Diagnosis of neurofibromatosis type 1 (NF1) requires a combination of clinical assessment, genetic testing, and imaging studies. 1 NF1 is a rare genetic disorder characterized by the development of ...

Mother’s Day can be bittersweet when you have a child with a rare disease such as Alagille syndrome (ALGS). Once my son was diagnosed with ALGS, we got the news his liver disease was severe and he ...

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 ...

Awareness of the key symptoms of NF1 can help in early diagnosis. A young male patient was diagnosed with neurofibromatosis type 1 (NF1) after undergoing detailed clinical investigations, according to ...

I know how hard it is to find a good hematologist these days, especially one that’s very familiar with immune thrombocytopenia (ITP).

The levels of NT-proBNP, left ventricular mass index, maximal wall thickness, and E/E′ ratio were higher in patients with worse neurological stages compared to those in the early neurological stages ...

Test Your Knowledge About Eteplirsen for the Treatment of DMD Test Your Knowledge About the Treatment of DMD Test Your Knowledge About the Epidemiology of DMD Test ...

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 ...

Although most females with Fabry disease have severe clinical symptoms, they are still referred to as carriers, and it is assumed that they have mild disease. It would be clinically more appropriate ...

Immunohistochemistry can identify concomitant SM in acute myeloid leukemia, leading to better risk stratification and management. The most common forms of AML in pediatric patients are those ...

Whole-genome resequencing used to assess ATP7B genotypes found a higher frequency of impaired finger tapping in patients carrying the p.P992L mutation. A variety of sociodemographic factors were found ...

The pathophysiology of Duchenne muscular dystrophy (DMD) revolves around the lack of functional dystrophin, which results in a fragile, permeable cell membrane and the dysregulation of calcium ...