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All Journal BALI MEDICAL JOURNAL (BMJ) Medicina E-Jurnal Medika Udayana E-Jurnal Agroekoteknologi Tropika (Journal of Tropical Agroecotechnology) Sari Pediatri JURNAL HAMA DAN PENYAKIT TUMBUHAN TROPIKA Paediatrica Indonesiana CHEESA: Chemical Engineering Research Articles ISM (Intisari Sains Medis) : Jurnal Kedokteran Distilat: Jurnal Teknologi Separasi Jurnal Rekayasa Proses
I Made Arimbawa
Department Of Child Health, Medical Faculty, Udayana University, Indonesia
Agriculture, Biological Sciences & Forestry Biochemistry, Genetics & Molecular Biology Chemical Engineering, Chemistry & Bioengineering Chemistry Health Professions Medicine & Pharmacology

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Journal : Medicina

 1 
SECKEL SYNDROME IN A - 2 YEAR OLD GIRL Yulius Malino, Imanuel; Arimbawa, Made; Suryawan, Bikin
Medicina Vol 44 No 1 (2013): Januari 2013
Publisher : Medicina

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Abstract

Seckel syndrome is a frequent autosomal recessive that cause microcephalic osteodysplastic dwarfisms. It characterized with proportionate dwarfism of prenatal onset, dysmorphic features including severe microcephaly and “bird-headed” like appearance, mental retardation and autosomal recessive inheritance, becausedefect on chromosome 3q22.1-q24 (SCKL1), chromosome 18p11.31-q11.2 (SCKL2) and chromosome 14q23 (SCKL3). We reported, 2 years, 8 months female with intrauterine growth restriction, severe proportionately short stature, a “bird-headed” profile with receding forehead, large eyes, breaks like protrusion of the nose, narrow face, receding lower jaw and micrognathia and from bone survey we found a retarded bone age on which was appropriate for 6 months of age.There was no other systems dissorder have been found and no specific medication has been given. Patient was hospitalized to establish diagnosis and was dischargedafter ten days of hospitalization
MIXED GONADAL DYSGENESIS IN A SEVEN MONTH OLD BABY Krishna Levina, Made Ayu; Arimbawa, I Made
Medicina Vol 45 No 1 (2014): Januari 2014
Publisher : Medicina

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Mixed gonadal dysgenesis is a very rare case with genital ambiguity as a clinical manifestation.Diagnosis of this condition is emerging due to proper gender assignment and  prompt treatment toachieve optimal physical and psychologic development. We reported a genital ambigous in a 7 month old baby, who was referred with enlargement of clitoris, an unpalpable testis, but with a highconcentration testosteron serum level, an uterus from genitography, and a mosaic karyotype 45,X/46,XY. The working diagnosis of this baby is mixed gonadal dysgenesis. Patients is being evaluated by a multidisciplinary team and planned having laparoscopy.  [MEDICINA 2014;45:52-57]
HIPERPLASIA ADRENAL KONGENITAL (HAK) KLASIK SIMPLE VIRILIZING PADA ANAK UMUR 3 TAHUN Indradjaja, Alice; Bikin Suryawan, I Wayan; Arimbawa, I Made
Medicina Vol 45 No 1 (2014): Januari 2014
Publisher : Medicina

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Hiperplasia adrenal kongenital merupakan salah satu dari kelompok kelainan genetik akibat defisiensi enzim yang diperlukan untuk biosintesis steroid di korteks kelenjar adrenal. Bentuk kelainan hiperplasia adrenal kongenital yang tersering adalah defisiensi enzim 21-hidroksilase (21OHD) hingga mencapai 90% kasus. Kelainan utama pada pasien dengan defisiensi enzim 21-hidroksilase adalah kegagalan sintesis kortisol secara adekuat. Defisiensi 21-hidroksilase klasik tipe virilisasi sederhana menyebabkan genitalia ambigu pada bayi perempuan. Dilaporkan sebuah kasus hiperplasia adrenal kongenital klasik tipe virilisasi sederhana pada anak perempuan usia tiga tahun. Pasien dirujuk ke Poliklinik anak RSUP Sanglah Denpasar dengan keluhan utama pembesaran dan pemanjangan klitoris yang progresif disertai tumbuhnya bulu pubis.  Pasien lahir dengan genitalia ambigu. Pasien didiagnosis defisiensi 21-hidroksilase berdasarkan hasil pemeriksaan kadar progesteron 17-OH >1.200ng/dl dan pemeriksaan fisik didapatkan prader derajat III. Pada pemeriksaan usia tulang menunjukkan usia tulang yang melebihi umurnya, USG abdomen dalam batas normal dengan hasil analisis kromosom 46,XX. Pasien tidak pernah mengalami krisis adrenal selama 3 tahun dan menjalani tindakan pembedahan pada usia 3 tahun. Keluarga pasien diberikan konseling, dilakukan monitor  berkala pada pasien dan terapi hidrokortison. Prognosis pada pasien ini baik. [MEDICINA 2014;45:58-64].
PREVALENCE AND ASSOCIATION OF GLYCOSURIA WITH SEVERAL RISK FACTORS FOR DIABETES MELLITUS IN PRIMARY SCHOOL CHILDREN IN BALI Sutawan, Ida Bagus Ramajaya; Suryawan, I Wayan Bikin; Arimbawa, I Made
Medicina Vol 45 No 3 (2014): September 2014
Publisher : Medicina

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Abstract

Nowadays, diabetes mellitus (DM) is often found in children. One of important screening for DM isurine examination to determine glycosuria. The current data on the prevalence of glycosuria in childrenin Indonesia, including Bali is very limited.The purpose of this study is to determine the prevalence ofglycosuria in primary school children in Bali and the association of several risk factors for DM on theoccurrence of glycosuria.A cross sectional study of children aged 6-12 years in several primary schoolsin Bali was done. Samples were taken using multistage random sampling technique. Glycosuria wasdetermined by urine reagent stripsand determination of risk factors for DM was by questionnaire andphysical examination. Total of 1020 children were examined in this study. Fiftyone point five percentsof samples were male, obesity was found in 36.8% of samples. Family history of DM was found in 2.6%of samples. This study found 17 cases of glycosuria with a prevalence of 1.7%. Several factors werefound associated with glycosuria, including obese with OR 5.32 (95% CI 1.65 to 17.16; P=0.005), familyhistory of DM with OR 12.98 (95% CI 3.11 to 54.27; P<0.001), and male gender with OR 6.05 (CI 95%1.34 to 27.33; P=0.019).Based on this study, it could be concluded thatthe prevalence of glycosuria wasquite high at primary school children in Bali. Therefore glycosuria screening in children needs to bedone,  especially  in  those with  risk  factors  for DM  to  detect  this  disease  earlier.  [MEDICINA2014;45:156-160].
CASE REPORT KALLMANN SYNDROME IN A 14-YEAR-OLD BOY Anggraeni, Melisa; Arimbawa, Made; Suryawan, IW Bikin
Medicina Vol 44 No 1 (2013): Januari 2013
Publisher : Medicina

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Abstract

Kallmann syndrome is a combination of hypogonadotropic–hypogonadism due to gonadotropine releasing hormone (GnRH) deficiency with anosmia or hyposmia. Magnetic resonance imaging (MRI) reveals hypoplasia or aplasia of the olfactory bulbs. The incidence is estimated at 1 in 10.000 and 50.000 males and females respectively. The main clinical features consists of the absence of spontaneous puberty, partial or total loss of the sense of smell (anosmia). In this case report, we describe a 14 year old boy with Kallmann syndrome who was refferred with delayed puberty and lack of smell function. Physical examination revealed Tanner stage I and proven anosmia from olfactory test. Laboratory test showed low titer of testosteron. Testicular ultrasonography (USG) revealed small testicles. Treatment of this particular patient was with a 25 mg of intramuscular testosterone injection and were then increased by 25 mg every two weeks. Proper management of patients with Kallmann syndrome usually allows them to attain normal reproductive health.
Co-Authors Alice Indradjaja, Alice Aman B Pulungan Anak Agung Ngurah Ketut Putra Widnyana Ayu Diah Perdana Paramita Bambang Tridjaya AAP Boy Arief Fachri Damastra, Garda Bagus Dewi, Ni Nyoman Gita Kharisma Fadilah, Siska Nuri Felix Arie Setiawan Gusti Ayu Putu Sri Satya Mahayani Gusti Ngurah Alit Susanta Wirya H Salim Hendy Halim Herman Saputra Herman Saputra I Gde Ardika Nuaba I Gde Ardika Nuaba I Gde Raka Widiana I Gusti Agung Trisna Windiani I Gusti Lanang Sidiartha I Gusti Ngurah Sanjaya Putra I K Kari I Made Darma Yuda I Made Kardana I MADE SUDANA I MADE WINANTARA I Nyoman Budi Hartawan I Putu Sudiarta I Wayan Bikin Suryawan I Wayan Gustawan Ida Bagus Gede Suparyatha Ida Bagus Ramajaya Sutawan, Ida Bagus Ramajaya Imanuel Yulius Malino Jose RL Batubara Kadek Adi Suryamulyawan Kartika Yantie, Ni Putu Veny Ketut Ariawati Ketut Suarta Khamil, Achri Isnan Komang Ayu Trisna Dewi Komang Ayu Witarini Leni Lukman Lestari, Afrila Tutut Dwijati Luh Gede Yuliadewi NS Luh Gede Yuliadewi NS Made Ayu Krishna Levina, Made Ayu Made Dwi Purnami Made Gede Dwi Lingga Utama Melisa Anggraeni Muharja, Maktum Ni Made Adi Tarini Ni Putu Siadi Purniti NP Veny Kartika Yantie Paramita, Ayu Diah Perdana Prastika, Andika Putri, Navisa Ayudia Putu Gede Karyana, Putu Gede Putu Meitri Nirmala Utami Rizki Fitria Darmayanti SANJAYA, I GUSTI NGURAH PRABU WIRA Selangga, Dewa Gede Wiryangga Setiyawan, I Made Karma Sholeha, Irdatus Soetjiningsih Soetjiningsih Wardhani, Maharani Tri Wega Upendra Sindhughosa Wibowo, Jihan Nafila Zakwan bin Ahmad