Barth syndrome (BTHS) is an X-linked mitochondrial disease characterized by fatigue, skeletal muscle weakness, cardiomyopathy, neutropenia, and growth delay due to inherited TAFAZZIN enzyme mutations. BTHS is widely hypothesized in the literature to be a model of defective mitochondrial ATP production...
Barth syndrome is a mitochondrial disorder caused by tafazzin mutations that lead to abnormal cardiolipin profiles. Patients are afflicted by cardiomyopathy, skeletal myopathy, neutropenia, and growth delay. A mouse model of Barth syndrome was developed a decade ago, which relies on a doxycycline-...
What neural structures are affected by Barth syndrome? What brain regions belong to the midbrain? A. telencephalon B. optic tectum C. cerebrum D. medulla oblongata What is an anatomic shunt? What are phalanges and where are they on your body?
Irritable bowel syndrome (IBS) and inflammatory bowel disease (IBD) are two gastrointestinal disorders that can cause stomach pain and irregular bowel activity — and both conditions are thought to be worsened bystressand anxiety. However, a study cited byThe Harvard Gazettefound that a nine-week ...
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a novel virus responsible for the current coronavirus disease 2019 (COVID-19) pandemic, has infected over 3.5 million people all over the world since the first case was reported from Wuhan, China 5 months ago. As more epidemiologica...
Microsatellite instability CRC is associated to immunogenic TAAs: Microsatellite instability (MSI) is associated with CRC in patients with Lynch syndrome, but also with sporadic cancer, in particular in elderly patients, and is observed in 5% to 25% of CRC patients depending on tumor stage. MSI ...
Liver cell transplantation for Crigler-Najjar syndrome type I: update and perspectives. World J Gastroenterol. 2008;14:3464–70. Article PubMed PubMed Central Google Scholar Meyburg J, Das AM, Hoerster F, Lindner M, Kriegbaum H, Engelmann G, et al. One liver for four children: first ...
This response is believed to be prominent in at least some patients with complex regional pain syndrome (CRPS), but there is no evidence that it plays a prominent role in other pain states. Primary afferent neurons in the normal rat express alpha-adrenoceptors12 but do not respond to no...
Low energy availability (LEA), an inadequate balance between an athlete’s nutritional energy intake and the energy expended in exercise [64], is a relevant issue to diet and eating habits. It can give rise to a syndrome known as relative energy deficiency in sport (RED-S), resulting in ...
While published cases of Barth syndrome and Cartilage Hair Hypoplasia would be scored as "possible" or "likely affected" based on criteria by Bernier and colleagues, published cases of Omenn syndrome score as "unlikely affected" by a primary mitochondrial disorder Syndrome Gene Phenotype Bernier /imm...