228 research outputs found
Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view.
No full textThis review focuses on the 19 identified genes involved in X-linked "non-syndromic" mental retardation (MR) and defines the signaling pathways in which they are involved, focusing on emerging common mechanisms. The majority of proteins are involved in three distinct pathways: (1) Rho GTPases pathway modulating neuronal differentiation and synaptic plasticity; (2) Rab GTPases pathway regulating synaptic vesicle cycling; (3) gene expression regulation. The function of four proteins (ACSL4, AT2, SLC6A8, and SAP102) could not be reconciled to a common pathway. From a clinical point of view, the review discusses whether some common dysmorphic features can be identified even in non-syndromic MR patients and whether it is correct to maintain the distinction between "non-syndromic" and "syndromic" MR
Potentially treatable disorder diagnosed post Mortem by exome analysis in a boy with respiratory distress
No full textWe highlight the importance of exome sequencing in solving a clinical case of a child who died at 14 months after a series of respiratory crises. He was the half-brother of a girl diagnosed a7 years with the early-onset seizure variant of Rett syndrome due to CDKL5 mutation. We performed a test for CDKL5 in the boy, which came back negative. Driven by the mother’s compelling need for a diagnosis, we moved forward performing whole exome sequencing analysis. Surprisingly, two missense mutations in compound heterozygosity were identified in the RAPSN gene encoding a receptor-associated protein with a key role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites. This gene is responsible for a congenital form of myasthenic syndrome, a disease potentially treatable with cholinesterase inhibitors. Therefore, an earlier diagnosis in this boy would have led to a better clinical management and prognosis. Our study supports the key role of exome sequencing in achieving a definite diagnosis in severe perinatal diseases, an essential step especially when a specific therapy is available
Mutazioni missenso nel gene Myoc in pazienti in una famiglia con glaucoma primario dell‟adulto
No full textExploiting the potential of next-generation sequencing in genomic medicine
No full textIntroduction: The review highlights the impact of next-generation sequencing (NGS) on genomic medicine and the consequences of the progression from a single-gene panel technology to a whole exome sequencing approach. Areas covered: We brought together literature-based evidences, personal unpublished data and clinical experience to provide a critical overview of the impact of NGS on our daily clinical practice. Expert commentary: NGS has changed the role of clinical geneticist and has broadened the view accomplishing a transition from a monogenic Mendelian perspective to an oligogenic approach to disorders. Thus, it is a compelling new expertise which combines clinical evaluation with big omics data interpretation and moves forward to phenotype re-evaluation in light of data analysis. We introduced the term, ‘exotyping’, to highlight this holistic approach. Further, the review discusses the impact that the combination of genetic reprogramming and transcriptome analysis will have on the discovery of evidence-based therapies. © 2016 Informa UK Limited, trading as Taylor & Francis Group
Pengembangan Sistem Informasi Perpustakaan Berbasis Client Server di SMK Negeri 1 Pallangga
No full textABSTRAK
Ariani Syachrir. Pengembangan Sistem Informasi Perpustakaan Berbasis Client Server di SMK Negeri 1 Pallangga ( Dibimbing oleh Mulyadi dan Abdul Muis M).
Penelitian ini bertujuan untuk mengembangkan sistem informasi perpustakaan berbasis client server yang dapat membantu pengguna perpustakaan di SMK Negeri 1 Pallangga. Subjek dalam penelitian ini adalah siswa kelas X, guru dan pustakawan sekolah. Adapun data buku yang akan dijadikan subjek dalam pengembangan sistem adalah buku kelas X.
Metode pengembangan yang digunakan dalam penelitian ini adalah Metode Waterfall yang merupakan salah satu konsep dalam System Development Life Cycle (SDLC) atau dikenal dengan Sistem Daur Hidup. Waterfall terdiri atas lima tahap yaitu analisis kebutuhan perangkat lunak, desain, pembuatan kode program (coding), pengujian dan pemeliharaan. Teknik pengumpulan data dilakukan dengan observasi, angket dan dokumentasi. Jenis data pada penelitian ini terdiri atas data primer dan data sekunder. Data primer berbentuk kualitatif yang menunjukkan tentang kualitas sistem. Sedangkan data sekunder dapat dikumpulkan dari identitas subjek (siswa, guru dan pustakawan) dan data buku (judul buku, letak buku, nama pengarang, penerbit, tahun dan kode buku).
Penelitian ini menghasilkan sistem informasi perpustakaan berbasis client server yang akan digunakan di SMK Negeri 1 Pallangga. Uji coba produk dilakukan dalam tiga tahapan yaitu uji ahli, uji terbatas dan uji lapangan. Sistem informasi perpustakaan yang dikembangkan telah divalidasi oleh ahli serta telah diuji coba pada pengguna dan pustakawan. Hasil penelitian menunjukkan bahwa sistem informasi perpustakaan telah layak digunakan di SMK Negeri 1 Pallangga baik dari aspek penggunaan dan aspek penilaian. Hal ini didukung dari penilaian validator terhadap enam aspek menghasilkan kategori yang sangat baik. Persepsi terhadap penggunaan dan penilaian produk oleh admin dan user juga menunjukkan kategori sangat baik.
Kata Kunci : pengembangan, sistem informasi, perpustakaan.
ABSTRACT
ARIANI SYACHRIR. 2013. Development of Client Server Based of Library Information System in SMK Negeri 1 Pallangga (supervised by Mulyadi and Abdul Muis M.).
The study aimed at developing client server based of Library Information system which could assist the users of library in SMKN 1 Pallangga. The subjects of the study were grade X students, teachers, and librarians of the school. Books data which would be the subjects in the development system was grade X books.
The method used on the development was Waterfall method, one of a concept in System Development Life Cycle (SDLC). Waterfall consisted of five stages, namely needs analysis of software, design, coding, testing and maintaining. Data ware collected using observation, questionnaire, and documentation. The types of data used ware primary and secondary data. The primary data was in a from of qualitative which reveal the quality of the system; whereas, secondary data were collected from subjects’ identity (students, teachers, and librarians) and books data (title, location, author, publisher, year and book code).
The study produced client server based of library information system used in SMKN 1 Pallangga. The tryouts of the product were conducted in three stages, namely expert test, limited tryout, and field test. The library information system developed was validated by the experts and was tested to the users and librarians. The results of the study indicated that library information system is feasible to be used in SMKN 1 Pallangga both on the experts on six aspects resulted on extremely good category. The perception on the use and evaluation of the product by the administrator and user was in extremely good category.
Keywords: development, information system, library
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.
No full textBackground: Rett syndrome is a severe neurodevelopmental disorder, almost exclusively affecting females and characterised by a wide spectrum of clinical manifestations. Both the classic form and preserved speech variant of Rett syndrome are due to mutations in the MECP2 gene. Several other variants of Rett syndrome have been described. In 1985, Hanefeld described a variant with the early appearance of convulsions. In this variant, the normal perinatal period is soon followed by the appearance of seizures, usually infantile spasms. We have observed two patients with signs of Rett syndrome showing acquired microcephaly and stereotypic midline hand movements. The disease started with generalised convulsions and myoclonic fits at 1.5 months in the first patient and with spasms at 10 days in the other, suggesting a diagnosis of the Hanefeld variant. In these patients, MECP2 point mutations and gross rearrangements were excluded by denaturing high performance liquid chromatography and real time quantitative PCR. The ARX and CDKL5 genes have been associated with West syndrome (infantile spasms, hypsarrhythmia, and mental retardation).
Methods: Based on the clinical overlap between the Hanefeld variant and West syndrome, we analysed ARX and CDKL5 in the two girls.
Results: We found frameshift deletions in CDKL5 in both patients; one in exon 5 (c.163_166delGAAA) and the other in exon 18 (c.2635_2636delCT). CDKL5 was then analysed in 19 classic Rett and 15 preserved speech variant patients, all MECP2 negative, but no mutations were found.
Conclusion: Our results show that CDKL5 is responsible for a rare variant of Rett syndrome characterised by early development of convulsions, usually of the spasm type
Identification of a novel pathogenic variant in the NAGLU gene in a child with neurodevelopmental delay
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