Database : MEDLINE
Search on : Alkaptonuria [Words]
References found : 880 [refine]
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[PMID]: 29510281
[Au] Autor:Karadag A; Sandal E; Middlebrooks EH; Senoglu M
[Ad] Address:Department of Neurosurgery, Saglik Bilimleri University, Tepecik Research and Training Hospital, Izmir, Turkey.
[Ti] Title:Surgical Management in Cervical Spondylotic Myelopathy due to Alkaptonuria.
[So] Source:World Neurosurg;, 2018 Mar 03.
[Is] ISSN:1878-8769
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:Publisher

  2 / 880 MEDLINE  
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[PMID]: 29501639
[Au] Autor:Gottschalk BH; Blankenstein J; Guo L
[Ad] Address:Division of Cardiac Surgery, London Health Sciences Centre, Western University, London, Ontario, Canada.
[Ti] Title:Ochronosis of Mitral Valve and Coronary Arteries.
[So] Source:Ann Thorac Surg;, 2018 Mar 01.
[Is] ISSN:1552-6259
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract: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. We describe the case of a 67-year-old lady with a history of alkaptonuria with severe ochronosis of the coronary arteries and mitral valve, requiring coronary bypass and mitral valve replacement.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180304
[Lr] Last revision date:180304
[St] Status:Publisher

  3 / 880 MEDLINE  
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[PMID]: 29461623
[Au] Autor:Öztekin N; Balta GS; Serif Cansever M
[Ad] Address:Department of Chemistry, Istanbul Technical University, Istanbul, Turkey.
[Ti] Title:Determination of homogentisic acid in urine for diagnosis of alcaptonuria: Capillary electrophoretic method optimization using experimental design.
[So] Source:Biomed Chromatogr;, 2018 Feb 20.
[Is] ISSN:1099-0801
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Homogentisic acid (HGA) is a diagnostic metabolite that accumulates in the urine and tissues of patients with alkaptonuria which is a rare autosomal recessive disease. HGA is a specific metabolite in urine and serum, which is used for diagnosis of alkaptonuria. This study presents an inexpensive and easy capillary electrophoretic (CE) method for the quantitative determination of HGA in urine samples. CE method were optimized using full factorial experimental design. The optimal separation electrolyte and separation voltage were revealed as 45 mmol/L phosphate buffer at pH 7.0 and 22 kV, respectively. Under these conditions the presence of HGA is detected in 6 min. Repeatability of migration times and corrected peak areas of HGA (as R.S.D.%) were found as 0.37 and 1.99, respectively. The detection limit (LOD) was 0.56 µg/mL as 3 times of the average noise and the quantification limit (LOQ) was 1.85 µg/mL as 10 times of the average noise for HGA. Urine samples were directly injected to the capillary without any pretreatment step.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[St] Status:Publisher
[do] DOI:10.1002/bmc.4216

  4 / 880 MEDLINE  
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[PMID]: 29459112
[Au] Autor:Kovac P; Mis K; Pirkmajer S; Mars T; Klokocovnik T; Kotnik G; Podbregar E; Podbregar M
[Ad] Address:Clinical Department for Anesthesiology and Surgical Intensive Care Unit, University Medical Centre Ljubljana, Ljubljana, Slovenia.
[Ti] Title:How to Measure Tissue Oxygenation Using Near-Infrared Spectroscopy in a Patient With Alkaptonuria.
[So] Source:J Cardiothorac Vasc Anesth;, 2018 Jan 31.
[Is] ISSN:1532-8422
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180220
[Lr] Last revision date:180220
[St] Status:Publisher

  5 / 880 MEDLINE  
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[PMID]: 29353057
[Au] Autor:Brunetti G; Tummolo A; D'Amato G; Gaeta A; Ortolani F; Piacente L; Giordano P; Colucci S; Grano M; Papadia F; Faienza MF
[Ad] Address:Department of Basic Medical Sciences, Neuroscience and Sense Organs, Section of Human Anatomy and Histology, University "A. Moro" of Bari, Bari, Italy. Electronic address: giacomina.brunetti@uniba.it.
[Ti] Title:Mechanisms of Enhanced Osteoclastogenesis in Alkaptonuria.
[So] Source:Am J Pathol;, 2018 Jan 17.
[Is] ISSN:1525-2191
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Alkaptonuria (AKU) is a rare disorder characterized by the deficiency of the enzyme homogentisate 1,2-dioxygenase and consequent homogentisate accumulation, which leads to progressive and severe osteoarthopathy starting from the second decade of life. Thus, in AKU patients, bone involvement represents an important clinical issue, which we investigated. Serum levels of receptor activator of NF-κB ligand (RANKL), osteoprotegerin, sclerostin, Dickkopf-1, and bone remodeling markers were measured in nine AKU patients (two children and seven adults) and 22 controls, together with lumbar spine bone mineral density (LS-BMD) and femoral-BMD. In the two AKU children, the average of LS-BMD and femoral-BMD Z-scores were within the normal range, but reduced with respect to the controls. Otherwise, in the adult AKU patients, LS-BMD T-score was inside the normal range, but femoral-BMD T-score reached osteopenic levels. Consistently, in AKU adults, higher RANKL and C-terminal telopeptide of collagen type 1 and lower osteoprotegerin levels were observed than in controls. Otherwise, spontaneous osteoclastogenesis was already evident in peripheral blood mononuclear cell cultures from AKU children, together with a high percentage of circulating osteoclast precursors. Osteoclastogenesis was sustained by the high levels of tumor necrosis factor-α, RANK, RANKL, and LIGHT. In conclusion, the altered osteoclastogenesis was observed already in AKU children, despite the absence of evident injury. Thus, a preventive approach in young patients, targeting osteoclast activity, may prevent the macroscopic bone disease that appears in adult AKU.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180219
[Lr] Last revision date:180219
[St] Status:Publisher

  6 / 880 MEDLINE  
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[PMID]: 29395825
[Au] Autor:Namekawa M; Ishida K; Kimura M; Fujii C; Yamashita S
[Ad] Address:Department of Anesthesiology, Kurashiki Central Hospital, Kurashiki, Okayama, Japan. Electronic address: mn14383@kchnet.or.jp.
[Ti] Title:Alkaptonuric Ochronosis and the Failure of Regional Cerebral Tissue Oxygen Saturation Monitoring by Two Different Near-infrared Spectroscopy Devices.
[So] Source:J Cardiothorac Vasc Anesth;, 2017 Dec 29.
[Is] ISSN:1532-8422
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180203
[Lr] Last revision date:180203
[St] Status:Publisher

  7 / 880 MEDLINE  
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[PMID]: 29362952
[Au] Autor:van Karnebeek CDM; Wortmann SB; Tarailo-Graovac M; Langeveld M; Ferreira CR; van de Kamp JM; Hollak CE; Wasserman WW; Waterham HR; Wevers RA; Haack TB; Wanders RJA; Boycott KM
[Ad] Address:Department of Pediatrics and Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands. c.d.vankarnebeek@amc.nl.
[Ti] Title:The role of the clinician in the multi-omics era: are you ready?
[So] Source:J Inherit Metab Dis;, 2018 Jan 23.
[Is] ISSN:1573-2665
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Since Garrod's first description of alkaptonuria in 1902, and newborn screening for phenylketonuria introduced in the 1960s, P4 medicine (preventive, predictive, personalized, and participatory) has been a reality for the clinician serving patients with inherited metabolic diseases. The era of high-throughput technologies promises to accelerate its scale dramatically. Genomics, transcriptomics, epigenomics, proteomics, glycomics, metabolomics, and lipidomics offer an amazing opportunity for holistic investigation and contextual pathophysiologic understanding of inherited metabolic diseases for precise diagnosis and tailored treatment. While each of the -omics technologies is important to systems biology, some are more mature than others. Exome sequencing is emerging as a reimbursed test in clinics around the world, and untargeted metabolomics has the potential to serve as a single biochemical testing platform. The challenge lies in the integration and cautious interpretation of these big data, with translation into clinically meaningful information and/or action for our patients. A daunting but exciting task for the clinician; we provide clinical cases to illustrate the importance of his/her role as the connector between physicians, laboratory experts and researchers in the basic, computer, and clinical sciences. Open collaborations, data sharing, functional assays, and model organisms play a key role in the validation of -omics discoveries. Having all the right expertise at the table when discussing the diagnostic approach and individualized management plan according to the information yielded by -omics investigations (e.g., actionable mutations, novel therapeutic interventions), is the stepping stone of P4 medicine. Patient participation and the adjustment of the medical team's plan to his/her and the family's wishes most certainly is the capstone. Are you ready?
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180124
[Lr] Last revision date:180124
[St] Status:Publisher
[do] DOI:10.1007/s10545-017-0128-1

  8 / 880 MEDLINE  
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[PMID]: 29147990
[Au] Autor:Davison AS; Norman B; Milan AM; Hughes AT; Khedr M; Rovensky J; Gallagher JA; Ranganath LR
[Ad] Address:Department of Clinical Biochemistry and Metabolic Medicine, Liverpool Clinical Laboratories, Royal Liverpool University Hospitals Trust, Liverpool, UK. andrew.davison@rlbuht.nhs.uk.
[Ti] Title:Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment.
[So] Source:JIMD Rep;, 2017 Nov 17.
[Is] ISSN:2192-8304
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:BACKGROUND: One of the major metabolic consequences of using nitisinone to treat patients with alkaptonuria is that circulating tyrosine concentrations increase. As tyrosine is required for the biosynthesis of catecholamine neurotransmitters, it is possible that their metabolism is altered as a consequence. Herein we report the 24-h urinary excretion of normetadrenaline (NMA), metadrenaline (MA), 3-methoxytyramine (3-MT) (catecholamine metabolites) and 5-hydroxyindole acetic acid (5-HIAA, metabolite of serotonin) in a cohort of AKU patients before and after a 4-week treatment trial with nitisinone. MATERIALS AND METHODS: 24 h urinary excretions of NMA, MA, 3-MT and 5-HIAA were determined by liquid chromatography tandem mass spectrometry. Interassay coefficient of variation was <10% for all analytes measured, at all concentrations tested. RESULTS: Urine samples were assayed at baseline (pre-nitisinone, n = 36) and 4 weeks later; 7 received no nitisinone (4 male, mean age (±SD) 46.3 (16.4) years), and 29 received a daily dose of nitisinone [1 mg (n = 7, 6 male, mean age 45.9 (10.9) years), 2 mg (n = 8, 5 male, mean age 43.9 (13.7) years), 4 mg (n = 8, 5 male, mean age 47.3 (10.7) years) and 8 mg (n = 6, 4 male, mean age 53.8 (8.3) years)]. 3-MT concentrations increase significantly (p < 0.01, at all doses) following nitisinone therapy but not in a dose-dependent manner. NMA concentrations decreased (p < 0.05, at all doses) following nitisinone therapy at all doses. 5-HIAA concentrations decreased following nitisinone therapy and were significantly lower at a daily dose of 8 mg only (p < 0.05). CONCLUSIONS: This study shows that catecholamine and serotonin metabolism is altered by treatment with nitisinone.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171117
[Lr] Last revision date:171117
[St] Status:Publisher
[do] DOI:10.1007/8904_2017_72

  9 / 880 MEDLINE  
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[PMID]: 29113706
[Au] Autor:Tanoglu O; Arican G; Özmeriç A; Alemdaroglu KB; Çaydere M
[Ad] Address:Specialist in Orthopaedics, Orthopaedics and Traumatology Clinics, Ankara Research and Training Hospital, Ankara, Turkey. Electronic address: drtanoglu@gmail.com.
[Ti] Title:Calcaneal Avulsion of an Ochronotic Achilles Tendon: A Case Report.
[So] Source:J Foot Ankle Surg;, 2017 Nov 04.
[Is] ISSN:1542-2224
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. To the best of our knowledge, little information has been reported of this pathology in the Achilles tendon and the surgical management.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171108
[Lr] Last revision date:171108
[St] Status:Publisher

  10 / 880 MEDLINE  
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[PMID]: 29092008
[Au] Autor:Barbato L; Musso P; Marra S; Comoglio C
[Ad] Address:Department of Cardiovascular, Maria Pia Hospital, GVM Care & Research, Torino, Italy.
[Ti] Title:Woman in black: the cardiac ochronosis with severe aortic valve stenosis.
[So] Source:Eur J Cardiothorac Surg;, 2017 Oct 28.
[Is] ISSN:1873-734X
[Cp] Country of publication:Germany
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171101
[Lr] Last revision date:171101
[St] Status:Publisher
[do] DOI:10.1093/ejcts/ezx371


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