Aman B Pulungan

Diversity of sex chromosome abnormalities in a cohort of 95 Indonesian patients with monosomy X

BackgroundMonosomy × or 45,X is a cytogenetic characteristic for Turner syndrome. This chromosome anomaly is encountered in around 50% of cases, but wide variations of other anomalies have been found. This report is to describe the cytogenetic characteristics of 45,X individuals. To the best of our knowledge, there were no large series of 45,X cases has been reported from Indonesia.ResultsNinety five cases with 45,X cell line found, of which 60 were detected by karyotyping, 4 by FISH for sex chromosomes, and 31 by both karyotyping and FISH. Using karyotyping 37 out of 91 cases(40.6%) were identified as 45,X individuals, while cases who underwent FISH only 4 out of 35 cases (11.4%) showed 45,X result, resulting in total of 39 45,X cases (41.1%), and the rest 56 (58.9%) cases are mosaic. Among these cases, 21 out of 95 (22.1%) have Y or part of Y as the second or third sex chromosome in their additional cell lines. Result discrepancies revealed in 22 out of 31 cases who underwent both FISH and karyotyping, of which 7 showed normal 46,XX or 46,XY karyotypes, but by FISH, additional monosomy × cell line was found. Most of the cases were referred at the age of puberty (8-13 years old) or after that (14-18 years old), 31 and 21 cases respectively, and there were 14 cases were sent in adulthood.ConclusionWide variations of sex chromosome aberrations have been detected using the combination of conventional cytogenetic and FISH, including detection of low level of mosaicism and Y-chromosome fragments. Result discrepancies using both techniques were found in 22/31 cases, and in order to obtain a more details of sex chromosome constitution of individuals with 45,X cell line both FISH and karyotyping should be carried out simultaneously.

Vitamin D profile in healthy children aged 7-12 years old in Indonesia

Background The recent data on the vitamin Dshowed a surprising result, which exhibited in high prevalence of vitamin D deficiency and insufficiency in children and adolescence. Thisnot only occurs in country that lies in high latitude but also in sun rich country. Many factors contributing to this condition, including changing in life style. No data available regarding vitamin D status in healthy children in Indonesiaand this will be the first study addressing this issue.

Prevalence of insulin resistance in obese adolescence

Childhood obesity is a global health problem with several metabolic and cardiovascular complications. The prevalence of childhood and adolescent obesity is differed in each country with several affecting factors. Insulin resistance as one common feature of obesity is known to have a link with the risk of diabetes type 2 and cardiovascular complication. Insulin resistance is also a basic mechanism of metabolic syndrome. Several mechanisms proposed the link between obesity, insulin resistance, and metabolic syndrome. This study aimed to look at the characteristics of obese adolescence with metabolic syndrome and to look for the prevalence of insulin resistance among them with several risk factors that may affect. This was a cross-sectional study on 92 obese adolescent, aged between 12 and 15 years old, in Central Jakarta, Indonesia. All adolescent underwent blood sample tests, including fasting blood glucose, lipid profile, and fasting blood insulin. Insulin resistance was defined as a HOMA-IR index of 3.8 or more. The diagnostic of metabolic syndrome was defined according to International Diabetes Federation (IDF) criteria. Insulin resistance was found in 38% of the adolescent, with a higher rate among females (57.2%) than males (42.8%) (p = 0.673). Most of them had acanthosis nigricans as the marker of insulin resistance (71.4%) (p = 0.959). Among them, 82.8% had a family history of metabolic syndrome (p = 0.646). The prevalence of metabolic syndrome among obese adolescent was 19.6% with female predominant. The prevalence of each of the component was 48.9% for high blood pressure, 78,3% for abdominal obesity, 8.7% for impaired fasting glucose level, 22.8% for low levels of high-density lipoprotein cholesterol, and 21.7% for high triglyceride level. There was a strong correlation between impaired fasting glucose level and insulin resistance (p = 0.04), with the risk of 5.7 times to get insulin resistance. Insulin resistance has a prevalence of 38% in obese adolescent population in this study. Insulin resistance has a significant association with impaired fasting glucose level.

Pengobatan Testosteron pada Mikropenis

Mikropenis atau hipogenitalism adalah suatu keadaan penis dengan bentuk normal namun dengan ukuran kurang dari 2.5 SD di bawah rerata menurut umur dan status perkembangan pubertas. Pengukuran penis dilakukan secara fully stretched, menggunakan spatula kayu yang diletakkan sejajar dengan dorsum penis dan ditekan sampai simfisis pubis. Panjang penis adalah jarak dari simfisis pubis sampai ujung glans penis dan tidak dalam keadaan ereksi. Pengobatan mikropenis terhadap 23 anak dengan rerata usia 9.6 tahun dilakukan dengan pemberian testosteron ester intramuskular setiap 3 minggu sebanyak 4 kali. Pasca terapi penis bertambah panjang 85% dibandingkan sebelum terapi. Tidak terlihat adanya pertambahan usia tulang dengan protokol yang digunakan.

Tingkat Kepuasan Orangtua Pasien di Pediatri Rawat Jalan Departemen Ilmu Kesehatan Anak Rumah Sakit Umum Pusat Dr. Cipto Mangunkusumo Jakarta

Latar belakang. Sejak tahun 2000 hingga kuartal I tahun 2005 angka kunjungan pasien rawat jalan mengalami penurunan secara gradual di Unit Rawat Jalan Departemen Ilmu Kesehatan Anak Rumah Sakit Umum Pusat Dr. Cipto Mangunkusumo (URJ Departemen IKA RSUP CM) Jakarta. Kecenderungan penurunan angka kunjungan pasien merupakan indikator bagi pengelola untuk meninjau kembali strategi pelayanan di Pediatri Rawat Jalan. Tujuan Penelitian. Meneliti tingkat kepuasan orangtua pasien yang membawa anaknya berobat jalan di URJ Departemen IKA RSCM. Metoda penelitian. Studi survai deskriptif dengan metode potong lintang (cross sectional) dilakukan di URJ Departemen IKA RSCM dalam kurun waktu Agustus – Nopember 2005. Pengumpulan data primer menggunakan kuesioner yang terstruktur berisi 30 pertanyaan. Hasil penelitian. Dari 144 orang tua pasien, enam puluh dua persen orangtua pasien merasa puas terhadap kualitas pelayanan, skor kepuasan total terhadap dimensi kualitas pelayanan 3,55 (puas). Bukti fisik (tangibility) memberi skor kepuasan tertinggi sedangkan kehandalan pelayanan (reliability) memberi skor kepuasan terendah bagi orangtua pasien. Kesimpulan. Kualitas pelayanan di URJ Departemen IKA RSCM memuaskan (skor 3,55) dan persentase orangtua pasien yang puas 62%.

Evaluation of parental knowledge after establishing CAH clubs in Vietnam & Indonesia

The incidence of Congenital Adrenal Hyperplasia (CAH) in some Asian countries is far higher than in Australia, (eg 1:6000 as per the Filipino Newborn Screening Program). For many families in low and middle-income countries in Asia resources are limited, affordable and reliable access to essential medicines is problematic, and families living remotely are required to travel long distances for medical care [1]. CAH is associated with significant physical & psychosocial consequences for affected children & their families where treatment is suboptimal, so there are important equity implications for the global CAH and paediatric endocrinology communities to consider. Health education is an integral component of health care in any setting. “CAHPepTalk” is an educational resource that was developed initially for CAH families in Australia. This validated educational resource has been produced in DVD format and can be facilitated by one health professional. The program includes a translated validated CAH Knowledge Assessment Questionnaire (CAHKAQ) [2], to enable staff to assess patient knowledge in order to evaluate educational needs. In collaboration with CLAN (Caring & Living As Neighbours), an Australian NGO committed to optimal quality of life for all children living with chronic health conditions), translation of “CAHPepTalk” into Vietnamese & Indonesian was undertaken, & distributed to CAH Communities in the Asia-Pacific region, was supported by CLAN. Knowledge of parents of children with CAH in Vietnam and Indonesia was assessed prior to families attending education programs run at CAH Club meetings supported by CLAN, in 3 settings: Hanoi, Ho Chi Minh City & Jakarta. 260 questionnaires have been completed by parents. The results to be presented will include knowledge, management & demographics. Using the CAHKAQ is the first step in the education process in order to improve health outcomes for families in any setting, within Australia, Vietnam or Indonesia.

Effect of bisphosphonate treatment in osteogenesis imperfecta children in Cipto Mangunkusumo Hospital Jakarta

Results Seventy-seven OI cases (39 male), which were diagnosed at the age of 1 9 years old were recorded. Five patients underwent surgery and three patients died before commencing treatment. Nine patients received intravenous pamidronate and sixteen patients received zolendronic acid therapy. Liver and renal functions, as well as serum electrolyte levels were evaluated before and after treatment. Eight patients reported hyperthermia and three others experienced fatigue, bone pain, and abdominal pain within 24 hours of therapy. Serum calcium level decreased in eight patients. No serious adverse effects were documented.

The role of community development in improving awareness, diagnosis and management of childhood non-communicable diseases (NCDs) in Indonesia

Results Establishment of clubs and registers increased known prevalence across Indonesia: a 4.5 fold increase in CAH, from 65 patients (2008) to 293 (2014); 2 fold increase in OI, from 35 patients (2013) to 70 (2014); 5 fold increase in Diabetes, from 156 patients (2009) to 960 (2014). Access to medicines improved: donations of hydrocortisone (oral and injectable) and fludrocortisone co-ordinated by KAHAKI and CLAN, with efforts to register nationally; bisphosphonates included in national insurance scheme following launch of FOSTEO. Translation of educational resources and focused training for health professionals coincided with reduced presentations of children to hospital in adrenal crisis and diabetic ketoacidosis and reduced mortality from CAH and Diabetes. Media reports increased across all groups and information sharing amongst community members enhanced by WhatsApp.

Growth status of first grader children in elementary schools in Watu Alo, Manggarai, East Nusa Tenggara

Results CDC: the children are 74% short; 26% normal stature (median: 109 cm), 21.9% underweight; 69.4% normal weight; 6.1% overweight; and 2.6% obese (median: 18 kg). WHO: 72.4% of the children are normal stature; 20.9% stunted; 6.6% severely stunted, 84.7% normal weight; 6.6% risk of overweight; 6.6% wasted; 1% overweight; 0.5% obese; 0.5% severe wasted. Conclusions To interpret the growth status, clinical judgement is also needed to be considered. Children growth status should be monitored continuously. Standardized national growth chart for Indonesian children should be made.

Bisphosphonates as treatment of secondary osteoporosis in children: a case series

Case Series We included 6 patients (2 boys, 4 girls), 7–15 years of age with secondary osteoporosis who were treated with biphosphonate. Two patients were diagnosed acute lymphoblastic leukemia, two patients with systemic lupus erythematosus and others with juvenile rheumatoid arthritis. Two patients received methotrexate and dexamethasone; one patient was treated with methotrexate and prednisone; two patients with methylprednisolone; and rest with only methotrexate. Four of them suffered back pain due to trauma and from radiographic examination showed multiple compression fracture on the vertebrae. Lumbal BMD Z-score was ranging from -2.8 to -5.1 in patients who had fracture, while in patients without fracture -2.6 to -3.1. We used zoledronic acid 0.05 mg/kgBW. Two patients already received pamidronate as previous treatment. In 6 12 months of followup, there were evidence of reduced pain, improved mobility and BMD Z-score, also no evidence of new fractures in radiographic evaluation. Conclusion Bisphosphonates appears to be safe and effective as treatment for children with secondary osteoporosis.