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First isode

J Lloyd Holder, Satish Agadi, William Reese, Catherine Rehder, Michael M Quach
IMPORTANCE: Isolated sulfite oxidase deficiency (ISOD) causes severe intellectual disability, epilepsy, and shortened life expectancy. Intractable seizures are invariable in children with ISOD; however, to our knowledge, infantile spasms with a corresponding hypsarrhythmia pattern on electroencephalogram have never been reported. In addition, the nonepileptic paroxysmal movement disorder hyperekplexia has not previously been reported with ISOD. OBSERVATIONS: We describe an infant with ISOD who initially presented with neonatal seizures, diffusion restriction noted on magnetic resonance imaging, and elevated serum S-sulfocysteine consistent with ISOD...
June 2014: JAMA Neurology
Rajendra Rai, Jennifer J Tate, Isabelle Georis, Evelyne Dubois, Terrance G Cooper
Nitrogen catabolite repression (NCR)-sensitive transcription is activated by Gln3 and Gat1. In nitrogen excess, Gln3 and Gat1 are cytoplasmic, and transcription is minimal. In poor nitrogen, Gln3 and Gat1 become nuclear and activate transcription. A long standing paradox has surrounded Gat1 production. Gat1 was first reported as an NCR-regulated activity mediating NCR-sensitive transcription in gln3 deletion strains. Upon cloning, GAT1 transcription was, as predicted, NCR-sensitive and Gln3- and Gat1-activated...
January 31, 2014: Journal of Biological Chemistry
Monica Del Rizzo, Alessandro P Burlina, Jörn Oliver Sass, Frauke Beermann, Chiara Zanco, Chiara Cazzorla, Andrea Bordugo, Laura Giordano, Renzo Manara, Alberto B Burlina
We report the first case of late-onset isolated sulfite oxidase deficiency (ISOD) presenting with a stroke-like episode. Clinical, biochemical and neuroradiological features at diagnosis and during follow-up after dietary treatment intervention are described. Furthermore, pathogenic mechanisms possibly leading to stroke in ISOD are discussed.
April 2013: Molecular Genetics and Metabolism
Manita Grover, Anand Kumar Vaidyanathan, Padmanabhan Thallam Veeravalli
PURPOSE: The aim of this study was to assess the use of single implant-supported, magnet-retained mandibular overdentures to improve the oral health-related quality of life (OHRQoL) and masticatory performance of patients wearing conventional complete dentures. The study also aimed at comparing the OHRQoL, masticatory performance, and crestal bone loss with two different types of overdenture prosthesis. MATERIALS AND METHODS: Ten completely edentulous patients with atrophic mandibular residual alveolar ridges and having difficulty coping with technically adequate mandibular dentures were selected for implant-supported overdentures (ISOD)...
May 2014: Clinical Oral Implants Research
Shujia Dai, Wenqin Ni, Alexander N Patananan, Steven G Clarke, Barry L Karger, Zhaohui Sunny Zhou
The formation of isoaspartyl residues (isoAsp or isoD) via either aspartyl isomerization or asparaginyl deamidation alters protein structure and potentially biological function. This is a spontaneous and nonenzymatic process, ubiquitous both in vivo and in nonbiological systems, such as in protein pharmaceuticals. In almost all organisms, protein L-isoaspartate O-methyltransferase (PIMT, EC2.1.1.77) recognizes and initiates the conversion of isoAsp back to aspartic acid. Additionally, alternative proteolytic and excretion pathways to metabolize isoaspartyl-containing proteins have been proposed but not fully explored, largely due to the analytical challenges for detecting isoAsp...
February 19, 2013: Analytical Chemistry
Min Liu, Janet Cheetham, Nina Cauchon, Judy Ostovic, Wenqin Ni, Da Ren, Zhaohui Sunny Zhou
Arising from spontaneous aspartic acid (Asp) isomerization or asparagine (Asn) deamidation, isoaspartic acid (isoAsp, isoD, or beta-Asp) is a ubiquitous nonenzymatic modification of proteins and peptides. Because there is no mass difference between isoaspartyl and aspartyl species, sensitive and specific detection of isoAsp, particularly in complex samples, remains challenging. Here we report a novel assay for Asp isomerization by isotopic labeling with (18)O via a two-step process: the isoAsp peptide is first specifically methylated by protein isoaspartate methyltransferase (PIMT, EC 2...
January 17, 2012: Analytical Chemistry
J M Thomason, S A M Kelly, A Bendkowski, J S Ellis
The McGill consensus statement on overdentures (14) was published following a symposium held at McGill University in Montreal, Canada in 2002. A panel of relevant experts in the field stated that: The evidence currently available suggests that the restoration of the edentulous mandible with a conventional denture is no longer the most appropriate first choice prosthodontic treatment. There is now overwhelming evidence that a two-implant overdenture should become the first choice of treatment for the edentulous mandible (14)...
January 2012: Journal of Dentistry
Emma E Hobson, Sumesh Thomas, Patricia M Crofton, Alison D Murray, John C S Dean, David Lloyd
UNLABELLED: Isolated sulphite oxidase deficiency (ISOD) is a rare autosomal recessive inborn error of metabolism, which may present at birth with intractable seizures (often of prenatal onset) and severe neurological abnormalities. In infants who survive, lens dislocation may occur from 8 weeks of age. The neuropathological findings in ISOD are similar to those seen in severe perinatal asphyxia. We describe two siblings with ISOD born to healthy non-consanguineous parents. The first child presented within 48 h of birth with poor feeding and seizures...
November 2005: European Journal of Pediatrics
E A Wulfsberg, R S Sparkes, I J Klisak, W B Gurfield
We report a patient with a 15 leads to 1 translocation who was mosaic for presence or absence of an isodic(15p)(q11). Her phenotype is similar to that of patients with deletions of proximal 15q or isodic(15p). Several phenotypes, including the Prader-Labhart-Willi syndrome, have been described with abnormalities of proximal 15q and have in common severe hypotonia, developmental delay, and lack of major congenital anomalies. Our patient is the first to be described with an isodic (15p)(q11) associated with a nonreciprocal translocation...
December 1982: American Journal of Medical Genetics
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