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alkaptonuria

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https://www.readbyqxmd.com/read/28535941/-anesthetic-management-of-two-patients-with-alkaptonuric-ochronosis-for-total-knee-arthroplasty
#1
Betul Kozanhan
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. However respiratory, airway, cardiovascular and genitourinary systems complications can occur with age progressing. Restricted range of motion of cervical spine may lead to difficulty with airway management...
May 20, 2017: Revista Brasileira de Anestesiologia
https://www.readbyqxmd.com/read/28528068/aortic-valve-stenosis-in-alkaptonuria
#2
Christos Tourmousoglou, Nikolaos Nikoloudakis, Antonis Pitsis
No abstract text is available yet for this article.
June 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28492150/selective-screening-for-organic-acidurias-and-amino-acidopathies-in-pakistani-children
#3
Noreen Abbas Sherazi, Aysha Habib Khan, Lena Jafri, Azeema Jamil, Nasir Ali Khan, Bushra Afroze
OBJECTIVE: To determine the frequency of organic acidurais (OA) and amino acidopathies (AA) in selected high-risk patients screened in two years. STUDY DESIGN: Retrospective Observational study. PLACE AND DURATION OF STUDY: The Aga Khan University Hospital (AKUH), Karachi, from January 2013 to December 2014. METHODOLOGY: Patients with OA and AA were included in the study and patients with IMDs other than OA and AA were excluded...
April 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28410607/aprecisekure-an-approach-of-precision-medicine-in-a-rare-disease
#4
Ottavia Spiga, Vittoria Cicaloni, Andrea Bernini, Andrea Zatkova, Annalisa Santucci
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. We present here a novel ApreciseKUre database facilitating the collection, integration and analysis of patient data in order to create an AKU-dedicated "PM Ecosystem" in which genetic, biochemical and clinical resources can be shared among registered researchers...
April 14, 2017: BMC Medical Informatics and Decision Making
https://www.readbyqxmd.com/read/28271171/histological-and-ultrastructural-characterization-of-alkaptonuric-tissues
#5
Lia Millucci, Giulia Bernardini, Adriano Spreafico, Maurizio Orlandini, Daniela Braconi, Marcella Laschi, Michela Geminiani, Pietro Lupetti, Giovanna Giorgetti, Cecilia Viti, Bruno Frediani, Barbara Marzocchi, Annalisa Santucci
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. The disease is clinically characterized by homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and joint arthropathy...
March 7, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28240677/an-unusual-cause-of-myelopathy-ochronotic-spondyloarthropathy-with-positive-hla-b27
#6
Sinem Bozkurt, Lale Aktekin, Fatma Gülçin Uğurlu, Serdar Balci, Nebahat Sezer, Selami Akkus
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. He had low back and leg pain and morning stiffness for 5 yrs. Last year, these were followed by tingling, numbness, and weakness the in lower extremities and he was operated on with preliminary diagnosis of prolapsed disc herniation and cord compression...
February 24, 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28217270/neurological-assessment-and-nerve-conduction-study-findings-in-22-patients-with-alkaptonuria-from-jordan
#7
Omar Alrawashdeh, Mohammad Alsbou, Hamed Alzoubi, Hani Al-Shagahin
Alkaptonuria is a rare metabolic disease characterised by accumulative deposition of homogentisic acid in the connective tissue of the body. This results in early degeneration of tendons, cartilages, heart valves, and other tissues. The main objective of the study is to examine the possibility of the nervous system involvement in patients with alkaptonuria The sample consists of two groups; 22 patients with AKU and 20 controls. A neurological assessment has been carried out including detailed medical history, neurological examination, and a nerve conduction study of the nerves of the dominant hand...
November 2, 2016: Neurology International
https://www.readbyqxmd.com/read/28192171/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
#8
Elisa Mitri, Lia Millucci, Lucia Merolle, Giulia Bernardini, Lisa Vaccari, Alessandra Gianoncelli, Annalisa Santucci
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. Composition of ochronotic pigment and how it is structurally related to amyloid is still unknown. METHODS: We exploited Synchrotron Radiation Infrared and X-Ray Fluorescence microscopies in combination with conventional bio-assays and analytical tools to characterize chemical composition and morphology of AKU cartilage...
February 9, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28158906/reduced-primary-cilia-length-and-altered-arl13b-expression-are-associated-with-deregulated-chondrocyte-hedgehog-signaling-in-alkaptonuria
#9
Stephen D Thorpe, Silvia Gambassi, Clare L Thompson, Charmilie Chandrakumar, Annalisa Santucci, Martin M Knight
Alkaptonuria (AKU) is a rare inherited disease resulting from a deficiency of the enzyme homogentisate 1,2-dioxygenase which leads to the accumulation of homogentisic acid (HGA). AKU is characterized by severe cartilage degeneration, similar to that observed in osteoarthritis. Previous studies suggest that AKU is associated with alterations in cytoskeletal organization which could modulate primary cilia structure/function. This study investigated whether AKU is associated with changes in chondrocyte primary cilia and associated Hedgehog signaling which mediates cartilage degradation in osteoarthritis...
September 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28128559/4-hydroxyphenylpyruvate-dioxygenase-and-its-inhibition-in-plants-and-animals-small-molecules-as-herbicides-and-agents-for-the-treatment-of-human-inherited-diseases
#10
REVIEW
Annalisa Santucci, Giulia Bernardini, Daniela Braconi, Elena Petricci, Fabrizio Manetti
This review mainly focuses on the physiological function of 4-hydroxyphenylpyruvate dioxygenase (HPPD), as well as on the development and application of HPPD inhibitors of several structural classes. Among them, one illustrative example is represented by compounds belonging to the class of triketone compounds. They were discovered by serendipitous observations on weed growth and were developed as bleaching herbicides. Informed reasoning on nitisinone (NTBC, 14), a triketone that failed to reach the final steps of the herbicidal design and development process, allowed it to become a curative agent for type I tyrosinemia (T1T) and to enter clinical trials for alkaptonuria...
May 25, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28028161/cartilage-biomarkers-in-the-osteoarthropathy-of-alkaptonuria-reveal-low-turnover-and-accelerated-ageing
#11
Adam M Taylor, Ming-Feng Hsueh, Lakshminarayan R Ranganath, James A Gallagher, Jane P Dillon, Janet L Huebner, Jon B Catterall, Virginia B Kraus
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. Typically, this occurs in joint cartilages, leading to an early onset, rapidly progressing osteoarthropathy. The aim of this study was to examine tissue turnover in cartilage affected by ochronosis and its role in disease initiation and progression...
January 2017: Rheumatology
https://www.readbyqxmd.com/read/28019670/smoothened-antagonists-reverse-homogentisic-acid-induced-alterations-of-hedgehog-signaling-and-primary-cilium-length-in-alkaptonuria
#12
Silvia Gambassi, Michela Geminiani, Stephen D Thorpe, Giulia Bernardini, Lia Millucci, Daniela Braconi, Maurizio Orlandini, Clare L Thompson, Elena Petricci, Fabrizio Manetti, Maurizio Taddei, Martin M Knight, Annalisa Santucci
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...
December 26, 2016: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/27980763/operating-the-blues
#13
Andrew C Chatzis, Meletios A Kanakis, Joanne Sofianidou, Alexandros J Tsoutsinos
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.
December 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27971735/development-of-an-economic-model-to-assess-the-cost-effectiveness-of-nitisinone-as-a-treatment-for-alkaptonuria-in-the-uk
#14
C McCarron
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27943071/analysis-of-melanin-like-pigment-synthesized-from-homogentisic-acid-with-or-without-tyrosine-and-its-implications-in-alkaptonuria
#15
Adam M Taylor, Koen P Vercruysse
Alkaptonuria is an iconic disease used by Archibald Garrod to demonstrate the theory of "inborn errors of metabolism". AKU knowledge has advanced in recent years: development of an in vitro model, discovery of murine models and advances in understanding bone and cartilage phenotypes and arthropathy in AKU. These discoveries have aided in a new clinical trial into nitisinone. However, there are still knowledge gaps surrounding the pigment in AKU and the pigmentation process. We demonstrate an advance in the understanding in the kinetics and chemistry of the polymerisation of homogentisic acid (HGA) into its pigment using size-exclusion chromatography and IR spectroscopy...
December 10, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27904192/a-case-of-alkaptonuria-with-degenerative-collagenous-plaques-and-foot-drop
#16
C Chandrakala, Gurusami Karuvelan Tharini, M Ananthi, R Subha
No abstract text is available yet for this article.
November 2016: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/27865997/homogentisic-acid-induces-aggregation-and-fibrillation-of-amyloidogenic-proteins
#17
Daniela Braconi, Lia Millucci, Andrea Bernini, Ottavia Spiga, Pietro Lupetti, Barbara Marzocchi, Neri Niccolai, Giulia Bernardini, Annalisa Santucci
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. Recently, the potential role of hitherto unidentified proteins in the ochronotic process was hypothesized, and the presence of Serum Amyloid A (SAA) in alkaptonuric tissues was reported, allowing the classification of AKU as a novel secondary amyloidosis...
February 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27817975/long-term-result-of-arthroplasty-in-the-treatment-of-a-case-of-ochronotic-arthropathy
#18
Sinan Karaoğlu, Fatih Karaaslan, Musa Uğur Mermerkaya
Alkaptonuria is a rare metabolic disease caused by a partial or total deficiency of homogentisic acid oxidase, which results in excess homogentisic acid (HGA) levels. Homogentisic acid and its oxidation products can accumulate in hyaline cartilage, tendons, and ligaments. A 55-year-old male was admitted complaining of worsening chronic pain in his left knee. A radiographic evaluation showed tricompartmental end- stage osteoarthritis. A cemented total knee replacement was performed. At the 10-year follow-up, he had returned to full activity, had no knee pain, and was very satisfied with the outcome...
October 2016: Acta Orthopaedica et Traumatologica Turcica
https://www.readbyqxmd.com/read/27816602/alkaptonuric-ochronosis
#19
Onkar Singh, Rajadoss Muthukrishna Pandian, Nitin Sudhakar Kekre
Alkaptonuria is a rare autosomal recessive disorder of tyrosine metabolism. Deficiency of homogentisate 1,2 dioxygenase results in accumulation of oxidized homogentisic acid in the connective tissues of the skin, eyes and ears, musculoskeletal system, and cardiac valves, and in urolithiasis. Excretion of excessive homogentisic acid in urine causes dark-colored urine on exposure to air. We present a case of alkaptonuria with multiple system involvement, who presented with lower urinary tract symptoms secondary to vesical and prostatic calculi...
November 2, 2016: Urology
https://www.readbyqxmd.com/read/27784639/gas-chromatography-mass-spectrometry-based-urine-metabolome-study-in-children-for-inborn-errors-of-metabolism-an-indian-experience
#20
Mahesh H Hampe, Shrimant N Panaskar, Ashwini A Yadav, Pramod W Ingale
OBJECTIVE: The present study highlights the feasibility of gas chromatography/mass spectrometry (GC/MS)-based analysis for simultaneous detection of >200 marker metabolites in urine found in characteristic pattern in inborn errors of metabolism (IEM) in India. DESIGN AND METHODS: During this retrospective study conducted from July 2013 to January 2016, we collected urine specimens on filter papers from Indian children across the country along with relevant demographic and clinical data...
February 2017: Clinical Biochemistry
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