Mata-Mbemba D.,Tohoku University |
Mugikura S.,Tohoku University |
Nakagawa A.,Tohoku University |
Murata T.,Tohoku University |
And 5 more authors.
Academic Radiology | Year: 2014
Rationale and Objectives: Computed tomography (CT) plays a crucial role in early assessment of patients with traumatic brain injury (TBI). Marshall and Rotterdam are the mostly used scoring systems, in which CT findings are grouped differently. We sought to determine the scoring system and initial CT findings predicting the death at hospital discharge (early death) in patients with TBI. Materials and Methods: We included 245 consecutive adult patients with mild-to-severe TBI. Their initial CT and status at hospital discharge (dead or alive) were reviewed, and both CT scores were calculated. We examined whether each score was related to early death; compared the two scoring systems' performance in predicting early death, and identified the CT findings that are independent predictors of early death. Results: More deaths occurred among patients with higher Marshall and Rotterdam scores (both P<.05, Mann-Whitney U test). The areas under the receiver operating characteristic curve (AUCs) indicated that both scoring systems had similarly good discriminative power in predicting early death (Marshall, AUC=0. 85 vs. Rotterdam, AUC=0.85). Basal cistern absence (odds ratio [OR]=771.5, P<.0001), positive midline shift (OR=56.2, P=.0011), hemorrhagic mass volume≥25mL (OR=12.9, P=.0065), and intraventricular or subarachnoid hemorrhage (OR=3.8, P=.0395) were independent predictors of early death. Conclusions: Both Marshall and Rotterdam scoring systems can be used to predict early death in patients with TBI. The performance of the Marshall score is at least equal to that of the Rotterdam score. Thus, although older, the Marshall score remains useful in predicting patients' prognosis. © 2014 AUR.
Itoi E.,Tohoku University |
Kitamura T.,Kumamoto Orthopaedic Hospital |
Hitachi S.,Tohoku University |
Hatta T.,Tohoku University |
And 2 more authors.
American Journal of Sports Medicine | Year: 2015
Background: Shoulder dislocation often recurs, especially in the younger population. Immobilization in external rotation, in which a Bankart lesion is displaced in the anterior, medial, and inferior directions, was introduced as a new method of nonoperative treatment, but its clinical efficiency is controversial. In terms of reducing the lesion, it is reasonable to incorporate not only external rotation, which makes the anterior soft tissues tight to push the lesion posteriorly and laterally, but also abduction, which makes the inferior soft tissues tight to push the lesion superiorly. Hypothesis: Abducting the arm during immobilization in external rotation will improve the reduction of a Bankart lesion. Study Design: Controlled laboratory study. Methods: There were 37 patients with initial shoulder dislocation enrolled in this study. After reduction, MRI was taken in 4 positions of the shoulder: adduction and internal rotation (Add-IR), adduction and external rotation (Add-ER), 30° of abduction and 30° of external rotation (Abd-30ER), and 30° of abduction and 60° of external rotation (Abd-60ER). On radial slices, the separation, displacement of the labrum, and opening angle of the capsule were measured. Results: Add-ER improved the reduction of the anterior labrum but not the inferior labrum when compared with Add-IR. Both Abd-30ER and Abd-60ER improved the reduction of the inferior labrum as compared with Add-IR. Furthermore, Abd-60ER improved the reduction more than Add-ER. Conclusion: Among the 4 positions tested, Abd-60ER is the best position in terms of reducing the Bankart lesion. Clinical Relevance: Abducting the shoulder during immobilization in external rotation is demonstrated to improve the reduction of the Bankart lesion. Therefore, this position is expected to reduce the recurrence rate after initial dislocation of the shoulder. Future clinical trials are necessary. © 2014 The Author(s).
Kikuchi A.,Tohoku University |
Arai-Ichinoi N.,Tohoku University |
Sakamoto O.,Tohoku University |
Matsubara Y.,Tohoku University |
And 4 more authors.
Molecular Genetics and Metabolism | Year: 2012
Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene and has two disease outcomes: adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency. The clinical appearance of these diseases is variable, ranging from almost no symptoms to coma, brain edema, and severe liver failure. Genetic testing for SLC25A13 mutations is essential for the diagnosis of citrin deficiency because chemical diagnoses are prohibitively difficult. Eleven SLC25A13 mutations account for 95% of the mutant alleles in Japanese patients with citrin deficiency. Therefore, a simple test for these mutations is desirable. We established a 1-hour, closed-tube assay for the 11 SLC25A13 mutations using real-time PCR. Each mutation site was amplified by PCR followed by a melting-curve analysis with adjacent hybridization probes (HybProbe, Roche). The 11 prevalent mutations were detected in seven PCR reactions. Six reactions were used to detect a single mutation each, and one reaction was used to detect five mutations that are clustered in a 21-bp region in exon 17. To test the reliability, we used this method to genotype blind DNA samples from 50 patients with citrin deficiency. Our results were in complete agreement those obtained using previously established methods. Furthermore, the mutations could be detected without difficulty using dried blood samples collected on filter paper. Therefore, this assay could be used for newborn screening and for facilitating the genetic diagnosis of citrin deficiency, especially in East Asian populations. © 2011 Elsevier Inc..
Kunishima S.,Clinical Research Center |
Okuno Y.,University of Tokyo |
Okuno Y.,Nagoya University |
Yoshida K.,University of Tokyo |
And 17 more authors.
American Journal of Human Genetics | Year: 2013
Congenital macrothrombocytopenia (CMTP) is a heterogeneous group of rare platelet disorders characterized by a congenital reduction of platelet counts and abnormally large platelets, for which CMTP-causing mutations are only found in approximately half the cases. We herein performed whole-exome sequencing and targeted Sanger sequencing to identify mutations that cause CMTP, in which a dominant mode of transmission had been suspected but for which no known responsible mutations have been documented. In 13 Japanese CMTP-affected pedigrees, we identified six (46%) affected by ACTN1 variants cosegregating with CMTP. In the entire cohort, ACNT1 variants accounted for 5.5% of the dominant forms of CMTP cases and represented the fourth most common cause in Japanese individuals. Individuals with ACTN1 variants presented with moderate macrothrombocytopenia with anisocytosis but were either asymptomatic or had only a modest bleeding tendency. ACTN1 encodes α-actinin-1, a member of the actin-crosslinking protein superfamily that participates in the organization of the cytoskeleton. In vitro transfection experiments in Chinese hamster ovary cells demonstrated that altered α-actinin-1 disrupted the normal actin-based cytoskeletal structure. Moreover, transduction of mouse fetal liver-derived megakaryocytes with disease-associated ACTN1 variants caused a disorganized actin-based cytoskeleton in megakaryocytes, resulting in the production of abnormally large proplatelet tips, which were reduced in number. Our findings provide an insight into the pathogenesis of CMTP. © 2013 The American Society of Human Genetics.
Tanda N.,Tohoku University |
Hinokio Y.,Sendai City Hospital |
Washio J.,Tohoku University |
Takahashi N.,Tohoku University |
Koseki T.,Tohoku University
Journal of Breath Research | Year: 2014
Ketone bodies including acetone are disease biomarkers for diabetes that sometimes causes severe ketoacidosis. The present study was undertaken to clarify the significance of exhaled acetone and plasma ketone bodies at bedside in a clinical setting. The oral glucose tolerance test (OGTT) was performed in 10 healthy Japanese volunteers (five females and five males). Exhaled breath acetone and volatile sulfide compounds (VSCs) in mouth air were measured simultaneously with blood sampling during the OGTT using a portable gas chromatograph equipped with an In2O3 thick-film type gas sensor and a VSC monitor. Acetone, β-hydroxybutyrate (β-OHB) and acetoacetate (AcAc) in blood plasma as well as glucose and insulin were examined. Oral conditions were examined based on the Community Periodontal Index (CPI) by one dentist. In addition, the same type of analysis was applied to two uncontrolled type 2 diabetes mellitus patients hospitalized at Tohoku University Hospital. Exhaled acetone was measured at the same time as blood withdrawal in the morning before breakfast and at night before bed at the beginning, the middle, and the end of hospitalization. All volunteers showed normal OGTT patterns with no ketonuria and periodontitis; however, there were significant correlations between breath acetone and plasma β-Oβ and between breath acetone and plasma AcAc under fasting conditions. Breath acetone of the type 2 diabetes mellitus patients showed positive correlations with plasma glucose when the level of plasma glucose tended to decrease during hospitalization. In spite of a very limited number of cases, our results support the idea that exhaled breath acetone may be related to plasma β-OHB and AcAc, which reflect glucose metabolism in the body. © 2014 IOP Publishing Ltd.