Identification of COL3A1 and RAB2A as novel translocation partner genes of PLAG1 in lipoblastoma.

Lipoblastoma is a rapidly growing, benign neoplasm in children. Surgical excision is usually curative, with a recurrence rate of about 20%. Because the histology of lipoblastoma is heterogeneous and overlaps with other lipomatous tumors, some lipoblastoma cases have been difficult to diagnose.

Regeneration of the nerves in the aerial cavity with an artificial nerve conduit --reconstruction of chorda tympani nerve gaps-.

Objectives/hypothesis: Due to its anatomical features, the chorda tympani nerve (CTN) is sometimes sacrificed during middle ear surgery, resulting in taste dysfunction. We examined the effect of placing an artificial nerve conduit, a polyglycolic acid (PGA)-collagen tube, across the gap in the section of the resected chorda tympani nerve (CTN) running through the tympanic cavity.

Methods: The CTN was reconstructed with a PGA-collagen tube in three patients with taste disturbance who underwent CTN resection.

Miglitol increases energy expenditure by upregulating uncoupling protein 1 of brown adipose tissue and reduces obesity in dietary-induced obese mice.

Background: Miglitol is an oral anti-diabetic drug that acts by inhibiting carbohydrate absorption in the small intestine. Recent studies have shown that miglitol reduces obesity in humans and rodents. However, its mechanisms have remained unclear.

Cytopathological features of mammary analogue secretory carcinoma--review of literature.

Mammary analogue secretory carcinoma (MASC) is a recently described salivary gland tumor that morphologically resembles mammary secretory carcinoma and carries the identical ETV6-NTRK3 fusion gene. We report a surgical resected case of MASC in the parotid gland of a 41-year-old man. The cytological smears of a preoperative fine-needle aspiration showed many sheets and crowded clusters of monotonous epithelioid cells with mild atypia, suggestive of monomorphic tumor.

Severe enteropathy caused by α-heavy chain disease lacking detectable M-proteins.

A 57-year-old Japanese man was admitted to our hospital with diarrhea, weight loss and malabsorption. Due to a high serum IgA level, we suspected α-heavy chain disease (α-HCD). However, no monoclonal IgA was detected on protein electrophoresis or immunofixation.

Evaluation of speech intelligibility in short-reverberant sound fields.

Objective: The purpose of this study was to explore the differences in speech intelligibility in short-reverberant sound fields using deteriorated monosyllables. Generated using digital signal processing, deteriorated monosyllables can lack the redundancy of words, and thus may emphasize differences in sound fields in terms of speech clarity.

Methods: Ten participants without any hearing disorders identified 100 monosyllables convolved with eight impulse responses measured in different short-reverberant sound fields (speech transmission index >0.

Residual inhibition of tinnitus induced by 30-kHz bone-conducted ultrasound.

Sounds at frequencies of >24-kHz are classified as ultrasound which cannot be heard by humans if presented by air conduction, but can be perceived if presented by bone conduction. Some research studies involving ultrasonic hearing have reported that tinnitus is masked by bone-conducted ultrasound (BCU). However, little is known about residual inhibition (RI), which is a continuous reduction or disappearance of tinnitus after presentation of BCU.

Identification of the 12q15 amplicon within the homogeneously staining regions in the embryonal rhabdomyosarcoma cell line RMS-YM.

Gene amplification represents one of the molecular mechanisms of oncogene overexpression in many types of tumors. Homogeneously staining regions (HSRs) are cytogenetic hallmarks of gene amplification. Rhabdomyosarcoma is the most common malignant soft-tissue tumor in children.

Snail-induced epithelial-mesenchymal transition promotes cancer stem cell-like phenotype in head and neck cancer cells.

Head and neck squamous cell carcinoma (HNSCC) is known to have a poor prognosis. The resistance to treatment and distant metastasis are important clinical problems in HNSCC. The epithelial-mesenchymal transition (EMT) is a key process in successful execution of many steps such as the invasion and metastasis for cancer cells.

Evaluation of prosodic and segmental change in speech-modulated bone-conducted ultrasound by mismatch fields.

Speech-modulated bone-conducted ultrasound (BCU) can transmit speech sounds for some profoundly deaf individuals. Hearing aids using BCU are considered to be a novel hearing system for such individuals. In our previous study, the speech discrimination for speech-modulated BCU was objectively confirmed using a magnetoencephalography.

The prevalence and characteristics of metabolic syndrome in patients with vertigo.

Objectives/hypothesis: Metabolic syndrome (MetS) is a condition that increases the risk of coronary artery disease and cerebral infarction. We determined the prevalence of MetS in vertigo patients and clinically investigated the association between MetS and vertigo.

Study Design: Case-control study.

New treatment strategy for cupulolithiasis associated with benign paroxysmal positional vertigo of the lateral canal: the head-tilt hopping exercise.

This study was performed to determine whether a novel treatment was effective against cupulolithiasis associated with benign paroxysmal positional vertigo (BPPV) of the lateral semicircular canal, which is characterized by apogeotropic direction-changing nystagmus. We herein describe our head-tilt hopping (HtH) exercise, which is designed to release otoconial debris strongly adhered to the cupula. The subjects were trained to hop while tilting their heads laterally.

PAX3-NCOA2 fusion gene has a dual role in promoting the proliferation and inhibiting the myogenic differentiation of rhabdomyosarcoma cells.

We analyzed a complex chromosomal translocation in a case of embryonal rhabdomyosarcoma (RMS) and showed that it generates the fusion gene PAX3 (paired box 3)-NCOA2 (nuclear receptor coactivator 2). To understand the role of this translocation in RMS tumorigenesis, we established two types of stable mouse myoblast C2C12 cell lines expressing PAX3-NCOA2 and PAX3-FOXO1A (forkhead box O1A), respectively. Compared with control cells, PAX3-NCOA2 cells grew faster, were more motile, were less anchorage dependent, progressed more quickly through the G1/S phase of cell cycle and showed greater transcriptional activation of the PAX3 consensus-binding site.

Bilateral subclavian steal syndrome with vertigo.

Subclavian steal syndrome (SSS) is usually caused by unilateral subclavian artery (SA) occlusion, and bilateral SSS is very rare. Takayasu's arteritis (TA) is a chronic granulomatous form of vasculitis that affects the SA, most commonly in women aged 15-40 years. We report a rare case of bilateral SSS due to TA in a 52-year-old woman, who exhibited severe vertigo.

Transmastoid approach to the superior semicircular canal: An anatomical study.

Objective: We examined the anatomic features of the top of the superior semicircular canal (SSC) to help guide the surgeon considering resurfacing or plugging of an associated dehiscence, thorough the transmastoid (TM) approach.

Methods: 19 selected cadaveric temporal bones, which had no supralabyrinthine tract, were dissected, and distances between the SSC and various structures within the temporal bone were measured with a, fine caliper.

Results: The average distances from the sino-dural angle, horizontal canal top, and subacurate artery, to the top of the SSC were 31.

Is cartilage conduction classified into air or bone conduction?

Objectives/hypothesis: The aim of this study was to establish the sound transmission characteristics of cartilage conduction proposed by Hosoi (2004), which is available by a vibration signal delivered to the aural cartilage from a transducer.

Study Design: Experimental study.

Method: Eight volunteers with normal hearing participated.

Dyskeratosis congenita complicated by hepatic fibrosis with hepatic vein thrombosis.

We describe the case of 2 male siblings with dyskeratosis congenita (DC). Extensive genetic analysis failed to identify a causative genetic abnormality. The elder brother developed hepatic fibrosis accompanied with hepatic vein thrombosis at the age of 9 years.

Non-tuberculous mycobacterial infection of the parotid gland in an immunocompetent elderly patient.

We experienced an extremely rare case in which combined antibacterial therapy for a non-tuberculous mycobacteria (NTM) infection of the parotid gland achieved a favourable outcome in an elderly immunocompetent patient. Although a 79-year-old man, who presented with swelling and fistula formation in the left parotid gland region, initially received combined antituberculous therapy due to a positive result of acid-fast staining, the lesion did not respond to these agents. Thereafter, since the culture examination did not detect Mycobacterium tuberculosis or NTM, we excluded tuberculosis and considered the possibility of an NTM infection caused by a rare mycobacterial species.

Acute lymphoblastic leukemia developing in a patient with Noonan syndrome harboring a PTPN11 germline mutation.

Noonan syndrome (NS) is a congenital genetic disorder characterized by certain facial features, short stature, and congenital heart disease. The disorder is caused by genetic alterations in the RAS/MAPK signal pathway. NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported.

Altered somatosensory barrel cortex refinement in the developing brain of Mecp2-null mice.

Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the methyl-CpG binding protein 2 (MeCP2) gene. In previous studies, monoaminergic dysfunctions have been detected in patients with RTT and in a murine model of RTT, the Mecp2-null mouse. Therefore, the pathogenesis of RTT is thought to involve impairments in the monoaminergic systems.

Heparin-binding EGF-like growth factor enhances the activity of invasion and metastasis in thyroid cancer cells.

Thyroid cancer sometimes contains poorly differentiated components, which have the potential of invasion and metastasis. We evaluated the possible roles of heparin-binding EGF-like growth factor (HB-EGF), a member of the epidermal growth factor (EGF) family, in cell growth and invasion of thyroid cancer cells, and demonstrated that HB-EGF is not only a potent mitogen but also a chemotactic factor in the thyroid cancer cells 8305C and SW579. The HB-EGF-mediated chemotaxis was inhibited by neutralizing antibody against the EGF receptor (EGFR/HER1/ErbB1) or tyrphostin AG1478, a specific inhibitor of the EGFR tyrosine kinase.

Effects of chemotherapy on the brain in childhood: diffusion tensor imaging of subtle white matter damage.

Introduction: With reducing mortality in children with hematological malignancies, the survivors' quality of life regarding development of chronic neurological disturbances is important. We aimed to determine whether chemotherapy affects white matter (WM).

Methods: Using brain diffusion tensor imaging, we evaluated 17 patients (15 with acute lymphoblastic leukemia, 2 with non-Hodgkin's lymphoma; 9 male, 8 female; age, 1.

Clinical impact of pentraxin family expression on prognosis of pancreatic carcinoma.

Background: Inflammatory mediators may have decisive roles at different stages of tumour development. Mediators within the pentraxin family may be used as strong biomarkers in prognosis of advanced pancreatic carcinoma patients.

Methods: Using pancreatic carcinoma cell lines and gene transfectant, we measured long pentraxin (PTX3) level in culture solution and carried out cellular migration assay in vitro.

Magnetoencephalographic study on forward suppression by ipsilateral, contralateral, and binaural maskers.

When two tones are presented in a short time interval, the response to the second tone is suppressed. This phenomenon is referred to as forward suppression. To address the effect of the masker laterality on forward suppression, magnetoencephalographic responses were investigated for eight subjects with normal hearing when the preceding maskers were presented ipsilaterally, contralaterally, and binaurally.