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Christoph Niemietz, Christoph Röcken, Matthias Schilling, Jörg Stypman, Constantin E Uhlig, Hartmut H-J Schmidt
Transthyretin-related Familial Amyloid Polyneuropathy (ATTR Amyloidosis, former FAP, here called TTR-FAP) is a rare, progressive autosomal dominant inherited amyloid disease ending fatal within 5 - 15 years after final diagnosis. TTR-FAP is caused by mutations of transthyretin (TTR), which forms amyloid fibrils affecting peripheral and autonomic nerves, the heart and other organs. Due to the phenotypic heterogeneity and partly not specific enough clinical symptoms, diagnosis of TTR-FAP can be complicated...
March 2018: Deutsche Medizinische Wochenschrift
Viola Andresen, Peter Layer
The irritable bowel syndrome (IBS) counts among the most prevalent chronic diseases. Clinically, the IBS is characterized by abdominal symptoms combined with irregular defecation, which are not explained by routine diagnostic tests. IBS is often triggered by enteric bacterial infections, and its pathogenesis involves disturbed enteric, gut-brain, and cerebral mechanisms. Diagnostic work-up must aim to establish a positive IBS diagnosis, and to exclude serious underlying differential diagnoses (such as neoplasia, inflammatory bowel disease, celiac disease and others)...
March 2018: Deutsche Medizinische Wochenschrift
Gerhard Hintze
No abstract text is available yet for this article.
March 2018: Deutsche Medizinische Wochenschrift
Masaru Hiki, Hiroshi Iwata, Yuko Kawaguchi, Kazuhisa Takamura, Makoto Hiki, Tetsuro Miyazaki, Shinichiro Fujimoto, Atsushi Amano, Hiroyuki Daida
A giant right coronary artery aneurysm (60 × 70 mm in size) was incidentally found by chest X-ray as an abnormal right atrial enlargement, and it needed surgical resection. Although the majority of giant coronary artery aneurysms present with symptoms of coronary ischemia, this case presented without any specific symptom. This study indicates that when chest X-ray shows abnormal atrial enlargement, a differential diagnosis of giant coronary artery aneurysm may need to be considered.
March 15, 2018: Cardiology
Amanda A Soares, Jonathan P Castro, Pedro Balieiro, Sidnei Dornelles, Tiago M Degrandi, Ives J Sbalqueiro, Roberto Ferreira Artoni, Iris Hass
B chromosomes are supernumerary chromosomes found in the karyotypes of approximately 15% of all eukaryotic species. They present parasitic behavior and do not follow the standard Mendelian pattern of inheritance, resulting in an imbalance in gametogenesis. The evolutionary dynamics of B chromosomes is still unknown for many species, but studies indicate that the accumulation of repetitive sequences plays an important role in the differentiation of these elements. We analyzed morphology, frequency, and possible homologies amongst different B chromosomes found in an isolated Akodon montensis population in southern Brazil...
March 16, 2018: Cytogenetic and Genome Research
Abhinandan Mani Tripathi, Abhishek Niranjan, Sribash Roy
Development of flower color in plants is a complex process. Among others, it is an important trait for ornamental flowering plants. Canna is a flowering ornamental plant of family Cannaceae. To understand the molecular mechanism of flower color development in Canna, RNA sequencing from flower tissues of two contrasting flower color cultivars, Red President (RP) and Tropical Sunrise (TS) was performed. More than 27.0 million and 19.0 million clean reads were obtained from RP and TS, respectively. The combined clean reads were assembled into 147,295 unigenes...
March 7, 2018: Plant Physiology and Biochemistry: PPB
Wei Tse Li, Hao Zheng, Vincent Nguyen, Jessica Wang-Rodriguez, Weg M Ongkeko
Though bladder urothelial carcinoma is the most common form of bladder cancer, advances in its diagnosis and treatment have been modest in the past few decades. To evaluate miRNAs as putative disease markers for bladder urothelial carcinoma, this study develops a process to identify dysregulated miRNAs in cancer patients and potentially stratify patients based on the association of their microRNAome phenotype to genomic alterations. Using RNA sequencing data for 409 patients from the Cancer Genome Atlas, we examined miRNA differential expression between cancer and normal tissues and associated differentially expressed miRNAs with patient survival and clinical variables...
March 12, 2018: Neoplasia: An International Journal for Oncology Research
Toby Wise, Matthew J Taylor, Andres Herane-Vives, Antonella Marino Gammazza, Francesco Cappello, David J Lythgoe, Steve Cr Williams, Allan H Young, Anthony J Cleare, Danilo Arnone
BACKGROUND: There is uncertainty as to whether alterations in glutamatergic function in affective disorders differ between unipolar and bipolar disorders and between depressive and euthymic states. Additionally, there are currently no available blood-based markers of central glutamatergic function to support clinical diagnosis and aid brain based investigations. METHODS: In this study, we measured levels of glutamate in the dorsal anterior cingulate cortex in-vivo using 1H-Magnetic Resonance Spectroscopy in medication free unipolar and bipolar patients (n = 29, 20 unipolar and 9 bipolar) experiencing a major depressive episode, in comparison with a group of matched healthy controls (n = 20)...
February 27, 2018: Journal of Affective Disorders
Michael J Zvolensky, Andrew H Rogers, Kara Manning, Julianna B D Hogan, Daniel J Paulus, Julia D Buckner, Nubia A Mayorga, Gerald Hallford, Norman B Schmidt
Cannabis is among the most widely used psychoactive substances in the United States, and rates of cannabis use and cannabis-related problems are increasing. Anxiety sensitivity, or the fear of aversive interoceptive sensations, may be relevant to better understanding cannabis use problems and other significant cannabis use processes (e.g., beliefs about quitting). Previous research has primarily focused on the global anxiety sensitivity construct; however, anxiety sensitivity lower-order facets (Cognitive Concerns, Physical Concerns, and Social Concerns) tend to be differentially related to substance use processes in non-cannabis specific studies...
March 5, 2018: Psychiatry Research
Ryu Miura, Atsuko Araki, Chihiro Miyashita, Sumitaka Kobayashi, Sachiko Kobayashi, Shu-Li Wang, Chung-Hsing Chen, Kunio Miyake, Mayumi Ishizuka, Yusuke Iwasaki, Yoichi M Ito, Takeo Kubota, Reiko Kishi
BACKGROUND: Prenatal exposure to perfluoroalkyl substances (PFASs) influences fetal development and later in life. OBJECTIVE: To investigate cord blood DNA methylation changes associated with prenatal exposure to PFASs. METHODS: We assessed DNA methylation in cord blood samples from 190 mother-child pairs from the Sapporo cohort of the Hokkaido Study (discovery cohort) and from 37 mother-child pairs from the Taiwan Maternal and Infant Cohort Study (replication cohort) using the Illumina HumanMethylation 450 BeadChip...
March 12, 2018: Environment International
Claudio Gariazzo, Massimo Stafoggia, Silvia Bruzzone, Armando Pelliccioni, Francesco Forastiere
Use of mobile phones while driving is known to cause crashes with possible fatalities. Different habits of mobile phone use might be distracting forces and display differential impacts on accident risk; the assessment of the relative importance is relevant to implement prevention, mitigation, and control measures. This study aimed to assess the relationship between the use of mobile phones at population level and road crash fatalities in large urban areas. Data on road crashes with fatalities were collected from seven Italian metropolitan areas and matched in time and space with high resolution mobile phone traffic volume data about calls, texts, Internet connections and upload/download data...
March 12, 2018: Accident; Analysis and Prevention
Markus Basan
Elucidating strategies of resource allocation and metabolism is crucial for a better understanding of microbial phenotypes. In particular, uncovering the governing principles underlying these processes would be a crucial step for achieving a central aim of systems microbiology, which is to quantitatively predict phenotypes of microbial cells or entire populations in diverse conditions. Here, some of the key concepts for understanding cellular resource allocation and metabolism that have been suggested over the past years are reviewed...
March 12, 2018: Current Opinion in Microbiology
Alejandro Amor-Coarasa, James Kelly, Shashikanth Ponnala, Yogindra Vedvyas, Anastasia Nikolopoulou, Clarence Williams, Moonsoo M Jin, J David Warren, John W Babich
INTRODUCTION: CXCR4 specific [18 F]-labeled positron emission tomography (PET) imaging agents are needed which would enable general distribution of the radiotracer for clinical investigation. We sought to synthesize, radiolabel and evaluate [18 F]RPS-544, a novel non-peptide CXCR4 antagonist as a CXCR4 specific probe. We compared [18 F]RPS-544 with the previously published [18 F]-3 ([18 F]RPS-510 in this paper) in a bi-lateral tumor model of differential CXCR4 expression for its ability to selectively target CXCR4 expression...
January 31, 2018: Nuclear Medicine and Biology
Rashmi Panda, N B Puhan, Aparna Rao, Debananda Padhy, Ganapati Panda
Retinal nerve fiber layer defect (RNFLD) provides an early objective evidence of structural changes in glaucoma. RNFLD detection is currently carried out using imaging modalities like OCT and GDx which are expensive for routine practice. In this regard, we propose a novel automatic method for RNFLD detection and angular width quantification using cost effective redfree fundus images to be practically useful for computer-assisted glaucoma risk assessment. After blood vessel inpainting and CLAHE based contrast enhancement, the initial boundary pixels are identified by local minima analysis of the 1-D intensity profiles on concentric circles...
March 6, 2018: Computerized Medical Imaging and Graphics: the Official Journal of the Computerized Medical Imaging Society
John K Fallon, Nicole Houvig, Catherine L Booth-Genthe, Philip C Smith
Information is needed on the expression of transporters in lung to inform drug development and therapeutic decisions. Much of the information currently available is from semiquantitative gene expression or immunometric densitometry studies reported in the literature. NanoLC-MS/MS (MRM mode) isotope dilution targeted quantitative proteomics was used here to quantify twelve selected transporters in fresh human lung membrane fraction samples and in the membrane fraction of selected immortalized human lung epithelial cell line samples...
February 22, 2018: Journal of Pharmaceutical and Biomedical Analysis
Yasmine Baktash, Anisha Madhav, Kelly E Coller, Glenn Randall
Hepatitis C virus (HCV) enters hepatocytes via various entry factors, including scavenger receptor BI (SR-B1), cluster of differentiation 81 (CD81), epidermal growth factor receptor (EGFR), claudin-1 (CLDN1), and occludin (OCLN). As CLDN1 and OCLN are not readily accessible due to their tight junctional localization, HCV likely accesses them by either disrupting cellular polarity or migrating to the tight junction. In this study, we image HCV entry into a three-dimensional polarized hepatoma system and reveal that the virus sequentially engages these entry factors through actin-dependent mechanisms...
March 14, 2018: Cell Host & Microbe
Suhyung Cho, Donghui Choe, Eunju Lee, Sun Chang Kim, Bernhard Ø Palsson, Byung-Kwan Cho
Along with functional advances in the use of CRISPR/Cas9 for genome editing, endonuclease-deficient Cas9 (dCas9) has provided a versatile molecular tool for exploring gene functions. In principle, differences in cell phenotypes that result from the RNA-guided modulation of transcription levels by dCas9 are critical for inferring with gene function; however, the effect of intracellular dCas9 expression on bacterial morphology has not been systematically elucidated. Here, we observed unexpected morphological changes in Escherichia coli mediated by dCas9, which were then characterized using RNA sequencing (RNA-Seq) and chromatin immunoprecipitation sequencing (ChIP-Seq)...
March 15, 2018: ACS Synthetic Biology
Jacobus H Visser, Nigel C Bennett, Bettine Jansen van Vuuren
The subterranean niche harbours animals with extreme adaptations. These adaptations decrease the vagility of taxa and, along with other behavioural adaptations, often result in isolated populations characterized by small effective population sizes, high inbreeding, population bottlenecks, genetic drift and consequently, high spatial genetic structure. Although information is available for some species, estimates of genetic diversity and whether this variation is spatially structured, is lacking for the Cape mole-rat (Georychus capensis)...
2018: PloS One
Frank Niemeyer, Lutz Claes, Anita Ignatius, Nicholaus Meyers, Ulrich Simon
Distraction osteogenesis is an effective method for generating large amounts of bone in situ for treating pathologies such as large bone defects or skeletal malformations, for instance leg-length discrepancies. While an optimized distraction procedure might have the potential to reduce the rate of complications significantly, our knowledge of the underlying mechanobiological processes is still insufficient for systematic optimization of treatment parameters such as distraction rate or fixation stiffness. We present a novel numerical model of lateral distraction osteogenesis, based on a mechanically well-controlled in vivo experiment...
2018: PloS One
ChengLin Zhong, SiChen Li, JingJing Li, FengPeng Li, MingXia Ran, LingYun Qiu, DiYan Li, Qing Zhu, Yan Wang, HuaDong Yin, Gang Shu, Chaowu Yang, XiaoLing Zhao
Peroxisome proliferator activated receptor-alpha (PPARα) and Egl nine homolog 3 (EGLN3) play critical roles in facilitating the adaptation to a hypoxic environment. However, the relationship between EGLN3 and PPARα variants and hypoxic adaptation remains poorly understood in Tibetan chickens. To better understand the effects of genetic variation, we sequenced exons of PPARα and EGLN3 in 138 Lowland chickens (LC) from 7 breeds that were located in Emei, Miyi, Shimian, Wanyuan, Pengxian, and Muchuan in the Sichuan province, and Wenchang in the Hainan province (altitudes for these locations are below 1800 meters)...
2018: PloS One
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