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Distinction between hepatocellular carcinoma and hypervascular liver metastases in non-cirrhotic patients using gadoxetate disodium-enhanced magnetic resonance imaging
Purpose: To identify the hallmarks of gadoxetate disodium-enhanced magnetic resonance imaging (MRI) distinguishing hepatocellular carcinoma (HCC) from hypervascular liver metastases (HLMs).
Methods: Between January 2008 and October 2020, among patients who underwent gadoxetate disodium-enhanced MRI, those who met the following criteria were retrospectively included: without chronic hepatitis or liver stiffness ≤2.5 kPa on magnetic resonance elastography or F0/F1 on pathological assessment. Two blinded radiologists reviewed the imaging findings to judge the presence or absence of enhancing capsule, nonperipheral washout, corona enhancement, hypointensity in the transitional/hepatobiliary phase (HBP), hyperintensity on T2-weighted/diffusion-weighted imaging (DWI), mosaic architecture, and blood products/fat in mass. The lesion-to-liver signal intensity ratios in HBP and DWI were also calculated. Univariate and multivariate analyses were performed to identify the imaging hallmarks distinguishing HCC from HLM. Interobserver agreement was calculated using kappa values and intraclass correlation coefficients (ICCs).
Results: The final study cohort comprised 72 lesions in 44 patients (mean age, 65.0±11.9 years). Univariate analysis revealed higher frequencies of the following features in HCC than in HLM (P<0.10): nonperipheral washout, corona enhancement, transitional phase hypointensity, mosaic architecture, and fat in mass (P=0.002–0.073). Multivariate analysis revealed that nonperipheral washout and mosaic architecture favored the diagnosis of HCC over that of HLM with odds ratios of 7.66 and 14.6, respectively (P=0.038 and 0.029, respectively). The interobserver agreement for each item was moderate or substantial (kappa or ICC=0.447–0.792).
Conclusion: Peripheral washout and mosaic architecture may be reliable imaging hallmarks for distinguishing HCC from HLM
ひくまの : 浜松医科大学附属図書館報. No. 72
特集 データベースがリニューアル!;「モルヌピラビル」を新しくなったデータベースで検索してみました / 黒野暢仁;図書館からのお知らせboo
A case of pelvic peritoneal endometrioma predicted before surgery
子宮内膜症が卵巣外で嚢胞形成することは稀である。今回、術前検査で内膜症性嚢胞が疑われ、腹腔鏡下摘出術により骨盤腹膜子宮内膜症性嚢胞と診断された症例を経験した。【症例】35歳、2妊0産。挙児希望で近医を受診し骨盤内腫瘤を指摘され、精査目的に当院紹介となった。経腟超音波検査上両側卵巣は正常で、それらとは別に5cm大の腫瘤が子宮背側にあり、MRI検査上変性子宮筋腫あるいは内膜症性嚢胞が疑われた。確定診断目的の腹腔鏡下摘出術を施行すると、子宮・両側付属器は肉眼的に正常で、腫瘤は骨盤腹膜子宮内膜症性嚢胞と診断された。【結論】両側卵巣と離れて描出された骨盤内腫瘤であっても、MRIで典型的な内膜症性嚢胞の信号を示すものは卵巣外内膜症性嚢胞も鑑別の一つである。It is unusual for endometriosis to form an extra-ovarian endometrioma. We presented a case of pelvic peritoneal endometriotic cyst, which pre-operatively was thought to be an extra-ovarian endometrioma. After a laparoscopic surgery, pathological examination revealed the mass to be a pelvic peritoneal endometrioma. [Case] A 35-yearold G2P0 woman visited a clinic hoping to get pregnant. She was diagnosed of a peritoneal cyst and came to our hospital for a detailed examination. Using sonography, a mass of about 5cm was detected in the posterior uterus, and both ovaries were normal. The MRI study suggested that the mass was either a denaturing myoma of the uterus or a secondary-ovarian endometrioma. We performed a laparoscopic operation for excision of the mass and sent it for a pathological examination. We did not detect any abnormal finding in the uterus and both adnexa. A diagnosis of an endometriotic cyst was made following the pathological examination. [Conclusion] We finally reached a definitive diagnosis by laparoscopic operation. This suggested that extra-ovarian endometrioma may be considered when a pelvic mass that is far from both ovaries is found, and MRI showed a typical endometriotic sign.journal articl
Impairment of the hypothalamus-pituitary-thyroid axis caused by naturally occurring GATA2 mutations in vitro
浜松医科大学博士(医学)doctoral医学系研究科thesi
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing
浜松医科大学博士(医学)doctoral医学系研究科thesi
A case of fulminant type 1 Diabetes mellitus after an elective Caesarean section
劇症1型糖尿病は、膵β細胞の破壊による急激なインスリン分泌不全から高血糖とケトアシドーシスを呈する重篤な病態である。筆者らは、帝王切開術後に発症した劇症1型糖尿病の1例を経験した。42歳、前回の妊娠経過で血糖値異常は認めず、今回の妊娠経過でも初期と術前の随時血糖では異常を認めなかった。選択的帝王切開術後より冷汗・悪心の出現を認め、術後1日目に低血糖を認めた。術後6日目に高血糖によるケトアシドーシスを発症し、劇症1型糖尿病と診断された。劇症1型糖尿病は感染に対するストレス応答や妊娠が関与するとされる。本症例では術後6日に高血糖を確認して確定診断に至ったが、術後に低血糖を認めており、侵襲を伴う血糖の推移として異常であるという認識が必要である。また、帝王切開術後に冷汗、悪心を認める際には低血糖を鑑別診断として評価し、劇症1型糖尿病などの重篤な疾患の早期発見・治療につなげることが重要である。Fulminant type 1 diabetes mellitus is a serious condition in which the destruction of pancreatic beta cells leads to rapid insulin deficiency, resulting in hyperglycemia and ketoacidosis. We report a case of fulminant type 1 diabetes mellitus after elective cesarean section in which the patient developed ketoacidosis due to hyperglycemia after a period of hypoglycemia. A 42-year-old female underwent elective repeat cesarean section due to previous cesarean delivery. Despite food intake, the patient had hypoglycemia for 3 days after surgery and developed ketoacidosis due to hyperglycemia after 6 days. The pathogenesis of fulminant type 1 diabetes mellitus remains unclear, but links to stress responses such as infections have been identified. Pregnancy itself may also be related to the onset of the disease because of increased insulin resistance and changes in the maternal immune system. In this case, the stress response due to cesarean section may have contributed to the onset of fulminant type 1 diabetes mellitus. When cold sweats and nausea are observed after cesarean section, glycemic abnormalities should be suspected of early diagnosis hidden serious diseases such as fulminant type 1 diabetes mellitus.journal articl
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata
X-linked dominant chondrodysplasia punctata (CDPX2) is a rare congenital disorder caused by pathogenic variants in EBP on Xp11.23. We encountered a girl and her mother with CDPX2-compatible phenotypes including punctiform calcification in the neonatal period of the girl, and asymmetric limb shortening and ichthyosis following the Blaschko lines in both subjects. Although Sanger direct sequencing failed to reveal a disease-causing variant in EBP, whole genome sequencing (WGS) followed by Manta analysis identified a ~ 4.5 kb insertion at EBP exon 2 of both subjects. The insertion was associated with the hallmarks of retrotransposition such as an antisense poly(A) tail, a target site duplication, and a consensus endonuclease cleavage site, and the inserted sequence harbored full-length SVA_F1 element with 5′- and 3′-transductions containing the Alu sequence. The results imply the relevance of retrotransposition to the human genetic diseases and the usefulness of WGS in the identification of retrotransposition.journal articl