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1.
Herein, we report a case of a 67-year-old man with hereditary hemochromatosis and a history of poliomyelitis that had caused a paresis of the right arm. Hemochromatosis-associated arthropathy developed in all but the paretic limb. X-ray and MRI revealed degenerative, massive inflammatory and destructive changes in the joints of the non-paretic hand only. These findings argue for the contribution of physical exposure and non-mechanical factors to the development of the hemochromatosis arthropathy.  相似文献   

2.
The aim of the study was the detection of inflammatory arthropathy in patients with systemic sclerosis (SSc) with arthralgia using musculoskeletal ultrasonography (MSUS) and magnetic resonance imaging (MRI) and to compare between MRI versus MSUS detecting musculoskeletal abnormalities and find out its relation with other clinical and laboratory parameters. Sixteen SSc patients with hand arthralgia had a baseline MSUS for their hands. Six months later, patients had a second MSUS and MRI with gadolinium of their most symptomatic hand. Of the 16 patients examined by MSUS, it was found that on baseline and second examination, tenosynovitis was seen in 8 (50 %) and 7 (43.7 %) patients and synovitis was seen in 4 (25 %) and 5 (31 %) patients, respectively, indicating persistence synovial inflammation, and erosion was seen in only 1 (6.3 %) patient on baseline and second examination. Regarding MRI, 81.3 % (13) patients had tenosynovitis, 87.5 % (14) patients had synovitis, and 62.5 % (10) patients had erosions. Applying the RAMRIS system (a semiquantitative MRI scoring system used in RA), the mean values for synovitis, bone marrow edema, and erosions fell within the range seen in RA. Systemic sclerosis patients with arthralgia that have no obvious clinical inflammatory arthritis were found to have persistent inflammatory erosive arthropathy in their hands and wrists using MSUS and MRI. While both MRI and MSUS are useful in characterizing synovial inflammation in SSc, MRI is clearly more sensitive than MSUS in this setting. Further studies on larger number of SSc patients with arthralgia and a control group consisting of SSc patients without arthralgia to better establish the clinical and radiological findings in SSc.  相似文献   

3.
Seven pedigrees with 45 members were evaluated for arthropathy associated with hereditary hemochromatosis (HC). Patients with symptomatic extraarticular disease were compared with asymptomatic patients who had evidence of HC on laboratory findings, and with normal subjects. Patients who were homozygous for HC were compared with heterozygous patients and normal subjects. HC arthritis does not appear to be an early predictor of disease, and chondrocalcinosis is a late manifestation of HC arthropathy.  相似文献   

4.
Arthropathy is a leading clinical manifestation of hereditary hemochromatosis (HH), but involvement of the ankle and hindfoot joints is rare. We describe 3 male patients who presented with symmetrical pain and swelling of the ankles. Radiographs and magnetic resonance imaging showed severe osteoarthritic degenerative changes with a radiological triad of joint space narrowing, subchondral sclerosis, and cyst formation. In all 3 cases a homozygous C282Y mutation in the HFE gene was detected and liver biopsies confirmed the diagnosis of HH. Other differential diagnoses could be excluded. Severe arthropathy of the ankle and hindfoot in comparatively young men can be a leading presentation of HH.  相似文献   

5.
Calcium pyrophosphate dihydrate deposition (CPPDD) disease is the term used to describe a group of common and potentially severe metabolic arthropathies. In these, CPPD crystals form and are deposited in the cartilage matrix (chondrocalcinosis) and induce inflammatory and/or destructive mechanisms. Most cases are idiopathic, but hyperparathyroidism, hemochromatosis, hypomagnesemia and hypophosphatemia can promote or cause chondrocalcinosis. Early disease (with onset before the age of 60 years) thus requires that the patient be examined for these metabolic conditions, particularly hemochromatosis. The prevalence of CPPDD disease in the general population increases with age, being 10–15% in the age group 65–75 years and more than 40% in the over-80s. Although frequently asymptomatic, chondrocalcinosis can involve severe acute attacks of inflammatory arthritis (pseudogout) and also various types of chronic arthropathy including pseudorheumatoid arthritis, pseudo-osteoarthritis, and pseudoneuropathic joint disease. CPPD crystals can also be deposited in the bursae, ligaments, and tendons and generate inflammation and/or ruptures. The diagnosis is based on synovial fluid analysis (positively birefringent CPPD crystals visualized by compensated polarized light microscopy) and X-rays (punctate and linear radiodense areas in fibrocartilage and hyaline cartilage). Treatment is primarily symptomatic, since there is no known drug that can prevent progression of the joint destruction). Nonsteroid anti-inflammatory drugs (NSAIDs) and intra-articular or systemic glucocorticoids (amounts must be only small if use is prolonged) are the most useful treatments. Colchicine can be effective in recurring pseudogout, and magnesium can be used prophylactically. In a small uncontrolled series methotrexate was effective and aroused interest; it can be used when other treatments fail.  相似文献   

6.
Erosive osteoarthritis (EOA) is defined as hand osteoarthritis (OA) with interphalangeal joint erosions on plain radiographs. We sought to find ultrasound (US) and magnetic resonance imaging (MRI) features that could distinguish EOA from nodal hand OA (NOA). Symptomatic consecutive patients with hand OA as defined by the American College of Rheumatology criteria (13 EOA patients as defined by erosion in ≥1 interphalangeal joint and seven nodal OA patients) and five normal individuals were examined by plain radiography, US, and MRI. Patients and controls underwent evaluation of metacarpophalangeal and interphalangeal joints by US, and all fingers from second to fifth digit by MRI. A total of 240 joints in symptomatic patients were examined by both imaging modalities. Synovitis, osteophytes, cartilage loss, and erosions were frequently detected in the joints of patients with EOA and NOA. Six of seven patients with NOA had joint erosions that were seen on MRI or US scan but seen on plain radiographs. The overall concordance between MRI and US findings was substantial for osteophytes (κ?=?0.79) and excellent for cysts (κ?=?0.85), erosions (κ?=?0.84), synovitis (κ?=?0.82), and tenosynovitis (κ?=?0.83) in both groups. Inflammatory changes, such as effusions and synovitis, and structural changes, such as erosions, were frequently detected by US and MRI in EOA and nodal OA. These findings may support the hypothesis that EOA could not be a separate entity but may represent the severe end of the spectrum of hand OA.  相似文献   

7.

Objective

To determine the prevalence, clinical picture, and disease burden of arthritis in patients with hereditary hemochromatosis.

Methods

In this cross‐sectional observational study of 199 patients with hemochromatosis and iron overload, demographic and disease‐specific variables, genotype, and organ involvement were recorded. The prevalence, intensity, and localization of joint pain were assessed, and a complete rheumatologic investigation was performed. Radiographs of the hands, knees, and ankles were scored for joint space narrowing, erosions, osteophytes, and chondrocalcinosis. In addition, the number and type of joint replacement surgeries were recorded.

Results

Joint pain was reported by 72.4% of the patients. Their mean ± SD age at the time of the initial joint symptoms was 45.8 ± 13.2 years. If joint pain was present, it preceded the diagnosis of hemochromatosis by a mean ± SD of 9.0 ± 10.7 years. Bony enlargement was observed in 65.8% of the patients, whereas synovitis was less common (13.6%). Joint space narrowing and osteophytes as well as chondrocalcinosis of the wrist and knee joints were frequent radiographic features of hemochromatosis. Joint replacement surgery was common, with 32 patients (16.1%) undergoing total joint replacement surgery due to severe OA. The mean ± SD age of these patients was 58.3 ± 10.4 years at time of joint replacement surgery. Female sex, metacarpophalangeal joint involvement, and the presence of chondrocalcinosis were associated with a higher risk of early joint failure (i.e., the need for joint replacement surgery).

Conclusion

Arthritis is a frequent, early, and severe symptom of hemochromatosis. Disease is not confined to involvement of the metacarpophalangeal joints and often leads to severe damage requiring the replacement of joints.
  相似文献   

8.

Background

Homozygous C282Y mutation in HFE gene is responsible for the majority of hereditary hemochromatosis cases. Since 1996 this mutation can be identified by a simple genetic test.

Aims

To determine the clinical presentations in patients with homozygous HFE C282Y mutation and the impact of genetic testing on the time needed for diagnosis.

Methods

A total of 414 patients diagnosed with C282Y homozygous hereditary hemochromatosis before and after the introduction of genetic testing were evaluated regarding symptoms and clinical findings at diagnosis as well as first hemochromatosis-related clinical features in their past medical history.

Results

At the time of diagnosis, the predominant symptom was joint pain, in particular of the hands/wrists. Those patients presenting with hand/wrist arthralgia had significantly higher ferritin levels than patients without this joint involvement (p = 0.0005 for males and p < 0.0001 for females). After the introduction of the HFE genetic test an earlier diagnosis after first onset of hemochromatosis-associated clinical features was observed between 2006 and 2009 vs. 2000–2005 p = 0.01).

Conclusions

Arthralgia, in particular of the hands/wrists, is a hallmark of hereditary hemochromatosis and its presence is associated with higher ferritin levels. Despite the availability of a genetic test, it often takes more than 6 years from the first onset of clinical features to diagnose hereditary hemochromatosis. This underlines the importance of raising the awareness of hemochromatosis and its typical clinical presentations.  相似文献   

9.
To investigate patterns of inflammatory MRI pathologies of the fore- and midfoot in rheumatoid arthritis (RA) and early RA (ERA) and their changes under therapy. In this prospective study, MRI data of the foot of 39 RA patients (29 female, 10 male; age: 54 ± 13 years; disease duration: 35 ± 37 months; baseline DAS28: 3.0 ± 2.0; medication: 29 DMARD, 1 biological, 9 symptomatic or non-specific treatment) were evaluated for synovitis in 314 joints, bone marrow edema and erosions according to RAMRIS criteria in a total of 585 joints. The change in joint pathology intensity was evaluated on follow-up MRI (time of follow-up: 8 ± 4 months) in 25 patients. Inflammation was generally more frequent in the metatarsophalangeal (MTP) joints (221/292; 76 %) than in the proximal metatarsal (47/292; 16 %) and tarsal bones (24/292; 8 %). The overall most frequently involved joints of the foot were MTP 5 (51/292; 18 %) and 1 (49/292; 17 %). Change under therapy was most frequently seen in the MTP 1 joint. Progress of inflammation in the MTP 1 was more frequently found in ERA patients than in patients with established RA (disease duration >12 months) (p = 0.002). In RA, the MTP joints, primarily MTP 5 and 1, are the predominant sites of inflammatory MRI pathologies of the foot. A change of inflammatory activity under therapy can be most frequently noted in the MTP 1 joint. This information might be helpful to improve effectiveness of MRI-controlled therapy approaches and clinical trials.  相似文献   

10.
OBJECTIVE: To analyze the clinical characteristics and genetic background associated with the presence of hand arthropathy, as determined by radiological findings, in Italian patients with hereditary hemochromatosis (HHC). METHODS: In 88 consecutive unselected patients with phenotypically expressed HHC, joint involvement was systematically evaluated in plain radiographs of hands, wrists, lumbar spine, pelvis, and knees. Risk factors considered were age, sex, body mass index, alcohol abuse, organ involvement at other sites, and indices of iron overload, including ferritin, transferrin saturation, and iron removed to reach depletion. HFE genotype was also considered. The independent role of risk factors was tested by logistic regression analysis. RESULTS: Thirty-two subjects (36%) showed signs of metacarpophalangeal (MCP) arthropathy. Intercarpal, radiocarpal, and chondrocalcinosis were less frequent and occurred in association with MCP arthropathy. At multivariate analysis MCP arthropathy was independently associated with older age [odds ratio (OR) 1.20, 95% confidence interval (CI) 1.1-1.33/yr; p = 0.0001], higher ferritin levels at diagnosis (OR 4.17, 95% CI 1.60-13.9 for values > 1000 ng/ml; p = 0.008), the presence of the C282Y +/+ and C282Y/H63D HFE genotypes (OR 2.69, 95% CI 1.09-7.87; p = 0.04), and higher percentage transferrin saturation (OR 1.05, 95% CI 1-1.1; p = 0.05). The severity of arthropathy was independently associated with older age (p = 0.03) and higher ferritin values (p = 0.05). CONCLUSION: MCP arthropathy together with a typical pattern of joint involvement is observed in one-third of unselected patients with HHC, and is influenced by the duration and degree of the iron overload.  相似文献   

11.
Arthropathy is an invalidating complication of acromegaly. This arthropathy deteriorates radiographically despite long-term disease control. However, the clinical course and its relationship to the radiographic course are currently unknown. We aimed to investigate the clinical course of arthropathy during follow-up and its relationship to radiographic progression in long-term controlled acromegaly patients. Prospective follow-up study. We studied 58 patients (mean age 62 years, women 41 %) with controlled acromegaly for a mean of 17.6 years. Clinical progression of joint disease was defined at baseline and after 2.6 years, by the Western Ontario McMaster Universities Osteoarthritis Index (WOMAC) and Australian/Canadian Osteoarthritis Index (AUSCAN) questionnaires for lower limb and hand OA, respectively, and performance tests. Potential risk factors for progression were assessed. The clinical course of arthropathy was related to the radiographic course. On average, hand and lower limb function deteriorated during follow-up, despite large interindividual variations. Joint pain was stable over time. High levels of pain and functional impairment at baseline were related to clinical progression of hand pain and functional limitations. High baseline BMI was a risk factor for functional deterioration in the lower limb. The changes in symptoms and radiographic progression during follow-up were not related. In treated acromegaly patients, joint function deteriorates during prolonged follow-up, despite biochemical disease control, although there was interindividual variation. Clinical and radiographic course of arthropathy were not related. Therefore, in clinical practice, a combination of clinical and radiographic assessment is necessary to evaluate the course of acromegalic arthropathy.  相似文献   

12.
Severe haemophilia is associated with recurrent joint bleeds, which can lead to haemophilic arthropathy. Subclinical joint bleeds have also been associated with joint damage detected using magnetic resonance imaging (MRI). We investigated the development of early changes in clinically asymptomatic joints using MRI in haemophilia A or B patients receiving prophylactic therapy. In this single-centre retrospective cohort study, patients with clinical evidence of joint damage in one ankle and one clinically asymptomatic ankle, in which we performed an MRI scan of both ankles in one session, were enrolled. MRI findings were graded using a 4-point scoring system (0 = normal findings and III = severe joint damage). Since 2000, 38 MRIs in 26 patients have been performed. Starting at a median age of 4 years, 23 patients received prophylaxis 2-3 times weekly. On-demand treatment was performed in three patients. Eight patients (31%) presented with an MRI score of 0, 12 (46%) had a score of I, four (15%) had a score of II, and two (8%) had a score of III in the clinically unaffected ankle. The six patients with MRI scores of II and III had started regular prophylaxis between the ages of 2 years and 15 years; none had developed an inhibitor or experienced a clinically evident bleed in the asymptomatic ankle. During our study, five of 26 patients had a worsening of MRI findings without experiencing a joint bleed. Early morphological changes in clinically asymptomatic ankles can be detected using MRI, despite adequate prophylaxis.  相似文献   

13.
A patient manifesting the arthropathy of hemochromatosis without abnormal serum iron studies is described. Hemochromatosis was confirmed by liver biopsy. This case serves to emphasize the diagnostic value of the characteristic arthropathy of hemochromatosis. Our observations in this patient support the hypothesis that the pathogenesis of hereditary hemochromatosis differs from that of acquired iron overload states. The concurrent presence of hypouricemia is explored in this patient and in 18 other patients with hereditary hemochromatosis. Men with hereditary hemochromatosis were found to have lower serum uric acid levels than expected. In our patient, a renal defect in tubular reabsorption of uric acid appears responsible for hypouricemia.The apparent association of hemochromatosis and hypouricemia deserves further investigation.  相似文献   

14.
Calcium pyrophosphate dihydrate (CPPD) crystal induced arthropathy (CPPD-CA; systemic articular chondrocalcinosis) characterized by deposition of CPPD-crystals in fibro- and hyaline cartilage, joint capsule and periarticular tissues is associated with a variable clinical spectrum of inflammatory degenerative and occasionally destructive joint and vertebral manifestations including neurologic complications and rarely tophaceous-tumoral tissue calcifications. Microcrystal formation in the extracellular matrix of cartilage and tendons is based on genetic and acquired dysregulation of chondrocyte pyrophosphate metabolism and presumably linked to gene mutants on the short arm of chromosome-5 (gene locus 5p15.1 and ANKH gene). Idiopathic disease occurs rarely in hereditary-familial and frequently in sporadic manifestation with increasing prevalence due to aging; a secondary form is significantly related to endocrine and metabolic disorders (as to hyperparathyroidism, hemochromatosis etc.). The impact of the clinical syndrome in practice is important in differential diagnosis of age related conditions like acute mono- or oligoarthritis, systemic osteoarthritis and polymyalgia rheumatica. Actual treatment ignores established prevention of systemic cartilage calcification and is oriented to symptomatic relief.  相似文献   

15.
Genetic hemochromatosis, a disorder of iron metabolism, results in the deposition of massive amounts of iron in the tissues. Arthropathy is one of a number of clinical features associated with the disease. Characteristic radiographic features in the wrist and hand have been reported, and an increased incidence of severe hip disease has been observed. In this study, hip radiographs of 112 patients with genetic hemochromatosis and arthritis were reviewed, and histologic examination of 2 femoral heads was performed. Twenty-eight of the 112 patients (25%) had evidence of arthritis of the hip joint. In 23 (82%) of the 28 patients, this feature was thought to be associated with osteoarthritis; 2 of these patients had an atypical arthropathy associated with radiolucency of the femoral head and histologic features of atypical stripping of the cartilage from the subchondral bone. These atypical features were not thought to be due to avascular necrosis, pyrophosphate-associated arthropathy, apatite-associated deposition arthritis, or osteoarthritis, but may be typical of genetic hemochromatosis and possibly the result of increased susceptibility to shearing forces at the bone-cartilage interface. In 5 of the 28 patients (18%), chondrocalcinosis was the sole abnormal finding on radiography. Ten of the 28 patients eventually required hip surgery, which confirms the severity of the hip disease associated with genetic hemochromatosis.  相似文献   

16.
INTRODUCTION: Half of the patients with genetic hemochromatosis will have arthritis. Two of these articular involvements are well-known: the arthropathy involving the phalangeal and the metacarpophalangeal joints of the hand, useful for diagnosis, and hip arthropathy. Iron deposits seem to be involved in articular cartilage destruction. EXEGESIS: We report five cases of patients with hemochromatosis hip involvement. Hip arthropathy revealed hemochromatosis in one case and appeared despite efficient phlebotomies in another case. Three of these patients required hip arthroplasty. CONCLUSION: Hip arthropathy remains a frequent but unknown event in genetic hemochromatosis (12.5%) and it involves the functional prognosis.  相似文献   

17.
Although greater trochanter pain syndrome (GTPS) is a prevalent cause of musculoskeletal pain in the general population, there is lack of imaging studies searching for differential features of inflammatory enthesitis in GTPS. We analyzed the features of GTPS using sonography and magnetic resonance imaging (MRI) to identify useful differential signs between spondyloarthritis (SpA) and other inflammatory or non-inflammatory musculoskeletal diseases. All patients with unilateral GTPS attended by our Arthritis Unit between February 2011 and March 2012 were included. Patients were classified as having SpA or mechanical (without inflammatory musculoskeletal disease) GTPS. Rheumatoid arthritis (RA) patients were also included as inflammatory controls. Ultrasound scans of the painful and contralateral, asymptomatic, greater trochanter were made. We assessed the gluteus medius and gluteus minimus tendons for signs suggestive of tendinopathy. Random MRI of the same regions was made in a subgroup of patients to validate the ultrasound findings. A total of 107 patients with unilateral GTPS were included, of whom 96 were female, with a mean age of 61.6 years: 34 had SpA, 48 had non-inflammatory musculoskeletal disease, and 25 had RA. No specific sonographic features for SpA were found. Pathological findings were more frequent in patients without musculoskeletal inflammatory disease (mainly bursitis and erosions). A large number of alterations were found in the asymptomatic side (around 40 % had cortical irregularities and 20 % bursa effusion). Signs of enthesopathy were more prevalent in the gluteus minimus tendon, regardless of the diagnosis (54.2 % had erosions, 39.3 % bursitis, 38.3 % calcifications and 37.4 % tendinosis). No patient had power Doppler signal. Age was the main factor in the appearance of tendinopathy. MRI confirmed the changes detected by ultrasound in all 40 patients evaluated. GTPS in patients with SpA has similar sonographic findings to those observed in patients with RA and patients without musculoskeletal inflammatory disease. Neither sonography nor MRI was clinically useful in classifying GTPS as a manifestation of SpA.  相似文献   

18.
Calcium pyrophosphate dihydrate deposition (CPPDD) disease is the term used to describe a group of common and potentially severe metabolic arthropathies. In these, CPPD crystals form and are deposited in the cartilage matrix (chondrocalcinosis) and induce inflammatory and/or destructive mechanisms. Most cases are idiopathic, but hyperparathyroidism, hemochromatosis, hypomagnesemia and hypophosphatemia can promote or cause chondrocalcinosis. Early disease (with onset before the age of 60 years) thus requires that the patient be examined for these metabolic conditions, particularly hemochromatosis. The prevalence of CPPDD disease in the general population increases with age, being 10-15% in the age group 65-75 years and more than 40% in the over-80s. Although frequently asymptomatic, chondrocalcinosis can involve severe acute attacks of inflammatory arthritis (pseudogout) and also various types of chronic arthropathy including pseudorheumatoid arthritis, pseudo-osteoarthritis, and pseudoneuropathic joint disease. CPPD crystals can also be deposited in the bursae, ligaments, and tendons and generate inflammation and/or ruptures. The diagnosis is based on synovial fluid analysis (positively birefringent CPPD crystals visualized by compensated polarized light microscopy) and X-rays (punctate and linear radiodense areas in fibrocartilage and hyaline cartilage). Treatment is primarily symptomatic, since there is no known drug that can prevent progression of the joint destruction). Nonsteroid anti-inflammatory drugs (NSAIDs) and intra-articular or systemic glucocorticoids (amounts must be only small if use is prolonged) are the most useful treatments. Colchicine can be effective in recurring pseudogout, and magnesium can be used prophylactically. In a small uncontrolled series methotrexate was effective and aroused interest; it can be used when other treatments fail.  相似文献   

19.
This study aims to evaluate the presence of arthropathy in the large peripheral joints most commonly affected in acromegaly and to classify the severity according to the functional assessment of each joint to identify any factor that could predict the development of arthropathy and its level of severity. Seventy-one acromegalic patients were interviewed and underwent a physical examination of the knees, hips, and shoulders to identify the presence of arthropathy. The disease was functionally classified as more severe or less severe, according to a specific functional scale. We studied 21 males (29.5 %) and 50 females (70.5 %) with a mean age of 49.5?±?14.5 years. Arthropathy in the studied joints was observed in 40 patients (prevalence of 56 %), and a statistically significant association with the presence of arthropathy was observed for three of the evaluated factors: increased body mass index (BMI), older age at diagnosis of acromegaly, and female gender. There was no association with disease control or other factors related to acromegaly. We classified 19 patients as having more functionally severe arthropathy and identified two factors associated with its development: increased BMI and lower levels of insulin-like growth factor type I. The relationship of factors such as female sex and BMI, which are also related to osteoarthritis, with arthropathy in acromegalic patients suggested a high prevalence of irreversible joint disease present at diagnosis of acromegaly. We highlight the BMI, which was associated with either the presence of arthropathy or more severe arthropathy, which demonstrates the importance of body weight control in the management of acromegalic patients.  相似文献   

20.

Purpose

Besides the use of conventional x-rays in the diagnostic work-up of initial changes in patients suffering from rheumatoid arthritis (RA), 3-phase bone scintigraphy (3P-Sz) is as well established as magnetic resonance imaging (MRI). The aim of this study was to compare the diagnostic value of ultrasound of the hands with proven methods such as conventional x-rays, low-field MRI and 3P-Sz.

Methods

A total of 30 patients were studied using a 1 day protocol with ultrasound, 3P-Sz, MRI and x-ray of the hands. Images were visually assessed by two blinded nuclear medicine physicians and radiologists and classified as RA typical and non-RA typical changes. All methods were compared to the summarized findings interpreted by a rheumatologist after 2 years.

Results

Of the 30 patients, 19 presented with clinical symptoms of initial changes due to rheumatoid arthritis. Ultrasound revealed 14/19 patients with the correct diagnosis. Conventional x-rays indicated 11/19 patients, while 3P-Sz (100%) and low-field MRI (95%) showed high sensitivity. It was possible to differentiate between inflammation and inconspicuous findings.

Conclusions

An experienced examiner can use ultrasound effectively for the initial diagnosis of RA. Based on its low cost, ultrasound is a valid alternative to conventional x-rays.  相似文献   

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