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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
Claudia Schadow, Hanna Schmidt, Alexander Schorcht, Frank Meyer
MEDICAL HISTORY AND CLINICAL FINDINGS:  A 43-year old male patient was admitted because of diffuse abdominal discomfort for two days, which had started in the upper abdomen; medical history, no previous surgical interventions at the abdomen. INVESTIGATIONS:  Gastroscopy and abdominal ultrasound revealed only a mild gastritis. Laboratory parameters: showed only a slight leucocytosis (10 610/µL). On the 1st day of the hospital stay, the patient developed a worsening of the abdominal symptoms with distended abdomen, sounding bowel movements and recurrent vomiting, which were interpreted as acute abdomen by the surgeon on call leading to the indication of a surgical intervention...
March 2018: Deutsche Medizinische Wochenschrift
Christina Schumann, Michael Faust
BACKGROUND:  Diabetic ketoacidosis and the hyperosmolar hyperglycemic state are the most serious diabetic emergencies. Before the discovery of insulin in 1921 by Banting and Best the diagnosis of type 1 diabetes was fatal ending in diabetic ketoacidosis equivalent to a torturous death. Today, mortality from diabetic ketoacidosis is low at approximately 2 %. But each death from these two acute metabolic complications of diabetes is potentially avoidable by improved patient and healthcare professional education...
March 2018: Deutsche Medizinische Wochenschrift
Ni Zhu, Bing Yi, Zhifu Guo, Guanxin Zhang, Shengdong Huang, Yongwen Qin, Xianxian Zhao, Jianxin Sun
BACKGROUND/AIMS: Pim-1 is a serine/threonine kinase that is highly expressed in the heart, and exerts potent cardiac protective effects through enhancing survival, proliferation, and regeneration of cardiomyocytes. Its myocardial specific substrates, however, remain unknown. In the present study, we aim to investigate whether Pim-1 modulates myofilament activity through phosphorylation of cardiac troponin I (cTnI), a key component in regulating myofilament function in the heart. METHODS: Coimmunoprecipitation and immunofluorescent assays were employed to investigate the interaction of Pim-1 with cTnI in cardiomyocytes...
March 10, 2018: Cellular Physiology and Biochemistry
Ceren D Durmaz, Gareth Evans, Miriam J Smith, Pelin Ertop, Bengü N Akay, Timur Tuncalı
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery for odontogenic keratocyst...
March 16, 2018: Cytogenetic and Genome Research
Pingping Jia, Weihang Chai
Genome instability gives rise to cancer. MLH1, commonly known for its important role in mismatch repair (MMR), DNA damage signaling and double-strand break (DSB) repair, safeguards genome stability. Recently we have reported a novel role of MLH1 in preventing aberrant formation of interstitial telomeric sequences (ITSs) at intra-chromosomal regions. Deficiency in MLH1, in particular its N-terminus, leads to an increase of ITSs. Here, we identify that the ATPase activity in the MLH1 N-terminal domain is important for suppressing the formation of ITSs...
March 7, 2018: DNA Repair
Rafael Sierra-Guzmán, Fernando Jiménez, Javier Abián-Vicén
BACKGROUND: Previous studies have reported the factors contributing to chronic ankle instability, which could lead to more effective treatments. However, factors such as the reflex response and ankle muscle strength have not been taken into account in previous investigations. METHODS: Fifty recreational athletes with chronic ankle instability and 55 healthy controls were recruited. Peroneal reaction time in response to sudden inversion, isokinetic evertor muscle strength and dynamic balance with the Star Excursion Balance Test and the Biodex Stability System were measured...
March 6, 2018: Clinical Biomechanics
Laura J Mosher, Sean C Godar, Marc Morissette, Kenneth M McFarlin, Simona Scheggi, Carla Gambarana, Stephen C Fowler, Thérèse Di Paolo, Marco Bortolato
The enzyme steroid 5α-reductase 2 (5αR2) catalyzes the conversion of testosterone into the potent androgen 5α-dihydrotestosterone. Previous investigations showed that 5αR2 is expressed in key brain areas for emotional and socio-affective reactivity, yet the role of this enzyme in behavioral regulation remains mostly unknown. Here, we profiled the behavioral characteristics of 5αR2 heterozygous (HZ) and knockout (KO) mice, as compared with their wild-type (WT) littermates. While male 5αR2 KO mice displayed no overt alterations in motoric, sensory, information-processing and anxiety-related behaviors, they exhibited deficits in neurobehavioral correlates of dominance (including aggression against intruders, mating, and tube dominance) as well as novelty-seeking and risk-taking responses...
February 16, 2018: Psychoneuroendocrinology
Mathias Reisbeck, Lukas Richter, Michael Johannes Helou, Stephan Arlinghaus, Birgit Anton, Ignas van Dommelen, Mario Nitzsche, Michael Baßler, Barbara Kappes, Oliver Friedrich, Oliver Hayden
Time-of-flight (TOF) magnetic sensing of rolling immunomagnetically-labeled cells offers great potential for single cell function analysis at the bedside in even optically opaque media, such as whole blood. However, due to the spatial resolution of the sensor and the low flow rate regime required to observe the behavior of rolling cells, the concentration range of such a workflow is limited. Potential clinical applications, such as testing of leukocyte function, require a cytometer which can cover a cell concentration range of several orders of magnitude...
March 12, 2018: Biosensors & Bioelectronics
Yi-Lei Fan, Xiao-Hong Jin, Zhong-Ping Huang, Hai-Feng Yu, Zhi-Gang Zeng, Tao Gao, Lian-Shun Feng
Tuberculosis still remains one of the most common, communicable, and leading deadliest diseases known to mankind throughout the world. Drug-resistance in Mycobacterium tuberculosis which threatens to worsen the global tuberculosis epidemic has caused great concern in recent years. To overcome the resistance, the development of new drugs with novel mechanisms of actions is of great importance. Imidazole-containing derivatives endow with various biological properties, and some of them demonstrated excellent anti-tubercular activity...
March 7, 2018: European Journal of Medicinal Chemistry
Irene Fondón, Auxiliadora Sarmiento, Ana Isabel García, María Silvestre, Catarina Eloy, António Polónia, Paulo Aguiar
Breast cancer is the second leading cause of cancer death among women. Its early diagnosis is extremely important to prevent avoidable deaths. However, malignancy assessment of tissue biopsies is complex and dependent on observer subjectivity. Moreover, hematoxylin and eosin (H&E)-stained histological images exhibit a highly variable appearance, even within the same malignancy level. In this paper, we propose a computer-aided diagnosis (CAD) tool for automated malignancy assessment of breast tissue samples based on the processing of histological images...
March 8, 2018: Computers in Biology and Medicine
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
Shiri Lev-Ari
We learn language from our social environment, but the more sources we have, the less informative each source is, and therefore, the less weight we ascribe its input. According to this principle, people with larger social networks should give less weight to new incoming information, and should therefore be less susceptible to the influence of new speakers. This paper tests this prediction, and shows that speakers with smaller social networks indeed have more malleable linguistic representations. In particular, they are more likely to adjust their lexical boundary following exposure to a new speaker...
March 12, 2018: Cognition
Ana Carolina Lima Cavaletti, Célia Pereira Caldas, Kenio Costa de Lima
OBJECTIVES: To identify the diseases that lead older persons to hospitalizations in the public health system in the state of Rio de Janeiro and, through a study of spatial distribution among hospitalization rates of the municipal districts, discuss the social contexts involved in the hospitalization of the elderly. METHODS: An ecological cross-sectional study using secondary data from the Brazilian hospital information system from the period 2009 to 2015 was performed...
March 12, 2018: Value in Health Regional Issues
Haibin Zhou, Haibo Meng, Lixin Zhao, Yujun Shen, Yueqing Hou, Hongsheng Cheng, Liqiu Song
In this study, two different biochars (sawdust charcoal (SDC) and wheat straw charcoal (WSC)) and biological humic acid (BHA) were used with different addition rates in pig manure composting to illustrate the effect on heavy metals passivation. And the composts were applied to rape (Brassica campestris L.) growth to illustrate the stability of the passivation. Results showed the concentration of Cu, Cd, and Pb increased after composting, whereas the passivation rates of Cu, Pb, and Cd reached a maximum of 94...
February 23, 2018: Bioresource Technology
Alexander Gluschko, Marc Herb, Katja Wiegmann, Oleg Krut, Wolfram F Neiss, Olaf Utermöhlen, Martin Krönke, Michael Schramm
The intracellular pathogen Listeria monocytogenes (L.m.) is targeted by the autophagic machinery, but the molecular mechanisms involved and consequences for anti-listerial immunity remain enigmatic. Here, we demonstrate that L.m. infection of macrophages in vivo exclusively evokes LC3-associated phagocytosis (LAP), but not canonical autophagy, and that targeting of L.m. by LAP is required for anti-listerial immunity. The pathway leading to LAP induction in response to L.m. infection emanates from the β2 integrin Mac-1 (CR3, integrin αM β2 ), a receptor recognizing diverse microbial ligands...
March 14, 2018: Cell Host & Microbe
Vitor Cabral, Karina B Xavier
Bacterial sensing is important for perceiving environmental cues and activating responses. In this issue of Cell Host & Microbe, Hertzog et al. (2018) show that group A Streptococcus can couple the ability to respond to host cues with autoinduction of a quorum sensing system, leading to killing of bacterial competitors.
March 14, 2018: Cell Host & Microbe
Andrew J Olsen, Priya Katyal, Jennifer S Haghpanah, Matthew B Kubilius, Ruipeng Li, Nicole L Schnabel, Sean C O'Neill, Yao Wang, Min Dai, Navjot Singh, Raymond S Tu, Jin Kim Montclare
Recombinant methods have been used to engineer artificial protein triblock polymers comprised of two different self-assembling domains (SADs) bearing one elastin (E) flanked by two cartilage oligomeric matrix protein coiled-coil (C) domains to generate CEC. To understand how the two C domains improve small molecule recognition and the mechanical integrity of CEC, we have constructed CL44AECL44A, which bears an impaired CL44A domain that is unstructured as a negative control. The CEC triblock polymer demonstrates increased small molecule binding and ideal elastic behavior for hydrogel formation...
March 15, 2018: Biomacromolecules
Narjeet S Khurmi, Yu-Hui Chang, D Eric Steidley, Andrew L Singer, Winston R Hewitt, Kunam S Reddy, Adyr A Moss, Amit K Mathur
BACKGROUND: Cardiovascular disease (CVD) is a leading cause of post-liver transplant death, and variable care patterns may affect outcomes. We aimed to describe epidemiology and outcomes of inpatient CVD care across U.S. hospitals. METHODS: Using a merged dataset from the 2002-2011 Nationwide Inpatient Sample and the American Hospital Association Annual Survey, we evaluated liver transplant patients admitted primarily with myocardial infarction (MI), stroke (CVA), congestive heart failure (CHF), dysrhythmias, cardiac arrest (CA), or malignant hypertension...
March 15, 2018: Liver Transplantation
Akihiko Taguchi, Yasuharu Ohta, Yukio Tanizawa
Type 2 diabetes mellitus is characterized by the loss of ß-cell function and mass, resulting from interactions between genetic predisposition and various environmental factors1 . One environmental condition identified as a risk factor for type 2 diabetes mellitus is circadian rhythm disruption, which is induced by shift work or sleep disturbance. However, the mechanism whereby circadian disruption leads to impaired glucose metabolism is not well understood. This article is protected by copyright. All rights reserved...
March 15, 2018: Journal of Diabetes Investigation
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