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1.
PLoS One ; 19(4): e0299689, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38656936

RESUMEN

The use of elephant ivory as a commodity is a factor in declining elephant populations. Despite recent worldwide elephant ivory trade bans, mammoth ivory trade remains unregulated. This complicates law enforcement efforts, as distinguishing between ivory from extant and extinct species requires costly, destructive and time consuming methods. Elephant and mammoth ivory mainly consists of dentine, a mineralized connective tissue that contains an organic collagenous component and an inorganic component of calcium phosphate minerals, similar in structure to hydroxyapatite crystals. Raman spectroscopy is a non-invasive laser-based technique that has previously been used for the study of bone and mineral chemistry. Ivory and bone have similar biochemical properties, making Raman spectroscopy a promising method for species identification based on ivory. This study aimed to test the hypothesis that it is possible to identify differences in the chemistry of mammoth and elephant ivory using Raman spectroscopy. Mammoth and elephant tusks were obtained from the Natural History Museum in London, UK. Included in this study were eight samples of ivory from Mammuthus primigenius, two samples of carved ivory bangles from Africa (Loxodonta species), and one cross section of a tusk from Elephas maximus. The ivory was scanned using an inVia Raman micro spectrometer equipped with a x50 objective lens and a 785nm laser. Spectra were acquired using line maps and individual spectral points were acquired randomly or at points of interest on all samples. The data was then analysed using principal component analysis (PCA) with use of an in-house MATLAB script. Univariate analysis of peak intensity ratios of phosphate to amide I and III peaks, and carbonate to phosphate peaks showed statistical differences (p<0.0001) in the average peak intensity ratios between Mammuthus primigenius, Loxodonta spp. and Elephas maximus. Full width at half maximum hight (FWHM)analysis of the phosphate peak demonstrated higher crystal maturity of Mammuthus primigenius compared to living elephant species. The results of the study have established that spectra acquired by Raman spectroscopy can be separated into distinct classes through PCA. In conclusion, this study has shown that well-preserved mammoth and elephant ivory has the potential to be characterized using Raman spectroscopy, providing a promising method for species identification. The results of this study will be valuable in developing quick and non-destructive methods for the identification of ivory, which will have direct applications in archaeology and the regulation of international trade.


Asunto(s)
Elefantes , Espectrometría Raman , Animales , Espectrometría Raman/métodos , Mamuts , Extinción Biológica , Análisis de Componente Principal , Conservación de los Recursos Naturales/métodos , Animales Salvajes , Fósiles , Comercio de Vida Silvestre
2.
Anat Sci Educ ; 2024 Apr 08.
Artículo en Inglés | MEDLINE | ID: mdl-38587085

RESUMEN

Anatomy has been integral to medical and health education for centuries, it has also had a significant role in wider public life, as an educational resource, a link to their health, and also as a darker deterrent. Historically, public engagement in anatomy is hallmarked by public dissections of convicted criminals across the globe. Artists, specifically non-medical men, such as Leonardo da Vinci, are reported to have participated in public dissection. Dissection would later rekindle public interest in anatomy as graverobbing led to the reform and regulation of anatomy in many countries. In recent years, there has been growing interest from the public in learning more about their bodies as health and well-being become of paramount importance, particularly following the COVID-19 pandemic. Anatomy sits in a prime position to direct and instigate conversations around health, well-being, and body image. Every human on earth possesses a perfect resource to look at and learn about. Models, art-based anatomical activities, and crafts provide active learning opportunities for the wider public around anatomy. Most recently, apps, games, and extended reality provide novel and insightful learning opportunities for the public relating to the body. Finally, training and resources must also be made available from institutions and professional bodies to anatomists to enable them to deliver engagement in an already congested and educationally heavy schedule. This resurgence of interest in anatomical public engagement sees anatomy re-enter the public spotlight, with more appropriate resources and educational settings to offer engagement with the aim of benefiting the public.

3.
Adv Exp Med Biol ; 1421: 3-13, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37524981

RESUMEN

Biomedical visualization has a long history as a tool for education around public health. However, recent advances in our understanding of how to be more effective at communicating complex scientific ideas to a public audience necessitate a re-examination of approaches to biomedical visualization. Scientific knowledge has expanded dramatically in the twenty-first century, as has its availability beyond the scientific arena. This chapter briefly discusses the historical approaches in biomedical visualization from the perspective of Western public health. It also outlines the approach that biomedical visualization should take according to best practices in effective science communication.


Asunto(s)
Comunicación , Conocimiento , Escolaridad
4.
Calcif Tissue Int ; 109(3): 291-302, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-34417863

RESUMEN

Osteoarthritis (OA) is one of the most prevalent conditions in the world, particularly in the developed world with a significant increase in cases and their predicted impact as we move through the twenty-first century and this will be exacerbated by the covid pandemic. The degeneration of cartilage and bone as part of this condition is becoming better understood but there are still significant challenges in painting a complete picture to recognise all aspects of the condition and what treatment(s) are most appropriate in individual causes. OA encompasses many different types and this causes some of the challenges in fully understanding the condition. There have been examples through history where much has been learnt about common disease(s) from the study of rare or extreme phenotypes, particularly where Mendelian disorders are involved. The often early onset of symptoms combined with the rapid and aggressive pathogenesis of these diseases and their predictable outcomes give an often-under-explored resource. It is these "rarer forms of disease" that William Harvey referred to that offer novel insights into more common conditions through their more extreme presentations. In the case of OA, GWAS analyses demonstrate the multiple genes that are implicated in OA in the general population. In some of these rarer forms, single defective genes are responsible. The extreme phenotypes seen in conditions such as Camptodactyly Arthropathy-Coxa Vara-pericarditis Syndrome, Chondrodysplasias and Alkaptonuria all present potential opportunities for greater understanding of disease pathogenesis, novel therapeutic interventions and diagnostic imaging. This review examines some of the rarer presenting forms of OA and linked conditions, some of the novel discoveries made whilst studying them, and findings on imaging and treatment strategies.


Asunto(s)
COVID-19 , Coxa Vara , Osteoartritis , Sinovitis , Humanos , Osteoartritis/genética , SARS-CoV-2
5.
Glob Chall ; 5(2): 2000102, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-33552556

RESUMEN

Melanins are a class of biopolymers that are widespread in nature and have diverse origins, chemical compositions, and functions. Their chemical, electrical, optical, and paramagnetic properties offer opportunities for applications in materials science, particularly for medical and technical uses. This review focuses on the application of analytical techniques to study melanins in multidisciplinary contexts with a view to their use as sustainable resources for advanced biotechnological applications, and how these may facilitate the achievement of the United Nations Sustainable Development Goals.

6.
Genome Biol Evol ; 13(3)2021 03 01.
Artículo en Inglés | MEDLINE | ID: mdl-33501983

RESUMEN

Trichoptera (caddisflies) play an essential role in freshwater ecosystems; for instance, larvae process organic material from the water and are food for a variety of predators. Knowledge on the genomic diversity of caddisflies can facilitate comparative and phylogenetic studies thereby allowing scientists to better understand the evolutionary history of caddisflies. Although Trichoptera are the most diverse aquatic insect order, they remain poorly represented in terms of genomic resources. To date, all long-read based genomes have been sequenced from individuals in the retreat-making suborder, Annulipalpia, leaving ∼275 Ma of evolution without high-quality genomic resources. Here, we report the first long-read based de novo genome assemblies of two tube case-making Trichoptera from the suborder Integripalpia, Agrypnia vestita Walker and Hesperophylax magnus Banks. We find that these tube case-making caddisflies have genome sizes that are at least 3-fold larger than those of currently sequenced annulipalpian genomes and that this pattern is at least partly driven by major expansion of repetitive elements. In H. magnus, long interspersed nuclear elements alone exceed the entire genome size of some annulipalpian counterparts suggesting that caddisflies have high potential as a model for understanding genome size evolution in diverse insect lineages.


Asunto(s)
Genómica , Holometabola/genética , Insectos/genética , Secuencias Repetitivas de Ácidos Nucleicos , Animales , Biodiversidad , Agua Dulce , Tamaño del Genoma , Holometabola/clasificación , Insectos/clasificación , Larva , Anotación de Secuencia Molecular , Filogenia
7.
GigaByte ; 2021: gigabyte34, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-36824347

RESUMEN

The mule deer (Odocoileus hemionus) is an ungulate species that is distributed in a range from western Canada to central Mexico. Mule deer are an essential source of food for many predators, are relatively abundant, and commonly make broad migration movements. A clearer understanding of the mule deer genome can improve our knowledge of its population genetics, movements, and demographic history, aiding in conservation efforts. Their large population size, continuous distribution, and diversity of habitat make mule deer excellent candidates for population genomics studies; however, few genomic resources are currently available for this species. Here, we sequence and assemble the mule deer genome into a highly contiguous chromosome-length assembly for use in future research using long-read sequencing and Hi-C technologies. We also provide a genome annotation and compare demographic histories of the mule deer and white-tailed deer using the pairwise sequentially Markovian coalescent model. We expect this assembly to be a valuable resource in the continued study and conservation of mule deer.

8.
J Econ Entomol ; 113(3): 1183-1194, 2020 06 06.
Artículo en Inglés | MEDLINE | ID: mdl-32304325

RESUMEN

Although international regulations have been successfully implemented to reduce the introduction and spread of plant pests through wood packaging material (WPM), wood-boring insects continue to be intercepted in WPM at U.S. ports of entry. Both hardwoods and softwoods are used in the construction of WPM for international trade; however, it is not clear if some types of wood pose higher risks than others for harboring wood borers. This study documented the taxonomic diversity of infested wood genera intercepted as a result of targeted WPM inspection at U.S. ports, and identified many of the wood-boring insects transported within them. The results of this study reveal associations among packaging woods, commodities, and shipment origins. The wood genera most frequently infested were Pinus Linnaeus (Pinales: Pinaceae), Picea Miller (Pinales: Pinaceae), and Populus Linnaeus (Malpighiales: Salicaceae), which were heavily represented as packaging for commodities such as stone, metal, vehicles, and machinery. In addition to these results, we summarized preferences by the wood borers to develop in living, stressed, dying, or dead hosts, the pest status of intercepted wood borers in their native and non-native ranges, and potential host range of intercepted wood borers to gauge potential for these taxa to become pests in North America. New possible host associations are reported for eight wood borer taxa. Taxonomy of host wood is presented as a new factor for consideration in pathway-level risk analysis of WPM, and the findings further reinforce the need for enhanced compliance with ISPM 15 to reduce entry of non-native wood-boring insects.


Asunto(s)
Escarabajos , Madera , Animales , Comercio , Insectos , Internacionalidad , América del Norte , Árboles
9.
Adv Exp Med Biol ; 1171: 127-135, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31823244

RESUMEN

Biomedical research is a diverse and rapidly evolving subject area. The research and development that takes place as part of the field is aimed at understanding subjects such as diseases, disease progression, their treatment(s), treatment impact on patients as well as the general increase in understanding of the advancement of health sciences. The money and time invested in research is vast and discovery of novel data and production of publication(s) is seen as success. However in today's connected world scientists have to do more to ensure that their research and the impact thereof, is better communicated to the wider audiences. One of the major means to do this is via public engagement, of which there are many ways to achieve this. Advances in technology have led to interactive and immersive visual technologies that enable the next phase of public engagement to be available to a greater audience.


Asunto(s)
Investigación Biomédica , Participación de la Comunidad , Investigación Biomédica/educación , Participación de la Comunidad/métodos , Humanos , Tecnología/tendencias
10.
Philos Trans R Soc Lond B Biol Sci ; 374(1784): 20190206, 2019 10 28.
Artículo en Inglés | MEDLINE | ID: mdl-31495307

RESUMEN

Caddisfly (Trichoptera) larvae assemble a variety of underwater structures using bioadhesive silk. The order is divided into two primary sub-orders distinguished by how the larvae deploy their silk. Foraging Integripalpia larvae construct portable tube cases. Annulipalpia larvae construct stationary retreats, some with suspended nets to capture food. To identify silk molecular adaptations that may have contributed to caddisfly diversification, we report initial characterization of silk from a net-spinner genus, Parapsyche, for comparison with the silk of a tube case-maker genus, Hesperophylax. Overall, general features of silk structure and processing are conserved across the sub-orders despite approximately 200 Ma of divergence: the H-fibroin proteins comprise repeating phosphoserine-rich motifs, naturally spun silk fibres contain approximately 1 : 1 molar ratios of divalent metal ions to phosphate, silk fibre precursors are stored as complex fluids of at least two types of complexes, and silk gland proteins contain only traces of divalent metal ions, suggesting metal ions that solidify the fibres are absorbed from the aqueous environment after silk extrusion. However, the number and arrangement of the repeating phosphoserine blocks differ between genera, suggesting molecular adaptation of H-fibroin through duplication and shuffling of conserved structural modules may correspond with the radiation of caddisflies into diverse environments. This article is part of the theme issue 'Transdisciplinary approaches to the study of adhesion and adhesives in biological systems'.


Asunto(s)
Insectos/química , Seda/química , Animales , Insectos/crecimiento & desarrollo , Larva/química , Larva/crecimiento & desarrollo , Especificidad de la Especie
11.
Anat Sci Educ ; 11(2): 117-123, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-29112336

RESUMEN

Public knowledge of the anatomical "self" is lacking and evidence points towards a growing need for anatomy education to the wider public. The public were offered the opportunity to learn human anatomy and complete an anatomical knowledge survey afterwards. Sixty-three participants volunteered to attempt to place 20 anatomical structures on a blank human body template. Responses were scored independently and then collated. A mixed effects logistic model was used to examine any associations with participants' as a random effect and all other factors as fixed effects. Results showed a statistically significant quadratic trend with age. Participants in health-related employment scored significantly higher than those not in health-related employment. There was a significant interaction between gender and organ type with males scoring higher than females in identifying muscles, but not in identifying internal organs. The current study demonstrates the general public's eagerness to learn anatomy despite their limited knowledge of the human body, and the need for widening participation. Furthermore, it raises an awareness of the anatomical literacy needs of the general public, especially in school children and young adults. Furthermore, it emphasizes the value of health literacy as a focus in undergraduate medical education. Anatomy literacy appears to be neglected, and this experience provides an example of a possible mode of public engagement in anatomy. Anat Sci Educ 11: 117-123. © 2017 American Association of Anatomists.


Asunto(s)
Anatomía/educación , Conocimientos, Actitudes y Práctica en Salud , Alfabetización en Salud/estadística & datos numéricos , Educación del Paciente como Asunto , Adolescente , Adulto , Factores de Edad , Anciano , Niño , Educación de Pregrado en Medicina/métodos , Femenino , Humanos , Aprendizaje , Masculino , Persona de Mediana Edad , Pennsylvania , Instituciones Académicas , Factores Sexuales , Encuestas y Cuestionarios , Adulto Joven
12.
JIMD Rep ; 35: 79-85, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-27943071

RESUMEN

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. We compared the properties of HGA-based pigments that were freshly prepared to those stored in solution for 2 years. Our results demonstrate the importance of pH in the polymerisation process and that colour change seen in solution (analogous to AKU patient urine) is not initially due to presence of ochronotic pigment but the quinone intermediary. In addition, we observed that pigment formation from HGA can occur in the presence of tyrosine, without the inclusion of this tyrosine into the pigment. These observations have positive implications for patients with alkaptonuria; an increased understanding of the pigment polymer chemistry, the presence of an intermediary and their kinetics present more therapeutic opportunities for treating the condition, including preventing the pigment from forming, binding or reversing established pigmentation. AKU patients treated with nitisinone show elevated tyrosine levels causing side effects such as corneal opacities; our data demonstrates that elevated tyrosine levels should not contribute or add to the ochronotic pigment burden in these patients.

13.
Rheumatology (Oxford) ; 56(1): 156-164, 2017 01.
Artículo en Inglés | MEDLINE | ID: mdl-28028161

RESUMEN

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. METHODS: With informed patient consent, hip and knee cartilages were obtained at surgery for arthropathy due to AKU (n = 6; 2 knees/4 hips) and OA (n = 12; 5 knees/7 hips); healthy non-arthritic (non-OA n = 6; 1 knee/5 hips) cartilages were obtained as waste from trauma surgery. We measured cartilage concentrations (normalized to dry weight) of racemized aspartate, GAG, COMP and deamidated COMP (D-COMP). Unpaired AKU, OA and non-OA samples were compared by non-parametric Mann-Whitney U test. RESULTS: Despite more extractable total protein being obtained from AKU cartilage than from OA or non-OA cartilage, there was significantly less extractable GAG, COMP and D-COMP in AKU samples compared with OA and non-OA comparators. Racemized Asx (aspartate and asparagine) was significantly enriched in AKU cartilage compared with in OA cartilage. CONCLUSIONS: These novel data represent the first examination of cartilage matrix components in a sample of patients with AKU, representing almost 10% of the known UK alkaptonuric population. Compared with OA and non-OA, AKU cartilage demonstrates a very low turnover state and has low levels of extractable matrix proteins.


Asunto(s)
Envejecimiento/metabolismo , Alcaptonuria/metabolismo , Cartílago Articular/metabolismo , Artropatías/metabolismo , Ocronosis/metabolismo , Adulto , Anciano , Anciano de 80 o más Años , Ácido Aspártico/metabolismo , Biomarcadores/metabolismo , Proteína de la Matriz Oligomérica del Cartílago/metabolismo , Estudios de Casos y Controles , Femenino , Glicosaminoglicanos/metabolismo , Articulación de la Cadera , Humanos , Articulación de la Rodilla , Masculino , Persona de Mediana Edad , Osteoartritis de la Cadera/metabolismo , Osteoartritis de la Rodilla/metabolismo , Adulto Joven
14.
Med Hypotheses ; 91: 77-80, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27142149

RESUMEN

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). Tyrosinase, a polyphenol oxidase has been shown in many species to contribute to the darkening of tissues in many organisms; including humans in the production of melanin. Tyrosinase under the right conditions shows alterations in its substrate specificity and may contribute to the darkening seen in AKU where it moves away from polymerising tyrosine but also homogentisic acid, the causative molecule in alkaptonuria, that is present in excess.


Asunto(s)
Alcaptonuria/enzimología , Alcaptonuria/fisiopatología , Monofenol Monooxigenasa/fisiología , Ocronosis/enzimología , Ocronosis/fisiopatología , Animales , Catecol Oxidasa/metabolismo , Colágeno/metabolismo , Genes Recesivos , Ácido Homogentísico/metabolismo , Humanos , Melaninas/metabolismo , Modelos Teóricos , Pigmentación
15.
J Med Biogr ; 24(4): 500-506, 2016 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25735741

RESUMEN

Sir William Turner, a Lancastrian, was renowned as a scientist, anatomist and a great reformer of medical education. His students became anatomists at various international institutions, which consequently shaped the future of anatomy as a subject matter both in the United Kingdom and in South Africa. Although Turner's accomplishments have been documented, little is known about the details that determined his career path and the individuals that shaped his future. Here the authors aim to highlight some aspects of Turner's academic achievements and his personal life as well as how he crossed paths with other great minds of the Victorian era including Richard Owen, Charles Darwin, James Paget and Joseph Lister.


Asunto(s)
Anatomistas/historia , Historia del Siglo XIX , Historia del Siglo XX , Sudáfrica , Reino Unido
16.
Ann Rheum Dis ; 73(1): 284-9, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-23511227

RESUMEN

BACKGROUND: Alkaptonuria (AKU) is a rare metabolic disease caused by deficiency of homogentisate 1,2 dioxygenase, an enzyme involved in tyrosine catabolism, resulting in increased circulating homogentisic acid (HGA). Over time HGA is progressively deposited as a polymer (termed ochronotic pigment) in collagenous tissues, especially the cartilages of weight bearing joints, leading to severe joint disease. OBJECTIVES: To characterise blood biochemistry and arthropathy in the AKU mouse model (Hgd-/-). To examine the therapeutic effect of long-term treatment with nitisinone, a potent inhibitor of the enzyme that produces HGA. METHODS: Lifetime levels of plasma HGA from AKU mice were measured by high-performance liquid chromatography (HPLC). Histological sections of the knee joint were examined for pigmentation. The effect of nitisinone treatment in both tissues was examined. RESULTS: Mean (±SE) plasma HGA levels were 3- to 4-fold higher (0.148±0.019 mM) than those recorded in human AKU. Chondrocyte pigmentation within the articular cartilage was first observed at 15 weeks, and found to increase steadily with mouse age. Nitisinone treatment reduced plasma HGA in AKU mice throughout their lifetime, and completely prevented pigment deposition. CONCLUSIONS: The AKU mouse was established as a model of both the plasma biochemistry of AKU and its associated arthropathy. Early-stage treatment of AKU patients with nitisinone could prevent the development of associated joint arthropathies. The cellular pathology of ochronosis in AKU mice is identical to that observed in early human ochronosis and thus is a model in which the early stages of joint pathology can be studied and novel interventions evaluated.


Asunto(s)
Ciclohexanonas/farmacología , Inhibidores Enzimáticos/farmacología , Artropatías/tratamiento farmacológico , Artropatías/fisiopatología , Nitrobenzoatos/farmacología , Ocronosis/tratamiento farmacológico , Ocronosis/fisiopatología , 4-Hidroxifenilpiruvato Dioxigenasa/antagonistas & inhibidores , 4-Hidroxifenilpiruvato Dioxigenasa/sangre , 4-Hidroxifenilpiruvato Dioxigenasa/genética , Alcaptonuria , Animales , Condrocitos/efectos de los fármacos , Condrocitos/patología , Modelos Animales de Enfermedad , Femenino , Humanos , Artropatías/genética , Articulación de la Rodilla/patología , Articulación de la Rodilla/fisiopatología , Masculino , Ratones , Ratones Endogámicos BALB C , Ratones Noqueados , Ocronosis/genética
17.
Curr Opin Rheumatol ; 25(2): 198-203, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23318736

RESUMEN

PURPOSE OF REVIEW: Osteoarthritis is the most common form of rheumatologic disease, with numerous factors increasing the risk of developing the condition; calcification of cartilage is common place in osteoarthritis. Regardless of these risk factors, certain disorders predispose individuals to developing arthritis. Pathologic mechanisms in cartilage calcification and advances in their understanding are reviewed alongside metabolic and endocrine arthritis. RECENT FINDINGS: There is growing evidence suggesting that changes in chondrocytes and the extracellular environment both contribute to the calcification. Further evidence suggests that signaling cascades that are involved in physiological mineralisation are involved in the pathological process(es); data in mouse models continue to add weight to these hypotheses and correlate with human osteoarthritis data. Recent study of rare forms of arthritis is adding useful information that may help understand joint diseases in the general population and how therapies may be targeted. SUMMARY: There is little doubt that calcium-containing crystals are involved in the osteoarthritis process contributing both biomechanically and biochemically. Understanding the processes involved provides important therapeutic opportunities. Furthermore, important information is often discovered in studying rare conditions in which these pathologies are inevitable.


Asunto(s)
Calcinosis/complicaciones , Enfermedades del Sistema Endocrino/complicaciones , Enfermedades Metabólicas/complicaciones , Osteoartritis/etiología , Animales , Calcinosis/metabolismo , Calcinosis/patología , Cartílago Articular/metabolismo , Cartílago Articular/patología , Modelos Animales de Enfermedad , Enfermedades del Sistema Endocrino/metabolismo , Enfermedades del Sistema Endocrino/patología , Humanos , Enfermedades Metabólicas/metabolismo , Enfermedades Metabólicas/patología , Ratones , Osteoartritis/metabolismo , Osteoartritis/patología , Factores de Riesgo , Transducción de Señal
18.
Rare Dis ; 1: e27475, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-25003018

RESUMEN

Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth. Over time patients develop other manifestations of AKU, due to deposition of HGA in collagenous tissues, namely ochronosis and ochronotic osteoarthropathy.   Although this condition does not reduce life expectancy, it significantly affects quality of life. The natural history of this condition is becoming better understood, despite gaps in knowledge. Clinical assessment of the condition has also improved along with the development of a potentially disease-modifying therapy. Furthermore, recent developments in AKU research have led to new understanding of the disease, and further study of the AKU arthropathy has the potential to influence therapy in the management of osteoarthritis.

19.
Methods Mol Biol ; 816: 3-18, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22130918

RESUMEN

Osteoblast cultures can be used to investigate the mechanisms of bone formation, to probe the cellular and molecular basis of bone disease, and to screen for potential therapeutic agents that affect bone formation. Here, we describe the methods for establishing and characterising primary human osteoblast cultures.


Asunto(s)
Técnicas de Cultivo de Célula/métodos , Osteoblastos/citología , Osteoblastos/metabolismo , Diferenciación Celular , Línea Celular Tumoral , Separación Celular/métodos , Células Cultivadas , Criopreservación/métodos , Humanos , Osteogénesis , Osteosarcoma/metabolismo
20.
J Inherit Metab Dis ; 34(6): 1137-40, 2011 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-21735270

RESUMEN

UNLABELLED: In pilot studies of the usefulness of solid state nuclear magnetic resonance spectroscopy in characterizing chemical and molecular structural effects of alkaptonuria on connective tissue, we have obtained (13) C spectra from articular cartilage from an AKU patient. An apparently normal anatomical location yielded a cross polarization magic angle spinning spectrum resembling literature spectra and dominated by collagen and glycosaminoglycan signals. All spectral linewidths from strongly pigmented ochronotic cartilage however were considerably increased relative to the control indicating a marked increase in collagen molecular disorder. This disordering of cartilage structural protein parallels, at the atomic level, the disordering revealed at higher length scales by microscopy. We also demonstrate that the abnormal spectra from ochronotic cartilage fit with the abnormality in the structure of collagen fibres at the ultrastructural level, whereby large ochronotic deposits appear to alter the structure of the collagen fibre by invasion and cross linking. SUMMARY: Increased signal linewidths in solid state NMR spectra of ochronotic articular cartilage from an AKU patient relative to linewidths in normal, control, cartilage reveals a marked decrease in collagen molecular order in the diseased tissue. This atomic level disordering parallels higher length scale disorder revealed by microscopic techniques.


Asunto(s)
Alcaptonuria/complicaciones , Enfermedades de los Cartílagos/patología , Cartílago Articular/química , Colágeno/análisis , Colágeno/ultraestructura , Glicosaminoglicanos/análisis , Ocronosis/diagnóstico por imagen , Anciano , Enfermedades de los Cartílagos/etiología , Cartílago Articular/ultraestructura , Colágeno/química , Femenino , Glicosaminoglicanos/química , Humanos , Espectroscopía de Resonancia Magnética/métodos , Ocronosis/etiología , Proyectos Piloto , Ultrasonografía
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