Context: Congenital hypogonadotropic hypogonadism (CHH) is defined as an isolated deficiency of gonadotropin hormones. Mini-puberty, a transient postnatal activation of the hypothalamic-pituitary-gonadal axis in healthy infants, provides a window of opportunity to diagnose and treat CHH. Currently, in male infants with CHH, testosterone is used to increase phallus size.
View Article and Find Full Text PDFTo assess the feasibility of utilizing a large language model (LLM) in extracting clinically relevant information from healthcare data in patients who have undergone lung microwave tumor ablation (MWA). In this single-center retrospective study, radiological reports and clinic notes of 20 patients were extracted, up to 12 months post-treatment. Utilizing a LLM (GPT 3.
View Article and Find Full Text PDFObjectives: To evaluate the role of systemic arterial embolization in patients with primary and metastatic lung tumors presenting with hemoptysis requiring emergent management.
Patients And Methods: This retrospective single-center study evaluated patients undergoing transarterial embolization for emergent hemoptysis. Endpoints included technical success, clinical success and overall survival.
COL9A1 encodes the alpha-1 chain of type IX collagen heterotrimer, which is a vital component of collagen fibrils in hyaline cartilage. There are preliminary lines of evidence suggesting that COL9A1 mutations may be associated with autosomal dominant multiple epiphyseal dysplasia (MED), a disorder affecting the epiphysis of long bones. With only 2 reported cases (both from the same family) of MED in autosomal dominant COL9A1-related disorders (MIM 614135) in the clinical scientific literature hitherto, the phenotype is poorly understood at present.
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