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Genetics

120 posts
  • 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…
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  • 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.
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  • 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…
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  • 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…
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  • 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…
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  • 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…
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  • 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.…
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  • 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.
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  • 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…
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  • 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…
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  • 3 min
  • This content is machine translated Guest article by the Foundation for People with Rare Diseases

The increasing importance of genetics in medicine

In medicine, one must think of the possibility of a genetic effect. Familiarity may be indicative, but genetic diseases also occur sporadically. With state-of-the-art high-throughput sequencing, diagnoses can now be…

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