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Clinical Case Report

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https://www.readbyqxmd.com/read/28324925/non-invasive-imaging-of-ventricular-activation-during-pacing-and-arrhythmia-methods-and-validation
#1
Long Yu, Steven Pogwizd, Bin He
Cardiovascular disease continued to be a leading killer world widely. Each year, about 400,000 cases of sudden cardiac arrest are reported in the U.S. alone. Clinically, radio-frequency ablative procedure has become widely applied in the treatment of ventricular arrhythmia. Non-invasive approaches have been demonstrated to be able to provide important information on the arrhythmogenesis and potentially assist in the clinical practice. In this work, we develop and validate a novel temporal sparse based imaging method, Cardiac Electrical Sparse Imaging (CESI)...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28324880/fine-needle-aspiration-cytology-of-diffuse-type-tenosynovial-giant-cell-tumors
#2
Zimin Zhao, Cherie Paquette, Akeesha A Shah, Kristen A Atkins, Henry F Frierson
BACKGROUND: Tenosynovial giant cell tumor (TSGCT), also known as giant cell tumor of tendon sheath or pigmented villonodular synovitis, is the most common benign tumor of the tendon and synovium. The intra-articular diffuse type can present as a large infiltrative mass involving adjacent soft tissue and sometimes causes secondary destruction of bone, which leads to radiographic and clinical concern for malignancy. The tumor may also be purely extra-articular. CASE: Here, we report the fine needle aspiration cytology findings of 2 cases of diffuse-type TSGCT with large mononuclear cells with eccentric nuclei, finely granular cytoplasm, and a peripheral well-defined cytoplasmic rim of hemosiderin ("ladybird cells")...
March 22, 2017: Acta Cytologica
https://www.readbyqxmd.com/read/28324800/breast-textiloma-an-unending-medico-legal-issue-about-a-case-report
#3
Marwa Boussaid, Med Amin Mesrati, Rania Jouirou, Nouha Abdejlil, Abdelfeteh Zakhama, Ali Chadly, Abir Aissaoui
INTRODUCTION: Textiloma is a mass composed of retained surgical textile foreign body. It is a rare iatrogenic complication that can engage the doctor's responsibility. The aim of this manuscript is to report an unusual case of breast Textiloma mimicking a recurrent tumor and to highlight its medico-legal implications. PRESENTATION OF CASE: A 47-year-old lady, without past medical history, was diagnosed with a breast infiltring intraductal carcinoma. She was treated with mastectomy...
March 7, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28324770/a-non-fatal-intoxication-and-seven-deaths-involving-the-dissociative-drug-3-meo-pcp
#4
Anna Johansson, Daniel Lindstedt, Markus Roman, Gunilla Thelander, Elisabet I Nielsen, Ulrica Lennborn, Håkan Sandler, Sten Rubertsson, Johan Ahlner, Robert Kronstrand, Fredrik C Kugelberg
INTRODUCTION: 3-methoxyphencyclidine (3-MeO-PCP) appeared on the illicit drug market in 2011 and is an analogue of phencyclidine, which exhibits anesthetic, analgesic and hallucinogenic properties. In this paper, we report data from a non-fatal intoxication and seven deaths involving 3-MeO-PCP in Sweden during the period March 2014 until June 2016. CASE DESCRIPTIONS: The non-fatal intoxication case, a 19-year-old male with drug problems and a medical history of depression, was found awake but tachycardic, hypertensive, tachypnoeic and catatonic at home...
March 7, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28324677/intermittent-explosive-disorder-and-eating-disorders-analysis-of-national-comorbidity-and-research-samples
#5
Karen M Jennings, Jennifer E Wildes, Emil F Coccaro
OBJECTIVE: Clinical studies suggest comorbidity between eating disorders and aggressive behaviors. This study examined the pattern of comorbidity between intermittent explosive disorder (IED) and eating disorders (ED). METHODS: Data were analyzed from both the adult and adolescent samples of the National Comorbidity Survey-Replication (n = 19,430) and a clinical research sample (n = 1,642). RESULTS: Lifetime prevalence of Any ED was elevated in IED vs...
March 2, 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/28324619/identification-of-a-herv-k-env-surface-peptide-highly-recognized-in-ra-patients-a-cross-sectional-case-control-study
#6
G Mameli, G L Erre, E Caggiu, S Mura, D Cossu, Marco Bo, M L Cadoni, A Piras, N Mundula, E Colombo, G Buscetta, G Passiu, L A Sechi
Endogenous Retroviruses (HERV) are believed to be pathogenic in several autoimmune diseases. Among them, HERV-K viruses have been recently reported to be involved in the pathogenesis of rheumatoid arthritis (RA). In this study we have explored the role of humoral immune response against HERV-K as a potential pathogenetic mechanism in RA. Four different peptides from the extracellular portion of the env protein of HERV-K (env-su 19-37 , env-su 109-26 , env-su 164-186 , env-su 209-226 ) were selected by bioinformatic analysis on the basis of their putative immunogenicity...
March 21, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28324282/recurrent-bowel-blood-translocations-of-escherichia-coli-with-the-unique-virulence-characteristics-over-three-year-period-in-the-patient-with-acute-myeloid-leukaemia-case-report
#7
Beata Krawczyk, Anna Śledzińska, Agnieszka Piekarska, Andrzej Hellmann, Józef Kur
In patients with haematological malignancies, the bowel remains the main source of Escherichia coli bloodstream infections. We present the clinical example of recurrent bowel-blood translocations of E. coli with the unique virulence characteristics in a 55-year-old male with the diagnosis of acute myeloid leukaemia. The virulent factors profile of examined strains confirmed that the co-existence of genes papC, sfa, usp and cnf1, encoding virulence factors, predisposes E. coli to translocation from the gastrointestinal tract to the vascular bed...
March 21, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28324273/acute-pancreatitis-caused-by-mycoplasma-pneumoniae-an-unusual-etiology
#8
Teresa Valdés Lacasa, María Alejandra Duarte Borges, Alicia García Marín, Covadonga Gómez Cuervo
It is well known that the most important etiologies of acute pancreatitis are gallstones and alcohol consumption. Once these causes have been ruled out, especially in young adults, it is important to consider less frequent etiologic factors such as drugs, trauma, malformations, autoimmunity or systemic diseases. Other rare and less well studied causes of this pathology are infections, among which Mycoplasma pneumoniae has been reported to cause acute pancreatitis as an unusual extrapulmonary manifestation. Here, we report the case of a 21-year-old patient who had acute idiopathic pancreatitis associated with an upper respiratory tract infection...
March 21, 2017: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/28324243/fungal-keratitis-secondary-to-trametes-betulina-a-case-report-and-review-of-literature
#9
Joshua S Hardin, Deanna A Sutton, Nathan P Wiederhold, James Mele, Sunali Goyal
PURPOSE: We report the first case of human infection and keratitis secondary to Trametes betulina, a rare filamentous fungus. METHODS: Clinical examination including external and slit-lamp examination and corneal scrapings with microbiologic evaluation were performed on a patient with chronic allergic conjunctivitis, entropion and a long-standing corneal ulcer resistant to treatment. RESULTS: The culture from the corneal scraping revealed a basidiomycetous fungus which was submitted for identification...
March 21, 2017: Mycopathologia
https://www.readbyqxmd.com/read/28324131/case-report-fast-reversal-of-severe-osteoporosis-after-correction-of-excessive-levothyroxine-treatment-and-long-term-follow-up
#10
C M Laine, K Landin-Wilhelmsen
This case report describes a 38-year-old woman, who presented with bilateral femoral stress fractures and osteoporosis after years of excessive levothyroxine treatment. Her bone health was restored rapidly and long-lasting with the reduction of levothyroxine dosage. No bone-active treatment was warranted. INTRODUCTION: Hyperthyroidism is a known risk factor for osteoporosis and fractures. Recent studies on patients with serum thyrotropin-suppressive therapy have not, however, indicated adverse effects on bone during long-term follow-up...
March 21, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28324118/early-onset-polymyalgia-rheumatica-two-rare-cases-under-age-of-50
#11
Jinyoung Park, Duk Hyun Sung
Polymyalgia rheumatica (PMR) is almost an exclusive disease of adults over the age of 50, and only a few cases have been reported. Two 46-year-old females visited our locomotor pain clinic with multiple joint pain with increased acute phase reactants. Rheumatologic markers, and HLA-B27 were checked. Serum protein electrophoresis and serum immunofixation electrophoresis, imaging studies including plane image, sonography, and magnetic resonance image was done. (18)F-Fludeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT) showed characteristic findings of PMR, without evidences of sacroiliitis...
March 21, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28324114/novel-25-kb-deletion-of-mertk-causes-retinitis-pigmentosa-with-severe-progression
#12
Daniel R Evans, Jane S Green, Gordon J Johnson, Jeremy Schwartzentruber, Jacek Majewski, Chandree L Beaulieu, Wen Qin, Christian R Marshall, Tara A Paton, Nicole M Roslin, Andrew D Paterson, Somayyeh Fahiminiya, Justin French, Kym M Boycott, Michael O Woods
Purpose: Retinitis pigmentosa (RP) describes a complex group of inherited retinal dystrophies with almost 300 reported genes and loci. We investigated the genetic etiology of autosomal recessive RP (arRP) in a large kindred with 5 affected family members, who reside on the island of Newfoundland, Canada. Methods: Genetic linkage analysis was performed on 12 family members (Infinium HumanOmni2.5-8 BeadChip). Whole exome sequencing analysis (Illumina HiSeq) was performed on one affected individual...
March 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28323927/exome-sequencing-reveals-mutations-in-aire-as-a-cause-of-isolated-hypoparathyroidism
#13
Dong Li, Elizabeth A Streeten, Alice Chan, Wint Lwin, Lifeng Tian, Renata Pellegrino da Silva, Cecilia E Kim, Mark S Anderson, Hakon Hakonarson, Michael A Levine
Context: Most cases of autosomal recessive hypoparathyroidism (HYPO) are caused by loss-of-function mutations in GCM2 or PTH. Objective: To identify the underlying genetic basis for isolated HYPO in a kindred in which three of ten siblings were affected. Subjects: We studied the parents and the three adult affected subjects, each of whom was diagnosed with HYPO in the first decade of life. Methods: We collected clinical and biochemical data and performed whole exome sequencing (WES) analysis on DNA from the three affected subjects after negative genetic testing for known causes of HYPO...
February 21, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323835/molecular-epidemiology-of-cryptococcal-genotype-vnic-st5-in-siriraj-hospital-thailand
#14
Chanin Hatthakaroon, Sujiraphong Pharkjaksu, Piriyaporn Chongtrakool, Kamol Suwannakarn, Pattarachai Kiratisin, Popchai Ngamskulrungroj
Despite the strong association between Cryptococcus neoformans infection and the Human immunodeficiency virus (HIV) status of patients globally, most cryptococcosis cases in Far East Asia occur in non-HIV individuals. Molecular epidemiological studies, using multilocus sequence typing (MLST), have shown that more than 95% of cryptococcal strains belong to a specific subtype of VNI. However, this association has never been specifically examined in other parts of Asia. Therefore, in this study, we investigated the VNIc/ST5 genotype distribution among cryptococcosis patients in Thailand...
2017: PloS One
https://www.readbyqxmd.com/read/28323671/codeine-and-opioid-metabolism-implications-and-alternatives-for-pediatric-pain-management
#15
Vidya Chidambaran, Senthilkumar Sadhasivam, Mohamed Mahmoud
PURPOSE OF REVIEW: Use of perioperative opioids for surgical pain management of children presents clinical challenges because of concerns of serious adverse effects including life-threatening respiratory depression. This is especially true for children with history of obstructive sleep apnea. This review will explore current knowledge of clinically relevant factors and genetic polymorphisms that affect opioid metabolism and postoperative outcomes in children. RECENT FINDINGS: Within the past several years, an increasing number of case reports have illustrated clinically important respiratory depression, anoxic brain injuries and even death among children receiving appropriate weight-based dosages of codeine and other opioids for analgesia at home setting particularly following tonsillectomy...
March 18, 2017: Current Opinion in Anaesthesiology
https://www.readbyqxmd.com/read/28323660/impact-of-rare-variants-in-autosomal-dominant-hypercholesterolemia-causing-genes
#16
Sebastiano Calandra, Patrizia Tarugi, Stefano Bertolini
PURPOSE OF REVIEW: The systematic analysis of the major candidate genes in autosomal dominant hypercholesterolemia (ADH) and the use of next-generation sequencing (NGS) technology have made possible the discovery of several rare gene variants whose pathogenic effect in most cases remains poorly defined. RECENT FINDINGS: One major advance in the field has been the adoption of a set of international guidelines for the assignment of pathogenicity to low-density lipoprotein receptor (LDLR) gene variants based on the use of softwares, complemented with data available from literature and public databases...
March 18, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28323651/clinical-features-and-treatment-of-dermatofibrosarcoma-protuberans-affecting-the-vulva-a-literature-review
#17
Austin H Nguyen, Shannon Q Detty, Maria I Gonzaga, Christopher Huerter
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a low-to-intermediate grade cutaneous neoplasm with a low propensity for metastasis and a high rate of local recurrence. It typically presents as a dermal plaque or nodule on the trunk, limbs, or head and neck region. Vulvar DFSP has also been described, although it is less common. OBJECTIVE: To review the available literature and discuss the clinical course of DFSP affecting the vulva. MATERIALS AND METHODS: We reviewed the existing English-language literature on DFSP of the vulva with respect to clinical presentation, diagnosis, treatment, and outcome...
March 17, 2017: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/28323628/effects-of-bach-flower-remedies-on-menopausal-symptoms-and-sleep-pattern-a-case-report
#18
Marcele Siegler, Cristina Frange, Monica Levy Andersen, Sergio Tufik, Helena Hachul
Context • During the postmenopausal stage, women go through many remarkable changes, including physical, emotional, and hormonal. They also experience some unwanted effects, such as vasomotor symptoms, anxiety, and insomnia. The use of Bach flower remedies has been described as a supporting therapy for those symptoms. Objectives • The investigation aimed to evaluate the effects of the supplement on sleep pattern (ie, sleep perception and objective sleep) and on menopausal symptoms. Design • The research team created a case report...
March 2017: Alternative Therapies in Health and Medicine
https://www.readbyqxmd.com/read/28323505/pattern-of-uveitis-in-a-referral-hospital-in-bangladesh
#19
Zahedur Rahman, Ziaul Ahsan, Niaz Abdur Rahman, Parthopratim Dutta Majumder
PURPOSE: To report the pattern of uveitis in a tertiary eye care center in Bangladesh. METHODS: Retrospective analysis of all uveitis cases visiting uveitis clinic of Bangladesh Eye Hospital between January, 2009 and April, 2015. RESULTS: In total, 652 patients (mean age 32.3 years, female 47.8%) were included in the study. Uveitis was bilateral in 42.6% of cases. Anterior uveitis was the most common (39.2%) case, closely followed by intermediate uveitis (22...
March 21, 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/28320181/ataxic-form-of-autosomal-recessive-pex10-related-peroxisome-biogenesis-disorders-with-a-novel-compound-heterozygous-gene-mutation-and-characteristic-clinical-phenotype
#20
Toru Yamashita, Jun Mitsui, Nobuyuki Shimozawa, Shigeo Takashima, Hiroshi Umemura, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Takashi Matsukawa, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Koji Abe
Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of peroxisome biogenesis disorders, namely Zellweger syndrome (severe), neonatal adrenoleukodystrophy (moderate) and an ataxic form (mild). Here, we report 3 siblings of the ataxic form with cerebellar ataxia, mild mental retardation, and 3 additional characteristic features: mydriasis, hyperreflexia and involuntary head movement. All 3 siblings are compound heterozygous for a previously reported mutation, c...
April 15, 2017: Journal of the Neurological Sciences
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