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https://www.readbyqxmd.com/read/28623742/effect-of-intensive-ldl-cholesterol-lowering-with-pcsk9-monoclonal-antibodies-on-tendon-xanthoma-regression-in-familial-hypercholesterolemia
#1
Ana M Bea, Sofia Perez-Calahorra, Victoria Marco-Benedi, Itziar Lamiquiz-Moneo, Estibaliz Jarauta, Rocio Mateo-Gallego, Fernando Civeira
BACKGROUND AND AIMS: The effect of LDLc lowering with PCSK9 antibodies on tendon xanthomas (TX) is unknown. METHODS: TX was measured in 24 heterozygous familial hypercholesterolemia (HeFH) cases and in 24 HeFH controls with or without PCSK9 inhibitors for at least one year. RESULTS: Exposure to PCSK9 inhibitors in cases was 2.96 ± 1.33 years. LDLc decreased 80.8 ± 7.66% in cases and 56.9 ± 11.1% in controls. There was a decrease in maximum (-5...
June 8, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28623566/clinical-and-molecular-genetic-features-of-cerebrotendinous-xanthomatosis-patients-in-chinese-families
#2
Chen Chen, Yue Zhang, Hui Wu, Yi-Min Sun, Ye-Hua Cai, Jian-Jun Wu, Jian Wang, Ling-Yun Gong, Zheng-Tong Ding
Cerebrotendinous xanthomatosis (CTX) is a lipid-storage disease caused by mutations in CYP27A1. Current publications of Chinese CTX were mainly based on case reports. Here we investigated the clinical manifestations, genetic features in Chinese CTX patients. The clinical materials of 4 Chinese CTX pedigrees were collected. The genetic testing was done by polymerase chain reaction plus Sanger sequencing. The features of Chinese CTX patients reported previously were also reviewed. Three novel mutations of p.Arg513Cys, c...
June 17, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28621119/eruptive-xanthomas-and-pancretitis-clinical-dermatoscopy-confocal-and-pathological-correlation
#3
Rosita Saraceno, Annunziata Dattola, Lucia Pietroleonardo, Rossella Pitocco, Monika Fida, Sergio Chimenti
No abstract text is available yet for this article.
August 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28606368/xanthomas-and-atheromas
#4
EDITORIAL
Eric J Sijbrands
No abstract text is available yet for this article.
June 6, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28590052/clinical-report-a-patient-with-a-late-diagnosis-of-cerebrotendinous-xanthomatosis-and-a-response-to-treatment
#5
Ahmad Alhariri, Katherine Hamilton, Vikash Oza, Kelly Cordoro, Nara L Sobreira, Mary Malloy, Anne Slavotinek
Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn error of bile acid metabolism characterized by diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas developing in the second to third decades of life, and progressive neurologic dysfunction in adulthood. The condition is caused by mutations in the CYP27A1 gene that result in decreased production of chenodeoxycholic acid (CDCA) and elevated levels of cholestanol and bile alcohols. We present a 36-year-old male of Han ethnicity who developed xanthomas of his Achilles tendons and suffered neurocognitive declines and gait deterioration in his second decade...
June 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28576280/-familial-hypercholesterolemia-a-largely-underestimated-cardiovascular-risk
#6
J Ferrières, É Bruckert, S Béliard, J-P Rabès, M Farnier, M Krempf, B Cariou, N Danchin
BACKGROUND: Familial hypercholesterolemia is a monogenic autosomal dominant dyslipidemia characterized by a permanent and isolated increase of cholesterol carried by low-density lipoproteins. The prevalence of its heterozygous form is estimated between 1/500 and 1/250, and in the absence of specific treatment, this form is responsible for an increase by a factor of 13 of the risk of premature coronary artery disease compared to patients non-affected by the disease. OBJECTIVES: To perform an inventory of the knowledge of heterozygous familial hypercholesterolemia in France for physicians involved in the management of the disease...
May 30, 2017: Annales de Cardiologie et D'angéiologie
https://www.readbyqxmd.com/read/28566919/xanthoma-striatum-palmare-in-a-patient-of-primary-biliary-cirrhosis-with-autoimmune-hepatitis
#7
Min-Young Yang, Jeong-Min Kim, Gun-Wook Kim, Hoon-Soo Kim, Byung-Soo Kim, Moon-Bum Kim, Hyun-Chang Ko
No abstract text is available yet for this article.
June 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/28544144/cladribine-is-a-promising-therapy-for-xanthoma-disseminatum
#8
E Adışen, P Aladağ, E Özlem, M A Gürer
No abstract text is available yet for this article.
May 22, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28529016/eruptive-xanthomas-in-lipoprotein-lipase-deficiency
#9
Paola Sabrina Buonuomo, Monica Malamisura, Marina Macchiaiolo, Ippolita Rana, Michaela Veronika Gonfiantini, Gerarda Mastrogiorgio, Andrea Bartuli
No abstract text is available yet for this article.
May 18, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28523884/xanthoma-disseminatum-in-a-young-patient-with-diabetes-insipidus
#10
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
#11
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...
July 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28516251/-severe-hypertriglyceridemia-diagnostics-and-new-treatment-principles
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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