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Ashley de Marchena, Judith Miller
Many individuals with ASD have a distinctive behavioral presentation that is recognizable within moments, a phenomenon we call "frank" ASD. This phenomenon has been discussed informally for decades, perhaps as "classic" ASD; however, there is no unitary "classic" presentation, and classic autism does not seem to correspond to level of functioning. Thus, neither "frank" nor "classic" autism has been delineated or studied as a research construct. To initiate the empirical study of frank ASD, we surveyed 151 clinicians, from a range of disciplines that diagnose ASD, about this phenomenon...
October 21, 2016: Autism Research: Official Journal of the International Society for Autism Research
Jimoh Agbaje, Antoon De Laat, Politis Constantinus, Peter Svensson, Lene Baad-Hansen
Qualitative somatosensory testing (QualST) is a simple chairside test. It can be used to roughly assess the presence or absence of altered somatosensory function. To use QualST clinically, it is important to assess its agreement with quantitative sensory testing (QST). The aims of this study were to assess the agreement between QST and QualST when testing the modulation of facial sensitivity by capsaicin in healthy participants and to explore the agreement between QST and QualST in assessing the intraoral sensory function in clinical atypical odontalgia (AO) patients...
October 22, 2016: Journal of Oral Rehabilitation
Masaki Hashimoto, Shigeki Shimizu, Teruhisa Takuwa, Yoshitane Tsukamoto, Tohru Tsujimura, Seiki Hasegawa
BACKGROUND: An atypical type A thymoma variant was newly added to the WHO classification of type A thymoma family in 2015. CASE PRESENTATION: A 72-year-old female was present a large round mass in the anterior mediastinum. The radiological examination led to a preoperative diagnosis of non-invasive thymoma. Tumor resection was undertaken via median sternotomy. Complete removal of the mediastinal tumor was achieved. Pathological examination revealed that the tumor cells were spindle- and oval-shaped with atypia...
December 2016: Surgical Case Reports
Verena Clarissa Samara, Adam de Havenon
Acute myelopathy is a rare presentation of systemic T-cell lymphoma. We present the case of a man aged 68 years with a diffuse erythematous maculopapular rash, followed by lower extremity paresthesias and progressive lower extremity weakness. Spinal MRI showed longitudinally extensive T2 hyperintensity with diffuse contrast enhancement. An atypical clonal T-lymphocyte population was identified in cerebrospinal fluid, peripheral blood and bone marrow aspirate, indicating a malignant T-cell lymphoproliferative disorder...
October 21, 2016: BMJ Case Reports
Yuzuki Kanda, Miho Okada, Rina Ikarashi, Eri Morioka, Takashi Kondo, Masayuki Ikeda
Clozapine (Clz) and olanzapine (Olz) are second generation (atypical) antipsychotics, used widely for treating schizophrenia and bipolar disorder. These drugs share multiple sites of actions, however their mechanisms remain incompletely understood. Here, we analyzed the effects of these drugs on primary cultures of rat cortical astrocytes and C6 glioma cells using fura-2-based Ca(2+) imaging. C6 cells, but not cortical astrocytes, express the serotonin 2A receptor subtype, which couples to phospholipase C. Clz (1μM) significantly blocked serotonin-induced Ca(2+) transients in C6 cells, consistent with known antagonistic actions of Clz...
October 18, 2016: Neuroscience Letters
Ron Bochner, Liat Samuelov, Ofer Sarig, Qiaoli Li, Christopher A Adase, Ofer Isakov, Natalia Malchin, Dan Vodo, Ronna Shayevitch, Alon Peled, Benjamin D Yu, Gilad Fainberg, Emily Warshauer, Noam Adir, Noam Erez, Andrea Gat, Yehonatan Gottlieb, Tova Rogers, Mor Pavlovsky, Ilan Goldberg, Noam Shomron, Aileen Sandilands, Linda E Campbell, Stephanie MacCallum, W H Irwin McLean, Gil Ast, Richard L Gallo, Jouni Uitto, Eli Sprecher
Congenital erythroderma is a rare and often life-threatening condition, which has been shown to result from mutations in several genes encoding important components of the epidermal differentiation program. Using whole exome sequencing, we identified in a child with congenital exfoliative erythroderma, hypotrichosis, severe nail dystrophy and failure to thrive, two heterozygous mutations in ABCA12 (c.2956C>T, p.R986W; c.5778+2T>C, p. G1900Mfs*16), a gene known to be associated with 2 forms of ichthyosis, autosomal recessive congenital ichthyosis and harlequin ichthyosis...
October 18, 2016: Journal of Investigative Dermatology
C H M Cheung, R Bedford, M H Johnson, T Charman, T Gliga
An enhanced ability to detect visual targets amongst distractors, known as visual search (VS), has often been documented in Autism Spectrum Disorders (ASD). Yet, it is unclear when this behaviour emerges in development and if it is specific to ASD. We followed up infants at high and low familial risk for ASD to investigate how early VS abilities links to later ASD diagnosis, the potential underlying mechanisms of this association and the specificity of superior VS to ASD. Clinical diagnosis of ASD as well as dimensional measures of ASD, attention-deficit/hyperactivity disorder (ADHD) and anxiety symptoms were ascertained at 3 years...
September 30, 2016: Developmental Cognitive Neuroscience
Angela L Perez, Monty Liong, Kevin Plotkin, Keith P Rickabaugh, Dennis J Paustenbach
This study provides an exposure and risk assessment of diundecyl phthalate (DUP), a high molecular weight phthalate plasticizer present in automobile interiors. Total daily intake of DUP was calculated from DUP measured in wipe samples from vehicle seats from six automobiles. Four of the vehicles exhibited atypical visible surface residue on the seats. Two vehicles with no visible surface residue were sampled as a comparison. DUP was the predominant organic compound identified in each of the wipes from all seats...
October 18, 2016: Chemosphere
Tristan Barbeyron, François Thomas, Valérie Barbe, Hanno Teeling, Chantal Schenowitz, Carole Dossat, Alexander Goesmann, Catherine Leblanc, Frank Oliver Glöckner, Mirjam Czjzek, Rudolf Amann, Gurvan Michel
The marine flavobacterium Zobellia galactanivorans Dsij(T) was isolated from a red alga and by now constitutes a model for studying algal polysaccharide bioconversions. We present an in-depth analysis of its complete genome and link it to physiological traits. Z. galactanivorans exhibited the highest gene numbers for glycoside hydrolases, polysaccharide lyases and carbohydrate esterases and the second highest sulfatase gene number in a comparison to 125 other marine heterotrophic bacteria (MHB) genomes. Its genome contains 50 Polysaccharide Utilization Loci, 22 of which contain sulfatase genes...
October 21, 2016: Environmental Microbiology
Richard Bergholz, Mirjam Rossel, Jan Schroeter, Ralf M Dutescu, Daniel J Salchow
BACKGROUND/PURPOSE: Toxic maculopathy is a rare but severe complication of chloroquine intake. Although the phenotype of established maculopathy was analyzed in detail, few data exist on the ophthalmologic findings in the early stage. METHODS: The authors present 4 female patients with unequivocal signs of chloroquine maculopathy (bilateral [peri-]central scotoma in the visual fields, structural alterations of the macula in the optical coherence tomography) but normal or atypical findings as to fundus autofluorescence imaging...
October 20, 2016: Retinal Cases & Brief Reports
Valentina Talarico, Monica Aloe, Alice Monzani, Roberto Miniero, Gianni Bona
Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy defined by thrombocytopenia, non-immune microangiopathic hemolytic anemia and acute renal failure. HUS is typically classified into two primary types: 1) HUS due to infections, often associated with diarrhea (D+HUS, Shiga toxin-producing Escherichia Coli-HUS), with the rare exception of HUS due to a severe disseminated infection caused by Streptococcus; 2) HUS related to complement, such HUS is also known as "atypical HUS" and is not diarrhea associated (D-HUS, aHUS); but recent studies have shown other forms of HUS, that can occur in the course of systemic diseases or physiopathological conditions such as pregnancy, after transplantation or after drug assumption...
December 2016: Minerva Pediatrica
Audrey Mirand, François Vié le Sage, Bruno Pereira, Robert Cohen, Corinne Levy, Christine Archimbaud, Hélène Peigue-Lafeuille, Jean-Luc Bailly, Cécile Henquell
The clinical impact of enteroviruses associated with hand, foot and mouth disease (HFMD) is unknown outside Asia, and the prevalence of enterovirus A71 (EV-A71) in particular might be underestimated. To investigate the prevalence of enterovirus serotypes and the clinical presentations associated with HFMD in France, we conducted prospective ambulatory clinic-based surveillance of children during April 2014-March 2015. Throat or buccal swabs were collected from children with HFMD and tested for the enterovirus genome...
November 2016: Emerging Infectious Diseases
Lisa A O'Hara, Renée Båge, Kjell Holtenius
BACKGROUND: Optimal body condition in early lactation is generally accepted as a prerequisite for good reproductive performance. Examination of milk progesterone profiles offers an objective method for characterization of postpartum ovarian activity in dairy cows. The present study investigated the relationship between body condition after calving, some metabolic parameters in blood plasma, and fertility, as reflected by milk progesterone profiles in the two dairy breeds Swedish Red (SR) and Swedish Holstein (SH)...
October 20, 2016: Acta Veterinaria Scandinavica
Meenaxi Sharda, Anil Soni, Harish Nigam, Anuraj Singh, Nitasha Sharma
Acute scrotal edema associated with dengue fever is a rare and self limiting condition resolving in a few days without any complication or sequelae. We report two cases of dengue fever in father and son which presented simultaneously with acute scrotal edema.
October 2016: Journal of the Association of Physicians of India
M E Pennant, R Mehta, P Moody, G Hackett, A Prentice, S J Sharp, R Lakshman
BACKGROUND: Endometrial biopsies are undertaken in premenopausal women with abnormal uterine bleeding but the risk of endometrial cancer or atypical hyperplasia is unclear. OBJECTIVES: To conduct a systematic literature review to establish the risk of endometrial cancer and atypical hyperplasia in premenopausal women with abnormal uterine bleeding. SEARCH STRATEGY: Search of PubMed, Embase and the Cochrane Library from database inception to August 2015...
October 20, 2016: BJOG: An International Journal of Obstetrics and Gynaecology
Yaling Yang, Shantanu H Joshi, Neda Jahanshad, Paul M Thompson, Laura A Baker
Verbal and physical aggression begin early in life and steadily decline thereafter in normal development. As a result, elevated aggressive behavior in adolescence may signal atypical development and greater vulnerability for negative mental and health outcomes. Converging evidence suggests that brain disturbances in regions involved in impulse control, emotional regulation, and sensation seeking may contribute to heightened aggression. However, little is known regarding the neural mechanisms underlying subtypes of aggression (i...
October 21, 2016: Aggressive Behavior
Abhishek Gupta, Madhivanan Karthigeyan, Kirti Gupta, Pravin Salunke
INTRODUCTION: Desmoplastic infantile tumors, especially desmoplastic astrocytomas, are uncommon neoplasms that are generally seen within first 2 years of life. Their occurrence in slightly older children is very rare. The typical radiological appearance is a large cystic lesion with small enhancing solid part. CASE: In the present report, we describe a 10-year-old child with atypical appearance of desmoplastic non-infantile astrocytoma which was predominantly solid on imaging...
October 20, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Jungo Imanishi, Yasuo Yazawa, Tsuyoshi Saito, Michio Shimizu, Hiroyuki Kawashima, Keisuke Ae, Akihiko Matsumine, Tomoaki Torigoe, Hideshi Sugiura, Susumu Joyama
No abstract text is available yet for this article.
October 20, 2016: International Journal of Clinical Oncology
Ewa Papuć, Konrad Rejdak
There is emerging evidence that glial cells are involved in the neuropathological process in Parkinson's disease (PD) in addition to degeneration of neuronal structures. Recently, we confirmed the presence of an adaptive immune response against different glial-derived antigens in PD, with a possible role of anti-MAG, anti-MBP and anti-PLP antibodies in the disease progression. The aim of the present study was to assess humoral response against myelin-associated glycoprotein (MAG) in patients with parkinsonism (both idiopathic and atypical) to check whether these antibodies could serve as biomarkers of PD, its severity and progression...
October 20, 2016: Journal of Neural Transmission
A L Adams, F Xue, J Q Chantra, R M Dell, S M Ott, S Silverman, J C Giaconi, C Critchlow
: Using the American Society for Bone and Mineral Research Task Force case definition for atypical femoral fractures, sensitivity and specificity of radiographic fracture characteristics were calculated. Fracture pattern was the most sensitive and specific characteristic. This suggests that some characteristics should be weighted more heavily when identifying these fractures. INTRODUCTION: To estimate the sensitivity and specificity of each radiographic criterion in the 2013 ASBMR atypical femoral fracture (AFF) case definition for distinguishing AFF from other subtrochanteric/diaphyseal fractures (non-AFF) among women enrolled in a large integrated health care organization...
October 21, 2016: Osteoporosis International
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