550 a. We recommend that adult patients diagnosed with autosomal dominant polycystic kidney disease are referred to their regional genetics service for genetic counseling if they are interested in and would like to discuss (2B) the following: i. Inheritance pattern and clarifying/communicating disease risk to family members ii. Molecular genetic testing (role, indication, and interpretation) ii...

BACKGROUND Counselees are more aware of genetics and seek information, reassurance, screening and genetic testing. Risk counseling is a key component of genetic counseling process helping patients to achieve a realistic view for their own personal risk and therefore adapt to the medical, psychological and familial implications of disease and to encourage the patient to make informed choices 12....

Some of the pioneers of human genetics across Europe are described, based on a series of 100 recorded interviews made by the author. These interviews, and the memories of earlier workers in the field recalled by interviewees, provide a vivid picture, albeit incomplete, of the early years of human and medical genetics. From small beginnings in the immediate post-World War 2 years, human genetics...

phenylketonuria (pku) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (pah) gene. pku has wide allelic heterogeneity. here we report a novel heterozygous substitution (c.1223g>t (p.arg408leu)) in the pah gene in an iranian pku family. the patient was 19-yr-old female with diagnosis of moderate...

PURPOSE To verify the perception of Brazilian ophthalmologists regarding the role played by Genetics in their routine medical activity and their conduct when dealing with patients, with hereditary diseases who need genetic counseling. METHODS A cross-sectional survey was conducted by means of invitations to participate in an interview on this subject. The questionnaires were sent to 200 ophth...

articles by Paula Hollerbach partially compensate for this deficit. Her careful and sensitive descriptions of psychological and other factors influencing a couple's reproductive goals and attitudes toward counseling, sterilization, artificial insemination, and selective abortion evoke empathy with and for the troubled couple. Next, John Pearn's "Decision-Making and Reproductive Choice" offers a...

the importance of genetic and congenital factors which cause many diseases and disabilities is obvious with a glance at the facts and figures in the world. in iran, like many other middle eastern countries, certain factors exist that worsen the situation such as: 1. high percentage of consanguineous marriages, 2. high incidence and prevalence of hemoglobinopathies (b-thalassemia & g6pd-d), 3. a...

the importance of genetic and congenital factors which causes many diseases and disabilities is obvious with a glance at the facts and figures in the world. in iran, like many other middle eastern countries, certain factors exist that worsen the situation, such as: 1. high percentage of consanguinous marriages, 2. high incidence and prevalence of hemoglobinopathies (ex. b-thalassemia & g6pd-d),...

MEDICAL SCIENCE IS A VICTIM OF ITS OWN SUCcess. Clinical and translational investigation has resulted in a bounty of relevant and specialized knowledge that is adopted into routine clinical use. While this 21st-century science is hurtling quickly into the clinical arena, the relative growth of clinicians in some specialized areas, who are facile in using 21st-century scientific knowledge to pra...

Individuals who are at risk because of their family history or concerned about the possibility of having an affected child based any reasons are seeking solution approaches. Nowadays genetic counseling offers hope to prevent from suffering some genetic diseases. Advances in genetics diagnosis testing have played effective role in this regards. Interestingly, Preimplantation Genetic Testing woul...