原発性副甲状腺機能亢進症, 尿管ポリープおよび腎盂結石を伴ったKlinefelter症候群の1例

副甲状腺機能亢進症, 右尿管ポリープ, および右腎盂結石を合併したKlinefelter症候群の1例を経験し, その臨床経過を報告するとともに文献的考察を加えた。〔症例〕 55歳男性で右側腹部痛を主訴として来院した。理学的所見で外陰部は男性型であるが発育不良で両側睾丸は小さくeunuchoidal habitusを呈した。既往歴に右尿管結石で5回自然排石が認められたほかに, 16年前gynecomastiaのためmastectomyを受けた事がある。身長171 cm, arm span 177.8 cmで体毛は少なく染色体検査は47XXYでKlinefelter症候群と診断した。血清LH, FSHは高値でテストステロン値は低値を示した。排泄性腎盂造影で右水腎症と右腎孟結石が認められ, 逆行性腎盂造影により右尿管上部に水腎症の原因となる腫瘍による多発性陰影欠損がみられ, 尿細胞診も悪性腫瘍を疑わせたため, 右腎尿管全摘術を施行した。尿管腫瘍は組織学的には多発性の尿管ポリープであった。血清Ca, Pは正常範囲内であるがhypercalciuriaがみられ, %TRPも54%と低値で副甲状腺ホルモン値も高いため, 原発性副甲状腺機能亢進症を疑いcervical explorationを施行した。副甲状腺は, diffuse hyperplasiaを呈し3/4副甲状腺亜全摘術と胸腺摘出術を行った。摘出した胸腺内には異所性副甲状腺組織は認められなかった。文献的に本症候群には糖尿病, 甲状腺機能不全, 下垂体牲腺機能不全などのいくつかの内分泌機能障害が報告されている。しかし本症候群に副甲状腺機能充進を合併した報告は過去に1例をみるにすぎない。副甲状腺機能亢進症の診断上, %TRPと静脈カテーテルによる頸部静脈血のmultiple samplingによる副甲状腺ホルモン測定の意義について言及した。Herein is reported a case of 47 XXV-Klinefelter's syndrome associated with ureteral polyps, renal pelvic stone and primary hyperparathyroidism. To the best of our knowledge, this is the second patient reported to have Klinefelter's syndrome coexisting with primary hyperparathyroidism. Frequent endocrinological disorders in the patients with Klinefelter's syndrome and diagnostic problems for hyperparathyroidism and ureteral polyps are discussed

LINE-1 hypomethylation in gastric cancer, detected by bisulfite pyrosequencing, is associated with poor prognosis

BACKGROUND: Genome-wide DNA hypomethylation plays an important role in genomic instability and carcinogenesis. DNA methylation in the long interspersed nucleotide element-1, L1 (LINE-1) repetitive element is a good indicator of the global DNA methylation level. In some types of human neoplasms, LINE-1 methylation level is attracting interest as a predictive marker for patient prognosis. However, the prognostic significance of LINE-1 hypomethylation in gastric cancer remains unclear. METHODS: Using 203 resected gastric cancer specimens, we quantified LINE-1 methylation using bisulfite-pyrosequencing technology. A Cox proportional hazards model was used to calculate the hazard ratio (HR), adjusted for the clinical and pathological variables. RESULTS: Gastric cancers showed significantly lower LINE-1 methylation levels compared to matched normal gastric mucosa (p < 0.0001; n = 74). Tumoral LINE-1 methylation range was 11.6–97.5 on a 0–100 scale (n = 203; mean 71.4, median 74.4, standard deviation 12.9). LINE-1 hypomethylation was significantly associated with shorter overall survival [log-rank p = 0.029; univariate HR 2.01, 95 % confidence interval (CI) 1.09–3.99, p = 0.023; stage-matched HR 1.88, 95 % CI 1.02–3.74, p = 0.041; multivariate HR 1.98, 95 % CI 1.04–4.04, p = 0.036]. No significant effect modification was observed by any of the covariates in survival analysis (all p interaction >0.25). CONCLUSIONS: LINE-1 hypomethylation in gastric cancer is associated with shorter survival, suggesting that it has potential for use as a prognostic biomarker

Successful esophageal bypass surgery in a patient with a large tracheoesophageal fistula following endotracheal stenting and chemoradiotherapy for advanced esophageal cancer: case report

A 63-year-old man with esophageal achalasia for more than 20 years complained of respiratory distress. He was admitted as an emergency to the referral hospital three months previously. Computed tomography revealed tracheobronchial stenosis due to advanced esophageal cancer with tracheal invasion. He underwent tracheobronchial stenting and chemoradiotherapy. A large tracheoesophageal fistula (TEF) developed after irradiation (18 Gy) and chemotherapy, and he was unable to eat. Thereafter, he was referred to our hospital, where we performed esophageal bypass surgery using a gastric conduit. A percutaneous cardiopulmonary support system was prepared due to the risk of airway obstruction during anesthesia. A small-diameter tracheal tube inserted into the stent achieved ordinary respiratory management. No anesthesia-related problems were encountered. Oral intake commenced on postoperative day 9. He was discharged on postoperative day 23 and was able to take in sustenance orally right up to the last moment of his life. Esophageal bypass under general anesthesia can be performed in patients with large TEF with sufficient preparation for anesthetic management

<原著>副腎腫瘤の臨床的検討

We reviewed the records of 13 patients with adrenal masses operated on over a ten-year period to clarify clinical characteristics of adrenal tumors. Tumors were found incidentally in seven of nine patients with primary adrenal tumors (78%); however, three of these seven patients (43%) proved to have shown symptoms related to adrenal hyperfunction when re-e、raluated. Other adrenal tumors (metastatic in three patients and inflammatory in one) were found without any symptoms referable to the tumors. In nine of 13 patients (69%), tumors were discovered by computerized tomography (CT). All patients with primary tumors have been gotten free of disease postoperatively. In contrast, although all three patients with metastatic adrenal tumors underwent resection of all known disease tissue, they died of the recurrence of malignancies within 10 months. This study suggests that a number of functional adrenal tumors are possibly left undiagnosed until found incidentally, and that CT is the most powerful tool to detect adrenal tumors. Our data did not support surgical intervention in cases of metastatic adrenal tumors.副腎腫瘤の臨床的特徴を明らかにするために過去10年間に当科で手術された13例を検討した. 原発性腫瘍9例中2例は臨床症状より原発性アルドステロン症を疑われ副腎腫瘍を発見されているが, 残りの7例(78%)は偶然腫瘍が発見された, いわゆる incidentaloma であった. しかしながら, retrospective にみるとこの7例中3例(43%)で副腎機能亢進によると考えられる症状を呈していた. 転移性腫瘍3例, histoplasma による肉芽腫1例は全て無症状であった. 13例中9例(69%)はCTにより, 2例は超音波, 1例は血管造影, 1例は scintigraphy によりそれぞれ病変を発見され, CT で副腎腫瘤を指摘できなかったのは1例のみであった. 13例中11例は経腹的に, 2例 は開胸開腹で手術されたが, 術後合併症は1例に創感染を認めたのみであった. 原発性腫瘍例は全例術後再発を認めていないが, 転移性腫瘍の3例は全例, 術後10ヶ月以内に再発死した. 以上の結果は機能性副腎腫瘍でも偶然発見されるまで診断されない場合が多いことを示唆しており, 臨床症状を注意深く検討し常に副腎腫瘍の可能性を考慮にいれることが肝要であると考えられる. また, 今回の結果より CT が副腎腫瘤の診断において重要な位置を占めるものと考えられた. なお, 転移性副腎腫瘍に対する手術療法は今回の検討ではそれを積極的に支持する結果は得られず, 今後さらに検討を要する問題と思われる

Fast and Slow Oscillation Electrooculography in Harada Disease

We assessed clinical utility of fast and slow oscillations (FO and SO) of the electrooculogram (EOG) in Harada disease. In 12 eyes of 4 female and 2 male subject patients aged 18 to 77 years (average: 41.8 years), FO and SO were recorded using an automated electrooculograph, the Nidek EOG-2, in the acute period before treatment and in the remission period under corticosteroid therapy. FO parameters, namely the RfFO [the average ratio in percentage of the maximum amplitude in the dark period (AD)/the minimum amplitude in the light period (AL) during FO measurement] and the dfFO (the average difference in ?V between AD and AL) were evaluated. The L/DSO (the light peak/dark trough ratio of the SO) was calculated as an SO parameter. The RfFO, dfFO and L/DSO showed low values in 7 (58.3%), 10 (83.3%) and 8 (66.7%) out of all 12 eyes in the acute period, respectively. In the remission period, values in the normal range were obtained in 12 (100%), 11 (91.7%) and 8 (66.7%) out of 12 eyes in the RfFO, dfFO and L/DSO, respectively. In mutual relation to each RfFO, dfFO and L/DSO in the acute and remission periods, all 12 eyes showed recovery values both in the RfFO and dfFO in the remission stage after systemic administration of corticosteroids, but 4 out of 12 eyes (33.3%) showed no recovery in the L/DSO. The FO may therefore well reflect the affected or ameliorated conditions in the outer layers of the retina and the choroid in Harada disease, in contrast to the SO. However, further observations are requested in more Harada disease patients

Cytopathic effects and local immune responses in repeated neoadjuvant HSV-tk + ganciclovir gene therapy for prostate cancer

ObjectiveCytopathic effects and local immune response were analyzed histologically in prostatic carcinoma (PCa) with in situ herpes simplex virus-thymidine kinase (HSV-tk)/ganciclovir (GCV) gene therapy (GT). MethodsFour high-risk PCa patients who received HSV-tk/GCV GT were investigated. After two cycles of intraprostatic injection of HSV-tk and administration of GCV, radical prostatectomy was performed. Formalin-fixed, paraffin-embedded sections were evaluated using immunohistochemistry. PCa with hormone therapy (HT, n = 3) or without neoadjuvant therapy (NT, n = 4) that were equivalent in terms of risk were also examined as reference. Immunoreactively-positive cells were counted in at least three areas in cancer tissue. Labeling indices (LI) were calculated as percentage values. ResultsssDNA LI in GT increased, indicating apoptosis, as well as tumor-infiltrating lymphocytes and CD68-positive macrophages, compared with their biopsies. GT cases showed significantly higher numbers of ssDNA LI, CD4/CD8-positive T cells and CD68-positive macrophages including M1/M2 macrophages than HT or NT cases. However, there was no significant difference in CD20-positive B cells among the types of case. There were strong correlations between CD8+ T cells and CD68+ macrophages (ρ = 0.656, p < 0.0001) as well as CD4+ T cells and CD20+ B cells (ρ = 0.644, p < 0.0001) in PCa with GT. ConclusionsEnhanced cytopathic effect and local immune response were might be indicated in PCa patients with HSV-tk/GCV gene therapy.Cytopathic effects and local immune response were analyzed histologically in prostatic carcinoma (PCa) with in situ herpes simplex virus-thymidine kinase (HSV-tk)/ganciclovir (GCV) gene therapy (GT..

Three-dimensional 4K resolution video microscope in an orbitozygomatic approach for skull base tumor

Background: The authors propose that the newly developed three-dimensional 4K resolution (3D-4K) video microscope, Orbeye™, can be a user-friendly alternative tool for performing orbitozygomatic craniotomy and tumor removal. It was officially approved in Japan in October 2017.Case description: A 38-year-old, otherwise healthy, woman presented with left impaired visual acuity, motor aphasia, headache, and vomiting. Magnetic resonance imaging (MRI) revealed the presence of a large left sphenoid ridge meningioma with marked perifocal edema and mass effect. Using Orbeye™, en bloc orbitozygomatic craniotomy and skull base tumor removal were safely performed. It enabled us to perform the procedure, and to share the operative image owing to the realistic 3D perception of the operative field, its excellent illumination, and viewing angle. Especially, the lower viewing angle appeared to be extremely difficult to obtain using conventional methods. The patient resumed her daily life, and a postoperative MRI showed total removal of the tumor.Conclusions: Orbeye™ has overcome shortcomings of the operative microscope. It has a user-friendly design, and surgeons’ intraoperative fatigue and stress appear to be decreased. It is useful for observers to understand the skull base technical nuances using the 3D-4K image