- Five years after the approval of nusinersen (Spinraza®) for SMA, Adrian Krainer, PhD, is immensely proud of his role in developing the lifesaving drug.
- We explore various issues related to nephrotoxicity induced by tyrosine kinase inhibitors in patients with medullary thyroid carcinoma.
- We investigate the genetic correction strategies available for DMD patients today and assess their impact on the heart.
- Endothelial dysfunction is a prominent feature of pulmonary arterial hypertension. We explore the cause and effects of it.
- We explore the role of next-generation sequencing in providing a genetic diagnosis for infants with a cholestatic disease, such as Alagille syndrome or AATD.
- We compare the most common types of first-line immunosuppressants currently used to treat neuromyelitis optica spectrum disorder (NMOSD).
- We review a case report of a patient who was diagnosed with CAD associated with antiphospholipid syndrome, and explore the role of the complement system.
- We examine the relatively new prophylactic hemophilia A drug, efmoroctocog alfa, and how discuss the data on how well it works.
- Current estimates suggest that about half of patients with long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency may suffer from retinopathy.
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Rare Care Podcast
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Lysosomal acid lipase deficiency (LAL-D) is a rare disease that results in ectopic lipid accumulation in the body, especially in the liver, spleen, small intestine, blood, and adrenal glands. Given that unesterified cholesterol and fatty acids play an important role in bone metabolism, a team of scientists has proposed that LAL-D also significantly disrupts skeletal…
The COVID-19 pandemic has been regarded as a litmus test for our modern medical systems. One question it has raised is this: can our modern medical infrastructure cope with a fast-spreading, evasive virus, and do so in accordance with our high modern healthcare standards? There is no use claiming victory if we are only able…
A few centuries ago, if a patient complained of general maladies such as “fever” or “chest pain,” the physician could only guess at what was wrong and provide symptomatic relief (such as sponging down the fever and ensuring that the patient is eating and ambulating). We should not be too quick to dismiss the “guesses”…
Sigbjørn Berentsen, MD, PhD, is a consultant hematologist and senior researcher in the Department of Research and Innovation at Haugesund Hospital in Norway. He has authored a number of studies on autoimmune hemolytic anemia (AIHA), and its cold agglutinin disease (CAD) subtype. He is a respected expert on the subject in a field in which…
Carnitine-acylcarnitine translocase deficiency (CACTD) is a type of long chain fatty acid oxidation disorder (LCFAOD) characterized by severe cardiac dysfunction. It has the highest rate of cardiac arrhythmia and mortality among LCFAODs. Until recently, only 68 cases of CACTD had been reported in the literature. This number increased to 87 with a recent publication by…
There is a dilemma public health authorities face when it comes to disseminating information about COVID-19 vaccines. The goal here is to reassure as many people as possible that these vaccines are safe and potentially life-saving. However, we live in an age of disinformation, in which any real (or imaginary) issue can be blown out…