Displaying publications 241 - 260 of 2796 in total

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  1. Daud A, Nawi AM, Aizuddin AN, Yahya MF
    Glob Heart, 2023;18(1):46.
    PMID: 37649652 DOI: 10.5334/gh.1255
    BACKGROUND: Bystander cardiopulmonary resuscitation (CPR) and using an automated external defibrillator (AED) can improve out-of-hospital cardiac arrest survival. However, bystander CPR and AED rates remained consistently low. The goal of this systematic review was to assess factors influencing community willingness to perform CPR and use an AED for out-of-hospital cardiac arrest survival (OHCA) victims, as well as its barriers.

    METHODS: The review processes (PROSPERO: CRD42021257851) were conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) review protocol; formulation of review questions; systematic search strategy based on identification, screening, and eligibility using established databases including Scopus, Web of Science, and Medline Complete via EBSCOhost; quality appraisal; and data extraction and analysis. There is identification of full-text journal articles that were published between 2016 and 2021 and written in English.

    RESULTS: Of the final 13 articles, there are six identified factors associated with willingness to perform CPR and use an AED, including socio-demographics, training, attitudes, perceived norms, self-efficacy, and legal obligation. Younger age, men, higher level of education, employed, married, having trained in CPR and AED in the previous 5 years, having received CPR education on four or more occasions, having a positive attitude and perception toward CPR and AED, having confidence to perform CPR and to apply an AED, and legal liability protection under emergency medical service law were reasons why one would be more likely to indicate a willingness to perform CPR and use an AED. The most reported barriers were fear of litigation and injuring a victim.

    CONCLUSIONS: There is a need to empower all the contributing factors and reduce the barrier by emphasizing the importance of CPR and AEDs. The role played by all stakeholders should be strengthened to ensure the success of intervention programs, and indirectly, that can reduce morbidity and mortality among the community from OHCA.

    Matched MeSH terms: Child, Preschool
  2. How KN, Chang HW, Lai OM
    J Cosmet Dermatol, 2023 Oct;22(10):2746-2754.
    PMID: 37143441 DOI: 10.1111/jocd.15793
    BACKGROUND: Little is known about antioxidant efficacy of topical vitamin E on atopic dermatitis (AD) due to lack of controlled clinical studies.

    AIM: The study evaluates the effectiveness and safety of a topical moisturizer containing tocotrienol-rich composition over 12 weeks on patients aged between 1 month and 12 years with mild to moderate AD.

    METHODS: We conducted a 12 weeks, prospective, open-label clinical study on the effect of tocotrienol as an adjunct to conventional treatment. This study was approved by the Ethics Committee for Research Involving Human Subject. JKEUPM-2019-274 (NMMR-19-1588-49234).

    RESULTS: Thirty AD patients with a mean age of 2.77 ± 3.05 were enrolled in the study. At week-12, significant reduction of investigator global assessment (63.4%), Patient-Oriented Scoring Atopic Dermatitis Index (PO-SCORAD) (65%), and SCORAD (52.3%) was noted (p 

    Matched MeSH terms: Child, Preschool
  3. Albelbeisi A, Shariff ZM, Mun CY, Rahman HA, Abed Y
    Nutr J, 2020 12 05;19(1):133.
    PMID: 33278899 DOI: 10.1186/s12937-020-00652-7
    BACKGROUND: Infants and young children 6-24 months of age are the most nutritionally vulnerable groups, as their needs for vitamins and minerals are high relative to the amount of food they consume. This study determines the effect of Micronutrient Powder Supplementation (MNP) on growth and hemoglobin of infants in Gaza Strip, Palestine.

    METHOD: This was a two-arm parallel-group randomized controlled trial conducted in two health care clinics of the United Nations Relief and Work Agency (UNRWA) at the Middle Area governorate of Gaza Strip, Palestine. A total of 200 healthy infants aged 6-month-old were recruited and randomized to receive 3 sachets/week of MNP for 12 months alongside with the National Micronutrient Supplement (NMS) (n = 100) or NMS alone (n = 100). Weight, length, blood hemoglobin, and dietary intakes were measured at 6, 9, 12, 15, 18, and 21 (3 months after the end of intervention) months of age. Analysis was by intention to treat.

    RESULTS: The experimental group had a higher concentration of hemoglobin at 12 and 15 months than did the control group, and a significant difference (p 

    Matched MeSH terms: Child, Preschool
  4. Sreeramareddy CT, Harsha Kumar HN, Sathian B
    PLoS One, 2013;8(11):e79818.
    PMID: 24224010 DOI: 10.1371/journal.pone.0079818
    BACKGROUND: Inequalities in progress towards achievement of Millennium Development Goal four (MDG-4) reflect unequal access to child health services.

    OBJECTIVE: To examine the time trends, socio-economic and regional inequalities of under-five mortality rate (U5MR) in Nepal.

    METHODS: We analyzed the data from complete birth histories of four Nepal Demographic and Health Surveys (NDHS) done in the years 1996, 2001, 2006 and 2011. For each livebirth, we computed survival period from birth until either fifth birthday or the survey date. Using direct methods i.e. by constructing life tables, we calculated yearly U5MRs from 1991 to 2010. Projections were made for the years 2011 to 2015. For each NDHS, U5MRs were calculated according to child's sex, mother's education, household wealth index, rural/urban residence, development regions and ecological zones. Inequalities were calculated as rate difference, rate ratio, population attributable risk and hazard ratio.

    RESULTS: Yearly U5MR (per 1000 live births) had decreased from 157.3 (95% CIs 178.0-138.9) in 1991 to 43.2 (95% CIs 59.1-31.5) in 2010 i.e. 114.1 reduction in absolute risk. Projected U5MR for the year 2015 was 54.33. U5MRs had decreased in absolute terms in all sub groups but relative inequalities had reduced for gender and rural/urban residence only. Wide inequalities existed by wealth and education and increased between 1996 and 2011. For lowest wealth quintile (as compared to highest quintile) hazard ratio (HR) increased from 1.37 (95% CIs 1.27, 1.49) to 2.54 ( 95% CIs 2.25, 2.86) and for mothers having no education (as compared to higher education) HR increased from 2.55 (95% CIs 1.95, 3.33) to 3.75 (95% CIs 3.17, 4.44). Changes in regional inequities were marginal and irregular.

    CONCLUSIONS: Nepal is most likely to achieve MDG-4 but eductional and wealth inequalities may widen further. National health policies should address to reduce inequalities in U5MR through 'inclusive policies'.

    Matched MeSH terms: Child, Preschool
  5. Mohd Shariff Z, Lin KG, Sariman S, Lee HS, Siew CY, Mohd Yusof BN, et al.
    Nutr Res Pract, 2015 Jun;9(3):278-87.
    PMID: 26060540 DOI: 10.4162/nrp.2015.9.3.278
    Diet plays an important role in growth and development of children. However, dietary intakes of children living in either rural or urban areas can be influenced by household income. This cross-sectional study examined energy, nutrient and food group intakes of 749 urban children (1-10 years old) by household income status.
    Matched MeSH terms: Child, Preschool
  6. Jahir T, Pitchik HO, Rahman M, Sultana J, Shoab AKM, Nurul Huda TM, et al.
    Environ Res, 2021 Aug;199:111292.
    PMID: 33971132 DOI: 10.1016/j.envres.2021.111292
    Lead exposure is harmful at any time in life, but pre-natal and early childhood exposures are particularly detrimental to cognitive development. In Bangladesh, multiple household-level lead exposures pose risks, including turmeric adulterated with lead chromate and food storage in lead-soldered cans. We developed and evaluated an intervention to reduce lead exposure among children and their caregivers in rural Bangladesh. We conducted formative research to inform theory-based behavioral recommendations. Lead exposure was one of several topics covered in the multi-component intervention focused on early child development. Community health workers (CHWs) delivered the lead component of the intervention during group sessions with pregnant women and mother-child dyads (<15 months old) in a cluster-randomized trial. We administered household surveys at baseline (control n = 301; intervention n = 320) and 9 months later at endline (control n = 279; intervention n = 239) and calculated adjusted risk and mean differences for primary outcomes. We conducted two qualitative assessments, one after 3 months and a second after 9 months, to examine the feasibility and benefits of the intervention. At endline, the prevalence of lead awareness was 52 percentage points higher in the intervention arm compared to the control (adjusted risk difference: 0.52 [95% CI 0.46 to 0.61]). Safe turmeric consumption and food storage practices were more common in the intervention versus control arm at endline, with adjusted risk differences of 0.22 [0.10 to 0.32] and 0.13 [0.00 to 0.19], respectively. Semi-structured interviews conducted with a subset of participants after the intervention revealed that the perceived benefit of reducing lead exposure was high because of the long-term negative impacts that lead can have on child cognitive development. The study demonstrates that a group-based CHW-led intervention can effectively raise awareness about and motivate lead exposure prevention behaviors in rural Bangladesh. Future efforts should combine similar awareness-raising efforts with longer-term regulatory and structural changes to systematically and sustainably reduce lead exposure.
    Matched MeSH terms: Child, Preschool
  7. Jamil J, Tay CY, Bong CP, Yeap TB
    BMJ Case Rep, 2021 Nov 29;14(11).
    PMID: 34844969 DOI: 10.1136/bcr-2021-246359
    Primary amyloidosis is a rare systemic disorder often associated with multiple organ dysfunction. The most common form, light chain amyloidosis, has an estimated age-adjusted incidence of 5.1-12.8 cases per million person-years. Spine involvement is extremely uncommon. We present the case of a young Asian man with newly diagnosed amyloidosis involving the lumbar spine among multiple organs with a pathological vertebral fracture that required urgent spine surgery. We believe this is the first reported case to discuss the perianaesthetic challenges in the management of lumbar spine amyloidosis.
    Matched MeSH terms: Child, Preschool
  8. Tanusha N, Leelavathi M, Azimah NM
    Med J Malaysia, 2023 Nov;78(6):763-767.
    PMID: 38031218
    INTRODUCTION: Digital devices are an integral part of children's lives, and its use is associated with both risks and benefits. The aim of this study was to determine parent's perception of digital device use among their preschool children.

    MATERIALS AND METHODS: A cross-sectional study was conducted among parents of 145 children in the year 2020. Participants were selected using multistage randomisation technique from 10 of the 75 registered government kindergartens in Kota Setar District, Kedah. Data were collected using a self-administered questionnaire. Analysis was done using descriptive statistics and the association between parent's demographic characteristics and the overall perception of digital media use by their preschool children was tested using Chi-square test.

    RESULTS: A total of 150 questionnaires were distributed, and 145 were returned (96.7% response rate) out of which 139 were complete. We found that parent's overall perception of their preschool children using digital devices was mixed, where about one-third of them perceived that digital device use was a risk, one-third perceived it as beneficial while onethird were unsure. The common perception of risk was that digital devices impaired children's physical (71.9-90.6%) and intellectual domains (71.9-86.3%) especially causing damage to eyesight (90.6%), causing addiction (86.3%) and exposed to radiation (81.3%). The perceived benefits of using digital device were mainly in the social domain, promoting technology awareness (64.8%), easily accessible and portable (63.3%) and entertaining (64.0%). They also perceived that digital devices promoted creative and interactive learning (62.6%). Parent's overall perception of digital media use was associated with their employment status (p=0.028).

    CONCLUSION: Parent's overall perception regarding digital device use among their preschool children was mixed. They perceived that digital devices commonly cause risk to the physical and intellectual aspects of their children while there are some benefits to the social aspects. There is an association between parent's overall perception and employment status.

    Matched MeSH terms: Child, Preschool
  9. Ooi KM, Saniasiaya J, Kulasegarah J, Ong DL
    BMJ Case Rep, 2024 Jan 12;17(1).
    PMID: 38216171 DOI: 10.1136/bcr-2023-256699
    Bronchogenic cyst is a congenital abnormality arising from the tracheobronchial system. Localisation of such cysts in the head and neck region is rare. We report a girl in her early childhood with a painless enlarging right lateral neck mass diagnosed with a branchial cleft cyst based on clinical and radiological MRI findings. An incidental finding of a cervical bronchogenic cyst was made on the final histopathological specimen. Although rare, bronchogenic cysts should be considered as differential diagnoses for paediatric patients' lateral and midline cervical masses.
    Matched MeSH terms: Child, Preschool
  10. Lee VW, Kam KQ, Mohamed AR, Musa H, Anandakrishnan P, Shen Q, et al.
    Neurol Neuroimmunol Neuroinflamm, 2024 Jan;11(1):e200186.
    PMID: 38086061 DOI: 10.1212/NXI.0000000000200186
    BACKGROUND AND OBJECTIVES: We characterize clinical and neuroimaging features of SARS-CoV-2-related acute necrotizing encephalopathy (ANE).

    METHODS: Systematic review of English language publications in PubMed and reference lists between January 1, 2020, and June 30, 2023, in accordance with PRISMA guidelines. Patients with SARS-CoV-2 infection who fulfilled diagnostic criteria for sporadic and genetic ANE were included.

    RESULTS: From 899 articles, 20 cases (17 single case reports and 3 additional cases) were curated for review (50% female; 8 were children). Associated COVID-19 illnesses were febrile upper respiratory tract infections in children while adults had pneumonia (45.6%) and myocarditis (8.2%). Children had early neurologic deterioration (median day 2 in children vs day 4 in adults), seizures (5 (62.5%) children vs 3 of 9 (33.3%) adults), and motor abnormalities (6 of 7 (85.7%) children vs 3 of 7 (42.9%) adults). Eight of 12 (66.7%) adults and 4 (50.0%) children had high-risk ANE scores. Five (62.5%) children and 12 (66.7%) adults had brain lesions bilaterally and symmetrically in the putamina, external capsules, insula cortex, or medial temporal lobes, in addition to typical thalamic lesions of ANE. Hypotension was only seen in adults (30%). Hematologic derangements were common: lymphopenia (66.7%), coagulopathy (60.0%), or elevated D-dimers (100%), C-reactive protein (91.7%), and ferritin (62.5%). A pathogenic heterozygous c/.1754 C>T variant in RANBP2 was present in 2 children: one known to have this before SARS-CoV-2 infection, and a patient tested because the SARS-CoV-2 infection was the second encephalopathic illness. Three other children with no prior encephalopathy or family history of encephalopathy were negative for this variant. Fifteen (75%) received immunotherapy (with IV methylprednisolone, immunoglobulins, tocilizumab, or plasma exchange): 6 (40.0%) with monotherapy and 9 (60.0%) had combination therapy. Deaths were in 8 of 17 with data (47.1%): a 2-month-old male infant and 7 adults (87.5%) of median age 56 years (33-70 years), 4 of whom did not receive immunotherapy.

    DISCUSSION: Children and adults with SARS-CoV-2 ANE have similar clinical features and neuroimaging characteristics. Mortality is high, predominantly in patients not receiving immunotherapy and at the extremes of age.

    Matched MeSH terms: Child, Preschool
  11. West LN, Zakharova I, Huysentruyt K, Chong SY, Aw MM, Darma A, et al.
    Nutrients, 2022 Sep 30;14(19).
    PMID: 36235719 DOI: 10.3390/nu14194067
    Background: The prevalence of functional constipation (FC) among children varies widely. A survey among healthcare professionals (HCPs) was conducted to better understand the HCP-reported prevalence and (nutritional) management of FC in children 12−36 months old. Methods: An anonymous e-survey using SurveyMonkey was disseminated via emails or WhatsApp among HCPs in eight countries/regions. Results: Data from 2199 respondents were analyzed. The majority of the respondents (65.9%) were from Russia, followed by other countries (Indonesia (11.0%), Malaysia (6.0%)), Mexico, KSA (5.1% (5.7%), Turkey (3.0%), Hong Kong (2.2%), Singapore (1.1%)). In total, 80% of the respondents (n = 1759) were pediatricians. The prevalence of FC in toddlers was reported at less than 5% by 43% of the respondents. Overall, 40% of the respondents reported using ROME IV criteria in > 70% of the cases to diagnose FC, while 11% never uses Rome IV. History of painful defecation and defecations < 2 x/week are the two most important criteria for diagnosing FC. In total, 33% of the respondents reported changing the standard formula to a specific nutritional solution, accompanied by parental reassurance. Conclusion: The most reported prevalence of FC in toddlers in this survey was less than five percent. ROME IV criteria are frequently used for establishing the diagnosis. Nutritional management is preferred over pharmacological treatment in managing FC.
    Matched MeSH terms: Child, Preschool
  12. Aziz H, Ab Mutalib NS, Alias H, Jamal R
    Malays J Pathol, 2024 Aug;46(2):259-278.
    PMID: 39207003
    INTRODUCTION: Leukaemia is the most common cancer in children, however, there is still a big gap in knowledge about the genomic alterations in childhood acute myeloid leukaemia (AML) compared to adult AML. Relapsed AML remains as a leading cause of cancer deaths among children. This study aims to understand the molecular mechanisms of relapsed AML by elucidating the mutational landscape before and during relapse.

    MATERIALS AND METHODS: Whole genome sequencing was performed on matched samples collected at diagnosis, remission and relapse from three patients of de novo childhood AML. Sanger sequencing was performed for validation in 47 patients' samples, followed by functional analysis.

    RESULTS: Overall, we identified 312 somatic mutations including synonymous single nucleotide variants (SNVs), missense SNVs, deletions and insertion frameshifts, stopgains and splice sites. After prioritisation, only 46 variants were present at diagnosis (13-17 mutations per patient) and 49 variants at relapse (12-20 mutations per patient). Out of 81 variants, there were 35 new variants detected at relapse but not present at diagnosis. Six potential driver mutations (KIT, CDC73, HNF1A, RBM10, ZMYM4 and ETV6) were identified in predicting relapse for the 3 patients, with recurrent mutations of the ETV6 gene in 2 patients. Functional analysis of the ETV6 mutation showed that ETV6 lost its tumour suppressive function when both mutant ETV6 p.P25fs and ETV6 p.N75fs were tested in vitro.

    CONCLUSION: This study has uncovered the mutational landscape in three local childhood AML patients and contributes to a better understanding of the molecular mechanisms of relapsed AML.

    Matched MeSH terms: Child, Preschool
  13. Lee JX, Tan YJ, Ismail NAS
    Int J Mol Sci, 2024 Nov 15;25(22).
    PMID: 39596340 DOI: 10.3390/ijms252212275
    NPHS1 and NPHS2 are kidney gene components that encode for nephrin and podocin, respectively. They play a role in the progression of congenital (CNS) and steroid-resistant (SRNS) nephrotic syndrome. Hence, this study aimed to determine the prevalence and renal outcomes of NPHS mutations among pediatric patients with CNS and SRNS. We also aimed to identify potential predictors of NPHS mutations in this patient cohort. Overall, this study included 33 studies involving 2123 patients screened for NPHS1, whereas 2889 patients from 40 studies were screened for NPHS2 mutations. The patients' mean age was 4.9 ± 1 years (ranging from birth to 18 years), and 56% of patients were male (n = 1281). Using the random-effects model, the pooled proportion of NPHS1 mutations among pediatric patients with CNS and SRNS was 0.15 (95% CI 0.09; 0.24, p < 0.001, I2 = 92.0%). The pooled proportion of NPHS2 mutations was slightly lower, at 0.11 (95% CI 0.08; 0.14, p < 0.001, I2 = 73.8%). Among the 18 studies that reported ESRF, the pooled proportion was 0.47 (95% CI 0.34; 0.61, p < 0.001, I2 = 75.4%). Our study showed that the NPHS1 (β = 1.16, p = 0.35) and NPHS2 (β = 5.49, p = 0.08) mutations did not predict ESRF in CNS and SRNS pediatric patients. Nevertheless, patients from the European continent who had the NPHS2 mutation had a significantly higher risk of developing ESRF (p < 0.05, β = 1.3, OR = 7.97, 95% CI 0.30; 2.30) compared to those who had the NPHS1 mutation. We recommend NPHS mutation screening for earlier diagnosis and to avoid unnecessary steroid treatments. More data are needed to better understand the impact of NPHS mutations among pediatric patients with CNS and SRNS.
    Matched MeSH terms: Child, Preschool
  14. Mohamad MS, Mahadir Naidu B, Virtanen SM, Lehtinen-Jacks S, Abdul Maulud KN
    Asia Pac J Public Health, 2023 Jan;35(1):34-41.
    PMID: 36321506 DOI: 10.1177/10105395221135407
    Evidence on the associations between built environment and overweight in children outside developed countries is scarce. We examined associations between access to local food and physical activity environments and overweight in 5- to 17-year-old Malaysians in two states with differing overweight levels. Information on children was measured in the National Health and Morbidity Survey 2015 and combined with Geographic Information System-derived data on local food and physical activity environments. Access to the built environment was measured by presence and distance from child's residence. Complete data were available for 880 children. Access to local food outlets and parks was higher and associated with higher occurrence of overweight in children living in the state with higher overweight prevalence. When adjusted for sociodemographic factors, higher presence of and shorter distance to convenience stores and parks were associated with overweight. Both built environment and children's sociodemographic backgrounds should be considered when planning interventions to curb the overweight epidemic in Malaysia.
    Matched MeSH terms: Child, Preschool
  15. Chan KH, Mohammed Haspani MS, Tan YC, Kassim F
    Malays J Med Sci, 2011 Jul;18(3):82-6.
    PMID: 22135607 MyJurnal
    Primary central nervous system atypical rhabdoid/teratoid tumour (ATRT) is a rare and highly malignant tumour that tends to occur in infancy and early childhood. The majority of tumours (approximately two-third) arise in the posterior fossa. The optimal treatment for ATRT remains unclear. Options of treatment include surgery, radiotherapy, and chemotherapy. Each of their role is still not clearly defined until now. The prognosis of the disease is generally unfavourable. This is a case report of ATRT in an atypical site in a 9-year-old girl.
    Matched MeSH terms: Child, Preschool
  16. Seman K, Yaacob H, Hamid AM, Ismail AR, Yusoff A
    Malays J Med Sci, 2008 Apr;15(2):33-8.
    PMID: 22589623
    Involvement of oral health educators among non-health professionals in oral health promotion is important in the prevention of oral diseases. This study was carried out to compare the level of oral health knowledge among pre-school teachers before and after oral health seminar. Pre-test data was collected by distributing questionnaire to pre-school teachers in Pasir Mas, who attended the seminar on "Oral Health" (n=33) and they were required to fill anonymously before the seminar started. The questions consisted of information on general background, perceived oral health status, oral health knowledge and the environment where they work. After two weeks, post-test data was collected using the same structured questionnaire and identification code was used to match the pre and post data. SPSS 11.5 was use for statistical analysis. Two out of 33 eligible preschool teachers were considered non-respondents due to absenteeism during the post-test data collection. The response rate was 94.0% (n = 31). The study shows a significant improvement in oral health knowledge among pre-school teachers in Pasir Mas, after seminar (p < 0.001) as compared to controls. Thus, we can conclude that the oral health programme (seminar) appeared effective at influencing oral health educator's knowledge towards oral health.
    Matched MeSH terms: Child, Preschool
  17. Akinshipo AW, Sivaramakrishnan G, Enwuchola J, Effiom O, Adeoye J, Ramanathan A, et al.
    Head Neck Pathol, 2025 Jan 07;19(1):2.
    PMID: 39776309 DOI: 10.1007/s12105-024-01739-x
    OBJECTIVE: To analyze the frequency, clinical, histopathological, and radiological characteristics of ameloblastoma in Nigeria over the course of two decades.

    STUDY DESIGN: A retrospective analysis was conducted on 371 cases at a Nigerian university hospital between 2000 and 2023. Age, gender, site, histological variants, tumor size and duration were analyzed. Statistical analyses included the Shapiro-Wilk test, Mann-Whitney U test, Chi-square test, and Spearman rank correlation analysis.

    RESULTS: The median patient age was 30 years (mean age 32.2), with a male-to-female ratio of 1.12:1. 54.7% of cases occurred in young adults (age range 20-39 years). Among the lesions, 11.3% were in the maxilla and 88.7% in the mandible. Patients with mandibular lesions had a median age of 29 years, while those with maxillary lesions had a statistically significantly higher median age of 37.5 years p-value = 0.001. Median tumor size was 36 cm2 for the mandible and 24 cm2 for the maxilla (significant p-value of 0.002). There was no correlation between tumor size, age, or gender. However, there was a significant correlation between tumor size and the duration of the condition.

    CONCLUSION: The study concludes that ameloblastoma is more frequent among younger individuals in Nigeria and often presents with larger tumor sizes, emphasizing the need for early detection and intervention.

    Matched MeSH terms: Child, Preschool
  18. Rajasegaran S, Ahmad NA, Tan SK, Lechmiannandan A, Tan YW, Sanmugam A, et al.
    Pediatr Surg Int, 2024 Jul 24;40(1):209.
    PMID: 39046543 DOI: 10.1007/s00383-024-05792-z
    PURPOSE: Down syndrome (DS) is a common abnormality associated with anorectal malformation (ARM) and Hirschsprung's disease (HD). However, quality of life (QOL) in ARM and HD patients with DS is under-researched. This study compares parent-reported QOL and bowel function in ARM and HD patients with DS to those without.

    METHODS: Between December 2020 to February 2023, parents of ARM and HD patients with and without DS aged 3-17 years who had undergone surgery > 12 months prior at four tertiary referral centers were recruited. We used the Pediatric Quality of Life Inventory™ (PedsQL™) Generic Core Scales, General Well-Being (GWB) Scale and Family Impact (FI) Module questionnaires, and the Rintala bowel function score (BFS).

    RESULTS: There were 101 ARM, 9 (8.9%) of whom had DS; and 87 HD, of whom 6 (6.9%) had DS. Parent-reported Core scores in ARM and HD with DS were comparable to those without DS. However, ARM and HD with DS had worse scores in the FI Module and bowel function than those without DS.

    CONCLUSION: Although parent-reported QOL in ARM and HD with DS is similar to those without DS, family impact and BFS are worse. Our findings are limited by small sample size in proportion of DS patients.

    Matched MeSH terms: Child, Preschool
  19. Hussain S, Mohd Fezal NS, Flanagan S
    J ASEAN Fed Endocr Soc, 2024;39(2):108-111.
    PMID: 39620188 DOI: 10.15605/jafes.039.02.03
    A four-year-old female who was born term via spontaneous vaginal delivery (SVD) with a birth weight of 3.4 kg had an onset of persistent hypoglycaemia at the 6th hour of life. She was diagnosed with congenital hyperinsulinism based on high glucose load, negative ketone and a good response to glucagon. Genetic workup revealed the presence of ATP Binding Cassette Subfamily C Member 8 (ABCC8 genes) mutation which indicated a focal form of congenital hyperinsulinism. She was resistant to the standard dose of oral diazoxide but responded to subcutaneous somatostatin. At the age of 3 years and 6 months, multiple daily injections of somatostatin were replaced with a long-acting monthly somatostatin analogue. With the present treatment, she had better glycaemic control, normal growth and was able to stop tube feeding.
    Matched MeSH terms: Child, Preschool
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