BIOCHEMICAL AND CLINICAL PENETRANCE OF INDIVIDUALS DIAGNOSED WITH HAEMOCHROMATOSIS BY PREDICTIVE GENETIC TESTING
- Disease Rarity, Carrier Status, and Gender: A Triple Disadvantage for Women with Fabry Disease. Regan Klatt; Jack Johnson; Joe Clarke // Journal of Genetic Counseling;Dec2008, Vol. 17 Issue 6, p528
AbstractÃ‚Â Ã‚Â Fabry disease is a multi-systemic X-linked genetic disorder which has progressive and deadly consequences for those it afflicts. Fabry disease symptoms are widely recognized as a substantive burden for affected males. In comparison, female heterozygotes have...
- The Clinical Features of Sclerosteosis. Beighton, Peter; Durr, Lecia; Hamersma, Herman // Annals of Internal Medicine;Apr76, Vol. 84 Issue 4, p393
Presents a study on the clinical manifestations of sclerosteosis, an autosomal recessive condition. Examination of sclerosteosis in patients from South Africa; General course and progression of the disease; Neurological manifestations of the disease.
- HEREDITARY PANCREATITIS. Wyllie, Robert // American Journal of Gastroenterology;Jul1997, Vol. 92 Issue 7, p1079
Focuses on the medical cases of hereditary pancreatitis. Information on the reported medical cases of hereditary pancreatitis; Diagnosis of hereditary pancreatitis; Signs and symptoms of the disease.
- Disease Dictionary. // Medical Update;2004, Vol. 29 Issue 8, p3
Looks at the Brugada syndrome, a genetic disorder of the heart's electrical system first identified in 1998. Symptoms; Diagnosis; Treatment.
- Marfan Syndrome: Diagnosis And Workup Of Cardiac Manifestations. Pahuja, Deepak // Internet Journal of Cardiology;2006, Vol. 3 Issue 1, p3
The article presents a research on marfan syndrome with reference to its diagnosis and its cardiac manifestations. It reflects that the disease prevalence is about 5 per 100,000. This genetic disorder is associated with the defects in the fibrillin-1 gene on chromosome 15. This syndrome is...
- Anesthetic Considerations for the Patient with Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome). Peiffer, Kathleen M. Z. // AANA Journal;Apr2009, Vol. 77 Issue 2, p115
Hereditary hemorrhagic telangiectasia (HHT), Osier Weber-Rendu Syndrome, is an uncommon disease but may be present in many people who remain undiagnosed. It is an autosomal dominant disorder characterized by multiple arteriovenous malformations (AVMs) and telangiectases that affect multiple...
- Recent advances in cystic fibrosis. Doull, Iolo J. M. // Archives of Disease in Childhood;Jul2001, Vol. 85 Issue 1, p62
The median life expectancy for cystic fibrosis is now over 30 years, and it is projected that in newborn infants it will become more than 40 years. The identification of the cystic fibrosis gene and its product, cystic fibrosis transmembrane conductance regulator (CFTR), has widened the spectrum...
- La fibrosis quÃstica en la actualidad (II): aspectos nutricionales. Aguirre, A. Sojo; García, C. Bousoño // Acta PediÃ¡trica EspaÃ±ola;ene2011, Vol. 69 Issue 1, p31
Chronic malnutrition has been a universal problem and at the present moment the nutritional monitoring and support are major and essential parts within the disease. Are the importance of an adequate nutritional state is well known and it is also known that it has an effect on the mortality, that...
- Statistical considerations for digital approaches to non-invasive fetal genotyping. Tianjiao Chu; Bunce, Kimberly; Hogge, W. Allen; Peters, David G. // Bioinformatics;Nov2010, Vol. 26 Issue 22, p2863
Motivation: A growing body of literature has demonstrated the potential for non-invasive diagnosis of a variety of human genetic diseases using cell-free DNA extracted from maternal plasma samples in early gestation. Such methods are of great significance to the obstetrics community because of...