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https://www.readbyqxmd.com/read/28340211/familial-hypercholesterolemia-xanthelesma-arcus-corneae-tendon-xanthomas
#1
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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28235710/the-genetic-spectrum-of-familial-hypercholesterolemia-in-the-central-south-region-of-china
#6
Rong Xiang, Liang-Liang Fan, Min-Jie Lin, Jing-Jing Li, Xiang-Yu Shi, Jie-Yuan Jin, Yu-Xing Liu, Ya-Qin Chen, Kun Xia, Shui-Ping Zhao
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is the most common and severe autosomal dominant lipid metabolism dysfunction, which causes xanthoma, atherosclerosis and coronary heart disease. Earlier studies showed that mutations in LDLR, APOB and PCSK9 cause FH. Although more than 75% of the population in Europe has been scrutinized for FH-causing mutations, the genetic diagnosis proportion among Chinese people remains very low (less than 0.5%). The aim of this study was to perform a survey and mutation detection among the Chinese population...
March 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28229379/a-novel-frameshift-mutation-in-the-sterol-27-hydroxylase-gene-in-an-egyptian-family-with-cerebrotendinous-xanthomatosis-without-cataract
#7
Mohamed S Abdel-Hamid, Mahmoud Y Issa, Ghada A Otaify, Maha S Zaki
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. CTX is characterized by tendon xanthomas, juvenile cataracts and multiple progressive neurological symptoms. Here we report on the clinical and molecular findings of a 35-years old Egyptian patient with CTX without cataract. Parents were first cousins with family history of two deceased sibs with mild impaired cognitive functions and epilepsy without appearance of tendon xanthomas...
April 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28220743/analysis-of-mutations-causing-familial-hypercholesterolaemia-in-black-south-african-patients-of-different-ancestr
#8
U K Ibe, R Whittall, S E Humphries, G Pilcher, F Raal
BACKGROUND: Familial hypercholesterolaemia (FH) is usually caused by mutations in three genes (LDLR, APOB and PCSK9). OBJECTIVE: To identify the spectrum of FH-causing mutations in black South African (SA) patients. METHODS: DNA samples of 16 unrelated South African FH patients with elevated low-density lipoprotein cholesterol levels, tendon xanthomas and corneal arcus (3 clinically homozygous FH and 13 heterozygous FH) of ethnic African origin were screened for mutations in the LDLR (coding region, promoter and intron/exon boundaries), APOB (part of exon 26) and PCSK9 genes (exon 7), using high-resolution melting...
January 30, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28215937/long-term-treatment-with-evolocumab-added-to-conventional-drug-therapy-with-or-without-apheresis-in-patients-with-homozygous-familial-hypercholesterolaemia-an-interim-subset-analysis-of-the-open-label-taussig-study
#9
Frederick J Raal, G Kees Hovingh, Dirk Blom, Raul D Santos, Mariko Harada-Shiba, Eric Bruckert, Patrick Couture, Handrean Soran, Gerald F Watts, Christopher Kurtz, Narimon Honarpour, Lihua Tang, Sree Kasichayanula, Scott M Wasserman, Evan A Stein
BACKGROUND: Homozygous familial hypercholesterolaemia is a genetic disorder characterised by substantially raised LDL cholesterol, reduced LDL receptor function, xanthomas, and cardiovascular disease before age 20 years. Conventional therapy is with statins, ezetimibe, and apheresis. We aimed to assess the long-term safety and efficacy of the proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor evolocumab in a subset of patients with homozygous familial hypercholesterolaemia enrolled in an open-label, non-randomised phase 3 trial...
February 16, 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/28209012/a-case-of-verruciform-xanthoma-arising-in-the-tongue
#10
Yukihiro Hiraishi, Itaru Tojyo, Norifumi Kiga, Koji Tanimoto, Shigeyuki Fujita
Verruciform Xanthoma (VX) is a rare lesion of the oral cavity. Histologically, it is characterized by papillary or verrucous proliferation of squamous epithelium and numerous foam cells. VX arising in the tongue is comparatively rare, as most cases of VX in oral cavity occur in gingiva. A 65-year-old woman was referred to our clinic with a mass on the left side of the tongue. The lesion was yellowish, and its surface was granulated. The patient had neither tenderness nor any symptoms. The lesion was clinically diagnosed to be a benign tumor, and hence, biopsy was performed, according to which it was diagnosed as hyperparakeratosis...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28203044/a-case-of-sitosterolemia-due-to-compound-heterozygous-mutations-in-abcg5-clinical-features-and-treatment-outcomes-obtained-with-colestimide-and-ezetimibe
#11
Sahoko Ono, Junko Matsuda, Aki Saito, Takenobu Yamamoto, Wataru Fujimoto, Hitomi Shimizu, Sumito Dateki, Kazunobu Ouchi
Sitosterolemia is a rare, autosomal recessively inherited disorder of lipid metabolism caused by mutations in the "ATP-binding cassette, subfamily G" member 5 and 8 proteins (encoded by the ABCG5 and ABCG8 genes, respectively), which play critical roles in the intestinal and biliary excretion of plant sterols. We report the clinical features and treatment outcomes of an 18-month-old Japanese girl with sitosterolemia, who presented with multiple linear and intertriginous xanthomas around the joint areas. Serum lipid analyses revealed elevated levels of total cholesterol (T-Chol: 866 mg/dL), low density lipoprotein-cholesterol (LDL-C: 679 mg/dL), and plant sterols (sitosterol: 24...
January 2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28197037/urinary-bladder-xanthomatous-cystitis
#12
Shrenik J Shah, Vineet Ajitsaria, Vineet Singh
Xanthoma cystitis of urinary bladder is a rare entity and may present as an intravesical mass. A 38-year-old female presented with abdominal pain and imaging was done which was suggestive of a malignant mass with surrounding tissue infiltration. Partial cystectomy was performed, and histological examination of the mass showed xanthomatous cystitis.
January 2017: Indian Journal of Urology: IJU: Journal of the Urological Society of India
https://www.readbyqxmd.com/read/28195266/splenic-histiocyte-rich-pseudotumor-following-chemotherapy-for-non-hodgkin-diffuse-large-b-cell-lymphoma
#13
A G Abdou, M Kandil, M S Eldien, R Abdallah
Chemotherapy may induce mass lesion in rare conditions, which can be easily mistaken as a residual tumor mass. In this report, we describe a mass affecting spleen in a patient received chemotherapy for non Hodgkin diffuse large B cell lymphoma. This mass proved histologically to be non neoplastic formed of sheets of histiocytes and xanthoma cells, which is called histiocyte-rich pseudotumor. This report describes this rare lesion and the possible differential diagnosis.
September 2016: Pathologica
https://www.readbyqxmd.com/read/28185417/left-main-coronary-angioplasty-of-a-9-year-old-child-with-bioresorable-vascular-scaffold
#14
Hasmukh Ravat, Swati Garekar, Vishal Changela
Familial hypercholesterolemia is an autosomal dominant disorder due to mutations in the low-density lipoprotein receptor gene, characterized by skin and tendon xanthomas, xanthelasmas, and increased risk of premature coronary artery disease. Here, we report a case of 9-year-old girl who presented with angina and dyspnoea on exertion with xanthomas and an elevated serum cholesterol and triglyceride. She had severe stenosis of the left main coronary artery (LMCA) requiring angioplasty and placement of Bioresorbable vascular scaffold (BVS)...
February 10, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/28181222/systematic-review-of-laser-therapy-in-xanthelasma-palpebrarum
#15
REVIEW
Austin H Nguyen, Adam M Vaudreuil, Christopher J Huerter
Xanthelasma palpebrarum is a benign periorbital xanthoma with substantial cosmetic and psychosocial burden for patients. Treatment modalities should be considered based on efficacy as well as cosmetic outcome. Laser modalities in the treatment of xanthelasma palpebrarum have not been comprehensively reviewed and discussed. Accordingly, this study seeks to systematically and critically review the available literature discussing laser treatment of xanthelasma palpebrarum. PubMed was systematically reviewed for reports on laser therapy in the treatment of xanthelasma palpebrarum...
March 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28179607/half-a-century-tales-of-familial-hypercholesterolemia-fh-in-japan
#16
Hiroshi Mabuchi
Familial hypercholesterolemia (FH) is a disease characterized by a triad: elevated low-density lipoprotein (LDL) cholesterol, tendon xanthomas, and premature coronary heart disease. Thus, it can be considered as a model disease for hypercholesterolemia and atherosclerotic cardiovascular disease (ASCVD). For the diagnosis of hetero-FH, the detection of Achilles tendon xanthomas by palpation or on X-ray is an indispensable diagnostic skill in clinical lipidology. To prevent the under-diagnosis and under-treatment of FH, the diagnostic criteria should be more convenient and user-friendly...
February 8, 2017: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/28163452/outcome-of-flap-surgeries-in-dermatosurgical-unit-at-a-tertiary-care-centre-in-india-with-a-review-of-literature
#17
Gorur Kalappa Divya, Kanathur Shilpa, Sacchidanand Sarvajnamurthy, Eswari Loganathan, Biju Vasudevan, G B Chitrika, C Madhura, D V Lakshmi
INTRODUCTION: Flap surgeries are an excellent choice for closing large defects following trauma, excision of carcinomas or removal of large lesions. This article is a prospective interventional study of various flap surgeries performed at a tertiary care centre with their outcome in dermatosurgical unit. MATERIALS AND METHODS: A total of 35 flap surgeries performed from January 2012 to December 2014 formed part of the study. Data were recorded for each case including age, sex, indications and type of flap surgery and any occurrence of complications...
October 2016: Journal of Cutaneous and Aesthetic Surgery
https://www.readbyqxmd.com/read/28149940/wart-on-fire-a-rare-entity-of-verruciform-xanthoma-arising-on-a-lower-leg-in-a-setting-of-chronic-lymphedema
#18
Simon F Roy, Robert Prokopetz, Yasmine Ayroud, Laura Pickett, Ivan V Litvinov
No abstract text is available yet for this article.
January 2017: JAAD Case Reports
https://www.readbyqxmd.com/read/28101197/multiple-large-xanthomas-a-case-report
#19
Chen Zhao, Mingxiang Kong, Li Cao, Qiong Zhang, Yong Fang, Weiwei Ruan, Xiaofan Dou, Xiaohui Gu, Qing Bi
A 23-year-old male patient presented with multiple large masses in his elbows, buttocks, knees, Achilles tendons, feet, shoulders and hands. The large masses in the elbows and buttocks measured ~6×5×5 cm and ~7×5×4 cm, respectively. The patient presented with an elevated level of low-density lipoprotein cholesterol, and had been previously diagnosed with homozygous familial hypercholesterolemia (FH) and multiple xanthomas. Local surgical excisions were performed to remove the massive xanthomas from the elbows and buttocks, and histological analysis of the surgical specimens confirmed the previous diagnosis of homozygous FH (HoFH)...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28098593/familial-dysbetalipoproteinemia-an-underdiagnosed-lipid-disorder
#20
Charlotte Koopal, A David Marais, Frank L J Visseren
PURPOSE OF REVIEW: To review pathophysiological, epidemiological and clinical aspects of familial dysbetalipoproteinemia; a model disease for remnant metabolism and remnant-associated cardiovascular risk. RECENT FINDINGS: Familial dysbetalipoproteinemia is characterized by remnant accumulation caused by impaired remnant clearance, and premature cardiovascular disease. Most familial dysbetalipoproteinemia patients are homozygous for apolipoprotein ε2, which is associated with decreased binding of apolipoprotein E to the LDL receptor...
January 16, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
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