The registry’s primary outcome measure is the prevalence of the systemic form of mastocytosis in the studied population. A new single-center longitudinal registry of patients with cutaneous and ...

There were significant associations between echocardiographic parameters, such as increased left ventricular mass and greater interventricular septal thickness at end-diastole, and positive 99mTc-PYP ...

At the time of diagnosis, patients with different types of [cardiac amyloidosis] had distinct echocardiographic presentation and survival differed in the first 3 years. Differences in ...

Rare Disease Advisor, a trusted source of medical news and feature content for healthcare providers, offers clinicians insight into the latest research to inform clinical practice and improve patient ...

The short-supervised group used CPAP fewer hours per night and had lower adherence adjusted for age-specific sleep needs. Two different strategies for continuous positive airway pressure (CPAP) ...

Tetrabenazine and olanzapine treatment led to significant improvements in chorea but olanzapine also increased rigidity. Olanzapine improves chorea, irritability, and behavior in patients with ...

A monocyte mitochondrial superoxide cutoff accurately stratified short-term survival risk in hepatocellular carcinoma. Circulating leukocyte mitochondrial oxidative stress may be a protective ...

Microscopic examination of the patient's fibroblasts after treatment revealed improved FXN levels. Antisense oligonucleotide (ASO) therapy appears to be a viable therapeutic alternative for Friedreich ...

CLL-related immune dysfunction, along with therapy-associated immunosuppression, contributes to impaired tumor surveillance. Patients with chronic lymphocytic leukemia (CLL) are at increased risk for ...

The mean time a healthcare professional and patients spent for all enzyme replacement therapy-related activities was 2.5 hours and 6.1 hours, respectively. A new multiregional study published in the ...

The association between the reduction in 99m Tc-DPD uptake at follow-up and several established biomarkers of response to treatment in transthyretin amyloid cardiomyopathy (ATTR-CM) is poor, according ...

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder that leads to progressive weakness and loss of movement. SMA results from the degeneration of alpha motor neurons in ...