http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
Percutaneous laser ablation for benign and malignant thyroid diseases
Giovanni Mauri,Luca Nicosia,Paolo Della Vigna,Gianluca Maria Varano,Daniele Maiettini,Guido Bonomo,Gioacchino Giuliano,Franco Orsi,Luigi Solbiati,Elvio De Fiori,Enrico Papini,Claudio Maurizio Pacella 대한초음파의학회 2019 ULTRASONOGRAPHY Vol.38 No.1
Minimally invasive image-guided thermal ablation is becoming increasingly common as an alternative to surgery for the treatment of benign thyroid nodules. Among the various techniques for thermal ablation, laser ablation (LA) is the least invasive, using the smallest applicators available on the market and enabling extremely precise energy deposition. However, in some cases, multiple laser fibers must be used simultaneously for the treatment of large nodules. In this review, the LA technique is described, and its main clinical applications and results are discussed and illustrated.
Moresco Giada,Rondinone Ornella,Mauri Alessia,Costanza Jole,Santaniello Carlo,Colapietro Patrizia,Micaglio Emanuele,Marfia Giovanni,Pesenti Chiara,Grilli Federico,Rinaldi Berardo,Prada Elisabetta,Scuv 한국유전학회 2023 Genes & Genomics Vol.45 No.5
Background Whole-Exome Sequencing (WES) is a valuable tool for the molecular diagnosis of patients with a suspected genetic condition. In complex and heterogeneous diseases, the interpretation of WES variants is more challenging given the absence of diagnostic handles and other reported cases with overlapping clinical presentations. Objective To describe candidate variants emerging from trio-WES and possibly associated with the clinical phenotype in clinically heterogeneous conditions. Methods We performed WES in ten patients from eight families, selected because of the lack of a clear clinical diagnosis or suspicion, the presence of multiple clinical signs, and the negative results of traditional genetic tests. Results Although we identified ten candidate variants, reaching the diagnosis of these cases is challenging, given the complexity and the rarity of these syndromes and because affected genes are already associated with known genetic diseases only partially recapitulating patients’ phenotypes. However, the identification of these variants could shed light into the definition of new genotype–phenotype correlations. Here, we describe the clinical and molecular data of these cases with the aim of favoring the match with other similar cases and, hopefully, confirm our diagnostic hypotheses. Conclusion This study emphasizes the major limitations associated with WES data interpretation, but also highlights its clinical utility in unraveling novel genotype–phenotype correlations in complex and heterogeneous undefined clinical conditions with a suspected genetic etiology.