Early AATD diagnosis is crucial to prevent progressive lung damage and associated pathologies. Patients with alpha-1 antitrypsin deficiency (AATD) should be screened for vascular pathology, according ...

Children with sickle cell disease are at higher risk of developing sleep-disordered breathing, which may increase morbidity. Hydroxyurea therapy for children with sickle cell disease (SCD) has been ...

Which of the statements below about the genetics of antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) are correct? Select one of the options for each question, then submit your ...

Researchers from Japan reported the case of a patient who was incidentally diagnosed with hereditary transthyretin amyloidosis (ATTR) during video-associated lung surgery to treat lung cancer. The ...

A systematic diagnostic approach should be used to differentiate AAV from multiple myeloma. An elderly patient who was initially suspected of having antineutrophil cytoplasmic antibody ...

The abnormal turnover and dynamics of mitochondria in skeletal muscles are associated with disease progression in spinal muscular atrophy (SMA) in a mouse model of the disease, according to a new ...

(Getty Images) The average American has 7.1 social media accounts, according to industry statistics. Yet while YouTube and TikTok are no substitutes for sound medical advice, doctors say there’s a ...

Developmental motor delay has frequently been reported as a risk factor for persistence of TLK, so postural control is crucial for attaining TLK resolution. Researchers in the Netherlands have ...

The patients had different genetic mutations as well as different cross-reactive immunologic material status and cMRI abnormalities. Pompe disease has various clinical presentations and leads to ...

A machine learning model identified 10 gene candidates that were found to be the best predictors of IPF among the 67 key genes linked to the disease. Integrating transcriptomic analysis, network ...

Before I got sick, I imagined that if you became disabled, you’d know. As it turns out it’s not that simple. In the years before my chronic inflammatory demyelinating polyneuropathy (CIDP) diagnosis, ...

When most patients hear the words immune thrombocytopenia (ITP), they tend to be very confused, and it can often sound like a foreign language. The uncertainty can be scary, so I wanted to share a few ...