Pre-existing conditions and the individual mandate 1
Phelps Charles E, Parente Stephen T in The Economics of US Health Care Policy, 2017
When genetically-related diseases actually emerge, pre-existing condition exclusions may make many of them uninsurable. Some of these are known because of strong familial links. One form of such genetic diseases can be passed from either parent that carries the gene—an autosomal dominant disorder. Humans receive two copies of each gene—one from the mother and one from the father. With autosomal dominant diseases, if either parent carries the genetic code for the disease, each child has a 50% chance of becoming afflicted with the disorder. (The odds go up to three out of four if both parents carry the disorder.) These diseases include a variety of neurologic disorders, some cancers (breast and colon most notably), some cardiac diseases and some skeletal disorders. Geneticists estimate that seven persons per 1000 are affected by an autosomal dominant disorder. Some common autosomal dominant disorders (and their risks of occurrence) include:
Single Best Answer Questions
Vivian A. Elwell, Jonathan M. Fishman, Rajat Chowdhury in SBAs for the MRCS Part A, 2018
A disease inherited as an autosomal dominant disorder:Requires that both parents carry the abnormalityUsually prevents reproductionAffects males and females equallyAffects all the children of the affected adultMay be transmitted by a carrier who does not manifest the disease
Integumentary system
Aida Lai in Essential Concepts in Anatomy and Pathology for Undergraduate Revision, 2018
= disorder of connective tissue Autosomal dominant disorderClinical features: – dislocated lenses– long arms, legs and fingers– mitral valve prolapse– aortic aneurysm– aortic dissection– tall thin bodyInvestigations: – CXR (aortic aneurysm)– echocardiogram (mitral regurgitation)Management: – beta-blockers– aortic root replacement
Double decentred lenses in an eye: a therapeutic dilemma in Marfan syndrome
Published in Clinical and Experimental Optometry, 2020
Wei‐shan Tsai, Yuan‐chieh Lee, Fang‐ling Chang, Ming‐shan He
Marfan syndrome occurs in one in 5,000 children. It is an autosomal dominant disorder that mainly affects the connective tissue. It is caused by the mutation of the fibrillin‐1 gene (FBN1) and subsequently results in elastic fibre malformation.1991 Ectopia lentis was found to be the most common ocular complication, which significantly affects vision.2017 The abnormal fibrillin‐related loose zonules in Marfan syndrome allow the crystalline lens to become more spherical and to decentre relative to the visual axis. Typically, the most common refractive error in Marfan syndrome is high myopia resulting from microspherophakia and longer axial length. The patient in this case received bilateral anterior chamber intraocular lens implantation at another clinic to correct her high myopia. Nevertheless, an anterior chamber intraocular lens implantation in a patient with Marfan syndrome may have a higher risk of intraocular lens decentring due to the unusually deep and large anterior chamber anatomy. Diplopia occurred when the light was bisected simultaneously by the subluxated natural lens and the decentred anterior chamber intraocular lens. Thus, a phenomenon of ‘double decentred lenses in an eye’ was observed in our patient. Therefore anterior chamber intraocular lens implantation alone without removal of the subluxated natural lens may not be sufficient to treat patients with Marfan syndrome.
Personal Utility and Early Intervention in Alzheimer’s Disease
Published in AJOB Neuroscience, 2021
Ana M. Tyler, Jennifer S. Yokoyama, Jalayne J. Arias
These factors informed the model for genetic testing in HD, which might provide a relevant example. Like the current state of AD, there are no evidence-based disease-modifying therapies for HD. HD, however, only presents as an autosomal dominant disorder. AD, on the other hand, has rare familial forms inherited in an autosomal dominant fashion, but the most common form is late-onset and non-familial. Non-familial AD risk is multifactorial and, although genetic risk variant APOE e4 increases AD risk 2–10-fold, there are no genetic determinants of late-onset AD. Prenatal testing is an option for would-be parents concerned about HD; in considering prenatal predictive tools for familial AD only, the authors’ concerns with respect to pregnancy termination are valid. However, there is a very clear difference in risk assessment via biomarkers for late-onset, non-familial disease versus inherited autosomal dominant disease genetic screening, the nuances of which are not elucidated by McKeown et al.
Mutation Survey of Candidate Genes and Genotype–Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld–Rieger Syndrome
Published in Current Eye Research, 2018
Xun Wang, Xing Liu, Liqin Huang, Shaohua Fang, Xiaoyun Jia, Xueshan Xiao, Shiqiang Li, Xiangming Guo
Detailed family histories and clinical data were analyzed in all 20 probands (nine female and 11 male patients) with ARS. All probands were of the Han population and came from the Southeastern part of China (Figure S1 in Supplementary Material). Two of these patients had a clear family history showing autosomal dominance, four patients were sporadic cases, and the remaining 14 probands were singletons. Unilateral or bilateral secondary glaucoma developed in 85.0% of the probands (17/20). The ages of these patients ranged from 3 months to 39.6 years old, and 70.6% (12/17) developed glaucoma before reaching 10 years old. Of the patients harboring PITX2 mutations, 81.8% (9/11) developed unilateral or bilateral glaucoma before reaching 10 years old. Their median onset age of glaucoma was 5 years old (ranging from 6 months to 39.6 years old). In patients without candidate mutations detected in PITX2, FOXC1, and PRDM5, 33.3% (3/9) developed glaucoma before 10 years old. The median onset age for glaucoma was 10 years old (ranging from 2 years 5 months to 38.9 years old). There was a significant difference in the prevalence of early onset glaucoma (< 10 years old) between the two groups (P = 0.0399).