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All Journal Media Dermato-Venereologica Indonesiana Neurona Acta Neurologica Indonesia
Indrawati, Luh Ari
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Health Professions Medicine & Pharmacology Neuroscience Public Health

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DERMATOMIOSITIS ANTI-MDA5: LAPORAN DUA KASUS SUATU ENTITAS DENGAN MANIFESTASI DAN PROGNOSIS BERAGAM Halim, P. Anthony; Hamdali, Christie; Pranathania, Andravina; Fitri, Eyleny Meisyah; Budianti, Windy Keumala; Novianto, Endi; Indrawati, Luh Ari
Media Dermato-Venereologica Indonesiana Vol 52 No 1 (2025): Media Dermato Venereologica Indonesiana
Publisher : Perhimpunan Dokter Spesialis Kulit dan Kelamin Indonesia (PERDOSKI)

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.33820/mdvi.v52i1.505

Abstract

Pendahuluan: Dermatomiositis anti-melanoma differentiation-associated protein 5 (DM-MDA5) adalah penyakit autoimun sistemik langka yang memiliki temuan klinis bervariasi dan banyak dipelajari dalam satu dekade terakhir. Subtipe tersebut umumnya bermanifestasi sebagai DM amiopatik atau hipomiopatik, sering disertai intersitial lung disease (ILD) berpotensi fatal. Dalam makalah ini, kami melaporkan untuk pertama kalinya di Indonesia, variasi gambaran klinis, radiologis, laboratorium, dan prognosis dua kasus DM-MDA5. Kasus: Pasien pertama, seorang perempuan 25 tahun dengan ruam kemerahan khas DM, kelemahan otot ringan, artralgia, dan alopesia. Pasien kedua, seorang perempuan 43 tahun dengan ruam kemerahan khas DM, ulserasi kulit, rambut rontok, kelemahan otot, nyeri sendi, dan sesak nafas. Diagnosis DM ditegakkan sesuai kriteria Sontheimer dan American College of Rheumatologist/European League Against Rheumatism (ACR/EULAR) 2017. Pada kedua pasien terdeteksi anti-MDA5 dengan titer positif kuat. Rontgen toraks dan CT scan menunjukkan ILD pada pasien kedua. Tata laksana kombinasi menggunakan kortikosteroid dan imunosupresan sistemik, kortikosteroid topikal, penghambat kalsineurin topikal, dan fotoproteksi ketat memperbaiki gejala klinis pada kedua pasien. Diskusi: Pasien DM-MDA5 dapat digolongkan menjadi beberapa fenotipe klinis sesuai temuan klinis dan laboratorium, dengan prognosis beragam terkait insidensi ILD. Kasus pertama memiliki prognosis baik, sedangkan kasus kedua cenderung memiliki prognosis sedang. Hingga kini, belum terdapat tata laksana spesifik DM-MDA5, tetapi terapi antifibrotik dapat bermanfaat pada kasus dengan ILD. Kesimpulan: Klinisi perlu mengenali subtipe DM ini karena memiliki manifestasi yang bervariasi namun cukup khas, dengan prognosis yang beragam. Evaluasi dan tata laksana dini secara multidisiplin pada pasien DM-MDA5 dapat mencegah progresivitas penyakit dan kematian akibat komplikasi.
FENOMENA OTOT POSITIF PADA KELAINAN NEUROMUSKULAR Angelita, Michelle Cancera; Indrawati, Luh Ari; Hakim, Manfaluthy; Octaviana, Fitri; Budikayanti, Astri; Safri, Ahmad Yanuar; Wiratman, Winnugroho; Fadli, Nurul; Harsono, Adrian Ridski
Majalah Kedokteran Neurosains Perhimpunan Dokter Spesialis Saraf Indonesia Vol 40 No 2 (2024): Vol 40 No 2 (2024): Volume 40, No 2 - Maret 2024
Publisher : PERDOSNI

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Abstract

Positive muscle phenomena arise due to various forms of spontaneous muscle hyperactivity originating from motor neurons or the muscle itself. The presence of this phenomenon can constringe the possible diagnosis to be more specific, so if presence it is necessary to be identified in patients with potential neuromuscular disease. However, the presence of positive muscle phenomena is often overlooked. This gap in our knowledge regarding definitions, clinical findings, electrodiagnostic findings, and pathophysiological mechanisms hampers effective diagnosis and treatment. In this article, we review the clinical characteristics approach to diagnosis of various positive muscle phenomena originating from the lower motor neuron (LMN) and muscle, including tetany, cramps, fasciculations, myokymia, neuromyotonia, rippling muscle, percussion induced rapid contractions (PIRCs), myoedema, and contractures. Keywords: fasciculation, muscle phenomena, hyperactivity, myotonia, rippling muscle
The Effectiveness of Plasmapheresis Compared to Intravenous Immunoglobulin in Guillain-Barre Syndrome Patients Mustika, Alyssa Putri; Hakim, Manfaluthy; Sari, Waode Satriana; Octaviana, Fitri; Budikayanti, Astri; Safri, Ahmad Yanuar; Wiratman, Winnugroho; Indrawati, Luh Ari; Fadli, Nurul; Harsono, Adrian Ridski; Savitri, Irma
Acta Neurologica Indonesia Vol. 2 No. 02 (2024): Acta Neurologica Indonesia
Publisher : Departemen Neurologi Fakultas Kedokteran Universitas Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.69868/ani.v2i02.24

Abstract

Introduction : Guillain-Barré syndrome (GBS) is the second most common cause of acute and subacute general paralysis. The management is symptom-adjusting, but plasmapheresis (plasma exchange/PE) and intravenous immunoglobulin immunotherapy (IVIG) can be administered to accelerate the return of neurological function. This study aim to determine PE's effectiveness compared to IVIG in GBS patients and the side effects or complications that may arise. Method : The literature study is carried out on four databases. Selection is carried out using inclusion and exclusion criteria. The articles were screened and extracted independently by two investigators. Results : The literature study obtained three systematic review studies. In the first study, shows the outcomes in the form of improved Hughes Score (OR 1.9; 95% CI 1.11-3.28) and mortality (OR 0.8; 95% CI 0.31-2.29) against IVIG. The second study, outcomes shown in the form of improved disability scores (WMD -0.02, p: 0.83), and secondary outcomes such as mortality or relapse (p >0.05, respectively). The third study showed that IVIG had higher efficacy (OR 1.6, p: 0.067, 95% CI 0.972-2.587), shorter duration of hospitalization, 38 days, compared to 49-day PE therapy (SMD -3.389, 95% CI -11.601-4.824; p: 0.419), however, had higher side effect (OR 0.8, p: 0.430, 95% CI 0.389-1.495). Conclusion : PE efficacy is generally lower than IVIG, as indicated by disability scores/motor ability scores in various studies, as well as the duration of hospitalization. The safety of therapy is assessed by the side effects that appear and appear-more-often in IVIG therapy rather than PE.
ATTRv MIMICKING CIDP: INSIGHTS FROM TWO GENETICALLY CONFIRMED PATIENTS IN A NATIONAL TOP REFERRAL HOSPITAL Indrawati, Luh Ari; Hadiweijaya, Antonia; Wiguna, Fikry Ichsan; Parindra, Cakra; Safri, Ahmad Yanuar; Wiratman, Winnugroho; Fadli, Nurul; Harsono, Adrian Ridski; Hakim, Manfaluthy; Octaviana, Fitri
Majalah Kedokteran Neurosains Perhimpunan Dokter Spesialis Saraf Indonesia Vol 42 No 1 (2025): Volume 42, No 1 - Desember 2025
Publisher : PERDOSNI

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52386/neurona.v42i1.803

Abstract

ATTRv is a treatable autosomal dominant hereditary devastating disease caused by pathogenic variants in TTR gene leading to amyloid deposition in peripheral nerves. TTR stabilizer or gene silencing drugs are able to reduce amyloid formation. It can mimic chronic inflammatory demyelinating polyneuropathy (CIDP) but does not respond to immunotherapy, highlighting the importance of accurate diagnosis. We present two Indonesian male patients initially misdiagnosed with CIDP. The first case developed progressive distal weakness, sensory loss, profound autonomic dysfunction including orthostatic hypotension, erectile dysfunction and significant weight loss. Nerve conduction studies revealed demyelinating sensory neuropathy with mixed motor involvement and autonomic testing showed absent SSR and abnormal HRV. The patient received supportive care, including fludrocortisone for orthostatic hypotension. The second case experienced distal sensory-motor neuropathy with additional features of erectile dysfunction, urinary and fecal incontinence and recurrent painless heel blisters. Nerve conduction studies showed axonal sensorimotor polyneuropathy, and autonomic testing along with SSEP confirmed widespread autonomic and sensory pathway involvement. Serum protein electrophoresis in both cases revealed elevated gamma globulin without monoclonal spikes. Whole exome sequencing in both cases revealed the same pathogenic TTR variant (c.148G>A, p.Val50Met), confirming the diagnosis of ATTRv. CIDP lacks specific biomarkers and can mimic various neuropathies. In this case, distal predominant weakness and profound autonomic dysfunction were red flags for alternative diagnosis, such as ATTRv. Progressive sensory-motor neuropathy, atypical CIDP with autonomic involvement and unexplained weight loss warrant suspicion of ATTRv. Differential diagnoses should include diabetic neuropathy, autoimmune nodopathy, MAG neuropathy and monoclonal gammopathy-associated neuropathies.
Co-Authors Angelita, Michelle Cancera Astri Budikayanti Endi Novianto Fadli, Nurul Fitri Octaviana Fitri, Eyleny Meisyah Hadiweijaya, Antonia Hakim, Manfaluthy Halim, P. Anthony Hamdali, Christie Harsono, Adrian Ridski Mustika, Alyssa Putri Parindra, Cakra Pranathania, Andravina Safri, Ahmad Yanuar Sari, Waode Satriana Savitri, Irma Wiguna, Fikry Ichsan Windy Keumala Budianti Wiratman, Winnugroho