The ratio of posterior wall thickness to the minimum voltage of QRS complexes in limb leads and several parameters derived from electrocardiography could independently predict ATTR-CM. The ratio of ...

Between 21.4% and 57.8% of patients from a real-world ATTR-CM cohort would have been eligible to take part in clinical trials testing disease-modifying therapies. Inclusion and exclusion criteria used ...

The devices are available for patients aged 17 years and older at no extra cost and can be used after receiving training from a healthcare professional. Two new medical devices that will facilitate ...

Gastrointestinal involvement in systemic mastocytosis (SM) is a common complication and often leads to endoscopic findings. Gastrointestinal (GI) symptoms are the second most frequent clinical ...

Sickle cell disease is inherited in an autosomal recessive pattern, which means that a child is born with SCD only when they inherit 2 defective copies of the sickle cell gene (1 from each parent). If ...

In diagnosed cases of cutaneous mastocytosis, investigations to rule out systemic mastocytosis may be appropriate. A young child with a small chest lump and anemia was found to have cutaneous ...

Patients with ANCA-positive interstitial lung disease (ILD) exhibited a high prevalence of fibrotic patterns and mortality largely driven by the ILD itself. In patients with interstitial lung disease ...

Several factors can contribute to the suppression of bone marrow erythropoiesis in infants with HDFN, including maternal antibodies, intrauterine transfusion, and simple transfusion. The suppression ...

(L-R) Rare Disease Advisor senior correspondent Larry Luxner, patient columnists Alithea Athans, Tara Keith and Tom Bartlett, and director of advocacy relations Vera Luxner (Photo by Riya Ajmera) ...

Nusinersen, an SMN2-targeted antisense oligonucleotide drug administered by intrathecal injection, was able to improve motor function and survival. Treatment with nusinersen can improve motor function ...

Frank Rivera, president of Stronger Than Sarcoidosis, speaks at the 2024 World Orphan Drug Congress USA in Boston, Massachusetts (Photo by Manuela Callari, PhD) Prolonged uncertainty about the future ...

Bone marrow flow cytometry is one of the most efficient ways to diagnose or exclude PNH. A patient with a history of cortical vein thrombosis with new-onset pancytopenia was diagnosed with paroxysmal ...