Suryono Yudha Patria
Department Of Pediatrics, Faculty Of Medicine, Public Health, And Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Central Java

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Journal : Paediatrica Indonesiana

Detection of the jaundice-related G71R mutation in the UGT1A1 gene by denaturing high performance liquid chromatography (DHPLC) Retno Sutomo; Sunartini Hapsara; Suryono Yudha Patria; Hajime Nakamura
Paediatrica Indonesiana Vol 49 No 1 (2009): January 2009
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (172.816 KB) | DOI: 10.14238/pi49.1.2009.1-6

Abstract

Background  The  G71R mutation in the UGT1A1 gene has  beenassociated with neonatal jaundice  and  other  cases  of  hereditary,unconjugated hyperbilirubinemia in several Asian populations.Currently,  DNA  sequencing  is  the  only  method  available  toidentify the mutation, which can be time- and  labor-intensive,particularly for such projects  as  population-based genetic studies.A relatively new method, denaturing high performance liquidchromatography (DHPLC),  is  increasingly used to  detect  variousmutations.Objective  The  aim  of  the present study was to investigate theability of DHPLC to  detect  the G71R mutation, in comparisonwith the gold standard of sequencing analysis.Methods Seventy-two infants were enrolled. Following genomicDNA  extraction, exon 1 of the UGT1A1 gene was amplified  bypolymerase chain reaction (PCR). Afterwards, the G71R mutationwas simultaneously,  and  blindly, determined in all subjects  byDHPLC and sequence analysis.  The  performance  of  the DHPLCanalysis, compared  to  the sequence analysis, was assessed in termsof  sensitivity  and  specificity.Results DHPLC detected the G71 R mutation in  31  individuals.Of  these,  26  were heterozygous and 5 were homozygous for themutation. This method did not find the mutation in  41  otherindividuals. Sequence analysis produced identical results for allindividuals.Conclusion DHPLC analysis  is  capable  of  detecting the G71Rmutation  in  the  UGT1A1  with  a degree  of  sensitivity  andspecificity  (100%  each)  that  is  comparable to sequencing analysis.
Predictive factors of ketoacidosis in type 1 diabetes mellitus Listianingrum Listianingrum; Suryono Yudha Patria; Tunjung Wibowo
Paediatrica Indonesiana Vol 59 No 4 (2019): July 2019
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (241.118 KB) | DOI: 10.14238/pi59.4.2019.169-74

Abstract

Background Diabetic ketoacidosis (DKA) is an acute complication in type 1 diabetes mellitus (DM) and a significant cause of morbidity and mortality in developing countries. Diabetic ketoacidosis can be prevented by good management of the disease. Risk factors from previous studies that increase the DKA incidence were peripubertal age, female gender, low socio-economic status, low parental education status, DKA at the first diagnosis of type 1 DM, infection, psychological problems, poor metabolic control, and non-compliance with insulin treatment. Objective To determine whether sex, age, socio-economic status, parental education level, DKA at the initial diagnosis of type 1 DM, infection, psychological problems, poor metabolic control, and failing to take insulin as needed were predictive of DKA in type 1 DM patients. Methods We conducted a retrospective cohort study using medical records from type 1 DM patients aged 0-20 years, at the Department of Child Health, Dr. Sardjito Hospital, Yogyakarta, from January 2011 to May 2017. We assessed for the incidence and predictors of DKA. Logistic regression analysis was done to determine which factors increased DKA incidence. Results A total of 57 type 1 DM patients were recruited, with DKA incidence of 37 (65%). Five (8.8%) DKA patients died. Multivariate analysis revealed that infection (OR 5.23; 95%CI 1.47 to 19.68; P=0.014) and DKA at the first diagnosis of type 1 DM (OR 5.37; 95%CI 1.40 to 19.52; P=0.011) were significant risk factors for DKA. Conclusion Infection and DKA at the first diagnosis of type 1 DM are significant predictors of increased DKA incidence.
The outcomes of childhood acute lymphoblastic leukemia with hyperleukocytosis Din Alfina; Pudjo Hagung Widjajanto; Suryono Yudha Patria
Paediatrica Indonesiana Vol 58 No 4 (2018): July 2018
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (487.109 KB) | DOI: 10.14238/pi58.4.2018.186-91

Abstract

Background Hyperleukocytosis in childhood acute lymphoblastic leukemia (ALL) is an emergency in oncology. This condition showed high mortality and relapse rates, as well as low survival rate. The outcomes of this group of patients are not yet well studied. Objective To evaluate the characteristics and outcomes of childhood acute lymphoblastic leukemia (ALL) with hyperleukocytosis. Methods This was a retrospective cohort study. The patients were children less than 18 year of age who were diagnosed as ALL in Dr. Sardjito Hospital, Yogyakarta, from January 1st 2010 to November, 30th 2016. Event-free survival rate and overall survival rate were estimated for group of patients with the white blood cell (WBC) groups 50-200x109/L and >200x109/L using the Kaplan-Meier method. Results There were 705 children diagnosed as ALL during the study period, 129 (18%) with hyperleukocytosis and 111 of them met the inclusion criteria, consisted of 76 children in a group of WBC 50-200 x 109/L and 35 children in a group of WBC >200 x 109/L. Presentation at diagnosis: median age were 7 years (range 1 month-18 years), male was 1.5 higher than female, 92% of cases with lymphoid infiltration, 5% with CNS involvement, 40% had bleeding tendency, and 10% had clinical tumor lysis syndrome (TLS). Median WBC was 122 (range 53.4-876) x 109/L; mean Hb was 8 (SD 3) g/dL; median platelet count was 30 (range 1-221) x 109/L. Immunophenotyping was done in 23 patients, 5/23 (8%) was T cell. The patients in lower WBC group showed lower death (26% vs. 34%, P=0,389), higher two-year event-free survival (EFS) 68% vs. 45%, P=0.003, and overall survival (77% vs. 68%, P= 0.16), compared to patients in higher WBC group. Univariate and multivariate Cox regression analyses revealed that none of the variables was a significant prognostic factor for 2 years EFS or overall survival. Conclusion The group of children with ALL and hyperleukocytosis with lower WBC at diagnoses showed better outcomes than the higher WBC.
Linear growth and systemic glucocorticoid therapy in children with systemic lupus erythematosus Dikahayu Alifia Anugrah; Suryono Yudha Patria; Cahya Dewi Satria
Paediatrica Indonesiana Vol 62 No 1 (2022): January 2022
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi62.1.2022.37-43

Abstract

Background The use of long-term oral glucocorticoid therapy, specifically in the treatment of systemic lupus erythematosus (SLE), has increased in the past two decades. Chronic glucocorticoid use may lead to a linear growth disturbances. Objective To determine the association between linear growth and systemic glucocorticoid therapy in pediatric SLE patients. Methods This retrospective cohort study used medical record data of pediatric SLE patients. All subjects received systemic glucocorticoids. The linear growth parameters recorded in this study were height-for-age z-score (HAZ) and height velocity at 0, 6, and 12 months of treatment. We recorded potential risk factors of linear growth disturbance, such as pubertal status, sex, SLE severity, pulse methylprednisolone use, daily glucocorticoid dose, and nutritional status. Results Of 42 patients with SLE, 83.3% were female, with a mean age of 13 years at diagnosis. Eighteen subjects (42.9%) experienced abnormal height velocity. There was a significant reduction in HAZ between 0, 6, and 12 months of treatment (P=0.016). Between 0 and 6 months of treatment, there was a mean HAZ decrease of 0.11 (P=0.015). There was a trend towards a risk for decreased HAZ at 6 and 12 months of treatment with pulse methylprednisolone (RR 1.25 and 1.27, respectively), as well as for abnormal height velocity (RR 1.73), but they did not reach statistical significance. Conclusion There is a reduction in linear growth in the first 12 months of systemic glucocorticoid therapy in children with SLE. Administration of systemic glucocorticoid significantly reduced HAZ in the first six months of therapy.
Undetected Takayasu arteritis presenting as severe hypertension in children: a report of two cases Wirawan, Muhammad Taufik; Murni, Indah Kartika; Patria, Suryono Yudha; Arafuri, Nadya; Noormanto, Noormanto; Nugroho, Sasmito
Paediatrica Indonesiana Vol. 64 No. 5 (2024): September 2024
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi64.5.2024.454-8

Abstract

Takayasu arteritis (TA) is a rare chronic granulomatous vasculitis mainly affecting the aorta and its main branches. Clinical presentations of TA are non-specific, especially in the initial phase, which likely contributes to delayed diagnosis besides the rarity of the disorder. Childhood-onset of TA is associated with significant morbidity and mortality. This case report aimed to present two rare cases of acute symptomatic severe hypertension in children due to TA.