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https://www.readbyqxmd.com/read/28523884/xanthoma-disseminatum-in-a-young-patient-with-diabetes-insipidus
#1
Yun Hui, Cheng-Zhen Zhang, Jun Chen, Qing-Tao Kong, Huan Chen, Xue Du, Hong Sang
Xanthoma disseminatum (XD) is a nonfamilial type of normolipidemic mucocutaneous xanthomatosis that belongs to the group of non-Langerhans cell histiocytoses. More than 100 cases of XD have been reported. In this study we report a case of XD in a 4-year-old boy with diabetes insipidus (DI). This boy is one of the youngest patients ever to present with XD combined with DI.
May 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28521186/timely-diagnosis-of-sitosterolemia-by-next-generation-sequencing-in-two-children-with-severe-hypercholesterolemia
#2
Paola Sabrina Buonuomo, Lorenzo Iughetti, Livia Pisciotta, Claudio Rabacchi, Francesco Papadia, Patrizia Bruzzi, Albina Tummolo, Andrea Bartuli, Claudio Cortese, Stefano Bertolini, Sebastiano Calandra
BACKGROUND AND AIMS: Severe hypercholesterolemia associated or not with xanthomas in a child may suggest the diagnosis of homozygous autosomal dominant hypercholesterolemia (ADH), autosomal recessive hypercholesterolemia (ARH) or sitosterolemia, depending on the transmission of hypercholesterolemia in the patient's family. Sitosterolemia is a recessive disorder characterized by high plasma levels of cholesterol and plant sterols due to mutations in the ABCG5 or the ABCG8 gene, leading to a loss of function of the ATP-binding cassette (ABC) heterodimer transporter G5-G8...
May 4, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28516251/-severe-hypertriglyceridemia-diagnostics-and-new-treatment-principles
#3
U Kassner, M Dippel, E Steinhagen-Thiessen
Severe hypertriglyceridemia is defined at a plasma triglyceride (TG) concentration of >885 mg/dl and may result - in particular when clinical symptoms appear before the age of 40 - from "large variant" mutations in genes which influence the function of the lipoprotein lipase (LPL). For diagnosis, secondary factors have to be excluded and treated before further genetic tests are considered. Typical symptoms in almost all patients are recurrent, sometimes severe abdominal pain attacks, which can result in acute pancreatitis, the most important, sometimes life-threatening complication...
May 17, 2017: Der Internist
https://www.readbyqxmd.com/read/28500693/the-clinical-spectrum-of-xanthomatous-lesions-of-the-eyelids
#4
REVIEW
Can Baykal, Algun Polat Ekinci, Kurtulus D Yazganoglu, Nesimi Buyukbabani
Yellowish papules, nodules, or plaques, namely "xanthomatous" lesions, may be seen on the eyelids in the course of various disorders. The prototype is "xanthelasma palpebrarum" (XP) that is localized only to the eyelids and may be associated with hyperlipidemia. On the other hand, different types of normolipemic disorders may also cause xanthomatous eyelid lesions. Among these, Langerhans cell histiocytosis, diffuse normolipemic xanthoma, and non-Langerhans cell histiocytoses (papular xanthoma, juvenile xanthogranuloma, xanthoma disseminatum, adult-onset xanthogranuloma, adult-onset asthma and periocular xanthogranuloma, necrobiotic xanthogranuloma, Erdheim-Chester disease, Rosai-Dorfman disease, and reticulohistiocytosis) can be listed...
May 13, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28499609/achilles-tendon-xanthomas-are-associated-with-the-presence-and-burden-of-subclinical-coronary-atherosclerosis-in-heterozygous-familial-hypercholesterolemia-a-pilot-study
#5
Leonardo C Mangili, Marcio H Miname, Pamela R S Silva, Marcio S Bittencourt, Viviane Z Rocha, Otavio C Mangili, Wilson Salgado Filho, Ana P Chacra, Cinthia E Jannes, Alexandre C Pereira, Raul D Santos
BACKGROUND AND AIMS: Achilles tendon xanthomas (ATX) are a sign of long-term exposure to high blood cholesterol in familial hypercholesterolemia (FH) patients, which have been associated with cardiovascular disease. We evaluated the ATX association with the presence and extent of subclinical coronary atherosclerosis in heterozygous FH patients. METHODS: 102 FH patients diagnosed by US-MEDPED criteria (67% with genetically proven FH), with median LDL-C 279 mg/dL (interquartile range: 240; 313), asymptomatic for cardiovascular disease, underwent computed tomography angiography and coronary artery calcium (CAC) quantification...
April 30, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28492167/management-of-cholestatic-pruritus-in-children-with-alagille-syndrome-case-report-and-literature-review
#6
S Ben Ameur, I Chabchoub, J Telmoudi, Y Belfitouri, O Rebah, F Lacaille, H Aloulou, A Mehrzi, M Hachicha
Alagille syndrome causes intractable pruritus and disfiguring xanthomas because of retained bile acids and cholesterol. Drug therapy in addition to surgical intervention may be effective in many patients in reducing serum bile acids, cholesterol levels, pruritus, and skin xanthomas. In this report, we describe a child with Alagille syndrome who presented with severe pruritus and xanthomas as a consequence of severe hypercholesterolemia and discuss the treatment modalities.
December 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28487782/nodular-esophageal-xanthoma-a-case-report-and-review-of-the-literature
#7
Ahmed Dirweesh, Muhammad Khan, Sumera Bukhari, Cheryl Rimmer, Robert Shmuts
Xanthomas are localized nonneoplastic lesions within tissues that may manifest as papules, plaques, or nodules. These lesions can be found anywhere along the gastrointestinal tract, commonly in the stomach and colon, and rarely in the small intestine and esophagus. Esophagogastroduodenoscopy (EGD) with biopsy is the gold standard tool for diagnosis. Here, we report a rare case of a lower solitary nodular esophageal xanthoma in an elderly black female. Correspondingly, all cases of esophageal xanthomas reported in the English medical literature were reviewed and presented with the reported case...
2017: Case Reports in Gastrointestinal Medicine
https://www.readbyqxmd.com/read/28476588/ultrasonography-as-a-diagnostic-and-monitoring-tool-for-the-tendon-xanthomas-in-familial-hypercholesterolemia
#8
Delia Reina, Carlos Jericó, Paula Estrada, Vanesa Navarro, Vicenç Torrente, Pedro Armario, Hèctor Corominas
No abstract text is available yet for this article.
May 2, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/28426893/diffuse-normolipemic-plane-xanthoma-on-striae
#9
C Baykal, Z Yılmaz, N Büyükbabani
Diffuse normolipemic plane xanthoma (DNPX) is a rare skin disorder characterized by the presence of symmetric, asymptomatic, flat, yellow plaques of different size.(1) As it is commonly located on the eyelids, xanthelesma may be a differential diagnostic consideration, but the lesions of DNPX are usually larger and other parts of the face, neck, flexural folds and trunk may also be involved.(1) This article is protected by copyright. All rights reserved.
April 20, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28405562/extensive-giant-tuberous-xanthomas-in-a-12-year-old-boy
#10
Rita V Vora, RahulKrishna S Kota, Nishit K Surti, Rochit R Singhal
No abstract text is available yet for this article.
March 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28401671/a-case-of-xanthoma-disseminatum-treated-with-imatinib-mesylate
#11
Gitesh U Sawatkar, Keshavamurthy Vinay, Pankaj Malhotra, Uma Nahar Saikia, Sunil Dogra
No abstract text is available yet for this article.
April 12, 2017: Dermatologic Therapy
https://www.readbyqxmd.com/read/28398921/hemosiderotic-juvenile-xanthogranuloma
#12
Angel Fernandez-Flores, Ina Nicklaus, Fiona Browne, Isabel Colmenero
Juvenile xanthogranuloma is a non-Langerhans cell lesion mostly limited to the skin but occasionally presenting in extracutaneous locations or associated with systemic conditions. Lesions need to be distinguished mainly from dermatofibroma, xanthoma, Langerhans cell histiocytosis, or reticulohistiocytoma. Herein, we present a hemosiderotic variant of juvenile xanthogranuloma in a 12-year-old girl, which we have not found described in literature. The lesion presented at the back of the scalp as a slowly growing yellowish polypoid lesion showing occasional bleeding...
March 16, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28391876/lipoprotein-x-in-cholestatic-patients-causes-xanthomas-and-promotes-foam-cell-formation-in-human-macrophages
#13
Luka Suzuki, Satoshi Hirayama, Mariko Fukui, Makoto Sasaki, Sadayuki Hiroi, Makoto Ayaori, Shuji Terai, Minoru Tozuka, Hirotaka Watada, Takashi Miida
BACKGROUND: Lipoprotein-X (Lp-X) is an abnormal phospholipid-rich lipoprotein found in patients with cholestatic liver disease. Some patients exhibit skin xanthomas and severe hyperlipidemia. OBJECTIVE: We investigated whether Lp-X induces foam cell formation in human-derived macrophages. METHODS: To compare the atherogenic properties of Lp-X and modified LDL, we isolated Lp-X from 2 patients who had drug-induced cholestasis and xanthoma striata in the interphalangeal folds...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28379347/large-multiple-tuberous-xanthomas-presenting-with-severe-coronary-artery-disease
#14
Arun Maskey, Anish Hirachan, Dharmanath Yadav, Madhu Roka
No abstract text is available yet for this article.
March 31, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28374274/bilateral-extensive-nodular-xanthelasma-palpebrarum-an-infrequent-case-report
#15
Pei Wang, Qingli Luo, Li Tang
PURPOSE: To report a rare case of extensive bilateral xanthelasma palpebrarum (XP). A 70-year-old man presented with nodular lesions of his eyelids for 12 years. The skin changes began with his left lower eyelid and progressively spread to both lateral-inferior and infero-medial periorbital areas. The lesions were yellow nodules that were hard, extensive, multiple and coalescent. METHOD: The tumors of this patient's eyelids underwent resection and tissue was processed for light microscopic examination...
April 3, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28340211/familial-hypercholesterolemia-xanthelesma-arcus-corneae-tendon-xanthomas
#16
A K Pannu, N Sharma
No abstract text is available yet for this article.
March 11, 2017: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/28290861/-histochemistry-of-coronary-arteries-in-myocardial-infarction
#17
E I Sokolov, S S Golubev, K A Abrosimova
In this study we used the samples of autopsy material from 15 patients who died of myocardial infarction. As control we used autopsy material from 5 victims of car accidents. Quantitative comparison of area of coronary arteries of healthy persons and patients with myocardial infarction revealed its decrease in patients with myocardial infarction. In ischemic heart disease patients there were many "xanthoma cells" forming the basis net filled with glycoproteins. Thickening of intima in patients with ischemic heart disease was due to increased quantity of glycosoaminoglycans and glycoproteins...
September 2016: Kardiologiia
https://www.readbyqxmd.com/read/28271939/bilateral-achilles-tendon-xanthomas-in-a-patient-with-cerebrotendinous-xanthomatosisa-case-report
#18
Mustafa Karakaplan, Emre Ergen, Gökay Görmeli, Mehmet Fatih Korkmaz, Nurzat Elmalı
Cerebrotendinous xanthomatosis is a rare, autosomal recessive, lipid storage disease with accumulation of cholestanol in most tissues, particularly in the Achilles tendons. We described a 23-year-old female patient who had progressive painfull swelling of both Achilles tendons due to cerebrotendinous xanthomatosis. We performed surgery on both-side Achilles tendon tumors. Wide degenerative areas of the tendons were resected, and the flexor hallucis longus tendon was harvested and transferred to reconstruct motion function...
January 2017: Journal of the American Podiatric Medical Association
https://www.readbyqxmd.com/read/28250352/frequency-of-achilles-tendon-xanthoma-in-patients-with-acute-coronary-syndrome
#19
Taro Harada, Kyoko Inagaki-Tanimura, Mototsugu Nagao, Yuki Sato, Mariko Sudo, Fumitaka Okajima, Hitoshi Sugihara, Shinichi Oikawa
AIM: We studied the frequency of Achilles tendon xanthoma (ATX) in patients with acute coronary syndrome (ACS). Furthermore, we investigated the differences in clinical findings between ACS patients with and without ATX. METHODS: Patients with ACS (n=335) were admitted to the coronary care unit of Nippon Medical School between July 2011 and December 2014. Informed consent for the measurement of Achilles tendon thickness (ATT) on a radiograph was obtained from 228 patients without tendon rupture...
March 2, 2017: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/28242176/2017-taiwan-lipid-guidelines-for-high-risk-patients
#20
REVIEW
Yi-Heng Li, Kwo-Chang Ueng, Jiann-Shing Jeng, Min-Ji Charng, Tsung-Hsien Lin, Kuo-Liong Chien, Chih-Yuan Wang, Ting-Hsing Chao, Ping-Yen Liu, Cheng-Huang Su, Shih-Chieh Chien, Chia-Wei Liou, Sung-Chun Tang, Chun-Chuan Lee, Tse-Ya Yu, Jaw-Wen Chen, Chau-Chung Wu, Hung-I Yeh
In Taiwan, the prevalence of hyperlipidemia increased due to lifestyle and dietary habit changes. Low density lipoprotein cholesterol (LDL-C) and non-high density lipoprotein cholesterol (non-HDL-C) are all significant predicting factors of coronary artery disease in Taiwan. We recognized that lipid control is especially important in patients with existed atherosclerotic cardiovascular diseases (ASCVD), including coronary artery disease (CAD), ischemic stroke and peripheral arterial disease (PAD). Because the risk of ASCVD is high in patients with diabetes mellitus (DM), chronic kidney disease (CKD) and familial hypercholesterolemia (FH), lipid control is also necessary in these patients...
February 24, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
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