Rhabdoid tumor predisposition syndrome with renal tumor 10 years after brain tumor

We report a case of rhabdoid tumor predisposition syndrome with a renal tumor developing 10 years after a brain tumor, which demonstrated an unexpectedly favorable outcome. A 2-year-old boy underwent gross total resection of a brain tumor located in the fourth ventricle, and received adjuvant chemotherapy and radiotherapy. At the age of 11 years, a renal tumor was found and nephrectomy was performed. He is currently alive without evidence of disease over 2 years without postoperative therapy. Histologically, rhabdoid cells were observed in both brain and renal tumors. Loss of SMARCB1 (also known as INI1) expression was found in the nucleus of both tumor cells. Genetic testing revealed pathogenic variants of SMARCB1 exon 5 in the renal tumor and SMARCB1 exon 9 in the brain tumor. In addition, heterozygous deletion of 22q11.21-q11.23 containing the SMARCB1 locus was shared by both tumors and this deletion was identified in normal peripheral blood. Considering the histopathological and genetic findings, our case was considered to be rhabdoid tumor predisposition syndrome with atypical teratoid/rhabdoid tumor and late-onset rhabdoid tumor of the kidney.     

Differences in short-term clinical and radiological outcomes depending on timing of balloon kyphoplasty for painful osteoporotic vertebral fracture

Background

Balloon kyphoplasty or vertebroplasty is widely performed as a surgical intervention for osteoporotic vertebral fracture (OVF) and the effects have been investigated in many previous studies. However, the influence of the timing of the procedure on patient outcomes has not been studied formally. The purpose of this study was to investigate differences in the surgical outcomes of OVFs according to the timing of balloon kyphoplasty.

The degeneration of adjacent intervertebral discs negatively influence union rate of osteoporotic vertebral fracture: A multicenter cohort study

Background

With the increasing aging population in developed countries, there has been an associated increased prevalence of osteoporotic vertebral fracture (OVF). Many previous reports have attempted to predict the risk of delayed union associated with OVF. However, the role of endplate failure and the degeneration of adjacent intervertebral discs, and their association with delayed union has received little attention. The aim of this study was to evaluate the endplate fracture and disc degeneration rank as risk factors for delayed union.

In vitro susceptibilites to levofloxacin and various antibacterial agents of 11,475 clinical isolates obtained from 52 centers in 2002

The susceptibilities of bacteria to fluoroquinolones (FQs), especially levofloxacin, and other antimicrobial agents were investigated using 11,475 clinical isolates collected in Japan during 2002. Methicillin susceptible staphylococci, Streptococcus pyogenes, Streptococcus pneumoniae, Moraxella catarrhalis, the family of Enterobactericeae, Haemophilus influenzae and Acinetobacter spp. exhibited stable and high susceptibilities to FQs. The rate of FQs-resistant MRSA was 80 approximately 90%, being markedly higher than that of FQs-resistant MSSA. The FQs-resistance rate of MRCNS was also higher than that of MSCNS, however, it was lower than that of MRSA. No FQs-resistant clinical isolates of Salmonella spp. were detected in any of the surveys. Thirteen of Escherichai coli 696 isolates, 8 of Klebsiella pneumoniae 630 isolates and 33 of Proteus mirabilis 373 isolates produced extended-spectrum beta-lactamase (ESBL), furthermore 6 of 13 in E. coli, 1 of 8 in K. pneumoniae and 14 of 31 ESBL-producing isolates, and in P. mirabilis were FQs resistant. Attention should be focused in the future on the emergence of ESBL in relation to FQs resistance. The rate of FQs-resistant P. aeruginosa isolated from urinary tract infection (UTI) was 40 approximately 60%, while 15 approximately 25% of isolates from respiratory tract infection (RTI) were resistant. IMP-1 type metallo beta-lactamase producing organisms were found in 49 of P. aeruginosa 1,095 isolates, 7 of S. marcescens 586 isolates and 4 of Acinetobacter spp. 474 isolates, respectively. Glycopeptide-resistant enterococci or S. aureus was not found.     

Perceptual, premotor and motor factors in the performance of a delayed-reaching task by subjects with unilateral spatial neglect

We used a computerized delayed-reaching task with a simple reaction time (RT) to investigate the visuo-motor and spatio-temporal performance of right brain-damaged (RBD) patients with unilateral spatial neglect (USN). Fifty-three RBD patients (22 with and 31 without USN) and 25 controls performed the tasks. We recorded the following data: the first RT (RT-1), which is thought to reflect the detection of the target position (the perceptual factor); the second RT (RT-2), which represents the initiation of reaching (the motor initiation aspect of premotor factors); the movement time (MT), which is hypothesized to reflect the "pure" motor component of the task. RBD patients with both USN and hemianopia demonstrated significantly longer RTs towards the left than towards the right for both the RT-1 and the RT-2. Among the RBD patients without hemianopia, the laterality index (left side/right side) of the RT-1 in those with USN was significantly greater than in those without USN or the controls. Among the three groups, there were no significant differences between the laterality indices of either the RT-2s or the MTs. These results suggest that the impairment of leftward movement in RBD patients with USN might be caused primarily by a perceptual impairment rather than an impairment in motor initiation, and is certainly not a "pure" motor impairment.     

Presenilin-2 mutation and polymorphism in Japanese Alzheimer disease patients.

The Asn141Ile mutation of the presenilin 2 gene is responsible for familial early-onset Alzheimer disease found in Volga-German kindreds. However, the genetic influence of presenilin 2 gene on sporadic Alzheimer disease remains unknown. In this study, the frequency of the mutation and genetic association with the presenilin 2 locus were investigated in Japanese sporadic cases. The Asn141Ile mutation was not found in 88 cases of sporadic Alzheimer disease or 13 unrelated cases of familial Alzheimer disease. Fifty cases of late onset sporadic Alzheimer disease and 50 age-matched controls indicated no association with an exon 3 polymorphism of the presenilin 2 gene. These results indicate that the presenilin 2 mutation is not a major cause of Alzheimer disease.     

Risk factors for cognitive decline following osteoporotic vertebral fractures: A multicenter cohort study

Background

Osteoporotic vertebral fractures (OVFs) are the most common cause of intractable back pain and reduced activities of daily living (ADL), which may affect cognitive function. However, no previous studies have reported a change in cognitive function after OVFs. The purpose was to reveal cognitive function changes after OVFs and investigate the risk factors for cognitive decline.

Factors affecting neurological deficits and intractable back pain in patients with insufficient bone union following osteoporotic vertebral fracture

The purpose of this study was to examine factors affecting the severity of neurological deficits and intractable back pain in patients with insufficient bone union following osteoporotic vertebral fracture (OVF). Reports of insufficient union following OVF have recently increased. Patients with this lesion have various degrees of neurological deficits and back pain. However, the factors contributing to the severity of these are still unknown. A total of 45 patients with insufficient union following OVF were included in this study. Insufficient union was diagnosed based on the findings of vertebral cleft on plain radiography or CT, as well as fluid collection indicating high-intensity change on T2-weighted MRI. Multivariate logistic regression analysis was performed to determine the factors contributing to the severity of neurological deficits and back pain in the patients. Age, sex, level of fracture, duration after onset of symptoms, degree of local kyphosis, degree of angular instability, ratio of occupation by bony fragments, presence or absence of protrusion of flavum, and presence or absence of ossification of the anterior longitudinal ligament (OALL) in the adjacent level were used as explanatory variables, while severity of neurological deficits and back pain were response variables. On multivariate analysis, factors significantly affecting the severity of neurological deficits were angular instability of more than 15° [adjusted odds ratio (OR), 9.24 (95% confidence interval, CI 1.49–57.2); P < 0.05] and ratio of occupation by bony fragments in the spinal canal of more than 42% [adjusted OR 9.23 (95%CI 1.15–74.1); P < 0.05]. The factor significantly affecting the severity of back pain was angular instability of more than 15° [adjusted OR 14.9 (95%CI 2.11–105); P < 0.01]. On the other hand, presence of OALL in the adjacent level reduced degree of back pain [adjusted OR 0.14 (95%CI 0.03–0.76); P < 0.05]. In this study, pronounced angular instability and marked posterior protrusion of bony fragments in the canal were factors affecting neurological deficits. In addition, marked angular instability was a factor affecting back pain. These findings are useful in determining treatment options for patients with insufficient union following OVF.     

Quantitative analysis of neurofilament proteins in Alzheimer brain by enzyme linked immunosorbent assay system

The abnormality of cytoskeletal proteins is related to Alzheimer's disease. Because neurofilament proteins (NF) are major cytoskeletal components of neurones, abnormality of NF may be involved in the pathology of disease. In this study, insoluble NF in the grey matter of temporal lobes of Alzheimer and control brains were dissolved in a urea buffer and quantitatively measured by an enzyme linked immunosorbent assay system. No apparent quantitative changes of NF-L and NF-H were found between the Alzheimer and control brains, and there were also no significant differences in the mean molar ratio of NF-L to NF-H between them. However, the relative amount of phosphorylated NF-H in Alzheimer brains was increased in comparison with that in control brains. These results suggest that the increase of phosphorylated NF-H might be accompanied with Alzheimer's disease.     

Activities of antimicrobial agents against 8,474 clinical isolates obtained from 37 medical institutions during 2000 in Japan

A survey was conducted to determine the antimicrobial activity of fluoroquinolones and other antimicrobial agents against 8,474 clinical isolates obtained from 37 Japanese medical institutions in 2000. A total of 25 antimicrobial agents were used, comprising 4 fluoroquinolones, 13 beta-lactams, minocycline, chloramphenicol, clarithromycin, azithromycin, gentamicin, amikacin, sulfamethoxazole-trimethoprim, and vancomycin. A high resistance rate of over 85% against fluoroquinolones was exhibited by methicillin-resistant Staphylococcus aureus (MRSA) and Enterococcus faecium. Isolates showing resistance to fluoroquinolones among methicillin-resistant coagulase-negative Staphylococci, Enterococcus faecalis, and Pseudomonas aeruginosa from UTI accounted for 30-60%. However, many of the common pathogens were still susceptible to fluoroquinolones, such as Streptococcus pneumoniae (including penicillin-resistant isolates), Streptococcus pyogenes, methicillin-susceptible S. aureus (MSSA), methicillin-susceptible coagulase-negative Staphylococci, Moraxella catarrhalis, the Enterobacteriaceae family, and Haemophilus influenzae (including ampicillin-resistant isolates). About 85% of P. aeruginosa isolated from RTI were susceptible to fluoroquinolones. In conclusion, this survey of sensitivity to antimicrobial agents clearly indicated trend for increasing resistance to fluoroquinolones among MRSA, Enterococci, and P. aeruginosa isolated from UTI, although fluoroquinolones are still effective against other organisms and P. aeruginosa from RTI as has been demonstrated in previous studies.