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53.
Epidermodysplasia Verruciformis in Lipoid Proteinosis: Case Report and Discussion of Pathophysiology
Catherine O'Blenes M.D. Ph.D. Sylvia Pasternak M.D. Andrew Issekutz M.D. Jane Gillis M.D. M.Sc. Dhiman Chowdhury M.B.B.S. Laura Finlayson M.D. 《Pediatric dermatology》2015,32(1):118-121
Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis caused by mutations in extracellular matrix protein 1 (ECM1) that involves deposition of basement membrane–like material in the skin and other organs. Epidermodysplasia verruciformis (EV) is also a rare autosomal recessive genodermatosis involving susceptibility to human papillomavirus (HPV) infections and squamous cell carcinoma, caused in most cases by homozygous mutations in EVER1 or EVER2. We describe a case of EV in a patient with LP and discuss the pathophysiology. A 3‐year‐old Lebanese girl presented with hoarseness, beaded papules along the eyelid margins, waxy papules and plaques on her head and neck, and lichenoid verrucous papules on the forearms and hands. Histopathology of the waxy papules exhibited deposition of periodic acid Schiff–positive basement membrane–like material in the superficial dermis, characteristic of LP. The verruca plana–like lesions exhibited acanthosis and enlarged keratinocytes with pale blue‐grey cytoplasm and a perinuclear halo, consistent with verrucae and EV. Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. The homozygous point mutation c.389C>T in ECM1 may be a novel mutation causing LP. Verruca plana–like lesions seen in LP appear to represent a form of acquired EV. In this patient, a heterozygous mutation in EVER2 at c.917 A>T may also have conferred susceptibility to HPV infection. 相似文献
54.
Surgical stress and cytoskeletal changes in lens epithelial cells following manual and femtosecond laser-assisted capsulotomy 下载免费PDF全文
Andrea Krisztina Sükos Krisztina Szabadfi Edina Szabó-Meleg Beáta Gáspár Pavel Stodulk Gyorgy Sétáló Jr Róbert Gábriel Miklós Nyitrai Zsolt Biró Hajnalka Abrahám 《国际眼科》2020,13(6):927-934
AIM: To study the effect of mechanical stress on the cytoskeleton in lens epithelial cells following conventional phacoemulsification surgery (CPS) and femtosecond laser-assisted cataract surgery (FLACS).
METHODS: The cytoskeleton of the epithelial cells of the anterior lens capsules (ALC) removed by CPS and FLACS was examined by immunohistochemistry. Expression of the intermediate filament, glial fibrillary acidic protein (GFAP), and glutamine synthetase (GS) immunoreactivity were detected. In order to map the actin network of cells, fluorescently labeled phalloidin was used. The samples were examined using confocal laser scanning microscopy.
RESULTS: GFAP expression was visible in a larger number of the epithelial cells after CPS compared to FLACS. In CPS sample’s epithelial cells, GFAP immunoreactivity indicated robust morphological change. Regarding the actin filaments, the presence of tubular elements connecting epithelial cells, regular actin pattern and marked cortical network after CPS were found. Following FLACS, the actin cytoskeleton of the epithelial cells remained densely structured, and the tubular elements were undetectable, however, the above-mentioned regular actin pattern and the marked cortical network were visible.
CONCLUSION: The conventional removal of the ALC induces more robust changes of the cytoskeleton of the lens epithelial cells. 相似文献
55.
Neelam Dhiman Deborah J. JespersenLeonard O. Rollins Julie A. HarringElaine M. Beito Matthew J. Binnicker 《Diagnostic microbiology and infectious disease》2010
Serologic testing for measles, mumps, rubella, and varicella (MMRV) IgG is traditionally performed by immunofluorescence assay or enzyme immunoassay (EIA). Although sensitive and specific, these methods are labor intensive, time consuming, and require separate assays for each analyte. This study evaluated the performance of the MMRV IgG AtheNA Multi-Lyte® assay using nonclinically characterized serum specimens submitted to our laboratory for routine MMRV IgG testing. Mumps (n = 492) or rubella (n = 500) IgG were initially tested by enzyme-linked fluorescent antibody (ELFA), whereas measles (n = 494) or varicella (n = 497) were analyzed by EIA. Each sample was also tested by the AtheNA Multi-Lyte assay. Discordant results were retested by the predicate method and the multiplex assay, with further discrepancies being arbitrated by a third test. Compared to EIA/ELFA for MMRV IgG, the AtheNA assay demonstrated an overall agreement of 97.4%, 98.2%, 97.6%, and 100%, respectively. Use of this multiplex assay allows for the simultaneous detection of MMRV IgG, potentially decreasing cost, sample volume requirements, aliquot errors, and hands-on testing time. 相似文献
56.
Ramesh C. Dhiman Sharmila Pahwa G. P. S. Dhillon Aditya P. Dash 《Parasitology research》2010,106(4):763-773
It is unequivocal that climate change is happening and is likely to expand the geographical distribution of several vector-borne diseases, including malaria and dengue etc. to higher altitudes and latitudes. India is endemic for six major vector-borne diseases (VBD) namely malaria, dengue, chikungunya, filariasis, Japanese encephalitis and visceral leishmaniasis. Over the years, there has been reduction in the incidence of almost all the diseases except chikungunya which has re-emerged since 2005. The upcoming issue of climate change has surfaced as a new threat and challenge for ongoing efforts to contain vector-borne diseases. There is greater awareness about the potential impacts of climate change on VBDs in India and research institutions and national authorities have initiated actions to assess the impacts. Studies undertaken in India on malaria in the context of climate change impact reveal that transmission windows in Punjab, Haryana, Jammu and Kashmir and north-eastern states are likely to extend temporally by 2–3 months and in Orissa, Andhra Pradesh and Tamil Nadu there may be reduction in transmission windows. Using PRECIS model (driven by HadRM2) at the resolution of 50 × 50 Km for daily temperature and relative humidity for year 2050, it was found that Orissa, West Bengal and southern parts of Assam will still remain malarious and transmission windows will open up in Himachal Pradesh and north-eastern states etc. Impact of climate change on dengue also reveals increase in transmission with 2 C rise in temperature in northern India. Re-emergence of kala-azar in northern parts of India and reappearance of chikungunya mainly in southern states of India has also been discussed. The possible need to address the threat and efforts made in India have also been highlighted. The paper concludes with a positive lead that with better preparedness threat of climate change on vector-borne diseases may be negated. 相似文献
57.
Ipshita Gupta Xiaoqian Su Umesh Sai Jonnalagadda Dhiman Das Manojit Pramanik James J. Kwan 《Ultrasound in medicine & biology》2021,47(7):1844-1856
Polymer nanoparticles and microparticles have been used primarily for drug delivery. There is now growing interest in further developing polymer-based solid cavitation agents to also enhance ultrasound imaging. We previously reported on a facile method to produce hollow poly(lactic-co-glycolic acid) (PLGA) microparticles with different diameters and degrees of porosity. Here, we investigate the cavitation response from these PLGA microparticles with both therapeutic and diagnostic ultrasound transducers. Interestingly, all formulations exhibited stable cavitation; larger porous and multicavity particles also provided inertial cavitation at elevated acoustic pressure amplitudes. These larger particles also achieved contrast enhancement comparable to that of commercially available ultrasound contrast agents, with a maximum recorded contrast-to-tissue ratio of 28 dB. Therefore, we found that multicavity PLGA microparticles respond to both therapeutic and diagnostic ultrasound and may be applied as a theranostic agent. 相似文献
58.
Munish B. Shah Wei Chang Xiaojun Yu 《中国神经再生研究》2014,9(22):1959-1960
<正>The peripheral nervous system(PNS)is composed of the nerves and ganglia outside of the brain and spinal cord whose primary function is to connect the central nervous system to the limbs and organs.A peripheral nerve injury(PNI)is damage to the nerves and/or its surrounding tissue.These injuries can affect up to 5%of patients that are hospi- 相似文献
59.
The rapid introduction of Internet of Things (IoT) Technology has boosted the service deliverance aspects of health sector in terms of m-health, and remote patient monitoring. IoT Technology is not only capable of sensing the acute details of sensitive events from wider perspectives, but it also provides a means to deliver services in time sensitive and efficient manner. Henceforth, IoT Technology has been efficiently adopted in different fields of the healthcare domain. In this paper, a framework for IoT based patient monitoring in Intensive Care Unit (ICU) is presented to enhance the deliverance of curative services. Though ICUs remained a center of attraction for high quality care among researchers, still number of studies have depicted the vulnerability to a patient’s life during ICU stay. The work presented in this study addresses such concerns in terms of efficient monitoring of various events (and anomalies) with temporal associations, followed by time sensitive alert generation procedure. In order to validate the system, it was deployed in 3 ICU room facilities for 30 days in which nearly 81 patients were monitored during their ICU stay. The results obtained after implementation depicts that IoT equipped ICUs are more efficient in monitoring sensitive events as compared to manual monitoring and traditional Tele-ICU monitoring. Moreover, the adopted methodology for alert generation with information presentation further enhances the utility of the system. 相似文献