EFORT Open Rev
February 2025
Alkaptonuria is an extremely rare disorder of tyrosine metabolism caused by an autosomal recessive enzymatic deficiency of homogentisic acid (HGA) oxidase, causing its accumulation in collagenous structures, especially in hyaline cartilage. It is characterized by a triad of homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of the spine and large weight-bearing joints. Several clinical manifestations were described including coronary and valvular calcification, aortic stenosis, limited chest expansion, and renal, urethral and prostate calculi as well as ocular and cutaneous pigmentation.
View Article and Find Full Text PDFPurpose: The use of Hounsfield unit (HU) measurements derived from preoperative computed tomography (CT) scans has emerged as a promising surrogate for assessing bone mineral density (BMD). This systematic review aims to elucidate the role of HU in predicting spinal outcomes in patients undergoing spinal instrumentation.
Methods: A comprehensive systematic review of the English-language literature was performed across multiple databases, focusing specifically on adult patients who underwent spinal instrumentation.
: Knee pain in hemodialysis (HD) patients might affect health-related quality of life (HRQoL) and may be related to anxiety and depressive symptoms. The aim of this study was to assess the prevalence of knee pain in chronic HD patients and to determine its relationship with anxiety, depression, and HRQoL, : This multicenter cross-sectional study was carried out on chronic HD patients. Sociodemographic, clinical, and therapeutic data were collected.
View Article and Find Full Text PDFBackground: The SMILE study is a multi-institutional phase II clinical trial to determine the efficacy and safety of an antiprogestin, onapristone, in combination with fulvestrant as second-line therapy for patients with ER+, PgR+/-, HER2- metastatic breast cancer. This study was terminated early and herein, we report patient characteristics, and outcomes.
Methods: Eligibility criteria included disease progression on ≥2 lines of prior therapy, ECOG performance status ≤ 2, measurable disease per RECIST 1.
Background: The pandemic of coronavirus disease-19 (COVID-19) has a profound influence on the health of the population. This study aimed to assess the weight changes and its relation to the dietary habits and physical activity among adult Egyptian population during the second wave of COVID-19 pandemic.
Materials And Methods: This cross-sectional study was conducted using anonymous online questionnaire.