This content is machine translated Ehlers-Danlos syndrome When the connective tissue does not hold Ehlers-Danlos syndrome (EDS) is a group of congenital disorders of collagen synthesis. It occurs in about 1:5000 to 1:10,000 people and is about equally common in both sexes. There are…
View Post 10 min This content is machine translated Hypertrophic cardiomyopathy (HCM) Genetics and risk stratification for sudden cardiac death. Hypertrophic cardiomyopathy (HCM) is the most common hereditary heart muscle disease. The clinical picture ranges from asymptomatic patients to manifest heart failure and sudden cardiac death (SCD). The mainstay of…
View Post 7 min This content is machine translated Case report: Huntington's disease An “orphan disease” from a psychiatric perspective. Psychiatric symptoms are a crucial aspect of Huntington’s disease. An overview of symptom assessment and treatment options.
View Post 1 min This content is machine translated SGPP Annual Congress 2017 - Keynote Basel: New therapeutic approaches thanks to psychiatric epigenetics Prof. Papassotiropoulos presents intriguing new approaches to pharmacotherapy of psychiatric disorders. He talks about the use of genomic and epigenomic information in conjunction with new bioinformatics methods and the analysis…
View Post 21 min This content is machine translated Personalized therapy for psychotropic drugs Basics and practical hints for pharmacogenetic tests A summary of the current situation of pharmacogenetics in psychiatry – with practical advice for its application, as a revision of the analysis list has come into force since the…
View Post 7 min This content is machine translated Cystic fibrosis A “childhood disease” has grown up Improvements in disease management increase the quality of life and life expectancy of patients with cystic fibrosis. Newborn screening, introduced in 2011, enables early diagnosis. However, the disease should also…
View Post 9 min This content is machine translated Adjuvant system therapy of breast carcinoma Current standards of adjuvant therapy according to tumor subtype Adjuvant systemic treatment improves survival and freedom from recurrence in early breast cancer. Genetic testing of the tumor can help in the choice of therapy. Supportive monitoring is useful even…
View Post 8 min This content is machine translated Human Genetics Genetic testing in medicine – an update With state-of-the-art genetic testing, diagnoses can now be made that would otherwise not be possible. In addition, genetic clarification has significance for family counseling as well as for pharmacological treatment.…
View Post 2 min This content is machine translated Autoimmune encephalitis Study of association with HLA genetic type. To date, it is unclear whether autoimmune encephalitites caused by LGI-1 or NMDA antibodies have a genetic basis. Therefore, the association with HLA genetic type was investigated in this study.
View Post 7 min This content is machine translated Sentinel function of the P-glycoprotein The ABCB1 test for optimizing therapy with antidepressants Overcoming the blood-brain barrier is an important prerequisite for the efficacy of antidepressants. The essential component of the blood-brain barrier is the P-glycoprotein, which is encoded by the ABCB1 gene…
View Post 2 min This content is machine translated Liquid biopsy Blood instead of tissue For tumors where classical tissue biopsy (e.g. fine needle aspiration) is difficult or involves considerable risk, liquid biopsy, i.e. the analysis of mutated genetic material via blood, offers a promising…
