Ryner Lai

3 days ago | rarediseaseadvisor.com | Ryner Lai

Achondroplasia is an incurable, lifelong condition that is primarily characterized by dwarfism, spinal abnormalities, and mobility issues. A diagnosis can be made as early as the second or third trimester of pregnancy due to the genetic nature of this disorder. Whether it is discovered neonatally or postnatally, the diagnosis can be a complex, emotional discovery. Fortunately, the art of breaking challenging news to a patient is one that medical students are specifically trained in doing.

3 days ago | rarediseaseadvisor.com | Ryner Lai

A young man with severe hemophilia A had a pharyngolaryngeal hematoma that could potentially obstruct breathing and hence required emergency surgery. This case report was published in Cureus. A 27-year-old male patient presented with worsening breathlessness that started with a fever 3 days previously. He also had a cough and sore throat. A laryngoscopy did not show any areas of concern. He was diagnosed with upper respiratory tract infection and treated as such.

3 days ago | hematologyadvisor.com | Ryner Lai

Parental adverse childhood experiences (ACEs) are associated with increased healthcare usage among pediatric patients with sickle cell disease (SCD), according to a poster presented at the 2025 ASPHO Conference. The study sought to assess if ACEs among adult carers of children with SCD impact healthcare use in any way. Because SCD is typically diagnosed in childhood, parents become the main carers and any dysfunction in their physical or mental well-being may compromise care.

1 week ago | rarediseaseadvisor.com | Ryner Lai

Cardiovascular events often overlap with systemic vasculitis symptoms in patients with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), complicating both diagnosis and management, according to a study published in Nephrology Dialysis Transplantation. Cardiovascular involvement in AAV is well-documented and poses a significant challenge in terms of morbidity and mortality.

1 week ago | hematologyadvisor.com | Ryner Lai

A framework that aims to smoothen the care process of patients with sickle cell disease (SCD) transitioning from pediatric to adult services showed considerable promise, according to a poster presented at the 2025 ASPHO Conference. Studies indicate that the risk of morbidity and mortality increases as pediatric patients age into adulthood. Furthermore, there is a relative paucity of studies assessing how this transition can be made as seamlessly as possible.