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https://www.readbyqxmd.com/read/28646230/il-1%C3%AE-increases-asporin-expression-via-the-nf-%C3%AE%C2%BAb-p65-pathway-in-nucleus-pulposus-cells-during-intervertebral-disc-degeneration
#1
Shengjie Wang, Chao Liu, Zhongyi Sun, Peng Yan, He Liang, Kai Huang, Changwei Li, Jiwei Tian
Disc degeneration (DD) is a multifaceted chronic process that alters the structure and function of intervertebral discs. The pathophysiology of degeneration is not completely understood, but the consensus is that changes in genes encoding extracellular matrix (ECM) proteins in the disc are the leading factors contributing to DD. Asporin is an ECM protein that has been shown to be increased in degenerated intervertebral discs, but little is known about how asporin is regulated during DD. In exploring the intricate mechanism, we confirmed that asporin was abundantly increased in patients' degenerated nucleus pulposus...
June 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28645799/genotype-phenotype-evaluation-of-med13l-defects-in-the-light-of-a-novel-truncating-and-a-recurrent-missense-mutation
#2
Reza Asadollahi, Markus Zweier, Laura Gogoll, Raphael Schiffmann, Heinrich Sticht, Katharina Steindl, Anita Rauch
A decade after the designation of MED13L as a gene and its link to intellectual disability (ID) and dextro-looped transposition of great arteries in 2003, we previously described a recognizable syndrome due to MED13L haploinsufficiency. Subsequent reports of 22 further patients diagnosed by genome-wide testing further delineated the syndrome with expansion of the phenotypic spectrum and showed reduced penetrance for congenital heart defects. We now report two novel patients identified by whole exome sequencing, one with a de novo MED13L truncating mutation and the other with a de novo missense mutation...
June 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28645750/the-effect-of-future-time-perspective-on-delay-discounting-is-mediated-by-the-gray-matter-volume-of-vmpfc
#3
Yiqun Guo, Zhiyi Chen, Tingyong Feng
Although several previous studies have shown that individuals' attitude towards time could affect their intertemporal preference, little is known about the neural basis of the relation between time perspective (TP) and delay discounting. In the present study, we quantified the gray matter (GM) cortical volume using voxel-based morphometry (VBM) methods to investigate the effect of TP on delay discounting (DD) across two independent samples. For group 1 (102 healthy college students; 46 male; 20.40±1.87 years), behavioral results showed that only Future TP was a significant predictor of DD, and higher scores on Future TP were related to lower discounting rates...
June 20, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28645678/endolymphatic-hydrops-imaging-differential-diagnosis-in-patients-with-meniere-disease-symptoms
#4
A Attyé, M Eliezer, A Galloux, J Pietras, I Tropres, S Schmerber, G Dumas, A Krainik
PURPOSE: The goal of this retrospective study was to investigate the differential diagnosis of endolymphatic hydrops in patients with Meniere's disease (MD) symptoms by using magnetic resonance imaging (MRI) with intravenous injection of gadolinium chelate and delayed acquisition. MATERIAL AND METHOD: Two hundred patients (133 women, 67 men; mean age=67.2±11 ([SD] years) with unilateral MD underwent MRI at 3-T, between 4.5 and 5.5hours after intravenous administration of gadoterate meglumine at a dose of 0...
June 20, 2017: Diagnostic and Interventional Imaging
https://www.readbyqxmd.com/read/28645295/identification-of-the-flotillin-1-2-heterocomplex-as-a-target-of-autoantibodies-in-bona-fide-multiple-sclerosis
#5
S Hahn, G Trendelenburg, M Scharf, Y Denno, S Brakopp, B Teegen, C Probst, K P Wandinger, M Buttmann, A Haarmann, F Szabados, M Vom Dahl, T Kümpfel, P Eichhorn, H Gold, F Paul, S Jarius, N Melzer, W Stöcker, L Komorowski
BACKGROUND: Autoantibodies, in particular those against aquaporin-4 and myelin-oligodendrocyte glycoprotein (MOG), aid as biomarkers in the differential diagnosis of demyelination. Here, we report on discovery of autoantibodies against flotillin in patients with multiple sclerosis (MS). METHODS: The target antigen was identified by histo-immunoprecipitation using the patients' sera and cryosections of rat or pig cerebellum combined with mass spectrometrical analysis...
June 23, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28645096/incidental-focal-uptake-in-the-breast-and-axilla-on-fdg-pet-clinical-considerations-and-differential-diagnosis
#6
Andrea L Magee, Brittany Z Dashevsky, Kayleen Jahangir, Kirti Kulkarni
Incidental focal FDG uptake in the breast or axilla on PET/CT performed for evaluation of extra-mammary primary disease presents a diagnostic challenge. Radiologists must consider a broad differential diagnosis, assess clinical history, and judiciously employ other imaging modalities such as mammography, ultrasound and MRI in the pursuit of findings which help narrow the differential diagnosis. Tissue sampling may be reserved for nondiagnostic imaging scenarios.
June 15, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/28644686/cervical-adenocarcinoma-diagnosis-of-human-papillomavirus-positive-and-human-papillomavirus-negative-tumors
#7
Edyta C Pirog
CONTEXT: - Cervical adenocarcinomas span a diverse group of tumors with several distinct histologic tumor types, which include endocervical, endometrioid, intestinal, villoglandular, gastric, signet ring, serous, clear cell, and mesonephric. Diagnosis of cervical adenocarcinoma, especially early diagnosis, poses a significant challenge. OBJECTIVE: - To review the pathogenesis, diagnostic criteria, immunohistochemical markers, and differential diagnosis of various subtypes of human papillomavirus (HPV)-positive and HPV-negative cervical adenocarcinomas...
June 23, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28644588/clinical-consensus-guidelines-on-the-application-of-cerebrospinal-fluid-biomarkers-for-alzheimer-s-disease-diagnosis-recommendations-of-the-irish-network-for-biomarkers-in-neurodegeneration
#8
A M Miller, E Begley, R Coen, M Doyle, J Dunne, S Hutchinson, S P Kennelly, R A Kenny, R P Killeen, A Lynch, S O'Dwyer, C O'Neill, S S O'Sullvan, M J Rowan, N Sheehy, C McGuigan, B A Lawlor
It is accepted that a lumbar puncture (LP) and cerebrospinal fluid (CSF) biomarker analysis support the routine diagnostic work-up for the differential diagnosis of dementia due to Alzheimer's disease (AD) within certain patient cohorts1. These tests, which measure CSF protein concentrations of amyloid-β42 (Aβ42), total tau (t-tau) and phospho tau (p-tau), were recently validated, accredited and made available clinically for the first time in Ireland. A working group, comprising Irish clinical and scientific researchers, met to review a) the validation results; b) international consensus opinions, and c) research and clinical evidence as to the clinical utility of CSF biomarker analysis for AD dementia diagnosis...
December 12, 2016: Irish Medical Journal
https://www.readbyqxmd.com/read/28644175/guillain-barr%C3%A3-syndrome-after-elective-spinal-surgery
#9
Eric Yensen Chen, Corinne Stratton, Brian Mercer, Anna Hohler, Tony Y Tannoury, Chadi Tannoury
Guillain-Barré syndrome is a rare autoimmune condition characterized by ascending motor weakness of the extremities that can ascend to the diaphragm, causing substantial morbidity and mortality. This case report describes a 57-year-old man who exhibited characteristics of Guillain-Barré syndrome 9 days after undergoing lumbar fusion at L3-S1. The diagnosis was based on the patient's ascending motor weakness and areflexia and was confirmed with electromyography. The patient progressed to respiratory failure, requiring mechanical ventilation...
June 21, 2017: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/28644110/detailed-magnetic-resonance-imaging-features-of-a-case-series-of-primary-gliosarcoma
#10
Luísa Sampaio, Paulo Linhares, José Fonseca
Objective We aimed to characterise the magnetic resonance imaging (MRI) features of a case series of primary gliosarcoma, with the inclusion of diffusion-weighted imaging and perfusion imaging with dynamic susceptibility contrast MRI. Materials and methods We conducted a retrospective study of cases of primary gliosarcoma from the Pathology Department database from January 2006 to December 2014. Clinical and demographic data were obtained. Two neuroradiologists, blinded to diagnosis, assessed tumour location, signal intensity in T1 and T2-weighted images, pattern of enhancement, diffusion-weighted imaging and dynamic susceptibility contrast MRI studies on preoperative MRI...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28643921/whole-exome-sequencing-identified-a-variant-in-eftud2-gene-in-establishing-a-genetic-diagnosis
#11
S Rengasamy Venugopalan, E G Farrow, M Lypka
OBJECTIVES: Craniofacial anomalies are complex and have an overlapping phenotype. Mandibulofacial Dysostosis and Oculo-Auriculo-Vertebral Spectrum are conditions that share common craniofacial phenotype and present a challenge in arriving at a diagnosis. In this report, we present a case of female proband who was given a differential diagnosis of Treacher Collins syndrome or Hemifacial Microsomia without certainty. Prior genetic testing reported negative for 22q deletion and FGFR screenings...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28643729/differential-diagnoses-of-elevated-lesions-of-the-upper-lip-an-overview
#12
REVIEW
Gowri Pandarinath Bhandarkar, Kushal Vasanth Shetty
This paper comes with a purpose to help the clinician as how to arrive at a logical differential diagnosis when an upper lip mass is encountered in day-to-day practice. The labial mucosa is commonly traumatized. One must be aware of the type of structures contained in the mucosa of the area of a lesion as well as the patients habits since they may relate to a lesion presented for diagnosis. It also helps them to procure a sound knowledge of the lesions by describing the lesions according to their clinical appearance and to aid the clinician in arriving at a differential diagnosis by considering that certain lesions have a predilection for the upper lip...
April 2017: Journal of Cancer Research and Therapeutics
https://www.readbyqxmd.com/read/28642832/internal-jugular-venous-pseudoaneurysm-in-a-patient-with-heart-failure-and-severe-tricuspid-regurgitation
#13
Sujoy Phookan, Patrick T Strickland, Bishoy Hanna, Gregory R Hartlage, Ankit Parikh, Stephen D Clements
The differential diagnosis of a lateral neck mass includes a number of possible etiologies. While jugular venous aneurysms and pseudoaneurysms are rare entities, they should be considered in the differential diagnosis of a pulsatile lateral neck mass. We present a case of an idiopathic jugular venous pseudoaneurysm and its association with worsening tricuspid regurgitation in a patient with heart failure with preserved ejection fraction.
2017: Case Reports in Vascular Medicine
https://www.readbyqxmd.com/read/28642817/cerebral-vasculitis-mimicking-intracranial-metastatic-progression-of-lung-cancer-during-pd-1-blockade
#14
Heinz Läubli, Jürgen Hench, Michal Stanczak, Ingmar Heijnen, Alexandros Papachristofilou, Stephan Frank, Alfred Zippelius, Frank Stenner-Liewen
BACKGROUND: Stimulation of the immune system by targeting the PD-1/PD-L1 pathway can result in activation of anti-tumor immunity. Besides its clinical benefit immune checkpoint therapy leads to significant immune-related adverse events (irAEs). Some rare irAEs are not well described yet but are critical in patient management. CASE PRESENTATION: Here, we describe a case of autoimmune cerebral vasculitis/encephalitis after PD-1 inhibitor treatment for metastatic adenocarcinoma of the lung...
2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28642788/comparison-between-intestinal-beh%C3%A3-et-s-disease-and-crohn-s-disease-in-characteristics-of-symptom-endoscopy-and-radiology
#15
Tianyu Zhang, Liwen Hong, Zhengting Wang, Rong Fan, Maochen Zhang, Yun Lin, Mengmeng Cheng, Xiaolin Zhou, Peijun Sun, Xiaoyi Lin, Jie Zhong
AIM: To evaluate different parameters in differentiating intestinal BD from CD. METHODS: The medical records of inpatients with intestinal BD and CD were retrospectively reviewed. The univariate value of different parameters was analyzed, respectively. A differentiation model was established by pooling all valuable parameters together. Diagnostic efficacy was evaluated, and a receiver operating curve (ROC) was plotted. RESULTS: Forty-two BD patients and ninety-seven CD patients were reviewed...
2017: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/28642183/giant-bi-compartmental-cystic-tentorial-schwannoma-mimicking-a-meningioma
#16
Amandeep Kumar, Manmohan Singh, M C Sharma, P S Chandra, Bhawani S Sharma, Ashok K Mahapatra
BACKGROUND: Intracranial schwannomas most commonly arise from vestibulo-cochlear nerve and less frequently from trigeminal, facial and hypoglossal nerves. However, intracranial schwannomas unrelated to cranial nerves (ISUNs) are very rare and only ∼ 50 such cases have been reported in literature. Amongst these, tentorial schwannomas are even rarer and only 13 cases have been reported till date. We present one such rare case of giant tentorial schwannoma (TS). CASE DESCRIPTION: A 21 year old male patient presented to us with complaints of generalised headache and dizziness for past 6 months and worsening of symptoms for past 2 months...
June 19, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28641772/susac-syndrome-a-differential-diagnosis-of-white-matter-lesions
#17
Mariano Marrodan, Jorge Correale, Lucas Alessandro, Mariela Amaya, Maria Eugenia Fracaro, Alejandro Alfredo Köhler, Marcela Fiol
INTRODUCTION: Susac Syndrome is an autoimmune endotheliopathy affecting capillaries and precapillary arterioles of the brain, inner ear and retina. The classic symptom triad includes visual disturbances, hypoacusia, and encephalopathy, but is rarely fully manifest at onset. The syndrome typically follows an active fluctuating monophasic course. Typical imaging findings on brain magnetic resonance show central fiber microischemias/microinfarctions of the corpus callosum known as "snow balls", as well as lineal infarcts and upper callosal fiber involvement...
July 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28641683/a-review-of-general-aviation-safety-1984-2017
#18
Douglas D Boyd
General aviation includes all civilian aviation apart from operations involving paid passenger transport. Unfortunately, this category of aviation holds a lackluster safety record, accounting for 94% of civil aviation fatalities. In 2014, of 1143 general aviation accidents, 20% were fatal compared with 0 of 29 airline mishaps in the United States. Herein, research findings over the past 30 yr will be reviewed. Accident risk factors (e.g., adverse weather, geographical region, post-impact fire, gender differences) will be discussed...
July 1, 2017: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/28641661/-clinical-and-pathologic-features-of-myeloid-sarcoma
#19
Ya-Jun Jiang, Hong-Xia Wang, Wan-Chuan Zhuang, Hao Chen, Chang Zhang, Xiu-Mei Li, Gui-Hua Zhu, Yao He
OBJECTIVE: To explore the clinicopathologic features, differential diagnosis and therapy of myeloid sarcoma. METHODS: The clinical data including clinical manifestations, laboratorial tests, histopathologicical examination, immunohistochemistry and clinical prognosis of 10 patients with myeloid sarcoma were analyzed retrospectively. Among 10 patients, 5 male and 5 female, aged 23 to 71 years old (median = 36 years). RESULTS: 2 cases of myeloid sarcoma were secondary from chronic myeloid leukemia, and 1 cases of myeloid sarcoma occurred after the allogeneic hematopoietic stem cell transplantation due to acute myeloid leukemia, and the others lacked the anamnesis of malignancies...
June 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28641577/a-case-report-of-septic-shock-syndrome-caused-by-s-pneumoniae-in-an-immunocompromised-patient-despite-of-vaccination
#20
Josef Singer, Christoph Testori, Peter Schellongowski, Ammon Handisurya, Catharina Müller, Eva-Maria Reitter, Wolfgang Graninger, Paul Knöbl, Thomas Staudinger, Stefan Winkler, Florian Thalhammer
BACKGROUND AND CASE PRESENTATION: We report a case of septic shock syndrome caused by Streptococcus pneumoniae in a patient who had undergone splenectomy due to an autoimmune lymphoproliferative syndrome (ALPS), which is characterized as a dysfunction of immunoregulation. Although the patient was vaccinated with a conjugated polysaccharide vaccine after the splenectomy, he was still susceptible to S. pneumoniae infection, because the isolated serovar (24F), a serovar long thought to be apathogenic, is not covered by any vaccine currently approved, neither a conjugated nor an unconjugated polysaccharide one...
June 22, 2017: BMC Infectious Diseases
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