Ryner Lai, Hematology Advisor Journalist Profile

Articles

Exploring the Orthopedic Burden of Achondroplasia and Its Impact on QoL

6 days ago | rarediseaseadvisor.com | Ryner Lai

Achondroplasia is an autosomal dominant genetic disorder that is characterized primarily by disproportionately short stature. It is also associated with a range of morbidities, including developmental delays in children, poor muscle tone, obstructive sleep apnea, and spinal deformities that may require surgical correction. Achondroplasia diagnosis should be established as early as possible to begin treatment of the potential pathologies scattered across different medical disciplines.
Interstitial Lung Disease Patterns in AAV Affect Prognosis

6 days ago | rarediseaseadvisor.com | Ryner Lai

Interstitial lung disease (ILD) patterns differ between patients with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), with potentially wide-ranging prognostic implications, according to a study published in Seminars in Arthritis & Rheumatism. ILD is often seen in patients with AAV, with the most common subtype being usual interstitial pneumonia (UIP).
Severe Respiratory Illness in Patient With EGPA Following COVID-19 Infection

6 days ago | rarediseaseadvisor.com | Ryner Lai

A female child who was diagnosed with eosinophilic granulomatosis with polyangiitis (EGPA), a form of antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), died shortly after experiencing severe respiratory illness following COVID-19 infection, according to a case report published in Pediatric Rheumatology. A 9-year-old girl was hospitalized for a 7-month history of fever, cough, dyspnea, and subcutaneous nodules.
The Current Treatment Landscape of HDFN

6 days ago | rarediseaseadvisor.com | Ryner Lai

In early 2024, nipocalimab was granted Breakthrough Therapy designation by the US Food and Drug Administration (FDA) for the treatment of hemolytic disease of the fetus and newborn (HDFN) based on findings from a phase 2 study that showed the majority of pregnant patients with HDFN who were given nipocalimab had a live birth at 32 weeks of gestational age or later without needing an intrauterine blood transfusion (IUT) during pregnancy.
A Novel Virtual Echocardiography Tool Effective in Screening for Potential PAH

1 week ago | rarediseaseadvisor.com | Ryner Lai

A novel virtual echocardiography screening tool (VEST) algorithm is effective in detecting potential cases of pulmonary arterial hypertension (PAH), according to a study published in the American Heart Journal. Because PAH presentation is often nonspecific, studies indicate that it is likely underrecognized, which results in diagnostic delays. VEST uses parameters routinely assessed in standard echocardiography and includes 3 routine transthoracic echocardiogram (TTE) parameters.
Assessing Evidence for Best Second-Line Therapies in PBC Care

1 week ago | rarediseaseadvisor.com | Ryner Lai

Ursodeoxycholic acid (UDCA) remains the standard of care in the management of primary biliary cholangitis (PBC), an autoimmune liver disease later characterized by liver cirrhosis, failure, and death. Use of UDCA has resulted in significant improvements in patient prognosis.
Case Report: IgG4-RD Associated With Multiple Aneurysms

1 week ago | rarediseaseadvisor.com | Ryner Lai

An elderly male patient with multiple aneurysms was eventually diagnosed with immunoglobulin G4-related disease (IgG4-RD) following histopathology and laboratory findings after surgery. This case report was published in the Annals of Vascular Diseases. A 79-year-old male patient presented with a 2-year history of aneurysms of the internal iliac artery, left common femoral artery (CFA), and right CFA.
Rare Diagnoses of SCID and Severe Hemophilia A in a Neonate

1 week ago | rarediseaseadvisor.com | Ryner Lai

A neonate was simultaneously diagnosed with severe combined immune deficiency (SCID) and severe hemophilia A and received hematopoietic stem cell transplantation (HSCT), to which he responded well. This case report was published in Research and Practice in Thrombosis and Haemostasis. A male neonate underwent a newborn screening at 15 days of life, and the results were suspicious for SCID. The boy was born at term and presented in a good condition.
Light-Intensity Physical Activity Improves QOL in Patients With Cancer Regardless of Pandemic Conditions

1 week ago | oncologynurseadvisor.com | Ryner Lai

Physical activity of a light intensity is a key predictor of the physical function aspect of quality of life (QOL) in patients with respiratory and digestive system cancers, both during and outside the COVID-19 pandemic, according to a study published in Supportive Care in Cancer. Cancer remains one of the leading causes of death globally. The progressive nature of cancer means that QOL is slowly compromised as patients deteriorate across physical and mental domains.
Early Diagnosis of ATTR-PN May Be Both Vital and Achievable

1 week ago | rarediseaseadvisor.com | Ryner Lai

Transthyretin amyloid polyneuropathy (ATTR-PN) is a disorder in which the pathological deposition of misfolded protein in the peripheral nervous system results in neuropathy. Typically, patients initially present with distal symmetric polyneuropathy, accompanied by neuropathic pain. These symptoms are nonspecific and are hence easily mistaken for other more common diseases, such as diabetic neuropathy.