日本人の遺伝性球状赤血球症におけるankyrin遺伝子変異の解析

日本人における遺伝性球状赤血球症(HS)の病因解析のため,genemic DNAを用いたanlyrin-1 (ANK-1)の遺伝子解析をおこなった.本研究では,HS63家系,67例を対象とした.このうち20家系20例において,HSの病因と推定される19種のANK-1遺伝子異常(frameshift mutation9種, nonsense mutation4種, splicing異常6種)が検出された.これらの遺伝子変異はいずれも,欧米諸国では既報がなく,わが国固有のものと考えられた.日本人のHSにおけるANK-1遺伝子異常は全体の30-50%を占めていると推察された.これらANK-1遺伝子異常を有する症例における赤血球膜蛋白分析の成績では,ankyrin蛋白欠損型を呈した症例は無く,一方でprotein4.2(P4.2)単独部分欠損を呈した症例が17例(85%)認められた.よって,日本人に特徴的とされるP4.2単独部分欠損を伴うHSでは,その多くがankyrin遺伝子異常を有しており,ankyrinがP4.2の安定性に関与している可能性が示唆された.To elucidate the phathogenesis of hereditary spherocytosis (HS) in the Japanese population, we studied the ankyrin-1 (ANK-1) gene of genomic DNA from Japanese patients with HS. Sixty-seven patients from 63 unrelated families were included in this study. Nineteen mutations of the ANK-1 gene pathognomonic for HS from 20 families were identified : nine frameshift mutations, four nonsense mutations, and six abnormal splicing mutations. These mutations have not been previously reported, and are thought to be specific to the Japanese population. The incidence of ANK-1 gene mutations in Japanese HS patients ranges from at the least 30% to 50% of the total HS kindred. At the protein level, ankyrin deficiency was not observed in these 20 patients with ankyrin mutations. In contrast, mild deficiency of protein 4.2 (P4.2) was observed in 17 patients (85%) with ankyrin mutations. Therefore, it is feasible that most cases of HS with a mild deficiency of P 4.2 at the protein level, most common in Japanese HS kindred, are caused by anlyrin mutations

How to evaluate science problem solving in a computerized learning environment? Construction of an analyzing scheme

Περιέχει το πλήρες κείμενοThis paper describes the construction of a ‘computerized science problem solving’ scheme, which enables analysis and evaluation of the effectiveness of science problem-solving by junior high-school students working in a computerized learning environment. The scheme was based on observations of 187 students as they solved qualitative science problems taken from a specific computerized learning environment. Students were also interviewed before and after the problem solving. The scheme is presented on two levels. The large-scale comprises 11 main categories, each sub-divided into sub-categories to yield the detailed-level. The sub-categories were based on a repertoire of activities found in the observation protocols, and were approved by external judgement and a validation process. The detailed-level scheme enables evaluation and statistical analysis of the participants' problem-solving effectiveness, providing substantial evidence for the construct validity of the scheme, and demonstrating its potential as a valid analyzing and evaluative tool for computerized science problem solving

Complications Associated With Spine Surgery in Patients Aged 80 Years or Older: Japan Association of Spine Surgeons with Ambition (JASA) Multicenter Study

Study Design:Retrospective study of registry data.Objectives:Aging of society and recent advances in surgical techniques and general anesthesia have increased the demand for spinal surgery in elderly patients. Many complications have been described in elderly patients, but a multicenter study of perioperative complications in spinal surgery in patients aged 80 years or older has not been reported. Therefore, the goal of the study was to analyze complications associated with spine surgery in patients aged 80 years or older with cervical, thoracic, or lumbar lesions.Methods:A multicenter study was performed in patients aged 80 years or older who underwent 262 spinal surgeries at 35 facilities. The frequency and severity of complications were examined for perioperative complications, including intraoperative and postoperative complications, and for major postoperative complications that were potentially life threatening, required reoperation in the perioperative period, or left a permanent injury.Results:Perioperative complications occurred in 75 of the 262 surgeries (29%) and 33 were major complications (13%). In multivariate logistic regression, age over 85 years (hazard ratio [HR] = 1.007, P = 0.025) and estimated blood loss ≥500 g (HR = 3.076, P = .004) were significantly associated with perioperative complications, and an operative time ≥180 min (HR = 2.78, P = .007) was significantly associated with major complications.Conclusions:Elderly patients aged 80 years or older with comorbidities are at higher risk for complications. Increased surgical invasion, and particularly a long operative time, can cause serious complications that may be life threatening. Therefore, careful decisions are required with regard to the surgical indication and procedure in elderly patients

Risk Factors for Delirium After Spine Surgery in Extremely Elderly Patients Aged 80 Years or Older and Review of the Literature: Japan Association of Spine Surgeons with Ambition Multicenter Study

Study Design:Retrospective database analysis.Objective:Spine surgeries in elderly patients have increased in recent years due to aging of society and recent advances in surgical techniques, and postoperative complications have become more of a concern. Postoperative delirium is a common complication in elderly patients that impairs recovery and increases morbidity and mortality. The objective of the study was to analyze postoperative delirium associated with spine surgery in patients aged 80 years or older with cervical, thoracic, and lumbar lesions.Methods:A retrospective multicenter study was performed in 262 patients 80 years of age or older who underwent spine surgeries at 35 facilities. Postoperative complications, incidence of postoperative delirium, and hazard ratios of patient-specific and surgical risk factors were examined.Results:Postoperative complications occurred in 59 of the 262 spine surgeries (23%). Postoperative delirium was the most frequent complication, occurring in 15 of 262 patients (5.7%), and was significantly associated with hypertension, cerebrovascular disease, cervical lesion surgery, and greater estimated blood loss (P < .05). In multivariate logistic regression using perioperative factors, cervical lesion surgery (odds ratio = 4.27, P < .05) and estimated blood loss ≥300 mL (odds ratio = 4.52, P < .05) were significantly associated with postoperative delirium.Conclusions:Cervical lesion surgery and greater blood loss were perioperative risk factors for delirium in extremely elderly patients after spine surgery. Hypertension and cerebrovascular disease were significant risk factors for postoperative delirium, and careful management is required for patients with such risk factors

ニイミ,ヒデカズ/ カマダ,チカ / ドイ,ミサト/ナカニシ,カズキ / ニシボリ,サキ / ニシヤマ,ジュン / ヒサタケ,タカマサ / マツウラ,ケンゴ / ヤマカワ,アカネ

本稿では,大学のゼミ活動の一環として実践した「河童を用いた想像遊び」について報告した.活動の具体的内容は,ある学童保育で実践している活動(NPO 法人芹川子育て支援部門,2013)を参考にして原案を作成し,活動の場となった幼稚園の園長先生及びクラス担任との協議を経て決定した.協議の結果,5回の活動時間が与えられることとなった.1回あたりの活動時間は30分&#12316;1時間,頻度は週に1回であった.第1回は彦根にいるとされる妖怪を紹介し,第2回と第3回では河童の絵本を読み,第4回目には河童への絵手紙を園児たちに作成させ,第5回目には河童からの返事を手渡した.5回の活動が終了した後,保護者に対し自由記述のアンケートにとったところ,園児たちはすっかり河童の存在を信じ込んだこと,また休日などに親子で河童を探しに近所を散策したことなどが報告された.最後に,今回の活動が園児に及ぼした影響,保護者に及ぼした影響および,本稿執筆者たちに及ぼした影響について論じた

胸水細胞診で形質細胞腫が疑われた血管免疫芽球性Ｔ細胞リンパ腫

血管免疫芽球性Ｔ細胞リンパ腫（angioimmunoblastic T-cell lymphoma: AITL）は新WHO分類において末梢Ｔ細胞 / NK 細胞腫瘍に分類されているＴ細胞性腫瘍である．その臨床像は，全身リンパ節腫大，肝脾腫，発熱，多クローン性高γ グロブリン血症など多様な症状を呈することが知られている．今回，我々は胸水細胞診で形質細胞腫が疑われたAITL を経験したので報告する．症例は80歳代の女性．近医にて気管支喘息治療中に，喘息症状が悪化し，全身の皮疹が出現．両側胸水貯留，CRP 高値が出現したため，精査治療目的で当院紹介となった．血液検査で貧血を認め，末梢血に形質細胞様の異型リンパ球を10％認めた．胸水には大小不同のCD138陽性形質細胞を多数認め細胞診で形質細胞腫が疑われたが，胸水セルブロックではκ・λ の軽鎖制限を認めなかった．骨髄検査では，形質細胞の増加を認めず赤芽球癆の状態であった．皮下腫瘤を生検した結果，AITL と診断した．AITL は，腫瘍細胞が直接的・間接的にサイトカインを産生し，それに起因した多彩な臨床像を呈する．そのため，AITL は反応性に形質細胞の増加を伴うことが多く，本症例は，反応性に胸水中に形質細胞の増加を伴ったと考えられた．また，AITL は赤芽球癆を合併することも報告されている．AITL では，反応性の形質細胞増多を伴う胸水貯留や赤芽球癆をきたす場合があることに注意すべきである．Angioimmunoblastic T cell lymphoma (AITL) is a T cell-related tumor that is classified as a peripheral T cell/natural killer cell tumor according to the new World Health Organization classification. AITL shows various clinical features owing to the cytokines produced directly or indirectly by tumor cells and includes a variety of symptoms, such as general lymphadenopathy, hepatosplenomegaly, fever, and polyclonal hypergammaglobulinemia. AITL is often accompanied by reactive plasmacytosis, and it has been reported that AITL can be complicated by pure red cell aplasia. Here, we report an 80-year-old woman with AITL who was suspected to have a plasma cell tumor by cytological diagnosis of hydrothorax. The patient presented with exacerbated asthmatic symptoms as well as exanthema over her entire body. Moreover, during treatment for bronchial asthma at a local doctor’s clinic, hydrothorax in both lungs and high C-reactive protein levels were observed. She was referred to our hospital for detailed examination and treatment. Blood test results revealed anemia as well as a high proportion of plasma cell-like atypical lymphocytes in the peripheral blood. Specimens of the hydrothorax also contained CD138-positive plasma cells of varying sizes; however, there was no evidence of deviation in light chain limitation. We did not notice elevated plasma cell counts, and the patient was considered to have pure red cell aplasia based on the results of the marrow examination. However, we noted a subcutaneous mass under her shoulder blade. An excisional biopsy was performed, and she was diagnosed with AITL. The patient was considered to have hydrothorax with plasmacytosis as a reaction to AITL. As seen in our case, AITL may cause pleural effusions along with reactive plasmacytosis and pure red cell aplasia