1,009 results match your criteria Refsum Disease

Inflammatory bowel disease and risk of adenocarcinoma and neuroendocrine tumors in the small bowel.

Ann Oncol 2022 Jun 8;33(6):649-656. Epub 2022 Mar 8.

Clinical Effectiveness Research Group, Department of Transplantation Medicine, Oslo University Hospital, Oslo, Norway; Clinical Effectiveness Group, Institute of Health and Society, University of Oslo, Oslo, Norway.

Background: Uncertainty prevails about the magnitude of excess risk of small bowel cancer in patients with inflammatory bowel disease (IBD).

Patients And Methods: To quantify the risk of small bowel adenocarcinoma and neuroendocrine tumors in patients with ulcerative colitis (UC) and Crohn's disease (CD), we undertook a population-based cohort study of all patients with IBD diagnosed in Norway and Sweden from 1987 to 2016. Patients were followed through linkage to national registers. Read More

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A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.

Neurol Sci 2022 Jul 11;43(7):4463-4472. Epub 2022 Feb 11.

Institute of Bioinformatics, International Technology Park, Bangalore, 560066, India.

Charcot-Marie-Tooth disease, type 4D (CMT4D) is a progressive, autosomal recessive form of CMT, characterized by distal muscle weakness and atrophy, foot deformities, severe motor sensory neuropathy, and sensorineural hearing impairment. Mutations in NDRG1 gene cause neuropathy in humans, dogs, and rodents. Here, we describe clinical and genetic features of a 17-year-old male with wasting of hand muscle and foot and severe motor neuropathy. Read More

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Risk of hepato-pancreato-biliary cancer is increased by primary sclerosing cholangitis in patients with inflammatory bowel disease: A population-based cohort study.

United European Gastroenterol J 2022 03 2;10(2):212-224. Epub 2022 Feb 2.

Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.

Background: There is continued uncertainty regarding the risks of hepato-pancreato-biliary cancers in patients with inflammatory bowel disease (IBD) with or without concomitant primary sclerosing cholangitis (PSC).

Objective: To give updated estimates on risk of hepato-pancreato-biliary cancers in patients with IBD, including pancreatic cancer, hepatocellular carcinoma, gall bladder cancer, and intra - and extrahepatic cholangiocarcinoma.

Methods: In a population-based cohort study, we included all patients diagnosed with IBD in Norway and Sweden from 1987 to 2016. Read More

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Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation.

Int J Mol Sci 2022 Jan 17;23(2). Epub 2022 Jan 17.

Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.

Peroxisomal fatty acid α-oxidation is an essential pathway for the degradation of β-carbon methylated fatty acids such as phytanic acid. One enzyme in this pathway is 2-hydroxyacyl CoA lyase (HACL1), which is responsible for the cleavage of 2-hydroxyphytanoyl-CoA into pristanal and formyl-CoA. Hacl1 deficient mice do not present with a severe phenotype, unlike mice deficient in other α-oxidation enzymes such as phytanoyl-CoA hydroxylase deficiency (Refsum disease) in which neuropathy and ataxia are present. Read More

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January 2022

Activation of a cGAS-STING-mediated immune response predicts response to neoadjuvant chemotherapy in early breast cancer.

Br J Cancer 2022 02 2;126(2):247-258. Epub 2021 Nov 2.

Patrick G Johnston Centre for Cancer Research, Queen's University Belfast, 97 Lisburn Road, Belfast, BT9 7AE, UK.

Background: The DNA-damage immune-response (DDIR) signature is an immune-driven gene expression signature retrospectively validated as predicting response to anthracycline-based therapy. This feasibility study prospectively evaluates the use of this assay to predict neoadjuvant chemotherapy response in early breast cancer.

Methods: This feasibility study assessed the integration of a novel biomarker into clinical workflows. Read More

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February 2022

Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid.

Case Rep Ophthalmol Med 2021 9;2021:1345937. Epub 2021 Oct 9.

UVA Health Department of Ophthalmology, Charlottesville, Virginia, USA.

Infantile Refsum disease is a rare peroxisomal biogenesis disorder characterized by impaired alpha-oxidation and accumulation of phytanic acid in the tissues. Patients often present with fundus changes resembling retinitis pigmentosa, developmental delay, sensorineural hearing loss, ataxia, and hepatomegaly. Traditionally, mainstay treatment for this condition has been a phytanic acid-restricted diet, although supplementation with either docosahexaenoic acid or cholic acid has rarely been described in the literature. Read More

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October 2021

Mortality in Norway and Sweden during the COVID-19 pandemic.

Scand J Public Health 2022 Feb 5;50(1):38-45. Epub 2021 Oct 5.

Clinical Effectiveness Research Group, Oslo University Hospital and University of Oslo, Norway.

Norway and Sweden are similar countries in terms of socioeconomics and health care. Norway implemented extensive COVID-19 measures, such as school closures and lockdowns, whereas Sweden did not. To compare mortality in Norway and Sweden, two similar countries with very different mitigation measures against COVID-19. Read More

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February 2022

Allogeneic Hematopoietic Stem Cell Transplantation for PEX1-Related Zellweger Spectrum Disorder: A Case Report and Literature Review.

Front Pediatr 2021 25;9:672187. Epub 2021 Aug 25.

Department of Hematology and Oncology, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.

Zellweger spectrum disorder (ZSD) is a heterogeneous group of autosomal recessive disorders characterized by a defect in peroxisome formation and attributable to mutations in the gene family. Patients with ZSD have profound neurologic impairments, including seizures, severe retardation, and dysmorphic features, and poor prognosis. Currently, there is no specific, effective treatment. Read More

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Cardiac Involvement in Movement Disorders.

Mov Disord Clin Pract 2021 Jul 7;8(5):651-668. Epub 2021 Apr 7.

Sección Movimientos Anormales, Departamento de Neurociencias Instituto de Investigaciones Neurológicas Raúl Carrea, Fleni Buenos Aires Argentina.

Background: Several conditions represented mainly by movement disorders are associated with cardiac disease, which can be overlooked in clinical practice in the context of a prominent primary neurological disorder.

Objectives: To review neurological conditions that combine movement disorders and primary cardiac involvement.

Methods: A comprehensive and structured literature search following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses criteria was conducted to identify disorders combining movement disorders and cardiac disease. Read More

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Changes in plasma fatty acids and related biomarkers during transition to an exclusively plant- and fish-based diet in healthy adults.

Nutrition 2021 10 1;90:111306. Epub 2021 May 1.

Department of Physiology, Faculty of Medicine, University of Alexandria, Alexandria, Egypt; Department of Pharmacology, University of Oxford, Oxford, UK.

Objective: The aim of this study was to examine the time scale of plasma fatty acid changes during transition to an exclusively plant- and fish-based diet in healthy individuals and determine whether there are associated alterations in arachidonic acid (ARA)-derived inflammatory mediators, estimated stearoyl coenzyme A desaturase (SCD) activity, and blood pressure.

Methods: In pursuit of a religious fast, 36 adults abstained  from eating poultry, meat, dairy products, and eggs, while increasing fish intake for 6 wk. Participants were assessed 1 wk before (W0) and 1 (W1) and 6 (W6) weeks after the diet change. Read More

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October 2021

How the brain fights fatty acids' toxicity.

Neurochem Int 2021 09 1;148:105050. Epub 2021 May 1.

Institut für Inflammation und Neurodegeneration (Neurobiochemie), Medizinische Fakultät, Otto-von-Guericke-Universität Magdeburg, Leipziger Straße 44, D-39120, Magdeburg, Germany. Electronic address:

Neurons spurn hydrogen-rich fatty acids for energizing oxidative ATP synthesis, contrary to other cells. This feature has been mainly attributed to a lower yield of ATP per reduced oxygen, as compared to glucose. Moreover, the use of fatty acids as hydrogen donor is accompanied by severe β-oxidation-associated ROS generation. Read More

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September 2021

Paraoxonase 1, B Vitamins Supplementation, and Mild Cognitive Impairment.

J Alzheimers Dis 2021 ;81(3):1211-1229

Department of Biochemistry and Biotechnology, Poznań University of Life Sciences, Poznań, Poland.

Background: Identification of modifiable risk factors that affect cognitive decline is important for the development of preventive and treatment strategies. Status of paraoxonase 1 (PON1), a high-density lipoprotein-associated enzyme, may play a role in the development of neurological diseases, including Alzheimer's disease.

Objective: We tested a hypothesis that PON1 status predicts cognition in individuals with mild cognitive impairment (MCI). Read More

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September 2021

Anti--homocysteine-protein autoantibodies are associated with impaired cognition.

Alzheimers Dement (N Y) 2021 31;7(1):e12159. Epub 2021 Mar 31.

Department of Biochemistry and Biotechnology Poznań University of Life Sciences Poznań Poland.

Introduction: Elevated homocysteine (Hcy) and related metabolites accelerate Alzheimer's disease. Hcy-lowering B vitamins slow brain atrophy/cognitive decline in mild cognitive impairment (MCI). Modification with Hcy-thiolactone generates auto-immunogenic -Hcy-protein. Read More

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Homocysteine - from disease biomarker to disease prevention.

A D Smith H Refsum

J Intern Med 2021 10 6;290(4):826-854. Epub 2021 Apr 6.

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

We have reviewed the literature and have identified more than 100 diseases or conditions that are associated with raised concentrations of plasma total homocysteine. The commonest associations are with cardiovascular diseases and diseases of the central nervous system, but a large number of developmental and age-related conditions are also associated. Few other disease biomarkers have so many associations. Read More

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October 2021

Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B.

Am J Med Genet A 2021 05 14;185(5):1504-1508. Epub 2021 Feb 14.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

Peroxisome biogenesis disorders (PBDs) are a group of autosomal recessive disorders caused due to impaired peroxisome assembly affecting the formation of functional peroxisomes. PBDs are caused by a mutation in PEX gene family resulting in disease manifestation with extreme variability ranging from the onset of profound neurologic symptoms in newborns to progressive degenerative disease in adults. Disease causing variations in PEX7 is known to cause severe rhizomelic chondrodysplasia punctata type 1 and PBD 9B, an allelic disorder resulting in a milder phenotype, often indistinguishable from that of classic Refsum disease. Read More

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Plasma Sulfur Amino Acids and Risk of Cerebrovascular Diseases: A Nested Case-Control Study in the EPIC-Norfolk Cohort.

Stroke 2021 01 22;52(1):172-180. Epub 2020 Dec 22.

Medical Research Council Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge, United Kingdom (N.J.W., N.G.F., F.I.).

Background And Purpose: B-vitamin supplements lower circulating concentrations of homocysteine and may reduce stroke incidence. Homocysteine concentrations are associated with the incidence of stroke but other sulfur-containing compounds in the related metabolic pathway have not yet been investigated for an association with incident cerebrovascular diseases.

Methods: Nested within the EPIC (European Prospective Investigation Into Cancer and Nutrition)-Norfolk cohort, we established a case-control study with 480 incident cases of cerebrovascular diseases and 480 controls matched by age, sex, and year of baseline examination (1993-1997). Read More

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January 2021

Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a defect: Case report and literature review.

Mol Genet Metab Rep 2020 Dec 19;25:100664. Epub 2020 Oct 19.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.

Defects in are associated with a severe neonatal-lethal form of Zellweger spectrum disorder. We report two moderately affected siblings whose clinical and biochemical phenotypes expand the reported spectrum of -related disease. Genome sequencing of an adolescent male with progressive movement disorder, spasticity and neurodegeneration, and previous non-diagnostic plasma very-long chain fatty acid analysis, revealed a homozygous likely pathogenic missense variant in [c. Read More

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December 2020

Improved electroretinographic responses following dietary intervention in a patient with Refsum disease.

JIMD Rep 2020 Sep 12;55(1):32-37. Epub 2020 Jul 12.

Department of Medical Genetics University of Alberta Edmonton Alberta Canada.

Refsum disease is a rare inherited metabolic disorder arising from a defect in peroxisomal metabolism. Patients lack the functional enzyme phytanoyl-CoA hydroxylase, resulting in perturbed alpha oxidation of fatty acids. Phytanic acid accumulates in nervous and adipose tissue and leads to several disease phenotypes including early-onset retinal degeneration, hearing loss, peripheral neuropathy, anosmia, and cerebellar ataxia, among others. Read More

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September 2020

Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'.

J Neuromuscul Dis 2021 ;8(3):383-400

Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.

Background: Hereditary peripheral neuropathies are inherited disorders affecting the peripheral nervous system, including Charcot-Marie-Tooth disease, familial amyloid polyneuropathy and hereditary sensory and motor neuropathies. While the molecular basis of hereditary peripheral neuropathies has been extensively researched, interventional trials of pharmacological therapies are lacking.

Objective: We collated evidence for the effectiveness of pharmacological and gene-based treatments for hereditary peripheral neuropathies. Read More

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November 2021

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

JAMA Netw Open 2020 05 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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Laparoscopy-assisted versus balloon enteroscopy-assisted ERCP after Roux-en-Y gastric bypass.

Endoscopy 2020 08 21;52(8):654-661. 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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Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease.

FEBS J 2020 12 31;287(23):5096-5113. Epub 2020 Mar 31.

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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December 2020

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

J Peripher Nerv Syst 2020 06 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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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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January 2020

Adult onset seizures in learning disability.

J R Coll Physicians Edinb 2019 Dec;49(4):309-310

Cognitive Function Clinic, Walton Centre for Neurology and Neurosurgery, Lower Lane, Liverpool L9 7LJ, UK,

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December 2019