outcomes among survivors of childhood brain tumors with survivors of childhood leukemia and healthy children, and 3) determine any demographic, disease, and/or treatment-related factors that could affect the behavioral outcomes of survivors of childhood brain tumors.

    METHODS: A comparative cross-sectional study was conducted over a period of 1 year (June 1st, 2018-May 31st, 2019) in two tertiary referral centers in Kuala Lumpur, Malaysia. Thirty-eight survivors of childhood brain tumors aged 6 to 18 years old who had been off-treatment for at least 1 year and were in remission, 38 age- and gender-matched survivors of childhood leukemia who had been off-treatment for at least 1 year and were in remission, and 38 age- and gender-matched unrelated healthy children were recruited. The Child Behaviour Checklist (CBCL) parent report and Youth Self-Report (YSR) questionnaires were used to assess behavioral outcomes.

    RESULTS: Survivors of childhood brain tumors showed statistically significantly worse behavioral outcomes than healthy children for social problems and attention problems (p 

  13. Yusuf A, Mamun ASMA, Kamruzzaman M, Saw A, Abo El-Fetoh NM, Lestrel PE, et al.
    BMC Pediatr, 2019 Jul 26;19(1):258.
    PMID: 31349810 DOI: 10.1186/s12887-019-1607-3
    Following publication of the original article [1], the authors reported that name that appeared in published online version is incorrect.
  14. Muthuvelu S, Lim KS, Huang LY, Chin ST, Mohan A
    BMC Pediatr, 2019 07 24;19(1):251.
    PMID: 31340782 DOI: 10.1186/s12887-019-1635-z
    BACKGROUND: Reactivation of the Bacillus Calmette-Guérin (BCG), manifesting as erythema, induration, ulceration or crust formation at a previous BCG inoculation site, is a common and highly specific feature of Kawasaki disease (KD). We report the unusual finding of BCG reactivation in an infant with laboratory-confirmed measles.

    CASE PRESENTATION: A previously healthy 7-month old infant presented initially with fever, cough and coryza, and subsequently developed Koplik's spots followed by a typical morbilliform skin rash. There was significant contact history with a household relative who had recently been diagnosed with measles. On examination, a 2.5 cm area of erythema and induration was seen at the previous BCG inoculation site, in addition to the widespread maculopapular rash. No other clinical features of KD were present. Measles virus was isolated from the throat swab and measles antibodies (IgM) were present in the serum. The patient recovered completely with oral vitamin A and supportive therapy, and had normal echocardiography examination on follow up.

    CONCLUSIONS: This case report highlights the rare finding of BCG reactivation in a child with confirmed measles infection, and suggests that this clinical manifestation may occasionally occur in children with infections or conditions other than KD.

  15. Yusuf A, Mamun ASMA, Kamruzzaman M, Saw A, Abo El-Fetoh NM, Lestrel PE, et al.
    BMC Pediatr, 2019 06 29;19(1):213.
    PMID: 31255172 DOI: 10.1186/s12887-019-1581-9
    BACKGROUND: Anemia is not only a major public health problem among children in developing countries, it is also an important predictor for their future growth and development. The objective of this study was to identify possible factors associated with anemia among pre-school children in Bangladesh after removing a cluster effect of the population, and to determine the prevalence of this condition.

    METHODS: Data for this study was extracted from the 2011 Bangladesh Demographic and Health Survey (BDHS-2011). In this survey, data was collected using a two-stage stratified cluster sampling approach. The chi-square test and a two-level logistic regression model were used for further analysis.

    RESULTS: Data from 2231 children aged 6-59 months were included for analysis. The prevalence of child anemia was noted to be 52.10%. Among these anemic children, 48.40% where from urban environment and 53.90% were from rural areas. The prevalence of mild, moderate and severe anemia among children was 57.10, 41.40 and 1.50% respectively. The two-level logistic regression model revealed that the following factors were associated with childhood anemia: children of anemic mothers (p 

  16. Tan HS, Balasubramaniam IS, Hss AS, Yeong ML, Chew CC, Singh RP, et al.
    BMC Pediatr, 2019 05 29;19(1):174.
    PMID: 31142302 DOI: 10.1186/s12887-019-1550-3
    BACKGROUND: Prolonged neonatal jaundice (PNNJ) is often caused by breast milk jaundice, but it could also point to other serious conditions (biliary atresia, congenital hypothyroidism). When babies with PNNJ receive a routine set of laboratory investigations to detect serious but uncommon conditions, there is always a tendency to over-investigate a large number of well, breastfed babies. A local unpublished survey in Perak state of Malaysia revealed that the diagnostic criteria and initial management of PNNJ were not standardized. This study aims to evaluate and improve the current management of PNNJ in the administrative region of Perak.

    METHODS: A 3-phase quasi-experimental community study was conducted from April 2012 to June 2013. Phase l was a cross-sectional study to review the current practice of PNNJ management. Phase ll was an interventional phase involving the implementation of a new protocol. Phase lll was a 6 months post-interventional audit. A registry of PNNJ was implemented to record the incidence rate. A self-reporting surveillance system was put in place to receive any reports of biliary atresia, urinary tract infection, or congenital hypothyroidism cases.

    RESULTS: In Phase I, 12 hospitals responded, and 199 case notes were reviewed. In Phase II, a new protocol was developed and implemented in all government health facilities in Perak. In Phase III, the 6-month post-intervention audit showed that there were significant improvements when comparing mean scores of pre- and post-intervention: history taking scores (p 

  17. Mohd Nor NS, Al-Khateeb AM, Chua YA, Mohd Kasim NA, Mohd Nawawi H
    BMC Pediatr, 2019 04 11;19(1):106.
    PMID: 30975109 DOI: 10.1186/s12887-019-1474-y
    BACKGROUND: Familial hypercholesterolaemia (FH) is the most common inherited metabolic disease with an autosomal dominant mode of inheritance. It is characterised by raised serum levels of total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-c), leading to premature coronary artery disease. Children with FH are subjected to early and enhanced atherosclerosis, leading to greater risk of coronary events, including premature coronary artery disease. To the best of our knowledge, this is the first report of a pair of monochorionic diamniotic identical twins with a diagnosis of heterozygous FH, resulting from mutations in both LDLR and ABCG8 genes.

    CASE PRESENTATION: This is a rare case of a pair of 8-year-old monochorionic diamniotic identical twin, who on family cascade screening were diagnosed as definite FH, according to the Dutch Lipid Clinic Criteria (DLCC) with a score of 10. There were no lipid stigmata noted. Baseline lipid profiles revealed severe hypercholesterolaemia, (TC = 10.5 mmol/L, 10.6 mmol/L; LDL-c = 8.8 mmol/L, 8.6 mmol/L respectively). Their father is the index case who initially presented with premature CAD, and subsequently diagnosed as FH. Family cascade screening identified clinical FH in other family members including their paternal grandfather who also had premature CAD, and another elder brother, aged 10 years. Genetic analysis by targeted next-generation sequencing using MiSeq platform (Illumina) was performed to detect mutations in LDLR, APOB100, PCSK9, ABCG5, ABCG8, APOE and LDLRAP1 genes. Results revealed that the twin, their elder brother, father and grandfather are heterozygous for a missense mutation (c.530C > T) in LDLR that was previously reported as a pathogenic mutation. In addition, the twin has heterozygous ABCG8 gene mutation (c.55G > C). Their eldest brother aged 12 years and their mother both had normal lipid profiles with absence of LDLR gene mutation.

    CONCLUSION: A rare case of Asian monochorionic diamniotic identical twin, with clinically diagnosed and molecularly confirmed heterozygous FH, due to LDLR and ABCG8 gene mutations have been reported. Childhood FH may not present with the classical physical manifestations including the pathognomonic lipid stigmata as in adults. Therefore, childhood FH can be diagnosed early using a combination of clinical criteria and molecular analyses.

  18. Saleh Faidah H, Haseeb A, Yousuf Lamfon M, Mohammad Almatrafi M, Abdullah Almasoudi I, Cheema E, et al.
    BMC Pediatr, 2019 02 04;19(1):46.
    PMID: 30717737 DOI: 10.1186/s12887-019-1391-0
    BACKGROUND: Excessive and inappropriate antimicrobial use in the community is one risk factor that can result in the spread of antimicrobial resistance. Upper respiratory tract infections are most frequently reported among children and mainly of viral origin and do not require antibiotics. We have conducted Knowledge, Attitude and Perception (KAP) survey of parents to explore the parent's knowledge, attitude & perception of Saudi parents.

    METHODS: A knowledge attitude perception questioner was adopted from a previous study conducted in Greece by Panagakou et al. Raosoft online sample size calculator calculated the sample size by adding the total estimated Makkah population of 5,979,719 with a response rate of 30%, 5% margin of error and 99% confidence interval. Based on the described criteria five hundred & fifty-eight was the required sample size of the study. Incomplete questioners were excluded from the statistical analysis. SPSS version 21 was used to analyse data and to produce descriptive statistics.

    RESULTS: Most of the mothers (95%) responded among parents. 67% had no health insurance to cover medications costs. Most of them (74%) were related to medium income level. Seventy per cent of the parents believed physicians as a source of information for judicious antibiotics use. Interestingly, only 8% were agreed that most of the upper respiratory tract infections are caused by viral reasons. Majority of Saudi parents (53%) expect pediatricians to prescribe antimicrobials for their children for symptoms like a cough, nose discharge, sore throat and fever. Moreover, most the parents had the poor knowledge to differentiate commonly used OTC medications for URTI and antibiotics like Augmentin (Co-amoxiclav), Ceclor (cefaclor) and Erythrocin (Erythromycin). While comparing males and female's knowledge level, few males have identified Amoxil (Amoxicillin). Similarly, parents of age 20-30 years have good knowledge about the antibiotics.

    CONCLUSIONS: Majority of Saudi parents believe in pediatricians and use antibiotics on physician's advice. Most of them expect antibiotics from their physicians as a primary treatment for upper respiratory tract infections. There is need for more educational activities to parents by the pharmacists to prevent antibiotics overuse among children.

  19. Woon FC, Chin YS, Ismail IH, Chan YM, Batterham M, Abdul Latiff AH, et al.
    BMC Pediatr, 2018 Jul 18;18(1):233.
    PMID: 30021541 DOI: 10.1186/s12887-018-1219-3
    BACKGROUND: Nutrition and environmental factors are essential for the education of the neonatal immune system. Epidemiological evidence has shown that malnutrition and allergic diseases that occur during early childhood share similar protective and risk factors. This paper describes the protocol of the Mother and Infant Cohort Study (MICOS), which aims to determine the contribution of early nutrition to the development of malnutrition and allergic diseases in infants' first year of life.

    METHODS: MICOS is a prospective cohort study conducted at selected government health clinics in two states, namely Selangor and Wilayah Persekutuan Kuala Lumpur, Malaysia. Women in their third trimester of pregnancy are recruited into the study and their infants will be followed-up at 3, 6, and 12 months of age. Information on prenatal factors including socio-demographic characteristics, obstetric history, pre-pregnancy body mass index, gestational weight gain, smoking, family history of allergic diseases, maternal dietary intake and sunlight exposure during pregnancy are obtained through face-to-face interviews. Postnatal factors including dietary intake, sun exposure, and anthropometric measurements of the mothers, as well as feeding practices, dietary intake, anthropometric measurements, and development of allergic diseases of the infants are assessed at each follow-up. Blood samples are collected from the mothers in the third trimester to determine 25-hydroxyvitamin D levels as well as from the infants at age 12 months to determine atopic sensitisation.

    DISCUSSION: The concept of developmental origins of health and disease (DOHaD) which emphasises on the role of early life environments in shaping future health and disease susceptibility in adulthood has gained a huge interest in recent years. The DOHaD paradigm has influenced many fields of research including malnutrition and allergic diseases. While findings from the developed countries remain controversial, such studies are scarce in developing countries including Malaysia. The present study will determine the cause and effect relationship between early nutrition and the development of malnutrition and allergic diseases in infants' first year of life.

  20. Li X, Ting TH, Sheng H, Liang CL, Shao Y, Jiang M, et al.
    BMC Pediatr, 2018 03 06;18(1):101.
    PMID: 29510678 DOI: 10.1186/s12887-018-1060-8
    BACKGROUND: There is scarcity of information on the clinical features and genetics of glucokinase-maturity-onset diabetes of the young (GCK-MODY) in China. The aim of the study was to investigate the clinical and molecular characteristics of Chinese children with GCK-MODY.

    METHODS: Eleven children with asymptomatic hyperglycemia and clinically suspected GCK-MODY were identified from the database of children with diabetes in the biggest children's hospital in South China. Clinical data were obtained from medical records. Blood was collected from the patients and their parents for glucokinase (GCK) gene analysis. Parents without diabetes were tested for fasting glucose and HbA1c. Clinical information and blood for GCK gene analysis were obtained from grandparents with diabetes. GCK gene mutational analysis was performed by polymerase chain reaction and direct sequencing. Patients without a GCK gene mutation were screened by targeted next-generation sequencing (NGS) technology for other MODY genes.

    RESULTS: Nine children tested positive for GCK gene mutations while two were negative. The nine GCK-MODY patients were from unrelated families, aged 1 month to 9 years and 1 month at first detection of hyperglycaemia. Fasting glucose was elevated (6.1-8.5 mmol/L), HbA1c 5.2-6.7% (33.3-49.7 mmol/mol), both remained stable on follow-up over 9 months to 5 years. Five detected mutations had been previously reported: p.Val182Met, c.679 + 1G > A, p.Gly295Ser, p.Arg191Gln and p.Met41Thr. Four mutations were novel: c.483 + 2 T > A, p.Ser151del, p.Met57GlyfsX29 and p.Val374_Ala377del. No mutations were identified in the other two patients, who were also tested by NGS.

    CONCLUSIONS: GCK gene mutations are detected in Chinese children and their family members with typical clinical features of GCK-MODY. Four novel mutations are detected.
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