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Irish Child Health Database - Peer Reviewed Papers

Database Search

How to use this database.

• Method 1- uses a free natural language approach.

  After choosing the object of the search – by ticking title, abstract, aims and objective, or author - enter a term, word or name in the ‘Search’ box to return references answering your research question.

• Method 2 - utilises key words.

  Those key words assigned from thesauruses of controlled vocabulary by the trained coders of international bibliographic databases.
  The controlled vocabularies key word are listed alphanumerically under 'Bibliographic database keywords' .
  Use the drop down menu to identity which 'key words' you are interested in to return references to answer your research question.

• Method 3 - is based on the indexing system

  developed by the researchers who compiled this database.
  It adopts a thematic approach to mapping Irish child health research. The themed areas represent outcomes mapped to the International Classification of Disease version 10 (ICD-10) or one of 23 other health-related themed outcomes. Themes are defined in Tables 5 to 7 (of the study report).
  Use the alphabetic drop down menu under ‘ICD-10 or themed health-related outcomes’ to identity which themed areas you are interested in to select references to answer your research question.

• Method 4 – allows papers to be searched by Study type.

  Indexing by study type offers a valuable insight into understanding the population impact of the topic of interest. More than 20 study types were identified across the 2,152 study papers. These are defined in Table 3 (of the study report). Within 'Study type' papers are further stratification by geographical region (Table 49), topic area of interest and study aims and objectives.
  Click on 'Study type' to select the type of study of interest, progressively select sub-categories by topic area or other sub-classification of interest to answer your research question.

The complete background, methods and findings from this mapping exercise are detailed in the study report.

Mutation

Your search returns 19 documents

• 1.   Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk

  The aim of this study was to analysis the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk

  

  Abstract:

  BACKGROUND: Polymorphisms in the serine protease inhibitor gene serine peptidase inhibitor Kazal type 5 (SPINK5) and the serine protease kallikrein-related peptidase 7 gene (KLK7) appear to confer risk to eczema in some cohorts, but these findings have not been widely replicated. These genes encode proteins thought to be involved in the regulation of posttranslation processing of more...

  International Classification:

  Diseases of the skin and subcutaneous tissue - Dermatitis and eczema - eczema

  Categories:

  range of polymorphisms; -eczema risk

  Geography:

  International

  J Allergy Clin Immunol, Vol: 122 Page: 560-8 e4 September 2008
  S. Weidinger; H. Baurecht; S. Wagenpfeil; J. Henderson; N. Novak; A. Sandilands; H. Chen; E. Rodriguez; G. M. O'Regan; R. Watson; H. Liao; Y. Zhao; J. N. Barker; M. Allen; N. Reynolds; S. Meggitt; K. Northstone; G. D. Smith; C. Strobl; C. Stahl; T. Kneib; N. Klopp; T. Bieber; H. Behrendt; C. N. Palmer; H. E. Wichmann; J. Ring; T. Illig; W. H. McLean; A. D. Irvine

  [Preview] [Read]

• 2.   Asplenia in ATR-X syndrome: a second report

  These case reports discuss a patient presenting with mental retardation and asplenia who has been shown to have a mutation at the ATR-X locus

  

  Abstract:

  Mutation at the ATR-X locus is associated with severe mental retardation. Several conditions, initially reported as clinically distinct phenotypes, have now been attributed to ATR-X mutation. Asplenia, in association with severe mental retardation, has been reported and subsequently demonstrated in one family to be due to ATR-X mutation. We now report on a second instance of a patient more...

  International Classification:

  Congenital malformations, deformations and chromosomal abnormalities - Report

  Categories:

  mental retardation - genetic

  Geography:

  Republic of Ireland

  Am J Med Genet A, Vol: 139 Page: 37-9 November 2005
  R. T. Leahy; R. K. Philip; R. J. Gibbons; C. Fisher; M. Suri; W. Reardon

  [Preview] [Read]

• 3.   Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in the Irish population

  The aim of this study was to examine the prevalence of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, the AIRE mutations involved and clinical features of this population

  

  Abstract:

  OBJECTIVE: To determine the Irish prevalence of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), the AIRE mutations involved and clinical features of this population. METHODS: All patients were identified through paediatricians and endocrinologists in Ireland. Patients were invited to attend a multidisciplinary clinic. RESULTS: Thirty-one patients (2-56 years), more...

  International Classification:

  Syndrome - autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

  Categories:

  autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

  Geography:

  Republic of Ireland

  J Pediatr Endocrinol Metab, Vol: 19 Page: 1343-52 November 2006
  M. Dominguez; E. Crushell; T. Ilmarinen; E. McGovern; S. Collins; B. Chang; P. Fleming; A. D. Irvine; D. Brosnahan; I. Ulmanen; N. Murphy; C. Costigan

  [Preview] [Read]

• 4.   Autosomal dominant early childhood seizures associated with chondrocalcinosis and a mutation in the ANKH Gene

  This case report describes the pattern of early childhood seizures within a family with autosomal dominant chondrocalcinosis (CCAL, which causes adult-onset arthritis)

  

  Abstract:

  We describe the pattern of early childhood seizures within a family with autosomal dominant chondrocalcinosis (CCAL, which causes adult-onset arthritis). All affected family members with CCAL experienced seizures in early childhood, usually, but not always, associated with fever. Similarities exist to the syndrome of generalized epilepsy with febrile seizures plus (GEFS+). A mutation more...

  International Classification:

  Diseases of the musculoskeletal system and connective tissue - Report

  Categories:

  autosomal dominant chondrocalcinosis;

  Geography:

  Northern Ireland

  Epilepsia, Vol: 45 Page: 1258-60 October 2004
  S. McKee; A. Pendleton; J. Dixey; M. Doherty; A. Hughes

  [Preview] [Read]

• 5.   Autosomal dominant peripheral cystic retinal patches and non-cystic retinal tufts associated with peripapillary crescents, retinal breaks and uveitis

  The aim of this study was to characterise an Irish kindred with apparent autosomal dominant peripheral retinal lesions and peripapillary crescents associated with retinal breaks and uveitis to examine the association with altered homocysteine metabolism

  

  Abstract:

  PURPOSE: To characterise an Irish kindred with apparent autosomal dominant peripheral retinal lesions and peripapillary crescents associated with retinal breaks and uveitis and assess whether these findings were associated with altered homocysteine metabolism. METHODS: Family members were followed prospectively and regularly examined. Molecular genetic analysis was performed on family more...

  International Classification:

  Diseases of the eye and adnexa - Disorders of sclera, cornea, iris and ciliary body - uveitis

  Categories:

  peripheral retinal lesions; uveitis

  Geography:

  Republic of Ireland

  Graefes Arch Clin Exp Ophthalmol, Vol: 239 Page: 102-8 February 2001
  M. Cahill; P. Gallagher; A. Whitehead; R. Acheson

  [Preview] [Read]

• 6.   Breaking the (un)sound barrier: filaggrin is a major gene for atopic dermatitis

  This article discusses a gene for atopic dermatitis

  

  Abstract:

  We have recently shown that loss-of-function mutations in the filaggrin gene, carried by about 10% of people of European ethnicity, cause ichthyosis vulgaris and are strong predisposing factors for atopic dermatitis and asthma secondary to atopic dermatitis. These results demonstrate a prominent role for the epidermal barrier in atopic disease and have important implications for the more...

  Geography:

  Republic of Ireland

  J Invest Dermatol, Vol: 126 Page: 1200-2 June 2006
  A. D. Irvine; W. H. McLean

  [Preview] [Read]

• 7.   Clinical and molecular findings in IPEX syndrome

  This case report discusses clinical and molecular findings in IPEX syndrome

  

  Abstract:

  IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome) is a rare disorder which usually results in death in early infancy or childhood. Clinical awareness remains the cornerstone of diagnosis, and provided that the diagnosis is entertained, mutation analysis for FOXP3 gene mutations can be confirmatory. Two new patients in whom IPEX was diagnosed retrospectively more...

  International Classification:

  Syndrome

  Categories:

  IPEX syndrome

  Geography:

  Republic of Ireland

  Arch Dis Child, Vol: 91 Page: 63-4 January 2006
  A. K. Myers; L. Perroni; C. Costigan; W. Reardon

  [Preview] [Read]

• 8.   Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland

  The aim of this study was to examine the spectrum of the mutations identified in the gene responsible for cystic fibrosis in three cohorts of patients of Celtic origin from Brittany and Ireland.

  

  Abstract:

  This study aims to compare the spectrum of the mutations identified in the gene responsible for cystic fibrosis in three cohorts of patients of Celtic origin from Brittany and Ireland. It included 389 patients from Brittany, 631 from Dublin and 139 from Cork. The CFTR gene analysis relied on the detection of the most common mutations, followed by a complete gene scanning using DGGE or more...

  International Classification:

  Endocrine, nutritional and metabolic diseases - Metabolic disorders - cystic fibrosis

  Categories:

  cystic fibrosis

  Geography:

  International

  Hum Mutat, Vol: 22 Page: 105 July 2003
  V. Scotet; D. E. Barton; J. B. Watson; M. P. Audrezet; T. McDevitt; S. McQuaid; C. Shortt; M. De Braekeleer; C. Ferec; C. Le Marechal

  [Preview] [Read]

• 9.   Comprehensive genetic and histopathologic study reveals three types of neuroblastoma tumors

  The aim of this study was to examine the relationship between multiple genetic features, tumor morphology, and prognosis in neuroblastoma

  

  Abstract:

  PURPOSE: To determine the relationship between multiple genetic features, tumor morphology, and prognosis in neuroblastoma. PATIENTS AND METHODS: The genetic alterations and morphologic features that underpin three histopathologic risk classifications were analyzed in 108 neuroblastoma patients. Tumors were subdivided into four groups based on the three most frequent and prognostically more...

  International Classification:

  Neoplasms - Malignant neoplasms - neuroblastoma

  Categories:

  neuroblastoma

  Geography:

  Republic of Ireland and the United Kingdom

  J Clin Oncol, Vol: 19 Page: 3080-90 June 2001
  M. Lastowska; C. Cullinane; S. Variend; S. Cotterill; N. Bown; S. O'Neill; K. Mazzocco; P. Roberts; J. Nicholson; C. Ellershaw; A. D. Pearson; M. S. Jackson

  [Preview] [Read]

• 10.   Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

  This study examined the dermatological features of Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in an Irish case series with emphasis on timing of their appearance and association with disease severity

  

  Abstract:

  BACKGROUND: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED; OMIM 240300) is a rare autosomal recessive disorder defined by a variable combination of endocrine failure, chronic mucocutaneous candidiasis (CMC), and dystrophy of the dental enamel and nails. APECED is caused by mutations in the autoimmune regulator gene (AIRE). Alopecia areata (AA) and more...

  International Classification:

  Syndrome - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

  Categories:

  autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

  Geography:

  Republic of Ireland

  Br J Dermatol, Vol: 154 Page: 1088-93 June 2006
  S. M. Collins; M. Dominguez; T. Ilmarinen; C. Costigan; A. D. Irvine

  [Preview] [Read]

• 11.   Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene

  This case report discusses a 10 year old girl with "odd shaped" skull and family history of craniosynostois

  

  International Classification:

  Other - Growth and development-craniosynostois

  Categories:

  craniosynostois

  Geography:

  Northern Ireland

  Ulster Med J, Vol: 70 Page: 47-50 May 2001
  J. Hughes; N. C. Nevin; P. J. Morrison

  [Preview] [Read]

• 12.   Inherited defects in keratins

  This article discusses current knowledge in relation to basic keratin biology, known disease associations, and genotype correlation in this diverse and complex group of conditions

  

  Abstract:

  In the years following the initial reports of keratin gene mutations in epidermolysis bullosa simplex, great strides have been made in understanding the basic biology of human keratins and in understanding the etiology and pathogenesis of a number of specific human single gene disorders. A total of 19 human keratin genes is now linked to specific diseases. This article summarizes more...

  Geography:

  Republic of Ireland

  Clin Dermatol, Vol: 23 Page: 6-14 2005 Jan-Feb
  A. D. Irvine

  [Preview] [Read]

• 13.   Journal watch

  This article discusses newly published studies relevant to Nursing

  

  Geography:

  International

  World of Irish Nursing & Midwifery, Vol: 16 Page: 29-29 2008

  [Preview] [Read]

• 14.   Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon?

  This article discusses kidney failure as a constituent element of the natural history of Townes-Brocks syndrome

  

  Abstract:

  Though uncommon, kidney malformations are described in several cases of Townes-Brocks syndrome. By contrast, kidney failure has been reported as the presenting feature of Townes-Brocks syndrome on only one occasion. While the SALL1 gene, mutations of which result in the Townes-Brocks phenotype, is expressed in the developing kidney, the absence of other corroborative reports of kidney more...

  Geography:

  Republic of Ireland

  Am J Med Genet A, Vol: 143A Page: 2588-91 November 2007
  W. Reardon; L. F. Casserly; R. Birkenhager; J. Kohlhase

  [Preview] [Read]

• 15.   Lack of MEF2A Delta7aa mutation in Irish families with early onset ischaemic heart disease, a family based study

  The aim of this study was to describe the MEF2A gene in individuals had early-onset ischaemic heart disease

  

  Abstract:

  BACKGROUND: Ischaemic heart disease (IHD) is a complex disease due to the combination of environmental and genetic factors. Mutations in the MEF2A gene have recently been reported in patients with IHD. In particular, a 21 base pair deletion (Delta7aa) in the MEF2A gene was identified in a family with an autosomal dominant pattern of inheritance of IHD. We investigated this region of the more...

  International Classification:

  Diseases of the circulatory system - ischaemic heart disease

  Categories:

  ischaemic heart disease

  Geography:

  Northern Ireland

  BMC Med Genet, Vol: 7 Page: 65 2006
  P. G. Horan; A. R. Allen; A. E. Hughes; C. C. Patterson; M. Spence; P. G. McGlinchey; C. Belton; T. C. Jardine; P. P. McKeown

  [Preview] [Read]

• 16.   Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland

  The aim of this study was to detail the cystic fibrosis transmembrane conductance regulator variants in 31 unrelated cystic fibrosis patients

  

  International Classification:

  Endocrine, nutritional and metabolic diseases - Metabolic disorders - cystic fibrosis

  Categories:

  cystic fibrosis

  Geography:

  Northern Ireland

  J Med Genet, Vol: 38 Page: 136-9 February 2001
  D. Hughes; T. Dork; M. Stuhrmann; C. Graham

  [Preview] [Read]

• 17.   Novel and Mediterranean beta thalassemia mutations in the indigenous Northern Ireland population

  This aim of this study was to screen for beta thalassemia traits in Northern Ireland

  

  Abstract:

  beta thalassemia is one of the most common genetic diseases worldwide resulting from aberrant beta-globin chain production. It is highly prevalent in regions with endemic malaria, but it is also present at low frequency in the indigenous populations of non-tropical areas such as Britain. Screening beta thalassemia trait individuals from Northern Ireland has detected 2 Mediterranean more...

  International Classification:

  Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism - beta thalassemia

  Categories:

  beta thalassemia traits

  Geography:

  Northern Ireland

  Blood Cells Mol Dis, Vol: 36 Page: 265-8 2006 Mar-Apr
  M. Knott; K. M. Ramadan; G. Savage; F. G. Jones; M. El-Agnaf; M. F. McMullin; M. J. Percy

  [Preview] [Read]

• 18.   Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase

  This case report 2 mutations, E255- and G291D, identified in the nicotinamide adenine dinucleotide -binding lobe of cytb(5)r in previously reported patients, and detection of a further novel mutation, D239G, in this lobe in two unrelated Irish families

  

  Abstract:

  Type I recessive congenital methaemoglobinaemia (RCM), caused by the reduced form of nicotinamide adenine dinucleotide (NADH)-cytochrome b(5) reductase (cytb(5)r) deficiency, manifests clinically as cyanosis without neurological dysfunction. Two mutations, E255- and G291D, have been identified in the NADH-binding lobe of cytb(5)r in previously reported patients, and we have detected a more...

  International Classification:

  Congenital malformations, deformations and chromosomal abnormalities - Report

  Categories:

  mutations of the nicotinamide adenine dinucleotide -binding lobe of cytb(5)r

  Geography:

  Northern Ireland

  Br J Haematol, Vol: 129 Page: 847-53 June 2005
  M. J. Percy; L. J. Crowley; C. A. Davis; M. F. McMullin; G. Savage; J. Hughes; C. McMahon; R. J. Quinn; O. Smith; M. J. Barber; T. R. Lappin

  [Preview] [Read]

• 19.   Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland

  The aim of this study was to examine the prevalence of tuberous sclerosis complex, the clinical features attributed to it, and the availability of mutational analysis

  

  Abstract:

  Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 and TSC2 genes on chromosomes 9 and 16 respectively. Diagnosis is based on clinical features but can be difficult as a result of variable phenotypic expression. With the advantage of mutation analysis in making a diagnosis of TSC, and improved identification of the associated clinical more...

  International Classification:

  Certain infectious and parasitic diseases - Tuberculosis - tuberculosis

  Categories:

  Tuberous sclerosis complex

  Geography:

  Northern Ireland

  Developmental Medicine & Child Neurology, Vol: 48 Page: 495-499 2006
  L. A. Devlin; C. H. Shepherd; H. Crawford; P. Morrison

  [Preview] [Read]