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https://www.readbyqxmd.com/read/28441852/-clinical-presentation-of-kleine-levin-syndrome
#1
Y Hu, J Y Wang, X S Dong, J Li, H Yan, P P Wang, L Zhao, X Z Zhang, F Han
Objective: To analyze the clinical features of Kleine-Levin syndrome (KLS) patients. Methods: Clinical data of 44 patients with KLS of the Sleep Center of Peking University People's Hospital from January 2002 to July 2013 were systematically reviewed. The predisposing factors and clinical presentations were summarized, and compared with the data from a Western KLS study with a large subjects number. Nocturnal polysomnography (PSG) and multiple sleep latency test (MSLT) were conducted during relapse and remission period, respectively...
April 25, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28441845/-personal-evaluation-on-gene-test-to-prevent-birth-defects
#2
Y Qi, Y N Ma, H Pan
No abstract text is available yet for this article.
April 25, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28441827/-colonization-rate-of-clostridium-difficile-in-healthy-children
#3
Y Wang, S Guo, C N Zhao, X W Xu
Objective: To learn the colonization of Clostridium difficile in local healthy children and to investigate the colonization rate and toxin types of Clostridium difficile at different ages. Method: From September 2014 to January 2015 in a case observational study, healthy children's fecal specimens from the health care department of Beijing Children's Hospital were collected. The children were divided into four groups according to age: <1 year old(n=53), 1-<3 years old(n=50), 3-<6 years old(n=50) and 6-<14 years old(n=50) respectively...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441824/-clinical-and-neuroimaging-features-of-acute-encephalopathy-after-status-epilepticus-in-dravet-syndrome
#4
X J Tian, Y H Zhang, A J Liu, X L Yang, Q Zeng, Z X Yang, J T Ye, X Y Liu, Y W Jiang, X R Wu
Objective: To investigate the clinical and neuroimaging characteristics of acute encephalopathy (AE) after status epilepticus (SE) of patients with Dravet syndrome (DS). Method: The clinical data of DS patients who had AE (coma ≥24 h) after SE were retrospectively collected from February 2005 to August 2016 in Peking University First Hospital and SCN1A gene tests were performed.The clinical and neuroimaging features were summarized. Result: Twenty-two patients (9 males and 13 females) with AE were collected among 412 DS patients during follow-up...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441784/tim-3-up-regulation-in-patients-with-gastric-cancer-and-peptic-ulcer-disease
#5
Mahdieh aghavi-Alhosseini, Mohsen Tehrani, Abolghasem Ajami, Alireza Rafiei, Tarang Taghvaei, Laleh Vahedi-Larijani, Hadi Hossein-Nataj, Hossein Asgarian-Omran
Background: T-cell immunoglobulin and mucin domain protein-3 (Tim-3), an inhibitory immunoregulatory receptor, has been recently implicated in tumor biology and tumor-associated immune suppression. In the present study, expression of Tim-3 was evaluated in gastric cancer (GC) and peptic ulcer disease (PUD) at both mRNA and protein levels. Methods: A total of 133 gastric tissue biopsies, comprising 43 from GC cases, 48 from PUD and 42 from non-ulcer dyspepsia (NUD) serving as controls were collected. Additionally, non-neoplastic adjacent tissue biopsies were also obtained from 6 patients with GC...
March 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28441762/replication-and-oncolytic-activity-of-an-avian-orthoreovirus-in-human-hepatocellular-carcinoma-cells
#6
Robert A Kozak, Larissa Hattin, Mia J Biondi, Juan C Corredor, Scott Walsh, Max Xue-Zhong, Justin Manuel, Ian D McGilvray, Jason Morgenstern, Evan Lusty, Vera Cherepanov, Betty-Anne McBey, David Leishman, Jordan J Feld, Byram Bridle, Éva Nagy
Oncolytic viruses are cancer therapeutics with promising outcomes in pre-clinical and clinical settings. Animal viruses have the possibility to avoid pre-existing immunity in humans, while being safe and immunostimulatory. We isolated an avian orthoreovirus (ARV-PB1), and tested it against a panel of hepatocellular carcinoma cells. We found that ARV-PB1 replicated well and induced strong cytopathic effects. It was determined that one mechanism of cell death was through syncytia formation, resulting in apoptosis and induction of interferon stimulated genes (ISGs)...
April 24, 2017: Viruses
https://www.readbyqxmd.com/read/28441623/identification-of-a-macrobrachium-nipponense-c-type-lectin-with-a-close-evolutionary-relationship-to-vertebrate-lectins
#7
Xin Huang, Tingting Li, Min Jin, Shaowu Yin, Wen Wang, Qian Ren
C-type lectins (CTLs) are involved in the innate immune defense of vertebrates and invertebrates against invading pathogens. This study cloned and characterized a novel C-type lectin (MnCTL) of the oriental river prawn, Macrobrachium nipponense. The cloned MnCTL cDNA encompasses an open reading frame of 774 nucleotides and encodes polypeptides of 257 residues. The deduced MnCTL protein contains a single carbohydrate recognition domain (CRD) with an EPN (Glu-Pro-Asn) motif in calcium-binding site 2. Phylogenetic analysis indicated that MnCTL has a closer evolutionary relationship with vertebrate lectins than with invertebrate lectins...
April 22, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28441377/cd4-positive-t-cell-large-granular-lymphocytosis-mimicking-sezary-syndrome-in-a-patient-with-mycosis-fungoides
#8
Ling Zhang, Magali Van den Bergh, Lubomir Sokol
A white woman aged 65 years presented with a macular, nonscaly, nonpruritic, erythematous lesion on her right breast. Test results revealed histological features similar to lichenoid dermatitis and early-phase primary cutaneous T-cell lymphoma with a subtype of mycosis fungoides (MF). Despite topical therapy with steroids, her skin disease continued to progress, so she underwent polymerase chain reaction and gene mutation testing. Two missense mutations were detected. The overall findings supported a diagnosis of co-occurring, CD4-positive large granular lymphocytosis and stage IA MF...
April 2017: Cancer Control: Journal of the Moffitt Cancer Center
https://www.readbyqxmd.com/read/28441029/variable-susceptibility-to-cigarette-smoke-induced-emphysema-in-34-inbred-strains-of-mice-implicates-abi3bp-in-emphysema-susceptibility
#9
Josiah E Radder, Alyssa D Gregory, Adriana S Leme, Michael H Cho, Yanxia Chu, Neil J Kelly, Per Bakke, Amund Gulsvik, Augusto A Litonjua, David Sparrow, Terri H Beaty, James D Crapo, Edwin K Silverman, Yingze Zhang, Annerose Berndt, Steven D Shapiro
RATIONALE: Chronic obstructive pulmonary disease (COPD) is caused by a complex interaction of environmental exposures, most commonly cigarette smoke, and genetic factors. Chronic cigarette smoke exposure in the mouse is a commonly used animal model of COPD. We aimed to expand our knowledge of the variable susceptibility of inbred strains to this model and test for genetic variants associated with this trait. OBJECTIVE: To measure differential susceptibility to cigarette smoke-induced emphysema in the mouse, identify genetic loci associated with this quantitative trait, and find homologous human genes associated with COPD...
April 25, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/28440963/clinical-sequencing-using-a-next-generation-sequencing-based-multiplex-gene-assay-in-patients-with-advanced-solid-tumors
#10
Tadayuki Kou, Masashi Kanai, Yoshihiro Yamamoto, Mayumi Kamada, Masahiko Nakatsui, Tomohiro Sakuma, Hiroaki Mochizuki, Akinori Hiroshima, Aiko Sugiyama, Eijiro Nakamura, Hidehiko Miyake, Sachiko Minamiguchi, Kyoichi Takaori, Shigemi Matsumoto, Hironori Haga, Hiroshi Seno, Shinji Kosugi, Yasushi Okuno, Manabu Muto
Advances in next-generation sequencing (NGS) technologies have enabled physicians to test for genomic alterations in multiple cancer-related genes at once in daily clinical practice. In April 2015, we introduced clinical sequencing using an NGS-based multiplex gene assay (OncoPrime(™) ) certified by the Clinical Laboratory Improvement Amendment. This assay covers the entire coding regions of 215 genes and the rearrangement of 17 frequently rearranged genes with clinical relevance in human cancers. The principal indications for the assay were cancers of unknown primary site, rare tumors, and any solid tumors that were refractory to standard chemotherapy...
April 25, 2017: Cancer Science
https://www.readbyqxmd.com/read/28440912/performance-of-in-silico-tools-for-the-evaluation-of-p16ink4a-cdkn2a-variants-in-cagi
#11
Marco Carraro, Giovanni Minervini, Manuel Giollo, Yana Bromberg, Emidio Capriotti, Rita Casadio, Roland Dunbrack, Lisa Elefanti, Pietro Fariselli, Carlo Ferrari, Julian Gough, Panagiotis Katsonis, Emanuela Leonardi, Olivier Lichtarge, Chiara Menin, Pier Luigi Martelli, Abhishek Niroula, Lipika R Pal, Susanna Repo, Maria Chiara Scaini, Mauno Vihinen, Qiong Wei, Qifang Xu, Yuedong Yang, Yizhou Yin, Jan Zaucha, Huiying Zhao, Yaoqi Zhou, Steven E Brenner, John Moult, Silvio C E Tosatto
Correct phenotypic interpretation of variants of unknown significance for cancer-associated genes is a diagnostic challenge as genetic screenings gain in popularity in the next-generation sequencing era. The Critical Assessment of Genome Interpretation (CAGI) experiment aims to test and define the state of the art of genotype-phenotype interpretation. Here, we present the assessment of the CAGI p16INK4a challenge. Participants were asked to predict the effect on cellular proliferation of ten variants for the p16INK4a tumor suppressor, a cyclin-dependent kinase inhibitor encoded by the CDKN2A gene...
April 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28440899/lissencephaly-expanded-imaging-and-clinical-classification
#12
Nataliya Di Donato, Sara Chiari, Ghayda M Mirzaa, Kimberly Aldinger, Elena Parrini, Carissa Olds, A James Barkovich, Renzo Guerrini, William B Dobyns
Lissencephaly ("smooth brain," LIS) is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The LIS spectrum includes agyria, pachygyria, and subcortical band heterotopia. Our first classification of LIS and subcortical band heterotopia (SBH) was developed to distinguish between the first two genetic causes of LIS-LIS1 (PAFAH1B1) and DCX. However, progress in molecular genetics has led to identification of 19 LIS-associated genes, leaving the existing classification system insufficient to distinguish the increasingly diverse patterns of LIS...
April 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28440896/genome-wide-meta-analysis-identifies-a-novel-susceptibility-signal-at-cacna2d3-for-nicotine-dependence
#13
Xianyong Yin, Chris Bizon, Jeffrey Tilson, Yuan Lin, Ian R Gizer, Cindy L Ehlers, Kirk C Wilhelmsen
Nicotine dependence (ND) has a reported heritability of 40-70%. Low-coverage whole-genome sequencing was conducted in 1,889 samples from the UCSF Family study. Linear mixed models were used to conduct genome-wide association (GWA) tests of ND in this and five cohorts obtained from the database of Genotypes and Phenotypes. Fixed-effect meta-analysis was carried out separately for European (n = 14,713) and African (n = 3,369) participants, and then in a combined analysis of both ancestral groups. The meta-analysis of African participants identified a significant and novel susceptibility signal (rs56247223; p = 4...
April 25, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28440817/effects-of-dopamine-d2-d3-receptor-antagonism-on-human-planning-and-spatial-working-memory
#14
M Naef, U Müller, A Linssen, L Clark, T W Robbins, C Eisenegger
Psychopharmacological studies in humans suggest important roles for dopamine (DA) D2 receptors in human executive functions, such as cognitive planning and spatial working memory (SWM). However, studies that investigate an impairment of such functions using the selective DA D2/3 receptor antagonist sulpiride have yielded inconsistent results, perhaps because relatively low doses were used. We believe we report for the first time, the effects of a higher (800 mg p.o.) single dose of sulpiride as well as of genetic variation in the DA receptor D2 gene (DA receptor D2 Taq1A polymorphism), on planning and working memory...
April 25, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28440797/potential-mechanisms-of-microrna-141-3p-to-alleviate-chronic-inflammatory-pain-by-down-regulation-of-downstream-target-gene-hmgb1-in-vitro-and-in-vivo-studies
#15
W-S Shen, X-Q Xu, N-N Zhai, Z-S Zhou, J Shao, Y-H Yu
The present study aimed to investigate the potential role of microRNA-141-3p (miR-141-3p) in chronic inflammatory pain (CIP) by targeting HMGB1 gene. In the in vitro study, BV2 microglial cells were selected and assigned into blank, lipopolysaccharide (LPS), miR-141-3p mimics, mimics control, miR-141-3p inhibitor, inhibitor control, miR-141-3p mimics+LPS, mimics control+ LPS, miR-141-3p inhibitor+LPS, and inhibitor control+LPS groups. Ninety-six rats were randomly divided into 8 groups (12 rats in each group): blank control, model control, negative control (NC), miR-141-3p mimics+CFA, mimics control+CFA, HMGB1 shRNA+CFA, HMGB1 NC+CFA, and miR-141-3p mimics+HMGB1 shRNA+CFA groups...
April 25, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28440714/hypereosinophilic-syndrome-endomyocardial-biopsy-versus-echocardiography-to-diagnose-cardiac-involvement
#16
Joseph H Butterfield, Garvan C Kane, Catherine R Weiler
OBJECTIVE: To compare echocardiograms and endomyocardial biopsies to diagnose cardiac involvement in hypereosinophilic syndrome. METHODS: We examined the agreement between echocardiography and endomyocardial biopsies to detect cardiac involvement in hypereosinophilic syndrome by reviewing cases identified as hypereosinophilia or hypereosinophilic syndrome in Mayo Clinic databases from January 1978 through June 2009. Single-organ cases of eosinophilia such as eosinophilic fasciitis and eosinophilic gastroenteritis were excluded...
April 25, 2017: Postgraduate Medicine
https://www.readbyqxmd.com/read/28440700/selection-and-assessment-of-plant-growth-promoting-rhizobacteria-pgpr-for-biological-control-of-multiple-plant-diseases
#17
Ke Liu, Molli Newman, John A McInroy, Chia-Hui Hu, Joseph W Kloepper
A study was designed to screen individual strains of plant growth-promoting rhizobacteria (PGPR) for broad-spectrum disease suppression in vitro and in planta. In a preliminary screen, 28 of 196 strains inhibited eight different tested pathogens in vitro. In a secondary screen, these 28 strains showed broad spectrum antagonistic activity to six different genera of pathogens, and 24 of the 28 strains produced five traits reported to be related to plant growth promotion, including nitrogen fixation, phosphate solubilization, indole-3-acetic acid (IAA) production, siderophore production, and biofilm formation...
April 25, 2017: Phytopathology
https://www.readbyqxmd.com/read/28440476/exploration-of-mir-1202-and-mir-196a-in-human-endometrial-cancer-based-on-high-throughout-gene-screening-analysis
#18
Hong Chen, Yujuan Fan, Wensheng Xu, Junying Chen, Yugang Meng, Di Fang, Jingran Wang
Altered microRNA (miRNA) expression has been reported to participate in the pathogenesis of several human diseases, and particularly cancer. The present study examined the involvement of various miRNAs in the pathophysiology of endometrial cancer (EC) and atypical endometrial hyperplasia (AEH). We performed a high-throughput analysis of the miRNAs (miRNA microarray) found in samples of endometrial tissue obtained from 45 patients; among whom, 15 patients were diagnosed with EC, 15 patients were diagnosed with AEH, and the remainder were healthy donors...
April 24, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28440475/a-nine-mirna-signature-as-a-potential-diagnostic-marker-for-breast-carcinoma-an-integrated-study-of-1-110-cases
#19
Dan-Dan Xiong, Jun Lv, Kang-Lai Wei, Zhen-Bo Feng, Ji-Tian Chen, Ke-Cheng Liu, Gang Chen, Dian-Zhong Luo
Growing evidence indicates that microRNAs (miRNAs) play critical roles in the initiation and progression of breast carcinoma (BC) and are promising diagnostic biomarkers. In the present study, we aimed to identify a multi-marker miRNA pool with high diagnostic performance for BC. We collected miRNA expression profiles of BC samples and normal breast tissues from The Cancer Genome Atlas (TCGA) and screened differentially expressed miRNAs by conducting two‑sample t-tests and by calculating log2 fold-change (log2FC) ratios...
April 25, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28440438/loss-of-heterozygosity-in-fancg-fancf-and-brip1-from-head-and-neck-squamous-cell-carcinoma-of-the-oral-cavity
#20
Christin Türke, Susanne Horn, Carola Petto, Dirk Labudde, Günter Lauer, Gretel Wittenburg
Recent advances have been made in the understanding of Fanconi anemia (FA), a hereditary disease that increases the risk for head and neck squamous cell carcinomas (HNSCC) by 500- to 700-fold. FA patients harbour germline mutations in genes of cellular DNA repair pathways that are assumed to facilitate the accumulation of mutations during HNSCC development. Mutations in these FA genes may also contribute to HNSCC in general. In the present study, we analysed three FA genes; FANCF, FANCG and BRIP1, that are involved in the repair of DNA inter strand cross-links, in HNSCC and their potential role for patient survival...
April 24, 2017: International Journal of Oncology
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