Acıbadem University

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

Abstract Background Pathogenic variants in AGO2 ,encoding a central component of the RNA-induced silencing complex (RISC), cause the neurodevelopmental disorder Lessel-Kreienkamp syndrome (LESKRES). The variant spectrum and associated molecular mechanisms underlying phenotypic va...

Quality of Life Outcomes in Patients with Pulmonary Hypertension Receiving Prostacyclin Therapy: Impact of Anxiety, Depression, Sociodemographic Characteristics, and Treatment-Related Factors

OBJECTIVE: Despite advances in prostacyclin therapy, pulmonary hypertension (PH) continues to impair patients' quality of life (QoL). This study aimed to identify the clinical and psychological factors associated with QoL in patients receiving prostacyclin therapy. METHOD: This c...

Not just alignment: body shape influences adult spinal deformity biomechanics

Abstract Purpose Adult spinal deformity (ASD) alters sagittal alignment and trunk centre of mass location, increasing spinal loading. Current clinical assessment of ASD primarily focuses on alignment parameters disregarding patient’s body shape variability. This study aimed to ev...