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Yoshiki Oitani, Akihiko Ishiyama, Motomichi Kosuga, Kentaro Iwasawa, Ayako Ogata, Fumiko Tanaka, Eri Takeshita, Yuko Shimizu-Motohashi, Hirofumi Komaki, Ichizo Nishino, Torayuki Okuyama, Masayuki Sasaki
BACKGROUND: Diagnosis of Pompe disease is sometimes challenging because it exhibits clinical similarities to muscular dystrophy. CASE: We describe a case of Becker muscular dystrophy (BMD) with a remarkable reduction in activity of the acid α-glucosidase (GAA) enzyme, caused by a combination of pathogenic mutation and polymorphism variants resulting in pseudodeficiency in GAA. The three-year-old boy demonstrated asymptomatic creatine kinase elevation. Neither exon deletion nor duplication was detected on multiplex ligation-dependent probe amplification (MLPA) of DMD...
May 16, 2018: Brain & Development
J Ma, P Fang, D Wang, Y J Liu
The case 1 performanced submandibular trauma because of the faint Suddenly. There were no obvious abnormality in physical examination. CT result showed that the tumour located in the lower clivus, and the atlas was infringed. MRI imaging showed the tumour located in the both sides of the internal carotid artery, infringed clivus and atlas front, forwarded into the nasal cavity and oral cavity. The case 2 performanced the left nose stuffy and increased gradually, nasopharyngeal mirror showed the left nasal cavity filled with new life...
February 2018: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
Pradeep Goyal, Mary Tenenbaum, Sonali Gupta, Puneet S Kochar, Alok A Bhatt, Manisha Mangla, Yogesh Kumar, Rajiv Mangla
Background: Bevacizumab was approved by the FDA for the treatment of recurrent or progressive glioblastoma (GBM). Imaging responses are typically assessed by gadolinium-enhanced MRI. We sought to determine the significance of qualitative diffusion signature (manifest as variable degree of dark signal) on ADC maps in recurrent gliomas after treatment with bevacizumab. Methods: We performed an institutional review board (IRB) approved retrospective study on patients who underwent MRI of the brain after 8 weeks of receiving bevacizumab for recurrent glioma...
April 2018: Quantitative Imaging in Medicine and Surgery
Rieko Nishimura, Yuya Murata, Kiyoshi Mori, Katsushige Yamashiro, Kazuya Kuraoka, Shu Ichihara, Kenichi Taguchi, Hiroyoshi Suzuki, Masahiro Ito, Natsumi Yamashita
OBJECTIVE: We explore the problems associated with the cell block (CB) method for receptor analysis in breast cancer metastases and propose a method for reporting the results. STUDY DESIGN: Nine institutions used the CB method for the analysis of hormone receptors (HRs) and HER2 (human epidermal growth factor receptor 2) protein in cytological specimens of breast cancer metastases in routine practice. The stained slides were independently evaluated by 8 pathologists...
May 15, 2018: Acta Cytologica
Mariana Orduz Robledo, Eve Lebas, Marie-Annick Reginster, Mahmoud Baghaie, Sabine Groves, Arjen F Nikkels
Basal cell carcinoma of the umbilicus is very rare. The nodular subtype is the main representative. Giant basal cell carcinomas represent around 1% of all basal cell carcinomas. The hedgehog pathway inhibitor vismodegib is indicated for advanced basal cell carcinoma and CD56-negative immunostaining seems indicative for successful treatment. A 54-year-old man presented a 10 cm × 14 cm large and 4.5 cm deep morphea-form basal cell carcinoma with faint immunohistochemical CD56 expression arising from the umbilicus...
2018: Rare Tumors
Inderjeet S Sahota, Connor Maxey, Payam Pournazari, Robert S Sheldon
OBJECTIVES: This study elucidated the temporal recurrence patterns of syncope in patients with frequent vasovagal syncope (VVS). BACKGROUND: Understanding the temporal distribution of fainting spells in syncope patients may illuminate biological processes and inform decision making. METHODS: Patients from the POST 2 (Prevention of Syncope Trial 2) were included; all had VVS and fainted ≥4 times in the study year, providing ≥3 interevent intervals (IEIs)...
September 2017: JACC. Clinical Electrophysiology
Kefeng Wu, Changbei Ma, Han Zhao, Hailun He, Hanchun Chen
Ochratoxin A (OTA) is one of the most common mycotoxins contaminating feed and foodstuffs. Therefore, a great deal of concern is associated with AFB1 toxicity. In this work, a fast and sensitive fluorescence aptamer biosensor has been proposed for the OTA assay. In the absence of OTA, the OTA aptamer can form a G-quadruplex structure with thioflavin T (ThT) dye, which results in increased fluorescence. After joining OTA, OTA aptamer combines with OTA and the G-quadruplex can be formed. Only faint fluorescence was finally observed when ThT weakly reacts with the quadruplex...
May 12, 2018: Toxins
Anne-Laure Rougemont, Jean-Christophe Tille
Identification of the yolk sac tumor (YST) component in germ cell tumors (GCT) may prove challenging, and highly sensitive and specific immunohistochemical markers are still lacking. Preliminary data from the literature suggest that HNF1β may represent a sensitive marker of YST. The specificity of HNF1β has not been addressed in GCT. A cohort of 49 YST specimens from 45 patients was designed, occurring either as pure tumors, or as a component of a mixed GCT. Immunohistochemistry was conducted on whole tumor sections using HNF1β...
May 10, 2018: Human Pathology
A Trost, C Runge, D Bruckner, A Kaser-Eichberger, B Bogner, C Strohmaier, H A Reitsamer, F Schroedl
Tissues of the central nervous system (CNS), including the optic nerve (ON), are considered a-lymphatic. However, lymphatic structures have been described in the dura mater of human ON sheaths. Since it is known that lymphatic markers are also expressed by single non-lymphatic cells, these results need confirmation according to the consensus statement for the use of lymphatic markers in ophthalmologic research. The aim of this study was to screen for the presence of lymphatic structures in the adult human ON using a combination of four lymphatic markers...
May 7, 2018: Experimental Eye Research
Yu Hada, Shintaro Takaki, Yasuyuki Aisaka, Yohji Honda, Nami Mori, Keiji Tsuji, Megumu Fujiwara, Takashi Maeda, Yoshinari Furukawa, Kazuaki Chayama
An 83-year-old woman was admitted to our hospital because of a space-occupying lesion (SOL) in the liver. Enhanced computed tomography (CT) showed a nodule measuring 20mm in size in the posterosuperior segment of the right hepatic lobe (S7) and another nodule measuring 14mm in size in the anterosuperior segment of the right hepatic lobe (S8). The margins of these nodules showed faint enhancement in the arterial phase and presented as low-density areas in the equilibrium phase. The S8 SOL could not be easily identified using ultrasonography (US)...
2018: Nihon Shokakibyo Gakkai Zasshi, the Japanese Journal of Gastro-enterology
Marcus Unterrainer, Daniel F Fleischmann, Simon Lindner, Matthias Brendel, Rainer Rupprecht, Joerg C Tonn, Claus Belka, Peter Bartenstein, Maximilian Niyazi, Nathalie L Albert
PET targeting the translocator protein (TSPO) represents an interesting approach for glioma visualization, as TSPO is highly expressed in tumor cells. We present a 32-year-old man with recurrent glioblastoma after multimodal treatment. PET with the novel TSPO ligand F-GE-180 was performed after reirradiation. Here, the previously reirradiated tumor showed a remaining circular TSPO expression. Moreover, cerebrospinal fluid dissemination was detected by a high focal uptake at the right lateral and at the fourth ventricle, whereas only a faint contrast enhancement was present in MRI...
April 30, 2018: Clinical Nuclear Medicine
Francesca Morgante, Angela Matinella, Elisa Andrenelli, Lucia Ricciardi, Cosimo Allegra, Carmen Terranova, Paolo Girlanda, Michele Tinazzi
BACKGROUND: Pain is often experienced by patients with functional dystonia and idiopathic cervical dystonia and is likely to be determined by different neural mechanisms. OBJECTIVE: In this exploratory study, we tested the sensory-discriminative and cognitive-emotional component of pain in patients with functional and idiopathic dystonia. METHODS: Ten patients with idiopathic cervical dystonia, 12 patients with functional dystonia, and 16 age- and sex-matched healthy controls underwent psychophysical testing of tactile and pain thresholds and pain tolerance...
May 8, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
Deborah Saraggi, Francesca Galuppini, Giuseppe N Fanelli, Andrea Remo, Emanuele D L Urso, Ricardo Q Bao, Deborah Bacchin, Vincenza Guzzardo, Claudio Luchini, Chiara Braconi, Fabio Farinati, Massimo Rugge, Matteo Fassan
Poor information is available on the molecular landscape characterizing the carcinogenetic process leading to ampullary carcinoma. MiR-21 is one of the most frequently up-regulated miRNAs in pancreatic adenocarcinoma, a tumor sharing similar molecular features with ampullary adenocarcinomas (AVCs), above all with the pancreatic-biliary type. We profiled, by in situ hybridization (ISH), miR-21 expression in a series of 26 AVCs, 50 ampullary dysplastic lesions (35 low-grade [LG-IEN] and 15 high-grade [HG-IEN]) and 10 normal duodenal mucosa samples...
May 1, 2018: Pathology, Research and Practice
A Shayganfar, A H Sarrami, S Fathi, V Shaygannejad, S Shamsian
BACKGROUND: In primary studies with 3 T Magnets, phase sensitive reconstruction of T1-weighted inversion recovery (PSIR) have showed ability to depict the cervical multiple sclerosis (MS) lesions some of which may not be detected by short tau inversion recovery (STIR). Regarding to more availability of 1.5 T MRI, this study was designed to evaluate the eligibility of PSIR in 1.5 T for detection of spinal cord MS lesions. METHOD: In a study between September 2016 till March 2017 the patients with proven diagnosis of MS enrolled to the study...
April 22, 2018: Multiple Sclerosis and related Disorders
Jing Li, Huan Yao, Yan Lei, Yanyong Ye
INTRODUCTION: Although human intrapleural hyperthermic perfusion (HIHP) has achieved excellent palliative effects in metastatic pleural malignancies, the optimum treatment conditions, including inlet temperature and treatment times based on tumor size, have yet to be determined. However, such information is recognized to be critical for treatment planning in clinics. Therefore, the current research aimed to solve these issues. METHODS: Using the finite-element method (FEM), a simplified three-dimensional HIHP model was established and verified according to the temperature data of specific measuring points based on a clinical therapeutic case...
May 2018: Respiratory Medicine
Zhiqin Lin, Meng Zhao, Xiangrong Li, Junmei Wang, Ping Qiu, Folin Lan, Celin Guan, Dongxia Liao, Dongwei Shen, Jing Lu, Shuanglin Que, Zhongli Jiang
Microcystic meningioma (MM) is a rare subtype of intracranial meningiomas, with clinical and radiologic features not well characterized in the literature. Based on our experience, we propose a classification system of intracranial MMs. We reviewed the medical records, radiographic studies, and operative notes of a group of consecutive patients with intracranial MM. The mean age of the 69 patients was 46.8 ± 10.6 years (range, 21-75 years). Three types of intracranial MMs could be identified. Type 1 MMs presented as a solid lesion, hypointense or isointense on T1WI, hyperintense on T2WI, and homogeneous or heterogeneous enhancement, and were found in 43 patients (67...
May 2, 2018: Neurosurgical Review
Yuriko Zushi, Miho Sasaki, Ayano Mori, Toshiharu Saitoh, Takae Goka, Yumi Aoyama, Yuta Goto, Hiroko Tsunemine, Taiichi Kodaka, Takayuki Takahashi
A diagnosis of acute monocytic leukemia (AML-M5) based on α-naphthyl butyrate esterase (α-NB) staining has some problems, because AML-M5 leukemic cells often show weak or faint positivity on α-NB staining. In these situations, some cases of AML-M5 tend to be misdiagnosed as AML-M0. Therefore, we evaluated the significance of weak or faint α-NB staining in AML-M5 diagnosed by flow cytometry (FCM). Nineteen AML cases in which leukemic cells were negative for naphthol AS-D chloroacetate esterase staining were studied...
March 2, 2018: Hematology Reports
Barbara Beiderbeck, Michael H Myoga, Nicolas I C Müller, Alexander R Callan, Eckhard Friauf, Benedikt Grothe, Michael Pecka
The integration of excitatory and inhibitory synaptic inputs is fundamental to neuronal processing. In the mammalian auditory brainstem, neurons compare excitatory and inhibitory inputs from the ipsilateral and contralateral ear, respectively, for sound localization. However, the temporal precision and functional roles of inhibition in this integration process are unclear. Here, we demonstrate by in vivo recordings from the lateral superior olive (LSO) that inhibition controls spiking with microsecond precision throughout high frequency click trains...
May 2, 2018: Nature Communications
Lucía Albornos, Ignacio Martín, Josefina Hernández-Nistal, Emilia Labrador, Berta Dopico
In this work, we study the function of the Medicago truncatula ST4, ST5 and ST6 proteins that belong to a protein family of unknown function characterized by the DUF2775 domain. Thus, we analyse their promoter sequence and activity, their transcript accumulation, and their subcellular location. The analysis of the three promoters showed different combination of cis-acting regulatory elements and they presented different activity pattern. Throughout development only ST6 mRNAs have been detected in most of the stages analysed, while ST4 was faintly detected in the roots and in the flowers and ST5 was always absent...
April 21, 2018: Plant Physiology and Biochemistry: PPB
Md Shafiqul Islam, Noriyuki Kaji, Shoma Mikawa, Qunhui Yang, Moriaki Kusabe, Masatoshi Hori, Hiroshi Ozaki
Epithelial-mesenchymal transition (EMT) is an orchestral and functional change in epithelial cells. Many signaling pathways are involved in EMT, and transforming growth factor-beta (TGF-β) is considered to be one of the most important factors in induction of EMT. In this study, we treated the rat intestinal epithelial cell line (IEC-6) with TGF-β1 as a signaling stimulant. Gross analysis of IEC-6 cells showed typical characteristics of epithelial cells such as cuboidal morphology and cell-cell contact, whereas treatment with TGF-β1 (10 ng·ml-1 ) for 7 days produced robust, spindle-shaped morphology...
April 24, 2018: Journal of Veterinary Medical Science
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