Recent Progress In Diagnosis Research Articles

Development of precision medicine in the diagnosis and treatment of colorectal cancer

Precision medicine is a medical model that proposes the individual therapy, with a joint medical method of genomics, proteomics, metabolomics and clinical big data tailored to the individual patient. The diagnosis and treatment of colorectal cancer have entered the model of precision medicine with the entering the era of precision medicine. In this article, authors summarized the recent progress of diagnosis and therapy under the guidance of precision medicine, with an aim to provide some new clues for surgeons and supports for precision prevention, diagnosis and therapy. Key words: Colorectal neoplasms; Precision medicine; Gastrointestinal surgery

Recent progress in diagnosis and treatment of myelodysplastic syndromes

The myelodysplastic syndromes (MDS), which are characterized by the presence of ineffective hematopoiesis and an increased risk of transformation to acute myeloid leukemia (AML), are a group of clonal disorders deriving from damage of the hematopoietic stem/progenitor cells. The 58th American Society of Hematology (ASH) Annual Meeting consists of 5 main subjects, including chronic myelomonocytic leukemia (CMML) and MDS biology and treatment, higher risk MDS clinical studies, lower risk MDS clinical studies, predisposition and diagnosis of MDS, and prognostic and predictive utility of recurrent somatic mutations in MDS. This article will introduce some highlights of the oral reports in this meeting. Key words: Myelodysplastic syndromes; Diagnosis; Prognosis; American Society of Hematology Annual Meeting

Abstract 5016: Elevated serum monocyte chemotactic protein 4 (MCP4) as a novel noninvasive prognostic and predictive biomarker for detection of metastasis in colorectal cancer

Abstract Purpose. Despite the recent progress in diagnosis and treatment for colorectal cancer (CRC), prognosis of CRC patients still remains poor. Metastatic recurrence is the major causes of cancer-related death in CRC patients, and recent progress in treatment options, especially technical advances in invasive treatment for metastatic lesion, have improved the prognosis of CRC patients with metastasis. Furthermore, almost half of patients that receive chemotherapy derive no clinical benefit, though all are exposed to these severe toxic and expensive therapeutic regimens in patients with metastatic CRC patients. In view of these underlying issues, for improvement of patient's prognosis, there is a keen interest in developing robust biomarkers that can identify the subset of patients who can benefit from intensive post-treatment surveillance protocols for early detection of recurrence, and prompt decision of appropriate treatment protocol. Herein, we systemically and comprehensively evaluated differentially levels of serum cytokines using array-based techniques to identify novel and reliable serum biomarker to predict metastasis and poor outcome in CRC. Methods. The study design included an initial dual screening phases, and followed by a subsequent clinical validation phase in this study.In discovery phase, we examined cytokine profiling using preoperative serum from two different CRC cohorts (n = 30) to identify differentially expressed serum cytokines in CRC patients with metastasis. In validation phase, serum levels of MCP-4 were assessed in 194 CRC patients by enzyme-linked immunosorbent assay, and their relationships with clinicopathological findings, including recurrence and survival, were investigated. Results. In discovery phase, three cytokines (elevated: MCP-4, ENA-78; decreased:Ckb8-1) were overlapped as a differentially expressed cytokines in serum from CRC patients with metastasis compared those without metastasis. High serum MCP-4 was significantly associated with older age (p = 0.033), advanced T stage (p = 0.029), distant metastasis (p = 0.011) and UICC stage classification (p = 0.006). Cox regression analysis showed that elevated MCP-4 was a significant and independent prognostic factor of disease free survival (HR:2.6, 95%CI:1.0-6.7) and overall survival (HR:2.7, 95%CI:1.3-5.9) in all CRC patients. Furthermore, logistic regression analysis revealed that high serum MCP-4 level was an independent marker in predicting distant metastasis in CRC (OR:3.8, 95%CI:1.3-10.9). Conclusion. Our comprehensive study highlights the clinical feasibility of serum MCP-4 as a prognostic and predictive biomarker for distant metastasis and recurrence in CRC patients. Quantification of serum MCP-4 concentration might support the early detection/prediction of recurrence and may contribute to the prediction of clinical outcomes in CRC. Citation Format: Yoshinaga Okugawa, Yuji Toiyama, Koji Tanaka, Mikio Kawamura, Takahito Kitajima, Tadanobu Shimura, Hiroki Imaoka, Hiroyuki Fujikawa, Susumu Saigusa, Yasuhiro Inoue, Motoyoshi Tanaka, Yasuhiko Mohri, Chikao Miki, Ajay Goel, Masato Kusunoki. Elevated serum monocyte chemotactic protein 4 (MCP4) as a novel noninvasive prognostic and predictive biomarker for detection of metastasis in colorectal cancer. [abstract]. In: Proceedings of the 107th Annual Meeting of the American Association for Cancer Research; 2016 Apr 16-20; New Orleans, LA. Philadelphia (PA): AACR; Cancer Res 2016;76(14 Suppl):Abstract nr 5016.

小児耳鼻咽喉科領域の遺伝性疾患“ムコ多糖症”の診断・治療に関する最近の進歩

小児耳鼻咽喉科領域の遺伝性疾患“ムコ多糖症”の診断・治療に関する最近の進歩

Progress of diagnosis and treatment of fetal and newborn lower urinary tract obstruction

Congenital lower urinary tract obstruction in the fetus and is rare in neonates, but it is identified increasingly in the era of prenatal sonography and resulted in substantial perinatal mortality with lifelong morbidity.Posterior urethral valves, urethral atresia, and prune-belly syndrome are the frequently reported causes of lower urinary tract obstruction.Despite the completion of a randomized trial, the benefit of prenatal intervention with vesicoamniotic shunt placement remains unclear.The management of these disease in fetus and newborns requires appropriate urinary tract decompression, subspecially support, and definitive diagnosis with endoscopy and radiography.Now, the recent progress of diagnosis and treatment of congenital lower urinary tract obstruction were reviewed. Key words: Fetus; Infant, newborn; Congenital lower urinary tract obstruction; Diagnosis; Treatment

Recent progress in diagnosis and classification of ovarian germ cell tumors

Recent progress in diagnosis and classification of ovarian germ cell tumors

The progress of diagnosis and treatment of adolescent varicocele

It is well known that adolescent varicocele is one reason to induce the testicular hypotrophy and potential infertility.Its indication and methods of treatment are controversial.This review provides the recent progress in diagnosis and treatment of adolescent varicocele including the indications and methods of surgical treatment, as well as new information of future researcher in the areas. Key words: Adolescent; Varicocele; Indication; Treatment

Recent progress of diagnosis and treatment in NK cell neoplasms

Aggressive natural killer cell leukemia (ANKL) is a malignant disorder of mature NK cells that is relatively common in East Asia. It is associated with Epstein-Barr virus in more than 80% of patients. The median survival is not more than three months after diagnosis. In a recent survey of 34 cases with ANKL, the median patient age was 40 years and the age distribution followed a bimodal pattern. Morphologically, the ANKL cells varied from large granular lymphocytes to atypical cells with pleomorphic-like appearances. Clinical characteristics include fever, liver dysfunction, hemophagocytic syndrome, and a rapidly progressive course. In one third of patients, tumor cells in peripheral blood or the bone marrow are below 20% at initial presentation, which might lead to diagnostic delay. L-asparaginase-based chemotherapy plus allogeneic hematopoietic stem cell transplantation (HSCT) is a potential therapeutic option with curative intent.As for extranodal NK/T cell lymphoma, nasal type, HSCT could be anticipated to provide survival benefit or a chance of cure for patients in clinical stage II to IV with complete remission at transplantation. However, the optimal stem cell source, timing of transplantation, and preconditioning regimen require further elucidation.

The diagnosis and treatment of pulmonary valve stenosis in children

Pulmonary valve stenosis (PS) is a common congenital heart disease, its early diagnosis and treatment can improve growth and prognosis in children with pulmonary valve stenosis. With the development of the diagnostics and treatment, percutaneous balloon pulmonary valvuloplasty (PBPV) has replaced surgery as the first choice for isolated pulmonary valve stenosis. The article reviews the recent progress in diagnosis and treatment of pulmonary valve stenosis.DOI: http://dx.doi.org/10.3126/ajms.v6i6.12017Asian Journal of Medical Sciences Vol.6(6) 2015 1-5

Pathophysiology and Japanese clinical characteristics in Marfan syndrome.

Marfan syndrome is an autosomal dominant heritable disorder of the connective tissue, caused by mutations of the gene FBN1, which encodes fibrillin-1, a major component of the microfibrils of the extracellular matrix. Fibrillin-1 interacts with transforming growth factor-β (TGF-β), and dysregulated TGF-β signaling plays a major role in the development of connective tissue disease and familial aortic aneurysm and dissection, including Marfan syndrome. Losartan, an angiotensin II blocker, has the potential to reduce TGF-β signaling and is expected to be an additional therapeutic option. Clinical diagnosis is made using the Ghent nosology, which requires comprehensive patient assessment and has been proven to work well, but evaluation of some of the diagnostic criteria by a single physician is difficult and time-consuming. A Marfan clinic was established at the University of Tokyo Hospital in 2005, together with cardiologists, cardiac surgeons, pediatricians, orthopedists, and ophthalmologists in one place, for the purpose of speedy and accurate evaluation and diagnosis of Marfan syndrome. In this review, we discuss the recent progress in diagnosis and treatment of Marfan syndrome, and the characteristics of Japanese patients with Marfan syndrome.

Endocrine diseases: progress in diagnosis and treatments. Topics: I. Anterior lobes of the pituitary; 1. Recent progress in diagnosis and treatment of acromegaly

先端巨大症の診断と治療は近年大きく進歩した．診断については，疾患に対する認知が広まったこと，GH，IGF-I測定法の進歩と標準化により診断，治癒基準が厳格化したこと，また家族性を含む原因，合併症などの病態の解明が進み，早期に診断される症例が増加している．治療については，ソマトスタチンアナログ，ドーパミンアゴニストに加えてGH受容体拮抗薬が使用できるようになり併用療法も含めて選択肢が増加しコントロールが容易になった．またより効果が期待できる新たなソマトスタチンアナログもまもなく登場する．

Recent progress of diagnosis and treatment for immune-mediated hematological diseases. Topics: III. Diagnosis and treatment; 2. Autoimmune hemolytic anemia

Recent progress of diagnosis and treatment for immune-mediated hematological diseases. Topics: III. Diagnosis and treatment; 2. Autoimmune hemolytic anemia

Recent progress of diagnosis and treatment for immune-mediated hematological diseases. Topics: IV. Recent topics; 3. Methotrexate related malignant lymphoma

メトトレキサート（methotrexate：MTX）関連悪性リンパ腫とは，治療のため使用したMTXにより悪性リンパ腫が惹起されてしまった現象を示す．WHO分類ではother iatrogenic immunodeficiency-associated lymphoproliferative disordersに分類され，様々な亜型が出現する．その基礎疾患のほとんどが関節リウマチである．MTXを中止することで約半数の患者のLPDが消退することが明らかになっており，その一部にEpstein-Barr virusの関連が示唆されている一方で，病態は不明な点が多い．本邦での発症率が高いことも指摘されており，その解明には本邦での多施設解析が急務と考えられる．

Recent progress of diagnosis and treatment for immune-mediated hematological diseases. Topics: IV. Recent topics: 1. Reactivation of hepatitis B virus and hepatitis C virus following immunosuppressive therapy

免疫抑制療法後のB型肝炎ウイルス（HBV）再活性化は，ときに致死的となる合併症であり，その対策のポイントはあらかじめリスク評価（スクリーニング検査）を行うことである．再活性化リスクに応じて，抗ウイルス薬の予防投与あるいはHBV-DNAモニタリングによるpreemptive therapyを行うことで，劇症肝炎予防が期待できる．C型肝炎ウイルス再活性化による劇症肝炎はまれであるが，肝硬変，肝がんについて長期フォローアップが重要である．

Clinical analysis of 17 cases of gastric small cell carcinoma

To analyze the clinical data and prognosis of gastric small cell carcinoma (GSCC), summarize recent progress in diagnosis and therapy of this disease reported in the literature, and to provide the theoretical basis for its appropriate treatment. Clinicopathological data of 17 patients with pathologically confirmed GSCC, treated in our hospital between 1999 to 2012, were retrospectively reviewed. There were 16 males and 1 female, ranged from 46 to 75 years (mean 64.6 years). The tumor was located in the gastric cardia in 13 cases, three in the gastric fundus, and one in the gastric body. All the 17 patients received surgery and 10 of them received postoperative adjuvant chemotherapy, one received preoperative adjuvant chemotherapy. Thirteen patients were followed up. Among them, two 1ived for 40 months all along, the other 3 cases died of recurrence and extensive metastasis in 6 month after operation. The median survival was 13.0 months. The median survival of the patients with and without lymph node metastasis were 42 months and 13 months, respectively. The median survival time of stage II and III patients were 24 months and 14 months, respectively. It is difficult to make a definite diagnosis before or during the operation for GSCC. Radical operation could be done according to other gastric cancers and lymph node dissection could be simplified. Postoperative chemotherapy with the same scheme as lung small cell carcinoma may help to improve the outcome and prolong the survival of the patients.

Progress in epidermolysis bullosa: summary of a workshop in CILAD‐2010*

Epidermolysis bullosa (EB), a group of blistering disorders, manifests with fragility of skin and mucous membranes, with considerable phenotypic variability. As many as 15 distinct genes have been shown to harbor mutations inheritable forms of EB. The types and combinations of mutations in these genes and their consequences at the mRNA and protein levels, when placed on the affected individuals' genetic background and the external trauma, explain the spectrum of phenotypes encountered in this disorder. A group of eminent researchers and physician-scientists convened in Cancún, Mexico, as part of the CILAD-2010 Meeting, to discuss the most recent progress in diagnosis and management of patients with EB, with emphasis on development of novel treatment strategies. The information on specific mutations in the candidate genes has been helpful in establishing genotype/phenotype correlations and has formed the basis for prenatal testing and preimplantation of genetic diagnosis for EB. In spite of the progress in molecular genetics of EB, there is no specific and effective treatment, and management of these patients continues to present tremendous clinical challenges. This overview summarizes the presentations and discussions in this international workshop.

Invasive fungal diseases in solid organ transplant recipients: recent progress in diagnosis and treatment

Invasive fungal diseases in solid organ transplant recipients: recent progress in diagnosis and treatment

Diagnosis and treatment of children with pulmonary stenosis

Pulmonary valve stenosis is a common congenital heart disease,and its early diagnosis and treatment can improve growth and prognosis in children with pulmonary valve stenosis.With the development of the diagnostics and treatment,percutaneous balloon pulmonary valvuloplasty has replaced surgery as the first choice for isolated pulmonary valve stenosis.This paper reviews the recent progress in diagnosis and treatment of pulmonary valve stenosis. Key words: Percutaneous balloon pulmonary valvuloplasty; Pulmonary valve stenosis; Surgery; Children

Progress in diagnosis of neuromyelitis optica

Neuromyelitis optica (NMO) is an autoimmune disease of central nervous system involving the optic nerves and spinal. It was considered an optic spinal form of multiple sclerosis (MS) until serum anti aquaporin-4 antibody (NMO IgG) were suggested to be a specific biomarker of NMO, distinguishing it from MS. Longitudinally extensive transverse myelitis (LETM) is suggested to be one of the most characteristic spinal cord lesions of NMO. Wingerchuk criteria and criteria recommended by National Multiple Sclerosis Society (NMSS) task force on differential diagnosis of MS are two main diagnostic criteria of NMO. This review discusses the recent progress in diagnosis of NMO.

Metastatic gastric cancer - focus on targeted therapies.

Gastric cancer (GC) is currently the second leading cause of cancer death worldwide; unfortunately, most patients will present with locally advanced or metastatic disease. Despite recent progress in diagnosis, surgery, chemotherapy, and radiotherapy, prognosis remains poor. A better understanding of GC biology and signaling pathways is expected to improve GC therapy, and the integration of targeted therapies has recently become possible and appears to be promising. This article focuses on anti-Her-2 therapy, specifically trastuzumab, as well as other epidermal growth factor receptor antagonists such as cetuximab, panitumub, matuzumab, nimotzumab, gefitinib, and erlotinib. Additionally, drugs that target angiogenesis pathways are also under investigation, particulary bevacizumab, ramucirumab, sorafenib, sunitinib, and cediranib. Other targeted agents in preclinical or early clinical development include mTOR inhibitors, anti c-MET, polo-like kinase 1 inhibitors, anti-insulin-like growth factor, anti-heat shock proteins, and small molecules targeting Hedgehog signaling.