keyword
MENU ▼
Read by QxMD icon Read
search

xanthoma

keyword
https://www.readbyqxmd.com/read/28924999/bone-marrow-xanthomas-associated-with-hypertriglyceridemia
#1
Nelson Cn Chan, Chak-Chung Chan, Natalie Ph Chan
No abstract text is available yet for this article.
September 19, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28918161/clinical-and-pathological-significance-of-cutaneous-manifestations-in-anca-associated-vasculitides
#2
REVIEW
Laure Frumholtz, Sara Laurent-Roussel, Olivier Aumaître, François Maurier, Guillaume Le Guenno, Agnes Carlotti, Alexiane Dallot, Jean Louis Kemeny, Laurent Antunes, Nicolas Froment, Sylvie Fraitag, Jonathan London, Alice Berezne, Benoît Terris, Claire Le Jeunne, Luc Mouthon, Selim Aractingi, Loïc Guillevin, Nicolas Dupin, Benjamin Terrier
OBJECTIVES: Cutaneous manifestations (CM) in ANCA-associated vasculitides (AAV) are frequent, but data on clinical significance and clinical-pathological correlations are lacking. METHODS: We conducted a multicenter, retrospective study including 1553 AAV patients. Clinical, biological and pathological features have been analyzed, and tissue samples from 46 biopsies were reviewed in a blind manner. RESULTS: CM were more frequent in EGPA (53...
September 14, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28895539/frequency-and-clinical-and-molecular-aspects-of-familial-hypercholesterolemia-in-an-endocrinology-unit-in-ciudad-bol%C3%A3-var-venezuela
#3
Marcos M Lima-Martínez, Mariela Paoli, Alejandra Vázquez-Cárdenas, María Teresa Magaña-Torres, Ornella Guevara, María Carolina Muñoz, Alberto Parrilla-Alvarez, Yuliangelys Márquez, Ana Medeiros, Mafalda Bourbon
OBJECTIVE: To assess the frequency and the clinical, biochemical, and molecular aspects of familial hypercholesterolemia (FH) in subjects attending an endocrinology unit. METHODS: An observational, descriptive study evaluating 3,140 subjects attending the endocrinology unit of Centro Médico Orinoco in Ciudad Bolívar, Venezuela, from 7 January 2013 to 9 December 2016. The index cases were selected using the Dutch Lipid Clinic Network criteria. Plasma lipid levels were measured, and a molecular analysis was performed by DNA sequencing of the LDLR and APOB genes...
October 2017: Endocrinología, diabetes y nutrición
https://www.readbyqxmd.com/read/28871936/xanthoma-like-skin-changes-in-an-elderly-woman-with-a-normal-lipid-profile
#4
Piotr Nockowski, Zdzisław Woźniak, Adam Reich, Joanna Maj
Dear Editor, An 83-year-old woman developed yellow-brownish infiltrates, nodules, and tumors mimicking xanthomas, mostly involving the periorbital and chest area within three months (Figure 1). She had no abnormalities in serum cholesterol or triglycerides levels. A detailed laboratory analysis revealed the presence of mild monoclonal gammopathy with a presence of immunoglobulin G (IgG) kappa light chains; however, according to hematologist consultation, it did not require medical intervention. Imaging assessment and ultrasound examination did not show any specific involvement of internal organs...
July 2017: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/28868113/gastric-xanthoma-is-a-predictive-marker-for-metachronous-and-synchronous-gastric-cancer
#5
Narihiro Shibukawa, Shohei Ouchi, Shuji Wakamatsu, Yuhei Wakahara, Akira Kaneko
AIM: To investigate predictive markers for metachronous and synchronous gastric cancer (GC), which can develop after endoscopic submucosal dissection (ESD). METHODS: A total of 352 patients underwent ESD for early GC at NTT West Osaka Hospital between June 2006 and February 2016. Exclusion criteria were as follows: Remnant stomach, unknown Helicobacter pylori status, and endoscopic observation of the whole stomach outside our hospital. We analyzed data from 192 patients comprising 109 patients with solitary GC (Group A) and 83 with metachronous and synchronous GC (Group B)...
August 15, 2017: World Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/28825891/achilles-tendon-xanthomas-fat-water-separation-at-baseline-and-after-treatment
#6
James F Griffith, Miao Hu, David K W Yeung, Pei Guo, Sik Lok Lam, Fan Xiao, Defeng Wang, Brian Tomlinson
Purpose To investigate the fat-water content of Achilles tendon xanthomas at baseline and after treatment and to compare this assessment with that of ultrasonography (US) and other magnetic resonance (MR) imaging-based parameters. Materials and Methods Forty-eight Achilles tendons with clinically apparent xanthomas in 24 patients with familial hypercholesterolemia (FH) (six men, 18 women; mean age ± standard deviation, 58 years ± 9) were compared with 20 Achilles tendons in 10 control subjects without FH (two men, eight women; mean age, 62 years ± 7)...
August 21, 2017: Radiology
https://www.readbyqxmd.com/read/28802503/fibrohistiocytic-tumors
#7
REVIEW
Ryan C Romano, Karen J Fritchie
Fibrohistiocytic tumors are a diverse group of reactive and neoplastic lesions including xanthoma, fibrous histiocytoma and its variants, solitary xanthogranuloma, dermatofibrosarcoma protuberans, and atypical fibroxanthoma. This article reviews some of the more commonly encountered fibrohistiocytic tumors with an emphasis on clinical presentation, macroscopic and histologic characteristics, molecular/cytogenetic findings where applicable, and differential diagnoses.
September 2017: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/28777095/pcsk-9-gain-of-function-mutations-r496w-and-d374y-and-clinical-cardiovascular-characteristics-in-a-cohort-of-turkish-patients-with-familial-hypercholesterolemia
#8
Esra Kaya, Meral Kayıkçıoğlu, Aslı Tetik Vardarlı, Zuhal Eroğlu, Serdar Payzın, Levent Can
OBJECTIVE: The molecular basis of the mutations in the PCSK9 gene that produces familial hypercholesterolemia (FH) in the Turkish population is unknown. This study was conducted to determine the presence of four different PCSK9 gain-of-function (GOF) mutations (F216L, R496W, S127R, and D374Y) in a group of patients with FH. METHODS: A total of 80 consecutive patients with FH (mean age: 56±11 years; mean maximum LDL cholesterol: 251±76 mg/dL) were included in the study...
August 2, 2017: Anatolian Journal of Cardiology
https://www.readbyqxmd.com/read/28771437/carotid-intima-media-thickness-in-a-girl-with-sitosterolemia-carrying-a-homozygous-mutation-in-the-abcg5-gene
#9
Hideaki Yagasaki, Takaya Nakane, Takako Toda, Kisho Kobayashi, Kouki Aoyama, Takeshi Ichikawa, Kanji Sugita
BACKGROUND: Sitosterolemia is a rare lipid metabolism disorder that involves storage of plant sterols. This disease is associated with atherosclerosis, but detailed vascular endothelial assessment is difficult. CASE PRESENTATION: We report a 5-year-old girl with sitosterolemia who presented with xanthomas at 23 months of age. Her total cholesterol was 868 mg/dL, and her plasma sitosterol level was 9.48 mg/dL. Direct sequencing detected a homozygous mutation in gene ABCG5 (p...
August 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28767354/xanthomas-in-familial-hypercholesterolemia
#10
Amitabh Poonia, Priya Giridhara
A 13-year-old boy presented to a primary care clinic with skin lesions on his buttocks, elbow, and knees (Panels A, B, and C). The lesions were initially noted when he was 5 years of age, but no medical care was sought until similar lesions were apparent in his younger brother several years later..
August 3, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28761282/verruciform-xanthoma-of-the-tongue
#11
Sanjay Byakodi, Barun Kumar, Sandeep Patil, Swapnil Shinde
Verruciform xanthoma is a benign, soft tissue lesion occurring on the orogenital mucosa. Presentation of oral lesions can be pink, yellow, or gray raised plaque or papule with granular, papillary, or verrucous in nature. There are many theories proposed for the etiopathogenesis of verruciform xanthoma. Clinical observations may be misguiding as the lesion resembles malignant and premalignant lesions. Histopathological confirmation is essential for diagnosis and avoiding radical surgery. Once excised, the lesion does not recur...
January 2017: National Journal of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28739549/mutations-in-the-abcg8-gene-are-associated-with-sitosterolaemia-in-the-homozygous-form-and-xanthelasmas-in-the-heterozygous-form
#12
Tara Bardawil, Abdallah Rebeiz, Myriam Chaabouni, Jessica El Halabi, Zakaria Kambris, Ossama Abbas, Ossama Abou Hassan, Lamiaa Hamie, Fadi Bitar, Abdul Ghani Kibbi, Georges Nemer, Mazen Kurban
Sitosterol is the most abundant plant sterol found in our diet. Sitosterolemia (OMIM 210250), also known as phytosterolaemia, is a rare autosomal recessive disease caused by the inability to efficiently excrete plant sterol, and is characterized by cutaneous xanthomas and accelerated atherosclerosis. Sitosterolaemia is caused by homozygous or compound heterozygous mutations in either ABCG5 or ABCG8 (both on chromosome 2p21), which encode the sterol efflux transporter ABCG5 (sterolin-1) and ABCG8 (sterolin-2), respectively...
July 25, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/28696550/two-novel-variants-of-the-abcg5-gene-cause-xanthelasmas-and-macrothrombocytopenia-a-brief-review-of-hematologic-abnormalities-of-sitosterolemia
#13
J M Bastida, R Benito, K Janusz, M Díez-Campelo, J M Hernández-Sánchez, S Marcellini, M Girós, J Rivera, M L Lozano, A Hortal, J M Hernández-Rivas, J R González-Porras
Essentials Diagnosis of sitosterolemia, a rare recessive or syndromic disorder, is usually delayed. Peripheral blood smear is extremely useful for establishing the suspicion of sitosterolemia. High-throughput sequencing technology enables the molecular diagnosis of inherited thrombocytopenias. Accurate characterization of sitosterolemia helps us determine appropriate management. SUMMARY: Background Sitosterolemia (STSL) is a recessive inherited disorder caused by pathogenic variants in the ABCG5 and ABCG8 genes...
July 11, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28689098/evaluation-of-clinical-and-laboratory-parameters-used-in-the-identification-of-index-cases-for-genetic-screening-of-familial-hypercholesterolemia-in-brazil
#14
Pãmela R S Silva, Cinthia E Jannes, Theo G M Oliveira, Marcio H Miname, Viviane Z Rocha, Ana Paula Chacra, Maria Helane C Gurgel, Renan M Montenegro, Carlos Roberto M Rodrigues Sobrinho, Annie Seixas Bello Moreira, Marcelo H V Assad, Marina R C Pinto, Mauricio Teruo Tada, Raul D Santos, Alexandre C Pereira, Jose E Krieger
BACKGROUND AND AIMS: There is controversy on the accuracy of different diagnostic criteria for familial hypercholesterolemia (FH). The aim of this study is to assess the performance of different clinical criteria used to identify individuals for FH genetic cascade screening in Brazil. METHODS: All index cases (IC) registered in the Hipercol Brasil program between 2011 and 2016 were analyzed. Inclusion criteria were age ≥18 years and elevated LDL-cholesterol (LDL-C) levels, with a conclusive result in the genetic test, whether positive or negative...
June 22, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28666611/treatment-of-xanthelasma-palpebrarum-with-a-1064-nm-q-switched-nd-yag-laser
#15
Jun Khee Heng, Sze Hon Chua, Chee Leok Goh, Suzanne Cheng, Virlynn Tan, Wee Ping Tan
BACKGROUND: Xanthelasma palpebrarum is the most common cutaneous xanthoma characterized by soft, yellow papules or plaques that arise on the periorbital skin. As these lesions can be cosmetically disfiguring, many patients seek medical help to remove these lesions. OBJECTIVE: To determine the effectiveness and minimum number of treatment sessions with a 1064-nm, Q-switched neodymium-doped yttrium aluminum garnet (Nd:YAG) laser for the treatment of xanthelasma. METHODS: A retrospective review of patients with xanthelasma consecutively treated with Q-switched Nd:YAG laser was conducted...
October 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28656115/two-cases-of-rectal-xanthoma-presenting-as-yellowish-to-whitish-lesions-during-colonoscopy
#16
Masaya Iwamuro, Takehiro Tanaka, Daisuke Takei, Yuusaku Sugihara, Keita Harada, Sakiko Hiraoka, Yoshiro Kawahara, Hiroyuki Okada
Two cases of rectal xanthomas are described. One case is that of a 56-year-old Japanese man in whom multiple yellowish spots measuring approximately 3 to 5 mm were observed in the rectum during colonoscopy. The other case is that of a 78-year-old Japanese man in whom colonoscopy showed a whitish plaque of 4 mm in diameter in the rectum. Biopsy examinations performed on both patients revealed the deposition of xanthoma cells within the rectal mucosa. Within the gastrointestinal tract, xanthomas most frequently arise in the stomach, whereas the colorectum is rarely affected...
2017: Case Reports in Gastrointestinal Medicine
https://www.readbyqxmd.com/read/28652530/achilles-tendon-ultrasonography-for-diagnosis-of-familial-hypercholesterolemia-among-japanese-subjects
#17
Masahito Michikura, Masatsune Ogura, Masahiro Yamamoto, Masahiko Sekimoto, Chizuru Fuke, Mika Hori, Koji Arai, Shinji Kihara, Kiminori Hosoda, Koji Yanagi, Mariko Harada-Shiba
BACKGROUND: Difficulty in detecting and measuring Achilles tendon (AT) xanthomas may be responsible for underdiagnosis of familial hypercholesterolemia (FH). We aimed to determine a cutoff value for AT thickness (AT-T) using ultrasonography to diagnose FH, and to investigate the relationship between AT-T and atherosclerosis.Methods and Results:Ultrasonographic AT-T and carotid intima-media thickness (IMT) were evaluated in 130 genetically diagnosed FH patients and 155 non-FH patients...
June 23, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28644566/clinical-characteristics-and-outcome-of-liver-transplantation-for-alagille-syndrome-in-children
#18
Tao Zhou, Jianjun Zhang, Yi Luo, Yuan Liu, Sy Zhuang, Feng Xue, Longzhi Han, Qiang Xia
AIM: The aim of this study was to analyze clinical characteristics and outcome of liver transplantation for Alagille syndrome in children. METHOD: By retrospectively reviewing the medical records of 9 Alagille syndrome patients(AGS) with liver transplantation(LT) in Renji Hospital between 2006 and 2015,After operative,the height and weight Z score were compared with preoperative. RESULT: There were 9 patients included in the study; cholestasis and peculiar faces were seen in all of the patients (100%), heart defect in 8 patients (88...
June 23, 2017: Journal of Digestive Diseases
https://www.readbyqxmd.com/read/28623742/effect-of-intensive-ldl-cholesterol-lowering-with-pcsk9-monoclonal-antibodies-on-tendon-xanthoma-regression-in-familial-hypercholesterolemia
#19
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
#20
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
keyword
keyword
3774
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"