Database : MEDLINE
Search on : Xanthomatosis [Words]
References found : 9934 [refine]
Displaying: 1 .. 10   in format [Detailed]

page 1 of 994 go to page                         

  1 / 9934 MEDLINE  
              next record last record
select
to print
Photocopy
Full text

[PMID]: 27771838
[Au] Autor:Rawal YB; Chandra SR; Hall JM
[Ad] Address:Department of Oral and Maxillofacial Surgery, School of Dentistry, University of Washington, B-204 Magnuson Health Sciences Center, 1959 NE Pacific Street, Box 357133, Seattle, WA, 98195, USA. ybrawal@uw.edu.
[Ti] Title:Central Xanthoma of the Jaw Bones: A Benign Tumor.
[So] Source:Head Neck Pathol;11(2):192-202, 2017 Jun.
[Is] ISSN:1936-0568
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Extragnathic xanthomas are seen in the bones or as soft tissue masses. They are often associated with hyperlipidemia and are considered as reactive or metabolic lesions. Only 19 cases of xanthomas of the jaws have been reported so far in the English literature. A total of ten cases of central xanthoma of the jaw bones were identified from the Oral and Maxillofacial Pathology biopsy services of the University of Washington and the Tufts University School of Dental Medicine, between the years 2000-2016. The demographic and clinical information on these cases was tabulated logically on the basis of age, gender, location and presence or absence of symptoms, extragnathic lesions and serum hyperlipidemia. Radiographic and histopathological features were also examined. The findings in these cases were correlated with those available from the previously reported cases. Majority of cases are seen in the second and third decades of life. There is no gender predilection. Jaw lesions presented as solitary radiolucencies with a predilection for the posterior mandible. Unlike maxillary lesions, pain and expansion are inconsistent findings in mandibular lesions. Jaw lesions are not associated with extragnathic bone or soft tissue involvement or a hyperlipidemia. The central xanthoma of the jaws is a unique benign tumor. Histopathologically, many other jaw lesions contain variable numbers of foamy histiocytes. Therefore, a diagnosis of a central xanthoma of the jaws must be made after excluding all other such histiocyte containing lesions. This requires correlation of histopathological findings with clinical and radiographic features.
[Mh] MeSH terms primary: Jaw Diseases/pathology
Xanthomatosis/pathology
[Mh] MeSH terms secundary: Adolescent
Adult
Aged
Child
Female
Humans
Male
Middle Aged
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[Js] Journal subset:IM
[Da] Date of entry for processing:161025
[St] Status:MEDLINE
[do] DOI:10.1007/s12105-016-0764-z

  2 / 9934 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 28463860
[Au] Autor:Graham CA; Latten MJ; Hart PJ
[Ad] Address:aMolecular Diagnostics, Randox Laboratories Ltd., Crumlin bRegional Genetics Centre, Belfast City Hospital, Belfast Health and Social Care Trust, Belfast, UK.
[Ti] Title:Molecular diagnosis of familial hypercholesterolaemia.
[So] Source:Curr Opin Lipidol;28(4):313-320, 2017 Aug.
[Is] ISSN:1473-6535
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:PURPOSE OF REVIEW: Familial hypercholesterolaemia is a hereditary disorder of lipoprotein metabolism which causes a lifelong increase in LDL-C levels resulting in premature coronary heart disease. The present review looks at some of the recent literature on how molecular methods can be used to assist in the definitive diagnosis of familial hypercholesterolaemia in a range of patient groups. RECENT FINDINGS: Several recent studies have shown that the prevalence of clinical familial hypercholesterolaemia is higher than previously thought at 1/200 to 1/300, and that 2-5% of patients presenting with early myocardial infarction can be found to have a familial hypercholesterolaemia mutation. The present review then examines different approaches to molecular testing for familial hypercholesterolaemia including point mutation panels versus next-generation sequencing gene panels, and the range of genes tested by some of those panels. Finally, we review the recent evidence for polygenic hypercholesterolaemia within clinically defined familial hypercholesterolaemia patient populations. SUMMARY: To identify patients with familial hypercholesterolaemia within clinically selected patient groups efficiently, a clinical scoring system should be combined with a molecular testing approach for mutations and for polygenic LDL-C single-nucleotide polymorphisms. Alternatively, a population screening methodology may be appropriate, using mutation testing at an early age before significant atherosclerosis has begun. The precise molecular testing method chosen may depend on the clinical presentation of the patient, and/or the population from which they arise.
[Mh] MeSH terms primary: Hyperlipoproteinemia Type II/diagnosis
Molecular Diagnostic Techniques/methods
[Mh] MeSH terms secundary: High-Throughput Nucleotide Sequencing
Humans
Hyperlipoproteinemia Type II/genetics
Point Mutation
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[Js] Journal subset:IM
[Da] Date of entry for processing:170503
[St] Status:MEDLINE
[do] DOI:10.1097/MOL.0000000000000430

  3 / 9934 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29419393
[Au] Autor:Ford TJ; Rocchiccioli P
[Ad] Address:British Heart Foundation Glasgow Cardiovascular Research Centre, Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, UK.
[Ti] Title:A keen eye for risk.
[So] Source:BMJ;360:j5884, 2018 02 01.
[Is] ISSN:1756-1833
[Cp] Country of publication:England
[La] Language:eng
[Mh] MeSH terms primary: Arcus Senilis/diagnosis
Corneal Diseases/diagnosis
Coronary Artery Disease/diagnosis
Hyperlipoproteinemia Type II/diagnosis
Receptors, LDL/genetics
[Mh] MeSH terms secundary: Antibodies, Monoclonal/administration & dosage
Antibodies, Monoclonal/therapeutic use
Anticholesteremic Agents/administration & dosage
Anticholesteremic Agents/therapeutic use
Arcus Senilis/etiology
Cholesterol/blood
Corneal Diseases/etiology
Coronary Artery Disease/complications
Coronary Artery Disease/etiology
Female
Humans
Hydroxymethylglutaryl-CoA Reductase Inhibitors/therapeutic use
Hyperlipoproteinemia Type II/blood
Hyperlipoproteinemia Type II/drug therapy
Hyperlipoproteinemia Type II/genetics
Injections, Subcutaneous
Middle Aged
Mutation
Proprotein Convertase 9/antagonists & inhibitors
Xanthomatosis/diagnosis
Xanthomatosis/etiology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Antibodies, Monoclonal); 0 (Anticholesteremic Agents); 0 (Hydroxymethylglutaryl-CoA Reductase Inhibitors); 0 (Receptors, LDL); 97C5T2UQ7J (Cholesterol); EC 3.4.21.- (PCSK9 protein, human); EC 3.4.21.- (Proprotein Convertase 9); LKC0U3A8NJ (evolocumab)
[Em] Entry month:1803
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180209
[St] Status:MEDLINE
[do] DOI:10.1136/bmj.j5884

  4 / 9934 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29335316
[Au] Autor:Garrett EL; Chodhari R
[Ad] Address:University College London Hospital Trust, London NW1 2BU, UK.
[Ti] Title:Integrated lipid clinics for adults and children with familial hypercholesterolaemia.
[So] Source:BMJ;360:k75, 2018 01 15.
[Is] ISSN:1756-1833
[Cp] Country of publication:England
[La] Language:eng
[Mh] MeSH terms primary: Ambulatory Care Facilities
Hyperlipoproteinemia Type II/diagnosis
Hyperlipoproteinemia Type II/therapy
[Mh] MeSH terms secundary: Adult
Child
Humans
United Kingdom
[Pt] Publication type:LETTER
[Em] Entry month:1803
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180117
[St] Status:MEDLINE
[do] DOI:10.1136/bmj.k75

  5 / 9934 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29227331
[Au] Autor:Wang Y; Griffiths WJ
[Ad] Address:Swansea University Medical School, ILS1 Building, Singleton Park, Swansea, UK.
[Ti] Title:Unravelling new pathways of sterol metabolism: lessons learned from in-born errors and cancer.
[So] Source:Curr Opin Clin Nutr Metab Care;21(2):90-96, 2018 Mar.
[Is] ISSN:1473-6519
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:PURPOSE OF REVIEW: To update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways. RECENT FINDINGS: Patients suffering from inborn errors of sterol biosynthesis, transport and metabolism display unusual metabolic pathways, which may be major routes in the diseased state but minor in the healthy individual. Although quantitatively minor, these pathways may still be important in healthy individuals. Four inborn errors of metabolism, Smith-Lemli-Opitz syndrome, cerebrotendinous xanthomatosis and Niemann Pick disease types B (NPB) and C (NPC) result from mutations in different genes but can generate elevated levels of the same sterol metabolite, 7-oxocholesterol, in plasma. How this molecule is metabolized further is of great interest as its metabolites may have an important role in embryonic development. A second metabolite, abundant in NPC and NPB diseases, cholestane-3ß,5α,6ß-triol (3ß,5α,6ß-triol), has recently been shown to be metabolized to the corresponding bile acid, 3ß,5α,6ß-trihydroxycholanoic acid, providing a diagnostic marker in plasma. The origin of cholestane-3ß,5α,6ß-triol is likely to be 3ß-hydroxycholestan-5,6-epoxide, which can alternatively be metabolized to the tumour suppressor dendrogenin A (DDA). In breast tumours, DDA levels are found to be decreased compared with normal tissues linking sterol metabolism to cancer. SUMMARY: Unusual sterol metabolites and pathways may not only provide markers of disease, but also clues towards cause and treatment.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:In-Data-Review
[do] DOI:10.1097/MCO.0000000000000442

  6 / 9934 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29484516
[Au] Autor:Wong JC; Walsh K; Hayden D; Eichler FS
[Ad] Address:Department of Neurology, University of California San Francisco, San Francisco, CA, USA.
[Ti] Title:Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.
[So] Source:J Inherit Metab Dis;, 2018 Feb 26.
[Is] ISSN:1573-2665
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:OBJECTIVES: Cerebrotendinous xanthomatosis (CTX) is a rare inherited neurodegenerative disorder in bile acid synthesis. The natural history of neurological abnormalities in CTX is not well understood. The object of this study was to determine neurological progression in CTX. METHODS: A literature search on PubMed for "cerebrotendinous xanthomatosis" yielded 91 publications that reported cases of CTX patients. Two independent reviewers abstracted information about the presence and age of onset of neurological abnormalities in published CTX cases. For each neurological abnormality, we estimated the probability of its onset at any given age using cumulative incidence function analysis. We also present our own case series, in which five CTX patients were evaluated. RESULTS: The literature search yielded 194 CTX cases (ages ranging from newborn to 67 years old). The most common neurological abnormalities were corticospinal tract abnormalities including weakness, hyperreflexia, spasticity, Babinski sign (59.8%), ataxia (58.8%), cognitive decline (46.4%), and gait difficulty (38.1%); 68 (35.0%) had baseline cognitive problems. Cumulative incidence function analysis revealed that ataxia, gait difficulties, and corticospinal tract abnormalities developed throughout life, while cognitive decline tended to develop later in life. Of the less common neurological abnormalities, seizures, psychiatric changes and speech changes developed throughout life, while parkinsonism and sensory changes tended to develop later in life. Our case series corroborated this temporal pattern of neurological abnormalities. CONCLUSION: We provide estimates for the neurological progression of CTX, categorizing neurological abnormalities according to time and probability of development. Our approach may be applicable to other rare disorders.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:Publisher
[do] DOI:10.1007/s10545-018-0152-9

  7 / 9934 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29321515
[Au] Autor:Sekijima Y; Koyama S; Yoshinaga T; Koinuma M; Inaba Y
[Ad] Address:Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan. sekijima@shinshu-u.ac.jp.
[Ti] Title:Nationwide survey on cerebrotendinous xanthomatosis in Japan.
[So] Source:J Hum Genet;63(3):271-280, 2018 Mar.
[Is] ISSN:1435-232X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Cerebrotendinous xanthomatosis (CTX) is likely to be underdiagnosed and precise epidemiological characteristics of CTX are largely unknown as knowledge on the disorder is based mainly on case reports. We conducted a nationwide survey on CTX to elucidate the frequency, clinical picture, and molecular biological background of Japanese CTX patients. In this first Japanese nationwide survey on CTX, 2541 questionnaires were sent to clinical departments across Japan. A total of 1032 (40.6%) responses were returned completed for further analysis. Forty patients with CTX (50.0% male) were identified between September 2012 and August 2015. The mean age of onset was 24.5 ± 13.6 years, mean age at diagnosis was 41.0 ± 11.6 years, and corresponding mean duration of illness from onset to diagnosis was 16.5 ± 13.5 years. The most common initial symptom was tendon xanthoma, followed next by spastic paraplegia, cognitive dysfunction, cataract, ataxia, and epilepsy. The most predominant mutations in the CYP27A1 gene were c.1214G> A (p.R405Q, 31.6%), c.1421G> A (p.R474Q, 26.3%), and c.435G> T (p.G145=, 15.8%). Therapeutic interventions that included chenodeoxycholic acid, HMG-CoA reductase inhibitor, and LDL apheresis reduced serum cholestanol level in all patients and improved clinical symptoms in 40.5% of patients. Although CTX is a treatable neurodegenerative disorder, our nationwide survey revealed an average 16.5-year diagnostic delay. CTX may be underdiagnosed in Japan, especially during childhood. Early diagnosis and treatment are essential to improve the prognosis of CTX.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180226
[Lr] Last revision date:180226
[St] Status:In-Process
[do] DOI:10.1038/s10038-017-0389-4

  8 / 9934 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 28470529
[Au] Autor:Thormählen AS; Runz H
[Ad] Address:Institute of Human Genetics, University of Heidelberg, Heidelberg, 69120, Germany.
[Ti] Title:Systematic Cell-Based Phenotyping of Missense Alleles.
[So] Source:Methods Mol Biol;1601:215-228, 2017.
[Is] ISSN:1940-6029
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Sequencing of the protein-coding genome, the exome, has proven powerful to unravel links between genetic variation and disease for both Mendelian and complex conditions. Importantly, however, the increasing number of sequenced human exomes and mapping of disease-associated alleles is accompanied by a simultaneous, yet exponential increase in the overall number of rare and low frequency alleles identified. For most of these novel alleles, biological consequences remain unknown since reliable experimental approaches to better characterize their impact on protein function are only slowly emerging.Here we review a scalable, cell-based strategy that we have recently established to systematically profile the biological impact of rare and low frequency missense variants in vitro. By applying this approach to missense alleles identified through cohort-level exome sequencing in the low-density lipoprotein receptor (LDLR) we are able to distinguish rare alleles that predispose to familial hypercholesterolemia and myocardial infarction from alleles without obvious impact on LDLR levels or functions. We propose that systematic implementation of such and similar strategies will significantly advance our understanding of the protein-coding human genome and how rare and low frequency genetic variation impacts on health and disease.
[Mh] MeSH terms primary: Alleles
Hyperlipoproteinemia Type II/genetics
Mutation, Missense
Myocardial Infarction/genetics
Receptors, LDL/genetics
Receptors, LDL/metabolism
[Mh] MeSH terms secundary: DNA, Complementary/chemistry
Exome/genetics
Genetic Predisposition to Disease
Green Fluorescent Proteins/chemistry
HeLa Cells
Humans
Phenotype
RNA, Small Interfering
Sequence Analysis, DNA
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (DNA, Complementary); 0 (LDLR protein, human); 0 (RNA, Small Interfering); 0 (Receptors, LDL); 147336-22-9 (Green Fluorescent Proteins)
[Em] Entry month:1802
[Cu] Class update date: 180219
[Lr] Last revision date:180219
[Js] Journal subset:IM
[Da] Date of entry for processing:170505
[St] Status:MEDLINE
[do] DOI:10.1007/978-1-4939-6960-9_17

  9 / 9934 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29260356
[Au] Autor:Catarino CB; Vollmar C; Küpper C; Seelos K; Gallenmüller C; Bartkiewicz J; Biskup S; Hörtnagel K; Klopstock T
[Ad] Address:Department of Neurology with Friedrich-Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany.
[Ti] Title:Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.
[So] Source:J Neurol;265(2):388-393, 2018 Feb.
[Is] ISSN:1432-1459
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Cerebrotendinous xanthomatosis (CTX, MIM 213700) is a rare autosomal recessive lipid storage disorder caused by CYP27A1 mutations. Treatment with chenodeoxycholic acid (CDCA) may slow the progression of the disease and reverse some symptoms in a proportion of patients. In a non-consanguineous Caucasian family, two siblings with CTX were evaluated before treatment and prospectively followed-up every 6 months after starting CDCA therapy, using systematic clinical examination, neuropsychological tests, laboratory tests, electroencephalography (EEG) and brain MRI, diffusion tensor imaging (DTI) and tractography. A 30-year-old patient and her 27-year-old brother were referred for progressive spastic paraparesis. Both had epilepsy, learning difficulties, chronic diarrhoea and juvenile-onset cataracts. CTX was diagnosed by increased cholestanol levels and compound heterozygosity for CYP27A1 mutations. Therapy with CDCA led to resolution of chronic diarrhoea, normalisation of serum cholestanol and EEG, and a progressive improvement in gait, cognition and seizure control. Before treatment, conventional brain MRI showed no CTX-related abnormalities for the proband and no cerebellar abnormalities for the brother, while DTI showed reduced fractional anisotropy (FA) and tract-density in the cerebellum and widespread cerebral reductions of FA in both patients, compared to a group of 35 healthy controls. Repeated DTI after starting therapy showed progressive increases of cerebellar tract density and of cerebral FA. In patients with CTX, therapy with CDCA may lead to significant clinical improvement, with normalisation of biochemical and electrophysiological biomarkers. DTI and tractography may detect changes when the conventional MRI is unremarkable and may provide potential neuroimaging biomarkers for monitoring treatment response in CTX, while the conventional MRI remains unchanged.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180219
[Lr] Last revision date:180219
[St] Status:In-Process
[do] DOI:10.1007/s00415-017-8711-9

  10 / 9934 MEDLINE  
              first record previous record
select
to print
Photocopy
Full text

[PMID]: 29390551
[Au] Autor:Li D; You L; Fan S; Tan L
[Ad] Address:Department of Radiology, The Second Xiangya Hospital of Central South University, Changsha, Hunan.
[Ti] Title:Xanthomatosis in bilateral hands mimicking rheumatoid arthritis: A case report.
[So] Source:Medicine (Baltimore);96(51):e9399, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:RATIONALE: Xanthomatosis often accompanies familial hypercholesterolemia. This disease usually occurs in tendons, most commonly located in the Achilles tendon; occasionally it can also be seen in other systems. Although there are previous reports for bilateral hand extensor tendon involvement, to our knowledge there is no report in English literature regarding bilateral hands with small joint synovium presenting as rheumatoid arthritis. Therefore, the case that is presented in this report is unique. PATIENT CONCERNS: An 18-year-old woman was admitted to our department because she presented with morning stiffness, joint deformation, and swelling in both hands. Computed tomography of the right hand showed soft tissue swelling on multiple small joints, including metacarpophalangeal and proximal interphalangeal joints, but without obvious bone destruction. There was soft tissue swelling around the small joints, which were hypointensities on T1-weighted and hyperintensities on T2-weighted images, not uniformly enhanced appearances on magnetic resonance imaging. DIAGNOSES: Biopsy from the 3rd metacarpophalangeal joint capsule of the left hand confirmed xanthoma. INTERVENTIONS: She was treated with statin drugs to reduce blood fat. OUTCOMES: After 3 months of follow-up, no recurrence or complications were detected regarding a full range of motion remaining of the affected joints. LESSONS: The young patient with symptoms of small joint synovium involved in both hands and the performance of magnetic resonance imaging similar to rheumatoid arthritis may be suffering from xanthomatosis.
[Mh] MeSH terms primary: Arthritis, Rheumatoid/diagnosis
Finger Joint
Metacarpophalangeal Joint
Xanthomatosis/diagnosis
[Mh] MeSH terms secundary: Adolescent
Arthritis, Rheumatoid/pathology
Diagnosis, Differential
Female
Finger Joint/diagnostic imaging
Finger Joint/pathology
Humans
Magnetic Resonance Imaging
Metacarpophalangeal Joint/diagnostic imaging
Metacarpophalangeal Joint/pathology
Tomography, X-Ray Computed
Xanthomatosis/pathology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180214
[Lr] Last revision date:180214
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009399


page 1 of 994 go to page                         
   


Refine the search
  Database : MEDLINE Advanced form   

    Search in field  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/PAHO/WHO - Latin American and Caribbean Center on Health Sciences Information