Insights into skeletal involvement in adult Gaucher disease: a single-center experience.

Introduction: Gaucher disease (GD) is a lysosomal storage disorder causing systemic and skeletal complications. This study evaluates bone health in adult GD type 1 patients, focusing on skeletal complications, bone mineral density (BMD), and biochemical markers.

Material And Methods: A cohort of adult GD type 1 patients followed up at Ege University Pediatric Metabolism Department were retrospectively examined.

Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease.

Background: Niemann-Pick type C (NPC) disease is a lysosomal storage disease with visceral organ involvement and neurological and psychiatric symptoms. This study presents the clinical and laboratory findings of NPC cases involving three novel variants.

Methods: The clinical and laboratory findings were reviewed retrospectively between February 2006 and December 2022.

Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.

Unlabelled: Glutaric aciduria type 1 (GA1) is a rare metabolic disorder characterized by a deficiency in the enzyme glutaryl-CoA dehydrogenase. This study aims to present the clinical, biochemical, genetic, and neuroimaging findings of GA1 patients, emphasizing the importance of early detection and the potential benefits of incorporating GA1 into NBS programs. The demographic, clinical, and laboratory findings of GA1 patients were reviewed retrospectively.

HPV vaccine knowledge, attitude, and programme satisfaction among parents and caregivers of vaccine recipients in Ogun state Nigeria.

Introduction: Human Papillomavirus is responsible for about 5% of the global cancer burden. In Nigeria, cervical cancer is the second most common cancer among women. The Federal Government of Nigeria and partners recently introduced Human Papillomavirus (HPV) vaccination into routine immunization beginning with 15 States and the Federal Capital Territory.