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The management of cystic fibrosis

Sam H. Ahmedzai and Martin F. Muers

in Supportive Care in Respiratory Disease

Published in print:
2005
Published Online:
November 2011
ISBN:
9780192631411
eISBN:
9780191730160
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780192631411.003.0025
Subject:
Palliative Care, Patient Care and End-of-Life Decision Making, Pain Management and Palliative Pharmacology

This chapter examines the management of cystic fibrosis, a multisystem disorder characterised by chronic airway infection, malnutrition, and premature death. Management of late-stage disease may be ... More


Newborn screening for cystic fibrosis: A paradigm for public health genetics policy development

Philip M. Farrell, Michael R. Kosorok, Michael J. Rock, Anita Laxova, Lan Zeng, Gary Hoffman, Ronald H. Laessig, and Mark L. Splaingard

in Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease

Published in print:
2000
Published Online:
September 2009
ISBN:
9780195128307
eISBN:
9780199864485
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195128307.003.0021
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

This chapter illustrates how scientific studies can be used to facilitate public health policy decisions, particularly those concerned with newborn screening programs. More specifically, it reviews ... More


Supportive care in cystic fibrosis

Andrew Clayton

in Supportive Care in Respiratory Disease

Published in print:
2012
Published Online:
May 2012
ISBN:
9780199591763
eISBN:
9780191739149
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199591763.003.0019
Subject:
Palliative Care, Patient Care and End-of-Life Decision Making

Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasian populations affecting approximately 1 in 2500 live births. It's most striking clinical feature is progressive lung ... More


Cystic fibrosis

David J. H. Brock

in Antenatal and Neonatal Screening

Published in print:
2000
Published Online:
September 2009
ISBN:
9780192628268
eISBN:
9780191723605
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780192628268.003.0013
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

This chapter describes screening and diagnosis for cystic fibrosis (CF). CF is the most common life-shortening Mendelian disorder found in children and in young adults of Caucasian descent. It is ... More


Vertical Transmission of Infectious Diseases and Genetic Disorders

Margaret P. Battin, Leslie P. Francis, Jay A. Jacobson, and Charles B. Smith

in The Patient as Victim and Vector: Ethics and Infectious Disease

Published in print:
2009
Published Online:
May 2009
ISBN:
9780195335842
eISBN:
9780199868926
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195335842.003.0011
Subject:
Philosophy, General

Infectious diseases and genetic conditions are both transmitted “vertically” from a pregnant woman to the child she bears. Most U.S. states require routine screening of women for syphilis during ... More


Assessing the evidence for clinical utility in newborn screening

Scott D. Grosse

in Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

Published in print:
2009
Published Online:
May 2010
ISBN:
9780195398441
eISBN:
9780199776023
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195398441.003.0026
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

This chapter outlines key methodological issues in collecting and analyzing data on outcomes in individuals with genetic disorders that are candidates for inclusion in screening panels, and reviews ... More


Finding genes and specific genetic variants responsible for disease

Julian C. Knight

in Human Genetic Diversity: Functional Consequences for Health and Disease

Published in print:
2009
Published Online:
September 2009
ISBN:
9780199227693
eISBN:
9780191711015
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199227693.003.0002
Subject:
Biology, Evolutionary Biology / Genetics, Disease Ecology / Epidemiology

In this chapter different approaches to defining the genetic basis of disease are introduced including linkage analysis, positional cloning, linkage disequilibrium mapping and genetic association ... More


Cystic fibrosis

Robert L. Perlman

in Evolution and Medicine

Published in print:
2013
Published Online:
December 2013
ISBN:
9780199661718
eISBN:
9780191774720
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199661718.003.0004
Subject:
Biology, Evolutionary Biology / Genetics

Cystic fibrosis, the most common severe autosomal recessive disease affecting Caucasian populations, illustrates many important concepts about the relationship between genes and disease. The Cystic ... More


Cystic Fibrosis and Bronchopulmonary Dysplasia

Christina C. Lewis, Gary McPhail, and Elisabeth Luder

in Pediatric and Adult Nutrition in Chronic Diseases, Developmental Disabilities, and Hereditary Metabolic Disorders: Prevention, Assessment, and Treatment

Published in print:
2017
Published Online:
April 2017
ISBN:
9780199398911
eISBN:
9780199398942
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199398911.003.0055
Subject:
Public Health and Epidemiology, Public Health

This chapter discusses cystic fibrosis and bronchopulmonary dysplasia, including factors to be considered in nutritional and clinical evaluation, nutritional management, and follow-up care.


Balancing Selection and Disease

Norman A. Johnson

in Darwinian Detectives: Revealing the Natural History of Genes and Genomes

Published in print:
2007
Published Online:
September 2007
ISBN:
9780195306750
eISBN:
9780199790203
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195306750.003.0005
Subject:
Biology, Evolutionary Biology / Genetics

Some forms of selection, called “balancing selection” can maintain variation. Human beta-hemoglobin is an example of a gene under balancing selection. Individuals having two copies of the sickle ... More


Consanguineous Connectivity

Marcia C. Inhorn

in The New Arab Man: Emergent Masculinities, Technologies, and Islam in the Middle East

Published in print:
2012
Published Online:
October 2017
ISBN:
9780691148885
eISBN:
9781400842629
Item type:
chapter
Publisher:
Princeton University Press
DOI:
10.23943/princeton/9780691148885.003.0005
Subject:
Anthropology, Social and Cultural Anthropology

This chapter illustrates Abbas' story which speaks to the importance of family—not only Abbas' desire to create a family of his own but also the support he receives from his natal family members. ... More


Asthma and Cystic Fibrosis

Robert Hilt and Alison Leary

in Cognitive and Behavioral Abnormalities of Pediatric Diseases

Published in print:
2010
Published Online:
November 2020
ISBN:
9780195342680
eISBN:
9780197562598
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/oso/9780195342680.003.0059
Subject:
Clinical Medicine and Allied Health, Psychiatry

Asthma and cystic fibrosis (CF) are examples of childhood pulmonary illnesses with significant psychological impacts. These disorders have in common an induced difficulty with a primal drive, the ... More


The Molecular Basis of Variation and Inheritance

Peter Gluckman, Alan Beedle, Tatjana Buklijas, Felicia Low, and Mark Hanson

in Principles of Evolutionary Medicine

Published in print:
2016
Published Online:
May 2016
ISBN:
9780199663927
eISBN:
9780191823206
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199663927.003.0003
Subject:
Biology, Evolutionary Biology / Genetics

The human genome varies by about 0.5% between individuals as a result of single nucleotide polymorphisms and insertions, deletions, inversions, and duplications of longer sequences. Patterns of ... More


Bronchiectasis

Caroline Patterson and Meg Coleman

in Revision Notes for the Respiratory Medicine Specialty Certificate Examination

Published in print:
2012
Published Online:
November 2020
ISBN:
9780199693481
eISBN:
9780191918407
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/oso/9780199693481.003.0009
Subject:
Clinical Medicine and Allied Health, Professional Development in Medicine

Bronchiectasis Causes of bronchiectasis Idiopathic (approximately 50%). Post-infective: Klebsiella, S. aureus, Mycoplasma, MTB, non-tuberculous mycobacterium (NTM) including MAC, viral respiratory ... More


Commentary: Therapy, Enhancement, and Eugenics

D. Gareth Jones

in The Future of Bioethics: International Dialogues

Published in print:
2014
Published Online:
January 2014
ISBN:
9780199682676
eISBN:
9780191763168
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199682676.003.0019
Subject:
Philosophy, Moral Philosophy

Enhancement encompasses many procedures, but frequently one does not know what counts as therapy, and therefore are unclear when one is moving into enhancement. To address this issue the role of ... More


Best of Five Answers

Caroline Patterson and Meg Coleman

in Revision Notes for the Respiratory Medicine Specialty Certificate Examination

Published in print:
2012
Published Online:
November 2020
ISBN:
9780199693481
eISBN:
9780191918407
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/oso/9780199693481.003.0020
Subject:
Clinical Medicine and Allied Health, Professional Development in Medicine

D. Mycoplasma, Chlamydia, and (variably) Leigonella are considered atypical pathogens in pneumonia. All may cause a ‘flu like illness followed by a dry cough. Features of Mycoplasma include ... More


School-Based Health Services

Neverly A. Colon

in Community Schools in Action: Lessons from a Decade of Practice

Published in print:
2005
Published Online:
November 2020
ISBN:
9780195169591
eISBN:
9780197562178
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/oso/9780195169591.003.0017
Subject:
Education, Schools Studies

In order to be successful in school, children must be able to see and hear and must be free of troubling health problems. Our experience with community schools confirms the idea that locating ... More


Day surgery, preoperative assessment, gynaecology, urology, and plastics

Caroline Whymark, Ross Junkin, and Judith Ramsey

in SBAs for the Final FRCA

Published in print:
2019
Published Online:
November 2020
ISBN:
9780198803294
eISBN:
9780191917172
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/oso/9780198803294.003.0010
Subject:
Clinical Medicine and Allied Health, Professional Development in Medicine

To pass the written part of the FRCA, candidates must achieve the pass mark for the SAQs and the MCQ/ SBA papers combined. Therefore, doing particularly well in one paper, or one area, can ... More


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