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All Journal Journal of the Indonesian Medical Association : Majalah Kedokteran Indonesia Cermin Dunia Kedokteran Journal of General Procedural Dermatology and Venereology Indonesia
The, Valensia Vivian
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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.
Impact of scabies on Indonesian public boarding school students’ quality of life: A mixed-method analysis Menaldi, Sri Linuwih SW; Surya, Danny; The, Valensia Vivian; Marissa, Melani
Journal of General - Procedural Dermatology & Venereology Indonesia Vol. 5, No. 2
Publisher : UI Scholars Hub

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Abstract

Background: Scabies is a neglected tropical disease in which people affected primarily presents with intense pruritus. The disease is often recurrent, especially in people living in close contacts, such as in a community; thus, it negatively impacts their quality of life (QoL).This study analyzes the impact of pruritus in scabies on the QoL of patients living in a public boarding school (PBS) in West Java, Indonesia. Methods: This study is a mixed-method study conducted on 39 subjects. TheQoL was examined using the Indonesian version of the dermatology life quality index (DLQI) questionnaire and in-depth interviews. Results: Most subjects were female, grade 9 students, had a duration of symptoms between six months to one year, had been infected more than twice, and with no family member affected by the same symptoms. We found that sex, duration of symptoms, disease frequency, and affected family members did not significantly affect subjects’ QoL. In-depth interviews revealed that pruritus affected social relationships, quality of learning, and sleeping. Conclusion: Holistic and comprehensive community management is needed to treat and prevent scabies transmission, as its symptoms negatively impact the QoL of students in PBS.
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 Gultom, Lanny Christine Marissa, Melani Menaldi, Sri Linuwih SW Surya, Danny