{"id":12360,"date":"2024-10-11T22:55:07","date_gmt":"2024-10-11T20:55:07","guid":{"rendered":"https:\/\/valintermed.com\/?p=12360"},"modified":"2024-10-11T22:55:07","modified_gmt":"2024-10-11T20:55:07","slug":"osteopoykiloz","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/osteopoietic-syndrome\/","title":{"rendered":"Osteopoikilosis"},"content":{"rendered":"<div class=\"fpm_start\"><\/div>\n<p>Osteopoikilosis is a rare genetic disorder characterized by abnormal osteogenesis, leading to excessive bone formation and disruption of normal osteoclastic remodeling. This pathology often occurs against the background of mutations in the genes responsible for the development of osteoclasts, which leads to a disruption of their function and subsequent accumulation of mineral components in bone tissue. As a result, changes in the structure and density of bones are observed, which can lead to their pathological strength, as well as an increased risk of fractures and other complications. Osteopoikilosis can also be accompanied by clinical manifestations such as pain syndrome, limited mobility, and various systemic disorders.<\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-flat ez-toc-counter ez-toc-light-blue ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Content<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewbox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" 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href=\"https:\/\/valintermed.com\/en\/medlibrary\/osteopoietic-syndrome\/#%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\" >History of the disease and interesting historical facts<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/osteopoietic-syndrome\/#%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\" >Epidemiology<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/osteopoietic-syndrome\/#%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\" >Genetic predisposition to this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/osteopoietic-syndrome\/#%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Risk factors for the development of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/osteopoietic-syndrome\/#%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Diagnosis of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/osteopoietic-syndrome\/#%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\" >Treatment<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/osteopoietic-syndrome\/#%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >List of medications used to treat this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/osteopoietic-syndrome\/#%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Disease monitoring<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/osteopoietic-syndrome\/#%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Age-related features of the disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/osteopoietic-syndrome\/#%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\" >Questions and Answers<\/a><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\"><\/span>History of the disease and interesting historical facts<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The history of osteopoikilosis can be traced back to the late 19th century, when clinical cases similar to our modern understanding of the disease were first described. In 1904, French physician Leon Pujol first used the term osteopoikilosis to describe bone abnormalities in a patient. Since then, many studies have been conducted that have deepened our understanding of the pathogenesis of the disease and its clinical manifestations. In the 20th century, with the development of radiology and other imaging techniques, the medical community became more confident in diagnosing osteopoikilosis, which contributed to further study and development of treatment methods. Particular attention should be paid to the genetic studies of recent decades, which have identified specific genes and mutations associated with the development of osteopoikilosis, opening up new horizons for a better understanding of the pathology.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\"><\/span>Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Osteopoikilosis is a relatively rare disease both in the general population and among genetic diseases. Current epidemiological data indicate its prevalence at the level of 1 case per 1 million population. However, according to some sources, among certain ethnic groups, for example, among peoples inhabiting mountainous regions, the incidence may be higher. It is important to note that osteopoikilosis is most often detected in childhood and adolescence, although cases of the disease in older people are also not uncommon. The severity of symptoms may vary, which makes it difficult to estimate the true incidence. <\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\"><\/span>Genetic predisposition to this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Genetic predisposition to osteopoikilosis is studied taking into account its hereditary nature. Most often, the disease is associated with mutations in genes responsible for the adequate functioning of osteoclasts. To date, one of the most studied genes is the **ORN** gene, which codes for osteoclasts - cells responsible for cellular metabolism and bone tissue remodeling. Mutations in this gene can lead to a disruption of its functions, which causes osteopoikilosis. There is also evidence of the involvement of other genes, such as **RANK**, which is involved in the process of osteoclast activation. <\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Risk factors for the development of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Risk factors for osteopoikilosis can be divided into several categories:<\/p>\n<ul>\n<li><strong>Genetic factors:<\/strong> presence of a family history of osteopoikilosis, presence of mutations in genes associated with impaired osteoclastic remodeling.<\/li>\n<li><strong>Physical factors:<\/strong> injuries and bone fractures, which can worsen the symptoms of the disease.<\/li>\n<li><strong>Chemical factors:<\/strong> exposure to toxic substances and drugs that contribute to the disruption of metabolic processes in bones.<\/li>\n<li><strong>Other factors:<\/strong> Some types of diseases, such as endocrine disorders, can contribute to the deterioration of the condition and the development of osteopoikilosis.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Diagnosis of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Diagnosis of osteopoikilosis includes several key stages:<\/p>\n<ul>\n<li><strong>Main symptoms:<\/strong> bone pain, bone deformation, limited mobility, possible inflammatory reactions.<\/li>\n<li><strong>Laboratory tests:<\/strong> blood tests for calcium and phosphorus levels, as well as determination of biochemical markers of bone tissue.<\/li>\n<li><strong>Radiological examinations:<\/strong> X-rays and MRIs help visualize changes in bone structure.<\/li>\n<li><strong>Other types of diagnostics:<\/strong> Genetic testing to detect mutations may be performed in patients suspected of having osteopoikilosis.<\/li>\n<li><strong>Differential diagnosis:<\/strong> It is important to distinguish osteopoikilosis from other diseases such as osteoporosis or pain syndrome associated with trauma.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\"><\/span>Treatment<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Treatment of osteopoikilosis can be varied and include both general and specialized approaches:<\/p>\n<ul>\n<li><strong>General treatment:<\/strong> includes maintaining a healthy lifestyle, regular physical activity within the patient&#039;s capabilities, and a diet rich in calcium and vitamin D.<\/li>\n<li><strong>Pharmacological treatment:<\/strong> may include drugs aimed at improving bone metabolism, such as bisphosphonates.<\/li>\n<li><strong>Surgical treatment:<\/strong> In some cases, surgery may be required to correct deformities or fix fractures.<\/li>\n<li><strong>Other types of treatment:<\/strong> Physiotherapy and rehabilitation play an important role in the recovery process of patients after exacerbations and surgical interventions.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>List of medications used to treat this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Some of the medications used to treat osteopoikilosis include:<\/p>\n<ul>\n<li>Bisphosphonates (eg, Allendronate)<\/li>\n<li>Paratide hormone (eg, Theraparatide)<\/li>\n<li>Calcitonin<\/li>\n<li>Vitamin D and its derivatives<\/li>\n<li>Calcium supplements<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Disease monitoring<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Monitoring of osteopoikilosis involves regular follow-up examinations to assess the patient&#039;s condition:<\/p><script data-noptimize=\"\" data-wpfc-render=\"false\">\nfpm_start( \"true\" );\n<\/script>\n\n<ul>\n<li><strong>Control stages:<\/strong> regular X-ray examinations, measurements of calcium and phosphorus levels in the blood, assessment of symptoms.<\/li>\n<li><strong>Forecast:<\/strong> Despite the high probability of complications, with complex therapy it is possible to improve the quality of life.<\/li>\n<li><strong>Complications:<\/strong> pathologies of the locomotor system, fractures and deformations often occur, which require special treatment.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Age-related features of the disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Osteopoikilosis can manifest itself in different ways depending on the patient&#039;s age:<\/p>\n<ul>\n<li><strong>In children:<\/strong> the disease can manifest itself more acutely and lead to significant skeletal deformities.<\/li>\n<li><strong>In adolescents:<\/strong> There is often a sharp increase in symptoms during puberty due to hormonal changes.<\/li>\n<li><strong>In adults:<\/strong> Symptoms may be less severe, but the risk of fractures and other complications increases with age.<\/li>\n<li><strong>In the elderly:<\/strong> There is a significantly increased risk of developing osteoporosis in the presence of osteopoikilosis.<\/li>\n<\/ul>\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\"><\/span>Questions and Answers<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li><strong>What is osteopoikilosis?<\/strong> Osteopoikilosis is a genetic disorder characterized by abnormal bone formation and impaired osteoclastic remodeling.<\/li>\n<li><strong>What are the main symptoms of osteopoikilosis?<\/strong> The main symptoms include bone pain, limited mobility and joint deformity.<\/li>\n<li><strong>How is osteopoikilosis diagnosed?<\/strong> Diagnosis is based on clinical symptoms, laboratory and radiological studies, and genetic analysis.<\/li>\n<li><strong>How is osteopoikilosis treated?<\/strong> Treatment includes general lifestyle recommendations, pharmacological therapy, and in some cases, surgery.<\/li>\n<li><strong>Is it possible to prevent osteopoikilosis?<\/strong> Prevention involves avoiding injury, maintaining a healthy lifestyle, and controlling genetic risk factors if there is a family history.<\/li>\n<\/ul>\n<div class=\"fpm_end\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Osteopoikilosis is a rare genetic disorder characterized by abnormal osteogenesis, resulting in excessive bone formation and disruption of normal osteoclastic function.<\/p>","protected":false},"author":1,"featured_media":21423,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[298],"tags":[],"class_list":["post-12360","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medlibrary"],"_links":{"self":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/12360","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/comments?post=12360"}],"version-history":[{"count":1,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/12360\/revisions"}],"predecessor-version":[{"id":14719,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/12360\/revisions\/14719"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media\/21423"}],"wp:attachment":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media?parent=12360"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/categories?post=12360"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/tags?post=12360"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}