Bone disorders

骨疾病
  • 文章类型: Journal Article
    目的:碱性磷酸酶(ALP)在称为良性-短暂性高磷酸酶血症(BTH)的良性疾病中可以增加。我们的目标是评估人口统计,以及婴儿和儿童BTH的临床特征。
    方法:在我们的回顾性研究中,纳入了2019年9月至2023年9月期间诊断为BTH的婴儿和儿童.
    结果:在249名ALP水平升高的儿童中,95(38.1%)有BTH。诊断为BTH儿童的平均年龄为2.4±1.3岁(最小0.6-最大6.2岁)。ALP平均值为2,587±1252U/L(最小972-最大5757U/L)。ALP值平均比相应的正常上限高7.4±3.6倍。第二次测量是在平均13.2±6天后进行的,与第一个值相比,检测到有统计学意义的差异,ALP值下降61±23%(p<0.001)。ALP值平均44±29.2天恢复正常。在49例(51.6%)儿童感染期间检测到ALP升高。当样本分为2岁以下和2岁及以上的样本时,在ALP水平恢复到正常范围所需的时间内,ALP水平没有观察到统计学差异(p=0.480).
    结论:如果在没有临床或实验室怀疑骨或肝病的儿童中检测到高血清ALP,则应牢记BTH。在后续检测中,与第一值相比的显著下降趋势可以指导BTH。
    OBJECTIVE: Alkaline phosphatase (ALP) can be increased in a benign condition known as benign-transient hyperphosphatasemia (BTH). We aimed to evaluate the demographic, and clinical characteristics of infants and children with BTH.
    METHODS: In our retrospective study, infants and children diagnosed with BTH between September 2019 and September 2023 were included.
    RESULTS: Of 249 children with elevated ALP levels, 95 (38.1 %) had BTH. The mean age at diagnosis of children with BTH was 2.4 ± 1.3 years (min 0.6 - max 6.2 years). ALP mean value was 2,587 ± 1252 U/L (min 972 - max 5757 U/L). ALP value was an average 7.4 ± 3.6 times higher than the corresponding upper limit of normal. The second measurement was made after an average of 13.2 ± 6 days, and a statistically significant difference was detected compared to the first value, with a decrease of 61 ± 23 % in the ALP value (p<0.001). ALP value returned to normal in an average of 44 ± 29.2 days. Elevated ALP was detected during infection in 49 (51.6 %) children. When the sample was divided into those under 2 years of age and aged 2 and over, no statistical difference was observed in ALP levels in the time it took for ALP levels to return to the normal range (p=0.480).
    CONCLUSIONS: BTH should be kept in mind if high serum ALP is detected in children without clinical or laboratory suspicion of bone or liver disease. In the follow up detecting a significant decrease trend compared to the first value may be guiding for BTH.
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  • 文章类型: Case Reports
    我们介绍了一例遗传性多发性外生骨,并伴有恶性转化为软骨肉瘤的妇女,该妇女抱怨右大腿肿大和疼痛。遗传性多发性骨外生症是一种罕见的遗传性疾病,以多发性骨软骨瘤为特征。预先存在的骨软骨瘤向软骨肉瘤的恶性转化是这种遗传性综合征的可能的重要表现。成像模式,如X射线,超声波,计算机断层扫描在这些患者的诊断和治疗中起着至关重要的作用,正如在这种情况下所描述的。
    We present a case of hereditary multiple exostoses with malignant transformation to chondrosarcoma in a woman complaining of enlargement and pain in the right thigh. Hereditary multiple exostoses is a rare genetic disorder characterized by multiple osteochondromas. Malignant transformation to chondrosarcoma of a pre-existing osteochondroma is a possible significant manifestation of this hereditary syndrome. Imaging modalities such as X-ray, Ultrasound, and computed tomography play a crucial role in the diagnosis and management of these patients, as described in this case.
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  • 文章类型: Journal Article
    木兰是不同传统医学中重要的药用植物之一。包括中草药。Lignans和Neolignans,包括四氢呋喃,四氢呋喃,和芳基四氢萘,存在于木兰花物种中。医学上已报道了木兰的广泛药理活性。Fargesin已从木兰中分离出来,是木酚素类植物化学物质。Fargesin在医学上具有许多药理活性,包括它对脂质和葡萄糖代谢的有效性,氧化应激,心肌细胞凋亡,等。在目前的工作中,我们总结了fargesin有关其药用特性和药理活性的详细科学信息。这里讨论了fargesin的许多生物和化学方面,包括fargesin的详细药理活性和分析方面。在这次审查中,我们还根据现有的科学文献汇编了有关fargesin的分析数据。关于fargesin的民族药理学信息是通过对Pubmed的文献调查收集的,科学直接,Google,和Scopus使用fargesin术语,木兰,植物化学,和草药。本综述论文以非常简洁的方式并适当地引用了药物中fargesin的药理活性和分析方面的科学数据。由于fargesin对骨骼疾病的显着影响,目前的工作表明了fargesin在医学中的生物学重要性,肺损伤,结肠癌,动脉粥样硬化,神经系统疾病,缺血,sars-cov-2过敏,脂质和葡萄糖代谢,黑色素合成,和不同种类的酶。此外,fargesin也有抗炎作用,抗高血压药,抗原生动物,抗霉菌,和拒食活性。然而,用于分离的分析方法,本综述还涵盖了不同生物和非生物样本中fargesin的鉴定和分离。目前的工作揭示了fargesin在医学和其他相关卫生部门的药理活性和分析方面。
    Flos Magnoliae is one of the important medicinal plants in different traditional medicine, including Chinese herbal medicine. Lignans and neolignans, including tetrahydrofurofuran, tetrahydrofuran, and aryltetralin, are present in the Flos Magnoliae species. A wide range of pharmacological activity of Flos Magnoliae has been reported in medicine. Fargesin has been isolated from Magnolia fargesii and is a lignan-class phytochemical. Fargesin has numerous pharmacological activities in medicine, including its effectiveness on lipid and glucose metabolism, oxidative stress, myocardial apoptosis, etc. In the present work, we have summarized the detailed scientific information of fargesin concerning its medicinal properties and pharmacological activities. Numerous biological and chemical aspects of fargesin are discussed here, including the detailed pharmacological activities and analytical aspects of fargesin. In this review, we have also compiled analytical data on fargesin based on available scientific literature. Ethnopharmacological information on fargesin was gathered by a literature survey on Pubmed, Science Direct, Google, and Scopus using the terms fargesin, Flos Magnoliae, phytochemical, and herbal medicine. The present review paper compiled the scientific data on fargesin in medicine for its pharmacological activities and analytical aspects in a very concise manner with proper citations. The present work signified the biological importance of fargesin in medicine due to its significant impact on bone disorders, lung injury, colon cancer, atherosclerosis, neurological disorders, ischemia, sars-cov-2, allergy, lipid and glucose metabolism, melanin synthesis, and different classes of enzymes. Furthermore, fargesin also has anti-inflammatory, antihypertensive, antiprotozoal, antimycobacterial, and antifeedant activity. However, analytical methods used for the separation, identification and isolation of fargesin in different biological and non-biological samples were also covered in the present review. The present work revealed the pharmacological activities and analytical aspects of fargesin in medicine and other allied health sectors.
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  • 文章类型: Editorial
    暂无摘要。
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  • 文章类型: Journal Article
    常染色体显性多囊肾病(ADPKD)是最常见的遗传性肾病,但是肾脏并不是这种全身性疾病的唯一器官。患有这种疾病的人可能会表现出肾脏系统以外的其他表现,涉及肝脏,胰腺,和大脑在囊性表现的背景下,在涉及血管系统的同时,胃肠道,骨头,和非囊性表现的心脏瓣膜。尽管肾脏受累仍然是该疾病的主要特征,多亏了更长的生存时间,早期诊断,以及更好地管理肾脏相关问题,治疗ADPKD患者的临床医师必须面对新一波的并发症.肝脏的参与代表了最普遍的肾外表现,并且在症状负担和生活质量方面越来越重要。血管异常是影响患者预期寿命的关键因素,是否筛查所有患者仍存在争议。动脉高血压通常是ADPKD患者中最早的症状。导致频繁的心血管并发症。虽然心脏瓣膜异常是常见的并发症,它们很少导致多囊患者的临床病史中的相关问题。最新的相关方面之一涉及可以对这些患者的临床过程产生相当大影响的骨骼疾病。这篇综述旨在提供ADPKD的肾外表现中的“最新技术”。
    Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disorder, but kidneys are not the only organs involved in this systemic disorder. Individuals with the condition may display additional manifestations beyond the renal system, involving the liver, pancreas, and brain in the context of cystic manifestations, while involving the vascular system, gastrointestinal tract, bones, and cardiac valves in the context of non-cystic manifestations. Despite kidney involvement remaining the main feature of the disease, thanks to longer survival, early diagnosis, and better management of kidney-related problems, a new wave of complications must be faced by clinicians who treated patients with ADPKD. Involvement of the liver represents the most prevalent extrarenal manifestation and has growing importance in the symptom burden and quality of life. Vascular abnormalities are a key factor for patients\' life expectancy and there is still debate whether to screen or not to screen all patients. Arterial hypertension is often the earliest onset symptom among ADPKD patients, leading to frequent cardiovascular complications. Although cardiac valvular abnormalities are a frequent complication, they rarely lead to relevant problems in the clinical history of polycystic patients. One of the newest relevant aspects concerns bone disorders that can exert a considerable influence on the clinical course of these patients. This review aims to provide the \"state of the art\" among the extrarenal manifestation of ADPKD.
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  • 文章类型: Journal Article
    我们开发了一种新的模型,用于在胸片上预测骨矿物质密度,并使用在开发环境以外的设施中捕获的图像对其进行了外部验证。该模型表现良好,显示出临床应用的潜力。
    目的:在本研究中,我们在胸片上对用于预测股骨颈骨密度(BMD)的已开发深度学习模型进行了外部验证(EV),以验证该模型在临床实践中的有用性.
    方法:本研究纳入了2010年至2020年访问任何合作设施的患者,并在访问前后一年进行了胸片和股骨颈双能X线吸收测定(DXA)。共获得50,114张胸片,并且使用DXA测量BMD。我们使用来自17个设施的47,150张图像开发了该模型,并使用来自其他三个设施的2914张图像进行了EV(EV数据集)。我们通过基于胸部X光片的集成学习来训练深度学习模型,年龄,和性别来预测BMD使用回归。结果是预测的BMD和测量的BMD与使用从预测的BMD估计的T评分的骨质疏松症和骨质减少的诊断的相关性。
    结果:EV数据集中的平均BMD为0.64±0.14g/cm2。与使用DXA测量的BMD相比,该模型预测的BMD平均为0.61±0.08g/cm2,相关系数为0.68(p<0.01)。准确性,灵敏度,模型的特异性为79.0%,96.6%,T评分<-1的为34.1%,为79.7%,77.1%,T评分≤-2.5时分别为80.4%。
    结论:我们的模型,使用在开发环境以外的设施获得的数据进行了外部验证,胸片预测股骨颈骨密度。该模型表现良好,显示出临床应用的潜力。
    We developed a new model for predicting bone mineral density on chest radiographs and externally validated it using images captured at facilities other than the development environment. The model performed well and showed potential for clinical use.
    OBJECTIVE: In this study, we performed external validation (EV) of a developed deep learning model for predicting bone mineral density (BMD) of femoral neck on chest radiographs to verify the usefulness of this model in clinical practice.
    METHODS: This study included patients who visited any of the collaborating facilities from 2010 to 2020 and underwent chest radiography and dual-energy X-ray absorptiometry (DXA) at the femoral neck in the year before and after their visit. A total of 50,114 chest radiographs were obtained, and BMD was measured using DXA. We developed the model with 47,150 images from 17 facilities and performed EV with 2914 images from three other facilities (EV dataset). We trained the deep learning model via ensemble learning based on chest radiographs, age, and sex to predict BMD using regression. The outcomes were the correlation of the predicted BMD and measured BMD with diagnoses of osteoporosis and osteopenia using the T-score estimated from the predicted BMD.
    RESULTS: The mean BMD was 0.64±0.14 g/cm2 in the EV dataset. The BMD predicted by the model averaged 0.61±0.08 g/cm2, with a correlation coefficient of 0.68 (p<0.01) when compared with the BMD measured using DXA. The accuracy, sensitivity, and specificity of the model were 79.0%, 96.6%, and 34.1% for T-score < -1 and 79.7%, 77.1%, and 80.4% for T-score ≤ -2.5, respectively.
    CONCLUSIONS: Our model, which was externally validated using data obtained at facilities other than the development environment, predicted BMD of femoral neck on chest radiographs. The model performed well and showed potential for clinical use.
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  • 文章类型: Journal Article
    骨质疏松症是一种导致骨骼退化的代谢紊乱。骨质疏松症治疗面临的主要挑战包括早期检测和定期疾病监测。本研究采用D-天冬氨酸八肽(-D-Asp-)8作为骨靶向肽评价骨质疏松的表现,和超顺磁性氧化铁纳米颗粒(SPIONs)作为纳米载体用于MRI辅助诊断。采用热分解技术合成SPIONS,然后用亲水配体进行表面官能化。进行失效模式效应分析和因素筛选研究,以确定SPION和配体的浓度为关键材料属性。随后采用面心立方设计进行了系统优化。使用期望度函数描绘了最佳配方,设计空间以178.70nm为水动力粒径,-24.40mV的zeta电位,和99.89%的亲水性铁含量作为关键的质量属性。XRD图案认可的晶格结构和SQUID研究证实了亲水性SPION的超顺磁性能。(-D-Asp-)8与SPIONs(1:1)的生物缀合使用UV光谱法证实,FTIR和NMR研究。细胞系研究表明,SPIONs成功靶向MG-63人成骨细胞,批准肽束缚的SPION作为MRI探针的巨大的骨靶向和安全性潜力。大鼠体内MRI成像研究表明,肽偶联的SPION具有良好的对比能力和安全性。
    Osteoporosis is a metabolic disorder that leads to deterioration of bones. The major challenges confronting osteoporosis therapy include early-stage detection and regular disease monitoring. The present studies employed D-aspartic acid octapeptide (-D-Asp-)8 as bone-targeting peptide for evaluating osteoporosis manifestation, and superparamagnetic iron oxide nanoparticles (SPIONs) as nanocarriers for MRI-aided diagnosis. Thermal decomposition technique was employed to synthesize SPIONs, followed by surface-functionalization with hydrophilic ligands. Failure mode effect analysis and factor screening studies were performed to identify concentrations of SPIONs and ligand as critical material attributes, and systematic optimization was subsequently conducted employing face-centered cubic design. The optimum formulation was delineated using desirability function, and design space demarcated with 178.70 nm as hydrodynamic particle size, -24.40 mV as zeta potential, and 99.89 % as hydrophilic iron content as critical quality attributes. XRD patterns ratified lattice structure and SQUID studies corroborated superparamagnetic properties of hydrophilic SPIONs. Bioconjugation of (-D-Asp-)8 with SPIONs (1:1) was confirmed using UV spectroscopy, FTIR and NMR studies. Cell line studies indicated successful targeting of SPIONs to MG-63 human osteoblasts, ratifying enormous bone-targeting and safety potential of peptide-tethered SPIONs as MRI probes. In vivo MRI imaging studies in rats showcased promising contrast ability and safety of peptide-conjugated SPIONs.
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  • 文章类型: Journal Article
    骨骼疾病的全球统计,骨骼缺损,骨折令人恐惧。正在使用几种治疗策略来修复它们;然而,基于RNAi的siRNA疗法开始被证明是用于预防骨病症的有希望的方法,因为其将siRNA或siRNA药物缀合物递送至靶组织的先进能力。尽管它的“工作台到床旁”有用性和食品和药物管理局批准了五种基于siRNA的治疗药物:Patisiran,Vutrisiran,Inclisiran,Lumasiran,和吉沃西兰,它对其他疾病的使用仍有待解决。通过纠正与持续释放siRNA递送有关的并发症和复杂性,更好的吸收,和无毒性活性,siRNA治疗可以作为一种实验工具,通过个性化的药物方法来预防复杂和不可用的疾病。本综述总结了值得注意的研究结果,以解决siRNA在骨骼健康中对骨量恢复的影响。骨丢失的恢复,和骨折的恢复。
    The global statistics of bone disorders, skeletal defects, and fractures are frightening. Several therapeutic strategies are being used to fix them; however, RNAi-based siRNA therapy is starting to prove to be a promising approach for the prevention of bone disorders because of its advanced capabilities to deliver siRNA or siRNA drug conjugate to the target tissue. Despite its \'bench-to-bedside\' usefulness and approval by food and drug administration for five siRNA-based therapeutic medicines: Patisiran, Vutrisiran, Inclisiran, Lumasiran, and Givosiran, its use for the other diseases still remains to be resolved. By correcting the complications and complexities involved in siRNA delivery for its sustained release, better absorption, and toxicity-free activity, siRNA therapy can be harnessed as an experimental tool for the prevention of complex and undruggable diseases with a personalized medicine approach. The present review summarizes the findings of notable research to address the implications of siRNA in bone health for the restoration of bone mass, recovery of bone loss, and recuperation of bone fractures.
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  • 文章类型: Journal Article
    方法:文献综述。
    目的:颈部骨骼结构异常可引起头痛,颈部疼痛,吞咽困难,还有脑血管事件。我们引入术语“骨血管冲突”来描述这种现象。这项研究的目的是对涉及大脑前后循环的此类冲突进行文献综述。此外,我们的目标是从我们的机构提供额外的说明性案例,以提高对不寻常的骨血管冲突的认识,以及评估此类患者的实践和护理。
    方法:我们关注的是颈部的骨血管冲突,导致与骨结构异常相关的脑血管事件,引起动脉或静脉压迫,解剖,和/或遮挡。我们排除了没有脑血管影响的纯血管形式。我们的PubMed/MEDLINE搜索以任何语言发表的文章,并且有英文摘要(从1966年到2022年)包括Eagle的神经血管,弓箭手综合症,和高尔夫球手的中风,排除外伤引起的动脉夹层或压迫以及与全身性骨骼疾病有关的那些。我们还提供了作者收集的说明性案例。
    结果:所有研究均为病例报告或小病例系列。我们发现82例鹰的神经血管,258弓猎人综合症,和17个高尔夫球手的中风案例。平均年龄分别为52岁、48岁和47岁,分别。男性占主导地位很明显:鹰占81%,74%为弓箭手,和93%的高尔夫球手。
    结论:骨性血管冲突是脑血管事件的罕见但重要的原因,并且经常无法被识别。对与这些冲突有关的脑血管症状的更多认识可以促进早期诊断和治疗。
    METHODS: Literature Review.
    OBJECTIVE: Abnormal bone structures in the neck can cause headache, neck pain, and difficulty swallowing, but also cerebrovascular events. We introduce the term \"osteovascular conflicts\" to describe this phenomenon. The objective of this study was to conduct a literature review of such conflicts involving the anterior and posterior cerebral circulation. Furthermore, we aimed at presenting additional illustrative cases from our institution both for increasing awareness for unusual osteovascular conflicts, and for assessing the practice and care of such patients.
    METHODS: We focused on osteovascular conflicts in the neck leading to cerebrovascular events related to an abnormal bone structure causing arterial or venous compression, dissection, and/or occlusion. We excluded pure vascular forms without cerebrovascular repercussions. Our PubMed/MEDLINE search for articles published in any language and for which an English abstract was available (from 1966 to 2022) included Eagle\'s neurovascular, bow hunter\'s syndrome, and golfer\'s stroke, excluding trauma-induced artery dissections or compressions and those concerning systemic bone disorders. We also provided illustrative cases collected by the authors.
    RESULTS: All studies were either case reports or small case series. We found 82 cases of Eagle\'s neurovascular, 258 of bow hunter\'s syndrome, and 17 golfer\'s stroke cases. Mean ages were 52, 48, and 47 years, respectively. Male predominance was evident: 81% for Eagle\'s, 74% for bow hunter\'s, and 93% for golfer\'s.
    CONCLUSIONS: Osteovascular conflicts are rare but important causes of cerebrovascular events and often go unrecognised. A greater awareness of cerebrovascular symptoms related to these conflicts can facilitate early diagnosis and treatment.
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  • 文章类型: Editorial
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