Hereditary Breast and Ovarian Cancer (HBOC) typically arises from mutations inherited in the germline. BRCA1 and BRCA2 mutaions are predominant contributors to HBOC, accounting for the majority of cases. These mutations are associated with 10% of ovarian cancer cases and 3-5% of breast cancer cases [4]. BRCA1 …

Arrhythmogenic Cardiomyopathy (ACM), also known as arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a rare hereditary disease of the heart, where the connective, and fatty tissue is deposited in the muscle tissue of the ventricular myocardium primarily of the right but also left …

Dogs are considered humans’ best friend, but this relationship is not all puppies and sunshine. Zoonoses, biting incidents, hereditary problems, and other welfare issues can threaten the relationship, especially when humans are not aware of them. Public opinion on dogs in the densely populated Netherlands …

5% to 10% of all cancers are linked to gene mutations inherited from parents. The most common gene related to hereditary cancer is the p53 gene. It is a crucial tumor suppressor. However, the mutated gene is commonly inherited from one generation to another one. The functions of p53 resume to the activation …

Zoonoses, biting incidents, hereditary problems, and other issues can threaten the welfare of both humans and dogs. The Dutch government and animal welfare organizations seem to have little effect in their campaigns to influence the behavior of (potential) dog keepers, who can experience dissonance when …

Background We aimed to identify healthcare needs, expectations, utilization, and the experienced treatment effects in a population of Dutch patients with hereditary spastic paraplegia (HSP). Methods We distributed an online questionnaire among 194 adult persons with HSP in the Netherlands, of which 166 …

Background: Infantile hereditary proximal spinal muscular atrophy (SMA) type 1 is characterized by onset in the first 6 months of life and severe and progressive muscle weakness. Dysphagia is a common complication but has not been studied in detail. Objective: To study feeding and swallowing problems …

Background Hereditary spastic paraplegia (HSP) is a group of inherited disorders characterized by progressive spastic paresis of the lower limbs. Treatment is often focused on reducing spasticity and its physical consequences. To better address individual patients' needs, we investigated a broad range …

Introduction: Neuromuscular diseases (NMD) are a heterogeneous group of acquired or inherited diseases affecting the peripheral nervous system and muscle mass. The consequences of NMD are loss of muscle mass, function, and posture. Loss of muscle mass causes weakness, a decrease in mobility and cardiac …