尿道原発と考えられた悪性リンパ腫の1例

82歳女.主訴は排尿困難と残尿感.膀胱底部から尿道周囲にかけて鶏卵大の腫瘤を認め, 生検で非ホジキンリンパ腫と診断された.他臓器に病変を認めなかった為, 尿道原発の悪性リンパ腫と診断し放射線療法を施行した.治療後, 腫瘍は著明に縮小したが肺転移が出現した.エトポシド単剤による化学療法を追加したが, 放射線治療後5ヵ月で腫瘍の急激な増加を認め癌死したA patient with a primary malignant lymphoma surrounding the female urethra is reported. Despite the good response of the primary tumor to radiotherapy, the patient died shortly after diagnosis due to disseminated disease. We reviewed 16 cases of this rare entity reported previously

The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene

BackgroundSevere protein C (PC) deficiency is a rare heritable thrombophilia leading to thromboembolic events during the neonatal period. It remains unclear how individuals with complete PC gene (PROC) defects develop or escape neonatal stroke or purpura fulminans (PF).ProcedureWe studied the onset of disease and the genotype of 22 PCâ deficient patients with double mutations in PROC based on our cohort (n = 12) and the previous reports (n = 10) in Japan.ResultsTwentyâ two patients in 20 unrelated families had 4 homozygous and 18 compound heterozygous mutations. Sixteen newborns presented with PF (n = 11, 69%), intracranial thromboembolism and hemorrhage (n = 13, 81%), or both (n = 8, 50%), with most showing a plasma PC activity of <10%. Six others first developed overt thromboembolism when they were over 15 years of age, showing a median PC activity of 31% (range: 19â 52%). Fifteen of the 22 patients (68%) had the five major mutations (G423VfsX82, V339M, R211W, M406I, and F181V) or two others (E68K and K193del) that have been reported in Japan. Three of the six lateâ onset cases, but none of the 16 neonatal cases, had the K193del mutation, which has been reported to be the most common variant of Chinese thrombophilia. A novel mutation of A309V was determined in a family of two patients with late onset.ConclusionsThe genotype of doubleâ PROC mutants might show less diversity than heterozygous mutants in terms of the timing of the onset of thrombophilia (newborn onset or late onset).Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/137364/1/pbc26404_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/137364/2/pbc26404.pd

Clinical Utility of Germline Genetic Testing in Japanese Men Undergoing Prostate Biopsy

Background: Multiple common variants and also rare variants in monogenic risk genes such as BRCA2 and HOXB13 have been reported to be associated with risk of prostate cancer (PCa); however, the clinical setting in which germline genetic testing could be used for PCa diagnosis remains obscure. Herein, we tested the clinical utility of a 16 common variant-based polygenic risk score (PRS) that has been developed previously for Japanese men and also evaluated the frequency of PCa-associated rare variants in a prospective cohort of Japanese men undergoing prostate biopsy. Methods: A total of 1336 patients undergoing first prostate biopsy were included. PRS was calculated based on the genotype of 16 common variants, and sequencing of 8 prostate cancer-associated genes was performed by multiplex polymerase chain reaction based target sequencing. PRS was combined with clinical factors in logistic regression models to assess whether addition of PRS improves the prediction of biopsy positivity. Results: The top PRS decile was associated with an odds ratio of 4.10 (95% confidence interval = 2.46 to 6.86) with reference to the patients at average risk, and the estimated lifetime absolute risk approached 20%. Among the patients with prostate specific antigen 2-10 ng/mL who had prebiopsy magnetic resonance imaging, high PRS had an equivalent impact on biopsy positivity as a positive magnetic resonance imaging finding. Rare variants were detected in 19 (2.37%) and 7 (1.31%) patients with positive and negative biopsies, respectively, with BRCA2 variants being the most prevalent. There was no association between PRS and high-risk rare variants. Conclusions: Germline genetic testing could be clinically useful in both pre- and post-PSA screening settings

ヒト腎癌細胞表面における自己抗体と補体崩壊促進因子の共存に関する研究

本文データは平成22年度国立国会図書館の学位論文(博士)のデジタル化実施により作成された画像ファイルを基にpdf変換したものである京都大学0048新制・論文博士博士(医学)乙第8045号論医博第1414号新制||医||552(附属図書館)UT51-93-B317(主査)教授 湊 長博, 教授 日合 弘, 教授 吉田 修学位規則第4条第2項該当Doctor of Medical ScienceKyoto UniversityDFA

尿管ポリープの膀胱内脱出を伴った巨大尿管結石の1例

We report a case of a benign fibroepithelial polyp of the lowermost ureter, which prolapsed into the bladder and was associated with a huge, impacted ureteral stone. The polyp was considered to have resulted from chronic irritation of the ureteral mucosa caused by the stone. Review of the literature showed that six out of 74 reported cases had concomitant stones but the polyp was apparently caused by the calculi in only one case

副腎腫瘍と鑑別が困難であった肝血管腫の1例

62歳男.原発性副甲状腺機能亢進症及びCTにて偶然発見された腹部腫瘤の精査加療の為当科受診, 超音波断層法, CT, MRIにて4.0×2.5cmの内部不均一な腫瘍を肝と右腎の間に認めた.超音波カラードプラ法では明かな血流を認めず, 副腎機能は正常であった.原発性副甲状腺機能亢進症及び内分泌非活性型副腎腫瘍の診断にて, まず副甲状腺腫瘍摘除術を施行した.その3週間後腹腔鏡的右副腎摘除術を施行した所, 腫瘍は肝より発生しており, 開放的肝部分切除術を施行した.腫瘍は病理組織にて肝海綿状血管腫であったA rare case of exophytic hepatic hemangioma preoperatively diagnosed as a non-functioning adrenal tumor is reported. A 62-year-old man was admitted for treatment of primary hyper-parathyroidism and an incidental adrenal tumor. A 4.0 x 2.5 cm heterogeneous tumor located between the liver and the right kidney was detected by abdominal ultrasonography, computed tomography and magnetic resonance imaging. Color doppler images revealed no apparent blood flow. Since the tumor seemed to have originated from the liver under laparoscopy, an open partial hepatectomy was performed. Histopathological examination revealed cavernous hemangioma of the liver. When diagnosing non-functioning right adrenal tumor, it may be necessary to carefully rule out an exophytic liver tumor

盲腸を利用して虫垂導尿路の延長を図った虫垂臍ストーマMainz pouchの1例

53歳男.8cmの虫垂の遠位側3cmに強い炎症性狭窄が術中に判明した症例で, 盲腸部をGIA自動縫合器を用いて管状化することにより, 虫垂道尿管路の延長(4cmの延長で径9cm)を図った.得られた遊離虫垂をMitrofanoff法でパウチ吻合を行い, 盲腸即断端を臍窩と吻合した.術後経過は順調で, 軽度ストーマ狭窄はあるもののブジーのみで軽快し, 良好な結果が得られたThe Mainz pouch with appendix-umbilical stoma is a very stable method for continent, self-catheterizable urinary reservoir in the presence of a healthy appendix. If the appendix is too short or an unexpected stenosis is seen at its distal portion, the elongation of the conduit using a part of the cecum and the implantation of the conduit to the pouch by the Mitrofanoff method can be a good alternative procedure. We herein report our experience in a 53-year-old male with high grade, invasive bladder tumor, who underwent cystourethrectomy and appendix Mainz pouch operation using the above technique

Laparoscopic Radical Prostatectomy: Oncological and Functional Results

Summary. Between December 1999 and December 2004, 160 patients with organ-confined prostate cancer underwent laparoscopic radical prostatectomy (LRP) by two surgeons with many different assistants. The patients were divided into two groups in order of the date of surgery. Groups I and II consisted of 66 and 94 patients who were operated on between December 1999 and March 2002 and between April 2002 and December 2004. Group I was subdivided into Group I-a and Group I-b: Group I-a consisted of 36 patients who underwent LRP at Tenri Hospital and Group I-b consisted of 30 patients who underwent LRP at the other institutions in the same period. The patients in Group I-b were evaluated only for operative morbidity and excluded from analysis of oncological outcome because of insufficient pathological data. Mean operative time and mean blood loss including leaked urine in Group II were 291 ± 57.2 min (range 145-425 min) and 401.0 ± 323.7 g (range 14-1859 g). There was no blood transfusion in Group II and no operative conversion to an open retropubic radical prostatectomy (RRP). Mean postoperative urethral catheter indwelling period and mean postoperative hospital stay were 4 ± 4.8 days (range 3-28) and 8 ± 4.5 days (range 4-25) in Group II, respectively. Positive surgical margin was detected in 18/130 cases (13.8%) for all pathological stages in this series, but 7/105 cases (6.6%) with pT2 and pT0 disease. Positive surgical margin was detected at the apical margin most frequently. To achieve earlier recovery of urinary continence, a ligation of the dorsal vein complex (DVC bunching) was decided against and substituted by closure of DVC stump with a vertical running suture for hemostasis. In the latter group in Group II, 55% and 87% of the patients were almost dry at 1 and 3 months postoperatively, respectively. Eight of 31 patients (25.8%) who had preserved unilateral neurovascular bundle (NVB) regained potency to be able to carry out sexual intercourse between 6 147 1 Department of Urology, Tokai University School of Medicine, Bohseidai, Isehara, Kanagawa 259-1193, Japan 2 Department of Urology, Tenri Hospital, Tenri, Nara 632-0015, Japan and 15 months postoperatively. Less morbidity, encouraging early oncological results and improved early recovery of urinary continence, are favorable factors for LRP; however, long-term follow-up and consecutive effort to improve the apical section procedure are required for establishment of LRP as a reliable treatment tool for organ-confined prostate cancer

精巣腫瘍に対する化学療法中に心筋梗塞を生じた1例

We report a case of acute myocardial infarction during combined chemotherapy with bleomycin, etoposide and cisplatin for testicular cancer. A 30-year-old smoker without any history of ischemic heart disease complained of sudden chest pain on the ninth day of his third course of chemotherapy. An electrocardiogram showed ST segment elevation in II, III and aVF. Emergency coronary angiography revealed total occlusion of the right coronary artery by a thrombus, which was removed by coronary atherectomy.症例は、30歳、男性。右陰嚢腫大を主訴に当科受診した。理学的所見および超音波検査にて右精巣腫瘍と診断され、右高位精巣摘除術が施行された。病理組織学的所見は、embryonal carcinomaで、臨床病期は、T1N0M0, stageIであった。術後、bleomycin, etoposide, cisplatinによる化学療法を開始したところ、3コースの9日目に心筋梗塞を発症した。緊急冠動脈カテーテル造影検査にて、右冠動脈の完全閉塞を認めたため、経皮的冠動脈血栓除去術を施行し、右冠動脈は再開通した。本症例における心筋梗塞の原因として、シスプラチンによる低マグネシウム血症と喫煙が考えられた。(著者抄録