Paediatrica Indonesiana
https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana
<p>Paediatrica Indonesiana is a medical journal devoted to the health, in a broad sense, affecting fetuses, infants, children, and adolescents, belonged to the Indonesian Pediatric Society. Its publications are directed to pediatricians and other medical practitioners or researchers at all levels of health practice throughout the world.</p> <p>Paediatrica Indonesiana is accredited by Ministry of Research and Higher Education of the Republic of Indonesia no. 36a/E/KPT/2016 (2016-2021), and is indexed by Scopus, Clarivate Analytics (Emerging Source Citation Index/ESCI), Directory of Open Access Journals (DOAJ), Cross Ref, Google Scholar, PKP Index, and ICI Journals Master List.</p>en-US<p>Authors who publish with this journal agree to the following terms:</p> <p>Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.</p> <p>Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.</p>[email protected] (Anna Dewiyana)[email protected] (Fransisca Hanum)Fri, 20 Dec 2024 00:00:00 +0700OJS 3.1.1.2http://blogs.law.harvard.edu/tech/rss60Identifying competency gaps in intra- and post-learning of a pediatric residency program: a qualitative study
https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3795
<p><strong><em>Background</em></strong> The purpose of the pediatric residency program is for aspiring pediatricians to develop the core competencies needed to care for the children’s health. Upon graduation, pediatricians encounter competency challenges related to diverse populations, cultures, and medical facilities across the nation. Enhancing the efficacy and efficiency of medical education in pediatric residency programs requires identifying and addressing gaps in the post-learning outcomes and intra-learning processes.</p> <p><strong><em>Objective </em></strong>To investigate competency gaps between the core competencies taught in the pediatric residency training program and the actual necessitates in the professional experience of pediatricians.</p> <p><strong><em>Methods</em></strong> This qualitative study was conducted by a focus group discussion using semi-constructed questions. Twelve pediatricians who graduated from the Pediatric Residency Program of Universitas Sebelas Maret and had professional work experience of 3 to 18 months were included. Focus group discussions were held online and moderated by the research team using guided questions. Two FGD sessions of 5 and 7 subjects each were conducted. The discussions were recorded and transcribed for analysis in a stepwise manner involving data grouping, information labeling, and data coding to identify the main themes.</p> <p><strong><em>Results</em></strong> All subjects were working in type B, C, and D hospitals in six different provinces at the time of the study. The competency gaps in intra-residency learning domain covered two topics: curriculum content (core competencies, medicolegal education, effective communication, vaccination, and longitudinal case management) and training (case variations, patient complexity, and affiliated hospital rotations). The smallest competency gaps was core competency; and there was a need for improvement in other topics, particularly in effective communication and vaccination. The competency gaps in the post-learning domain included 4 topics: daily practices (demographic differences, popular topics, and effective communication), health facilities (the gap between individual competency and availability of health facilities), professional relationships with senior/other center colleagues, and strategic plans (continuing medical education). The cultural social background of the population and limited health resources were the main issues in the post-learning are-sxa that need be acknowledged. Effective communication was the theme that emerged and should be to be taught in both ares of learning and post-learning.</p> <p><strong><em>Conclusion</em></strong> Pediatric residency graduates should address some gaps in learning after completing the pediatric residency program. Effective communication was identified as a learning gap during and after training. Based on our findings, we recommend for the program to provide additional steps to prepare pediatric residents before their graduation.</p>David Anggara Putra, Pitra Sekarhandini, Annang Giri Moelyo
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https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3795Mon, 09 Dec 2024 09:52:03 +0700Improving stunting prevention program through community healthcare workers training and home-based growth monitoring: A quality improvement model
https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3740
<p><strong><em>Background</em></strong> Over 1.5 million community healthcare workers (CHWs) work in <em>pos pelayanan terpadu</em> (<em>posyandu</em>) in Indonesia. They are in charge of growth monitoring and counseling, as part of a community-based stunting prevention program. Recent literature suggests that the program requires quality improvements to maximize its potential.</p> <p><strong><em>Objective</em></strong> To understand the impacts of a quality improvement model comprising capacity building for CHWs and home-based growth monitoring using smart charts on <em>posyandu </em>performance, particularly related on its stunting prevention components.</p> <p><strong><em>Methods</em></strong> This cross-sectional study was conducted in two rural villages in Lombok, Indonesia in May 2023. We interviewed 130 CHWs and 317 mothers with children under-five with a pre-validated questionnaire on <em>posyandu</em> performance that was developed using an input-process-output framework. We evaluated the CHWs dan mothers performances in the height measurement and counseling process.</p> <p><strong><em>Results</em></strong> Both CHWs and mothers perceived performance improvements in the height measurement and counseling processes, with statistically significant differences between pre- and post-intervention performance scores for height measurement [mean differences of 0.38 points; 95%CI 0.188 to 0.566; P<0.000 (CHWs) and 0.276 points; 95%CI 0.469 to 0.846; P<0.000 (mothers)]; for counseling [mean differences of 0.285 points; 95%CI 0.149 to 0.42; P<0.001 (CHWs) and 0.142 points; 95%CI 0.098 to 0.186; P<0.000 (mothers)]. Performance improvements were also found across all <em>posyandu</em><em> c</em>omponents, including those related to stunting.</p> <p><strong><em>Conclusion</em></strong> Capacity building for CHWs and home-based growth monitoring using smart charts are beneficial in improving community-based stunting prevention programs.</p>Adriana Viola Miranda, Ryan Rachmad Nugraha, Trio Sirmareza, Maritta Rastuti, Rindang Asmara, Sri Puji Astuti, Safarah Risvie Nasytha, Zack Petersen
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https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3740Wed, 18 Dec 2024 09:37:35 +0700Bone turnover markers and bone mineral density in prepubertal obese children
https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3632
<p><strong><em>Background</em></strong> Growing evidence suggests that childhood obesity has an impact on bone metabolism. Its entails of bone resorption, destruction of mature mineralized bone by osteoclasts followed by ossification, bone formation by osteoblasts, to maintain the dynamic nature of bone. Serum C-telopeptide of collagen cross-links (CTX) is considered a bone resorption marker while serum procollagen type I N-propeptide (PINP) is considered abone formation marker. Previous studies have reported the abnormality of these bone turnover marker in obese children.</p> <p><strong><em>Objective</em></strong> To compare bone turnover markers and bone mineral density (BMD) in obese prepubertal children to those of <u>normoweight</u><u> children</u>.</p> <p><strong><em>Methods</em></strong> Bone metabolism was evaluated by measuring serum PINP as a bone formation marker and CTX level as a bone resorption marker by enzyme-linked immunosorbent assay. We used dual-energy X-ray absorptiometry (DEXA) scan to evaluate BMD in 60 prepubertal children with obesity and 30 healthy prepubertal normoweight children.</p> <p><strong><em>Results</em></strong> The CTX was significantly higher in the case group compared to the control group (<u>P=0.001).</u> The case group also had significantly lower mean BMD (P=0.001) and BMD Z-score (P=0.001). C-telopeptide of collagen cross-links in the case group had significant positive correlations with waist circumference (P=0.001), BMI (P=0.001), and BMI Z-score (P=0.001). Significant negative correlations were found between waist circumference, BMI, and BMI Z-score with procollagen type I N-terminal propeptide, BMD, and BMD Z-score.</p> <p><strong><em>Conclusion</em></strong> Obesity has a negative impact on bone health. Low BMD was associated with high CTX in prepubertal obese children.</p>Ola Taha, Amany Elhwary, Sarah M. Shoeib, Yosra Fouad Mohammed Rashad, Dina Ata
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https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3632Thu, 14 Nov 2024 09:05:31 +0700Tri-ponderal mass index vs. body mass index to determine obesity and central obesity in adolescents
https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3755
<p><strong><em>Background </em></strong>Tri-ponderal mass index (TMI) is as accurate as body mass index (BMI) in predicting body fat in children and adolescents. Despite TMI simplicity, there have been few studies comparing the sensitivity and specificity of TMI and BMI in determining obesity and central obesity in adolescents.</p> <p><strong><em>Objective</em></strong> To compare the sensitivity and specificity of TMI and BMI in determining general obesity and central obesity in adolescents.</p> <p><strong><em>Methods</em></strong> This cross-sectional study was conducted in Surakarta. Healthy school children aged 12 to 17 years underwent TMI, BMI, and waist circumference measurements in 2016, 2017, 2019. Tri-ponderal mass index was calculated as the weight divided by the height in metres cubed (kg/m<sup>3</sup>). General obesity was defined by the <em>International Obesity Task Force</em> (IOTF) classification of overweight-obese. The BMI-WHO overweight/obesity was defined as over the 85<sup>th</sup> percentile of the BMI SDS (WHO growth reference). Central obesity was defined as waist-to-height ratio (WtHR) ? 0.5. The sensitivity and specificity of TMI and BMI were calculated.</p> <p><strong><em>Results</em></strong> A total of 1,173 children and adolescents (837 girls, 336 boys) aged 12-17 years were recruited into this study. The overall prevalences of obesity by BMI-WHO, TMI, BMI-IOTF, and WtHR were 22.68%, 14.92%, 20.55%, and 32.74%, respectively. The sensitivity of BMI-WHO vs. TMI for general obesity was 100.00% vs. 77.71%, respectively (girls) and 100.00% vs. 59.52%, respectively (boys). The specificity was 98.24% vs. 99.56%, respectively (girls) and 98.84% vs. 100%, respectively (boys). The sensitivity of BMI-WHO vs. TMI for central obesity was 58.77% vs 48.82%, respectively (girls), and 47.40% vs 27.75%, respectively (boys). The specificity was 92.81% vs. 96.49%, respectively (girls), and 90.80% vs 98.77%, respectively (boys).</p> <p><strong><em>Conclusion</em></strong> Tri-ponderal mass index consistently showed higher specificity and lower sensitivity than BMI in assessing general and central obesity.</p>Annang Giri Moelyo, Hanum Ferdian
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https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3755Thu, 21 Nov 2024 11:20:42 +0700Cord blood iron status and vitamin D concentration in newborns of anemic and non-anemic mothers in Makassar, Indonesia
https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3714
<p><strong><em>Background</em></strong> Iron deficiency (ID) is a common micronutrient problem, especially in pregnant women in developing countries such as Indonesia. Moreover, vitamin D deficiency is also a major concern in worldwide public health. A correlation between anemia, ID, and vitamin D deficiency in children has been identified, but investigations in pregnant women and their newborn babies are still limited.</p> <p><strong><em>Objective </em></strong>To assess association between iron status and vitamin D levels in umbilical cord blood and maternal anemia.</p> <p><strong><em>Methods</em></strong> This cross-sectional study involved 109 pregnant women and their newborns. They were divided into two groups, with and without maternal anemia. Collected cord blood (2 mL) was placed in tubes with ethylenediaminetetraacetic acid (EDTA). Plasma ferritin and vitamin D (25-hydroxyvitamin D, 25(OH)D) levels were measured by enzyme-linked immunosorbent assay (ELISA).</p> <p><strong><em>Results</em></strong> Maternal anemia was found in 60 mothers (55% subjects). The mean cord blood hemoglobin levels for the anemic and non-anemic groups were 15.19 (SD 2.25) g/dL and 15.12 (SD 1.98) g/dL, respectively (P=0.87). Median cord blood ferritin levels were slightly lower in anemic [12.95 (range 0.42-17.69) µg/L] than in non-anemic mothers[13.45 (range 7.10-22.12) µg/L], but were not significantly different (P=0.555). Median cord blood 25(OH)D levels were lower in the anemic group [12.24 (range 8.53-32.99) ng/dL] than in the non-anemic group [14.26 (range 9.84-61.44) ng/dL], but the difference was not significant (P=0.964).</p> <p><strong><em>Conclusion </em></strong>Maternal anemia was not significantly associated with cord blood hemoglobin, ferritin, or 25(OH)D levels.</p>Nadirah Rasyid Ridha, Muhammad Nasrum Massi, Bahrul Fikri, Sri Hardiyanti Putri, Najdah Hidayah, Andi Fatimah Arsyad
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https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3714Thu, 14 Nov 2024 08:56:33 +0700Comparing clinical, laboratory, and epidemiological features of COVID-19 variants during different pandemic waves among children in Ukraine
https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3715
<p><strong><em>Background</em></strong> The SARS-CoV-2 virus, the causative agent of the coronavirus disease (COVID-19), mutated during its replication and spread among the population. These mutations led to new viral variants, which differed in their characteristics and manifestations, contributing to the wave-like progression of the COVID-19. The Centers for Disease Control and Prevention classified variants based on the public health risk include variants of interest such as ? and ?, variants of concern including ?, ?, ?, ?, ?, variants of high consequence, and variants being monitored.</p> <p><strong><em>Objective</em></strong> To conduct a comparative analysis of the demographic, clinical, epidemiological, radiological, and laboratory characteristics of hospitalized children with COVID-19 during different waves of the disease.</p> <p><strong><em>Methods </em></strong>A cohort study was conducted involved 337 children aged one month to 18 years who were hospitalized with laboratory-confirmed COVID-19 between 2020 and 2023 in Ukraine.</p> <p><strong><em>Results</em></strong> During wave 3 (W3), wave 5 (W5) and wave 6 (W6), children under 3 years of age were hospitalized more frequently. The severe course of disease predominantly occurred during W3 period, with 47.3% cases demonstrating severe symptoms such as respiratory failure, bilateral pneumonia, and significant changes in laboratory parameters, including white blood cell count, erythrocyte sedimentation rate, D-dimer, and procalcitonin. One fatal case was reported during W3. The duration of hospitalization was longest for children in the W3 group. A moderate course of the disease was significantly more prevalent among hospitalized children in the first wave (77.78%, P<0.05), characterized by interstitial changes in the lungs, elevated C-reactive protein, and platelet levels. Fever and intoxication syndrome were reported with similar frequency during all waves of COVID-19.</p> <p><strong><em>Conclusion</em></strong> Our study demonstrates the dynamic changes in manifestations and the progression of the disease across different variants of concern of SARS-CoV-2. The most severe cases of COVID-19 was observed during the third wave which predominated by the ? (Delta) strain.</p>Tetiana Harashchenko, Tetiana Umanets, Tetiana Kaminska, Lapshyn Volodymyr, Yurii Antypkin
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https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3715Mon, 09 Dec 2024 08:48:43 +0700Efficacy and safety of rituximab in children with steroid- and calcineurin inhibitor-dependent nephrotic syndrome: a systematic review of randomized controlled trials
https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3756
<p><strong><em>Background </em></strong>Efficacy of rituximab in the management of idiopathic nephrotic syndrome in children is well-established, however there is limited evidence of its efficacy in children with steroid- and calcineurin inhibitor-dependent nephrotic syndrome (CNI-SDNS).</p> <p><strong><em>Objective</em></strong> To investigate the efficacy and safety of rituximab in children with CNI-SDNS.</p> <p><strong><em>Methods</em></strong> We conducted a comprehensive search for relevant RCTs in PubMed, Scopus, Cochrane Central Register of Controlled Trials, and Google Scholar. Eligible RCTs were included, assessed for risk of bias using the Revised Cochrane risk-of-bias tool for randomized trials, and summarized narratively.</p> <p><strong><em>Results</em></strong> A total of five RCTs (299 children) were included in the review. Rituximab was effective in maintaining remission and preventing relapse in pediatric CNI-SDNS patients, in a manner potentially superior to conventional therapy. Furthermore, rituximab successfully resulted in a higher rate of steroid and CNI withdrawal, along with prolonged drug-free period. However, the benefits of rituximab in children with focal segmental glomerulosclerosis (FSGS) remains equivocal. The drug was generally well-tolerated, both in the short-term and long-term, with a low incidence of adverse events and infusion reactions, typically of mild and reversible nature.</p> <p><strong><em>Conclusion</em></strong> Rituximab appears to be effective and safe in treating children with CNI-SDNS, offering potential benefits in reducing dependence on steroids and CNIs. Larger trials comparing the effectiveness of rituximab specifically between children with minimal change disease (MCD) and FSGS are warranted to further validate and strengthen our findings.</p>Sharon Sharon, Nadhifah Nadhifah, Timotius Ivan Heriawan, Nadya Rahmatika, Nadia Eva Zahara, Athaya Febriantyo Purnomo, Gilbert Lazarus
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https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3756Thu, 14 Nov 2024 09:07:55 +0700Exclusive breastfeeding for 6 months is associated with reduced risk of febrile seizure
https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3695
<p><strong><em>Background</em></strong> Febrile seizure (FS) is the most common convulsion disorder without an intracranial abnormality in children aged 6 months to 5 years. Risk factors for FS vary from maternal illness during pregnancy to pediatric nutritional factors, such as micronutrient deficiency or history of exclusive breastfeeding (EBF). The WHO recommends breastfeeding for up to 6 months because breastmilk contains numerous protective factors that may influence immune system development.</p> <p><strong><em>Objective </em></strong>To analyze the relationship between FS and EBF and other potential risk factors in children aged 6-60 months.</p> <p><strong><em>Methods</em></strong> This paired case-control study used patient medical record data from Wangaya Hospital, Denpasar from 2019-2020. Subjects were included by a purposive sampling technique, matched by age group. Children aged 6 to 60 months with fever >38<sup>o</sup>C and seizures were allocated to the case group; those with fever but without seizures were allocated to the control group. Patients with intracranial disorders, born prematurely, or with incomplete medical record data were excluded. Data were analyzed using McNemar test, with P values <0.05 deemed to be statistically significant.</p> <p><strong><em>Results </em></strong>Of 92 participants, 46 children were allocated into each group. There were no significant differences of gender, delivery method, or birth weight between the case and control groups. Febrile seizure was significantly greater in subjects with a family history of all seizures, overweight nutritional status, and who were non-EBF. McNemar analysis showed that EBF children had significantly lower risk of FS compared to non-EBF children (OR 0.74; 95%CI 0.15 to 3.55; P=0.017). Additionally, positive family history of FS was also a significant factor (OR 4.33; 95% CI 0.25 to 76.04; P=0.021), but not with the overweight nutritional status.</p> <p><strong><em>Conclusion</em></strong> Exclusive breastfeeding are associated with reduced risk of FS in children aged 6 months to 5 years.</p>Jessica Gosal, I Wayan Bikin Suryawan, I Gde Doddy Kurnia Indrawan
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https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3695Mon, 04 Nov 2024 09:25:36 +0700Treatment duration and dosage of valproic acid and subclinical hypothyroidism incidence in pediatric epilepsy patients
https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3712
<p><strong><em>Background</em></strong> Epilepsy is a central nervous system disorder characterized by abnormal electrical activity in the brain.<sup>1</sup> Prolonged administration of valproic acid at therapeutic doses can disrupt thyroid function, leading to subclinical hypothyroidism. This condition is marked by elevated thyroid stimulating hormone (TSH) levels, with normal serum free T4 (FT4) levels.<sup>2</sup></p> <p><strong><em>Objective</em></strong> To investigate for possible associations between valproic acid therapy duration and dosage with the incidence of subclinical hypothyroidism in pediatric epilepsy patients.</p> <p><strong><em>Methods</em></strong> This analytical, cross-sectional study included children aged 4 months to 18 years treated at the Pediatric Clinic of RSUD Dr. Zainoel Abidin, Banda Aceh, from September to November 2023. Subjects diagnosed with epilepsy and treated with valproic acid for at least 3 months were included in this study and underwent FT4 and TSH examinations.</p> <p><strong><em>Results</em></strong> Forty-four children met the study criteria. Subclinical hypothyroidism occurred in 5 (11.4%) subjects during valproic acid therapy. Chi-square analysis revealed no significant association between therapy duration ?1 year (OR 1.286; 95%CI 0.193 to 8.568; P=1.00) or therapy dose ?20-40 mg/kg/day (OR 3.429; 95%CI 0.351 to 33.518; P=0.37) with subclinical hypothyroidism incidence.</p> <p><strong><em>Conclusion</em></strong> Neither the duration nor the dosage of valproic acid therapy were significantly associated with the incidence of subclinical hypothyroidism in children with epilepsy.</p>Infra Yunita Carolina, Anidar Anidar, Rusdi Andid, Sulaiman Yusuf, Dora Darussalam, Nora Sovira
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https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3712Mon, 04 Nov 2024 09:31:23 +0700Primary hypertriglyceridemia in children with familial chylomicronemia syndrome
https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3063
<p>Hypertriglyceridemia can be caused by primary (genetic) or secondary etiology. One of the primary causes is hyperlipoproteinemia type I or known as familial chylomicronemia syndrome. Familial chylomicronemia syndrome is a rare autosomal recessive disease that occurs in 1-2 per 1,000,000 people, with specific characteristic signs, namely severe increment of fasting plasma triglyceride up to 100 times the normal value (about 1500-15,000 mg/dl) caused by lipoprotein lipase (LPL) mutation.</p>Dewi Jumantan, Titis Widowati, Irma Sri Hidayati, Endy P. Prawirohartono
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https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3063Mon, 02 Dec 2024 10:47:37 +0700Virtual learning due to covid-19 pandemic and body weight changes in children aged 6-12 years
https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3683
<p><strong><em>Background</em></strong> The COVID-19 pandemic has led to school closures and virtual learning implementation. The situation has affected children's lifestyles and created an obesogenic environment.</p> <p><strong><em>Objective </em></strong>To evaluate the impact of virtual learning during the pandemic on body weight changes in children.</p> <p><strong><em>Methods</em></strong> This cross-sectional study was conducted on 6-12 years age children who experienced virtual school learning in Jakarta, Indonesia. Parents or guardians were asked to complete an online questionnaire about lifestyle changes and children's anthropometric data both before and during the virtual learning period. Changes in the weight-for-age Z-score (WAZ) and BMI Z-score (BMIZ) were analyzed using the Wilcoxon signed-rank test.</p> <p><strong><em>Results</em></strong> A total of 206 children were assessed. There was a significant relation between virtual learning due to the COVID-19 pandemic and WAZ and BMIZ changes among children aged 6-12 years. Approximately 64% of the children experienced WAZ decrement (P value = 0.000), and 77.1% experienced BMIZ decrement (P value = 0.000).</p> <p><strong><em>Conclusion</em></strong> This study do not align with existing studies' indicating that the pandemic lead to weight gain in children. Instead, the results shows that virtual learning period causes both WAZ and BMIZ to decrease.</p>Nadhira Haliza Aulia, Andintia Aisyah Santoso, Mutiara Ramadhanty, Bintang Wirawan, Frida Soesanti
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https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3683Thu, 05 Dec 2024 09:02:53 +0700Successful management of a 7-year-old-female with juvenile dermatomyositis at a tertiary hospital in low-income country
https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3121
<p>Juvenile dermatomyositis (JDM) is a rare chronic autoimmune disease belonging to idiopathic inflammatory myopathies. Pathological skin lesions and proximal weakness primarily characterize this entity, but clinical symptoms can be heterogeneous. Children are more likely to have long-term complications such as lipodystrophy, calcinosis, and vasculopathy. Calcinosis is one of the characteristic sequelae of JDM, despite recent advances in the treatment of JDM, about one-third of patients still develop dystrophic calcinosis. In low-income countries, the availability of medicines is very limited. In our case, a 7-year-old female diagnosed with JDM presented with calcinosis. Aggressive and adequate treatment with steroids, methotrexate, hydroxychloroquine, and aluminium hydroxide can treat the complications. It is challenging to establish an early diagnosis, treatment, prevention of long-term complications, and improved prognosis of JDM, which then will improve the patient’s quality of life, especially in low income countries with limited drug availability.</p>Desy Wulandari, Azwin Mengindra Putera Lubis, Zahrah Hikmah, Anang Endaryanto
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https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3121Mon, 21 Oct 2024 12:38:12 +0700Kniest dysplasia in girl aged 4 years: a case report
https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3241
<p>Kniest dysplasia is a rare chondrodysplasia characterized by distinct musculoskeletal and craniofacial abnormalities. Additional features like hearing loss and some ocular abnormalities can also be present. We report a case of Kniest dysplasia from eastern India with a rare mutation confirmed by genetic testing. A 4-year-old girl presented with skeletal deformities with normal intelligence. On examination, she had dysmorphism, short stature, barrel-shaped chest, scoliosis, short limbs with enlarged joints, and dental problems. The skeletal survey showed platyspondyly, epiphyseal enlargement, and a hypoplastic femoral head with cloud-like calcification. Clinical suspicion of Kniest dysplasia was kept based on characteristic skeletal abnormalities and radiological findings. The diagnosis was confirmed by genetic analysis, which revealed a mutation in the COL2A1 gene (c.905C>T) on chromosome 12 exon 14.</p>Ipsita Sahoo, Nitish Jena, Mrutunjay Dash, Swarup Bisoi
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https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/3241Wed, 06 Nov 2024 15:51:42 +0700