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 ...

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. ...

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 ...

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.

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

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 ...

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 ...

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 ...

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 ...

The patients was positive for anti-aquaporin-4 (AQP4) antibodies, based on which she was diagnosed with NMOSD. A new case study published in the journal Chest highlights the challenges associated with ...