2020 |
Eow, S Y; Gan, W Y; Lim, P Y; Awang, H; Shariff, Mohd Z Faktor-faktor yang berkaitan dengan keparahan autisme di kalangan kanak-kanak Malaysia dengan Autism Spectrum Disorder Artikel Jurnal Penyelidikan Ketidakupayaan Pembangunan, 100 , 2020, ISSN: 08914222, (dipetik oleh 0). Abstrak | Pautan | BibTeX | Tag: Artikel, Autisme, Berat badan, Anak-anak, Kajian Lintas Bahagian, Demografi, Persatuan Penyakit, Keterukan Penyakit, Pekerjaan, Perempuan, Manusia, Gaya hidup, Kajian Klinikal Utama, Malaysia, Orang Malaysia, Lelaki, Ibu bapa, Kanak-kanak Prasekolah, Budak sekolah, Status sosial @artikel{Eow2020, tajuk = {Faktor-faktor yang berkaitan dengan keparahan autisme di kalangan kanak-kanak Malaysia dengan Autism Spectrum Disorder}, pengarang = {S Y Eow dan W Y Gan dan P Y Lim dan H Awang dan Z Mohd Shariff}, url = {https://www.scopus.com/inward/record.uri?eid = 2-s2.0-85081212440&doi = 10.1016% 2fj.ridd.2020.103632&rakan kongsi = 40&md5 = a2814a66b9d649278ea7f764ed7e4125}, doi = {10.1016/j.ridd.2020.103632}, terbitan = {08914222}, tahun = {2020}, tarikh = {2020-01-01}, jurnal = {Penyelidikan Ketidakupayaan Pembangunan}, isi padu = {100}, penerbit = {Elsevier Inc.}, abstrak = {Latar belakang: Kanak-kanak dengan Gangguan Spektrum Autisme (ASD) tahap keparahan gejala yang berlainan boleh menunjukkan pelbagai tingkah laku dan ciri. Terdapat kajian berkaitan pemakanan terhad pada kanak-kanak dengan ASD dengan tahap keparahan yang berbeza di Malaysia. Matlamat: Kajian keratan rentas ini bertujuan untuk mengetahui perkaitan antara faktor sosiodemografi, faktor ibu bapa, dan faktor gaya hidup dengan keparahan autisme pada kanak-kanak dengan ASD. Kaedah dan prosedur: Sejumlah 224 kanak-kanak dengan ASD dimasukkan dalam kajian ini. Ibu mereka melengkapkan borang soal selidik mengenai ciri sosiodemografi, keterukan autisme, gaya keibubapaan, amalan memberi makan ibu bapa, tekanan keibubapaan, tabiat tidur anak dan tingkah laku makan. Hasil dan hasil: Setinggi 78.1 % kanak-kanak dengan ASD menunjukkan tahap keparahan autisme yang tinggi. Regresi linear berganda menunjukkan bahawa status pekerjaan bapa (B = 6.970, 95 % CI = 3.172, 10.768, hlm < 0.001) and perceived child weight (B = 3.338, 95 % CI = 1.350, 5.327}, nota = {dipetik oleh 0}, kata kunci = {Artikel, Autisme, Berat badan, Anak-anak, Kajian Lintas Bahagian, Demografi, Persatuan Penyakit, Keterukan Penyakit, Pekerjaan, Perempuan, Manusia, Gaya hidup, Kajian Klinikal Utama, Malaysia, Orang Malaysia, Lelaki, Ibu bapa, Kanak-kanak Prasekolah, Budak sekolah, Status sosial}, pubstate = {diterbitkan}, tppubtype = {artikel} } Latar belakang: Kanak-kanak dengan Gangguan Spektrum Autisme (ASD) tahap keparahan gejala yang berlainan boleh menunjukkan pelbagai tingkah laku dan ciri. Terdapat kajian berkaitan pemakanan terhad pada kanak-kanak dengan ASD dengan tahap keparahan yang berbeza di Malaysia. Matlamat: Kajian keratan rentas ini bertujuan untuk mengetahui perkaitan antara faktor sosiodemografi, faktor ibu bapa, dan faktor gaya hidup dengan keparahan autisme pada kanak-kanak dengan ASD. Kaedah dan prosedur: Sejumlah 224 kanak-kanak dengan ASD dimasukkan dalam kajian ini. Ibu mereka melengkapkan borang soal selidik mengenai ciri sosiodemografi, keterukan autisme, gaya keibubapaan, amalan memberi makan ibu bapa, tekanan keibubapaan, tabiat tidur anak dan tingkah laku makan. Hasil dan hasil: Setinggi 78.1 % kanak-kanak dengan ASD menunjukkan tahap keparahan autisme yang tinggi. Regresi linear berganda menunjukkan bahawa status pekerjaan bapa (B = 6.970, 95 % CI = 3.172, 10.768, hlm < 0.001) dan berat badan anak yang dirasakan (B = 3.338, 95 % CI = 1.350, 5.327 |
2019 |
Pichitpunpong, C; Thongkorn, S; Kanlayaprasit, S; Yuwattana, W; Plaingam, W; Sangsuthum, S; Aizat, W M; Baharum, S N; Tencomnao, T; Hu, V W; Sarachana, T PLoS SATU, 14 (3), 2019, ISSN: 19326203, (dipetik oleh 4). Abstrak | Pautan | BibTeX | Tag: Artikel, Autisme, Gangguan Spektrum Autisme, Mengikat Protein, Penanda Biologi, Penanda bio, Talian Sel, Kajian Terkawal, Gangguan Perkembangan, Gangguan Bahasa Perkembangan, Perencat Pengikat Diazepam, Protein Perencat Pengikat Diazepam, Keterukan Penyakit, Perempuan, Analisis Genetik, Manusia, Sel Manusia, Keradangan, Gangguan Perkembangan Bahasa, Ketidakupayaan Bahasa, Kromatografi Cecair-Spektrometri Jisim, Sel Limfoblastoid, Kajian Klinikal Utama, Lelaki, Metabolisme, Fenotip, Analisis Protein, Ekspresi Protein, Fungsi Protein, Proteome, Proteomik, Peraturan Transkripsi, Transkriptom, Dadah yang tidak dikelaskan, Blotting Barat @artikel{Pichitpunpong2019, tajuk = {Analisis subkumpulan fenotip dan multi-omik mendedahkan perencat pengikat diazepam yang berkurangan (DBI) tahap protein dalam gangguan spektrum autisme dengan gangguan bahasa yang teruk}, pengarang = {C Pichitpunpong dan S Thongkorn dan S Kanlayaprasit dan W Yuwattana dan W Plaingam dan S Sangsuthum dan W M Aizat dan SN Baharum dan T Tencomnao dan V W Hu dan T Sarachana}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85063617126&doi=10.1371/journal.pone.0214198&rakan kongsi = 40&md5=0a4c25481edee56984a59de94fedc414}, doi = {10.1371/jurnal.pone.0214198}, terbitan = {19326203}, tahun = {2019}, tarikh = {2019-01-01}, jurnal = {PLoS SATU}, isi padu = {14}, nombor = {3}, penerbit = {Perpustakaan Awam Sains}, abstrak = {Latar Belakang Mekanisme yang mendasari gangguan spektrum autisme (ASD) tetap tidak jelas, dan biomarker klinikal belum tersedia untuk ASD. Perbezaan dalam protein disregulasi dalam ASD telah menunjukkan sedikit kebolehulangan, yang sebahagiannya disebabkan oleh heterogeniti ASD. Kajian terkini telah menunjukkan bahawa subkumpulan kes ASD berdasarkan fenotip klinikal berguna untuk mengenal pasti gen calon yang didisregulasi dalam subkumpulan ASD. Walau bagaimanapun, strategi ini tidak digunakan dalam analisis pemprofilan protein untuk mengenal pasti protein biomarker ASD untuk subkumpulan tertentu. Kaedah Oleh itu, kami menjalankan analisis kelompok Temuduga Diagnostik Autisme-Disemak (ADI-R) markah daripada 85 individu yang mempunyai ASD untuk meramalkan subkumpulan dan kemudiannya mengenal pasti gen disregulasi dengan menganalisis semula profil transkrip individu yang mempunyai ASD dan individu yang tidak terjejas. Profil protein garisan sel limfoblastoid daripada individu ini dilakukan melalui elektroforesis 2D-gel, dan kemudian spektrometri jisim. Protein yang terganggu telah dikenal pasti dan dibandingkan dengan transkrip yang tidak dikawal dan melaporkan protein yang tidak dikawal daripada kajian protein sebelumnya. Fungsi biologi telah diramalkan menggunakan Analisis Laluan Kecerdikan (IPA) program. Protein terpilih juga dianalisis oleh Western blotting. Keputusan Analisis kelompok data ADI-R mendedahkan empat subkumpulan ASD, termasuk ASD dengan kecacatan bahasa yang teruk, dan pemprofilan transkriptom mengenal pasti gen tidak terkawal dalam setiap subkumpulan. Pemeriksaan melalui analisis proteome didedahkan 82 protein yang diubah dalam subkumpulan ASD dengan gangguan bahasa yang teruk. Lapan belas daripada protein ini dikenal pasti lagi oleh nano-LC-MS/MS. Antara protein ini, empat belas telah diramalkan oleh IPA dikaitkan dengan fungsi neurologi dan keradangan. Antara protein ini, perencat pengikat diazepam (DBI) protein telah disahkan oleh analisis Western blot untuk dinyatakan pada tahap penurunan yang ketara dalam subkumpulan ASD dengan gangguan bahasa yang teruk, dan tahap ekspresi DBI dikaitkan dengan markah beberapa item ADI-R. Kesimpulan Dengan subkumpulan individu dengan ASD berdasarkan fenotip klinikal, dan kemudian melakukan analisis transkriptom-proteome bersepadu, kami mengenal pasti DBI sebagai protein calon baru untuk ASD dengan gangguan bahasa yang teruk. Mekanisme protein ini dan potensi penggunaannya sebagai biomarker ASD memerlukan kajian lanjut. © 2019 Pihitpunpong et al. Ini ialah artikel akses terbuka yang diedarkan di bawah syarat Lesen Atribusi Creative Commons, yang membenarkan penggunaan tanpa had, pengedaran, dan pembiakan dalam mana-mana medium, dengan syarat penulis dan sumber asal dikreditkan.}, nota = {dipetik oleh 4}, kata kunci = {Artikel, Autisme, Gangguan Spektrum Autisme, Mengikat Protein, Penanda Biologi, Penanda bio, Talian Sel, Kajian Terkawal, Gangguan Perkembangan, Gangguan Bahasa Perkembangan, Perencat Pengikat Diazepam, Protein Perencat Pengikat Diazepam, Keterukan Penyakit, Perempuan, Analisis Genetik, Manusia, Sel Manusia, Keradangan, Gangguan Perkembangan Bahasa, Ketidakupayaan Bahasa, Kromatografi Cecair-Spektrometri Jisim, Sel Limfoblastoid, Kajian Klinikal Utama, Lelaki, Metabolisme, Fenotip, Analisis Protein, Ekspresi Protein, Fungsi Protein, Proteome, Proteomik, Peraturan Transkripsi, Transkriptom, Dadah yang tidak dikelaskan, Blotting Barat}, pubstate = {diterbitkan}, tppubtype = {artikel} } Latar Belakang Mekanisme yang mendasari gangguan spektrum autisme (ASD) tetap tidak jelas, dan biomarker klinikal belum tersedia untuk ASD. Perbezaan dalam protein disregulasi dalam ASD telah menunjukkan sedikit kebolehulangan, yang sebahagiannya disebabkan oleh heterogeniti ASD. Kajian terkini telah menunjukkan bahawa subkumpulan kes ASD berdasarkan fenotip klinikal berguna untuk mengenal pasti gen calon yang didisregulasi dalam subkumpulan ASD. Walau bagaimanapun, strategi ini tidak digunakan dalam analisis pemprofilan protein untuk mengenal pasti protein biomarker ASD untuk subkumpulan tertentu. Kaedah Oleh itu, kami menjalankan analisis kelompok Temuduga Diagnostik Autisme-Disemak (ADI-R) markah daripada 85 individu yang mempunyai ASD untuk meramalkan subkumpulan dan kemudiannya mengenal pasti gen disregulasi dengan menganalisis semula profil transkrip individu yang mempunyai ASD dan individu yang tidak terjejas. Profil protein garisan sel limfoblastoid daripada individu ini dilakukan melalui elektroforesis 2D-gel, dan kemudian spektrometri jisim. Protein yang terganggu telah dikenal pasti dan dibandingkan dengan transkrip yang tidak dikawal dan melaporkan protein yang tidak dikawal daripada kajian protein sebelumnya. Fungsi biologi telah diramalkan menggunakan Analisis Laluan Kecerdikan (IPA) program. Protein terpilih juga dianalisis oleh Western blotting. Keputusan Analisis kelompok data ADI-R mendedahkan empat subkumpulan ASD, termasuk ASD dengan kecacatan bahasa yang teruk, dan pemprofilan transkriptom mengenal pasti gen tidak terkawal dalam setiap subkumpulan. Pemeriksaan melalui analisis proteome didedahkan 82 protein yang diubah dalam subkumpulan ASD dengan gangguan bahasa yang teruk. Lapan belas daripada protein ini dikenal pasti lagi oleh nano-LC-MS/MS. Antara protein ini, empat belas telah diramalkan oleh IPA dikaitkan dengan fungsi neurologi dan keradangan. Antara protein ini, perencat pengikat diazepam (DBI) protein telah disahkan oleh analisis Western blot untuk dinyatakan pada tahap penurunan yang ketara dalam subkumpulan ASD dengan gangguan bahasa yang teruk, dan tahap ekspresi DBI dikaitkan dengan markah beberapa item ADI-R. Kesimpulan Dengan subkumpulan individu dengan ASD berdasarkan fenotip klinikal, dan kemudian melakukan analisis transkriptom-proteome bersepadu, kami mengenal pasti DBI sebagai protein calon baru untuk ASD dengan gangguan bahasa yang teruk. Mekanisme protein ini dan potensi penggunaannya sebagai biomarker ASD memerlukan kajian lanjut. © 2019 Pihitpunpong et al. Ini ialah artikel akses terbuka yang diedarkan di bawah syarat Lesen Atribusi Creative Commons, yang membenarkan penggunaan tanpa had, pengedaran, dan pembiakan dalam mana-mana medium, dengan syarat penulis dan sumber asal dikreditkan. |
2016 |
Bhagat, V; Mat, Khairi Che H J; Husain, R; Haque, M International Journal of Pharmaceutical Sciences Review and Research, 36 (1), hlm. 54-62, 2016, ISSN: 0976044X, (dipetik oleh 0). Abstrak | Pautan | BibTeX | Tag: Autisme, Anak-anak, Keterukan Penyakit, Emosi, Emotionality, Amalan Berasaskan Bukti, Manusia, Perhubungan Manusia, Intervention Study, Negative Emotionality, Parent Counseling, Sikap Ibu Bapa, Parenting Education, Personality Assessment, Kaji semula, Status sosial, Tekanan @artikel{Bhagat201654, tajuk = {Parent’s negative emotionality impacting parenting and involvement in the intervention of their child with autism spectrum disorder: A review proposed the new model for intervention}, pengarang = {V Bhagat and H J Khairi Che Mat and R Husain and M Haque}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84957597820&rakan kongsi = 40&md5=40212e84a1b6be6ade2617d5c9df29a9}, terbitan = {0976044X}, tahun = {2016}, tarikh = {2016-01-01}, jurnal = {International Journal of Pharmaceutical Sciences Review and Research}, isi padu = {36}, nombor = {1}, halaman = {54-62}, penerbit = {Global Research Online}, abstrak = {Raising a child with an autism spectrum disorder (ASD) is a challenging for their parents. Child’s life with this disease is severely affected. Sesungguhnya, it impacts not only the child, but also parents and siblings, causing disturbances in the family. The experience of parents with an autism spectrum disorder can be distressing; they have a critical need to cope with complex situations in their lives. The presence of pervasive and severe deficits in children with ASD increases the adjusting demands of parents in their life situations, this in turn distress them deliberately and further restrict them in the ways of child rearing and to give the best of themselves. These parents are found with negative emotionality in their personality component. They end up being shattered in their interpersonal relationship and family life. Sesungguhnya, their negative emotions disturb their focus on the treatment of their ASD child. Oleh itu, the management of ASD child incapacitates their parents to bring out the best. Oleh itu, there is a need for intervention of ASD with emphasis on negative emotions of these parents and affecting the parental efficacy. Walau bagaimanapun, it must also be kept in mind that the improvement in the diagnosed ASD child, especially as the time and expense spent on intervention can be even more detrimental to the parents, especially with their emotional component of their personality. This proposed a new model of intervention incorporating assessment and management of parental emotionality as a part of the intervention. Further aiming at integrating this model into the current regulated system of intervention and can be a source for directing the alternative platform for further research in this regard. © 2016, Global Research Online. Hak cipta terpelihara.}, nota = {dipetik oleh 0}, kata kunci = {Autisme, Anak-anak, Keterukan Penyakit, Emosi, Emotionality, Amalan Berasaskan Bukti, Manusia, Perhubungan Manusia, Intervention Study, Negative Emotionality, Parent Counseling, Sikap Ibu Bapa, Parenting Education, Personality Assessment, Kaji semula, Status sosial, Tekanan}, pubstate = {diterbitkan}, tppubtype = {artikel} } Raising a child with an autism spectrum disorder (ASD) is a challenging for their parents. Child’s life with this disease is severely affected. Sesungguhnya, it impacts not only the child, but also parents and siblings, causing disturbances in the family. The experience of parents with an autism spectrum disorder can be distressing; they have a critical need to cope with complex situations in their lives. The presence of pervasive and severe deficits in children with ASD increases the adjusting demands of parents in their life situations, this in turn distress them deliberately and further restrict them in the ways of child rearing and to give the best of themselves. These parents are found with negative emotionality in their personality component. They end up being shattered in their interpersonal relationship and family life. Sesungguhnya, their negative emotions disturb their focus on the treatment of their ASD child. Oleh itu, the management of ASD child incapacitates their parents to bring out the best. Oleh itu, there is a need for intervention of ASD with emphasis on negative emotions of these parents and affecting the parental efficacy. Walau bagaimanapun, it must also be kept in mind that the improvement in the diagnosed ASD child, especially as the time and expense spent on intervention can be even more detrimental to the parents, especially with their emotional component of their personality. This proposed a new model of intervention incorporating assessment and management of parental emotionality as a part of the intervention. Further aiming at integrating this model into the current regulated system of intervention and can be a source for directing the alternative platform for further research in this regard. © 2016, Global Research Online. Hak cipta terpelihara. |
2015 |
Alwi, N; Harun, D; Leonard, J H Clinical application of sensory integration therapy for children with autism Artikel Jurnal Egyptian Journal of Medical Human Genetics, 16 (4), hlm. 393-394, 2015, ISSN: 11108630, (dipetik oleh 1). Pautan | BibTeX | Tag: Autisme, Keterukan Penyakit, Groups by Age, Manusia, Surat, Motor Performance, Penilaian Hasil, Sensorimotor Integration, Terapi, Therapy Effect, Treatment Indication, Treatment Response @artikel{Alwi2015393, tajuk = {Clinical application of sensory integration therapy for children with autism}, pengarang = {N Alwi and D Harun and J H Leonard}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84940898525&doi=10.1016%2fj.ejmhg.2015.05.009&rakan kongsi = 40&md5=5548f0db22520a480f09da9aaf4c872e}, doi = {10.1016/j.ejmhg.2015.05.009}, terbitan = {11108630}, tahun = {2015}, tarikh = {2015-01-01}, jurnal = {Egyptian Journal of Medical Human Genetics}, isi padu = {16}, nombor = {4}, halaman = {393-394}, penerbit = {Egyptian Society of Human Genetics}, nota = {dipetik oleh 1}, kata kunci = {Autisme, Keterukan Penyakit, Groups by Age, Manusia, Surat, Motor Performance, Penilaian Hasil, Sensorimotor Integration, Terapi, Therapy Effect, Treatment Indication, Treatment Response}, pubstate = {diterbitkan}, tppubtype = {artikel} } |
Bhagat, V; Simbak, Bin N; Haque, M Journal of Young Pharmacists, 7 (4), hlm. 403-414, 2015, ISSN: 09751483, (dipetik oleh 0). Abstrak | Pautan | BibTeX | Tag: Autisme, Tingkah Laku Menghadapi, Membuat keputusan, Keterukan Penyakit, Economic Aspect, Emosi, Emotionality, Experience, Manusia, Perhubungan Manusia, Intervention Study, Sikap Ibu Bapa, Tekanan Ibu Bapa, Jurnal Keutamaan, Psychological Well Being, Kaji semula, Kepuasan hati, Kelakuan Sosial, Perancangan strategik @artikel{Bhagat2015403, tajuk = {The peripheral focus on the psychological parameters of parents of autistic children in the intervention methods: A review and recommending the strategy, focusing psychological parameters of parents of autistic children in intervention methods}, pengarang = {V Bhagat and N Bin Simbak and M Haque}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84959853109&doi=10.5530%2fjyp.2015.4s.1&rakan kongsi = 40&md5=ed5b5faede6650d1249a902d7201ed43}, doi = {10.5530/jyp.2015.4s.1}, terbitan = {09751483}, tahun = {2015}, tarikh = {2015-01-01}, jurnal = {Journal of Young Pharmacists}, isi padu = {7}, nombor = {4}, halaman = {403-414}, penerbit = {EManuscript Services}, abstrak = {The experience of parents with an Autism Spectrum Disorders (ASD) can be devastating. Parents and families have to cope with the compound, demanding situation in their life. The presence of pervasive and severe deficits in children with ASD increases the adjusting demands of parent's in their life situations. Those coping with life complexity with the parents of ASD nudge them into stress later into distress slowly incapacitates them that of their efficiency to deal with this situation. These parents are found with disturbances in their psychological parameters such as social, sexual, economic, and emotional. Perhaps this shatters them from their interpersonal relationship and family life. Sesungguhnya, these aspects of parental distress stand lower in position, and the focus goes with the treatment of ASD. Oleh itu, the management of ASD by these parents to their deficit child capacitating to reach their fullest abilities remains questionable. Oleh itu, there is a need for intervention of autistic children with a peripheral focus on psychological parameters of parents of ASD. This review study focuses on division of attention required for the treatment of ASD towards the child with autism and the parents who manage them.}, nota = {dipetik oleh 0}, kata kunci = {Autisme, Tingkah Laku Menghadapi, Membuat keputusan, Keterukan Penyakit, Economic Aspect, Emosi, Emotionality, Experience, Manusia, Perhubungan Manusia, Intervention Study, Sikap Ibu Bapa, Tekanan Ibu Bapa, Jurnal Keutamaan, Psychological Well Being, Kaji semula, Kepuasan hati, Kelakuan Sosial, Perancangan strategik}, pubstate = {diterbitkan}, tppubtype = {artikel} } The experience of parents with an Autism Spectrum Disorders (ASD) can be devastating. Parents and families have to cope with the compound, demanding situation in their life. The presence of pervasive and severe deficits in children with ASD increases the adjusting demands of parent's in their life situations. Those coping with life complexity with the parents of ASD nudge them into stress later into distress slowly incapacitates them that of their efficiency to deal with this situation. These parents are found with disturbances in their psychological parameters such as social, sexual, economic, and emotional. Perhaps this shatters them from their interpersonal relationship and family life. Sesungguhnya, these aspects of parental distress stand lower in position, and the focus goes with the treatment of ASD. Oleh itu, the management of ASD by these parents to their deficit child capacitating to reach their fullest abilities remains questionable. Oleh itu, there is a need for intervention of autistic children with a peripheral focus on psychological parameters of parents of ASD. This review study focuses on division of attention required for the treatment of ASD towards the child with autism and the parents who manage them. |
2014 |
Chen, B C; Rawi, Mohd R; Meinsma, R; Meijer, J; Hennekam, R C M; Kuilenburg, Van A B P Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings Artikel Jurnal Molecular Syndromology, 5 (6), hlm. 299-303, 2014, ISSN: 16618769, (dipetik oleh 4). Abstrak | Pautan | BibTeX | Tag: Alanine, Artikel, Asymptomatic Disease, Autisme, Autosomal Recessive Disorder, Laporan kes, Cerebellum Atrophy, Anak-anak, Creatinine, Dihydropyrimidine Dehydrogenase, Dihydropyrimidine Dehydrogenase Deficiency, Keterukan Penyakit, DPYD Gene, Eye Malformation, Perempuan, Gen, Gene Mutation, Homozygosity, Manusia, Kemerosotan Intelektual, Orang Malaysia, Lelaki, Microcephaly, Muscle Hypotonia, Nuclear Magnetic Resonance Imaging, Kanak-kanak Prasekolah, Pyrimidine, Pyrimidine Metabolism, Budak sekolah, Seizure, Sequence Analysis, Sibling, Threonine, Thymine, Uracil @artikel{Chen2014299, tajuk = {Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings}, pengarang = {B C Chen and R Mohd Rawi and R Meinsma and J Meijer and R C M Hennekam and A B P Van Kuilenburg}, url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84919783242&doi=10.1159%2f000366074&rakan kongsi = 40&md5=1ebfb9aedb7cb64e3423811b41b6aa7c}, doi = {10.1159/000366074}, terbitan = {16618769}, tahun = {2014}, tarikh = {2014-01-01}, jurnal = {Molecular Syndromology}, isi padu = {5}, nombor = {6}, halaman = {299-303}, penerbit = {S. Karger AG}, abstrak = {Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine metabolism. Deficiency of this enzyme leads to an accumulation of thymine and uracil and a deficiency of metabolites distal to the catabolic enzyme. The disorder presents with a wide clinical spectrum, ranging from asymptomatic to severe neurological manifestations, termasuk kecacatan intelektual, seizures, microcephaly, autistic behavior, and eye abnormalities. Di sini, we report on an 11-year-old Malaysian girl and her 6-year-old brother with DPD deficiency who presented with intellectual disability, microcephaly, and hypotonia. Brain MRI scans showed generalized cerebral and cerebellar atrophy and callosal body dysgenesis in the boy. Urine analysis showed strongly elevated levels of uracil in the girl and boy (571 dan 578 mmol/mol creatinine, masing-masing) and thymine (425 dan 427 mmol/mol creatinine, masing-masing). Sequence analysis of the DPYD gene showed that both siblings were homozygous for the mutation c.1651G>A (pAla551Thr). © 2014 S. Karger AG, Basel.}, nota = {dipetik oleh 4}, kata kunci = {Alanine, Artikel, Asymptomatic Disease, Autisme, Autosomal Recessive Disorder, Laporan kes, Cerebellum Atrophy, Anak-anak, Creatinine, Dihydropyrimidine Dehydrogenase, Dihydropyrimidine Dehydrogenase Deficiency, Keterukan Penyakit, DPYD Gene, Eye Malformation, Perempuan, Gen, Gene Mutation, Homozygosity, Manusia, Kemerosotan Intelektual, Orang Malaysia, Lelaki, Microcephaly, Muscle Hypotonia, Nuclear Magnetic Resonance Imaging, Kanak-kanak Prasekolah, Pyrimidine, Pyrimidine Metabolism, Budak sekolah, Seizure, Sequence Analysis, Sibling, Threonine, Thymine, Uracil}, pubstate = {diterbitkan}, tppubtype = {artikel} } Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine metabolism. Deficiency of this enzyme leads to an accumulation of thymine and uracil and a deficiency of metabolites distal to the catabolic enzyme. The disorder presents with a wide clinical spectrum, ranging from asymptomatic to severe neurological manifestations, termasuk kecacatan intelektual, seizures, microcephaly, autistic behavior, and eye abnormalities. Di sini, we report on an 11-year-old Malaysian girl and her 6-year-old brother with DPD deficiency who presented with intellectual disability, microcephaly, and hypotonia. Brain MRI scans showed generalized cerebral and cerebellar atrophy and callosal body dysgenesis in the boy. Urine analysis showed strongly elevated levels of uracil in the girl and boy (571 dan 578 mmol/mol creatinine, masing-masing) and thymine (425 dan 427 mmol/mol creatinine, masing-masing). Sequence analysis of the DPYD gene showed that both siblings were homozygous for the mutation c.1651G>A (pAla551Thr). © 2014 S. Karger AG, Basel. |
2020 |
Faktor-faktor yang berkaitan dengan keparahan autisme di kalangan kanak-kanak Malaysia dengan Autism Spectrum Disorder Artikel Jurnal Penyelidikan Ketidakupayaan Pembangunan, 100 , 2020, ISSN: 08914222, (dipetik oleh 0). |
2019 |
PLoS SATU, 14 (3), 2019, ISSN: 19326203, (dipetik oleh 4). |
2016 |
International Journal of Pharmaceutical Sciences Review and Research, 36 (1), hlm. 54-62, 2016, ISSN: 0976044X, (dipetik oleh 0). |
2015 |
Clinical application of sensory integration therapy for children with autism Artikel Jurnal Egyptian Journal of Medical Human Genetics, 16 (4), hlm. 393-394, 2015, ISSN: 11108630, (dipetik oleh 1). |
Journal of Young Pharmacists, 7 (4), hlm. 403-414, 2015, ISSN: 09751483, (dipetik oleh 0). |
2014 |
Dihydropyrimidine dehydrogenase deficiency in two Malaysian siblings with abnormal MRI findings Artikel Jurnal Molecular Syndromology, 5 (6), hlm. 299-303, 2014, ISSN: 16618769, (dipetik oleh 4). |