Home | Sitemap | Contact Us | FAQs | Links | Publications | Press | Speeches |

• About Us
  • Introduction
  • Contact us
  • Customer Service
  • DCYA Strategy
  • Designated Public Officials
  • Framework of Assignments
  • Organisation Structure
  • State Boards
• Minister for Children and Youth Affairs
• Childcare
  • What we do
  • Affordable Childcare Scheme
  • Free Pre-School year in Early Childhood Care and Education (ECCE) Programme
  • Community Childcare Subvention (CCS) Programme
  • Training and Employment Childcare (TEC) Programmes
  • City/County Childcare Committees (CCCs)
  • Childcare Regulations
  • Pre-School Inspections
  • Childminders
  • Early Years Education-Focused Inspections
  • Information for Parents
  • Qualifications
  • Childcare Initiatives
• Tusla
  • Overview
  • Contact Tusla
  • Board and CEO
  • Governance and Performance
• Children In Care
  • Introduction
  • Pathway Into Care
  • What Can you Expect When in Care?
  • Role of Social Workers and Gardaí
  • Aftercare
  • Legislation, Regulations and Standards
  • Reports, Data and Fact Sheets
• Participation
  • What we do
  • Comhairle na nÓg
  • Dáil na nÓg
  • Consultations
  • National Strategy on Participation of Children in Decision Making
  • Children and Young People's Participation Support Team
  • Participation Hub
• Play, Recreation & Culture
  • Play & Recreation
  • Culture
• Children and Young People's Participation Hub
  • Children's Participation Hub Database
  • Developing the Hub
• Child Welfare and Protection
  • What We Do
  • North South Ministerial Council
  • FAQ
• Children First
  • Overview & FAQs
  • Children First Legislation
  • Children First Guidance
  • Children First Implementation
  • DCYA Child Protection Policy
• Adoption
• Irish Youth Justice Service
• Youth Affairs
  • What We Do
  • Funding
  • Programmes
  • Policies & Initiatives
  • Young Voices!!
  • Further Information
• Area Based Childhood (ABC) Programme
  • Overview
• Mother and Baby Homes Investigation
• Children and Young People's Services Committees (CYPSC)
  • CYPSC
• Reform of Guardian ad litem Arrangements
• Quality and Capacity Building Initiative
  • QCBI
• Better Outcomes, Brighter Futures
  • Better Outcomes, Brighter Futures
  • Advisory Council
  • Publications
  • Survey
• Legislation
• International Framework
  • UNCRC
  • EU and Council of Europe
• Research
  • What we do
  • Children's Funded Research Programme
  • National Set of Child Well Being Indicators
  • Measuring Child Well Being
  • State of the Nation's Children Report
  • Research Placement Programme
  • Research Scholarship Programme
  • Research Briefing Notes
  • FAQ
• Growing Up in Ireland
  • DCYA/IRC Scholarship
  • Growing Up in Ireland Phase 1
  • Growing Up In Ireland Publications
• National Research and Data Strategy
  • Background to the Strategy
  • Action Plan Updates
  • Inventory of Data Sources
  • Research Development Initiative Briefing Notes
• Children's Database
• Financial Information
  • Prompt Payments
  • Purchase Orders for €20,000 or above
  • Purchasing & Procurement Information
• Freedom of Information

Irish Child Health Database - Peer Reviewed Papers

Database Search

genetic variability

Your search returns 4 documents

• 1.   A novel variant of familial glucocorticoid deficiency prevalent among the Irish traveler population

  The aim of this study was to describe the clinical features and assess the prevalence of Familial Glucocorticoid Deficiency amongst Irish Travelers in the Republic of Ireland and describe their phenotype.

  

  Abstract:

  Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by distinct clinical, biochemical, and genetic abnormalities. The prevalence of FGD is unknown, with the likelihood that cases remain undiagnosed. We noted a significant proportion of our FGD cases are Irish Travelers. Irish Travelers are an endogamous nomadic group ethnically and more...

  International Classification:

  Endocrine, nutritional and metabolic disease - Familial Glucocorticoid Deficiency

  Categories:

  Familial Glucocorticoid Deficiency; Travellers

  Geography:

  Republic of Ireland

  Journal of Clinical Endocrinology and Metabolism, Vol: 93 Page: 2896-2899 2008
  S. M. P. O'Riordan; S. A. Lynch; P. C. Hindmarsh; L. F. Chan; A. J. L. Clark; C. Costigan

  [Preview] [Read]

• 2.   Genomic polymorphic profiles in an Irish population with meningococcaemia: Is it possible to predict severity and outcome of disease?

  The aim of this study was to investigated whether polymorphisms in genes encoding these cytokines, and in those encoding anti-inflammatory IL-10 and IL-1Ra, are associated with the outcome in patients with meningococcal disease

  

  Abstract:

  Patients with meningococcal disease have increased plasma levels of proinflammatory cytokines IL-6, IL-1(beta), and TNF-(alpha), with higher levels associated with fatal outcome. This study investigated whether polymorphisms in genes encoding these cytokines, and in those encoding anti-inflammatory IL-10 and IL-1Ra, are associated with the outcome in patients with meningococcal disease. more...

  International Classification:

  Certain infectious and parasitic diseases - Other bacterial diseases - meningococcal disease

  Categories:

  cytokines; -meningococcal disease

  Geography:

  Republic of Ireland

  Genes and Immunity, Vol: 4 Page: 533-540 2003
  J. Balding; C. M. Healy; W. J. Livingstone; B. White; L. Mynett-Johnson; M. Cafferkey; O. P. Smith

  [Preview] [Read]

• 3.   Latitudinal variation in the prevalence of multiple sclerosis in Ireland, an effect of genetic diversity

  The aim of this study was to examine the prevalence of multiple sclerosis in Co. Wexford in the south east of Ireland and Co. Donegal in the north west, and to establish whether a variation in prevalence of MS exists within Ireland

  

  Abstract:

  Background: Northern Ireland has a high and rising prevalence rate of multiple sclerosis (MS). The most recent survey in 1996 found a rate of 168.7/100 000. Recorded prevalence rates for the south of Ireland, including County Wexford, have been markedly lower and seemed to suggest the existence of a prevalence gradient within the island. Objectives: To compare the prevalence of multiple more...

  International Classification:

  Diseases of the nervous system - Demyelinating diseases of the central nervous system - multiple sclerosis

  Categories:

  multiple sclerosis

  Geography:

  Republic of Ireland

  Journal of Neurology, Neurosurgery and Psychiatry, Vol: 75 Page: 572-576 2004
  C. McGuigan; A. McCarthy; C. Quigley; L. Bannan; S. A. Hawkins; M. Hutchinson

  [Preview] [Read]

• 4.   REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

  The aim of this study was to examine REEP1 mutation spectrum and genotype/phenotype correlation for hereditary spastic paraplegia type 31

  

  Abstract:

  Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for REEP1 mutations and copy number variations. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients more...

  International Classification:

  Diseases of the nervous system - Cerebral palsy and other paralytic syndromes - spastic paraplegia

  Categories:

  hereditary spastic paraplegia type 31

  Geography:

  International

  Brain, Vol: 131 Page: 1078-1086 2008
  C. Beetz; R. Schule; T. Deconinck; K. N. Tran-Viet; H. Zhu; B. P. H. Kremer; S. G. M. Frints; W. A. G. Van Zelst-Stams; P. Byrne; S. Otto; A. O. H. Nygren; J. Baets; K. Smets; B. Ceulemans; B. Dan; N. Nagan; J. Kassubek; S. Klimpe; T. Klopstock; H. Stolze; H. J. M. Smeets; C. T. R. M. Schrander-Stumpel; M. Hutchinson; B. P. Van De Warrenburg; C. Braastad; T. Deufel; M. Pericak-Vance; L. Schols; P. De Jonghe; S. Zuchner

  [Preview] [Read]