Senarai Penerbitan
Terdapat sebilangan besar penyelidikan berkaitan autisme yang boleh dijumpai di Malaysia yang umumnya menumpukan pada ASD, gangguan pembelajaran, alat bantu komunikasi, terapi dan banyak lagi. Senarai penerbitan disediakan di bawah:
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2019 |
Prabhakar, S; Cheah, P S; Zhang, X; Zinter, M; Gianatasio, M; Hudry, E; Bronson, R T; Kwiatkowski, D J; Stemmer-Rachamimov, A; Maguire, C A; Sena-Esteves, M; Tannous, B A; Breakefield, X O Long-Term Therapeutic Efficacy of Intravenous AAV-Mediated Hamartin Replacement in Mouse Model of Tuberous Sclerosis Type 1 Artikel Jurnal Molecular Therapy - Methods and Clinical Development, 15 , hlm. 18-26, 2019, ISSN: 23290501, (dipetik oleh 2). Abstrak | Pautan | BibTeX | Tag: Adeno Associated Virus, Adeno Associated Virus Vector, Animal Experiment, Animal Model, Artikel, Beta Actin, Blood Brain Barrier, Berat badan, Body Weight Gain, Brain Nerve Cell, Brain Ventricle, Percambahan Sel, Complementary DNA, Kajian Terkawal, Cre Recombinase, Drug Efficacy, Perempuan, Gen, Gene Replacement Therapy, Hamartin, HEK293 Cell Line, Hydrocephalus, Immunohistochemistry, Inverted Terminal Repeat, Long Term Care, Lelaki, Motor Activity, Motor Performance, Tetikus, Bukan Manusia, Jurnal Keutamaan, Promoter Region, Fungsi Protein, Protein Phosphorylation, Quantitative Analysis, Subventricular Zone, Survival Time, Tuberous Sclerosis, Tuberous Sclerosis Type 1, Vascularization, Viral Gene Delivery System @artikel{Prabhakar201918, tajuk = {Long-Term Therapeutic Efficacy of Intravenous AAV-Mediated Hamartin Replacement in Mouse Model of Tuberous Sclerosis Type 1}, pengarang = {S Prabhakar and P S Cheah and X Zhang and M Zinter and M Gianatasio and E Hudry and R T Bronson and D J Kwiatkowski and A Stemmer-Rachamimov and C A Maguire and M Sena-Esteves and B A Tannous and X O Breakefield}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85070908794&doi=10.1016%2fj.omtm.2019.08.003&rakan kongsi = 40&md5=b169187dde0d3b05f8a9d5295a4ad8c4}, doi = {10.1016/j.omtm.2019.08.003}, terbitan = {23290501}, tahun = {2019}, tarikh = {2019-01-01}, jurnal = {Molecular Therapy - Methods and Clinical Development}, isi padu = {15}, halaman = {18-26}, penerbit = {Akhbar Sel}, abstrak = {Tuberous sclerosis complex (TSC) is a tumor suppressor syndrome caused by mutations in TSC1 or TSC2, encoding hamartin and tuberin, masing-masing. These proteins act as a complex that inhibits mammalian target of rapamycin (mTOR)-mediated cell growth and proliferation. Loss of either protein leads to overgrowth in many organs, including subependymal nodules, subependymal giant cell astrocytomas, and cortical tubers in the human brain. Neurological manifestations in TSC include intellectual disability, autisme, hydrocephalus, and epilepsy. In a stochastic mouse model of TSC1 brain lesions, complete loss of Tsc1 is achieved in homozygous Tsc1-floxed mice in a subpopulation of neural cells in the brain by intracerebroventricular (i.c.v.) injection at birth of an adeno-associated virus (AAV) vector encoding Cre recombinase. This results in median survival of 38 days and brain pathology, including subependymal lesions and enlargement of neuronal cells. Remarkably, when these mice were injected intravenously on day 21 with an AAV9 vector encoding hamartin, most survived at least up to 429 days in apparently healthy condition with marked reduction in brain pathology. Oleh itu, a single intravenous administration of an AAV vector encoding hamartin restored protein function in enough cells in the brain to extend lifespan in this TSC1 mouse model. © 2019}, nota = {dipetik oleh 2}, kata kunci = {Adeno Associated Virus, Adeno Associated Virus Vector, Animal Experiment, Animal Model, Artikel, Beta Actin, Blood Brain Barrier, Berat badan, Body Weight Gain, Brain Nerve Cell, Brain Ventricle, Percambahan Sel, Complementary DNA, Kajian Terkawal, Cre Recombinase, Drug Efficacy, Perempuan, Gen, Gene Replacement Therapy, Hamartin, HEK293 Cell Line, Hydrocephalus, Immunohistochemistry, Inverted Terminal Repeat, Long Term Care, Lelaki, Motor Activity, Motor Performance, Tetikus, Bukan Manusia, Jurnal Keutamaan, Promoter Region, Fungsi Protein, Protein Phosphorylation, Quantitative Analysis, Subventricular Zone, Survival Time, Tuberous Sclerosis, Tuberous Sclerosis Type 1, Vascularization, Viral Gene Delivery System}, pubstate = {diterbitkan}, tppubtype = {artikel} } Tuberous sclerosis complex (TSC) is a tumor suppressor syndrome caused by mutations in TSC1 or TSC2, encoding hamartin and tuberin, masing-masing. These proteins act as a complex that inhibits mammalian target of rapamycin (mTOR)-mediated cell growth and proliferation. Loss of either protein leads to overgrowth in many organs, including subependymal nodules, subependymal giant cell astrocytomas, and cortical tubers in the human brain. Neurological manifestations in TSC include intellectual disability, autisme, hydrocephalus, and epilepsy. In a stochastic mouse model of TSC1 brain lesions, complete loss of Tsc1 is achieved in homozygous Tsc1-floxed mice in a subpopulation of neural cells in the brain by intracerebroventricular (i.c.v.) injection at birth of an adeno-associated virus (AAV) vector encoding Cre recombinase. This results in median survival of 38 days and brain pathology, including subependymal lesions and enlargement of neuronal cells. Remarkably, when these mice were injected intravenously on day 21 with an AAV9 vector encoding hamartin, most survived at least up to 429 days in apparently healthy condition with marked reduction in brain pathology. Oleh itu, a single intravenous administration of an AAV vector encoding hamartin restored protein function in enough cells in the brain to extend lifespan in this TSC1 mouse model. © 2019 |
2012 |
Salih, M R M; Laut, M B; Hassali, M A A; Shafie, A A; Al-Lela, Wahai Q B; Abd, Ke dan; Ganesan, V M Characteristics of seizure frequency among Malaysian children diagnosed with structural-metabolic epilepsy Artikel Jurnal Journal of Neurosciences in Rural Practice, 3 (3), hlm. 244-250, 2012, ISSN: 09763147, (dipetik oleh 1). Abstrak | Pautan | BibTeX | Tag: Remaja, Anticonvulsive Agent, Artikel, Autisme, Benign Childhood Epilepsy, Brain Disease, Carbamazepine, Cerebral Palsy, Anak-anak, Chinese, Clonazepam, Analisis Kohort, Congenital Toxoplasmosis, Kajian Terkawal, Corpus Callosum Agenesis, Dandy Walker Syndrome, Degenerative Disease, Gangguan Perkembangan, Disorders of Mitochondrial Functions, Sindrom Down, Epilepsi, Etnik, Etiracetam, Perempuan, Focal Epilepsy, Happy Puppet Syndrome, Manusia, Hydrocephalus, Orang India, Kemerosotan Intelektual, Lamotrigine, Kajian Klinikal Utama, Malay, Lelaki, Medical Record, Microcephaly, Monotherapy, Kanak-kanak Prasekolah, Jurnal Keutamaan, Kajian Retrospektif, Budak sekolah, Seizure, Structural Metabolic Epilepsy, Tuberous Sclerosis, Valproic Acid, Wilson Disease @artikel{Salih2012244, tajuk = {Characteristics of seizure frequency among Malaysian children diagnosed with structural-metabolic epilepsy}, pengarang = {M R M Salih and M B Bahari and M A A Hassali and A A Shafie and O Q B Al-Lela and A Y Abd and V M Ganesan}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84870233746&doi=10.4103%2f0976-3147.102596&rakan kongsi = 40&md5=039bd22d6c38366ebfdd00a4254c20f0}, doi = {10.4103/0976-3147.102596}, terbitan = {09763147}, tahun = {2012}, tarikh = {2012-01-01}, jurnal = {Journal of Neurosciences in Rural Practice}, isi padu = {3}, nombor = {3}, halaman = {244-250}, abstrak = {Pengenalan: Seizure-free patients or substantial reduction in seizure frequency are the most important outcome measures in the management of epilepsy. The study aimed to evaluate the patterns of seizure frequency and its relationship with demographics, clinical characteristics, and outcomes. Materials and Methods: A retrospective cohort study was conducted at the Pediatric Neurology Clinic, Hospital Pulau Pinang. Over a period of 6 bulan, the required data were extracted from the medical records using a pre-designed data collection form. Keputusan: Seizure frequency showed no significant association with patient's demographics and clinical characteristic. Walau bagaimanapun, significant reduction in seizure frequency from the baseline to the last follow-up visit was only seen in certain subgroups of patients including Malays, perempuan, patients <4 years of age, patients with global developmental delay/intellectual disability, and patients with focal seizure. There was no significant association between seizure frequency and rate of adverse events. Polytherapy visits were associated with higher seizure frequency than monotherapy visits (27.97 ± 56.66, 10.94 ± 30.96 attack per month, respectively) (P < 0.001). There was a clear tendency to get antiepileptic drugs used at doses above the recommended range in polytherapy (8.4%) rather than in monotherapy (1.4%) visits (P < 0.001). A significant correlation was found between seizure frequency and number of visits per patient per year (r = 0.450, P < 0.001). Conclusion: Among children with structural-metabolic epilepsy, Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability and patients manifested with focal seizure are more responsive antiepileptic drug therapy than the other subgroups of patients.}, nota = {dipetik oleh 1}, kata kunci = {Remaja, Anticonvulsive Agent, Artikel, Autisme, Benign Childhood Epilepsy, Brain Disease, Carbamazepine, Cerebral Palsy, Anak-anak, Chinese, Clonazepam, Analisis Kohort, Congenital Toxoplasmosis, Kajian Terkawal, Corpus Callosum Agenesis, Dandy Walker Syndrome, Degenerative Disease, Gangguan Perkembangan, Disorders of Mitochondrial Functions, Sindrom Down, Epilepsi, Etnik, Etiracetam, Perempuan, Focal Epilepsy, Happy Puppet Syndrome, Manusia, Hydrocephalus, Orang India, Kemerosotan Intelektual, Lamotrigine, Kajian Klinikal Utama, Malay, Lelaki, Medical Record, Microcephaly, Monotherapy, Kanak-kanak Prasekolah, Jurnal Keutamaan, Kajian Retrospektif, Budak sekolah, Seizure, Structural Metabolic Epilepsy, Tuberous Sclerosis, Valproic Acid, Wilson Disease}, pubstate = {diterbitkan}, tppubtype = {artikel} } Pengenalan: Seizure-free patients or substantial reduction in seizure frequency are the most important outcome measures in the management of epilepsy. The study aimed to evaluate the patterns of seizure frequency and its relationship with demographics, clinical characteristics, and outcomes. Materials and Methods: A retrospective cohort study was conducted at the Pediatric Neurology Clinic, Hospital Pulau Pinang. Over a period of 6 bulan, the required data were extracted from the medical records using a pre-designed data collection form. Keputusan: Seizure frequency showed no significant association with patient's demographics and clinical characteristic. Walau bagaimanapun, significant reduction in seizure frequency from the baseline to the last follow-up visit was only seen in certain subgroups of patients including Malays, perempuan, patients <4 years of age, patients with global developmental delay/intellectual disability, and patients with focal seizure. There was no significant association between seizure frequency and rate of adverse events. Polytherapy visits were associated with higher seizure frequency than monotherapy visits (27.97 ± 56.66, 10.94 ± 30.96 attack per month, masing-masing) (P < 0.001). There was a clear tendency to get antiepileptic drugs used at doses above the recommended range in polytherapy (8.4%) rather than in monotherapy (1.4%) visits (P < 0.001). A significant correlation was found between seizure frequency and number of visits per patient per year (r = 0.450, P < 0.001). Kesimpulannya: Among children with structural-metabolic epilepsy, Malays, perempuan, patients <4 years of age, patients with global developmental delay/intellectual disability and patients manifested with focal seizure are more responsive antiepileptic drug therapy than the other subgroups of patients. |