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Nicole Hoppman, Kandelaria Rumilla, Emily Lauer, Hutton Kearney, Erik Thorland
PurposeSingle-nucleotide polymorphism (SNP) microarrays can easily identify whole-chromosome isodisomy but are unable to detect whole-chromosome heterodisomy. However, most cases of uniparental disomy (UPD) involve combinations of heterodisomy and isodisomy, visualized on SNP microarrays as long continuous stretches of homozygosity (LCSH). LCSH raise suspicion for, but are not diagnostic of, UPD, and reporting necessitates confirmatory testing. The goal of this study was to define optimal LCSH reporting standards...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
(no author information available yet)
In the context of the White Book of Physical and Rehabilitation Medicine (PRM) in Europe, this paper deals with the core concepts at the base of the PRM specialty. These are the essential constituents that make PRM a primary medical specialty, different from all the other medical specialties, and PRM physician the primary medical specialist among the rehabilitation professionals. The core concepts that will be discussed in this Section include: - PRM is a person/functioning oriented specialty, and this makes the specialty different from the organ/disease oriented, or treatment/age specific medical specialties...
April 2018: European Journal of Physical and Rehabilitation Medicine
Paolo Fogagnolo, Maurizio Digiuni, Giovanni Montesano, Chiara Rui, Marco Morales, Luca Rossetti
BACKGROUND: Compass (CenterVue, Padova, Italy) is a fundus automated perimeter which has been introduced in the clinical practice for glaucoma management in 2014. The aim of the article is to review Compass literature, comparing its performances against Humphrey Field Analyzer (Zeiss Humphrey Systems, Dublin, CA, USA). RESULTS: Analyses on both normal and glaucoma subjects agree on the fact that Humphrey Field Analyzer and Compass are interchangeable, as the difference of their global indices is largely inferior than test -retest variability for Humphrey Field Analyzer...
March 1, 2018: European Journal of Ophthalmology
Stephen T Keir, Vidyalakshmi Chandramohan, Carlee D Hemphill, Michael M Grandal, Maria Carlsen Melander, Mikkel W Pedersen, Ivan D Horak, Michael Kragh, Annick Desjardins, Henry S Friedman, Darell D Bigner
BACKGROUND: Sym004 is a mixture of two monoclonal antibodies (mAbs), futuximab and modotuximab, targeting non-overlapping epitopes on the epidermal growth factor receptor (EGFR). Previous studies have shown that Sym004 is more efficient at inducing internalization and degradation of EGFR than individual components, which translates into superior cancer cell inhibition. We investigated whether Sym004 induces removal of EGFRvIII and if this removal translates into tumor growth inhibition in hard-to-treat glioblastomas (GBMs) harboring the mutated, constitutively active EGFR variant III (EGFRvIII)...
March 21, 2018: Journal of Neuro-oncology
Kengo Furuichi, Miho Shimizu, Hirokazu Okada, Ichiei Narita, Takashi Wada
Diabetic kidney disease is the major cause of end-stage kidney disease in developed countries. However, the onset of kidney disorder and the progression pattern of kidney dysfunction and proteinuria greatly vary cases by cases. Therefore, risk classification with clinical data and pathological findings is important. Recent clinico-pathological study with kidney biopsy samples from diabetic patients revealed that pathological changes of diabetic nephropathy are characteristic and have special impacts on prognosis in each clinical stage...
March 21, 2018: Clinical and Experimental Nephrology
Patrik Rogalla, Madhusudan Paravasthu, Christin Farrell, Sonja Kandel
OBJECTIVES: To evaluate a contiguous helical CT protocol with two different target noise levels in chest/abdomen/pelvis CT. METHODS: 41 patients (study group) underwent a helical scan (P1) with two different target noise levels (SDs), SD = 16 for chest and SD = 13 for abdomen/pelvis. Two further protocols were planned but not executed: a single helical scan with only one SD (SD = 13) for the entire scan range (P2), and two separate helical scans overlapping over the liver and same SD settings as for P1 (P3)...
March 21, 2018: European Radiology
Do-Yang Park, Hyo Jin Chung, Sang Chul Park, Jin Won Kim, Joo-Heon Yoon, Jeung-Gweon Lee, Chang-Hoon Kim, Hyung-Ju Cho
PURPOSE: Considerable number of patients with obstructive sleep apnea (OSA) failed to respond to positive airway pressure therapy and so turned to surgical procedures. A wide variety of surgical procedures have been developed and advanced, according to obstruction and target site through nasal cavity to trachea. We introduced our overlapping lateral pharyngoplasty (OLP) technique as a surgical option for OSA and evaluated its surgical outcomes both with and without endoscope-guided coblator tongue base resection (CobTBR)...
March 21, 2018: European Archives of Oto-rhino-laryngology
Alanna Van Hooser, Todd R Williams, Daniel T Myers
Mucinous appendiceal neoplasms are uncommon, but important to recognize with imaging due to malignant potential. Peritoneal seeding and pseudomyxoma peritonei can occur with both frankly malignant as well as low-grade appendiceal neoplasms. Prospective imaging identification of potential appendiceal neoplasm is paramount to clinical/surgical management. When a mucinous appendiceal neoplasm is suspected, a right hemicolectomy with lymph node dissection is the preferred surgical management. Unfortunately, accurate preoperative diagnosis can be challenging due to a wide range of clinical presentations and overlapping imaging appearances of appendiceal neoplasms with benign entities...
March 21, 2018: Abdominal Radiology
João Cruz, Vasco Mascarenhas
Muscle injuries are one of the major problems facing elite athletes, representing a significant source of time lost from competition, with substantial consequences for teams and athletes. There are considerable pressures for a rapid return, but players who return to competition too soon have an increased risk of recurrent muscle injuries, which are associated with longer lay-offs. Imaging plays a key role in achieving the correct diagnosis, and magnetic resonance imaging (MRI) has emerged as the method of choice for skeletal muscle imaging...
March 21, 2018: Skeletal Radiology
Eva Svandova, Barbora Vesela, Abigail S Tucker, Eva Matalova
Caspases are well known proteases in the context of inflammation and apoptosis. Recently, novel roles of pro-apoptotic caspases have been reported, including findings related to the development of hard tissues. To further investigate these emerging functions of pro-apoptotic caspases, the in vivo localisation of key pro-apoptotic caspases (-3,-6,-7,-8, and -9) was assessed, concentrating on the development of two neighbouring hard tissues, cells participating in odontogenesis (represented by the first mouse molar) and intramembranous osteogenesis (mandibular/alveolar bone)...
2018: Frontiers in Physiology
Shu-Han You, Szu-Chieh Chen, Chung-Min Liao
Background: It has been found that health-seeking behavior has a certain impact on influenza infection. However, behaviors with/without risk perception on the control of influenza transmission among age groups have not been well quantified. Objectives: The purpose of this study was to assess to what extent, under scenarios of with/without control and preventive/protective behaviors, the age-specific network-driven risk perception influences influenza infection. Materials and methods: A behavior-influenza model was used to estimate the spread rate of age-specific risk perception in response to an influenza outbreak...
2018: Infection and Drug Resistance
Thuraya Noaman Maher
INTRODUCTION: Blepharitis and meibomian gland dysfunction are chronic inflammatory conditions with overlapping pathophysiology and symptomatology. Both microbial infection and seborrhea contribute to the pathophysiology and both may benefit from treatment with tea tree oil (TTO). We evaluated the therapeutic effect of eyelids scrubbing with TTO in a group of patients with lid margin disease. MATERIALS AND METHODS: Forty patients were recruited. Half of them received lid scrubbing with a TTO formula (Naviblef™) and the other half was treated by massage and cleansing...
January 2018: Oman Journal of Ophthalmology
Hongyang Quan, Qianqian Fan, Chuang Li, Yan-Ying Wang, Lin Wang
The unfolded protein response (UPR) is activated, when the folding capacity is compromised in the endoplasmic reticulum (ER). To date, most studies focused on the coding genes and microRNAs in UPR. Other non-coding RNAs affected by UPR and their roles in UPR have not been systematically studied. Long noncoding RNAs (lncRNAs) are increasingly recognized as powerful epigenetic regulators. In this study, we transcriptomically profiled the lncRNAs and mRNAs from mouse embryonic fibroblasts under ER stress, and identified many differentially expressed lncRNAs and mRNAs...
March 21, 2018: Scientific Reports
Zaneta M Thayer, Meredith A Wilson, Andrew W Kim, Adrian V Jaeggi
Prenatal exposure to maternal stress is commonly associated with variation in Hypothalamic Pituitary Adrenal (HPA)-axis functioning in offspring. However, the strength or consistency of this response has never been empirically evaluated across vertebrate species. Here we meta-analyzed 114 results from 39 studies across 14 vertebrate species using Bayesian phylogenetic mixed-effects models. We found a positive overall effect of prenatal stress on offspring glucocorticoids (d' = 0.43) though the 95% Highest Posterior Density Interval overlapped with 0 (-0...
March 21, 2018: Scientific Reports
Kayla M Valdes, Ganesh S Sundar, Ashton T Belew, Emrul Islam, Najib M El-Sayed, Yoann Le Breton, Kevin S McIver
Many bacterial pathogens coordinately regulate genes encoding important metabolic pathways during disease progression, including the phosphoenolpyruvate (PEP)-phosphotransferase system (PTS) for uptake of carbohydrates. The Gram-positive Group A Streptococcus (GAS) is a pathogen that infects multiple tissues in the human host. The virulence regulator Mga in GAS can be phosphorylated by the PTS, affecting Mga activity based on carbohydrate availability. Here, we explored the effects of glucose availability on the Mga regulon...
March 21, 2018: Scientific Reports
Dan Chen, Chao Yang, Sha Liu, Weijian Hang, Xianghong Wang, Juan Chen, Anbing Shi
Arf6/ARF-6 is a crucial regulator of the endosomal phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2) pool in endocytic recycling. To further characterize ARF-6 regulation, we performed an ARF-6 interactor screen in Caenorhabditis elegans and identified SAC-1, the homologue of the phosphoinositide phosphatase Sac1p in yeast, as a novel ARF-6 partner. In the absence of ARF-6, basolateral endosomes show a loss of SAC-1 staining in epithelial cells. Steady-state cargo distribution assays revealed that loss of SAC-1 specifically affected apical secretory delivery and basolateral recycling...
March 21, 2018: Journal of Cell Biology
Ryan A York
Although most animal behaviors are associated with some form of heritable genetic variation, we do not yet understand how genes sculpt behavior across evolution, either directly or indirectly. To address this, I here compile a dataset comprised of over 1,000 genomic loci representing a spectrum of behavioral variation across animal taxa. Comparative analyses reveal that courtship and feeding behaviors are associated with genomic regions of significantly greater effect than other traits, on average three fold greater than other behaviors...
March 21, 2018: Genetics
Thomas Roach, Wolfgang Stöggl, Theresa Baur, Ilse Kranner
Photosynthetic organisms suffering from light stress have to cope with an increased formation of reactive short-chain aldehydes. Singlet oxygen generated from highly-charged reaction centres can peroxidise the poly-unsaturated fatty acid (PUFA)-rich thylakoid membranes they are embedded in. Lipid peroxides decay to release α,β-unsaturated aldehydes that are reactive electrophile species (RES). Acrolein is one of the most abundant and reactive RES produced in chloroplasts. Here, in the model chlorophyte alga Chlamydomonas reinhardtii, a clear concentration-dependent "distress" induced by acrolein intoxication was observed in conjunction with depletion of the glutathione pool...
March 18, 2018: Free Radical Biology & Medicine
Claudia Cava, Gloria Bertoli, Antonio Colaprico, Gianluca Bontempi, Giancarlo Mauri, Isabella Castiglioni
Like other cancer diseases, prostate cancer (PC) is caused by the accumulation of genetic alterations in the cells that drives malignant growth. These alterations are revealed by gene profiling and copy number alteration (CNA) analysis. Moreover, recent evidence suggests that also microRNAs have an important role in PC development. Despite efforts to profile PC, the alterations (gene, CNA, and miRNA) and biological processes that correlate with disease development and progression remain partially elusive. Many gene signatures proposed as diagnostic or prognostic tools in cancer poorly overlap...
March 19, 2018: International Journal of Molecular Sciences
Félix Hernández, María Llorens-Martín, Marta Bolós, Mar Pérez, Raquel Cuadros, Noemí Pallas-Bazarra, Juan C Zabala, Jesús Avila
Alzheimer's disease (AD) is characterized by the presence of two aberrant structures: namely senile plaques, composed of amyloid-β peptide (Aβ), and neurofibrillary tangles, composed of tau protein. In this regard, Aβ and tau protein have been widely studied in research efforts aiming to find a therapy for AD. Aβ and tau pathologies do not always overlap. The precursor of Aβ is expressed in peripheral tissues and in the central nervous system (CNS), whereas tau is mainly a neuronal protein. Since AD is a disease of the CNS, it has been proposed that Aβ may initiate the disease process, with tau being the executor...
March 16, 2018: Journal of Alzheimer's Disease: JAD
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