Clinical Cases in Mineral and Bone Metabolism最新文献

筛选
英文 中文
Glomus tumor as a cause of oncogenic osteomalacia. 血管球瘤是致癌性骨软化的一种病因。
Clinical Cases in Mineral and Bone Metabolism Pub Date : 2017-09-01 Epub Date: 2017-12-27 DOI: 10.11138/ccmbm/2017.14.3.359
Mehdi Dehghani, Mohammad Hossien Dabbaghmanesh, Abolfazele Khalafi-Nezhad, Nader Riazmontazer, Amireza Dehghanian, Reza Vojdani, Mohammadreza Sasani
{"title":"Glomus tumor as a cause of oncogenic osteomalacia.","authors":"Mehdi Dehghani,&nbsp;Mohammad Hossien Dabbaghmanesh,&nbsp;Abolfazele Khalafi-Nezhad,&nbsp;Nader Riazmontazer,&nbsp;Amireza Dehghanian,&nbsp;Reza Vojdani,&nbsp;Mohammadreza Sasani","doi":"10.11138/ccmbm/2017.14.3.359","DOIUrl":"https://doi.org/10.11138/ccmbm/2017.14.3.359","url":null,"abstract":"<p><p>Many tumors that occasionally are benign in origin causes hypophosphatemic osteomalacia. Here we present a case of glomus tumor in a 59-year-old man with oncogenic osteomalacia. Diagnosis was made after observation of abnormal increase activity in octreotide scan. The magnetic resonance imaging showed a round lesion in left ankle joint. Surgical excision of tumor was curative and all symptoms and intractable hypophosphatemia improved after few weeks.</p>","PeriodicalId":47230,"journal":{"name":"Clinical Cases in Mineral and Bone Metabolism","volume":"14 3","pages":"359-362"},"PeriodicalIF":0.0,"publicationDate":"2017-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5762230/pdf/359-362.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35754621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher's Disease. 骨折的实际原因的情况下,患者随访成骨不全:戈歇病。
Clinical Cases in Mineral and Bone Metabolism Pub Date : 2017-09-01 Epub Date: 2017-12-27 DOI: 10.11138/ccmbm/2017.14.3.336
Ufuk Demirci, Ahmet Çizmecioglu, Ismet Aydogdu
{"title":"Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher's Disease.","authors":"Ufuk Demirci,&nbsp;Ahmet Çizmecioglu,&nbsp;Ismet Aydogdu","doi":"10.11138/ccmbm/2017.14.3.336","DOIUrl":"https://doi.org/10.11138/ccmbm/2017.14.3.336","url":null,"abstract":"<p><p>Gaucher's disease (GD) is a rare disease characterized by a β-glucocerebroside accumulation in the reticulo-endothelial system. Patients may refer to the clinic with complaints of bone pain, hepatosplenomegaly, anemia, thrombocytopenia, growth retardation, interstitial pulmonary disease, pulmonary hypertension, and skeletal disorders. Skeletal system involvement is observed commonly in Gaucher patients and a significant cause of morbidity. Our patient was followed for several years as a glass child - osteogenesis imperfecta and he had joint deformities due to skeletal fractures. We wanted to present this case to raise awareness of GD's skeletal involvement and effects of late diagnosis.</p>","PeriodicalId":47230,"journal":{"name":"Clinical Cases in Mineral and Bone Metabolism","volume":"14 3","pages":"336-339"},"PeriodicalIF":0.0,"publicationDate":"2017-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5762226/pdf/336-339.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35753228","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Lower limbs heterometry correction in patients with osteoporosis and increased risk of falls. 骨质疏松和跌倒风险增加患者的下肢异量矫正。
Clinical Cases in Mineral and Bone Metabolism Pub Date : 2017-09-01 Epub Date: 2017-12-27 DOI: 10.11138/ccmbm/2017.14.3.294
Elisa Pratelli, Angelo Alito, Claudio Zanella, Laura Busi, Giuseppe Mangone, Matteo Scarselli, Pietro Pasquetti
{"title":"Lower limbs heterometry correction in patients with osteoporosis and increased risk of falls.","authors":"Elisa Pratelli,&nbsp;Angelo Alito,&nbsp;Claudio Zanella,&nbsp;Laura Busi,&nbsp;Giuseppe Mangone,&nbsp;Matteo Scarselli,&nbsp;Pietro Pasquetti","doi":"10.11138/ccmbm/2017.14.3.294","DOIUrl":"https://doi.org/10.11138/ccmbm/2017.14.3.294","url":null,"abstract":"<p><p>Osteoporotic fractures are associated with a significant increase in morbidity, mortality and medical costs. There is also a strong link between fractures and increased mortality. Among effective measures for the prevention of falls, instability treatment surely plays a crucial role. Several factors contribute to instability, many of which are ageing-related: visual spatial deficit, strength reduction, weight imbalance with COP lateralization sometimes favoured by LLD (leg length discrepancy). It seems useful to detect an heterometry which could be corrected, if present. The aim of our work is to assess the responses of individuals with heterometry diagnosis to the wedge positioning, using the balance board Lizard 3.0<sup>®</sup>. In the period between January 2013 and September 2013, 52 patients were recruited with clinical heterometry >5 mm among those that were treated in the Recovery and Rehabilitation Agency's postural clinic of the Careggi Hospital Orthopedic Trauma Centre in Florence. Our measurements have revealed that there is a statistically significant correlation (p<0.5) between clinical limb shortening expressed in mm and location of the weight imbalance at the stabilometric examination at T0; our data shows that the majority of patients with clinical heterometry shows a weight imbalance on the longer limb. After heterometry correction, 21 patients showed a statistically significant reduction (p<0,01) in weight imbalance expressed in kg between T0 and T1 and have been assigned to group 1, the remaining 31 worsened and have been assigned to group 2. From the results of our study, it is clear that the correction of lower limbs heterometry shouldn't be based only on clinical measuring of the limbs length discrepancy, even if very accurate.</p>","PeriodicalId":47230,"journal":{"name":"Clinical Cases in Mineral and Bone Metabolism","volume":"14 3","pages":"294-297"},"PeriodicalIF":0.0,"publicationDate":"2017-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5762218/pdf/294-297.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35753781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 8
Secondary aneurysmal bone cyst in McCune-Albright syndrome. McCune-Albright综合征继发性动脉瘤性骨囊肿。
Clinical Cases in Mineral and Bone Metabolism Pub Date : 2017-09-01 Epub Date: 2017-12-27 DOI: 10.11138/ccmbm/2017.14.3.332
Symeon Tournis, Alexia Balanika, Panayiotis D Megaloikonomos, Andreas F Mavrogenis
{"title":"Secondary aneurysmal bone cyst in McCune-Albright syndrome.","authors":"Symeon Tournis,&nbsp;Alexia Balanika,&nbsp;Panayiotis D Megaloikonomos,&nbsp;Andreas F Mavrogenis","doi":"10.11138/ccmbm/2017.14.3.332","DOIUrl":"https://doi.org/10.11138/ccmbm/2017.14.3.332","url":null,"abstract":"<p><p>Polyostotic fibrous dysplasia in combination with caféau-lait macules and hyperfunctioning endocrinopathies consists of a rare clinical condition termed as McCune-Albright syndrome. Aneurysmal bone cysts are tumor-like cystic lesions, composed of blood-filled compartments. They may occur as primary lesions or secondary to other pathologies; most commonly giant cell tumors of bone. However, secondary aneurysmal bone cysts in McCune-Albright syndrome are exceptional. We present a 28-year-old female with McCune-Albright syndrome. She experienced precocious puberty at age 3 months. In childhood, she experienced multiple long bone fractures, facial deformity and progressive visual and hearing impairment. One year ago, she experienced a painful, gradually enlarging bone lesion involving the right ilium, pubic and ischial bone with groundglass appearance, septa, marginal sclerosis, endosteal scalloping and blow-out expansion resulting in localized thinning of the cortex. CT-guided needle biopsy of the pelvic lesion showed aneurysmal bone cyst. Selective arterial embolization was recommended, however, the patient and her relatives did not consent to proceed to treatment, and she remained in close surveillance thereafter.</p>","PeriodicalId":47230,"journal":{"name":"Clinical Cases in Mineral and Bone Metabolism","volume":"14 3","pages":"332-335"},"PeriodicalIF":0.0,"publicationDate":"2017-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5762225/pdf/332-335.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35753227","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
Femur shaft fracture following osteoid osteoma radiofrequency ablation. 类骨瘤射频消融术后股骨骨干骨折。
Clinical Cases in Mineral and Bone Metabolism Pub Date : 2017-09-01 Epub Date: 2017-12-27 DOI: 10.11138/ccmbm/2017.14.3.363
Elias Mazzawi, Daniela Militianu, Mark Eidelman, Yaniv Keren
{"title":"Femur shaft fracture following osteoid osteoma radiofrequency ablation.","authors":"Elias Mazzawi,&nbsp;Daniela Militianu,&nbsp;Mark Eidelman,&nbsp;Yaniv Keren","doi":"10.11138/ccmbm/2017.14.3.363","DOIUrl":"https://doi.org/10.11138/ccmbm/2017.14.3.363","url":null,"abstract":"<p><strong>Introduction: </strong>Radiofrequency ablation is an effective modality in treating osteoid osteoma while avoiding the complications of an open procedure. Its complications are usually self-limited consisting mostly of local skin burns. This report presents a major complication, a femur shaft fracture following an osteoid osteoma radiofrequency ablation. The fracture occurred approximately one year after the ablation at the site of the osteoid osteoma.</p><p><strong>Discussion: </strong>Few case reports have been published regarding subtrochanteric femur fracture after ablation of an osteoid osteoma. To our knowledge this is the first report of a femoral shaft fracture following an ablation. Another unique characteristic of the presented case is the late presentation, approximately one year following ablation. Factors which may have contributed to the fracture include lateral entry point of the drill which may have weakened the femur when taking its biological and mechanical properties into account, and the fact that the patient was a soldier who was allowed to continue his military training only six weeks after the ablation.</p><p><strong>Conclusion: </strong>Radiofrequency ablation is an effective and relatively safe technique in treating osteoid osteomas, however the physician should be aware of the fracture risk involved, consider mechanical and biologic factors of the bone prior to drilling, and be very conservative when recommending return to high level activity. In addition, a close follow-up should be carried on after the procedure in order to supervise bone remodeling.</p>","PeriodicalId":47230,"journal":{"name":"Clinical Cases in Mineral and Bone Metabolism","volume":"14 3","pages":"363-367"},"PeriodicalIF":0.0,"publicationDate":"2017-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.11138/ccmbm/2017.14.3.363","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35754622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Subtrochanteric femoral stress fracture with features of atypical femoral fracture in patient with Paget's disease: a case report. 股骨粗隆下应力性骨折伴非典型股骨骨折的Paget病1例报告。
Clinical Cases in Mineral and Bone Metabolism Pub Date : 2017-09-01 Epub Date: 2017-12-27 DOI: 10.11138/ccmbm/2017.14.3.368
Young-Kyun Lee, Hong Seok Kim, Hwan Seong Cho, Kyung-Hoi Koo
{"title":"Subtrochanteric femoral stress fracture with features of atypical femoral fracture in patient with Paget's disease: a case report.","authors":"Young-Kyun Lee,&nbsp;Hong Seok Kim,&nbsp;Hwan Seong Cho,&nbsp;Kyung-Hoi Koo","doi":"10.11138/ccmbm/2017.14.3.368","DOIUrl":"https://doi.org/10.11138/ccmbm/2017.14.3.368","url":null,"abstract":"<p><p>Atypical femoral fracture (AFF) has been widely issued since the American Society for Bone and Mineral Research (ASBMR) taskforce stated a possible association with long-term use of bisphosphonate in 2010. ASBMR taskforce recommended to include Paget's disease as one of variables to investigate the AFF in 2010. On the other hand, the ASBMR taskforce in 2014 excluded Paget's disease in the definition of AFF. Still, any rationale has been barely documented about this change. We described the rationale by reporting an 85-year-old man who had a subtrochanteric fracture with features of atypical femoral fracture which turned out to be Paget's disease of bone in the pathology.</p>","PeriodicalId":47230,"journal":{"name":"Clinical Cases in Mineral and Bone Metabolism","volume":"14 3","pages":"368-371"},"PeriodicalIF":0.0,"publicationDate":"2017-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5762232/pdf/368-371.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35754623","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Surgical treatment of neglected hip fracture in children with cerebral palsy: case report and review of the literature. 脑瘫患儿忽视髋部骨折的手术治疗:病例报告及文献复习。
Clinical Cases in Mineral and Bone Metabolism Pub Date : 2017-09-01 Epub Date: 2017-12-27 DOI: 10.11138/ccmbm/2017.14.3.317
Giuseppe Toro, Antimo Moretti, Gabriella Toro, Assunta Tirelli, Giampiero Calabrò, Antonio Toro, Giovanni Iolascon
{"title":"Surgical treatment of neglected hip fracture in children with cerebral palsy: case report and review of the literature.","authors":"Giuseppe Toro,&nbsp;Antimo Moretti,&nbsp;Gabriella Toro,&nbsp;Assunta Tirelli,&nbsp;Giampiero Calabrò,&nbsp;Antonio Toro,&nbsp;Giovanni Iolascon","doi":"10.11138/ccmbm/2017.14.3.317","DOIUrl":"https://doi.org/10.11138/ccmbm/2017.14.3.317","url":null,"abstract":"<p><strong>Case: </strong>A clinical case of a 15-year-old cerebral palsy child with a Sandhu type 2 neglected femoral neck fracture is presented. The patient was treated using cannulated screws and cancellous bone graft augmented with mesenchymal stem cells. At 6 months after the surgery complete fracture healing was observed.</p><p><strong>Conclusion: </strong>To early diagnose this fractures, it is mandatory to perform a comprehensive clinical and radiological evaluation including also a second level imaging. The use of cannulated screws with cancellous bone graft and MSCs is a viable treatment option in these patients.</p>","PeriodicalId":47230,"journal":{"name":"Clinical Cases in Mineral and Bone Metabolism","volume":"14 3","pages":"317-323"},"PeriodicalIF":0.0,"publicationDate":"2017-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5762222/pdf/317-323.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35753225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Pitfalls in interpreting interventional studies for osteoporosis. 解读骨质疏松介入研究的陷阱。
Clinical Cases in Mineral and Bone Metabolism Pub Date : 2017-09-01 Epub Date: 2017-12-27 DOI: 10.11138/ccmbm/2017.14.3.329
Mohammad Shafi Kuchay, Beena Bansal, Ambrish Mithal
{"title":"Pitfalls in interpreting interventional studies for osteoporosis.","authors":"Mohammad Shafi Kuchay,&nbsp;Beena Bansal,&nbsp;Ambrish Mithal","doi":"10.11138/ccmbm/2017.14.3.329","DOIUrl":"https://doi.org/10.11138/ccmbm/2017.14.3.329","url":null,"abstract":"<p><p>After adulthood, changes in the skeleton are slow and takes years for accruing or losing any appreciable amount of bone mass. Proper interpretation of studies that evaluate the effect of nutrients (like calcium, vitamin D) and anti-resorptive agents (like bisphosphonates) on bone mass is important so that the true effect of the agent is measured correctly. In this report, we are highlighting two issues of utmost importance for correctly interpreting interventional studies for osteoporosis. One issue is the bone remodelling transient (BRT). It refers to a transient change in bone mineral density (BMD) by any agent that reduces remodeling space temporarily. This change is, however, not sustained for a long period and can be misinterpreted as a true gain in bone mass. The second issue is difference between calcium balance and bone balance. Calcium balance is the difference between the amount of calcium ingested in a day and the amount of calcium lost in that day. Recommendations for dietary calcium intake are based on calcium balance studies that presume calcium balance as an equivalent for bone balance. However, these are two different entities and need to be distinguished. Dietary calcium requirements should be established by bone balance studies using bone densitometry, not by calcium balance studies.</p>","PeriodicalId":47230,"journal":{"name":"Clinical Cases in Mineral and Bone Metabolism","volume":"14 3","pages":"329-331"},"PeriodicalIF":0.0,"publicationDate":"2017-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5762224/pdf/329-331.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35753226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The effectiveness of intra-articular injections of Hyalubrix® combined with exercise therapy in the treatment of hip osteoarthritis. 关节内注射Hyalubrix®结合运动疗法治疗髋关节骨关节炎的有效性。
Clinical Cases in Mineral and Bone Metabolism Pub Date : 2017-05-01 Epub Date: 2017-10-25 DOI: 10.11138/ccmbm/2017.14.1.146
Giulia Letizia Mauro, Antonino Sanfilippo, Dalila Scaturro
{"title":"The effectiveness of intra-articular injections of Hyalubrix<sup>®</sup> combined with exercise therapy in the treatment of hip osteoarthritis.","authors":"Giulia Letizia Mauro,&nbsp;Antonino Sanfilippo,&nbsp;Dalila Scaturro","doi":"10.11138/ccmbm/2017.14.1.146","DOIUrl":"https://doi.org/10.11138/ccmbm/2017.14.1.146","url":null,"abstract":"<p><strong>Purpose: </strong>Osteoarthritis (OA) is the most common joint disorder in the elderly, causing significant pain which negatively affects mobility and quality of life. The aim of the study was to assess the effectiveness of ultrasound image-guided intra-articular injections of Hyalubrix<sup>®</sup> combined with exercise therapy in the treatment of hip osteoarthritis.</p><p><strong>Methods: </strong>This was a single site, prospective, open-label, Investigator-initiated study. Forty patients were enrolled and received three ultrasound image-guided injections of Hyalubrix<sup>®</sup>, 45 days apart, combined with three sessions a week of physical therapy (proprioceptive rehabilitation of the lower limbs; gait training; balance training) up to a total of 30 sessions (10 weeks), starting from one week after the first injection.</p><p><strong>Results: </strong>The primary objective was to achieve a lasting reduction in OA symptoms related to pain during activity. During the course of the study the pain perceived by the patient during activity dropped from a mean value of 6.94 cm to a mean value of 1.46 cm and showed a statistically significant decrease from visit 1 compared to baseline (p < 0.05) which was confirmed at all the subsequent time points. Significant improvements were also observed in the evaluation of the secondary objectives: hip disability; OA-related pain at rest; daily functioning and NSAIDs intake.</p><p><strong>Conclusions: </strong>Results from this study including 40 patients for a total of 65 treated hips demonstrate a significant improvement in OA-related pain, hip disability, and patient's daily functioning as well as a reduction in NSAIDs intake. Patients suffering from hip OA seem to benefit from the treatment with Hyalubrix<sup>®</sup> injections plus exercise therapy.</p>","PeriodicalId":47230,"journal":{"name":"Clinical Cases in Mineral and Bone Metabolism","volume":"14 2","pages":"146-152"},"PeriodicalIF":0.0,"publicationDate":"2017-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.11138/ccmbm/2017.14.1.146","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35675631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 12
Hypophosphatasia: clinical manifestation and burden of disease in adult patients. 成人低磷酸酶血症的临床表现和疾病负担。
Clinical Cases in Mineral and Bone Metabolism Pub Date : 2017-05-01 Epub Date: 2017-10-25 DOI: 10.11138/ccmbm/2017.14.1.230
Francesco Conti, Lorenzo Ciullini, Giuseppe Pugliese
{"title":"Hypophosphatasia: clinical manifestation and burden of disease in adult patients.","authors":"Francesco Conti,&nbsp;Lorenzo Ciullini,&nbsp;Giuseppe Pugliese","doi":"10.11138/ccmbm/2017.14.1.230","DOIUrl":"https://doi.org/10.11138/ccmbm/2017.14.1.230","url":null,"abstract":"<p><p>Hypophosphatasia (HPP) is a rare inherited disease with a heterogeneous clinical expression. The adult form of HPP is often difficult to be recognized with a delayed diagnosis and inappropriate treatments. Though severity of HPP decreases with age at onset, important complications could occur at any age and the burden of HPP among adult patients is found to be significant. Adult patients with HPP suffer of chronic pain, recurrent fractures and other orthopedics problems, with severe disability that have a serious negative impact on all aspects of their life. The aim of this paper is to summarize the main aspects of HPP in adult patients reviewing the literature and focusing on its burden for patients suffering from this condition.</p>","PeriodicalId":47230,"journal":{"name":"Clinical Cases in Mineral and Bone Metabolism","volume":"14 2","pages":"230-234"},"PeriodicalIF":0.0,"publicationDate":"2017-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726215/pdf/230-234.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"35676021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 41
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信