Dessy Rakhmawati Emril
Department Of Neurology, Faculty Of Medicine, Universitas Syiah Kuala, Banda Aceh

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SCN1A exon 26 variants in epilepsy and migraine patients Nova Dian Lestari; Endang Mutiawati; Ahmad Hamim Sadewa; Hasan Sjahrir; . Syahrul; Dessy Rakhmawati Emril; . Harapan
Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Vol 50, No 4 (2018)
Publisher : Journal of the Medical Sciences (Berkala Ilmu Kedokteran)

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (331.556 KB) | DOI: 10.19106/JMedScie/005004201806

Abstract

Epilepsy and migraine are common neurological diseases in many populations. Mutation of the voltage gated natrium channel Nav1.1 (SCN1A) are important causes of different genetic epilepsies and can also cause familial hemiplegic migraine (FHM-III). This study aimed to identify SCN1A gene variation in patients with epilepsy and common migraine. Gene variation analysis of exon 26 of the SCN1A gene was carried out in 33 patients with epilepsy, 33 patients with migraine and 30 control individuals from Neurology Polyclinic at Dr. Zainoel Abidin General Hospital, Banda Aceh. The PCR and direct sequencing methods were performed in this study. SCN1A gene variations were identified in two epilepsy patients. These gene variations located at exon 26 were four silent mutations in patient E27 at position A4440T (Leu1480Leu), T4443C (Leu1481Leu), A5046G (Leu1682Leu) and C5121T (Asp1707Asp). One silent mutation in patient E30 at position G5505A (Glu1835Glu). None of these gene variations were identified in controls and patients with common migraine in this study. This study has identified 5 genetic variations of SCN1A in patients with epilepsy but not in common migraine. The mechanism and relationship between these variants and epilepsy need to be clarified.
POLA PENATALAKSANAAN NYERI NEUROPATIK DI PUSAT PELAYANAN KESEHATAN PRIMER DI KOTA BANDA ACEH: THE PATTERN OF NEUROPATHIC PAIN MANAGEMENT AT PRIMARY HEALTH CARE IN BANDA ACEH Dessy Rakhmawati Emril; Alyani Akramah Basar; Desiana Desiana; Hendra Kurniawan
Jurnal Sinaps Vol. 1 No. 3 (2018): volume 1 Nomor 3, September 2018
Publisher : Neurologi Manado

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ABSTRAK Nyeri neuropatik adalah nyeri yang disebabkan karena adanya lesi atau gangguan primer pada susunan saraf. Nyeri neuropatik ditemui pada kasus-kasus seperti neuropatik DM, trigeminal neuralgia, post herpetic neuralgia, pasca stroke, pasca trauma, neuropatik HIV, radikulopati, phantom limb pain dan lain sebagainya. Golongan obat anti konvulsan dan anti depressan dapat digunakan sebagai pengobatan lini pertama dan pengobatan lini kedua diterapi dengan obat golongan anagesik opioid seperti morfin atau tramadol.Tujuan dari penelitian ini untuk mengetahui pola penatalaksanaan nyeri neuropatik yang dilakukan oleh dokter umum di pusat pelayanan kesehatan primer di Kota Banda Aceh. Penelitian ini merupakan penelitian deskriptif dengan pendekatan cross sectional survey dan telah dilakukan pada oktober – november 2014 dengan jumlah responden 72 dokter praktik umum. Hasil penelitian didapatkan seluruh dokter pernah menangani kasus nyeri neuropatik, dan 87,5% dokter pernah menangani kasus nyeri neuropatik DM, dan kasus yang paling sedikit pernah ditangani adalah neuropatik HIV. Golongan obat yang paling banyak dipilih yaitu 91,7% memilih golongan NSAID dan hanya 51,4% dokter pernah menggunakan golongan anti konvulsan sebagai terapi nyeri neuropatik. Sebanyak 40,3% dokter pernah menggunakan golongan analgesik opioid sebagai terapi nyeri dan hanya 4,2% responden yang sering menggunakannya di pusat layanan kesehatan primer di Kota Banda Aceh. Kata Kunci : Nyeri neuropatik, dokter layanan primer, terapi nyeri neuropatik ABSTRACT Neuropathic pain is pain that is caused by a lesion or a primary disorder of the nervous system. Neuropathic pain encountered in cases such as neuropathic DM, trigeminal neuralgia, post-herpetic neuralgia, post-stroke, post-traumatic, neuropathic HIV, radiculopathy, phantom limb pain, and so forth. Drug classes anticonvulsants and anti-depressants can be used as first-line treatment and second-line treatment were treated with drugs known as opioids such as morphine anagesik or tramadol. The purpose of this study was to determine the pattern of neuropathic pain management performed by general practitioners in primary health care centers in Banda Aceh. This research is a descriptive cross sectional survey has been done in October - November 2014, with the number of respondents 72 general practitioners. The results showed all doctors had handled the case of neuropathic pain, and 87.5% of physicians had one case of DM neuropathic pain, and the fewest cases ever handled was neuropathic HIV. Classes of drugs most widely chosen that 91.7% chose NSAID group and only 51.4% of physicians have used class of anticonvulsants in the treatment of neuropathic pain. As pain therapy obtained 40.3% of physicians have used class of opioid analgesics and only 4.2% of respondents who are often use in primary health care centers in Banda Aceh. Keywords : Neurpathic pain, primary care physician, treatment of neuropathic pain
NEUROLOGICAL DISORDERS IN GLAUCOMA Siti Hajar; Dessy Rakhmawati Emril; Firjatullah; Rizkidawati
Jurnal Sinaps Vol. 4 No. 1 (2021): Volume 4 Nomor 1, Februari 2021
Publisher : Neurologi Manado

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Abstract

Glaucoma is a disease of the visual system that causes permanent blindness. Glaucoma is characterized by degeneration of the trabecular meshwork (TM) (the filter responsible for drainage of aqueous humor from the anterior chamber of the eye), which increases intraocular pressure (IOP). Visual manifestations are first peripheral and then central. Current treatment is primarily aimed at lowering IOP. Currently, IOP is considered only one of the risk factors, and even with a normal IOP, glaucoma can occur. Glaucoma is a multifactorial optic neuropathy characterized by progressive destruction of retinal ganglion cells and their axons characterized by progressive structural loss of retinal ganglion cells (RGCs) and loss of vision. Muller cells play a key role in the maintenance of retinal ganglion cell bodies in the retina. Ganglion cell death in glaucoma is mainly caused by apoptosis which is influenced by various factors that have been identified such as genetic, neurotrophic, autoimmune, and excitotoxic.