- Artificial intelligence has been shown to have good predictive value for the malignant potential of gastrointestinal stromal tumors.
- A team of physicians presented a case study of an infant diagnosed with primary carnitine deficiency, a long chain fatty acid oxidation disorder.
- A pulmonary fibrosis foundation and a professional medical association have teamed up to slash the time it takes to diagnose idiopathic pulmonary fibrosis.
- Researchers are increasingly exploring the potential of gene therapy in treating respiratory diseases.
- The difficulty in diagnosing hereditary angioedema lies in the variability of its phenotype. An initial misdiagnosis is not uncommon.
- Medical researchers reported on epidemiological data concerning cystic fibrosis, yielding new insights on how to improve clinical outcomes.
- An updated set of clinical practice guidelines has been issued for the diagnosis and treatment of idiopathic pulmonary fibrosis in adults.
- Researchers are conducting research into DMD on multiple fronts, including identifying crucial biomarkers to track disease progression.
- Multidisciplinary cooperation is a key part of treating Alagille syndrome, which can affect various systems in the body.
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The complement system plays an important role in the etiology of many autoimmune diseases, including cold agglutinin disease (CAD), a subset of autoimmune hemolytic anemia. In CAD, auto-antibodies start to react at low temperatures, causing hemolysis and giving rise to clinical symptoms such as fever, dark urine, and flank pain. Scientists are taking a closer…
The great sting when it comes to chronic illnesses such as hemophilia is arguably their unpredictable nature. Before factor replacement therapy was discovered, every waking day for a patient with hemophilia was a roll of the dice. Patients can get injured by something as simple as knocking one’s knee against a bed frame. The bleeding…
Systemic mastocytosis is a subset of mastocytosis, which also includes cutaneous mastocytosis and mast cell sarcoma. Mastocytosis has been linked to somatic gain-of-function mutations of the c-KIT gene. KIT is a tyrosine kinase receptor that plays an important role in regulating the normal proliferation, maturation, adhesion, and chemotaxis of mast cells. Mast cell density has…
Research on gene therapy has become increasingly prominent in recent years, and the trajectory is expected to continue. Since the Human Genome Project was completed a few decades ago, the collective imagination of scientists and physicians worldwide has been ignited by the possibilities that gene therapy opens up. Gene therapy offers the tantalizing prospect of…
Gastrointestinal stromal tumor (GIST) is the most common gastrointestinal cancer of mesenchymal origin. It is mostly driven by oncogenic KIT and PDGFRA gain-of-function mutations. This disease is most prevalent among adults aged between 60 and 65 years. There are a number of possible treatment strategies for patients with advanced GIST. Surgery is the treatment of…
A key change in the recently published 5th edition of the WHO Classification of Endocrine and Neuroendocrine Tumors was the subdivision of thyroid tumors into new categories that more clearly reflect their cell of origin, molecular classification, cytopathological and histopathological features, and biological behaviors. With regards to medullary thyroid carcinoma (MTC), “the most important update…