Approximately one out of six reproductive-aged couples are affected by infertility worldwide. Over time, various assisted reproductive technologies (ART) have evolved, helping couples to overcome fertility problems. Currently, in vitro fertilisation (IVF) and intracytoplasmic sperm injection (ICSI) are the most frequently used ART because of their high success rates. Nevertheless, …

Epilepsy is one of the most common neurological disorders, with one in three epilepsy patients being diagnosed with refractory epilepsy. A diagnosis of refractory epilepsy is made when two or more types of anti-seizure medication (ASM) have been tried and have failed to control the seizures. In such cases, the …

Mitochondrial disorders, caused by mutations in mitochondrial (mt)DNA, affect 1 in 4,300 individuals and can cause severe symptoms such as muscle pain, developmental delays, and vision problems. MtDNA disorders are maternally inherited, meaning that mtDNA mutations are passed from a mother to all her children. There are some options for …

Developing a screening method for 196 doping compounds using dried blood spots (DBS), Tasso, and Volumetric Absorptive Microsampling (VAMS) instead of traditional urine testing has significant societal impacts. This advancement addresses a critical gap in anti-doping measures, where athletes can misuse pharmaceutical drugs as performance enhancers without immediate detection. Effective …

Approximately 2 million Achilles tendon sports-related injuries are diagnosed yearly of which over 250,000 require surgical intervention. During the healing process, after this surgical repair, the formation of scar tissue will dominate over well-aligned collagen fibers found at the native attachment. This scar tissue is weaker than the native tissue …

A significant health concern globally is the widespread lack of vitamin D, especially among individuals struggling with obesity. However, the reasons for this deficiency in obese individuals and the effects of weight loss, particularly through bariatric surgery, are not fully understood. Therefore, our study aims to clarify these matters. We …

1. Summary BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disease characterized by progressive muscle wasting and early death. Inflammation, muscle necrosis and fibrosis form the main pathological manifestations, but impaired mitophagy is also linked with DMD. Molecular therapies are entering the clinic, yet are not able to cure …

1. Summary Background: Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disorder, characterized by progressive muscle degeneration and lowered life expectancy (30-40 years) due to mutations in the DMD gene. Impaired mitophagy has been discovered to be a major contributor to the disease progression, becoming the therapeutic target in …

The prevalence of metabolic dysfunction-associated fatty liver disease (MAFLD) is rapidly rising in several regions worldwide, fueled by sedentary lifestyles, unhealthy dietary habits, and escalating obesity rates. This condition, characterized by the accumulation of fat in the liver, not only poses significant toll on individual health and well-being but also …

Despite extensive research, standard treatment for Marfan syndrome (MFS) is mainly limited to slowing down thoracic aortic aneurysm (TAA) progression by administering beta-blockers and/or angiotensin receptor blockers (ARBs). When indicated prophylactic aortic root surgery can be performed to lower the chance of dissection and potentially lethal rupture of the aorta. …