Search our Database of Scientific Publications and Authors

I’m looking for a

    5481 results match your criteria Xanthomas

    1 OF 110

    A case of sitosterolemia due to compound heterozygous mutations in ABCG5: clinical features and treatment outcomes obtained with colestimide and ezetimibe.
    Clin Pediatr Endocrinol 2017 Jan 31;26(1):17-23. Epub 2017 Jan 31.
    Department of Pediatrics, Kawasaki Medical School, Okayama, Japan.
    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. Read More

    Cytochrome P450 27A1 Deficiency and Regional Differences in Brain Sterol Metabolism Cause Preferential Cholestanol Accumulation in the Cerebellum.
    J Biol Chem 2017 Feb 11. Epub 2017 Feb 11.
    Case Western Reserve University, United States;
    Cytochrome P450 27A1 (CYP27A1 or sterol 27-hydroxylase) is a ubiquitous, multifunctional enzyme catalyzing regio- and stereo-specific hydroxylation of different sterols. In humans, complete CYP27A1 deficiency leads to cerebrotendinous xanthomatosis or nodule formation in tendons and brain (preferentially in the cerebellum) rich in cholesterol and cholestanol, the 5α-saturated analog of cholesterol. In Cyp27a1(-/-) mice, xanthomas are not formed, despite a significant cholestanol increase in the brain and cerebellum. Read More

    Left main coronary angioplasty of a 9-year-old child with bioresorable vascular scaffold.
    Catheter Cardiovasc Interv 2017 Feb 10. Epub 2017 Feb 10.
    Cardiac Cath Lab, Fortis Hospitals, Mumbai, 400078, India.
    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). Read More

    Half a Century Tales of Familial Hypercholesterolemia (FH) in Japan.
    J Atheroscler Thromb 2017 Feb 8. Epub 2017 Feb 8.
    Division of Clinical Lipidology, Department of Cardiology, Kanazawa University.
    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. Read More

    The role of dentate nuclei in human oculomotor control: insights from Cerebrotendinous xanthomatosis.
    J Physiol 2017 Feb 7. Epub 2017 Feb 7.
    Eye tracking & Visual Application Lab (EVA Lab) - Neurology and Neurometabolic Unit, Department of Medical and Surgical Sciences and Neurosciences, University of Siena, Italy.
    It is well known that the medial cerebellum controls saccadic speed and accuracy. In contrast, the role of the lateral cerebellum (cerebellar hemispheres and dentate nuclei, DN) is less understood. Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder due to mutations in CYP27A1, typically characterized by DN damage. Read More

    [Hyperlipoproteinemia and dyslipidemia as rare diseases. Diagnostics and treatment].
    Vnitr Lek 2016 ;62(11):887-894
    Hyperlipoproteinemia (HLP) and dyslipidemia (DLP) are of course mainly perceived as diseases of common incidence and are typically seen as the greatest risk factors (RF) in the context of the pandemic of cardiovascular diseases. This is certainly true and HLP or DLP overall affect tens of percents of adults. However we cannot overlook the fact that disorders (mostly congenital) of lipid metabolism exist which, though not formally defined as such, amply satisfy the conditions for classification as rare diseases. Read More

    Multiple large xanthomas: A case report.
    Oncol Lett 2016 Dec 18;12(6):4327-4332. Epub 2016 Oct 18.
    Department of Orthopedics, The Second Clinical Medical College, Wenzhou Medical University, Wenzhou, Zhejiang 325000, P.R. China.
    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. Read More

    Familial dysbetalipoproteinemia: an underdiagnosed lipid disorder.
    Curr Opin Endocrinol Diabetes Obes 2017 Jan 16. Epub 2017 Jan 16.
    aVascular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands bDivision of Chemical Pathology, University of Cape Town Health Science Faculty and National Health Laboratory Service, Cape Town, South Africa.
    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. Read More

    Value of the Definition of Severe Familial Hypercholesterolemia for Stratification of Heterozygous Patients.
    Am J Cardiol 2017 Mar 2;119(5):742-748. Epub 2016 Dec 2.
    Unidad Clínica e Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, IIS Aragón, Universidad de Zaragoza, Zaragoza, Spain.
    Familial hypercholesterolemia (FH) is characterized by high low-density lipoprotein (LDL) cholesterol with co-dominant transmission and high risk of cardiovascular disease (CVD), although with high variability among subjects. Currently, CVD stratification tools for heterozygous FH (HeFH) are not available. A definition of severe HeFH has been recently proposed by the International Atherosclerosis Society (IAS), but it has not been validated. Read More

    Verruciform xanthoma in the hard palate: a case report and literature review.
    J Korean Assoc Oral Maxillofac Surg 2016 Dec 27;42(6):383-387. Epub 2016 Dec 27.
    Department of Surgery, Stomatology, Pathology and Radiology, Bauru School of Dentistry, University of São Paulo, Bauru, Brazil.
    Oral verruciform xanthoma (OVX) is an uncommon lesion that appears on the oral mucosa. The aim of this paper was to discuss the probable etiopathogenesis of OVX in the hard palate, reinforcing the importance of including this lesion in the differential diagnosis of verrucous lesions. A 43-year-old male smoker presented with a painless lesion with a verrucous surface and erythematous spots on the hard palate. Read More

    Mutation detection in Chinese patients with familial hypercholesterolemia.
    Springerplus 2016 12;5(1):2095. Epub 2016 Dec 12.
    The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410013 China ; Department of Cardiology, The Second Xiangya Hospital of Central South University, Changsha, 410011 China.
    Background: Familial hypercholesterolemia (FH) is the first molecularly and clinically characterized genetic disease of lipid metabolism. It is an autosomal dominant disorder with significantly elevated levels of total cholesterol and low density of lipoprotein cholesterol in serum, which would lead to extensive xanthomas and premature coronary heart disease. Mutations in low density lipoprotein receptor (LDLR), proprotein convertase subtilisin/kexin type 9 and Apo lipoprotein B-100 (APOB) have been identified to be the underlying cause of this disease. Read More

    Homozygous familial hypercholesterolaemia in China: a genotype-phenotype analysis of cross-sectional data.
    Lancet 2016 Oct;388 Suppl 1:S83
    Beijing An Zhen Hospital, Capital Medical University, The Key Laboratory of Remodeling-Related Cardiovascular Diseases, Ministry of Education, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing, China. Electronic address:
    Background: Homozygous familial hypercholesterolaemia is a rare life-threatening disease characterised by markedly elevated LDL cholesterol concentrations and accelerated atherosclerosis. Few studies have focused specifically on this group of patients, especially in China. We set out to investigate the phenotypical characteristics and the genotype-phenotype correlations of homozygous familial hypercholesterolaemia in China. Read More

    New JAG1 mutation causing Alagille Syndrome presenting with severe hypercholesterolemia: Case report with emphasis on genetics and lipid abnormalities.
    J Clin Endocrinol Metab 2016 Dec 14:jc20163171. Epub 2016 Dec 14.
    1 Division of Endocrinology, Metabolism and Diabetes. Department of Medicine University of Miami Miller School of Medicine. Miami, Fl 33136.
    Context: Alagille syndrome is a rare autosomal dominant genetic disorder caused by defects in the Notch signaling pathway that involves multiple organ systems. Bile duct paucity is the main characteristic feature of the disease, which often leads to cholestatic hypercholesterolemia.

    Case Description: We report the case of a male infant who at one year of age had developed failure to thrive, jaundice, intermittent pruritus and multiple diffuse symmetrical skin xanthomas. Read More

    Early severe coronary artery disease and aortic coarctation in a child with familial hypercholesterolaemia.
    BMJ Case Rep 2016 Nov 30;2016. Epub 2016 Nov 30.
    Department of Cardiovascular Medicine, Cairo University, Giza, Egypt.
    An 11-year-old boy presented with easy fatigability, multiple xanthomas, and absent pedal pulsations. Laboratory workup showed severe hypercholesterolaemia and non-invasive imaging revealed 'normally functioning' bicuspid aortic valve and tight aortic coarctation. Coronary angiography showed severe right coronary artery (RCA) stenosis. Read More

    Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series.
    Neurol Sci 2016 Nov 25. Epub 2016 Nov 25.
    Department of Neurology, Faculty of Medicine, Albert Szent-Györgyi Clinical Centre, University of Szeged, Semmelweis u. 6, Szeged, 6725, Hungary.
    Cerebrotendinous xanthomatosis (CTX) is a rare, genetically determined error of metabolism. The characteristic clinical symptoms are diarrhea, juvenile cataracts, tendon xanthomas and neuropsychiatric alterations. The aim of this study is to present a pair of identical adult twins with considerable differences in the severity of phenotype. Read More

    Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation.
    Stem Cell Res 2016 Sep 17;17(2):433-436. Epub 2016 Sep 17.
    Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany.
    Induced pluripotent stem cells (iPSCs) were generated from dermal fibroblasts from a 60-year-old cerebrotendinous xanthomatosis (CTX) patient, carrying a homozygous mutation c. [1183C>A]; p. R395S in CYP27A1. Read More

    Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability.
    JIMD Rep 2016 Nov 18. Epub 2016 Nov 18.
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.
    Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism leading to progressive multisystem disease. Symptoms often begin in the first decade of life with chronic diarrhea, cataracts, developmental delay, intellectual disability, and cerebellar or pyramidal dysfunction. Later manifestations include tendon xanthomas, polyneuropathy, and abnormal neuroimaging. Read More

    Vegas (Verruciform Genital-Associated) Xanthoma: A Comprehensive Literature Review.
    Dermatol Ther (Heidelb) 2016 Nov 15. Epub 2016 Nov 15.
    Department of Dermatology, University of California San Diego, La Jolla, CA, USA.
    Introduction: Verruciform xanthoma is a wart-like benign lesion. The classic histologic appearance consists of foamy histiocytes within elongated dermal papillae and epithelial acanthosis. The lesion most commonly occurs in the oral cavity, but has been reported in extra-oral sites such as the penis, scrotum, and vulva. Read More

    Pathophysiology of cerebrotendinous xanthomatosis.
    Rinsho Shinkeigaku 2016 Dec 12;56(12):821-826. Epub 2016 Nov 12.
    Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Yamagata University Faculty of Medicine.
    Cerebrotendinous xanthomatosis (CTX) is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene, which lead to deficiency of the mitochondrial enzyme, sterol 27-hydroxylase, resulting in the accumulation of cholestanol in the serum and many affected lesions. To date, more than 50 different CYP27A1 mutations, including missense mutations, frameshifts, and splice site mutations, have been reported worldwide in patients with CTX. Clinical presentation is characterized by neonatal jaundice or cholestasis, refractory diarrhea, juvenile cataracts, tendon xanthomas, osteoporosis, coronary heart disease, and progressive neuropsychiatric disturbances; however, combinations of symptoms vary from patient to patient. Read More

    Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.
    Atherosclerosis 2016 Dec 14;255:31-36. Epub 2016 Oct 14.
    Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India.
    Background And Aims: Homozygous familial hypercholesterolemia (FH) is a rare but serious, inherited disorder of lipid metabolism characterized by very high total and LDL cholesterol levels from birth. It presents as cutaneous and tendon xanthomas since childhood, with or without cardiac involvement. FH is commonly caused by mutations in three genes, i. Read More

    Exceptionally elevated triglyceride in severe lipemia retinalis.
    Int Med Case Rep J 2016 21;9:333-336. Epub 2016 Oct 21.
    Department of Ophthalmology, Florida International University, Herbert Wertheim College of Medicine; Ocular Surface Center, Miami.
    Purpose: To report a case of successful treatment for severe lipemia retinalis with extreme severe hypertriglyceridemia (sHTG).

    Design: Observational case report.

    Observations: A 6-week-old infant with severe lipemia retinalis manifested diffuse creamy retinal vessels complicated with vulvar xanthomas. Read More

    A case of cerebrotendinous xanthomatosis mimicking the clinical phenotype of mitochondrial disease with a novel frame-shift mutation (c. 43_44 delGG) in CYP27A1 gene exon 1.
    Rinsho Shinkeigaku 2016 Oct 28;56(10):667-671. Epub 2016 Oct 28.
    Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University.
    A 37-old-male with a history of early childhood mental retardation was admitted to our hospital. He experienced recurrent syncopes at 23 years old, and at age 35 gait disturbance and hearing impairment developed gradually and worsened over time. His grandparents were in a consanguineous marriage. Read More

    Skin tumours and skin aging in 209 French elderly people: the PROOF study.
    Eur J Dermatol 2016 Oct;26(5):470-476
    Department of Dermatology, University Hospital of Saint Etienne, Cedex 2, 42055 Saint Etienne, France.
    Few studies have evaluated the prevalence of skin tumours in the geriatric population and none have analysed different skin aging parameters for whole-body skin in this population. To evaluate the prevalence of skin tumours and global skin aging in a French cohort of elderly people. In total, 209 subjects, 105 women and 104 men (mean age: 77. Read More

    Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia.
    J Dermatol 2016 Nov 12;43(11):1340-1344. Epub 2016 Jul 12.
    Department of Dermatology, Kawasaki Medical School, Kurashiki, Japan.
    Sitosterolemia is a very rare autosomal recessive lipoprotein metabolic disorder caused by homozygous or compound heterozygous mutations in one of the two adenosine triphosphate-binding cassette transporter genes, ABCG5 and ABCG8. Sitosterolemia is clinically characterized by xanthomas and atherosclerosis, arthritis, fever, hemolysis and macrothrombocytopenia even in early childhood. We described a 16-month-old girl, who had numerous yellowish-brown intertriginous xanthomas along the skin creases on the extremities with severe hypercholesterolemia and elevated plant sterol levels. Read More

    Central Xanthoma of the Jaw Bones: A Benign Tumor.
    Head Neck Pathol 2016 Oct 22. Epub 2016 Oct 22.
    Tufts University School of Dental Medicine, Dunedin, FL, USA.
    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. Read More

    Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis.
    Indian Pediatr 2016 Oct;53(10):917-919
    Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, India. Correspondence to: Dr Shilpa Kulkarni, EEG room, 2nd floor, Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Parel, Mumbai 400 012, Maharashtra, India.
    Background: Cerebrotendinous xanthomatosis is an inherited lipid storage disease manifesting with infantile onset diarrhea, cataracts, xanthomas and adult-onset neurological dysfunction with cerebellar signs and neuropathy.

    Case Characteristics: 10-year-old boy presented with progressive ataxia, neuropathy and cataracts. Over 6 years, he developed dementia, kyphoscoliosis with worsening ataxia, and neuropathy. Read More

    Xanthomatized Neutrophilic Dermatosis in a Patient With Myelodysplastic Syndrome.
    Am J Dermatopathol 2016 Oct 18. Epub 2016 Oct 18.
    *Division of Dermatology, Department of Internal Medicine, The Ohio State University Wexner Medical Center, Gahanna, OH; and †Department of Pathology, University of Virgina, Charlottesville, VA.
    We present an original case report of a 58-year-old man with a history of histiocytoid Sweet and myelodysplastic syndrome who presented with a new onset of tender plaques on his oral commissures. A biopsy revealed a dense dermal neutrophilic infiltrate, leukocytoclasis without frank vasculitis, and, most notably, the presence of many xanthomatized cells. Clinical presentation and histologic features were most consistent with an acute neutrophilic dermatosis, which we believe to be a xanthomized variant of Sweet syndrome. Read More

    Periorbital Hyperpigmentation in Patients with Xanthelasma Palpebrarum: An Interesting Observation.
    J Clin Aesthet Dermatol 2016 Apr 1;9(4):52-54. Epub 2016 Apr 1.
    Department of Dermatology and Venereology, Andreas Sygros Skin Hospital, Athens, Greece.
    Background: Xanthelasma palpebrarum refers to xanthomas that occur more often near the inner canthus of the eyelid. Periorbital hyperpigmentation presents as a dark area surrounding the eyelids. Objective: In the present study, the authors examined the prevalence and the associated factors of periorbital hyperpigmentation among patients with xanthelasma. Read More

    Non-gastric Gastrointestinal Xanthomas: Case Series and Literature Review.
    J Gastrointestin Liver Dis 2016 Sep;25(3):389-94
    Department of Gastroenterology, Hospital Clínico San Carlos, Madrid, Spain.
    Gastrointestinal xanthomas are infrequent non-neoplastic lesions characterized by the accumulation of foam cells in the lamina propria. They are commonly seen in association with dyslipidemia, chemotherapy or radiotherapy, and infections in immunosuppressed patients. However, no clear connection to hyperlipidemia has been found. Read More

    Tendon xanthomas: Not always familial hypercholesterolemia.
    J Clin Lipidol 2016 Sep-Oct;10(5):1262-5. Epub 2016 May 14.
    Department of Vascular Medicine, University Medical Center Utrecht, The Netherlands. Electronic address:
    Tendon xanthoma are most commonly associated with Familial Hypercholesterolemia, but the differential diagnosis includes sitosterolemia and cerebrotendinous xanthomatosis (CTX). The case presented here is of a 48-year old male with large tendon xanthomas attributable to CTX. CTX is a rare, recessive disorder caused by mutations in the CYP27A1 gene. Read More

    An unusual presentation of eruptive xanthoma: A case report and literature review.
    Medicine (Baltimore) 2016 Sep;95(37):e4866
    aDivision of Pulmonary and Critical Care Medicine bDepartment of Medicine, Bronx Lebanon Hospital Center, Affiliated with Icahn School of Medicine at Mount Sinai, NY, USA.
    Background: Eruptive xanthomas are benign skin lesions caused by localized deposition of lipids in the dermis. The lesions are generally caused by elevated levels of serum triglycerides that leak through the capillaries and are phagocytosed by macrophages in the dermis. Clinical manifestation varies from asymptomatic skin lesions to intense pruritus and tenderness. Read More

    An unusual cause of Achilles tendon xanthoma.
    J Clin Lipidol 2016 Jul-Aug;10(4):1040-4. Epub 2016 May 13.
    Department of Medical Biochemistry, Research Institute of McGill University Health Center (RI-MUHC), Centre for Translational Biology, Montreal, Quebec, Canada; Department of Experimental Medicine, McGill University, Montreal, Quebec, Canada; Hyperlipidemia and Atherosclerosis Research Group, Clinical Research Institute of Montreal (IRCM), Montreal, Quebec, Canada. Electronic address:
    Tendinous xanthomas are often thought to be pathognomonic for familial hypercholesterolemia. In this report, we present the case of a young man with a normal lipid profile and Achilles tendon xanthoma. Biochemical and genetic studies confirmed the diagnosis of cerebrotendinous xanthomatosis in this patient. Read More

    Type 1 hyperlipoproteinemia in a child with large homozygous deletion encompassing GPIHBP1.
    J Clin Lipidol 2016 Jul-Aug;10(4):1035-1039.e2. Epub 2016 Apr 11.
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, UT Southwestern Medical Center, Dallas, TX, USA. Electronic address:
    Type I hyperlipoproteinemia (T1HLP) usually presents with extreme hypertriglyceridemia, recurrent episodes of acute pancreatitis, lipemia retinalis, and cutaneous eruptive xanthomas. We report a unique 10-year-old male of Indian origin who presented in neonatal period with transient obstructive jaundice and xanthomas in the pancreas and kidneys. Serum triglycerides stabilized with extremely low-fat diet although he subsequently developed pancreatic atrophy. Read More

    Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations.
    J Clin Lipidol 2016 Jul-Aug;10(4):944-952.e1. Epub 2016 Apr 21.
    Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:
    Background: Homozygous familial hypercholesterolemia is a rare clinical phenotype with a variable expression, which is characterized by extremely elevated plasma low-density lipoprotein (LDL), tendon and skin xanthomas, and a progressive atherosclerosis. In 95% of patients, homozygous familial hypercholesterolemia is due to mutations in low-density lipoprotein receptor (LDLR) gene, which abolish (receptor-negative) or greatly reduce (receptor-defective) LDLR function.

    Objective: The objective of the study was the molecular and phenotypic characterization of 4 siblings with severe hypercholesterolemia. Read More

    [Opinion from physicians on the need for dyslipidemia screening in cardiovascular risk. Similarities and differences between primary care and other specialties. The DIANA study].
    Semergen 2016 Aug 16. Epub 2016 Aug 16.
    Centro de Salud Palleter , Castellón, España.
    Introduction: The clinical inertia in the screening and treatment of patients at high or very high cardiovascular risk leads to the failure to achieve LDLc targets in this population. The aim of the DIANA study was to determine the opinion of doctors about the screening for dyslipidaemia, the usual practice, and the differences between Primary Care physicians and other specialties.

    Material And Methods: A questionnaire, using the modified Delphi method, included four blocks on dyslipidemic patients with impaired glucose metabolism. Read More

    Tendons Involvement in Congenital Metabolic Disorders.
    Adv Exp Med Biol 2016 ;920:117-22
    Regenerative Medicine Laboratory, BioCruces Health Research Institute, Cruces University Hospital, 48903, Barakaldo, Spain.
    Congenital metabolic disorders are consequence of defects involving single genes that code for enzymes. Blocking metabolic pathways, the defect leads to the shortage of essential compounds, and/or to the accumulation of huge quantities of precursors, which interfere with normal functions. Only few of these diseases are characterized by a clinically significant tendon involvement. Read More

    Monoclonal gammopathy of cutaneous significance: review of a relevant concept.
    J Eur Acad Dermatol Venereol 2017 Jan 8;31(1):45-52. Epub 2016 Aug 8.
    Faculté de Médecine, Université de Strasbourg et Clinique Dermatologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
    Some dermatologic entities are strongly associated with the presence of a monoclonal gammopathy. They should be referred to as monoclonal gammopathy of cutaneous significance (MGCS). A short review of the main entities that fit into the spectrum of MGCS is provided. Read More

    Urinary Bladder Xanthoma - Is Immunohistochemistry Necessary?
    Urol Case Rep 2016 Sep 13;8:36-7. Epub 2016 Jul 13.
    Department of Urology, Apollo Hospitals, Mysore, Karnataka, India.
    Urinary Bladder Xanthomas (UBX) are non-neoplastic reactive tumor like process. Isolated UBX is rare with only around 15 cases reported (Yu, Patel, & Bonert, 2015). UBX are reported in older patients who present with non specific symptoms like UTI or hematuria. Read More

    Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia.
    Neurologia 2016 Jul 23. Epub 2016 Jul 23.
    Servicio de Neurología, Complexo Hospitalario Universitario, Santiago de Compostela, España. Electronic address:
    Introduction: Autosomal recessive spinocerebellar ataxia refers to a large group of diseases affecting the cerebellum and/or its connections, although they may also involve other regions of the nervous system. These diseases are accompanied by a wide range of systemic manifestations (cardiopathies, endocrinopathies, skeletal deformities, and skin abnormalities).

    Development: This study reviews current knowledge of the most common forms of autosomal recessive spinocerebellar ataxia in order to provide tips that may facilitate diagnosis. Read More

    [Analysis of a cerebrotendinous xanthomatosis case with mental retardation as the initial symptom].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016 Aug;33(4):476-80
    Graduate School, Anhui University of Chinese Medicine, Hefei, Anhui 230038, China; Institute of Neurology, Anhui University of Chinese Medicine, Hefei, Anhui 230061, China. Email:
    Objective: To analyze a case of cerebrotendinous xanthomatosis (CTX) with mental retardation as the initial neurological symptom.

    Methods: Medical imaging, histopathological assay and genetic testing were carried out to analyze the patient.

    Results: Neurological manifestations of the 27-year-old male patient were initiated by mental retardation and subsequently memory lapses, ataxia, spastic paraplegia and fuzzy language. Read More

    Liver transplantation for homozygote familial hypercholesterolemia: the only curative treatment.
    Pediatr Transplant 2016 Dec 20;20(8):1060-1064. Epub 2016 Jul 20.
    Department of General and Transplantation Surgery, University Hospital of the Istanbul Bilim University, Istanbul, Turkey.
    FH is an autosomal dominant genetic disorder characterized by increased TC and LDL level, which leads to xanthomas, atherosclerosis, and cardiac complications even in childhood. The treatment options are diet, medical treatment, lipid apheresis, and LT. The aim of our study was to analyze our data of patients with FH. Read More

    1 OF 110