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Paola Origone, Fabio Gotta, Merit Lamp, Lucia Trevisan, Alessandro Geroldi, Davide Massucco, Matteo Grazzini, Federico Massa, Flavia Ticconi, Matteo Bauckneht, Roberta Marchese, Giovanni Abbruzzese, Emilia Bellone, Paola Mandich
Background: Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can mimic other movement disorders such as Huntington disease (HD), dystonia and parkinsonism. SCA17 is caused by an expansion of CAG/CAA repeat in the Tata binding protein ( TBP ) gene. Normal alleles contain 25 to 40 CAG/CAA repeats, alleles with 50 or greater CAG/CAA repeats are pathological with full penetrance. Alleles with 43 to 49 CAG/CAA repeats were also reported and their penetrance is estimated between 50 and 80%...
2018: Cerebellum & Ataxias
Haroon Latif Khan, Shahzad Bhatti, Sana Abbas, Yousaf Latif Khan, Rosa Maria Marquez Gonzalez, Muhammad Aslamkhan, Gerardo Rodriguez Gonzalez, Hikmet Hakan Aydin
Background: Despite its worldwide high occurrence, the obscurity regarding the description, epidemiology and management of premature ejaculation remains provocative. It is well established that male premature ejaculatory dysfunction is an increasing problem due to spontaneous ejaculation across a variety of general and clinical subjects. The main goal of this study was to determine the relationships between trinucleotide repeats of the androgen receptor (AR), sex steroids, and pituitary hormones with sexual function in men with type 2 diabetes mellitus (DM) and reported with acquired premature ejaculation (PE)...
2018: Basic and Clinical Andrology
Hiroki Maruyama, Atsumi Taguchi, Yuji Nishikawa, Chu Guili, Mariko Mikame, Masaaki Nameta, Yutaka Yamaguchi, Mitsuhiro Ueno, Naofumi Imai, Yumi Ito, Takahiko Nakagawa, Ichiei Narita, Satoshi Ishii
A main feature of Fabry disease is nephropathy, with polyuria an early manifestation; however, the mechanism that underlies polyuria and affected tubules is unknown. To increase globotriaosylceramide (Gb3) levels, we previously crossbred asymptomatic Glatm mice with transgenic mice that expressed human Gb3 synthase (A4GALT) and generated the Glatm Tg(CAG-A4GALT) symptomatic Fabry model mice. Additional analyses revealed that these mice exhibit polyuria and renal dysfunction without remarkable glomerular damage...
March 19, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
Alhassane Diallo, Heike Jacobi, Arron Cook, Robyn Labrum, Alexandra Durr, Alexis Brice, Perrine Charles, Cecilia Marelli, Caterina Mariotti, Lorenzo Nanetti, Marta Panzeri, Maria Rakowicz, Anna Sobanska, Anna Sulek, Tanja Schmitz-Hübsch, Ludger Schöls, Holger Hengel, Bela Melegh, Alessandro Filla, Antonella Antenora, Jon Infante, José Berciano, Bart P van de Warrenburg, Dagmar Timmann, Sylvia Boesch, Massimo Pandolfo, Jörg B Schulz, Peter Bauer, Paola Giunti, Jun-Suk Kang, Thomas Klockgether, Sophie Tezenas du Montcel
BACKGROUND: Spinocerebellar ataxias are dominantly inherited progressive ataxia disorders that can lead to premature death. We aimed to study the overall survival of patients with the most common spinocerebellar ataxias (SCA1, SCA2, SCA3, and SCA6) and to identify the strongest contributing predictors that affect survival. METHODS: In this longitudinal cohort study (EUROSCA), we enrolled men and women, aged 18 years or older, from 17 ataxia referral centres in ten European countries; participants had positive genetic test results for SCA1, SCA2, SCA3, or SCA6 and progressive, otherwise unexplained, ataxias...
April 2018: Lancet Neurology
Bihong Xu, Chunyu Huang, Xianzi Yang, Xiangzhao Li, Liang Li, Yanqing Ding
Human epidermal growth factor receptor 2 (HER-2) has an important clinical role in various cancers. However, the prognostic impact of HER-2 in gastric cancer (GC) is controversial. RAB1A is an important small molecule in the mechanistic target of rapamycin signalling pathway, which is one of the downstream signalling pathways of the epidermal growth factor receptor family. In recent years, the aberrant expression of RAB1A has been reported in a number of tumours, but its regulation in GC has not been extensively examined...
April 2018: Oncology Letters
Wen Chong Xin, Xiao Liang Shao, Yue Tao Wang, Jian Feng Wang, Xiao Song Wang, Ling Yang, Wei Yang, Fei Fei Zhang
OBJECTIVE: To evaluate whether computed tomography attention correction (CTAC) has incremental diagnostic value for single photon emission tomography (SPET) myocardial perfusion imaging (MPI) for the detection of coronary artery disease (CAD) in Chinese patients. SUBJECTS AND METHODS: This retrospective study consisted of 181 suspected CAD patients who underwent one-stop SPET examination by MPI combined with a CT scan. Two observers independently evaluated non-attenuation correction (NAC) and CTAC MPI images, and coronary angiography (CAG) results were used as reference standards...
March 20, 2018: Hellenic Journal of Nuclear Medicine
Tyler F Vadeboncoeur, Vatsal Chikani, Chengcheng Hu, Danial W Spaite, Bentley J Bobrow
AIM: The aim of our study was to assess the impact of coronary angiography (CAG) after out-of-hospital cardiac arrest (OHCA) without ST-elevation (STE). METHODS: Prospective observational study of adult (age ≥ 18) OHCA of presumed cardiac etiology from 1/01/2010-12/31/2014 admitted to one of 40 recognized cardiac receiving centers within a statewide resuscitation network. RESULTS: Among 11,976 cases, 1,881 remained for analysis after exclusions...
March 13, 2018: Resuscitation
Yuki Yoshimura, Miyuki Ida-Tanaka, Tsuyoshi Hiramaki, Motohito Goto, Tsutomu Kamisako, Tomoo Eto, Mika Yagoto, Kenji Kawai, Takeshi Takahashi, Manabu Nakayama, Mamoru Ito
DNA site-specific recombination by Cre/loxP is a powerful tool for gene manipulation in experimental animals. VCre/VloxP and SCre/SloxP are novel site-specific recombination systems, consisting of a recombinase and its specific recognition sequences, which function in a manner similar to Cre/loxP. Previous reports using Escherichia coli and Oryzias latipes demonstrated the existence of stringent specificity between each recombinase and its target sites; VCre/VloxP, SCre/SloxP, and Cre/loxP have no cross-reactivity with each other...
March 15, 2018: Transgenic Research
Peng Wang, San-Pin Wu, Kelsey E Brooks, Andrew M Kelleher, Jessica Milano-Foster, Francesco J DeMayo, Thomas E Spencer
Forkhead box A2 (FOXA2) is a pioneer transcription factor involved in organ development, function and cancer. In the uterus, FOXA2 is essential for pregnancy and expressed specifically in the glands of the endometrium loss of FOXA2 function occurs during development of endometrial cancer in humans. The present study describes the development of a mouse model for conditional expression of mouse FOXA2. Using a system consisting of a minigene located at the Rosa26 locus, a CAG-S-mFOXA2 allele was generated in embryonic stem cells and subsequently in mice; before activation, the minigene is silent due to a floxed stop cassette inserted between the promoter and the transgene...
March 13, 2018: Endocrinology
Jun Shiraishi, Nariko Koshi, Yuki Matsubara, Tetsuro Nishimura, Akira Shikuma, Keisuke Shoji, Daisuke Ito, Masayoshi Kimura, Eigo Kishita, Yusuke Nakagawa, Masayuki Hyogo, Takahisa Sawada
BACKGROUND: Experiences of rotational atherectomy (RA) followed by drug-coated balloon (DCB) dilation alone (RA/DCB) for de novo coronary artery lesion have been limited. CASE SERIES: Case 1 (65 year-old male) with silent myocardial ischemia and hemodialysis had old anterior myocardial infarction and intact LM/LCx, and underwent RA/DCB against a diffuse calcified lesion in the proximal LAD and a tandem lesion in the proximal RCA. Case 2 (88 year-old female) with post-infarction unstable angina had severe thrombocytopenia and anemia due to myelodysplastic syndrome (platelet 6000/μL, hemoglobin 8...
February 12, 2018: Cardiovascular Revascularization Medicine: Including Molecular Interventions
Gulsum Uysal, Hatice Akkaya, Fulya Cagli, Sadan Tutus, Ahter T Tayyar
Pain relief of two different oral contraceptive pills (OCPs) in severe primary dysmenorrhoea (PD) was compared. Sixty-six nulliparous patients with severe PD requiring contraception were evaluated. Group 1 comprised 33 healthy controls. Patients with severe PD were divided into two groups. Patients in Group 2 were administered oestradiol valerate/dienogest and patients in Group 3 were administered ethinylestradiol/drospirenone. Doppler indices of both uterine arteries (left and right) including systolic/diastolicrates (S/D), pulsatility index (PI) and resistance index (RI) were measured, and a visual analogue scale (VAS) was applied to patients before treatment...
March 14, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Magdalena Dabrowska, Wojciech Juzwa, Wlodzimierz J Krzyzosiak, Marta Olejniczak
Huntington's disease (HD) is a progressive autosomal dominant neurodegenerative disorder caused by the expansion of CAG repeats in the first exon of the huntingtin gene ( HTT ). The accumulation of polyglutamine-rich huntingtin proteins affects various cellular functions and causes selective degeneration of neurons in the striatum. Therapeutic strategies used to date to silence the expression of mutant HTT include antisense oligonucleotides, RNA interference-based approaches and, recently, genome editing with the CRISPR/Cas9 system...
2018: Frontiers in Neuroscience
Ling-Yun Liu, Yang Liu, Mei-Yan Wu, Yan-Yan Sun, Fu-Zhe Ma
Background: Results of studies on the efficacy of atorvastatin pretreatment on reducing the prevalence of contrast-induced acute kidney injury (CIAKI) in patients undergoing coronary angiography (CAG) or percutaneous coronary intervention (PCI) have been controversial. Objective: We undertook a meta-analysis to evaluate the efficacy of atorvastatin on contrast-induced nephropathy (CIN) after CAG or PCI. Materials and methods: We undertook a systematic search of electronic databases (PubMed, Embase, and the Cochrane Library) up to June 2017...
2018: Drug Design, Development and Therapy
Eun Jeong Song, Mi Young Lee
PURPOSE: The purpose of this study was to examine the effects of aromatherapy on stress responses, autonomic nervous system (ANS) activity, and blood pressure in patients hospitalized to receive coronary angiography (CAG). METHODS: A non-equivalent control group with a pretest-posttest design was used. The subjects were patients admitted to the day angiography room to receive CAG at E University Hospital (34 in the experimental group and 30 in the control group)...
February 2018: Journal of Korean Academy of Nursing
Yanfen Zhang, Dantong Wu, Xuemei Zhang, Ning Ma, Yanhong Liu
MicroRNAs are involved in many biological processes. Studying microRNA function requires genetic strategies generating loss-of-function phenotypes, especially in vivo. However, few microRNA loss-of-function models have been reported in mice. Here, we generated several transgenic mouse lines to stably and specifically knockdown miR-483-5p by overexpressing microRNA sponges from CAG promoters. The different levels of expression of microRNA sponges resulted in different levels of mature miR-483-5p, which upregulated serum ALT/AST in these transgenic lines...
January 2018: Biochemistry. Biokhimii︠a︡
Zachary Cahn, Lindsay Eckhaus
This paper investigates the fate of the Capillary Aerosol Generator (CAG), a nicotine aerosol device resembling modern e-cigarettes, developed by Philip Morris (PM) in 1994. A debate has emerged as to why this product never made it to market. In Donovan et al. v. Philip Morris USA, Inc., the sides presented opposing views in their arguments. To explore the reasons for CAG abandonment, we searched the Truth Tobacco Industry Documents database for key terms including 'Capillary Aerosol,' 'Project LEAP' (the project under which the CAG was housed), and 'Tony Howell' (CAG inventor)...
March 12, 2018: Journal of Public Health Policy
Claes Ohlsson, Petra Henning, Karin H Nilsson, Jianyao Wu, Karin L Gustafsson, Klara Sjögren, Anna E Törnqvist, Antti Koskela, Fu-Ping Zhang, Marie K Lagerquist, Matti Poutanen, Juha Tuukkanen, Ulf H Lerner, Sofia Movérare-Skrtic
Substantial progress has been made in the therapeutic reduction of vertebral fracture risk in patients with osteoporosis, but non-vertebral fracture risk has been improved only marginally. Human genetic studies demonstrate that the WNT16 locus is a major determinant of cortical bone thickness and non-vertebral fracture risk and mouse models with life-long Wnt16 inactivation revealed that WNT16 is a key regulator of cortical thickness. These studies, however, could not exclude that the effect of Wnt16 inactivation on cortical thickness might be caused by early developmental and/or growth effects...
March 12, 2018: Journal of Endocrinology
Anasheh Halabi, Kayla T B Fuselier, Ed Grabczyk
DNA repeat expansion underlies dozens of progressive neurodegenerative disorders. While the mechanisms driving repeat expansion are not fully understood, increasing evidence suggests a central role for DNA mismatch repair. The mismatch repair recognition complex MutSβ (MSH2-MSH3) that binds mismatched bases and/or insertion/deletion loops has previously been implicated in GAA•TTC, CAG•CTG and CGG•CCG repeat expansion, suggesting a shared mechanism. MutSβ has been studied in a number of models, but the contribution of subsequent steps mediated by the MutL endonuclease in this pathway is less clear...
February 26, 2018: Nucleic Acids Research
Ling Sun, Xuejun Zhou, Jianguang Jiang, Xuan Zang, Xin Chen, Haiyan Li, Haitao Cao, Qingjie Wang
BACKGROUND: Growth differentiation factor-15 (GDF-15) is an emerging biomarker for risk stratification in cardiovascular disease. Contrast-induced acute kidney injury (AKI) is an important complication in patients undergoing coronary angiography (CAG) or percutaneous coronary intervention (PCI). In this retrospectively observational study, we aimed to determine the role of GDF-15 and the risk of AKI in acute myocardial infarction (AMI) patients. METHODS: The medical records of 1195 patients with AMI were reviewed...
2018: PloS One
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