Familial disorders of plasma apolipoproteins

1985 ◽  
Vol 63 (11) ◽  
pp. 481-489 ◽  
Author(s):  
C. R. Sirtori ◽  
G. Franceschini
Keyword(s):  
Familial Disorders

scholarly journals “If He Has it, We Know What to Do”: Parent Perspectives on Familial Risk for Autism Spectrum Disorder

2019 ◽  
Vol 45 (2) ◽  
pp. 121-130 ◽  
Author(s):  
Katherine E MacDuffie ◽  
Lauren Turner-Brown ◽  
Annette M Estes ◽  
Benjamin S Wilfond ◽  
Stephen R Dager ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Perceived Risk ◽  
Risk Perceptions ◽  
Familial Risk ◽  
Predictive Testing ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Increased Risk ◽  
Brain And Behavior ◽  
Familial Disorders

Abstract Objective Predictive testing for familial disorders can guide healthcare and reproductive decisions. Familial disorders with onset in childhood (e.g., autism spectrum disorder [ASD]) are promising targets for presymptomatic prediction; however, little is known about parent perceptions of risk to their children in the presymptomatic period. The current study examined risk perceptions in parents of infants at high familial risk for ASD enrolled in a longitudinal study of brain and behavior development. Methods Semistructured interviews were conducted with 37 parents of high-risk infants during the presymptomatic window (3–15 months) that precedes an ASD diagnosis. Infants were identified as high familial risk due to having an older sibling with ASD. Parent interview responses were coded and interpreted to distill emerging themes. Results The majority of parents were aware of the increased risk of ASD for their infants, and risk perceptions were influenced by comparisons to their older child with ASD. Parents reported a variety of negative emotions in response to perceived risk, including worry, fear, and sadness, and described impacts of perceived risk on their behavior: increased vigilance to emerging symptoms, altered reproductive and healthcare decisions, and seeking ongoing assessment through research. Conclusions Parents of children at high familial risk for childhood-onset disorders like ASD face a period of challenging uncertainty during early development. In anticipation of a future in which presymptomatic testing for ASD is made available, it is important to understand how parents react to and cope with the elevated—but still highly uncertain—risk conveyed by family history.

Familial disorders of parathyroid glands

2017 ◽  
Vol 23 (8) ◽  
pp. 359-365
Author(s):  
Lori A. Erickson
Keyword(s):  
Parathyroid Glands ◽  
Familial Disorders

scholarly journals Familial Disorders of the Optic Disc: Presentation of a Mother and Daughter and Review of the Literature

2015 ◽  
Vol 6 (2) ◽  
pp. 251-259
Author(s):  
Chia Lee Hsu ◽  
Christopher J. Layton
Keyword(s):  
Optic Nerve ◽  
Optic Disc ◽  
Autosomal Dominant ◽  
Optic Disc Pit ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Mother And Daughter ◽  
Dominant Disease ◽  
Familial Disorders ◽  
Optic Nerve Coloboma

Optic disc pit and optic nerve coloboma are examples of congenital optic disc abnormalities. Although optic nerve coloboma can be inherited in an autosomal dominant fashion, no conclusive link has been found in the case of optic disc pit as an autosomal dominant disease. We describe two cases: a daughter with an optic disc pit complicated by maculopathy and her mother with a congenitally abnormal optic disc complicated by peripapillary choroidal neovascularisation.

GENETICS SOCIETY OF CANADA AWARD OF EXCELLENCE LECTURE: THE GENETICS OF COMMON FAMILIAL DISORDERS — MAJOR GENES OR MULTIFACTORIAL?

1981 ◽  
Vol 23 (1) ◽  
pp. 1-8 ◽  
Author(s):  
F. C. Fraser
Keyword(s):  
Mathematical Models ◽  
Threshold Model ◽  
Genetic Component ◽  
Pharmacological Agent ◽  
Major Genes ◽  
Predisposing Genes ◽  
The Common ◽  
Low Levels ◽  
Therapeutic Doses ◽  
Familial Disorders

The common familial disorders were, until recently, neglected by geneticists because their familial distributions did not neatly fit the Mendelian mold, and no specific genes could be identified. The multifactorial-threshold model made the familial characteristics of these disorders more intelligible. Although it originally postulated a polygenic genetic component the model can also accommodate one or more major genes with low penetrance. The resulting upsurge of interest has led to (1) the development of increasingly sophisticated mathematical models from which to calculate recurrence risks for specific family situations and (2) the identification of specific predisposing genes in a number of such disorders. One of the corollaries of the model is that any pharmacological agent at therapeutic doses is likely to be teratogenic to at least some embryos, so that regulation should be in terms of "acceptably low" levels of teratogenicity rather than "safety".

scholarly journals Genetic research on rare familial disorders: consent and the blurred boundaries between clinical service and research

2008 ◽  
Vol 34 (9) ◽  
pp. 690-694 ◽  
Author(s):  
M Ponder ◽  
H Statham ◽  
N Hallowell ◽  
J A Moon ◽  
M Richards ◽  
...  
Keyword(s):  
Genetic Research ◽  
Clinical Service ◽  
Familial Disorders

On effects of relaxed selection in familial disorders

1978 ◽  
Vol 41 (4) ◽  
pp. 481-489 ◽  
Author(s):  
A. M. DAVIE ◽  
C. SMITH ◽  
R. N. CURNOW ◽  
S. M. HOLLOWAY
Keyword(s):  
Relaxed Selection ◽  
Familial Disorders
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