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Renu Saigal, M L Tank, Prashant Pathak, Alok Choudhary, Suresh Saigal
Alkaptonuria is an autosomal recessive metabolic disorder characterized by joints and spine involvement, ochronosis and presence of homogentisic acid in urine and its deposition in cartilage, intervertebral disc and other connective tissues, leading to disabling arthritis in elderly individual.
April 2016: Journal of the Association of Physicians of India
Lia Millucci, Giulia Bernardini, Barbara Marzocchi, Daniela Braconi, Michela Geminiani, Silvia Gambassi, Marcella Laschi, Bruno Frediani, Federico Galvagni, Maurizio Orlandini, Annalisa Santucci
Alkaptonuria (AKU) is a rare genetic disease that affects the entire joint. Current standard of AKU treatment is palliative and little is known about its physiopathology. Neovascularization is involved in the pathogenesis of systemic inflammatory rheumatic diseases, a family of related disorders that includes AKU. Here, we investigated the presence of neoangiogenesis in AKU synovium and healthy controls. Synovium from AKU patients, who had undergone total joint replacement or arthroscopy, or from healthy patients without any history of rheumatic diseases, who underwent surgical operation following sport trauma was subjected to hematoxylin and eosin staining...
November 2016: Journal of Inherited Metabolic Disease
Minviluz Garcia Stacey, Rebecca E Cahoon, Hanh T Nguyen, Cuong T Nguyen, Yaya Cui, Shirley Sato, Nongnat Phoka, Kerry M Clark, Yan Liang, Josef M Batek, Joe Forrester, Phat Tien Do, David A Sleper, Tom E Clemente, Edgar B Cahoon, Gary Stacey
Soybean (Glycine max L.) is a major plant source of protein and oil and produces important secondary metabolites beneficial for human health. As a tool for gene function discovery and improvement of this important crop, a mutant population was generated using fast neutron irradiation. Visual screening of mutagenized seeds identified a mutant line, designated MO12, which produced brown seeds as opposed to the yellow seeds produced by the unmodified Williams 82 parental cultivar. Using forward genetic methods combined with comparative genome hybridization (CGH) analysis, we were able to establish that deletion of the GmHGO1 gene is the genetic basis of the brown seeded phenotype exhibited by the MO12 mutant line...
September 22, 2016: Plant Physiology
Daniela Machado, Catarina Marques, Filipa Lima, Daniela Ferreira, Ana Oliveira
No abstract text is available yet for this article.
September 10, 2016: Journal of Bronchology & Interventional Pulmonology
Daniela Braconi, Giulia Bernardini, Alessandro Paffetti, Lia Millucci, Michela Geminiani, Marcella Laschi, Bruno Frediani, Barbara Marzocchi, Annalisa Santucci
Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism associated with a defective catabolism of phenylalanine and tyrosine leading to increased systemic levels of homogentisic acid (HGA). Excess HGA is partly excreted in the urine, partly accumulated within the body and deposited onto connective tissues under the form of an ochronotic pigment, leading to a range of clinical manifestations. No clear genotype/phenotype correlation was found in AKU, and today there is the urgent need to identify biomarkers able to monitor AKU progression and evaluate response to treatment...
August 30, 2016: International Journal of Biochemistry & Cell Biology
Michele Abate, Vincenzo Salini, Isabel Andia
Congenital metabolic disorders are consequence of defects involving single genes that code for enzymes. Blocking metabolic pathways, the defect leads to the shortage of essential compounds, and/or to the accumulation of huge quantities of precursors, which interfere with normal functions. Only few of these diseases are characterized by a clinically significant tendon involvement.Heterozygous Familial Hypercholesterolaemia results from the inheritance of a mutant low-density lipoprotein receptor gene; patients show high cholesterol levels, precocious coronary artery disease, and may develop tendon xanthomata (mainly in Achilles tendon)...
2016: Advances in Experimental Medicine and Biology
Kanchan Bilgi, Satish Jagadeeshan, Prabhakaran Venugopal
No abstract text is available yet for this article.
July 2016: Indian Journal of Anaesthesia
Todd P Pierce, Kimona Issa, Andres Ramirez, Salvatore Sclafani, Steven F Harwin, Anthony J Scillia, Aiman Rifai, Vincent K McInerney
Alkaptonuria is a rare hereditary metabolic disorder that leads to the accumulation of homogentisic acid accumulation and weakens the collagen, creating fissuring and articular cartilage degeneration. Therefore, we are reporting a multicenter case series of three patients (four arthroplasties) who presented with signs and symptoms of ochronotic arthropathy-and eventually underwent total knee arthroplasty (TKA)-and provide a review of the current literature on total joint arthroplasty in ochronotic osteoarthritis...
July 29, 2016: Surgical Technology International
Michela Geminiani, Silvia Gambassi, Lia Millucci, Pietro Lupetti, Giulia Collodel, Lucia Mazzi, Bruno Frediani, Daniela Braconi, Barbara Mazzocchi, Marcella Laschi, Giulia Bernardini, Annalisa Santucci
Alkaptonuria (AKU) is an ultra-rare autosomal genetic disorder caused by a defect in the activity of the enzyme homogentisate 1,2-dioxygenase (HGD) that leads to the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in the connective tissues causing a pigmentation called "ochronosis". The consequent progressive formation of ochronotic aggregates generate a severe condition of oxidative stress and inflammation in all the affected areas. Experimental evidences have also proved the presence of serum amyloid A (SAA) in several AKU tissues and it allowed classifying AKU as a secondary amyloidosis...
July 25, 2016: Journal of Cellular Physiology
Dhiraj J Trivedi, Prashanth Naik
Alkaptonuria is a genetic disorder, unknown to the general public and ignored by general physicians due to lack of awareness of its high prevalence. Increasing incidences of familial inheritance are recorded. A 41 years 8 months male with the swollen knee, chronic mechanical pain, restricted limping walk and tingling sensation in the limb. Also, has a complaint of the stiffness of back in the morning, which gets relieved by movement. Mild hyper pigmentation of pinna and sclera of eye. X-ray report reveals osteoarthritis of the knee and thoracic kyphosis...
July 2016: Indian Journal of Clinical Biochemistry: IJCB
Jorrit Jasper, Wieneke Metsaars, Joris Jansen
Ochronosis is a rare autosomal recessive metabolic disease caused by homogentisic acid oxidase enzyme deficiency. High homogentisic acid levels will eventually result in black deposits in skin, sclerae, connective tissues and urine (alkaptonuria). It can lead to early degeneration of connective tissues and cartilage. Ochronosis can damage normal cartilage, leading to secondary osteoarthritis. The diagnosis is often delayed because of its low prevalence and non-specific early symptoms. In our patient, the secondary osteoarthritis due to ochronosis deposits in the cartilage was treated by total knee arthroplasty, with good clinical outcome...
2016: BMJ Case Reports
Babak Mirzashahi, Abbas Tafakhori, Arvin Najafi, Mahmoud Farzan
Even though intervertebral disc degeneration can be found in the natural course of alkaptonuria, detection of the disease by black disc color change in a patient without any other presentation of alkaptonuria is an exceptionally rare condition. We have reported a very rare case of alkaptonuria presented with low back pain and steppage gait in a 51-year-old male with a complaint of chronic low-back pain and steppage gait who was operated on for prolapsed lumbar disc herniation. Intraoperatively his lumbar disk was discovered to be black...
April 2016: Archives of Bone and Joint Surgery
Bernardino Roca, Manuel Roca, Raquel Monferrer
Alkaptonuria, or ochronosis, a rare autosomal recessive metabolic disorder, causes an excess of homogentisic acid that results in dark pigmentation, calcification, and inflammation of cartilaginous and other tissues. Cardiovascular complications are also typical of the disease. We report the case of a 78-year-old male who presented with impressive osteoarticular changes and aortic stenosis associated with alkaptonuria.
March 2016: Connecticut Medicine
Emmanuel Bassily, M Cody O'Dell, Brad Homan, Christopher Wasyliw
A 50-year-old woman with a chronic polyarthropathy was seen by her orthopedist for long-standing back and shoulder and worsening hip pain. A lateral labral tear and chronic trochanteric bursitis were diagnosed on hip magnetic resonance imaging, which was otherwise unremarkable. Hip arthroscopy was performed revealing an unusual bluish-tinged femoral head articular surface. Computed tomography scans of the spine were also obtained.
July 1, 2016: Orthopedics
Adam M Taylor, Vishnu Kammath, Aaron Bleakley
The hypothesis that is proposed is that tyrosinase, an enzyme widely found within the human body is implicated in the ochronosis that occurs in alkaptonuria; an autosomal recessive condition first used by Archibald Garrod to describe the theory of "Inborn Errors of Metabolism." The disease results from the absence of a single enzyme in the liver that breaks down homogentisic acid; this molecule becomes systemically elevated in sufferers. The condition is characterised by a clinical triad of symptoms; homogentisic aciduria from birth, ochronosis (darkening) of collagenous tissues (from ∼30years of age) and ochronotic osteoarthropathy in weight bearing joints due to long term ochronosis in them (from ∼40years of age)...
June 2016: Medical Hypotheses
Gabriella Jacomelli, Vanna Micheli, Giulia Bernardini, Lia Millucci, Annalisa Santucci
OBJECTIVES: Two methods are described for homogentisic acid (HGA) determination in dried urine spots (DUS) on paper from Alkaptonuria (AKU) patients, devised for quick early diagnosis. AKU is a rare autosomal recessive disorder caused by deficiency of homogentisate 1,2-dioxygenase, yielding in accumulation of HGA. Its massive excretion causes urine darkening by exposure to air or alkalinization, and is a diagnostic marker. The deposition of polymers produced after HGA oxidation within the connective tissues causes ochronotic arthritis, a degenerative joint disease manifesting in adulthood and only rarely in childhood...
April 14, 2016: JIMD Reports
Jennifer R Stichman, Sterling G West
No abstract text is available yet for this article.
April 2016: Journal of Rheumatology
Krzysztof Cieszyński, Jakub Podgórny, Adrianna Mostowska, Paweł P Jagodziński, Alicja E Grzegorzewska
No abstract text is available yet for this article.
March 29, 2016: Polskie Archiwum Medycyny Wewnętrznej
Mark J Schuuring, Ben Delemarre, Ali M Keyhan-Falsafi, Ivo A van der Bilt
No abstract text is available yet for this article.
March 22, 2016: Circulation
Berardino Porfirio, Roberta Sestini, Greta Gorelli, Miriam Cordovana, Alessandro Mannoni, Jeanette L Usher, Wendy J Introne, William A Gahl, Thierry Vilboux
We sought to establish rapid and specific genotyping methods for G360R mutation and for seven tightly linked markers in the homogentisate dioxygenase gene to address the question of whether G360R is a mutational hot spot or the result of a founder effect, as it has been repeatedly found in alkaptonuric patients from a geographic isolate in Italy.For G360R and single nucleotide polymorphism genotyping, high-resolution melting analysis was performed. Microsatellites were analysed by multiplex PCR and capillary electrophoresis...
March 10, 2016: JIMD Reports
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