987 results match your criteria Refsum Disease


Association of Homocysteine, Methionine, and MTHFR 677C>T Polymorphism With Rate of Cardiovascular Multimorbidity Development in Older Adults in Sweden.

JAMA Netw Open 2020 May 1;3(5):e205316. Epub 2020 May 1.

Aging Research Center, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Solna, Sweden.

Importance: Strong evidence links high total serum homocysteine (tHcy) and low methionine (Met) levels with higher risk of ischemic disease, but other cardiovascular (CV) diseases may also be associated with their pleiotropic effects.

Objectives: To investigate the association of serum concentrations of tHcy and Met with the rate of CV multimorbidity development in older adults and to explore the role of methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism in this association.

Design, Setting, And Participants: The Swedish National Study on Aging and Care in Kungsholmen is a cohort study of randomly selected individuals aged 60 years or older. Read More

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http://dx.doi.org/10.1001/jamanetworkopen.2020.5316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7240355PMC

Laparoscopy-assisted versus balloon enteroscopy-assisted ERCP after Roux-en-Y gastric bypass.

Endoscopy 2020 Apr 21. Epub 2020 Apr 21.

Clinical Effectiveness Research Group, Department of Health Management and Health Economics, University of Oslo, Oslo, Norway.

Background:  Patients who have undergone Roux-en-Y gastric bypass (RYGB) are at increased risk of biliary disease necessitating endoscopic retrograde cholangiopancreatography (ERCP). The most widely used approaches to perform ERCP after RYGB are laparoscopy-assisted ERCP (LA-ERCP) and balloon enteroscopy-assisted ERCP (BEA-ERCP). There are few studies comparing these procedures. Read More

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http://dx.doi.org/10.1055/a-1139-9313DOI Listing

Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease.

FEBS J 2020 Mar 11. Epub 2020 Mar 11.

Systems Medicine of Metabolism and Signalling, Laboratory of Paediatrics, University of Groningen, University Medical Centre Groningen, The Netherlands.

Refsum disease (RD) is an inborn error of metabolism that is characterised by a defect in peroxisomal α-oxidation of the branched-chain fatty acid phytanic acid. The disorder presents with late-onset progressive retinitis pigmentosa and polyneuropathy and can be diagnosed biochemically by elevated levels of phytanate in plasma and tissues of patients. To date, no cure exists for RD, but phytanate levels in patients can be reduced by plasmapheresis and a strict diet. Read More

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http://dx.doi.org/10.1111/febs.15292DOI Listing

Body mass index determines the response of plasma sulfur amino acids to methionine loading.

Biochimie 2020 Jun 5;173:107-113. Epub 2020 Mar 5.

Department of Pharmacology, University of Oxford, Oxford, UK; Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.

Evidence from human, animal and cellular studies suggests that high plasma total cysteine (tCys) is causally linked to human obesity, but determinants of population tCys variability are unknown. We hypothesized that tCys elevation in obesity may be mediated by an altered tCys response to intake of its precursor, methionine. We investigated whether BMI influences the change in plasma tCys, total homocysteine (tHcy) and total cysteinylglycine (tCysGly) 6h following a 100 mg/kg oral methionine load in 800 healthy subjects and 750 cardiovascular disease (CVD) cases. Read More

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http://dx.doi.org/10.1016/j.biochi.2020.03.001DOI Listing

Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome.

J Peripher Nerv Syst 2020 Jun 24;25(2):112-116. Epub 2020 Feb 24.

Department of Neurology, University Hospital Essen, Essen, Germany.

PHARC syndrome is a rare neurodegenerative disorder caused by mutations in the ABHD12 gene. It is a genetically heterogeneous and clinically variable disease, which is characterized by demyelinating polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa, and early-onset cataract and can easily be misdiagnosed as other neurologic disorders with a similar clinical picture, such as Charcot-Marie-Tooth disease and Refsum disease. We describe the genotype-phenotype correlation of two siblings with a novel genotype underlying PHARC syndrome. Read More

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http://dx.doi.org/10.1111/jns.12367DOI Listing

Use of electron microscopy when screening liver biopsies from neonates and infants: experience from a single tertiary children's hospital (1991-2017).

Ultrastruct Pathol 2020 Jan 3;44(1):32-41. Epub 2020 Jan 3.

Genetics Division, Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

: Although the role of electron microscopy is diminishing in several areas of adult pathology, it remains an essential tool for the study of pediatric liver biopsies.: Clinical charts, histologic slides and EM materials of native liver biopsies from patients <1 year old (1991-2017) were reviewed.: 677 biopsies were performed on 353 males and 324 females. Read More

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http://dx.doi.org/10.1080/01913123.2019.1709934DOI Listing
January 2020

[Screening for ocular involvement in deaf children].

Pan Afr Med J 2019 5;33:174. Epub 2019 Jul 5.

Service d'Ophtalmologie, CHU Mohammed VI, Marrakech, Maroc.

The association between deafness and visual disorders is frequent. These disorders range from simple refractive disorder to severe disease that can lead to disability. Hence the interest of early screening. Read More

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http://dx.doi.org/10.11604/pamj.2019.33.174.17771DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6756820PMC
October 2019
1 Read

Creatinine, total cysteine and uric acid are associated with serum retinol in patients with cardiovascular disease.

Eur J Nutr 2019 Sep 9. Epub 2019 Sep 9.

Centre for Nutrition, Department of Clinical Science, University of Bergen, Haukelandsbakken, 5009, Bergen, Norway.

Purpose: We hypothesized that biomarkers and dietary factors related to cardiovascular disease risk were associated with serum retinol and evaluated these potential associations in patients with suspected coronary artery disease (CAD).

Methods: We used cross-sectional data from 4116 patients hospitalised for suspected CAD. Dietary data were obtained from a subgroup of 1962 patients using a food frequency questionnaire. Read More

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http://dx.doi.org/10.1007/s00394-019-02086-2DOI Listing
September 2019
2 Reads

Association of Methionine to Homocysteine Status With Brain Magnetic Resonance Imaging Measures and Risk of Dementia.

JAMA Psychiatry 2019 Jul 24. Epub 2019 Jul 24.

Aging Research Center, Karolinska Institute, Stockholm, Sweden.

Importance: Impairment of methylation status (ie, methionine to homocysteine ratio) may be a modifiable risk factor for structural brain changes and incident dementia.

Objective: To investigate the association of serum markers of methylation status and sulfur amino acids with risk of incident dementia, Alzheimer disease (AD), and the rate of total brain tissue volume loss during 6 years.

Design, Setting, And Participants: This population-based longitudinal study was performed from March 21, 2001, to October 10, 2010, in a sample of 2570 individuals aged 60 to 102 years from the Swedish Study on Aging and Care in Kungsholmen who were dementia free at baseline and underwent comprehensive examinations and structural brain magnetic resonance imaging (MRI) on 2 to 3 occasions during 6 years. Read More

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http://dx.doi.org/10.1001/jamapsychiatry.2019.1694DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659152PMC
July 2019
5 Reads

Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother.

JIMD Rep 2019 Mar 14;46(1):11-15. Epub 2019 Mar 14.

Laboratoire de Biochimie Métabolique Centre de Référence en Maladies Héréditaires du Métabolisme, Institut Fédératif de Biologie, CHU de Toulouse Toulouse France.

We describe the case of a young woman, from a consanguineous family, affected by adult Refsum disease (ARD, OMIM#266500). ARD is a rare peroxisomal autosomal recessive disease due to deficient alpha-oxidation of phytanic acid (PA), a branched-chain fatty acid. The accumulation of PA in organs is thought to be responsible for disease symptoms. Read More

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http://dx.doi.org/10.1002/jmd2.12020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498833PMC
March 2019
5 Reads

Glutathione Serum Levels and Rate of Multimorbidity Development in Older Adults.

J Gerontol A Biol Sci Med Sci 2020 May;75(6):1089-1094

Aging Research Center, NVS Department, Karolinska Institutet, Stockholm University, Sweden.

We aimed to investigate the association between baseline levels of total serum glutathione (tGSH) and rate of chronic disease accumulation over time. The study population (n = 2,596) was derived from a population-based longitudinal study on ≥60-year-olds living in Stockholm. Participants were clinically assessed at baseline, 3- and 6-year follow-ups. Read More

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http://dx.doi.org/10.1093/gerona/glz101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7243585PMC
May 2020
14 Reads

Homocysteine Status Modifies the Treatment Effect of Omega-3 Fatty Acids on Cognition in a Randomized Clinical Trial in Mild to Moderate Alzheimer's Disease: The OmegAD Study.

J Alzheimers Dis 2019 ;69(1):189-197

Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Huddinge, Sweden.

Background: Trials of supplementation with omega-3 fatty acids (ω3-FAs) in patients with mild cognitive impairment or Alzheimer's disease (AD) have produced inconsistent effects on cognitive decline. There is evidence of an interaction between B vitamin status and ω3-FAs in relation to brain atrophy and cognitive decline.

Objective: We investigated whether baseline levels of plasma total homocysteine (tHcy), a marker of B vitamin status, modify the effects of ω3-FAs supplementation on cognitive performance in moderate AD. Read More

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http://dx.doi.org/10.3233/JAD-181148DOI Listing
January 2019
9 Reads
4.151 Impact Factor

The kynurenine pathway and cognitive performance in community-dwelling older adults. The Hordaland Health Study.

Brain Behav Immun 2019 01 25;75:155-162. Epub 2018 Oct 25.

Department of Internal Medicine, Haraldsplass Deaconess Hospital, Bergen, Norway; Institute of Clinical Science, University of Bergen, Norway.

Introduction: Tryptophan, its downstream metabolites in the kynurenine pathway and neopterin have been associated with inflammation and dementia. We aimed to study the associations between plasma levels of these metabolites and cognitive function in community-dwelling, older adults.

Methods: This cross-sectional study included 2174 participants aged 70-72 years of the community-based Hordaland Health Study. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08891591183074
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http://dx.doi.org/10.1016/j.bbi.2018.10.003DOI Listing
January 2019
37 Reads

Inborn Errors of Metabolism: Refsum Disease.

Adv Exp Med Biol 2018;1085:191-192

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

Patient with Refsum disease present with nyctalopia, and the fundus shows progressive panretinal degeneration. Vision gradually decreases, with progressive peripheral constriction. The pupil usually does not dilate well. Read More

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http://link.springer.com/10.1007/978-3-319-95046-4_39
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http://dx.doi.org/10.1007/978-3-319-95046-4_39DOI Listing
July 2019
27 Reads

Peroxisomes and Their Central Role in Metabolic Interaction Networks in Humans.

Subcell Biochem 2018;89:345-365

Laboratory Genetic Metabolic Diseases, Departments Clinical Chemistry and Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

Peroxisomes catalyze a number of essential metabolic functions and impairments in any of these are usually associated with major clinical signs and symptoms. In contrast to mitochondria which are autonomous organelles that can catalyze the degradation of fatty acids, certain amino acids and other compounds all by themselves, peroxisomes are non-autonomous organelles which are highly dependent on the interaction with other organelles and compartments to fulfill their role in metabolism. This includes mitochondria, the endoplasmic reticulum, lysosomes, and the cytosol. Read More

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http://link.springer.com/10.1007/978-981-13-2233-4_15
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http://dx.doi.org/10.1007/978-981-13-2233-4_15DOI Listing
June 2019
9 Reads

Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders.

J Biochem 2019 Jan;165(1):67-73

Biochemical Genetics, Sandor Life Sciences Pvt Ltd, Banjara Hills, Road No: 3, Hyderabad, India.

We have established diagnostic thresholds of very long-chain fatty acids (VLCFA) for the differential diagnosis of peroxisomal disorders using the machine learning tools. The plasma samples of 131 controls and 90 cases were tested for VLCFA using gas chromatography-mass spectrometry following stable isotope dilution. These data were used to construct association rules and for recursive partitioning. Read More

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http://fdslive.oup.com/www.oup.com/pdf/production_in_progres
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http://dx.doi.org/10.1093/jb/mvy085DOI Listing
January 2019
12 Reads

An overview of epidermal lamellar bodies: Novel roles in biological adaptations and secondary barriers.

J Dermatol Sci 2018 Oct 8;92(1):10-17. Epub 2018 Mar 8.

Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, South Korea.

The epidermal lamellar bodies (LBs) are specialized organelles that contain pro-barrier lipids imparting a fully lamellar internal structure, but also other cargoes such as enzymes (lipid metabolizing and proteolytic), enzyme inhibitors, and antimicrobial peptides. Thus, the LB secretory system, by virtue of delivering these cargoes to the stratum corneum (SC) interstices, is essential for forming the various skin barriers located in the SC. Ultrastructural studies have suggested that the morphologic features of LBs reflect the functional status of the SC. Read More

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http://dx.doi.org/10.1016/j.jdermsci.2018.03.005DOI Listing
October 2018
5 Reads

The risk association of plasma total homocysteine with acute myocardial infarction is modified by serum vitamin A.

Eur J Prev Cardiol 2018 10 17;25(15):1612-1620. Epub 2018 Jul 17.

2 Department of Heart Disease, Haukeland University Hospital, Bergen, Norway.

Background Plasma total homocysteine (tHcy) has been implicated in the development of cardiovascular disease, but the mechanisms remain unclear. Vitamin A (Vit-A) is involved in homocysteine metabolism and we therefore explored the potential interaction between plasma tHcy and serum Vit-A in relation to incident acute myocardial infarction. Methods Cox proportional hazards models were used to assess the prospective relationships between tHcy and acute myocardial infarction in 2205 patients from Western Norway undergoing elective coronary angiography for suspected stable angina pectoris. Read More

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http://dx.doi.org/10.1177/2047487318788587DOI Listing
October 2018
36 Reads

Laboratory investigations.

Handb Clin Neurol 2018 ;154:287-298

Department of Pediatric Neurology, University Children's Hospital, University of Zurich, Zurich, Switzerland; Departments of Neurology and Ophthalmology, University Hospital Zurich, University of Zurich, Switzerland.

This chapter deals with chemical and hematologic investigations which are often considered in the diagnostic workup of subacute to chronic cerebellar ataxias. Relevant investigations in blood (serum, plasma), urine, and cerebrospinal fluid are discussed. Particular attention is paid to early diagnosis of treatable metabolic ataxias (such as abetalipoproteinemia, coenzyme Q10 deficiency, cerebrotendinous xanthomatosis, glucose transporter type 1 deficiency, Refsum disease, and vitamin E deficiency), but autoimmune ataxias, other vitamin deficiencies, and endocrine disorders should also be kept in mind. Read More

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https://linkinghub.elsevier.com/retrieve/pii/B97804446395610
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http://dx.doi.org/10.1016/B978-0-444-63956-1.00017-5DOI Listing
September 2018
47 Reads

A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D.

J Clin Neurosci 2018 Jul 30;53:231-234. Epub 2018 Apr 30.

Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases, Beijing 100050, China. Electronic address:

Charcot-Marie-Tooth disease 4D (CMT4D) is characterized by severe peripheral neuropathy and deafness. It is caused by mutations in the N-myc downstream-regulated gene 1 (NDRG1). We report a Chinese man with a homozygous mutation c. Read More

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http://dx.doi.org/10.1016/j.jocn.2018.04.024DOI Listing
July 2018
8 Reads

Current and Promising Therapies in Autosomal Recessive Ataxias.

CNS Neurol Disord Drug Targets 2018 ;17(3):161-171

Department of Medicine, Faculty of Medicine, Laval University and CHU de Quebec-Laval University, Axe Neurosciences, 1401, 18th Street, Quebec, QC, Canada.

Background & Objective: Ataxia is clinically characterized by unsteady gait and imbalance. Cerebellar disorders may arise from many causes such as metabolic diseases, stroke or genetic mutations. The genetic causes are classified by mode of inheritance and include autosomal dominant, X-linked and autosomal recessive ataxias. Read More

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http://dx.doi.org/10.2174/1871527317666180419115029DOI Listing
July 2019
13 Reads

Reversible vestibular neuropathy in adult Refsum disease.

Neurology 2018 05 6;90(19):890-892. Epub 2018 Apr 6.

From the Institute of Clinical Neurosciences (R.L.T., S.K.J., A.S.Y., G.M.H., M.S.W.) and Department of Clinical Biochemistry (D.S.), Royal Prince Alfred Hospital, and Faculty of Medicine (D.S.), Central Clinical School, University of Sydney; and The Balance Clinic and Laboratory (A.S.Y., M.S.W.), Sydney, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000005472DOI Listing
May 2018
9 Reads

Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease).

Ultrastruct Pathol 2018 May-Jun;42(3):220-227. Epub 2018 Feb 26.

c Genetics Division, Department of Pediatrics, Keck School of Medicine , University of Southern California , Los Angeles , California , USA.

Zellweger spectrum disorders (ZSD) are rare autosomal recessive inherited metabolic disorders and include severe (Zellweger syndrome) and milder phenotypes [neonatal adrenoleukodystrophy and infantile Refsum disease (IRD)]. ZSD are characterized by impaired peroxisomal functions and lack of peroxisomes detected by electron microscopy (EM). ZSD are caused by mutations in any of the 14 PEX genes. Read More

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http://dx.doi.org/10.1080/01913123.2018.1440272DOI Listing
October 2018
31 Reads

Homocysteine and Dementia: An International Consensus Statement.

J Alzheimers Dis 2018 ;62(2):561-570

Department of Clinical Chemistry and Laboratory Medicine, University Hospital of the Saarland, Germany.

Identification of modifiable risk factors provides a crucial approach to the prevention of dementia. Nutritional or nutrient-dependent risk factors are especially important because dietary modifications or use of dietary supplements may lower the risk factor level. One such risk factor is a raised concentration of the biomarker plasma total homocysteine, which reflects the functional status of three B vitamins (folate, vitamins B12, B6). Read More

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http://dx.doi.org/10.3233/JAD-171042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836397PMC
February 2019
11 Reads

Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up.

Pediatr Transplant 2018 05 16;22(3):e13112. Epub 2018 Feb 16.

Service de Gastro-Entérologie et Hépatologie Pédiatrique, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

Mild Zellweger spectrum disorder, also described as Infantile Refsum disease, is attributable to mutations in PEX genes. Its clinical course is characterized by progressive hearing and vision loss, and neurodevelopmental regression. Supportive management is currently considered the standard of care, as no treatment has shown clinical benefits. Read More

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http://dx.doi.org/10.1111/petr.13112DOI Listing
May 2018
13 Reads

Lipidomic Analysis: From Archaea to Mammals.

Lipids 2018 01 15;53(1):5-25. Epub 2018 Feb 15.

Institute of Microbiology, Academy of Sciences of the Czech Republic, Vídeňská 1083, Prague, 142 20, Czech Republic.

Lipids are among the most important organic compounds found in all living cells, from primitive archaebacteria to flowering plants or mammalian cells. They form part of cell walls and constitute cell storage material. Their biosynthesis and metabolism play key roles in faraway topics such as biofuel production (third-generation biofuels produced by microorganisms, e. Read More

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http://dx.doi.org/10.1002/lipd.12001DOI Listing
January 2018
7 Reads

Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.

J Pediatr Genet 2018 Mar 4;7(1):1-8. Epub 2018 Jan 4.

Department of Otolaryngology - Head and Neck Surgery, Indiana University School of Medicine, Indianapolis, Indiana, United States.

Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF. Read More

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http://dx.doi.org/10.1055/s-0037-1617454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809162PMC
March 2018
8 Reads

Cataract surgery outcomes and complications in retinal dystrophy patients.

Can J Ophthalmol 2017 Dec 22;52(6):543-547. Epub 2017 Jul 22.

Cornea and Refractive Surgery Service, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA.

Objective: To investigate intraoperative complications, postoperative findings, and visual acuity outcomes in patients with retinal dystrophy after cataract surgery.

Design: Retrospective chart review at an academic tertiary referral centre.

Participants: Thirty eyes from 18 patients with retinitis pigmentosa and other retinal dystrophies (Usher syndrome, Refsum disease, and Leber congenital amaurosis) who underwent cataract surgery were identified by searching the electronic medical record system from January 2010 to September 2015 for all patients treated by a single physician with billing codes for retinal dystrophy and cataract surgery. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00084182163102
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http://dx.doi.org/10.1016/j.jcjo.2017.04.002DOI Listing
December 2017
39 Reads

The relation of CUN-BAE index and BMI with body fat, cardiovascular events and diabetes during a 6-year follow-up: the Hordaland Health Study.

Clin Epidemiol 2017 8;9:555-566. Epub 2017 Nov 8.

Department of Pharmacology, University of Oxford, Oxford, UK.

Objective: We compared Clínica Universidad de Navarra-Body Adiposity Estimator (CUN-BAE) and body mass index (BMI) as correlates of body fat percent (BF%) and the association with future risk of cardiovascular disease (CVD) and type 2 diabetes in a Caucasian population.

Methods: We used data from 6796 individuals (born 1925-27 and 1950-52) from the Hordaland Health Study, a prospective cohort study in Norway. The study was conducted in 1992-1993 and 1997-1999. Read More

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http://dx.doi.org/10.2147/CLEP.S145130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685095PMC
November 2017
7 Reads

Dementia Prevention by Disease-Modification through Nutrition.

Authors:
A D Smith H Refsum

J Prev Alzheimers Dis 2017;4(3):138-139

Prof. A. David Smith, Department of Pharmacology, Mansfield Rd. Oxford OX1 3QT. Tel: +44-1865-271617; Fax: +44-1865-271853. Email:

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http://dx.doi.org/10.14283/jpad.2017.16DOI Listing
August 2019
7 Reads

Phytyl fatty acid esters in vegetables pose a risk for patients suffering from Refsum's disease.

PLoS One 2017 13;12(11):e0188035. Epub 2017 Nov 13.

Institute of Food Chemistry, University of Hohenheim, Stuttgart, Germany.

Patients suffering from Refsum's disease show mutations in the enzyme necessary for the degradation of phytanic acid. Accumulation of this tetramethyl-branched fatty acid in inner organs leads to severe neurological and cardiac dysfunctions which can even result in death. Thus, patients with Refsum's disease have to follow a specific diet resigning foods with high levels of phytanic acid and trans-phytol like products from ruminant animals with a tolerable daily intake (TDI) of ≤ 10 mg/d. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0188035PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5683611PMC
December 2017
11 Reads

Kynurenine Pathway Metabolites in Alzheimer's Disease.

J Alzheimers Dis 2017 ;60(2):495-504

Department of Clinical Science, University of Bergen, Norway.

Background: Metabolites of tryptophan, produced via the kynurenine pathway (kynurenines), have been linked to Alzheimer's disease (AD) in small cohorts with conflicting results.

Objective: To compare differences in plasma kynurenine levels between AD and controls and identify potential associations with cognition.

Methods: The study included 65 histopathologically-confirmed AD patients and 65 cognitively-screened controls from the Oxford Project to Investigate Memory and Ageing (OPTIMA) cohort. Read More

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http://dx.doi.org/10.3233/JAD-170485DOI Listing
April 2018
58 Reads

Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D.

Hum Mutat 2017 11 23;38(11):1569-1578. Epub 2017 Aug 23.

Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and the Collaborative Innovation Center for Brain Science, Zhejiang University School of Medicine, Hangzhou, China.

Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal-recessive demyelinating form of CMT characterized by a severe distal motor and sensory neuropathy. NDRG1 is the causative gene for CMT4D. To date, only four mutations in NDRG1 -c. Read More

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http://dx.doi.org/10.1002/humu.23309DOI Listing
November 2017
4 Reads

Cardiovascular disease risk associated with serum apolipoprotein B is modified by serum vitamin A.

Atherosclerosis 2017 10 21;265:325-330. Epub 2017 Jul 21.

Department of Heart Disease, Haukeland University Hospital, 5021 Bergen, Norway; KG Jebsen Centre for Diabetes Research, University of Bergen, 5009 Bergen, Norway; Department of Clinical Science, Faculty of Medicine, University of Bergen, 5021 Bergen, Norway.

Background And Aims: Apolipoproteins B (apoB) and A1 (apoA1) are major protein constituents of low-density and high-density lipoproteins, respectively, and serum concentrations of these apolipoproteins are associated with risk of atherosclerosis. Vitamin A (VA) has been implicated in lipoprotein metabolism. We evaluated the associations of serum apoB, apoA1 and their ratio (apoBAR) with risk of incident acute myocardial infarction (AMI) and the possible modification by serum VA. Read More

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http://dx.doi.org/10.1016/j.atherosclerosis.2017.07.020DOI Listing
October 2017
18 Reads

Unplanned readmission and outpatient examination 90-days after acute appendectomy in adults.

Am J Surg 2018 08 21;216(2):217-221. Epub 2017 Jul 21.

Department of Gastrointestinal Surgery, Diakonhjemmet Hospital, Oslo, Norway; Department of Gastrointestinal and Hepato-Pancreato-Biliary Surgery, Oslo University Hospital, Rikshospitalet, Oslo, Norway. Electronic address:

Background: The aim of this study was to determine the frequency and indications for unplanned readmission and outpatient examination after acute appendectomy.

Methods: Adults who underwent acute appendectomy from 2008-2013 were included in the study and events occurring within 90-days from discharge recorded.

Results: A total of 710 patients underwent surgery. Read More

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http://dx.doi.org/10.1016/j.amjsurg.2017.07.020DOI Listing
August 2018
3 Reads

Cochlear Implantation in Siblings With Refsum's Disease.

Ann Otol Rhinol Laryngol 2017 Aug 6;126(8):611-614. Epub 2017 Jul 6.

1 Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Essen, Essen, Germany.

Objectives: Whether the origin of severe hearing loss in Refsum's syndrome is caused by cochlear impairment or retrocochlear degeneration remains unclear. This case report aims to investigate hearing performance before and after cochlear implantation to shed light on this question. Also, identification of new mutations causing Refsum's syndrome would be helpful in generating additional means of diagnosis. Read More

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http://dx.doi.org/10.1177/0003489417717269DOI Listing
August 2017
71 Reads

Phytol-induced pathology in 2-hydroxyacyl-CoA lyase (HACL1) deficient mice. Evidence for a second non-HACL1-related lyase.

Biochim Biophys Acta Mol Cell Biol Lipids 2017 Sep 17;1862(9):972-990. Epub 2017 Jun 17.

LIPIT, Department of Cellular and Molecular Medicine, KU Leuven, Belgium. Electronic address:

2-Hydroxyacyl-CoA lyase (HACL1) is a key enzyme of the peroxisomal α-oxidation of phytanic acid. To better understand its role in health and disease, a mouse model lacking HACL1 was investigated. Under normal conditions, these mice did not display a particular phenotype. Read More

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http://dx.doi.org/10.1016/j.bbalip.2017.06.004DOI Listing
September 2017
21 Reads
5.162 Impact Factor

Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders.

Mol Genet Metab 2017 07 6;121(3):279-282. Epub 2017 May 6.

Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, 1105, AZ, The Netherlands.

Phytanic acid is a branched-chain fatty acid, the level of which is elevated in patients with a variety of peroxisomal disorders, including Refsum disease, and Rhizomelic chondrodysplasia punctata type 1 and 5. Elevated levels of both phytanic and pristanic acid are found in patients with Zellweger Spectrum Disorders, and pristanic acid is elevated in patients with α-methylacyl-CoA racemase deficiency. For the diagnosis of peroxisomal disorders, a variety of metabolites can be measured in blood samples from suspected patients, including very long-chain fatty acids, phytanic and pristanic acid. Read More

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http://dx.doi.org/10.1016/j.ymgme.2017.05.003DOI Listing
July 2017
14 Reads

Spectral Domain Optical Coherence Tomography (SD-OCT) Findings in Refsum's Disease.

Klin Monbl Augenheilkd 2017 04 3;234(4):527-529. Epub 2017 May 3.

Augenzentrum Pallas Kliniken, Olten/Switzerland (Director: Prof. Dr. Heinrich Gerding F. E. B. O.).

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http://dx.doi.org/10.1055/s-0043-104427DOI Listing
April 2017
23 Reads

Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

Methods Mol Biol 2017 ;1595:329-342

Department Paediatric Neurology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands.

The peroxisomal disorders (PDs) are a heterogeneous group of genetic diseases in man caused by an impairment in peroxisome biogenesis or one of the metabolic functions of peroxisomes. Thanks to the revolutionary technical developments in gene sequencing methods and their increased use in patient diagnosis, the field of genetic diseases in general and peroxisomal disorders in particular has dramatically changed in the last few years. Indeed, several novel peroxisomal disorders have been identified recently and in addition it has been realized that the phenotypic spectrum of patients affected by a PD keeps widening, which makes clinical recognition of peroxisomal patients increasingly difficult. Read More

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http://dx.doi.org/10.1007/978-1-4939-6937-1_30DOI Listing
May 2017
42 Reads

Recent advances in liver transplantation for metabolic disease.

Authors:
P J Mc Kiernan

J Inherit Metab Dis 2017 07 6;40(4):491-495. Epub 2017 Feb 6.

Division of Gastroenterology/Hepatology/Nutrition Children's Hospital of Pittsburgh of UPMC, Pittsburgh Liver Research Centre, University of Pitttsburgh, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA.

The indications and outcomes of liver transplantation for metabolic disease have been reviewed recently and this short review concentrates on recent developments and advances. Recently recognized metabolic causes of acute liver failure are reviewed and their implications for transplantation discussed. Newly described indications for liver transplantation in systemic metabolic diseases are described and an update is given on the role of auxiliary and domino liver transplantation. Read More

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http://dx.doi.org/10.1007/s10545-017-0020-zDOI Listing
July 2017
4 Reads

HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.

J Hum Genet 2017 Mar 22;62(3):431-435. Epub 2016 Dec 22.

Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.

Hereditary motor and sensory neuropathy-type Lom (HMSNL), also known as CMT4D, a demyelinating neuropathy with late-onset deafness is an autosomal recessive disorder threatening Roma population worldwide. The clinical phenotype was reported in several case reports before the gene discovery. HMSNL is caused by a homozygous founder mutation p. Read More

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http://dx.doi.org/10.1038/jhg.2016.148DOI Listing
March 2017
50 Reads

A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.

J Peripher Nerv Syst 2017 03;22(1):47-50

Unit of Rare Neurological Diseases of Adulthood, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.

Charcot-Marie-Tooth disease type 4D (CMT4D), also known as hereditary motor and sensory neuropathy Lom type (HMSNL), is an autosomal recessive, early onset, severe demyelinating neuropathy with hearing loss, caused by N-Myc downstream-regulated gene 1 (NDRG1) mutations. CMT4D is rare with only three known mutations, one of which (p.Arg148Ter) is found in patients of Romani ancestry and accounts for the vast majority of cases. Read More

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http://doi.wiley.com/10.1111/jns.12201
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http://dx.doi.org/10.1111/jns.12201DOI Listing
March 2017
36 Reads

Phytanic acid consumption and human health, risks, benefits and future trends: A review.

Food Chem 2017 Apr 18;221:237-247. Epub 2016 Oct 18.

Departamento de Quimica Analitica, Nutricion y Bromatologia, Facultad de Veterinaria, Universidade de Santiago de Compostela, Pabellón 4, Planta Baja, 27002 Lugo, Spain.

Phytanic acid is a methyl-branched fatty acid present in the human diet, derived from the enzymatic degradation of phytol and subsequently oxidized by the rumenal microbiota and certain marine organisms. Consequently, phytanic acid is carried into the human body by means of food ingestion, mostly via red meat, dairy products and fatty marine foods. This fatty acid accumulates in people with some peroxisomal disorders and is traditionally related to neurological damage. Read More

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http://dx.doi.org/10.1016/j.foodchem.2016.10.074DOI Listing
April 2017
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Phytanic acid attenuates insulin-like growth factor-1 activity via nitric oxide-mediated γ-secretase activation in rat aortic smooth muscle cells: possible implications for pathogenesis of infantile Refsum disease.

Pediatr Res 2017 03 25;81(3):531-536. Epub 2016 Nov 25.

Department of Pharmacology and Toxicology, Faculty of Medicine, Kuwait University, Kuwait.

Background: Infantile Refsum disease (IRD), a peroxisomal disease with defective phytanic acid oxidation, causes neurological impairment and development delay. Insulin-like growth factor-1 (IGF-1) regulates child development and to understand molecular mechanism(s) of IRD, we examined the effect of phytanic acid (PA) on IGF-1 activity.

Methods: Bromodeoxyuridine (BrdU) incorporation was measured in rat aortic smooth muscle cell (SMC) cultures following treatment with fetal bovine serum (FBS), basic fibroblast growth factor (bFGF), platelet-derived growth factor (PDGF) or IGF-1 in the absence or presence of PA. Read More

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http://www.nature.com/articles/pr2016258
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http://dx.doi.org/10.1038/pr.2016.258DOI Listing
March 2017
10 Reads

Lipid profiles in schizophrenia associated with clinical traits: a five year follow-up study.

BMC Psychiatry 2016 08 25;16:299. Epub 2016 Aug 25.

NORMENT, KG Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

Background: Alterations in serum and membrane lipids may be involved in schizophrenia pathophysiology. It is not known whether lipid profiles are associated with disease severity or current symptom level.

Methods: Clinical and lipid data were gathered from 55 patients with schizophrenia admitted to psychiatric emergency wards in an acute stage of the disease (T1). Read More

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http://dx.doi.org/10.1186/s12888-016-1006-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5000423PMC
August 2016
21 Reads

Understanding the Relationship Between Teacher Behavior and Motivation in Students with Acquired Deafblindness.

Am Ann Deaf 2016 ;161(3):314-26

Because little is known about teacher-student relationships that involve students with acquired deafblindness, the authors performed a multiple case study with a multiple-method design to investigate the relationship between need-supportive teaching behaviors and student engagement. Using self-determination theory (Deci & Ryan, 2000), they analyzed video observations of interactions. It was found that teachers' provision of structure, autonomy support, and involvement often cooccurs with higher levels of student engagement. Read More

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https://muse.jhu.edu/article/627248
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http://dx.doi.org/10.1353/aad.2016.0024DOI Listing
August 2017
13 Reads

Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia.

Authors:
M Arias

Neurologia 2019 May 25;34(4):248-258. Epub 2016 Jul 25.

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

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http://dx.doi.org/10.1016/j.nrl.2016.06.006DOI Listing
May 2019
7 Reads