Irish Child Health Database - Peer Reviewed Papers
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Mutation/genetics
Your search returns 6 documents
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The aim of this study was to examine on connexin 26 gene-related deafness mutation analysis along with speech discrimination assessment was undertaken to assess the impact of pediatric cochlear implantees on these disabilities
Abstract:
HYPOTHESIS: Auditory perception and speech discrimination among pediatric cochlear implantees may vary because of underlying deafness etiology, including connexin 26 (GJB2) gene-related deafness. BACKGROUND: Preliminary data suggest pathologic changes due to GJB2 mutations do not affect the spiral ganglion cells, which are stimulated by the cochlear implant. The survival of the spiral more...
International Classification:
Diseases of the ear and mastoid process - Other disorders of ear - deafness
Categories:
deafness; cochlear implant
Geography:
Northern Ireland
Otol Neurotol,
Vol: 25 Page: 930-4 November 2004
A. R. Sinnathuray; J. G. Toner; A. Geddis; J. Clarke-Lyttle; C. C. Patterson; A. E. Hughes
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This study aimed to explore current practice in the molecular diagnosis of haemochromatosis and draft guidelines were prepared using the template developed by the United Kingdom Clinical Molecular Genetics Society
Abstract:
BACKGROUND: Hereditary haemochromatosis (HH) is a recessively-inherited disorder of iron over-absorption prevalent in Caucasian populations. Affected individuals for Type 1 HH are usually either homozygous for a cysteine to tyrosine amino acid substitution at position 282 (C282Y) of the HFE gene, or compound heterozygotes for C282Y and for a histidine to aspartic acid change at position more...
International Classification:
Practice/knowledge - Symptoms, signs and abonormal clinical and laboratory findings not elses were classified-haemochromatosis
Categories:
molecular diagnosis of haemochromatosis
Geography:
Republic of Ireland
BMC Med Genet,
Vol: 7 Page: 81 2006
C. King; D. E. Barton
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The aim of this study was to examine the hypothesis that speech intelligibility in children after cochlear implantation may depend on their deafness cause, including connexin 26 (GJB2) gene-related deafness
Abstract:
HYPOTHESIS: Speech intelligibility in children after cochlear implantation may depend on their deafness cause, including connexin 26 (GJB2) gene-related deafness. BACKGROUND: There is significant variability in the degree of intelligibility, or clarity, of children's speech after cochlear implantation. GJB2 gene-related deafness may be a factor, as preliminary data suggest that more...
International Classification:
Diseases of the ear and mastoid process - Other disorders of ear - deafness
Categories:
deafness; cochlear implant
Geography:
Northern Ireland
Otol Neurotol,
Vol: 25 Page: 935-42 November 2004
A. R. Sinnathuray; J. G. Toner; J. Clarke-Lyttle; A. Geddis; C. C. Patterson; A. E. Hughes
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The aim of this study was to examine issues about dopaminergic system genes in attention-deficit hyperactivity disorder and generate biological hypothesis
Abstract:
Converging evidence has implicated abnormalities of dopamine neurotransmission to the pathology of attention deficit hyperactivity disorder (ADHD). Several genetic association studies have been published, but so far, no DNA variants have been unequivocally demonstrated as contributing to ADHD susceptibility. Four dopamine related gene loci have been implicated, however: DAT 1, DRD 4, more...
International Classification:
Mental and behavioural disorders - Behavioural and emotional disorders with onset usually occurring in childhood and adolescence - attention-deficit hyperactivity disorder
Categories:
attention-deficit hyperactivity disorder
Geography:
Republic of Ireland
Neuropsychopharmacology,
Vol: 27 Page: 607-19 October 2002
A. Kirley; Z. Hawi; G. Daly; M. McCarron; C. Mullins; N. Millar; I. Waldman; M. Fitzgerald; M. Gill
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This article discusses inherited deafness in children
Geography:
Republic of Ireland
Arch Dis Child,
Vol: 82 Page: 319-21 April 2000
W. Reardon; R. F. Mueller
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The aim of this study was to examine four single nucleotide polymorphisms two of which (rs1843809, rs1386493) were reported to associate with attention-deficit hyperactivity disorder
Abstract:
Tryptophan Hydroxylase 2 (TPH2) is the rate-limiting enzyme in the biosynthesis of serotonin which is exclusively expressed in the brain. Recent molecular studies reported significant association between markers mapped to TPH2 and psychiatric conditions including ADHD. We have examined four single nucleotide polymorphisms (SNPs) two of which (rs1843809, rs1386493) were reported to more...
International Classification:
Mental and behavioural disorders - Behavioural and emotional disorders with onset usually occurring in childhood and adolescence - attention-deficit hyperactivity disorder
Categories:
attention-deficit hyperactivity disorder
Geography:
Republic of Ireland
Neurosci Lett,
Vol: 412 Page: 105-7 January 2007
K. Sheehan; Z. Hawi; M. Gill; L. Kent
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