Effect of Asfotase Alfa on Muscle Weakness in a Japanese Adult Patient of Hypophosphatasia with Low ALP Levels.

A 40-year-old Japanese woman presented to our hospital with general fatigue and muscle weakness. She had a history of premature loss of deciduous teeth at 4 years old, her serum alkaline phosphatase (ALP) activity was as low as 91 U/L, and radiologic studies revealed thoracic deformity and sacroiliac calcification. Genetic sequencing revealed a heterozygous c.

Key diagnostic characteristics of fever of unknown origin in Japanese patients: a prospective multicentre study.

Objective: To identify the key diagnostic features and causes of fever of unknown origin (FUO) in Japanese patients.

Design: Multicentre prospective study.

Setting: Sixteen hospitals affiliated with the Japanese Society of Hospital General Medicine, covering the East and West regions of Japan.

Digital Mammographic Features of Breast Cancer Recurrences and Benign Lesions Mimicking Malignancy Following Breast-Conserving Surgery and Radiation Therapy.

Mammography after breast-conserving surgery and radiation therapy is an important tool for followup. Early diagnosis of local recurrence enables prompt treatment decisions, which may affect patient prognosis. For complicated post-treatment changes, radiologists sometimes have difficulties in interpreting follow-up mammography.

Laparoscopic transhiatal suture closure for spontaneous esophageal rupture: a case report.

Background: Spontaneous esophageal rupture is a rare but serious disease with high mortality. Conservative treatment and endoscopic therapy have been reported, but surgical treatment is still a basic modality of therapy. In addition to thoracotomy, recent studies have reported treatment with thoracoscopic surgery and laparoscopic transhiatal repair.

Proton Beam Therapy for Histologically or Clinically Diagnosed Stage I Non-Small Cell Lung Cancer (NSCLC): The First Nationwide Retrospective Study in Japan.

Purpose: To investigate the efficacy and safety of proton beam therapy (PBT) for the treatment of stage I non-small cell lung cancer (NSCLC).

Methods And Materials: Six hundred sixty-nine patients with 682 tumors histologically or clinically diagnosed stage I NSCLC according to the seventh edition of Union for International Cancer Control who received passive-scattering PBT from April 2004 and December 2013 in Japan were retrospectively reviewed to analyze survival, local control, and toxicities.

Results: Of 669 patients, 486 (72.

ABCC11 gene polymorphism as a potential predictive biomarker for an oral 5-fluorouracil derivative drug S-1 treatment in non-small cell lung cancer.

Purpose: ABCC11/MRP8 (ABCC11) is an ATP-binding cassette transporter that is involved in regulating cellular sensitivity and resistance for many anti-cancer drugs. Since 5-fluorouracil (5-FU) is one of the substrates for ABCC11, we examined whether ABCC11 is a predictive marker for an oral 5-FU derivative drug S-1 treatment in non-small cell lung cancer (NSCLC).

Methods: Real-time PCR and MTS assay were carried on 21 human NSCLC cell lines.

Standardization of phototherapy for neonatal hyperbilirubinemia using multiple-wavelength irradiance integration.

Background: Phototherapy with radiation of 460-490 nm wavelengths provides the most potent therapeutic effect for neonatal jaundice. However, the efficacy of phototherapy has been estimated using single-wavelength detectors with sensitivity at approximately 460 nm. Cyclobilirubin formation capacity (CFC), which comprises the sum of the irradiance values from three wavelengths multiplied by their specific coefficients, has been proposed as an alternative marker to evaluate the efficacy of phototherapy.

Visibility of the hilar lymph nodes using advanced virtual monoenergetic low-keV images for preoperative evaluation of lung cancer.

Objective: The purpose of our study was to evaluate the visibility of the hilar lymph nodes (LNs) using advanced virtual monoenergetic low-keV images compared with early-phase contrast-enhanced CT.

Methods: Dual energy contrast-enhanced CT was performed for pre-operative evaluation of lung cancer at 20 and 60 s after administration of contrast media in 50 patients (32 males and 18 females; mean age, 69 years). Five kinds of images (A: 20 s/120 kV; B: 60 s/40 keV; C: 60 s/50 keV; D: 60 s/120 kV; E: 60 s/100 kV) were reconstructed.

A severe case of Menkes disease with repeated bone fracture during the neonatal period, followed by multiple arterial occlusion.

Menkes disease (MD) is a lethal infantile neurodegenerative disorder with X-linked inheritance, characterized by progressive neurodegenerative symptoms caused by pathogenic variants in the ATP7A. Early diagnosis and treatment are important, although the diagnosis is difficult prior to 2 months of age. We present an unusually severe case of MD with skull fractures at the birth and repeated fractures during the neonatal period, with further examinations leading to diagnosis.

Epithelioid variant of gastrointestinal stromal tumor harboring PDGFRA mutation and MLH1 gene alteration: A case report.

Gastrointestinal stromal tumors (GISTs) are the most important and common mesenchymal tumors of the gastrointestinal tract, especially in the stomach. GISTs are usually driven by activating mutations in either KIT or PDGFRA genes. It is known that activating gene mutations predicts, to a certain extent, not only the morphology of the tumor cells but also a response to treatment with tyrosine kinase inhibitors.

Liver phantom design and dosimetric verification in participating institutions for a proton beam therapy in patients with resectable hepatocellular carcinoma: Japan Clinical Oncology Group trial (JCOG1315C).

Background And Purpose: In Japan, the first domestic clinical trial of proton beam therapy for the liver was initiated as the Japan Clinical Oncology Group trial (JCOG1315C: Non-randomized controlled study comparing proton beam therapy and hepatectomy for resectable hepatocellular carcinoma). Purposes of this study were to develop a new dosimetric verification system and to carry out a credentialing for the JCOG1315C clinical trial.

Materials And Methods: Accuracy and differences in doses in proton treatment planning among participating institutions were surveyed and investigated.

Adalimumab Dose-Escalation Therapy Is Effective in Refractory Crohn's Disease Patients with Loss of Response to Adalimumab, Especially in Cases without Previous Infliximab Treatment.

Background/aims: Adalimumab dose escalation is one of the most important options in refractory Crohn's disease patients with loss of response to adalimumab. The goal of this study was to evaluate the effectiveness of adalimumab dose escalation in Crohn's disease patients with loss of response to adalimumab, since there are few reports of adalimumab dose escalation, especially in East Asia.

Methods: The clinical response to adalimumab dose escalation in Crohn's disease patients with loss of response to adalimumab was evaluated retrospectively, using the Crohn's disease activity index score, serum C-reactive protein levels, and endoscopic analyses.

Pulmonary Mycobacterium abscessus Subspecies abscessus Disease That Showed a Discrepancy Between the Genotype and Phenotype of Clarithromycin Resistance.

Mycobacterium abscessus subspecies abscessus is major subspecies in the M. abscessus complex and is usually refractory to standard antibiotherapy. Genetic tracing of erm (41) T28 is a mechanism for monitoring macrolide resistance.

Proton therapy for non-squamous cell carcinoma of the head and neck: planning comparison and toxicity.

To investigate optimal treatment planning using proton beams for non-squamous cell carcinoma of the head and neck (NSCHN), the dose distributions of plans involving pencil beam scanning (PBS) with or without a patient-specific aperture system (PSAS), passive-scattering proton therapy (PSPT) and X-ray intensity-modulated radiotherapy (IMRT) were compared. As clinical results, toxicities of PBS with PSAS, including changes in quality of life, were reported. Between April 2014 and August 2016, a total of 30 patients were treated using PBS with PSAS.

Changes in the Proliferation Rate, Clonogenicity, and Radiosensitivity of Cultured Cells During and After Continuous Low-Dose-Rate Irradiation.

We investigated the effects of continuous low-dose radiation on proliferation, clonogenicity, radiosensitivity, and repair of DNA double-strand breaks (DSBs) in human salivary gland (HSG) tumor cells. Human salivary gland cells were cultured on acrylic boards above very-low-dose (4.3 μSv/h) or low-dose (27 μSv/h) radiation-emitting sheets or without sheets.

An Analysis of Time to Improvement in Oxygenation in Japanese Preterm and Late Preterm or Term Neonates With Hypoxic Respiratory Failure and Pulmonary Hypertension.

Purpose: We analyzed data from an ongoing registry to determine time to improvement in oxygenation in preterm and late preterm or term neonates with hypoxic respiratory failure and pulmonary hypertension receiving inhaled nitric oxide (iNO) in Japan.

Methods: Registry neonates received iNO ≤7 days after birth (February 26, 2010, to October 9, 2012). Efficacy and safety profile data were collected up to 96 h after iNO initiation and, if necessary, every 24 h thereafter and before iNO discontinuation.

Diagnostic Accuracy and Interobserver Agreement for the Vesical Imaging-Reporting and Data System for Muscle-invasive Bladder Cancer: A Multireader Validation Study.

A Vesical Imaging-Reporting and Data System (VI-RADS) based on multiparametric magnetic resonance imaging (mp-MRI) was developed to provide accurate information for the diagnosis of muscle-invasive bladder cancers (MIBCs). In this study we evaluated the interobserver agreement and diagnostic performance of VI-RADS. We retrospectively evaluated data for 74 consecutive patients with bladder cancer who had undergone mp-MRI before transurethral resection in a single institution from January 2010 to August 2018.

Transient increases in serum α fetoprotein and protein induced by vitamin K antagonist II levels following proton therapy does not necessarily indicate progression of hepatocellular carcinoma.

Transient increases in α-fetoprotein (AFP) and protein induced by vitamin K antagonist II (PIVKA-II), so-called flares, are frequently observed after treatment of hepatocellular carcinoma (HCC). In the present study, changes in AFP and PIVKA-II levels after proton therapy (PT), and the relationship between the flare phenomenon and clinical response were investigated. In 82 patients with stage I/II HCC (59 with no recurrence and 23 with out-of-field recurrence within 1 year), serum AFP and PIVKA-II levels were measured at 1, 3, 6, 9 and 12 months post-PT.

Dosimetric verification of IMPT using a commercial heterogeneous phantom.

The purpose of this study was to propose a verification method and results of intensity-modulated proton therapy (IMPT), using a commercially available heterogeneous phantom. We used a simple simulated head and neck and prostate phantom. An ionization chamber and radiochromic film were used for measurements of absolute dose and relative dose distribution.

Intra-individual variations of organophosphate pesticide metabolite concentrations in repeatedly collected urine samples from pregnant women in Japan.

Background: Low-dose exposure to organophosphate (OP) insecticides during pregnancy may adversely affect neurodevelopment in children. To evaluate the OP exposure levels, single urine sampling is commonly adopted to measure the levels of dialkylphosphates (DAPs), common OP metabolites. However, the inter-day variations of urinary DAP concentrations within subjects are supposed to be large due to the short biological half-lives of the metabolites, and it is thus considered difficult to accurately assess OP exposure during pregnancy with single sampling.

Differentiation of Kawasaki Disease From Other Causes of Fever and Cervical Lymphadenopathy: A Diagnostic Scoring System Using Contrast-Enhanced CT.

Objective: The purpose of this study is to determine the characteristic findings of contrast-enhanced CT (CECT) of the neck in patients with Kawasaki disease (KD) and to develop a diagnostic scoring system to facilitate the diagnosis of KD versus other causes of fever and cervical lymphadenopathy.

Materials And Methods: Two blinded radiologists evaluated CECT images of 37 patients with KD and 92 patients without KD who had febrile cervical lymphadenopathy, first independently and then in consensus. Significant findings in CECT images were evaluated through cervical edema and lymph node scores.