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Yudha Patria
Department of Child Health, Gadjah Mada University Medical School/Dr. Sardjito Hospital, Yogyakarta, Central Java
Health Professions Medicine & Pharmacology

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Relationship of obesity and secondary sexual development in girls Ida Ayu Sri Kusuma Dewi; Soetjiningsih Soetjiningsih; Yudha Patria
Paediatrica Indonesiana Vol 50 No 1 (2010): January 2010
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (437.465 KB)

Abstract

Background Obesity is a pathological condition due to consumption of excessive amount of food and is associated with early sexual maturation and irregular cycle of menstruation. Early sexual maturation is estimated from the age of menarche.Objective To determine relationship of obesity and age of secondary sexual development in girls.Methods This cross-sectional study was performed on all elementary school students in 4 sub-districts at Denpasar. Nutritional status was determined by BMI. Radiologic examination was performed to determine the bone age. Data were analyzed with appropriate statstical methods.Results Mean chronological age of breasts development for B2 and B3 stage on obese group was younger than non-obese groups (9.0 vs 9.9, P = 0.001; 9.7 vs 10.9, P = 0.006). Early menarche more frequent in obese group than non-obese groups {PR 5 (CI 95% 1.33 to 19.71)}. Mean age of children who experienced menarche on obese group was younger than non-obese group {10.9(SD 0.61) vs 11.1 (SD 0.28). Univariate analysis showed that maturation age of secondary sexual development on obese groups was differed with non-obese group {8.9 (SD 0.21) vs 9.4 (SD 0.13). Linear regression analysis showed relationship between age of breasts and pubic hair growth on both groups.Conclusions This study established that mean age of secondary sexual development was younger in obese girl than non-obese group. Bone age range on obese girls was wider than non-obese girls. [Paediatr Indones. 2010;50:49-5].
Sodium channels of SCNIA gene mutations in generalized epilepsy with febrile seizure plus (GEFS+) spectrum related to autism Elisabeth Herini; Yudha Patria; Gunadi Gunadi; Surini Yusoff; Indra SAri Kusuma Harahap; Sunartini Sunartini; Sutaryo Sutaryo; Satoshi Takada; Hisahide Nishio
Paediatrica Indonesiana Vol 50 No 3 (2010): May 2010
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (438.04 KB) | DOI: 10.14238/pi50.3.2010.125-32

Abstract

Background Mutations in the a-subunit of the first neuronalsodium channel gene SCNIA have been demonstrated forgeneralized epilepsy \\lith febrile seizures plus (GEFS+), severemyoclonic epilepsy in infancy (SMEI), and borderline SMEI(SMEB). SCNIA mutations are also described in patients 'Withpsychiatric disorders such as autism.Objective To identify the mutations of SCNIA gene in patientswith GEFS+ spectrum which may be related to autism.Methods We examined four patients v.ith autism and GEFS+spectrum who were admitted to the Department of Child Health,Sardjito Hospital, Yogyakarta, Indonesia. Diagnosis of autism wasbased on DSM􀁟IV;ICD X criteria. Mutations in SCNIA wereidentified by PCRamplification and denaturing high􀁟performanceliquid chromatography analysis, Mth subsequent sequencing.Results There were four patients, all boys, aged 1.8 year to 7 years.The phenotypes of epilepsy were GEFS+ in one patient, SMEBin one patient and SMEI in two patients. Sequencing analysisrevealed a G􀁟to􀁟A heterozygous transition which was detectedat nucleotide c.4834G>A (p.V1612I ) in exon 25. Other singlenucleotid polymorphisms (SNPs) were c.383 +66T>C in intron 2,c.603-91G>A and c.603-1060> T in intron 4, c.965-21C> T inintron 6, c.1028+21T>Cin intron 7, c.2173G>A in exon 12 andc. 2177-38C>A, c.2177-12delT, c.2176+44C> T in intron 12.Conclusion In this study, we reported the first cases Mth mutationin SCNIA gene in GEFS+ spectrum related to autistic patientsin Indonesian population, which showed a missense mutationp.V16121. [Paediatr lndones. 2010;50:125-32].
Co-Authors Elisabeth Herini Gunadi Gunadi Hisahide Nishio Ida Ayu Sri Kusuma Dewi Indra Sari Kusuma Harahap Satoshi Takada Soetjiningsih Soetjiningsih Sunartini Sunartini Surini Yusoff Sutaryo Sutaryo