The mutated transthyretin accumulates more in the heart and the peripheral nervous system than in other organs, which is why ATTR is considered a multisystem disorder. The initial presentation in 6 of ...

Taylor Kane is executive director of Remember the Girls, a nonprofit group that advocates on behalf of females with X-linked disorders (Photo courtesy of Taylor Kane) New Jersey native Taylor Kane ...

Researchers found that the accumulation of C1-inhibitors in cells could lead to specific intracellular changes prior to the manifestation of HAE. Researchers proposed in a study published in the ...

The primary goal of the phase 1 trial is to assess the safety and tolerability of ADI-001. Secondary measures will examine cellular kinetics, pharmacodynamics, and disease activity scores. The phase 1 ...

The rate of surgery for spinal stenosis is 21.5%, and the risk of revision is 37.5% in patients with achondroplasia, according to a new study published in the Journal of Pediatric Orthopaedics.

The authors aimed to optimize the derivatization process of gas chromatography-mass spectrometry (GC-MS) untargeted metabolomics . Standardized conditions for methoximation and silylation could ...

Despite continuous effort, no autoantibodies associated with CIDP have been identified. A new article published in the journal Revue Neurologique reviewed the different methods used to detect ...

While evidence-based data are not available, collating and sharing expert opinion is a vital way of providing support and guidance to the clinical community. Without evidence-based data on the ...

Researchers present case reports of patients diagnosed with AAV shortly after a bout of COVID-19 infection. In Clinical Case Reports, Filoramo and colleagues presented the case study of a patient who ...

Wilfredo Hernández and Grisele Mendez with their 20-year-old son Alejandro, who has Duchenne. The family relocated from Puerto Rico to Atlanta, Georgia, so Alejandro could enroll in a clinical trial. ...

Which of the statements below about the prognosis of systemic mastocytosis (SM) are correct? Select one of the options for each question, then submit your answers to see how well you scored and how ...

Few procedure-related complications were observed, and gestational age at birth was a median of 37 weeks. A new study of pregnancies with red blood cell alloimmunization, which are at risk of ...