Current diagnostic methods do not sufficiently identify disease-causing pathogens in severe infectious diseasecases. Prompt identification of causative microorganisms would improve the disease outcome because of antimicrobial treatment optimization. Next-generation sequencing (NGS) is a culture-free method that analyzes theentire microbial community within a sample. Metagenomic sequencing allows us to comprehensively and quantitatively obtain the genes in all organisms present in a clinical sample. Previous studies have attempted to identifypathogens using NGS in various infectious diseases; however, there are currently no established standard protocols to identify causative microorganisms. To establish the standard NGS methods for infectious diseases, studieshave been conducted for severe infectious diseases in our laboratory: acute encephalitis and encephalopathy,acute liver failure, acute myocarditis, blood stream infection and febrile neutropenia under immunocompromisedconditions, and respiratory failure. NGS has advantages over current diagnostic methods in identifying causativepathogens in patients with severe infectious diseases. The routine diagnostic workflow using NGS is expected tobe introduced in clinical settings. NGS can potentially be used to comprehensively analyze drug resistance mutations. Because a number of drug resistance mutations have been reported in patients with cytomegalovirus (CMV)infections treated with ganciclovir, full-length antiviral gene mutation analysis was conducted in congenital CMVinfections. Moreover, NGS can reveal the background microbiome in clinical samples of infectious diseases. Recently, we investigated neonatal respiratory distress-associated microorganisms from microbial genes found inplasma and gastric fluid and assessed their relationship with clinical findings. Because NGS is a comprehensiveanalysis, potential solutions, excluding identifying causative pathogens, are expected to be found.

Hemophilia A is an X-linked inherited bleeding disorder caused by a deficiency of coagulation factor VIII(FVIII) that occurs in approximately 1 in 5,000 male births. Patients with plasma factor activity levels < 1% areclassified as having severe hemophilia. To prevent recurrent joint bleeding, which leads to QOL loss due to severearthropathy, patients need to receive regular intravenous infusions (prophylaxis) of FVIII products. However,there are many concerns regarding 1) the requirement of 2–3 times/week venipuncture for intravenous infusion, 2)frequent visits to the hospital (2–3 times/week in childhood), and 3) one-third of patients with severe hemophiliaA developing anti-FVIII neutralizing alloantibodies (inhibitors) toward the infused factor. Given this, patients andtheir caregivers encounter not only physical stress but also mental and social stress. To resolve these problems,prophylaxis with subcutaneous long-acting nonfactor products that improve in vivo thrombin generation is nowsuccessfully employed in hemophilia patients. These nonfactor products caused a paradigm shift in the treatmentand management of hemophilia. The novel agent emicizumab (Hemlibra®) is a recombinant humanized, bispecificmonoclonal antibody that simultaneously binds to activated factor IX and factor X, thereby mimicking the cofactor function of activated FVIII. Emicizumab has been shown to be safe and effective for the prevention of bleedsin patients with severe hemophilia A, both with and without inhibitors, but it has no indication in hemophilia B.One time/2 or 4 weeks administration was required for maintenance therapy. These benefits contributed by thelong half-life and subcutaneous administration make emicizumab an attractive therapeutic option for prophylaxisin infants with severe hemophilia; however, clinical data to inform treatment decisions in infants are almost absent. As the QOL of hemophilia patients and their caregivers is improved by emicizumab administration, emicizumab might be changed as a mainstream treatment for severe hemophilia in all patients, including infants.

Free-electron lasers at Kyoto University and Nihon University were used as mid-infrared (IR) irradiation stimuli for crayfish compound eyes, and two corneal reactions were detected as the amplitude function of electroretinograms and were identified as a fast reaction and a late reaction. This fast reaction is a new discovery. The spectralsensitivities of the two corneal reactions were measured with an electrophysiological technique at eight selectedmid-IR wavelengths in 2 µm steps ranging from 4 to 18 µm. The wavelength at which maximum sensitivity wasreached was 12–14 µm for the fast reaction and 10–12 µm for the late reaction. In addition, adaptation (attenuationand restoration) of the late reaction to repeated mid-IR stimuli was observed.

BACKGROUNDː Axial postural deformities are frequent and disabling complications of Parkinson’s disease(PD). Although several studies have addressed the effects of deep brain stimulation (DBS) on the improvement ofpostural deformities in PD, there is little detailed information about it. In this paper, we report a prospective observational study evaluating the radiological changes in postural deformities after subthalamic nucleus (STN)-DBSin PD patients.METHODSː Of the 53 patients participating in the present study, 48 were completely followed up prospectivelyfor 12 months after surgery. We assessed the coronal Cobb angulation representing scoliosis, the thoracic andlumbar sagittal Cobb angulation representing thoracic kyphosis and lumbar lordosis, and forward tilt angulation.Anteroposterior and lateral X-rays of the whole spine in the standing position were taken preoperatively and at 6and 12 months postoperatively.RESULTSː The number of PD patients with scoliosis defined as over 10 degrees in terms of the coronal Cobbangles was decreased after STN-DBS, 25/48 (52.1%) at 6 months and 23/48 (47.9%) at 12 months, while preoperatively, 30/48 (62.5%) patients had Cobb angles of over 10. The mean coronal Cobb angle was significantly improved after DBS (14.2 ± 12.1 preoperatively, 12.6 ± 12.6 at 6 months after DBS, and 11.4 ± 11.1 at 12 monthsafter DBS). On the other hand, there was no statistically significant improvement in thoracic kyphosis angulation,lumbar lordosis angulation, and forward tilt angulation after STN-DBS.CONCLUSIONSː The coronal Cobb angles indicated that scoliosis was significantly improved after STN-DBS.

今回術前病型診断に難渋した鼠径部ヘルニアの 2 症例を経験したので報告する．症例 1 は 70 歳男性．右鼠径靭帯頭側に 4 cm 大の膨隆を認め，術前 CT で 2021 年度版鼠径部ヘルニア分類（新 JHS 分類）にて内鼠径ヘルニア（以下，分類に従い M3 のように表記）と診断した．術中所見で M3/F2 の併存型鼠径部ヘルニアと診断し TAPP 法で修復した．症例 2 は 82 歳女性．右鼠径靭帯頭側に 6 cm 大の膨隆を認め，身体所見と術前 CT でL2/F1 の併存型鼠径部ヘルニアと診断し TAPP 法で修復した．多断面再構成 CT は検出率が高く客観性があり，ヘルニア分類の診断に有用である．TAPP 法は併存型鼠径部ヘルニアの診断と確実な修復が可能な術式と考える．

MTX 関連リンパ増殖性疾患 (MTX-LPD) は葉酸代謝拮抗剤である methotrexate (MTX) の副作用として知られている．MTX-LPD の多くは節外病変として発症するが，稀に中枢神経系に原発することがある．中枢神経系に原発した MTX-LPD に関する症例の報告は少なく，有効な治療方法は確立されていない．我々は，中枢神経系に原発した MTX-LPD の症例に対し，rituximab，procarbazine，methotrexate および vincristine による原発性中枢神経系リンパ腫の新規治療法である R-MPV 療法を行った症例を経験したため報告する．症例は 56 歳の女性で，頭痛，記憶障害および歩行障害を主訴に受診した．既往歴に関節リウマチがあり，MTX を 25 年間内服していた．頭部 magnetic resonance imaging で左前頭葉および左後頭葉に拡散強調像で高信号を呈し，ガドリニウムで均一に造影される腫瘍性病変を認めた．開頭腫瘍摘出術を行い，MTX-LPD と診断した．MTX を中止して経過を観察したが，腫瘍の退縮が得られなかったため，R-MPV 療法を開始した．治療開始後も明らかな腫瘍退縮が得られず，4 クールを終了した時点で死亡した．MTX-LPD は MTX の中止により腫瘍が退縮することが知られているが，中止しても腫瘍が退縮しない症例では予後が不良であることが想定される．化学療法の効果が限定的であれば，早期の放射線治療の導入や他の化学療法への変更を検討する必要があると考えられた．

症例は 26 歳男性．黒色便を主訴に前医を受診した．上下部消化管内視鏡検査で出血源は特定されず，腹部CT 検査で十二指腸下行脚に 40 mm 大の腫瘤を指摘された．腹部造影 CT では，十二指腸下行脚左側から膵頭部に突出する腫瘤が主膵管を圧排していた．腫瘤中心部の造影効果は不良で，辺縁は早期より濃染を認めた．超音波内視鏡検査で腫瘤周囲の動脈血流が豊富なため生検は実施できなかった．十二指腸原発の消化管間質腫瘍（gastrointestinal stromal tumor: 以下 GIST）や膵頭部原発の神経内分泌腫瘍（neuroendocrine tumor: 以下 NET）を疑い，膵頭十二指腸切除を施行した．腫瘍は十二指腸前面から膵頭部に存在し腹側へ発育する腫瘍であった．病理組織学的検査で腫瘍は 45 mm 大，類円形から楕円形，紡錘形など大小の核を持つ異型細胞が間質に増殖し，膵頭部原発の NET，G2 と診断された．膵 NET は膵腫瘍の約 2％を占め，遺伝的要因のない若年者での報告例は珍しく，文献的考察を含めてここに報告する．