930 results match your criteria Ochronosis


Raman Spectroscopy identifies differences in ochronotic and non-ochronotic cartilage; a potential novel technique for monitoring ochronosis.

Osteoarthritis Cartilage 2019 Apr 22. Epub 2019 Apr 22.

Lancaster Medical School, Faculty of Health & Medicine, Lancaster University, Bailrigg, Lancaster, UK. Electronic address:

Objective: Alkaptonuria (AKU) is a rare, inherited disorder of tyrosine metabolism, where patients are unable to breakdown homogentisic acid (HGA), which increases systemically over time. It presents with a clinical triad of features; HGA in urine, ochronosis of collagenous tissues, and the subsequent ochronotic arthritis of these tissues. In recent years the advance in the understanding of the disease and the potential treatment of the disorder looks promising with the data on the efficacy of nitisinone. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10634584193095
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http://dx.doi.org/10.1016/j.joca.2019.04.012DOI Listing
April 2019
1 Read

Serum Oxidative-Antioxidative Status in Patients With Alkaptonuria.

J Clin Med Res 2019 May 14;11(5):337-344. Epub 2019 Apr 14.

Department of Public Health, Faculty of Medicine, Mutah University, Mutah, Jordan.

Background: Alkaptonuria (AKU) is a rare genetic disease associated with the deposition of melanin-like pigments (ochronosis) in connective tissues. However, data regarding the effect of oxidative stress products on disease pathogenesis are limited. The purpose of this study was to investigate oxidative stress and related factors in patients with alkaptonuria and compare the findings with those in healthy control subjects. Read More

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http://dx.doi.org/10.14740/jocmr3801DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469887PMC

The Dark Side of the Heart: Cardiovascular Manifestation of Ochronosis.

Ann Thorac Surg 2019 Mar 26. Epub 2019 Mar 26.

Department of Cardiac and Transplant Surgery, University Hospital Dubrava, Zagreb, Croatia.

Alkaptonuria is rare genetic disorder of tyrosine metabolism presenting with signs of tissue pigmentation, dark urine and ochronotic arthropathies. Commonly undiscovered by late adulthood it can manifest as cardiac ochronosis with cardiovascular disorders such as valvulopathies but rarely coronary artery disease. We present two patients with aortic stenosis and coronary artery disease in whom alkaptonuria was diagnosed during open-heart surgery. Read More

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http://dx.doi.org/10.1016/j.athoracsur.2019.02.042DOI Listing
March 2019
1 Read

Ochronosis Involvement and Extensity With 18F-FDG PET/CT.

Clin Nucl Med 2019 May;44(5):e360-e361

Department of Internal Medicine, and Division of Rheumatology, Dokuz Eylul University, School of Medicine, Izmir, Turkey.

Ochronosis (alkaptonuria) is an autosomal recessive inherited metabolic disease that causes pigmentation by accumulation of homogenous acid in the connective tissue. The most important causes of morbidity are ochronotic arthropathy and cardiovascular involvement seen in fourth and sixth decades, respectively. In this case report, we report the prevalence of F-FDG PET/BT findings in a 48-year-old man with ochronosis who underwent F-FDG PET/BT imaging for the evaluation of mediastinal lymphadenopathy. Read More

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http://dx.doi.org/10.1097/RLU.0000000000002518DOI Listing
May 2019
2 Reads

An Unusual Case of Bilateral Ochronotic Arthropathy of the Hip Successfully Managed by a Staged Bilateral Total Hip Replacement- An Insight with a Surgical Note.

J Orthop Case Rep 2018 Jul-Aug;8(4):11-14

Department of Orthopaedics, Hospital Infanta Leonor, Madrid, Spain.

Introduction: Ochronosis is an inherited metabolic disease that causes a brownish-black pigmentation of the connective tissue. There is currently no specific treatment for ochronosis. The goal of treatment is to control the progress of disease with a multidisciplinary approach and symptomatic relief. Read More

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http://dx.doi.org/10.13107/jocr.2250-0685.1136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343567PMC
January 2019
1 Read

Knee and Hip Joint Replacement Surgery in a Patient with Ochronotic Arthropathy: Surgical Tips.

Arch Bone Jt Surg 2018 Nov;6(6):577-581

Research performed at Shahid Modarress Hospital, Saveh, Markazi, Iran.

Ochronosis or black joints disorder is a rare autosomal recessive disorder caused by deficiency of homogentisic acid oxidase. Orthopaedic manifestations are common and mostly involve spine and large joints such as knee and hip. Arthropathy is progressive and will eventually leads to arthroplasty. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310191PMC
November 2018
2 Reads

A case of ochronosis successfully treated with the picosecond laser.

J Cosmet Dermatol 2018 Dec 16. Epub 2018 Dec 16.

Clínica Dermatológica Isela Méndez, Ciudad de México, México.

Exogenous ochronosis is a cutaneous condition characterized by blue-black pigmentation resulting as a complication of long-term application of skin-lightening creams containing hydroquinone and other substances such as quinine, phenol and mercury derivatives. We report a case of a 55-year-old woman who developed exogenous ochronosis as a result of prolonged use of topical hydroquinone for 5 years, characterized by greyish hyperpigmented patches on the nose and cheeks. The diagnosis was confirmed histologically. Read More

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http://dx.doi.org/10.1111/jocd.12834DOI Listing
December 2018
11 Reads

Knee Arthroscopy: A Diagnostic and Therapeutic Tool for Management of Ochronotic Arthropathy.

Arthrosc Tech 2018 Nov 1;7(11):e1097-e1101. Epub 2018 Oct 1.

Stetson Powell Orthopedics and Sports Medicine, Burbank, California, U.S.A.

The surgical treatment of ochronotic arthropathy remains unclear. Although there is no absolute cure for ochronotic arthropathy, current management typically begins with conservative treatment. Total joint replacement may eventually be necessary for joints that become severely degenerative. Read More

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http://dx.doi.org/10.1016/j.eats.2018.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261060PMC
November 2018
4 Reads

Black-Colored Ligamentum Flavum Due to Alkaptonuria.

J Neurol Surg A Cent Eur Neurosurg 2019 Mar 26;80(2):131-133. Epub 2018 Nov 26.

Department of Neurosurgery, Adiyaman University, Education and Research Hospital, Adiyaman, Turkey.

Alkaptonuria is a rare metabolic disease caused by deficiency of homogentisic acid oxidase and characterized by bluish-black discoloration of cartilages and skin (ochronosis). Defective production of this enzyme results in the accumulation of homogentisic acid (HGA), a tyrosine degradation product, in the bloodstream. Accumulation of HGA and its metabolites in tissues causes ochronosis. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1675784
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http://dx.doi.org/10.1055/s-0038-1675784DOI Listing
March 2019
13 Reads

Alkaptonuria.

Med J Armed Forces India 2018 Oct 25;74(4):394-396. Epub 2017 Jul 25.

Associate Professor, Department of Radiodiagnosis, Armed Forces Medical College, Pune 411040, India.

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http://dx.doi.org/10.1016/j.mjafi.2017.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224644PMC
October 2018
1 Read

No ochronosis was seen at internal thoracic artery with alkaptonuria.

Asian Cardiovasc Thorac Ann 2018 Nov 11:218492318813791. Epub 2018 Nov 11.

Department of Cardiovascular Surgery, School of Medicine, Sapporo Medical University, Hokkaido, Japan.

Alkaptonuria is a rare disorder of amino acid metabolism that causes premature large joint spine arthropathy and cardiac disease. We describe a case of aortic stenosis and coronary artery disease associated with ochronosis in a 76-year-old man who underwent aortic valve replacement and coronary artery bypass grafting. Although the ochronosis was extensive, no ochronosis was seen in the internal thoracic artery which used for coronary artery bypass grafting. Read More

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http://journals.sagepub.com/doi/10.1177/0218492318813791
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http://dx.doi.org/10.1177/0218492318813791DOI Listing
November 2018
4 Reads

Alkaptonuria-an atypical case: multi-modality imaging review.

Skeletal Radiol 2019 May 8;48(5):819-822. Epub 2018 Nov 8.

Department of Radiology, Sree Balaji Medical College and Hospital, 7, Works Road, Chromepet, Chennai, Tamil Nadu, 600044, India.

Alkaptonuria is a rare inborn metabolic disorder due to a mutation in the homogentisic acid oxidase enzyme (HGO) gene on chromosome 3q. As HGO is deficient in alkaptonuria patients, there is an accumulation of homogentisic acid in the blood and urine. Homogentisic acid gets deposited in the soft tissues, tendons, cartilages, large joints and intervertebral discs. Read More

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http://dx.doi.org/10.1007/s00256-018-3104-4DOI Listing
May 2019
2 Reads

Secondary osteoarthritis to ochronotic arthropathy - a diagnostic challenge.

Rev Assoc Med Bras (1992) 2018 Jul;64(7):583-585

Pathology, General Hospital Geral César Cals, Fortaleza, Ceará, Brasil.

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http://dx.doi.org/10.1590/1806-9282.64.07.583DOI Listing
July 2018
3 Reads

Homogentisic acid induces morphological and mechanical aberration of ochronotic cartilage in alkaptonuria.

J Cell Physiol 2019 May 20;234(5):6696-6708. Epub 2018 Oct 20.

Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy.

Alkaptonuria (AKU) is a disease caused by a deficient homogentisate 1,2-dioxygenase activity leading to systemic accumulation of homogentisic acid (HGA), that forms a melanin-like polymer that progressively deposits onto connective tissues causing a pigmentation called "ochronosis" and tissue degeneration. The effects of AKU and ochronotic pigment on the biomechanical properties of articular cartilage need further investigation. To this aim, AKU cartilage was studied using thermal (thermogravimetry and differential scanning calorimetry) and rheological analysis. Read More

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http://dx.doi.org/10.1002/jcp.27416DOI Listing
May 2019
7 Reads
3.840 Impact Factor

Collagenous and elastotic marginal plaques of the hand: A potential clue to the diagnosis of alkaptonuria.

J Cutan Pathol 2019 Jan 5;46(1):74-79. Epub 2018 Nov 5.

Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida.

Collagenous and elastotic marginal plaques of the hand (CEMPH) is a rare, chronic keratoderma characterized by hyperkeratotic linear plaques located along the radial and ulnar aspects of the hands bilaterally. As an isolated finding, CEMPH occurs secondarily to chronic trauma and photodamage. Herein, CEMPH is described as a manifestation of alkaptonuria (AKU). Read More

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http://dx.doi.org/10.1111/cup.13368DOI Listing
January 2019
6 Reads

Data on items of AKUSSI in Alkaptonuria collected over three years from the United Kingdom National Alkaptonuria Centre and the impact of nitisinone.

Data Brief 2018 Oct 12;20:1620-1628. Epub 2018 Sep 12.

Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.

Alkaptonuria is a rare genetic disorder characterized by a high level of circulating (and urine) homogentisic acid (HGA), which contributes to ochronosis when it is deposited in connective tissue as a pigmented polymer. In an observational study carried out by National AKU Centre (NAC) in Liverpool, a total of thirty-nine AKU patients attended yearly visits in varying numbers. At each visit a mixture of clinical, joint and spinal assessments were carried out and the results calculated to yield an AKUSSI (Alkaptonuria Severity Score Index), see "Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre" (Ranganath at el. Read More

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http://dx.doi.org/10.1016/j.dib.2018.09.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6157456PMC
October 2018
16 Reads

Ochronosis Presenting as Methemoglobinemia.

J Forensic Sci 2018 Sep 19. Epub 2018 Sep 19.

Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA.

Ochronosis is the blue-gray discoloration of collagen-containing tissues due to homogentisic acid (HGA) deposition, secondary to endogenous alkaptonuria or exogenous enzyme inhibition. In renal disease, accumulation of HGA in serum can cause methemoglobinemia. A 60-year-old woman with renal disease and anemia presented with 3 days of weakness and months of gray skin discoloration. Read More

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http://doi.wiley.com/10.1111/1556-4029.13907
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http://dx.doi.org/10.1111/1556-4029.13907DOI Listing
September 2018
29 Reads

A case of 'blue skin' and 'dark urine'.

Med J Armed Forces India 2018 Jul 18;74(3):300-303. Epub 2017 Aug 18.

Commanding Officer, Armed Forces Transfusion Centre, Delhi Cantt, India.

A 60-year-old female presented with a 20-year history of progressive dark bluish discoloration of skin and passage of dark colored urine, painful arthritis and a recent history of invasive ductal carcinoma of right breast. Skin biopsy revealed hyaline material which was Periodic-Acid-Schiff stain positive and Congo-red stain negative, urine analysis revealed dark urine with presence reducing substance and radio-imaging showed intervertebral ossification and joint ankyloses. The patient was managed symptomatically with physiotherapy and acetaminophen on as required basis. Read More

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http://dx.doi.org/10.1016/j.mjafi.2017.06.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081490PMC
July 2018
11 Reads

A case of exogenous ochronosis associated with hydroxychloroquine.

Eur J Rheumatol 2018 Sep 22;5(3):206-208. Epub 2018 Jun 22.

Division of Rheumatology, Department of Internal Medicine, Health Sciences University Gülhane School of Medicine, Ankara, Turkey.

Exogenous ochronosis is characterized by hyperpigmented skin lesions that arise in association with local suppression of homogentisic acid oxidase enzyme. Although it generally develops in association with topical application of chemical agents, it can occasionally develop in association with antimalarial drugs. Here we present the case of a patient with rheumatoid arthritis who developed hyperpigmentation on the face and neck regions during hydroxychloroquine treatment. Read More

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http://dx.doi.org/10.5152/eurjrheum.2018.17190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6116847PMC
September 2018
32 Reads

Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre.

Mol Genet Metab 2018 09 24;125(1-2):127-134. Epub 2018 Jul 24.

Department of Musculoskeletal Biology, University of Liverpool, L69 7ZX, UK.

Question: Does Nitisinone prevent the clinical progression of the Alkaptonuria?

Findings: In this observational study on 39 patients, 2 mg of daily nitisinone inhibited ochronosis and significantly slowed the progression of AKU over a three-year period.

Meaning: Nitisinone is a beneficial therapy in Alkaptonuria.

Background: Nitisinone decreases homogentisic acid (HGA), but has not been shown to modify progression of Alkaptonuria (AKU). Read More

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http://dx.doi.org/10.1016/j.ymgme.2018.07.011DOI Listing
September 2018
2 Reads

An Osteochondral Allograft in a Patient with Ochronosis: A Case Report.

JBJS Case Connect 2018 Jul-Sep;8(3):e55

Rebound Orthopedics & Neurosurgery, Vancouver, Washington.

Case: When a 31-year-old man with no prior medical history underwent diagnostic arthroscopy for posttraumatic knee pain, ochronotic arthropathy was identified. Subsequent blood tests led to the diagnosis of alkaptonuria. After a discussion regarding his future military career and prognosis, he elected to proceed with osteochondral allograft transplantation surgery (OATS). Read More

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http://dx.doi.org/10.2106/JBJS.CC.18.00038DOI Listing
July 2018
4 Reads

A rare case of ochronosis presenting with cervical compressive myelopathy.

Neurol India 2018 Jul-Aug;66(4):1178-1181

Department of Neurosurgery, Care Hospitals, Visakhapatnam, Andhra Pradesh, India.

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http://dx.doi.org/10.4103/0028-3886.236956DOI Listing
July 2018
9 Reads

Ochronosis of the aortic valve.

J Thorac Dis 2018 May;10(5):E332-E334

Department of Cardiothoracic Surgery, John Hunter Hospital, New Lambton Heights, New South Wales, Australia.

Ochronosis is the bluish-black discolouration of connective tissue, including heart valves, joints, kidney and the skin. It is due to the deposition of homogentisic acid (HGA) commonly found in alkaptonuria. Ochronosis in the aortic valve is a rare occurrence and there is limited data available on the most appropriate choice of valve prosthesis in these patients. Read More

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http://dx.doi.org/10.21037/jtd.2018.05.16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006137PMC
May 2018
4 Reads

Dermoscopic and laser confocal features of an exogenous ochronosis case.

G Ital Dermatol Venereol 2018 Jun 29. Epub 2018 Jun 29.

University of Medicine and Pharmacy "Carol Davila", Bucharest, Romania.

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http://dx.doi.org/10.23736/S0392-0488.18.06024-8DOI Listing
June 2018
4 Reads

Medical response to the declaration of the First World War: The case of Edwin Seaborn.

J Med Biogr 2018 Nov 4;26(4):234-242. Epub 2018 May 4.

London Health Sciences Centre and Western University, Canada.

At the turn of the 20th century, Dr Edwin Seaborn was starting his surgical and academic career at Western University in Ontario. When war was declared in 1914, Seaborn prevailed upon the university's president to offer the Canadian government a fully staffed hospital for deployment overseas. Initially declined by the War Office in Ottawa, the university's offer was later accepted after mounting casualties stretched the capacity of the Canadian Army Medical Corps, and Seaborn was granted command of the new No. Read More

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http://dx.doi.org/10.1177/0967772017752897DOI Listing
November 2018
4 Reads

Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features.

JIMD Rep 2018 14;41:53-62. Epub 2018 Apr 14.

Royal Liverpool University Hospital, Liverpool, UK.

Background: Alkaptonuria (AKU) is a rare disorder with no licensed treatment; nitisinone may reduce symptoms and progression. The All Alkaptonuria Severity Score Index (AKUSSI) measures disease severity in clinical, joint and spine domains, with 57 subcomponent feature scores. Our primary aim was to assess tools for validating scores such as the AKUSSI by detecting relationships between features both before and during nitisinone treatment. Read More

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http://dx.doi.org/10.1007/8904_2018_98DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122049PMC
April 2018
3 Reads

Fatal methemoglobinemia complicating alkaptonuria (ochronosis): a rare presentation.

Forensic Sci Med Pathol 2018 06 23;14(2):236-240. Epub 2018 Mar 23.

Forensic Science SA, GPO Box 2790, Adelaide, SA, 5001, Australia.

A 61-year-old female died in hospital with multiple organ failure 4 weeks following presentation with acute kidney injury, hemolytic anemia and methemoglobinemia. At autopsy, brown to black discoloration of cartilages was observed. Histology revealed brown pigmentation of the hyaline cartilage, with focal full-thickness erosion of the articular hyaline cartilage, characteristic of alkaptonuria (ochronosis). Read More

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http://dx.doi.org/10.1007/s12024-018-9965-yDOI Listing
June 2018
5 Reads

Ochronosis of Mitral Valve and Coronary Arteries.

Ann Thorac Surg 2018 Jul 1;106(1):e19-e20. Epub 2018 Mar 1.

Division of Cardiac Surgery, London Health Sciences Centre, Western University, London, Ontario, Canada. Electronic address:

Cardiac ochronosis is a rare complication of alkaptonuria, a disorder of tyrosine metabolism characterized by a triad of dark urine, pigmentation of tissues, and ochronotic arthropathies. When present, cardiac ochronosis generally affects the aortic valve, resulting in aortic stenosis. More rarely, it may affect the mitral valve and the coronary arteries. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00034975183026
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http://dx.doi.org/10.1016/j.athoracsur.2018.01.074DOI Listing
July 2018
6 Reads

Alkaptonuric Ochronosis and the Failure of Regional Cerebral Tissue Oxygen Saturation Monitoring by Two Different Near-infrared Spectroscopy Devices.

J Cardiothorac Vasc Anesth 2018 10 29;32(5):2286-2288. Epub 2017 Dec 29.

Department of Anesthesiology, Kurashiki Central Hospital, Kurashiki, Okayama, Japan.

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http://dx.doi.org/10.1053/j.jvca.2017.12.046DOI Listing
October 2018
8 Reads

Calcaneal Avulsion of an Ochronotic Achilles Tendon: A Case Report.

J Foot Ankle Surg 2018 Jan - Feb;57(1):179-183. Epub 2017 Nov 4.

Specialist in Pathology, Department of Pathology, Ankara Research and Training Hospital, Ankara, Turkey.

Alkaptonuria is a hereditary disorder of phenylalanine and tyrosine, with an incidence of approximately 1/200,000 to 1/1,000,000. Ochronosis is the accumulation of homogentisic acid and its metabolites in connective tissues such as the tendons, cartilage, and skin. In the present case study, a 50-year-old male presented with a nontraumatic calcaneal avulsion without a previous diagnosis of ochronosis. Read More

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http://dx.doi.org/10.1053/j.jfas.2017.07.012DOI Listing
August 2018
2 Reads

Woman in black: the cardiac ochronosis with severe aortic valve stenosis.

Eur J Cardiothorac Surg 2018 04;53(4):887

Department of Cardiovascular, Maria Pia Hospital, GVM Care & Research, Torino, Italy.

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http://dx.doi.org/10.1093/ejcts/ezx371DOI Listing
April 2018
4 Reads

Ochronosis: a close mimic of ankylosing spondylitis.

Rheumatology (Oxford) 2017 Oct 24. Epub 2017 Oct 24.

Department of Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1093/rheumatology/kex393DOI Listing
October 2017
12 Reads
4.470 Impact Factor

Arthroscopic diagnosis and treatment of shoulder ochronotic arthropathy - A case report.

J Clin Orthop Trauma 2017 Aug 5;8(Suppl 1):S80-S83. Epub 2017 Jan 5.

Orthopaedic Department, Sir Ganga Ram Hospital, Room no 1218-A, Rajendra Nagar, New Delhi, India.

Alkaptonuria is a rare inherited metabolic disorder, caused by the deficiency of homogentisate 1,2 dioxygenase enzyme. The three major features of alkaptonuria are the presence of homogentisic acid in urine, ochronosis (bluish-black pigmentation in connective tissue) and arthritis of the spine and large joints. We present a 48 years old female presented with pain, restriction of movements of right shoulder. Read More

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http://dx.doi.org/10.1016/j.jcot.2016.11.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574846PMC
August 2017
5 Reads

Toward a generalized computational workflow for exploiting transient pockets as new targets for small molecule stabilizers: Application to the homogentisate 1,2-dioxygenase mutants at the base of rare disease Alkaptonuria.

Comput Biol Chem 2017 Oct 25;70:133-141. Epub 2017 Aug 25.

Department of Biotechnology, Chemistry and Pharmacy, University of Siena, via Aldo Moro 2, 53100 Siena, Italy.

Alkaptonuria (AKU) is an inborn error of metabolism where mutation of homogentisate 1,2-dioxygenase (HGD) gene leads to a deleterious or misfolded product with subsequent loss of enzymatic degradation of homogentisic acid (HGA) whose accumulation in tissues causes ochronosis and degeneration. There is no licensed therapy for AKU. Many missense mutations have been individuated as responsible for quaternary structure disruption of the native hexameric HGD. Read More

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http://dx.doi.org/10.1016/j.compbiolchem.2017.08.008DOI Listing
October 2017
6 Reads

Image Gallery: Dermoscopy as an auxiliary tool in exogenous ochronosis.

Br J Dermatol 2017 08;177(2):e28

First Department of Dermatology, Aristotle University of Thessaloniki, Thessaloniki, Greece.

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http://doi.wiley.com/10.1111/bjd.15672
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http://dx.doi.org/10.1111/bjd.15672DOI Listing
August 2017
3 Reads

Severe Aortic Valve Stenosis Due to Alkaptonuric Ochronosis.

Semin Cardiothorac Vasc Anesth 2017 Dec 14;21(4):364-366. Epub 2017 Jul 14.

1 Texas Heart Institute, Houston, TX, USA.

Alkaptonuric ochronosis is a rare cause of aortic valve stenosis. We report the case of a 61-year-old female patient with alkaptonuria who presented to our institute with the clinical picture of severe aortic valve stenosis, which was confirmed by transthoracic echocardiography. On aortotomy, she was noted to have an impressive black discoloration of ascending aorta and the aortic root complex involving the aortic valve leaflets. Read More

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http://journals.sagepub.com/doi/10.1177/1089253217720284
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http://dx.doi.org/10.1177/1089253217720284DOI Listing
December 2017
12 Reads

Alkaptonuria: A case report.

Indian J Ophthalmol 2017 Jun;65(6):518-521

Department of Ophthalmology, Apollo Institute of Medical Sciences and Research, Jubilee Hills, Hyderabad, Telangana, India.

Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations are bluish-black discoloration of the conjunctiva, cornea, and sclera. Read More

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http://www.ijo.in/text.asp?2017/65/6/518/208876
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http://dx.doi.org/10.4103/ijo.IJO_337_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5508465PMC
June 2017
4 Reads

[Anesthetic management of two patients with alkaptonuric ochronosis for total knee arthroplasty].

Authors:
Betul Kozanhan

Rev Bras Anestesiol 2018 May - Jun;68(3):307-310. Epub 2017 May 20.

Konya Education and Research Hospital, Department of Anesthesiology and Reanimation, Konya, Turkey. Electronic address:

The current case report describes two cases of alkaptonuric ochronosis for anesthetic management. Alkaptonuria is a rare genetic orphan disease of tyrosine metabolism characterized by an accumulation of homogentisic acid in cartilage and connective tissues. Patients present most commonly for orthopedic joint surgery due to progressive arthropathy that can be misdiagnosed many a times. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00347094173026
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http://dx.doi.org/10.1016/j.bjan.2017.04.018DOI Listing
May 2017
10 Reads

An unusual cause of chronic low back pain: ochronosis.

Pan Afr Med J 2017;26:81. Epub 2017 Feb 21.

Department of Internal Medicine, Sahloul Hospital, Faculty of Medicine of Sousse, Sousse, Tunisia.

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http://dx.doi.org/10.11604/pamj.2017.26.81.11754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409989PMC
February 2017
7 Reads

ApreciseKUre: an approach of Precision Medicine in a Rare Disease.

BMC Med Inform Decis Mak 2017 Apr 14;17(1):42. Epub 2017 Apr 14.

Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy.

Background: Alkaptonuria (AKU; OMIM:203500) is a classic Mendelian genetic disorder described by Garrod already in 1902. It causes urine to turn black upon exposure to air and also leads to ochronosis as well as early osteoarthritis. Our objective is the implementation of a Precision Medicine (PM) approach to AKU. Read More

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http://dx.doi.org/10.1186/s12911-017-0438-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391600PMC
April 2017
8 Reads

Histological and Ultrastructural Characterization of Alkaptonuric Tissues.

Calcif Tissue Int 2017 07 7;101(1):50-64. Epub 2017 Mar 7.

Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Via Aldo Moro 2, 53100, Siena, Italy.

Alkaptonuria (AKU) is a hereditary disorder that results from altered structure and function of homogentisate 1,2 dioxygenase (HGD). This enzyme, predominantly produced by liver and kidney, is responsible for the breakdown of homogentisic acid (HGA), an intermediate in the tyrosine degradation pathway. A deficient HGD activity causes HGA levels to rise systemically. Read More

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http://link.springer.com/10.1007/s00223-017-0260-9
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http://dx.doi.org/10.1007/s00223-017-0260-9DOI Listing
July 2017
16 Reads

An Unusual Cause of Myelopathy: Ochronotic Spondyloarthropathy With Positive HLA B27.

Am J Phys Med Rehabil 2017 Nov;96(11):e206-e209

From the Atatürk Educational and Research Hospital, Physical Medicine and Rehabilitation Clinic (S. Bozkurt); and Physical Medicine and Rehabilitation Department (LA, FGU, NS, SA) and Pathology Department (S. Balci), Yildirim Beyazit University, Ankara, Turkey.

Ochronosis is a late developing complication of alkaptonuria, a black brownish pigment in the fibrous and cartilaginous tissues. Although most previous studies reported alkaptonuria and back pain due to ochronosis, thoracic myelopathy is an extremely rare complication. In this report, a paraparetic patient who has ochronotic spondiloarthropathy with the presence of HLA B27 antigen is described. Read More

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http://dx.doi.org/10.1097/PHM.0000000000000727DOI Listing
November 2017
5 Reads

A new light on Alkaptonuria: A Fourier-transform infrared microscopy (FTIRM) and low energy X-ray fluorescence (LEXRF) microscopy correlative study on a rare disease.

Biochim Biophys Acta Gen Subj 2017 May 9;1861(5 Pt A):1000-1008. Epub 2017 Feb 9.

Dipartimento di Biotecnologie Chimica e Farmacia, Università degli Studi di Siena, via Aldo Moro 2, 53100 Siena, Italy. Electronic address:

Background: Alkaptonuria (AKU) is an ultra-rare disease associated to the lack of an enzyme involved in tyrosine catabolism. This deficiency results in the accumulation of homogentisic acid (HGA) in the form of ochronotic pigment in joint cartilage, leading to a severe arthropathy. Secondary amyloidosis has been also unequivocally assessed as a comorbidity of AKU arthropathy. Read More

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http://dx.doi.org/10.1016/j.bbagen.2017.02.008DOI Listing
May 2017
11 Reads

Exogenous Ochronosis in Facial Melasma.

Actas Dermosifiliogr 2017 05 23;108(4):381-383. Epub 2017 Jan 23.

Sección de Micología, Hospital General «Dr. Manuel Gea González», Ciudad de México, México. Electronic address:

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http://dx.doi.org/10.1016/j.ad.2016.10.006DOI Listing
May 2017
3 Reads

Cartilage biomarkers in the osteoarthropathy of alkaptonuria reveal low turnover and accelerated ageing.

Rheumatology (Oxford) 2017 01 7;56(1):156-164. Epub 2016 Oct 7.

Department of Medicine, Duke University School of Medicine, Duke Molecular Physiology Institute.

Objective: Alkaptonuria (AKU) is a rare autosomal recessive disease resulting from a single enzyme deficiency in tyrosine metabolism. As a result, homogentisic acid cannot be metabolized, causing systemic increases. Over time, homogentisic acid polymerizes and deposits in collagenous tissues, leading to ochronosis. Read More

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http://dx.doi.org/10.1093/rheumatology/kew355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5188995PMC
January 2017
13 Reads

Smoothened-antagonists reverse homogentisic acid-induced alterations of Hedgehog signaling and primary cilium length in alkaptonuria.

J Cell Physiol 2017 Nov 29;232(11):3103-3111. Epub 2017 Mar 29.

Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy.

Alkaptonuria (AKU) is an ultra-rare genetic disease, in which the accumulation of a toxic metabolite, homogentisic acid (HGA) leads to the systemic development of ochronotic aggregates. These aggregates cause severe complications mainly at the level of joints with extensive degradation of the articular cartilage. Primary cilia have been demonstrated to play an essential role in development and the maintenance of articular cartilage homeostasis, through their involvement in mechanosignaling and Hedgehog signaling pathways. Read More

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http://dx.doi.org/10.1002/jcp.25761DOI Listing
November 2017
16 Reads

Operating the blues.

Clin Case Rep 2016 Dec 5;4(12):1201-1202. Epub 2016 Oct 5.

Department of Paediatric Cardiology Onassis Cardiac Surgery Centre Athens Greece.

A 63-year-old man bearing most signs and symptoms (facial pigmentation, degenerative arthritis, and dark urine) pertinent to his known history of alkaptonuria underwent aortic valve replacement for critical aortic stenosis. Although rare, aortic stenosis is the most common cardiac manifestation of alkaptonuric ochronosis. Read More

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http://dx.doi.org/10.1002/ccr3.710DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5134194PMC
December 2016
5 Reads

Use of skin-lightening products among selected urban communities in Accra, Ghana.

Int J Dermatol 2017 Jan;56(1):32-39

Department of Pathology, University of Ghana School of Biomedical and Allied Health Sciences, Accra, Ghana.

Background: The practice of skin lightening has been reported from North America, Europe, Asia, and Africa. In literature, some prevalence rates exceed 50%, and both sexes are involved. Common agents used include hydroquinone, mercury, corticosteroids, and caustic agents. Read More

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http://dx.doi.org/10.1111/ijd.13449DOI Listing
January 2017
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Homogentisic acid induces aggregation and fibrillation of amyloidogenic proteins.

Biochim Biophys Acta Gen Subj 2017 Feb 16;1861(2):135-146. Epub 2016 Nov 16.

Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, 53100, Siena, Italy. Electronic address:

Background: Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism characterized by homogentisic acid (HGA) accumulation due to a deficient activity of the homogentisate 1.2-dioxygenase (HGD) enzyme. This leads to the production of dark pigments that are deposited onto connective tissues, a condition named 'ochronosis' and whose mechanisms are not completely clear. Read More

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http://dx.doi.org/10.1016/j.bbagen.2016.11.026DOI Listing
February 2017
19 Reads