The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency.
The LYSET gene encodes the LYSET transmembrane protein, which regulates lysosome biogenesis by activating the mannose-6-phosphate (M6P) pathway. This is an autosomal recessive, ultrarare, and severe progressive skeletal dysplasia with …
The problem with the 'truth': rethinking ground truth for artificial intelligence in endometriosis diagnosis.
Artificial intelligence (AI) is revolutionizing how we practice medicine. In areas where we have traditionally struggled, such as diagnosing endometriosis, AI has significant potential to improve the breadth and accuracy …
Integration of Raman tweezers and machine learning for label-free single-cell characterization of endometriosis cells.
Endometriosis occurs when endometrial tissue grows outside the uterus, affecting millions of women worldwide. Despite extensive research, its cellular mechanisms remain unclear, complicating both diagnosis and treatment. This study presents …
The "White line sign": A novel sonographic soft marker of pelvic endometriosis.
Ultrasound assessment of superficial endometriosis (SE) is difficult, and it is still mainly diagnosed via surgery. We hypothesized that a thickening of the subperitoneal layer of tissue overlying the anterior …
Isotretinoin-related adverse sexual and reproductive outcomes: a real-world pharmacovigilance study of the FDA Adverse Event Reporting System (FAERS).
Systemic isotretinoin remains the most effective therapy for severe acne and is increasingly prescribed off-label for milder disease and other sebaceous disorders such as rosacea, seborrhea, folliculitis decalvans, and hidradenitis …
Correction to: Efficacy and Safety of 48-Week Low-Dose Dienogest Treatment in Patients with Endometriosis-Associated Dysmenorrhea: A Randomized, Open-Label, Parallel-Group Trial.
Lack of Scientific Evidence for the Use of Gestrinone in the Treatment of Lipedema: A Systematic Review.
Lipedema is a chronic, progressive disorder marked by the abnormal accumulation of subcutaneous adipose tissue, predominantly in the lower body and almost exclusively affecting women. In recent years, the off-label …