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A male patient in his 70s was referred to our hospital with the chief complaint of anorexia. Abdominal computed tomography (CT) showed a 20 cm large homogeneous mass in the retroperitoneum, and contrast-enhanced CT revealed uniform staining throughout the inside of the mass. Soluble interleukin-2 receptor and lactate dehydrogenase tumor markers were elevated. Hence, malignant lymphoma was suspected, and ultrasonography-guided biopsy was performed. Histopathological findings showed large lymphocytes with poorly differentiated cytoplasmic nucleoli and positivity for CD20 and CD79a via immunohistochemical analysis, which was consistent with diffuse large B-cell lymphoma. The patient received R-THP-COP therapy which consisted of rituximab, pirarubicin, cyclophosphamide, vincristine and prednisolone. After four chemotherapy courses, a partial response according to the the response evaluation criteria in solid tumors was obtained. The patient was discharged with no signs of recurrence.

Congenital heart diseases often involve maldevelopment of the evolutionarily recent right heart chamber. To gain insight into right heart structure and function, we fine-tuned deep learning models to recognize the right atrium, right ventricle and pulmonary artery, measuring right heart structures in 40,000 individuals from the UK Biobank with magnetic resonance imaging. Genome-wide association studies identified 130 distinct loci associated with at least one right heart measurement, of which 72 were not associated with left heart structures. Loci were found near genes previously linked with congenital heart disease, including NKX2-5, TBX5/TBX3, WNT9B and GATA4. A genome-wide polygenic predictor of right ventricular ejection fraction was associated with incident dilated cardiomyopathy (hazard ratio, 1.33 per standard deviation; P = 7.1 x 10(-13)) and remained significant after accounting for a left ventricular polygenic score. Harnessing deep learning to perform large-scale cardiac phenotyping, our results yield insights into the genetic determinants of right heart structure and function.Genome-wide analyses of cardiac magnetic resonance imaging data identify loci associated with right heart structure and function. A polygenic predictor of right ventricular ejection fraction is associated with dilated cardiomyopathy risk.

A 75-year-old male visited a clinic with the chief complaint of pollakiuria. A computed tomography scan revealed, a left adrenal mass, and the patient was then referred to our hospital. Since a malignant tumor could not be ruled out. We performed laparoscopic left adrenal resection. Postoperative histopathological findings revealed the mass to be a bronchogenic cyst, which had no continuity with the normal adrenal gland. The postoperative course was uneventful, and recurrence has not been observed. Retroperitoneal bronchogenic cysts are rare and often difficult to diagnose preoperatively using imaging studies.

Identifying the host genetic factors underlying severe COVID-19 is an emerging challenge. Here we conducted a genome-wide association study (GWAS) involving 2, 393 cases of COVID-19 in a cohort of Japanese individuals collected during the initial waves of the pandemic, with 3, 289 unaffected controls. We identified a variant on chromosome 5 at 5q35 (rs60200309-A), close to the dedicator of cytokinesis 2 gene (DOCK2), which was associated with severe COVID-19 in patients less than 65 years of age. This risk allele was prevalent in East Asian individuals but rare in Europeans, highlighting the value of genome-wide association studies in non-European populations. RNA-sequencing analysis of 473 bulk peripheral blood samples identified decreased expression of DOCK2 associated with the risk allele in these younger patients. DOCK2 expression was suppressed in patients with severe cases of COVID-19. Single-cell RNA-sequencing analysis (n = 61 individuals) identified cell-type-specific downregulation of DOCK2 and a COVID-19-specific decreasing effect of the risk allele on DOCK2 expression in non-classical monocytes. Immunohistochemistry of lung specimens from patients with severe COVID-19 pneumonia showed suppressed DOCK2 expression. Moreover, inhibition of DOCK2 function with CPYPP increased the severity of pneumonia in a Syrian hamster model of SARS-CoV-2 infection, characterized by weight loss, lung oedema, enhanced viral loads, impaired macrophage recruitment and dysregulated type I interferon responses. We conclude that DOCK2 has an important role in the host immune response to SARS-CoV-2 infection and the development of severe COVID-19, and could be further explored as a potential biomarker and/or therapeutic target., 「コロナ制圧タスクフォース」COVID-19疾患感受性遺伝子DOCK2の重症化機序を解明 --アジア最大のバイオレポジトリーでCOVID-19の治療標的を発見--. 京都大学プレスリリース. 2022-08-10.

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Additional file 1: Supplementary Fig. 1.

A 71-year-old man was referred to us with a right renal mass that was discovered by computed tomography (CT) examination for acquired hemophilia and leukemoid reaction. He presented with persistent low-grade fever and purpura on the lower legs caused by acquired hemophilia. Contrastenhanced CT scan showed a right renal tumor 6.0×7.4 cm in diameterwith inhomogeneous enhancement. The result of his urine cytology was negative. After improvement of his coagulation by treatment with immunosuppressants and steroids, he underwent open nephrectomy. Histology of renal tissue revealed urothelial carcinoma (G3, pT4, N1). After surgery, his complete blood counts and coagulation improved without administration of immunosuppressants and steroids. Therefore, he was diagnosed with renal pelvic cancer with acquired hemophilia and leukemoid reaction.

We report an unusual case of mucinous tubular and spindle cell carcinoma (MTSCC) with sarcomatoid change in an 80-year-old Japanese male. In a resected specimen, a grayish-white tumor was found in the left kidney, and several metastases were observed in the right cervical bone and liver. Histologically, most of the main tumor examined showed MTSCC with sarcomatoid change. The transitions between the MTSCC and sarcomatoid components suggested that sarcomatoid transformation had occurred in the MTSCC. Immunohistochemically, the epithelial-mesenchymal transition (EMT)-associated marker ZEB1 was expressed in the sarcomatoid and transitional components. In contrast, ZEB1 expression was negative in the MTSCC component. The present findings support the view that MTSCC with sarcomatoid change represents MTSCC that develops a sarcomatoid component via EMT of the MTSCC component. EMT plays an important role in sarcomatoid change; thus, we conclude that MTSCC with sarcomatoid change is an ‘EMT associated tumor’.

A 64-year-old man took levofloxacin 100 mg three times a day from the day before trans-rectal prostate needle biopsy. He suddenly fell into septic shock about 12 hours after the biopsy. We performed polymyxin B-immobilized fiber-direct hemoperfusion treatment at our intensive care unit. The circle dynamics was stable after five days of observation, and he was discharged seven days after the event. Levofloxacin-resistant Escherichia coli (E. coli ) was detected by blood and urine culture.

1997～1999年に, 3例の化学療法抵抗性精巣腫瘍患者に対し, 自己末梢血幹細胞移植(PBSCT)併用救済大量化学療法(HDC)を行った.3例では4回の救済HDCによるCR, PRはなく, 1例にのみ病理学的CRと長期NEDがえられた.このNED例では総容積の比較的少ない残存の肺腫瘍がHDCの主な対象となったのに対し, 癌死した2例ではマーカーの著明な上昇を伴った化学療法後の再燃腫瘍とリンパ節領域に主病巣を有する巨大腫瘍が標的であった.HDCの副作用, 毒性については, 危惧された治療に苦慮する感染症や出血傾向などを招く重篤な髄内毒性はみられず, PBSCTなどで十分な造血支援が得られた.一方, 髄外毒性としては, 1例にHDC治療終了に伴い消退した一過性の肝機能異常と後遺症化を来たした難聴, 四肢麻痺などの神経毒性を, 1例にうつ症状の重積化といった心因反応に作用した事象がみられた.肝機能障害以外は, いずれも先行の治療時より生じHDCにより増悪した, We reported three cases (42, 20 and 18-year-old men) of advanced nonseminomatous testicular germ cell cancer treated by salvage high-dose chemotherapy (HDC) supported by peripheral blood stem cell autotransplantation. Two cases which had been refractory to (B) EP (bleomycin, etoposide, cisplatin) and VIP (etoposide, ifosfmide, cisplatin) chemotherapies received one course of high-dose CEI (carboplatin 1, 250 mg/m2, etoposide 1, 500 mg/m2 and ifosfamide 7.5 g/m2), and the other case had been refractory to PVB (cisplatin, vinblastine, bleomycin) and VIP chemotherapies received one course of high-dose CEI and high-dose CCT (carboplatin 800 mg/m2, cyclophosphamide 6 g/m2 and thiotepa 720 mg/m2). Only one case achieved an incomplete remission by HDC, which was verified as a pathological complete response at the following salvage surgery, and has been alive with no evidence of disease for 68 months. The others achieved no change of disease following HDC and died from cancer progression. Hepatotoxicity, neurotoxicity and severe depression occurred, but not fatal in 2 cases.

排尿障害を有する38例中21例に塩酸テラゾシン(TE)を, 17例に塩酸タムスロシン(TA)を投与し, 両薬剤の有効性と安全性を検討した.国際前立腺症状スコアで評価した自覚症状はTE投与群・TA投与群とも有意に改善した.最大尿流率や平均尿流率等の他覚症状はTE群で有意に改善したのに対しTA群では改善がみられなかった.高血圧・高脂血症を合併する患者においてTEは降圧及びコレステロール低下作用を示した.安全性についてはTE群・TA群とも高く, 未知の副作用は認めなかった.これらの結果から, TEは高血圧・高脂血症を合併する患者や他覚症状の強い患者に対して, TAは服用コンプライアンスに不安のある患者, 他覚症状は強くないが自覚症状の強い患者等に対して用いるのが妥当と考えられた, Terazosin (TE) and tamsulosin (TA) were allocated randomly to 38 patients who had urinary disturbance accompanying prostatic hypertrophy, and the efficacy and safety of the drugs were examined. Subjective symptoms due to I-PSS were improved significantly in both TE and TA groups. On the other hand, objective symptoms such as the maximum urinary flow and mean urinary flow were improved more in the TE group. TE showed hypotensive and cholesterol-decreasing effects in patients who also had hypertension and hyperlipemia. No unknown adverse reactions were observed in either groups, and the drugs were shown to be highly safe. TE was considered to be useful as the first choice drug for the patients with hypertension and or hyperlipemia and those with severe objective symptoms. TA was considered to be useful for the patients with impaired drug compliance or those with severe subjective symptoms though objective symptoms were not so severe.

1)経尿道的尿管引き抜き術は膀胱部分切除術と比較して, 手術時間及び出血量共に少なく, 更に術後の入院期間も短く, より侵襲の少ない術式である.2)術後の膀胱内再発は14例中7例に認められ, 術後の1, 5年非再発率は69.2, 30.8%であった.一方, 膀胱部分切除群では各々, 57.1, 42.9%であったが, 両群間に有意差を認めなかった, Between August 1986 and December 1998, 19 patients who had renal pelvic and upper ureteral tumors were treated with nephrectomy and transurethral removal of the ureter using the intussusception method. Removal of the ureter failed in 5 patients because of excessive ablasion of the ureter or insufficient electro-resection around the ipsilateral ureteral orifice. Excluding those patients, the safety of the operation and the intravesical recurrence were compared with the outcome in 12 patients undergoing partial cystectomy for similar tumors. The mean operating time was not significantly shorter with the intussusception method compared with partial cystectomy (190.4 versus 251.3 minutes), but the mean blood loss was significantly smaller (187.5 versus 460.2 ml) and the intussusception method did not require a blood transfusion. The mean term of hospitalization was 20.3 days for patients treated by the intussusception method which was significantly shorter than that for patient undergoing partial cystectomy (25.4 days). Intravesical recurrence was found in seven patients (50%) treated by the intussusception method and the 1- and 5-year recurrence-free rates were 69.2% and 30.8% respectively. There was no significant difference in the recurrence-free rates between the two surgical techniques. These results suggest that the intussusception method is superior to partial cystectomy in decreasing the operating time, blood loss and term of hospitalization. It can be an attractive option in selected cases, without increasing the risk of intravesical recurrence.

We report a case of renal metastasis from esophageal carcinoma. The patient was a 74-year-old man, who had undergone an operation for esophageal carcinoma thirteen months previously. He was admitted to our clinic for examination of a right renal mass. Computed tomography (CT) revealed an irregular low density area in the right kidney and angiography showed a hypovascular tumor. Partial nephrectomy was performed. Histological examination revealed squamous cell carcinoma and the diagnosis was metastasis of esophageal carcinoma. Metastatic renal tumors are rarely encountered clinically and, to our knowledge, the present case is only the 16th clinical report of the renal metastasis of esophageal carcinoma in Japan. However, metastasis to the kidney is relatively common at autopsy. It is the fifth most common site of metastasis following the lungs, liver, bones and adrenals. Consequently, patients with malignancy should be followed up while keeping renal metastasis in mind.

19歳男.ボクシング練習中に上腹部正中に軽いパンチを受け, その夜左側腹部の激痛により左腎外傷の疑いで入院となった.腹部理学所見でブルンベルグ兆候を認めた.又, 検査で白血球上昇と腎機能障害を認めた.CTで後腹膜腔に大量の液体貯留を認めた.腹腔内には液体の貯留は無く, 他臓器に損傷も無かった.外傷による左水腎症破裂を考え, 8Frピッグテイルカテーテルを挿入した.穿刺液は尿と確認された.翌日のCTでもまだ液体の大量貯留が確認され, 7Feピッグテイルカテーテルを挿入した.3日目に尿量は正常となったが, ドレナージが不十分で, 腹部鈍痛, 嘔気, 嘔吐など消化器症状があり発熱も継続した為左腎摘出術を施行した.腹膜及び筋膜との癒着は軽度で膿瘍形成もなく, Gerota筋膜ごと腎を摘出した.病理で腎盂尿管移行部狭窄による先天性水腎症と診断された.術後, 消化器症状は改善し10日目に退院した, A 19-year-old male patient was admitted with the chief complaint of left abdominal pain. After receiving a mild punch in the abdomen during boxing exercises, he had severe abdominal pain and was brought to an emergency room. Since abdominal CT scanning revealed the retention of massive fluid in the retroperitoneum, hydronephrotic rupture due to the trauma was diagnosed and nephrectomy was performed. The removed kidney was filled as a result of urinary retention, and congenital hydronephrosis accompanied by the ureteropelvic junction obstruction was macroscopically and pathohistologically diagnosed. Postoperative course was favorable and the patient was discharged on the 10th hospital day.

70歳女.発熱を主訴とし, 急性腎盂腎炎の診断がなされ, 抗生物質の投与で経過観察されていたが腫瘤性病変に消退傾向が認められず悪性腫瘍が疑われ, 精査加療目的のため当科入院した.診断の結果, 悪性腫瘍を否定できず, 脊椎麻酔下で経尿道的膀胱粘膜生検及び膀胱腫瘍切除術を施行した.病理所見では水腎症を呈した尿管・膀胱マラコプラキアと診断された.術後14日後右水腎症の改善は認められず, ステント留置状態で退院となり現在経過観察中である, A 70-year-old woman visited a nearby physician with a chief complaint of fever and was admitted to a hospital with a diagnosis of acute pyelonephritis. After discharge, pyuria persisted and examination revealed an intravesical solid tumor. The patient was referred to this department for close examination and treatment. The right kidney was hydronephrotic. The intravesical tumor that was resected was solid yellowish-white and ranged from the neck of the uterus to both ureteral orifices. In addition, a grain-sized tumoral lesion, was found in the lower part of the ureter and was also resected. There was sclerotic thickening localized to the right intramural ureter, which had a slightly edematous interior. This was considered to be the cause of the hydronephrosis and a ureteral stent was put in place. Pathological diagnosis was given as malacoplakia. With this case, placement of a ureteral stent was chosen based on the findings of a minimal ureteral lesion, a narrow area of scarring in the intramural ureter as a probable cause of hydronephrosis, and a judgement of mild obstruction. A stent is less invasive for patients, but consideration should be given to urinary infection due to long-term placement recurrence of malacoplakia due to the increased risk of infection, and trouble with periodical exchanging of catheters due to aggravated scarring. Absence of pyuria or signs of recurrence after seven months' placement suggests that use of the stent was the best method.

71歳女.腹痛, 排便障害で通院中, 下腹部痛を強く自覚し, 全身状態が悪化したため入院した.入院直後より, 肉眼的血尿を認め, その後尿閉となった.腹部単純X線検査, CT検査では, 膀胱内腔に貯留したガス像と膀胱壁内に多数の気腫を認めた.Foleyカテーテルを留置し, PAPM/BP, FMOXの投与と, 膀胱洗浄を施行したところ, 膿尿, 気腫尿, 血尿, 意識レベルが改善した.その後, 膀胱粘膜の剥離, 脱落が著明に見られ, 全身状態が改善したため, CTにてガス像が消失していることを確認した.自排尿又は自己導尿管理は困難と判断したためカテーテル留置状態のままリハビリ目的で転院となった, Emphysematous cystitis is a rare lower urinary tract infection. Patients with diabetes mellitus, neurogenic bladder, and recurrent urinary tract infection are generally at higher risk of this disease. A 71-year-old woman with neurogenic bladder was referred from the internal medicine department because of urinary retention. Abdominal radiography and computed tomographic (CT) scanning revealed a characteristic accumulation of air in the wall and lumen of the urinary bladder. Emphysematous cystitis was improved by antibiotic therapy and urinary drainage. CT scan was a sensitive method for detecting early signs and confirming the diagnosis.