نتایج جستجو برای: monilia laxa

تعداد نتایج: 831  

عبدی, علی‌اکبر ,

ABSTRACT Cutis laxa is a congenital disorder transmitted as autosomal ressesive and dominate trait. This disorder has an acquired form that develops after febrile illness or skin inflammatory fisease. A 5 month old girl with generalized loose skin and these facial features including a hooked nose with everted nosetrils, long filtrom, high arch palate, wide fontanels, hypertelorism, e...

2016
Rie Harboe Nygaard Scott Maynard Peter Schjerling Michael Kjaer Klaus Qvortrup Vilhelm A. Bohr Lene J. Rasmussen Gregor B.E. Jemec Michael Heidenheim

Cutis laxa is a rare disease characterized by abnormal skin wrinkling and laxity, due to decreased elastin synthesis or structural extracellular matrix defects. We have explored elastin metabolism in a case of adult onset cutis laxa localized to the upper body of a woman. For this purpose, we obtained skin biopsies from affected and unaffected skin areas of the patient and analyzed these with m...

2013
Sanjoy Gupta Soneswar Sarma A. A. Mao Tapan Seal

Lysimachia laxa is a perennial herb belonging to the family Primulaceae and Gymnocladus assamicus is a critically endangered species of the family Caesalpinioideae contain biologically active substances. The present investigation deals with the evaluation of antioxidant activity of the different parts of these two plants and to determine the best solvent for extracting the antioxidant component...

Journal: :Journal of Experimental and Clinical Medicine 2011

Journal: :Archives of dermatology 2011
H Douglas New Jeffrey P Callen

BACKGROUND Cutis laxa is a rare dermatosis that can be inherited or acquired. The acquired form is rare and has been associated with various conditions, including multiple myeloma, monoclonal gammopathy of undetermined significance, and heavy chain deposition disease. OBSERVATIONS We describe a 48-year-old man who developed generalized cutis laxa over a 4-year duration. There were no precedin...

Journal: :American journal of human genetics 2015
Björn Fischer-Zirnsak Nathalie Escande-Beillard Jaya Ganesh Yu Xuan Tan Mohammed Al Bughaili Angela E Lin Inderneel Sahai Paulina Bahena Sara L Reichert Abigail Loh Graham D Wright Jaron Liu Elisa Rahikkala Eniko K Pivnick Asim F Choudhri Ulrike Krüger Tomasz Zemojtel Conny van Ravenswaaij-Arts Roya Mostafavi Irene Stolte-Dijkstra Sofie Symoens Leila Pajunen Lihadh Al-Gazali David Meierhofer Peter N Robinson Stefan Mundlos Camilo E Villarroel Peter Byers Amira Masri Stephen P Robertson Ulrike Schwarze Bert Callewaert Bruno Reversade Uwe Kornak

Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), respectively, which both operate in the mitochondrial proline cycle. We report here on eight unrelated individ...

2014
Beth A. Kozel Chi-Ting Su Joshua R. Danback Ryan L. Minster Suneeta Madan-Khetarpal Juliann McConnell Meghan K. Mac Neal Kara L. Levine Robert C. Wilson Frank C. Sciurba Zsolt Urban

Cutis laxa (CL) is a heterogeneous group of disorders characterized by loose, redundant, inelastic or prematurely wrinkled skin (Berk et al., 2012; Uitto et al., 2013). Several inherited forms of CL have been identified (Urban and Davis, 2013), with 9 causative genes known to date (ALDH18A1, ATP6V0A2, ATP7A, EFEMP2/FBLN4, ELN, FBLN5, LTBP4, PYCR1, RIN2). A shared feature of all types of inherit...

مقدمه: گروه‏ها‏ی متنوعی از قارچ‏ها‏ی میکروسکوپی قادرند بافت‏ها‏ی پلیمری گیاهی مانند پکتین را تجزیه کنند. بیش‏ترین کاربرد تجزیه این مواد در صنایع تولید مواد غذایی است. مواد و روش‏ها‏: در مطالعه حاضر، قارچ مولد اگزوپکتیناز از نارنگی در حال فساد جداسازی شد و خصوصیت اگزوپکتینازی آن در شرایط تخمیری غوطه‏ور بررسی شد. همچنین، تولید آنزیم قارچ جداسازی شده با قارچ صنعتی PTCC 5013 Aspergillus niger مقایس...

2013
Fernanda Guedes Lavorato Maria de Fátima Guimarães Scotelaro Alves Juan Manuel Piñeiro Maceira Natasha Unterstell Laura Araújo Serpa Luna Azulay-Abulafia

A 57-year-old woman presented with periorbital ecchymoses, laxity in skin folds, polyneuropathy and bilateral carpal tunnel syndrome. A skin biopsy of the axillary lesion demonstrated fragmentation of elastic fibers, but with a negative von Kossa stain, consistent with cutis laxa. The diagnosis of primary systemic amyloidosis was made by the presence of amyloid material in the eyelid using hist...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید