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https://www.readbyqxmd.com/read/28918619/discoid-lupus-erythematosus-presenting-as-upper-eyelid-edema-and-erythema
#1
Abbas Darjani, Rana Rafiei, Alireza Mesbah, Razieh Golmohammadi, Behnam Rafiee, Mehriar Movaseghi
Discoid Lupus Erythematosus (DLE) is an autoimmune disorder that usually occurs on sun exposed areas of head and neck. Infrequently it could be presented by palpebral involvement and rarely unilateral upper eye lid edema and erythema have been reported as the sole manifestation of DLE. We describe a 38-year-old woman with chronic left upper eye lid edema and erythema from one year ago which was induced by steroid injection for left eyebrow alopecia. Histopathologic and direct immunofluorescent studies were made on palpebral skin tissue and confirmed DLE diagnosis...
July 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28918531/penetrating-orbital-trauma-leading-to-trans-orbital-brain-herniation
#2
Siddharth Vankipuram, Chittij Srivastava, B K Ojha, Sushant Sahoo
INTRODUCTION: Development of a posttraumatic herniation of brain parenchyma through the orbit is a rare complication of orbital roof fracture. Mostly, the injury is due to a direct impact to the frontal region resulting in orbital roof fracture with dural defect and herniation of cerebrospinal fluid or brain parenchyma. These patients present with acute or gradually progressive proptosis with impending risk of loss of vision and mandate surgical decompression of optic nerve with watertight closure of the dural defect...
September 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28918410/-just-like-a-normal-pain-what-do-people-with-diabetes-mellitus-experience-when-having-a-myocardial-infarction-a-qualitative-study-recruited-from-uk-hospitals
#3
Nikita Berman, Melvyn Mark Jones, Daan A De Coster
OBJECTIVE: The objective of the study was to investigate the symptoms people with diabetes experience when having a myocardial infarction (MI), their illness narrative and how they present their symptoms to the health service. SETTING: Three London (UK) hospitals (coronary care units and medical wards). PARTICIPANTS: Patients were recruited with diabetes mellitus (DM) (types 1 and 2) with a clinical presentation of MI (ST elevated MI (STEMI), non-ST elevated MI (NSTEMI), acute MI unspecified and cardiac arrest)...
September 15, 2017: BMJ Open
https://www.readbyqxmd.com/read/28918406/rare-cause-of-colonic-intussusception-in-an-adult
#4
Alexander Nissen, Fia Yi
Colonic intussusception is an uncommon phenomenon in adults. Advanced imaging has facilitated the increase in awareness of this rare disease. When present, the lead point is most often secondary to a malignancy with primary adenocarcinoma being the most frequent cause. Current surgical management involves oncologic resections for this reason. This is a report of the third ever-reported case of colonic intussusception secondary to an angiolipoma and the first in the western hemisphere. We also demonstrate that these masses are amenable to minimally invasive resection for definitive management...
September 15, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28918405/renal-cell-carcinoma-with-isolated-metastasis-to-sigmoid-mesentery-a-rare-resectable-combination
#5
Hira Lal, Priyank Yadav, Shashidhar Achar, Uday Pratap Singh
Renal cell carcinoma accounts for 2%-3% of all malignancies in adults. It spreads via direct extension, lymphatic route as well as haematogenous route. Lymph nodes, lungs, bone, liver and brain are the usual sites for its metastatic spread. In the presence of limited metastatic disease with potentially resectable metastases, surgery offers the best chances of cure. In the present case, we describe a case of renal cell carcinoma with a solitary metastasis to the sigmoid mesentery in a patient with Von Hippel-Lindau syndrome...
September 15, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28918402/rare-case-of-primary-leiomyosarcoma-of-sigmoid-mesocolon
#6
Aizat Sabri Ilias, Huzairi Yaacob, Wan Zainira Wan Zain, Andee Dzulkarnaen Zakaria
We experienced a rare case of primary leiomyosarcoma of sigmoid mesentery. A 45-year-old woman was presented to us with left iliac fossa mass and discomfort for 4-month duration. CT scan of abdomen and pelvis revealed a huge mass 14 cm×14 cm×16 cm occupying left iliac fossa mimicked having a large left ovarian carcinoma. She was subsequently planned for elective total abdominal hysterectomy and bilateral salpingo-oophorectomy by gynaecology team. During laparotomy, a huge mass was revealed arising from sigmoid mesentery invaded to the left lower ureter...
September 15, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28918392/cnvs-affecting-cancer-predisposing-genes-cpgs-detected-as-incidental-findings-in-routine-germline-diagnostic-chromosomal-microarray-cma-testing
#7
Josie Innes, Lisa Reali, Jill Clayton-Smith, Georgina Hall, Derek Hk Lim, George J Burghel, Kim French, Unzela Khan, Daniel Walker, Fiona Lalloo, D Gareth R Evans, Dominic McMullan, Eamonn R Maher, Emma R Woodward
BACKGROUND: Identification of CNVs through chromosomal microarray (CMA) testing is the first-line investigation in individuals with learning difficulties/congenital abnormalities. Although recognised that CMA testing may identify CNVs encompassing a cancer predisposition gene (CPG), limited information is available on the frequency and nature of such results. METHODS: We investigated CNV gains and losses affecting 39 CPGs in 3366 pilot index case individuals undergoing CMA testing, and then studied an extended cohort (n=10 454) for CNV losses at 105 CPGs and CNV gains at 9 proto-oncogenes implicated in inherited cancer susceptibility...
September 16, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28918296/trichobezoar-with-and-without-rapunzel-syndrome-in-paediatric-population-a-case-series-from-a-tertiary-care-centre-of-northern-india
#8
Pradeep Kajal, Namita Bhutani, Niharika Tyagi, Pratibha Arya
INTRODUCTION: Trichobezoars are concretions formed by accumulation of hair in stomach. Usually, trichobezoar is confined to the stomach, but rarely it may extend from the stomach to the small intestine and even colon. This is an unusual form called Rapunzel syndrome. Our experience with this rare entity of Rapunzel syndrome and interesting entity of trichobezoar is being presented with review of literature. PRESENTATION OF CASES: We, at our institute, encountered four cases of trichobezoar in last five years, out of which two were found to be of Rapunzel syndrome...
September 8, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28918293/insight-into-the-h2s-selective-catalytic-oxidation-performance-on-well-mixed-ce-containing-rare-earth-catalysts-derived-from-mgalce-layered-double-hydroxides
#9
Fenglian Zhang, Xin Zhang, Zhengping Hao, Guoxia Jiang, Hongling Yang, Siqiu Qu
A series of well-mixed Ce-containing MgAlCe rare earth catalysts derived from layered double hydroxides were synthesized and tested for H2S selective catalytic oxidation. Particularly, no chemisorption O-vacancies but intrinsic defect sites were present on catalyst surface. Significantly, the catalysts exhibited excellent catalytic activity, reasonable durability, and outstanding sulfur selectivity (100%) at relatively low temperatures. Furthermore, the catalyst followed a step-wise mechanism, and the catalyst deactivation was due mainly to the slower oxidation rate of Ce(3+) to Ce(4+) by O2 as compared to the reduction rate of Ce(4+) to Ce(3+) by H2S...
September 9, 2017: Journal of Hazardous Materials
https://www.readbyqxmd.com/read/28918280/from-sport-hunting-to-breeding-success-patterns-of-lead-ammunition-ingestion-and-its-effects-on-an-endangered-raptor
#10
José M Gil-Sánchez, Saray Molleda, José A Sánchez-Zapata, Jesús Bautista, Isabel Navas, Raquel Godinho, Antonio J García-Fernández, Marcos Moleón
Lead is highly toxic for wildlife, with pernicious consequences especially in long-lived predators. The causes of lead ammunition ingestion in Bonelli's eagle (Aquila fasciata) and its effects on breeding success were studied in one of the most important populations of this endangered species in Europe. Regurgitated pellets belonging to different pairs from 2004 to 2014 were analyzed, both in the breeding (1363 pellets from 12 territories) and non-breeding (172 pellets from 9 territories) seasons. From these territories, 57 molted feathers to study lead contamination were analyzed, and breeding success was monitored for 41 breeding attempts...
September 14, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28918240/contingency-management-treatment-in-cocaine-using-methadone-maintained-patients-with-and-without-legal-problems
#11
Meredith K Ginley, Carla J Rash, Todd A Olmstead, Nancy M Petry
BACKGROUND: Legal difficulties and cocaine use are prevalent in methadone maintenance patients, and they are related to one another, as well as to poor response to methadone treatment. Contingency management (CM) is efficacious for decreasing cocaine use, but the relation of CM treatment to criminal activities has rarely been studied. METHODS: This study evaluated whether baseline legal problems are related to subsequent substance use and illegal activities for cocaine using methadone maintained patients and whether CM differentially improves outcomes depending on baseline legal problems...
September 8, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/28918117/mild-traumatic-brain-injury-in-a-high-school-football-player-with-familial-hemiplegic-migraine-a-case-report
#12
Manisha R Chand, Sumit Kanwar, Evan Peck
Mild traumatic brain injury is a major concern in young athletes, with an estimated 1.6 to 3.8 million reported concussions in the US annually. Familial hemiplegic migraine is a rare autosomal-dominant condition characterized by sporadic episodes of transient unilateral motor weakness which may begin at any age. We present a case of a 17-year-old male with a history of familial hemiplegic migraine who suffered prolonged symptoms following a mild traumatic brain injury during sports participation.
September 13, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28918065/the-role-of-epigenetics-in-lysosomal-storage-disorders-uncharted-territory
#13
REVIEW
Shahzeb Hassan, Ellen Sidransky, Nahid Tayebi
The study of the contribution of epigenetic mechanisms, including DNA methylation, histone modifications, and microRNAs, to human disease has enhanced our understanding of different cellular processes and diseased states, as well as the effect of environmental factors on phenotypic outcomes. Epigenetic studies may be particularly relevant in evaluating the clinical heterogeneity observed in monogenic disorders. The lysosomal storage disorders are Mendelian disorders characterized by a wide spectrum of associated phenotypes, ranging from neonatal presentations to symptoms that develop in late adulthood...
August 1, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28917829/a-chinese-boy-with-geleophysic-dysplasia-caused-by-compound-heterozygous-mutations-in-adamtsl2
#14
Li Dongxiao, Dong Hui, Zheng Hong, Song Jinqing, Li Xiyuan, Jin Ying, Liu Yupeng, Yang Yanling
Geleophysic dysplasia, belonging to the group of acromelic dysplasia, is a rare genetic disease. Two genes, FBN1 and ADAMTSL2, were known to be linked to this disorder. The disorder presents as extreme short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness, toe walking, skin thickening, progressive cardiac valvular thickening and characteristic facial features, including a round face with full cheeks. Here, we report the first Chinese case with geleophysic dysplasia type 1 based on clinical and genetic features...
September 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28917702/hominin-track-assemblages-from-okote-member-deposits-near-ileret-kenya-and-their-implications-for-understanding-fossil-hominin-paleobiology-at-1-5%C3%A2-ma
#15
Kevin G Hatala, Neil T Roach, Kelly R Ostrofsky, Roshna E Wunderlich, Heather L Dingwall, Brian A Villmoare, David J Green, David R Braun, John W K Harris, Anna K Behrensmeyer, Brian G Richmond
Tracks can provide unique, direct records of behaviors of fossil organisms moving across their landscapes millions of years ago. While track discoveries have been rare in the human fossil record, over the last decade our team has uncovered multiple sediment surfaces within the Okote Member of the Koobi Fora Formation near Ileret, Kenya that contain large assemblages of ∼1.5 Ma fossil hominin tracks. Here, we provide detailed information on the context and nature of each of these discoveries, and we outline the specific data that are preserved on the Ileret hominin track surfaces...
September 13, 2017: Journal of Human Evolution
https://www.readbyqxmd.com/read/28917701/paleoecological-insights-from-fossil-freshwater-mollusks-of-the-kanapoi-formation-omo-turkana-basin-kenya
#16
Bert Van Bocxlaer
The Early Pliocene Kanapoi Formation of the Omo-Turkana Basin consists of two fluvial/deltaic sedimentary sequences with an intermediate lacustrine sequence that was deposited in Paleolake Lonyumun, the earliest large lake in the basin. Overall, the geology and vertebrate paleontology of the Kanapoi Formation are well studied, but its freshwater mollusks, despite being a major component of the benthic ecosystem, have not been subjected to in-depth study. Here I present the first treatment of these mollusks, which have been retrieved mainly from the lacustrine but also from the upper fluvial sediments, with a focus on paleoecological implications...
September 13, 2017: Journal of Human Evolution
https://www.readbyqxmd.com/read/28917680/effusive-constrictive-pericarditis-after-pericardiocentesis-incidence-associated-findings-and-natural-history
#17
Kye Hun Kim, William R Miranda, Larry J Sinak, Faisal F Syed, Rowlens M Melduni, Raul E Espinosa, Garvan C Kane, Jae K Oh
OBJECTIVES: This study sought to investigate the incidence, associated findings, and natural history of effusive-constrictive pericarditis (ECP) after pericardiocentesis. BACKGROUND: ECP is characterized by the coexistence of tense pericardial effusion and constriction of the heart by the visceral pericardium. Echocardiography is currently the main diagnostic tool in the assessment of pericardial disease, but limited data have been published on the incidence and prognosis of ECP diagnosed by echo-Doppler...
September 9, 2017: JACC. Cardiovascular Imaging
https://www.readbyqxmd.com/read/28917584/pneumatoceles-in-pediatric-blunt-trauma-common-and-benign
#18
Lindsey B Armstrong, David P Mooney
INTRODUCTION: Traumatic pneumatoceles are reported to be rare in children and to have an uncertain clinical significance. We report a single institution series of traumatic pneumatoceles to better define their frequency and clinical significance. METHODS: After obtaining approval from the IRB, data were extracted from the trauma registry of a level 1 pediatric trauma center on children diagnosed with a pulmonary contusion (International Classification of Diseases-9th edition diagnosis codes: 861...
August 7, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28917574/-apparent-worsening-of-psoriasis-lesions-revealing-methotrexate-overdosage
#19
R Haber, B Baroudjian, M Battistella, M Bagot, A Petit
BACKGROUND: Methotrexate (MTX) is an antimetabolite drug used in the treatment of cancers and autoimmune diseases and frequently in dermatology for cutaneous and/or arthritic psoriasis. Toxicities due to MTX overdosage are mainly cutaneous, hepatic and hematologic. Herein, we report a case of MTX overdosage presenting as an erosive and an inflammatory flare of preexisting psoriatic plaques and with new palmar lesions. PATIENTS AND METHODS: A 51-year-old male with a 6-year history of plaque psoriasis resistant to topical corticosteroids was started for the first time on MTX 20mg weekly...
September 13, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28917218/erythema-elevatum-diutinum-in-crohn-s-disease-associated-spondyloarthritis-a-rare-vasculitis-an-unusual-association
#20
Maria João Gonçalves, Vasco C Romão, Luís Soares-de-Almeida, Helena Canhão, José Carlos Romeu, Heinz Kutzner, José Alberto Pereira-da-Silva
Erythema elevatum diutinum is a rare neutrophilic dermatoses with vasculitis, which presents as persistent, symmetrical, purple or brownish papules and nodules, mainly in the extensor surface of the limbs. We describe a case of erythema elevatum diutinum and polyarthritis as initial manifestations of Crohn's disease associated spondyloarthritis. A 51-year-old man, from São Tomé e Príncipe, with previous history of treated tuberculosis and chronic hepatitis B infection, was admitted due to 4 months history of polyarthritis, hyperpigmented papules on the extensor surfaces, occasional episodes of bloody mucous diarrhea and significant weight loss...
September 14, 2017: Acta Reumatológica Portuguesa
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