Taralan Tambunan
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Phenotype and genotype characteristics of Indonesian 21-hydroxylase deficient patients Atiek Widya Oswari; Bambang Tridjaja; Iswari Setianingsih; Taralan Tambunan; Aman B. Pulungan; Jose R. L. Batubara
Paediatrica Indonesiana Vol 47 No 5 (2007): September 2007
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (1077.537 KB) | DOI: 10.14238/pi47.5.2007.189-95

Abstract

Background Congenital adrenal hyperplasia (CAH) is the mostcommon cause of ambiguous genitalia in children and 90-95%cases show 21-hydroxylase deficiency. More than 100 mutationshave been described and of these, four mutations have beenfrequently reported in Asia. Those mutations are deletion/largegene conversion (LGC), intron2 splice mutation (I2 splice), pointmutations at codon 172 (I172N) and codon 356 (R356W).Genotyping is very valuable since close correlation observedbetween genotype and phenotype.Objective To identify phenotype and genotype characteristics ofCAH due to 21-hydroxylase deficiency (CAH-21OH) andcorrelation between them.Methods From June to November 2006 we analyzed 37 confirmedCAH-21OH patients treated at the Department of Child Health,Cipto Mangunkusumo Hospital during the period of 1990-2006.Polymerase chain reaction (PCR) followed by restriction fragmentlength polymorphism (RFLP) analysis or amplification-createdrestriction site (ACRS) were performed. We first identified deletion/LGC and I172N mutation that had been mostly reported in saltwasting (SW) and simple virilizing (SV) form patients respectively.Results There were 37 patients, consisted of 6 males and 31females with the ratio 1:5.2. Of those, 25, 10, 2 patients wereSW, SV and non-classic (NC) form, respectively. PCR-RFLP orACRS was performed to detect two mutations in 32 patients (64alleles). Deletion/LGC was found in 6 alleles while I172Nmutations in two. All deletion alleles showed SW phenotype butI172 mutated alleles showed SW and SV phenotype.Conclusion There is a consistent close association betweengenotype and phenotype in our CAH-21OH patients.
The influence of stressor on blood pressure in school children Sudung O Pardede; Partini P Trihono; Irene Yuniar; Taralan Tambunan
Paediatrica Indonesiana Vol 43 No 2 (2003): March 2003
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (237.648 KB) | DOI: 10.14238/pi43.2.2003.35-7

Abstract

Background Physical and psychological stress such as child anxi-ety, can increase blood pressure.Objective To evaluate the role of vein puncture as a stressor caus-ing alteration of blood pressure in school children.Methods This study was a descriptive, pre and post test study asa part of a screening study on primary school children at Cibubursubdistrict in East Jakarta. Blood pressure was measured beforeand after a vein puncture procedure in 449 children. Nine childrenwere excluded because of incomplete data.Results The increase of systolic blood pressure was found in 121(27.5%) subjects, decrease in 42 (9.5%), and no change in 227(63%). Diastolic blood pressure increased in 123 (28.0%) subjects,decreased in 38 (8.6%), and did not change in 279 (63.4%). Theincrease of both systolic and diastolic blood pressure was found in61 (13.8%), increased systolic with no change of diastolic in 58(13.2%), and increased systolic with decreased diastolic in 2 (0.5%)children. Decreased systolic with increased diastolic was found in2 (0.5%) subjects, decreased systolic with no change of diastolicin 26 (5.9%), and decrease of both systolic and diastolic in 14 (3.2%)children. No changes in both systolic and diastolic blood pressurewere found in 195 (44.3%); no change in systolic with decreaseddiastolic blood pressure was found in 22 (5.0%) children.Conclusion In most of the school children, vein puncture proce-dure did not cause alteration on blood pressure
Familial hypophosphatemic rickets: report of a case Edi S Tehuteru; Taralan Tambunan
Paediatrica Indonesiana Vol 43 No 2 (2003): March 2003
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (187.562 KB) | DOI: 10.14238/pi43.2.2003.70-2

Abstract

Familial Hypophosphatemic Rickets (FHR) wasfound for the first time by Albright in 1937 andis also called vitamin D resistant rickets. 1-3 It isa disease that can occur through x-linked dominant,autosom dominant, and sporadic inheritance. 1-4Albright found that most FHR is x-linked dominanttype. 3 To distinguish between x-linked dominant andautosom dominant, the family pedigree can not beused, because it may look alike. Usually this diseasecan be distinguished genetically. The gene that isresponsible for x-linked dominant is located in Xp21while for autosom dominant is in 12p13. 4 Sporadictype can easily be distinguished from the other two.In the family pedigree, there is no other FHR patientbesides the patient himself. 3,4 The case that we areabout to report was a sporadic type FHR.
Clinical and laboratory manifestations of childhood and adult-onset systemic lupus erythematosus in Cipto Mangunkusumo Hospital Syarif Faisal; Arwin Akib; Taralan Tambunan
Paediatrica Indonesiana Vol 43 No 6 (2003): November 2003
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (345.727 KB) | DOI: 10.14238/pi43.6.2003.199-204

Abstract

Background Childhood-onset SLE is more severe than the adult type.Objective To compare the clinical and laboratory manifestationsof childhood- and adult-onset systemic lupus erythematosus (SLE).Methods A retrospective study on child and adult SLE patientswas conducted in the Division of Pediatric Allergy and Immunol-ogy, Department of Child Health and Department of Internal Medi-cine, Medical School, University of Indonesia/CiptoMangunkusumoHospital (FKUI/RSCM) Jakarta.Subjects One hundred and twenty-nine subjects met the studycriteria consisting on 54 childhood- onset (41.9%), 75 adult-onset(58.1%), and 122 (94.6%) females and 7 (5.4%) males from Janu-ary 1995 until December 2000.Results Fever, arthralgia and vasculitis were the most frequentsigns found in both childhood-onset and adult-onset SLE. The liver,spleen, lymph nodes, cardiovascular, gastrointestinal tract, andeyes were the organs involved and significantly had a larger pro-portion in the childhood-onset. Decrease of C3 was more frequentlyfound in the childhood-onset. Out of 17 childhood-onset patientswho died, 13 died at the age of 0-11 year-old. Two of the adult-onset patients also died.Conclusion Childhood-onset SLE had some different character-istics compared to adult form
Nephrologic abnormalities in neonatal asphyxia at Cipto Mangunkusumo Hospital, Jakarta Idham Amir; Vera M Manoe; Taralan Tambunan
Paediatrica Indonesiana Vol 44 No 2 (2004): March 2004
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (390.145 KB) | DOI: 10.14238/pi44.2.2004.66-72

Abstract

Introduction Neonatal asphyxia is still the leading cause of highmorbidity and mortality in developed countries, as well as in devel-oping countries including Indonesia. As a response to asphyxia,renal hypoxia occurs which is initially temporary, but if persisting,can cause permanent damage to the cortex and medulla.Objective The purpose of this study was to determine thenephrologic abnormalities in neonatal asphyxia at CiptoMangunkusumo Hospital.Methods This was a cross sectional descriptive study conductedin the Division of Neonatology, Cipto Mangunkusumo Hospital fromAugust until November 2002. Neonates with congenital malforma-tion were excluded.Results The study showed that the incidence of nephrologic ab-normalities in neonatal asphyxia based on Apgar scores at 1, 5,and 10 minutes were 65/100, 26/33, and 5/6, respectively. The riskof nephrologic abnormalities was not statistically different in se-vere asphyxia compared to moderate asphyxia. Severe asphyxiaat 1 minute Apgar scores was correlated with the occurrence ofoliguria.Conclusion In asphyxiated newborn, it is very important to inves-tigate the possibility of nephrologic abnormalities
Gastroesophageal reflux in children with chronic recurrent cough Mardjanis Said; Rianita Syamsu; Taralan Tambunan; Badriul Hegar
Paediatrica Indonesiana Vol 44 No 5 (2004): September 2004
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (325.522 KB) | DOI: 10.14238/pi44.5.2004.201-5

Abstract

Background Gastroesophageal reflux (GER) is reported to beone of the most common causes of chronic recurrent cough (CRC).In Indonesia, so far there is no published data concerning GER inchildren with CRC.Objectives To determine the prevalence of GER in children withCRC in general, and asthma in particular; and to describe the clini-cal profile associated with GER in these children.Methods This was a cross sectional study on children with CRCwho were investigated for GER using 24-hour esophageal pHmonitoring. GER was graded based on reflux index (RI) stated inpHmetry results i.e., mild (RI=5-10%), moderate (RI>10-20%), andsevere (RI>20%).Results Among 48 children with CRC, GER was detected in 22(46%) of them (mild GER in 14, moderate in 3, and severe in 5children). In 35 children with asthma, which is the most frequentcause of CRC in our hospital, GER was detected in 15. The preva-lence of GER increased parallel with the frequency of cough epi-sodes i.e., 10/27 in children with infrequent episodes of cough, 4/10 in children with frequent episodes of cough, and 8/11 in chil-dren with persistent cough. Clinical profiles associated with GERin these children were persistent/ frequent episodes of CRC andundernutrition.Conclusions The prevalence of GER in children with CRC was46%, and in those with asthma was 15/35. The clinical profilesassociated with GER are persistent/frequent episodes of CRCand undernutrition
Blood glucose levels in healthy, term, appropriate for gestational age, exclusively breastfed infants Lineus Hewis; Rulina Suradi; Taralan Tambunan
Paediatrica Indonesiana Vol 45 No 1 (2005): January 2005
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (477.125 KB) | DOI: 10.14238/pi45.1.2005.7-13

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Objective This study aimed to determine blood glucose levels ofhealthy, term, appropriate for gestational age (AGA), exclusivelybreastfed infants at the age of 6, 12, 24, 48, and 72 hours of life,and to investigate the incidence of hypoglycemia in those infants.Methods All healthy, term, AGA infants born in CiptoMangunkusumo General Hospital, Jakarta, who were exclusivelybreastfed during the recruitment period of December 2003 untilFebruary 2004, were included in this study. These infants weresubjected to blood glucose level determination at the age of 6, 12,24, 48, or 72 hours of life, and the clinical signs of hypoglycemiawere monitored.Results Two hundred and fifteen blood samples taken from 137newborns were studied. There was no incidence of hypoglycemiaobserved, whether symptomatic or asymptomatic. The range ofblood glucose levels was between 41 mg/dl and 115 mg/dl. Themeans and the standard deviations (SD) of the blood glucose lev-els of the 6-, 12-, 24-, 48- and 72-hour old infants were 59.7 (11.98)mg/dl, 64.1 (13.51) mg/dl, 65.9 (14.42) mg/dl, 67.0 (14.95) mg/dl,and 78.6 (16.51) mg/dl, respectively.Conclusions The current concern for hypoglycemia in the popu-lation of healthy, term, AGA, exclusively breastfed infants duringthe first few days of life was not proven to exist. Therefore, there isno reason to resort to prelacteal feeding in such infants
Cyclophosphamide in frequent-relapsing or steroid-dependent nephrotic syndrome: Review of 38 patients Yulia Iriani; Taralan Tambunan; Sudigdo Sastroasmoro
Paediatrica Indonesiana Vol 45 No 1 (2005): January 2005
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (475.6 KB) | DOI: 10.14238/pi45.1.2005.18-23

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Background Steroid-sensitive nephrotic syndrome (SSNS) in chil-dren is characterized by relapsing courses in a substantial propor-tion of affected individuals. Children with frequent-relapsing neph-rotic syndrome (FRNS) or steroid-dependent nephrotic syndrome(SDNS) are at risk of severe steroid toxicity and need individual-ized treatment. Previous studies have elucidated that cyclophos-phamide (CPA) reduced the risk of relapses and increased thelength of subsequent remissions in children with relapsing SSNS.Methods This retrospective study evaluated 38 patients (26 FRNSand 12 SDNS) after cyclophosphamide therapy to elucidate theefficacy of CPA in FRNS or SDNS in the Department of Child Health,Cipto Mangunkusumo Hospital. All patients were treated with CPA(2 mg/kg per day) for 8 weeks, in combination with prednisone.Results The median (range) duration of follow up was 45 months(24-140 months) for FRNS and 29 months (24-63 months) forSDNS. The mean relapse rate one year prior to CPA therapy inFRNS and SDNS were 3.8 relapses/year (95%CI 3.4; 4.2) and 4.0relapses/year (95%CI 3.3; 4.7), which were reduced to 1.6 relapses/year (95% CI 1.1; 2.1) and 2.3 relapses/year (95%CI 1.5;3.2), re-spectively. The overall rate of cumulative sustained good response(complete remission or infrequent relapses) was 65% after 36months. Frequent relapsing versus steroid-dependent status wassignificantly correlated with rate of sustained good response after36 months (85% versus 15%) with OR=23 (95%CI 3.1;225.2).Conclusion The efficacy of cyclophosphamide therapy in themanagement of FRNS is better than in SDNS
Profiles of patients with urinary incontinence in the Department of Child Health, Cipto Mangunkusumo Hospital Eveline P N; Taralan Tambunan; Sri Rezeki S Hadinegoro
Paediatrica Indonesiana Vol 45 No 2 (2005): March 2005
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi45.2.2005.87-92

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Background Urinary incontinence (UI) in children is a form ofwetting. Early diagnosis and treatment are mandatory to avoidcomplications such as recurrent urinary tract infections (UTI),vesicoureteral reflux (VUR), or renal damage.Objective To study the profiles and clinical course of UI in chil-dren treated in Cipto Mangunkusumo Hospital.Methods The study was divided into 2 parts. The first part was areview of patients with UI at Cipto Mangunkusumo Hospital fromJanuary 2000 to December 2003. The second was a case seriesof patients followed up for at least 6 months.Results There were 35 UI patients aged 3 months to 16 years,mostly between 1 to 5 years old, 16 were males and 19 females.The most prevalent etiology was myelodysplasia (15 cases) fol-lowed by posterior urethral valve, and bladder tumor. The mostprominent clinical presentation of neurophatic bladder-sphincterdysfunction was wetting, while those of patients with structural in-continence and non-neuropathic bladder-sphincter dysfunctionwere fever and polakysuria. Most patients had been suffering fromrenal insufficiency since their first visit. Clean intermittent catheter-ization (CIC) was the treatment of choice. In a six-month follow-upof 14 patients who received adequate treatment, renal functioncould be maintained at relatively stable condition in most cases.Conclusions Myelodysplasia was the most common etiology ofUI. Most patients had renal insufficiency or renal failure since theirfirst visit, reflecting a extended period of relapse before patientsseek medical help. Renal function can be maintained by adequatetreatment in most cases
Socio-economic and environmental factors affecting the rehabilitation of children with severe malnutrition Felliyani Felliyani; Sri S Nasar; Taralan Tambunan
Paediatrica Indonesiana Vol 45 No 3 (2005): May 2005
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi45.3.2005.99-106

Abstract

Background Poor diet and high infection rates inflicted by lowsocio-economic status and poor environments among infants andyoung children appear to be major causes of severe malnutrition.Objective To determine the practical and likely effectiveness inrehabilitation of severe malnutrition.Methods A descriptive observational study was conducted on 27children at three different sites: (1) Five inpatients at the InpatientWard, Cipto Mangunkusumo Hospital, Jakarta (IP-CM); (2) 8 out-patients at the Metabolic and Nutrition Clinic, Cipto MangunkusumoHospital (OP-CM); (3) 14 outpatients at the Nutrition Clinic, Bogor(NC). All the patients followed were aged <60 months and suf-fered from severe malnutrition (weight for length index <-3 NCHSZ-score). Subjects were followed for 12 weeks. The IP-CM groupreceived standard treatment following the WHO recommendation,while the OP-CM and NC group received proper medical treat-ment and nutrition education for mothers. The OP-CM group un-derwent more extensive laboratory investigations.Results All children generally had low socio-economic status. Mostchildren experienced poor feeding, child care, and other healthpractices. A tendency of increased prevalence, number of episodes,and duration of infectious diseases was noted in the majority ofsubjects. However, an improvement of nutritional status was ob-served during treatment in all groups, particularly in the IP-CMgroup.Conclusion Socio-economic status and environmental factorsmust be considered in the management of severe malnutrition.Educating parents concerning proper feeding and child care prac-tices appears to be of permanent nutritional benefit for the chil-dren.