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All Journal Paediatrica Indonesiana Journal of the Indonesian Medical Association : Majalah Kedokteran Indonesia Cermin Dunia Kedokteran
Gultom, Lanny Christine
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Biochemistry, Genetics & Molecular Biology Education Health Professions Medicine & Pharmacology Public Health

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Hipotiroid Kongenital dan Hypertrophic Pyloric Stenosis: Pemantauan Selama 3 Bulan Gultom, Lanny Christine; The, Valensia Vivian
Cermin Dunia Kedokteran Vol 49, No 2 (2022): Infeksi
Publisher : PT. Kalbe Farma Tbk.

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (421.81 KB) | DOI: 10.55175/cdk.v49i2.1730

Abstract

Angka kejadian hipotiroid kongenital (HK) berkisar 1 : 2000-4000 bayi. Deteksi dan tata laksana dini diperlukan agar fungsi neurologi dan perkembangan pasien optimal. Salah satu penyebab muntah berulang pada bayi adalah hypertrophic pyloric stenosis (HPS). Deteksi dan tatalaksana HPS penting karena HPS dapat menyebabkan gagal tumbuh hingga gizi buruk yang berdampak pada IQ. Kasus: Bayi usia 2 bulan tanpa skrining hipotiroid kongenital, masuk ke rumah sakit dengan gejala khas hipotiroid kongenital, yaitu ubun-ubun terbuka, wajah tampak kasar,makroglosia, kulit kering dan dingin, gagal tumbuh, dan hernia umbilikalis. Selain gejala HK, bayi juga memiliki keluhan muntah berulang yang kemudian didiagnosis HPS. Terapi medikamentosa yang tepat dengan levothyroxine, tindakan pembedahan, dan nutrisi yang adekuat harusdiberikan agar tumbuh kembang optimal.
The role of early aggressive nutrition on growth of very preterm or very low birth weight infants Insani, Nadia Dwi; Rohsiswatmo, Rinawati; Sjarif, Damayanti Rusli; Marsubrin, Putri Maharani Tristanita; Yuliarti, Klara; Gultom, Lanny Christine
Paediatrica Indonesiana Vol. 64 No. 4 (2024): July 2024
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14238/pi64.4.2024.318-24

Abstract

Background Very preterm infants (<32 weeks gestational age) are at high risk of poor neurodevelopmental outcomes. Early aggressive parenteral nutrition (protein ³ 2g/kg/day) can reduce the incidence of malnutrition in very preterm infants. At present, Fatmawati General Hospital does not have a standard nutritional protocol for preterm infant. Objective To determine the difference in growth (days to regain birth weight and growth velocity) of very preterm (<32 weeks gestational age) or very low birth weight (VLBW) (<1500g) infants who were born and hospitalized in the Neonatal Unit of Fatmawati General Hospital, Jakarta, before and after applying early aggressive parenteral nutrition using a nutrition protocol from Cipto Mangunkusumo Hospital, Jakarta. Methods A quasi-experimental study was conducted on 23 very preterm or VLBW infants in the Neonatal Unit of Fatmawati General Hospital, from July to November 2019. Control group data were taken from medical records of very preterm or VLBW babies discharged from our unit from January 2018 – to June 2019 and compared to those of the intervention group. Results The intervention group regained their birth weight significantly faster than the control group [mean 7.43 (SD 3.5) vs. 16.73 (SD 5.1) days, respectively; (P=0.00)]. Mean growth velocity was also significantly higher in the intervention group than in the control group [14.6 (SD 6.0) vs. 8.9 (SD 6.9) gram/kg/day, respectively; (P=0.002)]. Conclusion Provision of early aggressive parenteral nutrition reduces the time to regain birth weight and leads to higher growth velocity in very preterm/VLBW infants.
Pengalaman dalam Penegakkan Diagnosis Neuronal Ceroid Lipofuscinosis Tipe-2 Gultom, Lanny Christine; The, Valensia Vivian
Majalah Kedokteran Indonesia Vol 71 No 5 (2021): Journal of The Indonesian Medical Association - Majalah Kedokteran Indonesia, Vo
Publisher : PENGURUS BESAR IKATAN DOKTER INDONESIA (PB IDI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.47830/jinma-vol.71.5-2021-452

Abstract

Introduction: Developmental regression is always an alarming symptom in children as it is an early sign of some genetic disorders, one of which is neuronal ceroid lipofuscinosis (NCL). NCL is a group of rare neurodegenerative disorder caused by accumulation of intracellular ceroid lipofuscin. Since 2017 an enzyme replacement therapy (ERT) has been approved by Food and Drug Administration (FDA) for this disease. The symptoms of NCL could be managed by ERT if detected early, and the child could live normally.Case: We present a case of a 6-year-and-5-month-old boy with developmental regression, speech delay, recurrent seizure, and visual impairment, who was diagnosed with NCL type 2 after genetic testing. Compound heterozygous mutations in tripeptidyl-peptidase 1 (TPP1) gene was revealed, consistent with very low level of TPP1 enzyme in this patient.Discussion: NCL is a fatal disease which is often misdiagnosed in early stage. Diagnostic delay of NCL often occurs due to lack of awareness which often leads to premature death.Conclusion: Knowledge regarding the disease is important for early detection and to slow down the disease progression.
Co-Authors Damayanti Rusli Sjarif Insani, Nadia Dwi Marsubrin, Putri Maharani Tristanita Rinawati Rohsiswatmo The, Valensia Vivian Yuliarti, Klara