Diagnosis Of Kashin-Beck Disease Research Articles

Identifying discriminative features for diagnosis of Kashin-Beck disease among adolescents

IntroductionDiagnosing Kashin-Beck disease (KBD) involves damages to multiple joints and carries variable clinical symptoms, posing great challenge to the diagnosis of KBD for clinical practitioners. However, it is still unclear which clinical features of KBD are more informative for the diagnosis of Kashin-Beck disease among adolescent.MethodsWe first manually extracted 26 possible features including clinical manifestations, and pathological changes of X-ray images from 400 KBD and 400 non-KBD adolescents. With such features, we performed four classification methods, i.e., random forest algorithms (RFA), artificial neural networks (ANNs), support vector machines (SVMs) and linear regression (LR) with four feature selection methods, i.e., RFA, minimum redundancy maximum relevance (mRMR), support vector machine recursive feature elimination (SVM—RFE) and Relief. The performance of diagnosis of KBD with respect to different classification models were evaluated by sensitivity, specificity, accuracy, and the area under the receiver operating characteristic (ROC) curve (AUC).ResultsOur results demonstrated that the 10 out of 26 discriminative features were displayed more powerful performance, regardless of the chosen of classification models and feature selection methods. These ten discriminative features were distal end of phalanges alterations, metaphysis alterations and carpals alterations and clinical manifestations of ankle joint movement limitation, enlarged finger joints, flexion of the distal part of fingers, elbow joint movement limitation, squatting limitation, deformed finger joints, wrist joint movement limitation.ConclusionsThe selected ten discriminative features could provide a fast, effective diagnostic standard for KBD adolescents.

A comparative study of clinical effect of total knee arthroplasty in the treatment of primary osteoarthritis and osteoarthritis of Kashin-Beck disease.

To evaluate the clinical efficacy of total knee arthroplasty (TKA) in the treatment of primary osteoarthritis (OA) and osteoarthritis of Kashin-Beck disease (KBD). This study enrolled 77 KBD patients (77 knees, KBD-TKA) and 75 OA patients (75 knees, OA-TKA) who underwent TKA from September 2008 to June 2018. Clinical assessments for each patient were performed pre-operatively and last follow-up. The efficacy measures included the visual analogue scale (VAS) pain score, range of motion (ROM), Hospital for Special Surgery (HSS) score, and short form 36 Health Survey (SF-36) as well as related influencing factors between the two groups. All patients were followed up; the follow-up time of KBD-TKA was 14-132months, with an average of 72.68 ± 37.55months; OA-TKA was 15-120months, with an average of 49.2 ± 28.91months. There was no difference in pre-operative VAS score (7.29 vs. 7.24) and SF-36 (PCS) score (4.87 vs. 5.49) between KBD-TKA and OA-TKA (P > 0.05), while compared with OA, KBD-TKA had significantly worse pre-operative ROM (75.48° vs. 82.87°), HSS score (36.40 vs. 41.84), and SF-36 (MCS) score (26.28 vs. 28.73) (P < 0.05). At the final follow-up, there was no significant difference in VAS score (1.13 vs. 1.16), ROM (105.79 vs. 105.79), and HSS score (92.06 vs. 92.25) between KBD-TKA and OA-TKA (P > 0.05), while compared with OA, KBD-TKA had significantly worse SF-36 (PCS) score (36.90 vs. 42.00) and SF-36 (MCS) score (55.16 vs. 59.70) (P < 0.05). In a multivariate regression, controlling for multiple potential confounders, diagnosis of KBD was associated with poor quality of life after surgery, whereas pre-operative pain was specifically associated with post-operative pain. However, preoperative gender, age, BMI, and the angles of knee prosthesis (before and after surgery) were not associated with post-operative outcome. Patients with KBD undergoing primary TKA have excellent outcomes, comparable with OA at the final follow-up, in spite of worse pre-operative ROM, HSS score, and SF-36(MCS) score. However, KBD patients are worse than OA in terms of general health. Pre-operative age, gender, BMI, and the angles of knee prosthesis were not the factors influencing the clinical efficacy of TKA. The diagnosis of KBD was an independent risk factor for poor quality of life after TKA. Pre-operative pain was a clinically important predictor of outcome.

Gene expression signature in endemic osteoarthritis by microarray analysis.

Kashin-Beck Disease (KBD) is an endemic osteochondropathy with an unknown pathogenesis. Diagnosis of KBD is effective only in advanced cases, which eliminates the possibility of early treatment and leads to an inevitable exacerbation of symptoms. Therefore, we aim to identify an accurate blood-based gene signature for the detection of KBD. Previously published gene expression profile data on cartilage and peripheral blood mononuclear cells (PBMCs) from adults with KBD were compared to select potential target genes. Microarray analysis was conducted to evaluate the expression of the target genes in a cohort of 100 KBD patients and 100 healthy controls. A gene expression signature was identified using a training set, which was subsequently validated using an independent test set with a minimum redundancy maximum relevance (mRMR) algorithm and support vector machine (SVM) algorithm. Fifty unique genes were differentially expressed between KBD patients and healthy controls. A 20-gene signature was identified that distinguished between KBD patients and controls with 90% accuracy, 85% sensitivity, and 95% specificity. This study identified a 20-gene signature that accurately distinguishes between patients with KBD and controls using peripheral blood samples. These results promote the further development of blood-based genetic biomarkers for detection of KBD.

Screening and model construction of the clinical diagnostic indictors for Kashin-Beck disease in adolescents

Objective To understand the relationship between clinical manifestations and Kashin-Beck disease(KBD) and their contribution to diagnosis of KBD and to construct the diagnosis model for KBD in adolescents.Methods A total of 2248 subjects under the age of 18 were collected from 6 KBD endemic and 1 non-KBD areas of the Shaanxi province in China.Analysis of 32 indicators,including gender,age,and KBD clinical indicators.Indicators of the distribution of measurement data between the two groups using t test and analysis of variance,x2 test with count data,multi-category ordered response variables Logistic regression analysis for model building.Results It showed the KBD prevalence rate in adolescent had an increasing tendency with age.Analysis of indicators between the two groups,in addition to the age factor(P ＜ 0.05),the difference of ankle pain,knee pain,wrist movement disorder and other 5 indicators(P ＜ 0.05) and the last bend,elbow movement disorder,syndactyly and other 9 indicators(P ＜ 0.01 ) were statistically significant.Sixteen clinical and radiographic features in the clinical manifestations were significantly related with the clinical severity grading with KBD(P ＜ 0.01 ).Four models on the diagnostic indictors were constructed by cumulative logit model for adolescent KBD (-21ogL,Score,Wald x2 test,P ＜ 0.01 ).Conclusions The establishment of the diagnostic model based on their contribution of the joint involvement in systemic performance-related indicators has an important role for clinical diagnosis of KBD. Key words: Kashin Beck disease; Diagnosis; Symptoms; Physical signs

354 THE RELATIONSHIP OF BRACHYDACTYLY AND JOINT RANGE OF MOTION IN A KASHIN-BECK DISEASE REGION OF CHINA

Purpose: Kashin-Beck Disease (KBD) is an osteoarthropathy of uncertain etiology that is endemic to the central and northwest regions of China. Affected individuals have varying degrees of joint deformity and limited joint mobility. Until now, the gold standard for the diagnosis of KBD has been based on radiographic and clinical examination features. Nevertheless, it is still difficult for grassroots health care workers and medical researchers to diagnose KBD. We studied the relationship of one of the signs of KBD— brachydactyly, and the range of motion (ROM) at 8 joint sites. Our long-term goal is to improve the sensitivity and specificity of the screening tools for KBD. Methods: 125 subjects from the Shangqiu village located in Shaanxi province were involved in this study. All study procedures were approved by the Xi’an Jiongtong University and Duke University Institutional Review Boards. Informed consent, physical examination data, and hand X-ray images were collected. At the same time, saliva and nail samples were collected for genetic and biochemical analyses. Brachydactyly was identified by the inability of the fingers (of either hand) to flex sufficiently to touch the palm beyond the transverse skin fold of the hand. ROM was quantified as normal, mildly restricted, moderately restricted or severely restricted for 8 joint sites (cervical spine, shoulder, elbow, wrist, hip, knee, tibiotalar and subtalar ankle, and metatarsalphalangeal foot joint). Non-parametric rank sum test were used to evaluate the severity of ROM abnormalities between the two groups. All statistical analyses were performed with JMP 7.0. Results: A total of 47 (37.6%) subjects met criteria for brachydactyly. The mean age and body mass index were similar for the brachydactyly and non-brachydactyly groups (Figure 1). The joint ROM was significantly different between the brachydactyly and non-brachydactyly groups for all joint sites except the hip

Kashin-Beck disease in children: radiographic findings in the wrist.

To characterize the features and prevalence of radiographic abnormalities of the wrist in children with Kashin-Beck disease (KBD) and to determine whether the presence of radiographic abnormalities in the wrist correlates with the severity of KBD. Two hundred and eight posteroanterior radiographs of the right hand (including wrist) in children with KBD, ranging in age from 4 to 11 years (mean age 7.7 years), from endemic areas of China were reviewed. Carpal bony margins were evaluated for blurring, thinning, irregularity with and without sclerosis, interruption, depression or destruction. The radiocarpal, intercarpal and carpometacarpal joints were assessed for widening or narrowing. The severity of the disease was graded using the hand criteria from the Chinese Radiographic Criteria of KBD Diagnosis, which classifies the following five types according to the location of the hand involved: I, metaphysis; II, diaphysis; III, I+II; IV, metaphysis and epiphysis; V, II+IV. Of the 208 children, 95 had abnormalities in the hand but not in the wrist; 108 had both hand and wrist abnormalities; only five had abnormal wrist findings without any hand abnormalities. Of the 108 cases with wrist abnormalities, all the carpal bones were involved in 33 cases, of which the hand types were either IV or V. However, any individual carpal bone, or combination of bones, may become involved. The carpal bones most likely to show abnormalities were the capitate and the hamate (93%), followed by the triquetrum (31%), the lunate (9%), the scaphoid (6%), and the trapezoid and the trapezium (5%). The pisiform bones were not evaluated because they cannot be seen on the overlapping posteroanterior radiographs. The most commonly involved carpal joint was the midcarpal joint (42%). Recognizing carpal abnormalities on radiographs is helpful for the diagnosis of KBD and the evaluation of the severity of the disease. The more severe the KBD, the more likely that the carpal bones will be involved. The capitate and hamate are frequently affected if the disease involves the carpal bones.

Diagnostic, clinical and radiological characteristics of Kashin-Beck disease in Shaanxi Province, PR China.

Twenty clinical symptoms and four radiological signs of different joints in patients with Kashin-Beck disease (KBD) were studied in 2,560 subjects from endemic and non-endemic areas of the Shaanxi Province in China. It is suggested to classify the symptoms into five groups representing different manifestations of the disease. The association of some of the symptoms appears to provide significant criteria for use in the diagnosis of KBD.