keyword
MENU ▼
Read by QxMD icon Read
search

xanthoma

keyword
https://www.readbyqxmd.com/read/28802503/fibrohistiocytic-tumors
#1
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
#2
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
#3
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 3, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28767354/xanthomas-in-familial-hypercholesterolemia
#4
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
#5
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
#6
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-hematological-abnormalities-of-sitosterolemia
#7
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
BACKGROUND: Sitosterolemia (STSL) is a recessive inherited disorder caused by pathogenic variants in ABCG5 and ABCG8 genes. Increased levels of plasma plant sterols (PS) usually produce xanthomas and premature coronary atherosclerosis, although hematological abnormalities may occasionally be present. This clinical picture is unfamiliar to many physicians, and patients may be at high risk of misdiagnosis. OBJECTIVES: To report two novel ABCG5 gene variants causing STSL in a Spanish patient, and review the clinical and mutational landscape of STSL...
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
#8
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
#9
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...
June 27, 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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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...
August 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28576280/-familial-hypercholesterolemia-a-largely-underestimated-cardiovascular-risk
#18
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
#19
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
#20
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
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"