Hereditary heart diseases are typically characterized by autosomal dominant inheritance and delayed cardiac expression. Predictive genetic testing is offered to asymptomatic relatives to allow targeted medical care with early therapeutics in order to reduce the risk of complications (sudden death, heart ...
LMNA-DCM is highly penetrant, adult-onset, malignant, and autosomal dominant, which is one of the most aggressive and lethal heart diseases [6, 7]. The clinical management strategies for LMNA-DCM are identical to other cardiomyopathies or heart failure. These approaches include symptomatic and ...
Because of these clinical features, the differ- ential diagnosis of infants with kyphoscoliotic EDS may ini- tially include congenital muscular dystrophies, congenital my- opathies, and lower motor neuron diseases. Adolescents with this form of EDS may present with generalized muscle weak- ness ...
(the disorders discussed here). Also, the nerve biopsy may allow for identification of interstitial abnormalities (e.g.,microvesseldisease, includingvasculitis, amyloidosis, and others); such process can be primary in the pathogenesis or additive to disability or impairments in inherite...
Despite increased awareness and availability of genetic testing for hereditary breast and ovarian cancer (HBOC) syndrome for over 20 years, there is still significant underuse of cascade genetic testing among at-risk relatives. This scoping review synthesized evidence regarding psychosocial barriers and ...
Alnylam Pharmaceuticals(Nasdaq: ALNY) has led the translation of RNA interference (RNAi) into a whole new class of innovative medicines with the potential to transform the lives of people afflicted with rare and prevalent diseases with unmet need. Based on Nobel Prize-winning science, RNAi therapeu...
1 Because these diseases have a genetic component, one approach is to use inherited DNA variation to stratify the population. The United States Centers for Disease Control and Prevention has identified 3 tier-1 genomic conditions in which genetic testing to identify carriers of a pathogenic variant...
The concordance between the amyloid proteomes from different tissues of three D25V-carriers of this family, and the fact that no other amyloid-associated proteins were found in the heart except the mutated apoC-III clearly demonstrated that the mutated apoC-III was the amyloid fibril protein. ...
family health history is widely integrated in the risk assessment of common chronic diseases, and it has been shown that an individual’s risk is proportional to the number of relatives affected by the disease5. While for some diseases, such as hereditary breast and ovarian cancer, the risk ca...
Studies in which the subjects discussed presented with abnormal cutaneous findings due to other proven diseases (e.g., acanthosis nigricans due to diabetes mellitus) were also excluded. A flowchart of the search strategy is shown in Figure 1. Figure 1. Article selection. 3. Various Types of ...