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1.
Clin Radiol ; 76(4): 313.e15-313.e26, 2021 Apr.
Article in English | MEDLINE | ID: mdl-33353730

ABSTRACT

Hereditary ovarian tumour syndromes are a diverse group of hereditary syndromes characterised by the development of specific histotypes of ovarian neoplasms. While BRCA syndromes are exclusively associated with high-grade serous carcinomas, patients with Lynch syndrome show a preponderance of endometrioid subtype of ovarian and endometrial carcinomas. Distinct non-epithelial phenotypes, such as sex cord stromal tumours with annular tubules, Sertoli-Leydig cell tumours, and small cell carcinoma of the hypercalcaemic type occur in patients with Peutz-Jeghers, DICER1, and rhabdoid tumour predisposition syndromes, respectively. Gorlin-Goltz syndrome is characterised by the development of bilateral, multiple ovarian fibromas in 14-24% of patients. Ovarian steroid cell tumours and broad ligament papillary cystadenomas are characteristically found in women with von Hippel-Lindau syndrome. Recent studies have allowed the characterisation of tumour genetics and associated oncological pathways that contribute to tumourigenesis. Implications of the diagnosis of these syndromes on screening, management, and prognosis are discussed.


Subject(s)
Neoplastic Syndromes, Hereditary/diagnostic imaging , Neoplastic Syndromes, Hereditary/genetics , Ovarian Neoplasms/diagnostic imaging , Ovarian Neoplasms/genetics , Basal Cell Nevus Syndrome/diagnostic imaging , Basal Cell Nevus Syndrome/genetics , Basal Cell Nevus Syndrome/pathology , Brain Neoplasms/diagnostic imaging , Brain Neoplasms/genetics , Brain Neoplasms/pathology , Carcinoma, Ovarian Epithelial/diagnostic imaging , Carcinoma, Ovarian Epithelial/genetics , Carcinoma, Ovarian Epithelial/pathology , Colorectal Neoplasms, Hereditary Nonpolyposis/diagnostic imaging , Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , Colorectal Neoplasms, Hereditary Nonpolyposis/pathology , DEAD-box RNA Helicases/genetics , Female , Genes, BRCA1 , Genes, BRCA2 , Germ-Line Mutation , Humans , Kidney Neoplasms/diagnostic imaging , Kidney Neoplasms/genetics , Kidney Neoplasms/pathology , Neoplastic Syndromes, Hereditary/pathology , Ovarian Neoplasms/pathology , Peutz-Jeghers Syndrome/diagnostic imaging , Peutz-Jeghers Syndrome/genetics , Peutz-Jeghers Syndrome/pathology , Pulmonary Blastoma/diagnostic imaging , Pulmonary Blastoma/genetics , Pulmonary Blastoma/pathology , Rhabdoid Tumor/diagnostic imaging , Rhabdoid Tumor/genetics , Rhabdoid Tumor/pathology , Ribonuclease III/genetics , von Hippel-Lindau Disease/diagnostic imaging , von Hippel-Lindau Disease/genetics , von Hippel-Lindau Disease/pathology
2.
Br J Anaesth ; 117 Suppl 1: i97-i102, 2016 Sep.
Article in English | MEDLINE | ID: mdl-27566792

ABSTRACT

BACKGROUND: Use of general anaesthesia or deep sedation during magnetic resonance imaging (MRI) studies leads to pharyngeal muscle relaxation, often resulting in snoring and subsequent vibrations with head micromotion. Given that MRI is very susceptible to motion, this causes artifacts and image quality degradation. The purpose of our study was to determine the effectiveness of different airway management techniques in overcoming micromotion-induced MRI artifacts. METHODS: After obtaining institutional review board approval, we conducted a retrospective study on the image quality of central nervous system MRI studies in nine patients who had serial MRIs under general anaesthesia. All data were obtained from electronic records. We evaluated the following airway techniques: use of no airway device (NAD); oral, nasal, or supraglottic airway (SGA); or tracheal tube. To assess MRI quality, we developed a scoring system with a combined score ranging from 6 to 30. We used the linear mixed model to account for patient-dependent confounders. RESULTS: We assessed 85 MRI studies from nine patients: 48 NAD, 27 SGA, four oral, four nasal, and two tracheal tube. Arithmetical mean combined scores were 21.6, 27.6, 20.3, 15.3, and 29.5, respectively. The estimated mean combined scores for the NAD and SGA cohorts were 22.0 and 27.3, respectively, showing that SGA use improved the combined score by 5.3 (P<0.0001). CONCLUSIONS: The use of an SGA during MRI studies under general anaesthesia or deep sedation significantly improves image quality.


Subject(s)
Airway Management/methods , Anesthesia, General/methods , Central Nervous System/diagnostic imaging , Magnetic Resonance Imaging/methods , Adolescent , Adult , Aged , Airway Management/instrumentation , Anesthesia, General/instrumentation , Anthropometry/methods , Artifacts , Child , Child, Preschool , Deep Sedation , Female , Humans , Intubation, Intratracheal/instrumentation , Intubation, Intratracheal/methods , Laryngeal Masks , Magnetic Resonance Imaging/standards , Male , Middle Aged , Movement , Retrospective Studies , Young Adult
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